NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
NM_000054.7(AVPR2):c.26-6T>G
|
rs56689668
|
0.99968
|
NM_004415.4(DSP):c.741= (p.Ala247=)
|
rs2806234
|
0.99917
|
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala)
|
rs1552311
|
0.99732
|
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
0.98540
|
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met)
|
rs2438378
|
0.97114
|
NM_001191016.3(CASP12):c.373C>T (p.Arg125Ter)
|
rs497116
|
0.95649
|
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)
|
rs3027238
|
0.94552
|
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly)
|
rs2438374
|
0.93517
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)
|
rs1801726
|
0.91749
|
NM_032119.4(ADGRV1):c.18625-7T>C
|
rs7726023
|
0.91136
|
NM_022336.4(EDAR):c.750C>T (p.Ser250=)
|
rs260632
|
0.90287
|
NM_001184.4(ATR):c.7875G>A (p.Gln2625=)
|
rs1802904
|
0.88595
|
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr)
|
rs217086
|
0.87257
|
NM_000038.6(APC):c.5465T>A (p.Val1822Asp)
|
rs459552
|
0.82099
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
NM_020975.6(RET):c.2307G>T (p.Leu769=)
|
rs1800861
|
0.79547
|
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser)
|
rs4891392
|
0.79319
|
NM_020975.6(RET):c.135A>G (p.Ala45=)
|
rs1800858
|
0.79274
|
NM_004415.4(DSP):c.2091A>G (p.Gly697=)
|
rs2076304
|
0.76849
|
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys)
|
rs2366928
|
0.76700
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_000601.6(HGF):c.1272-4A>G
|
rs1800793
|
0.76662
|
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu)
|
rs1799983
|
0.76319
|
NM_032119.4(ADGRV1):c.2367+8C>T
|
rs2366773
|
0.76285
|
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=)
|
rs1139405
|
0.75861
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)
|
rs2366777
|
0.74245
|
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser)
|
rs1878878
|
0.74142
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)
|
rs4916684
|
0.73682
|
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala)
|
rs3911730
|
0.73528
|
NM_022336.4(EDAR):c.1056C>T (p.Cys352=)
|
rs12623957
|
0.72397
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.71202
|
NM_006005.3(WFS1):c.2565A>G (p.Ser855=)
|
rs1046316
|
0.70506
|
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)
|
rs3729547
|
0.69444
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)
|
rs1494558
|
0.68368
|
NM_006005.3(WFS1):c.684C>G (p.Arg228=)
|
rs1801213
|
0.68223
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.68008
|
NM_000505.4(F12):c.-4T>C
|
rs1801020
|
0.67118
|
NM_002156.5(HSPD1):c.273A>G (p.Lys91=)
|
rs8539
|
0.67099
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
NM_201384.3(PLEC):c.2457+6C>T
|
rs11780911
|
0.66214
|
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=)
|
rs4660468
|
0.65693
|
NM_001018005.2(TPM1):c.453C>A (p.Ala151=)
|
rs1071646
|
0.64628
|
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)
|
rs7575451
|
0.64120
|
NM_006005.3(WFS1):c.1500C>T (p.Asn500=)
|
rs1801214
|
0.63787
|
NM_001184.4(ATR):c.1776T>A (p.Gly592=)
|
rs2227930
|
0.63717
|
NM_001184.4(ATR):c.632T>C (p.Met211Thr)
|
rs2227928
|
0.63625
|
NM_006005.3(WFS1):c.461-9A>G
|
rs10010131
|
0.63169
|
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)
|
rs4986764
|
0.61453
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
NM_006005.3(WFS1):c.2433G>A (p.Lys811=)
|
rs1046314
|
0.57941
|
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
NM_006005.3(WFS1):c.1185C>T (p.Val395=)
|
rs1801206
|
0.56648
|
NM_018055.5(NODAL):c.494A>G (p.His165Arg)
|
rs1904589
|
0.56006
|
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)
|
rs4664475
|
0.55659
|
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=)
|
rs6558406
|
0.55590
|
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser)
|
rs4536103
|
0.55018
|
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=)
|
rs6558405
|
0.54173
|
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=)
|
rs7014582
|
0.54076
|
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln)
|
rs3213422
|
0.54012
|
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=)
|
rs7822511
|
0.53938
|
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro)
|
rs7833924
|
0.53335
|
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg)
|
rs55895668
|
0.53310
|
NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val)
|
rs1136450
|
0.52928
|
NM_003331.5(TYK2):c.1669+7T>C
|
rs280519
|
0.52527
|
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=)
|
rs2438349
|
0.52519
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg)
|
rs1801274
|
0.50935
|
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser)
|
rs9490809
|
0.50546
|
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=)
|
rs7819099
|
0.50384
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
NM_001004482.1(OR13C5):c.244C>T (p.Leu82=)
|
rs80227456
|
0.49704
|
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)
|
rs7598901
|
0.49457
|
NM_000448.3(RAG1):c.746A>G (p.His249Arg)
|
rs3740955
|
0.48211
|
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
|
rs2303606
|
0.47852
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu)
|
rs1135688
|
0.47045
|
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)
|
rs2229813
|
0.46716
|
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)
|
rs2247870
|
0.45079
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg)
|
rs2244492
|
0.44551
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)
|
rs1050162
|
0.44262
|
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)
|
rs1050163
|
0.44235
|
NM_006005.3(WFS1):c.1832G>A (p.Arg611His)
|
rs734312
|
0.43085
|
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_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)
|
rs7079481
|
0.40619
|
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)
|
rs1061305
|
0.40617
|
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)
|
rs767455
|
0.39963
|
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala)
|
rs231775
|
0.39951
|
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)
|
rs7413162
|
0.39681
|
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu)
|
rs10823148
|
0.39447
|
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn)
|
rs10997975
|
0.39270
|
NM_005908.4(MANBA):c.757G>A (p.Val253Ile)
|
rs227368
|
0.39095
|
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn)
|
rs7916821
|
0.39079
|
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met)
|
rs10880
|
0.39072
|
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)
|
rs5956583
|
0.38953
|
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=)
|
rs5398
|
0.38373
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln)
|
rs2236225
|
0.38175
|
NM_001065.4(TNFRSF1A):c.625+10A>G
|
rs1800693
|
0.38055
|
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_000057.4(BLM):c.2555+7T>C
|
rs3815003
|
0.37072
|
NM_001256715.2(DNAAF3):c.1239-8A>G
|
rs28377509
|
0.36480
|
NM_003244.4(TGIF1):c.16+1720del
|
rs11571510
|
0.36186
|
NM_000410.4(HFE):c.340+4T>C
|
rs2071303
|
0.35994
|
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)
|
rs1748
|
0.35806
|
NM_033337.3(CAV3):c.99C>T (p.Asn33=)
|
rs1008642
|
0.35756
|
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)
|
rs1061234
|
0.35682
|
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp)
|
rs1001238
|
0.35628
|
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val)
|
rs2042995
|
0.35566
|
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val)
|
rs3829746
|
0.35516
|
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
|
rs9808377
|
0.35383
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35138
|
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile)
|
rs2042996
|
0.34979
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)
|
rs1133330
|
0.34583
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys)
|
rs10037067
|
0.33642
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=)
|
rs774726264
|
0.33333
|
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_000569.8(FCGR3A):c.526T>G (p.Phe176Val)
|
rs396991
|
0.32987
|
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_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser)
|
rs2307394
|
0.32301
|
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_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)
|
rs13181
|
0.31719
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_052845.4(MMAB):c.57C>A (p.Arg19=)
|
rs10774774
|
0.31358
|
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)
|
rs6713162
|
0.31314
|
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
|
rs6647
|
0.31278
|
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_024006.4(VKORC1):c.-1639G>A
|
rs9923231
|
0.31157
|
NM_181523.3(PIK3R1):c.334+14A>C
|
rs706714
|
0.31124
|
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=)
|
rs706713
|
0.31073
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)
|
rs1054486
|
0.30800
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_001614.5(ACTG1):c.930C>T (p.Ala310=)
|
rs1135989
|
0.30776
|
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=)
|
rs1965707
|
0.30680
|
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)
|
rs10170273
|
0.30371
|
NM_001492.6(GDF1):c.353C>T (p.Ala118Val)
|
rs4808863
|
0.30267
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
NM_004393.6(DAG1):c.2256C>T (p.His752=)
|
rs1801143
|
0.30176
|
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=)
|
rs35916068
|
0.30160
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920
|
0.30148
|
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)
|
rs16869042
|
0.30112
|
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=)
|
rs2857829
|
0.29968
|
NM_201384.3(PLEC):c.4045-4A>G
|
rs7002152
|
0.29962
|
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His)
|
rs6558407
|
0.29956
|
NM_201384.3(PLEC):c.3757-6A>G
|
rs11136333
|
0.29944
|
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=)
|
rs7016416
|
0.29943
|
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=)
|
rs3135109
|
0.29936
|
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln)
|
rs11136334
|
0.29922
|
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=)
|
rs55836855
|
0.29922
|
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=)
|
rs11778026
|
0.29910
|
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val)
|
rs7002002
|
0.29901
|
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=)
|
rs11777402
|
0.29844
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=)
|
rs56117011
|
0.29823
|
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=)
|
rs1140522
|
0.29794
|
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=)
|
rs6984820
|
0.29792
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)
|
rs891187
|
0.29351
|
NM_201384.3(PLEC):c.1095T>C (p.Asp365=)
|
rs11783799
|
0.29245
|
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=)
|
rs55646585
|
0.29155
|
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val)
|
rs11136336
|
0.29153
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
NM_139343.3(BIN1):c.486T>C (p.Thr162=)
|
rs1060743
|
0.29063
|
NM_005591.4(MRE11):c.403-6G>A
|
rs535801
|
0.28996
|
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala)
|
rs4774
|
0.27935
|
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27837
|
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys)
|
rs10062026
|
0.27574
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.27385
|
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)
|
rs7260320
|
0.27290
|
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)
|
rs3219489
|
0.26720
|
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)
|
rs1799793
|
0.26310
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)
|
rs2365725
|
0.24847
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_001256715.2(DNAAF3):c.790-14C>T
|
rs7260371
|
0.24759
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met)
|
rs3731746
|
0.24029
|
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)
|
rs12402052
|
0.24010
|
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
|
rs16868972
|
0.23938
|
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile)
|
rs2303838
|
0.23912
|
NM_033337.3(CAV3):c.123T>C (p.Phe41=)
|
rs13087941
|
0.23875
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)
|
rs11121552
|
0.23676
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
NM_001101648.2(NPC1L1):c.816C>G (p.Leu272=)
|
rs2072183
|
0.23523
|
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)
|
rs1800136
|
0.23407
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)
|
rs1799977
|
0.23048
|
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile)
|
rs3730089
|
0.22679
|
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)
|
rs1303
|
0.21786
|
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met)
|
rs738409
|
0.21657
|
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg)
|
rs1050349
|
0.21500
|
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His)
|
rs36051007
|
0.21486
|
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr)
|
rs12463674
|
0.21485
|
NM_000914.5(OPRM1):c.1165-11152C>T
|
rs677830
|
0.21164
|
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn)
|
rs4715
|
0.20729
|
NM_020975.6(RET):c.135= (p.Ala45=)
|
rs1800858
|
0.20726
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_000270.4(PNP):c.151G>A (p.Gly51Ser)
|
rs1049564
|
0.20682
|
NM_001100.4(ACTA1):c.130-10G>C
|
rs41271481
|
0.20670
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20641
|
NM_080424.4(SP110):c.617C>T (p.Ala206Val)
|
rs28930679
|
0.20608
|
NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr)
|
rs200125713
|
0.20353
|
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)
|
rs34577613
|
0.20341
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=)
|
rs6880570
|
0.20255
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_001130987.2(DYSF):c.6321+15C>T
|
rs2559082
|
0.19470
|
NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val)
|
rs449643
|
0.19166
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
|
rs11558179
|
0.18595
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_175914.5(HNF4A):c.50-5C>T
|
rs745975
|
0.17964
|
NM_001261428.3(LPIN1):c.113G>A (p.Arg38Gln)
|
rs4614906
|
0.17664
|
NM_000057.4(BLM):c.3102G>A (p.Thr1034=)
|
rs2227933
|
0.17570
|
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile)
|
rs35813871
|
0.17564
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)
|
rs3810950
|
0.17408
|
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu)
|
rs17737379
|
0.17356
|
NM_053025.4(MYLK):c.62C>A (p.Pro21His)
|
rs28497577
|
0.17349
|
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile)
|
rs17720303
|
0.16644
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_173630.4(RTTN):c.6144A>G (p.Val2048=)
|
rs2304378
|
0.16509
|
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly)
|
rs28494009
|
0.16504
|
NM_001267550.2(TTN):c.98098+9T>A
|
rs2288325
|
0.16490
|
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)
|
rs1805388
|
0.16468
|
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His)
|
rs12693166
|
0.16435
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser)
|
rs12693164
|
0.16204
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala)
|
rs16866465
|
0.15861
|
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=)
|
rs17554631
|
0.15645
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_000057.4(BLM):c.3945C>T (p.Leu1315=)
|
rs1063147
|
0.15526
|
NM_000057.4(BLM):c.3531C>A (p.Ala1177=)
|
rs2227934
|
0.15517
|
NM_053025.4(MYLK):c.782T>C (p.Val261Ala)
|
rs3796164
|
0.15515
|
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=)
|
rs950692
|
0.15398
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_000231.3(SGCG):c.228T>C (p.Asp76=)
|
rs1800350
|
0.15152
|
NM_001130987.2(DYSF):c.1276+11C>T
|
rs35982795
|
0.15096
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032
|
0.14695
|
NM_001709.5(BDNF):c.196G>A (p.Val66Met)
|
rs6265
|
0.14533
|
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
|
rs2234962
|
0.14532
|
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)
|
rs3731749
|
0.14445
|
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)
|
rs2493292
|
0.14386
|
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
|
rs34603128
|
0.14353
|
NM_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14330
|
NM_001999.4(FBN2):c.111G>A (p.Pro37=)
|
rs55715053
|
0.14249
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
NM_206937.2(LIG4):c.1704T>C (p.Asp568=)
|
rs1805386
|
0.13864
|
NM_139343.3(BIN1):c.957C>T (p.Ala319=)
|
rs2276579
|
0.13837
|
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)
|
rs2076299
|
0.13777
|
NM_001130987.2(DYSF):c.888+11T>C
|
rs13428076
|
0.13574
|
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)
|
rs16866406
|
0.13367
|
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His)
|
rs2288569
|
0.13356
|
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)
|
rs6472
|
0.13352
|
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)
|
rs3829747
|
0.13294
|
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)
|
rs113097169
|
0.13255
|
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys)
|
rs744426
|
0.13213
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)
|
rs2292954
|
0.12849
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr)
|
rs2235491
|
0.12316
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg)
|
rs438999
|
0.11951
|
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)
|
rs709932
|
0.11804
|
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro)
|
rs3732486
|
0.11664
|
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)
|
rs747122
|
0.11550
|
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=)
|
rs13158963
|
0.11513
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_000431.4(MVK):c.155G>A (p.Ser52Asn)
|
rs7957619
|
0.11415
|
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys)
|
rs2742347
|
0.11354
|
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)
|
rs2272946
|
0.11020
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)
|
rs1801725
|
0.10682
|
NM_000214.3(JAG1):c.588C>T (p.Cys196=)
|
rs1801138
|
0.10620
|
NM_001999.4(FBN2):c.183C>G (p.Pro61=)
|
rs73348287
|
0.10581
|
NM_012210.4(TRIM32):c.1254G>A (p.Val418=)
|
rs1661300
|
0.10569
|
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys)
|
rs16866538
|
0.10360
|
NM_003283.6(TNNT1):c.129-9T>G
|
rs67795913
|
0.10318
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
NM_001164508.2(NEB):c.2944-9G>A
|
rs13427102
|
0.10205
|
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_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val)
|
rs12994774
|
0.09975
|
NM_001130987.2(DYSF):c.951+4T>C
|
rs11903960
|
0.09951
|
NM_001267550.2(TTN):c.68217T>C (p.His22739=)
|
rs10497517
|
0.09829
|
NM_000601.6(HGF):c.333A>G (p.Glu111=)
|
rs5745635
|
0.09752
|
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met)
|
rs36086089
|
0.09592
|
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)
|
rs1801496
|
0.09551
|
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)
|
rs1801688
|
0.09526
|
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)
|
rs1801687
|
0.09261
|
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)
|
rs3729856
|
0.09064
|
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met)
|
rs6569336
|
0.09024
|
NM_080424.4(SP110):c.619G>A (p.Glu207Lys)
|
rs9061
|
0.08779
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp)
|
rs2920048
|
0.08600
|
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=)
|
rs11998271
|
0.08588
|
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro)
|
rs17145720
|
0.08574
|
NM_004985.5(KRAS):c.451-9G>A
|
rs12313763
|
0.08467
|
NM_033337.3(CAV3):c.27C>T (p.Leu9=)
|
rs1974763
|
0.08452
|
NM_000214.3(JAG1):c.2214A>C (p.Thr738=)
|
rs1801140
|
0.08364
|
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr)
|
rs4893852
|
0.08349
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)
|
rs3729845
|
0.08311
|
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=)
|
rs6717213
|
0.08304
|
NM_000214.3(JAG1):c.267G>A (p.Gly89=)
|
rs1051415
|
0.08298
|
NM_005411.5(SFTPA1):c.56T>C (p.Val19Ala)
|
rs1059047
|
0.08215
|
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr)
|
rs62621236
|
0.08189
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.08017
|
NM_000218.3(KCNQ1):c.1590+14T>C
|
rs11024034
|
0.07860
|
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu)
|
rs13398235
|
0.07839
|
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)
|
rs56207956
|
0.07828
|
NM_001267550.2(TTN):c.25921+10C>T
|
rs10183237
|
0.07769
|
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu)
|
rs58308209
|
0.07595
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07445
|
NM_144997.7(FLCN):c.871+36G>A
|
rs3744124
|
0.07420
|
NM_022336.4(EDAR):c.357-4G>A
|
rs748225
|
0.07354
|
NM_000363.5(TNNI3):c.150+13G>A
|
rs73617692
|
0.07353
|
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=)
|
rs11991764
|
0.07344
|
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)
|
rs13451
|
0.07238
|
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=)
|
rs16866425
|
0.07162
|
NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=)
|
rs12272086
|
0.07159
|
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu)
|
rs6723526
|
0.07129
|
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=)
|
rs28455570
|
0.07092
|
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro)
|
rs34908836
|
0.07052
|
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)
|
rs28711516
|
0.06950
|
NM_000214.3(JAG1):c.744A>G (p.Pro248=)
|
rs10485741
|
0.06947
|
NM_001368067.1(LDB3):c.504T>C (p.Asp168=)
|
rs76615432
|
0.06909
|
NM_032119.4(ADGRV1):c.8730+10_8730+11insC
|
rs377585302
|
0.06843
|
NM_007078.3(LDB3):c.690-4842G>A
|
rs113445294
|
0.06823
|
NM_006005.3(WFS1):c.2322G>A (p.Lys774=)
|
rs2230721
|
0.06809
|
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)
|
rs112562759
|
0.06801
|
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)
|
rs73885319
|
0.06773
|
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met)
|
rs17544552
|
0.06764
|
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu)
|
rs3732487
|
0.06754
|
NM_014000.3(VCL):c.1506G>A (p.Arg502=)
|
rs2228373
|
0.06736
|
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)
|
rs60910145
|
0.06710
|
NM_000169.3(GLA):c.-12G>A
|
rs3027585
|
0.06554
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
NM_001130987.2(DYSF):c.1038C>T (p.His346=)
|
rs36122356
|
0.06463
|
NM_000169.3(GLA):c.-10C>T
|
rs2071225
|
0.06441
|
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met)
|
rs35655964
|
0.06422
|
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile)
|
rs13157270
|
0.06417
|
NM_000337.5(SGCD):c.-303A>T
|
rs7725121
|
0.06375
|
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln)
|
rs2291569
|
0.06258
|
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=)
|
rs13339237
|
0.06245
|
NM_001256715.2(DNAAF3):c.1164-14C>T
|
rs60176657
|
0.06188
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
NM_001927.4(DES):c.578+11G>A
|
rs111548596
|
0.06130
|
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)
|
rs57611801
|
0.06070
|
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)
|
rs10164753
|
0.06031
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06016
|
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)
|
rs3730238
|
0.05965
|
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=)
|
rs34534853
|
0.05909
|
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=)
|
rs16866473
|
0.05854
|
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=)
|
rs11988293
|
0.05812
|
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=)
|
rs62642469
|
0.05798
|
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn)
|
rs34627722
|
0.05757
|
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_006393.3(NEBL):c.1051A>G (p.Met351Val)
|
rs4025981
|
0.05741
|
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)
|
rs17543819
|
0.05741
|
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=)
|
rs34803322
|
0.05741
|
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)
|
rs4894048
|
0.05739
|
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)
|
rs16866378
|
0.05725
|
NM_002458.3(MUC5B):c.15861A>G (p.Pro5287=)
|
rs56344012
|
0.05669
|
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu)
|
rs16869016
|
0.05655
|
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys)
|
rs4748728
|
0.05648
|
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn)
|
rs11888217
|
0.05644
|
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)
|
rs890871
|
0.05642
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.05626
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_013382.7(POMT2):c.162G>T (p.Ala54=)
|
rs2270420
|
0.05519
|
NM_006393.3(NEBL):c.1132G>C (p.Asp378His)
|
rs41277370
|
0.05503
|
NM_000231.3(SGCG):c.*13C>T
|
rs9510701
|
0.05421
|
NM_000431.4(MVK):c.405G>A (p.Ser135=)
|
rs34368092
|
0.05306
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val)
|
rs35858667
|
0.05256
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=)
|
rs35139934
|
0.05241
|
NM_001317778.2(SFTPC):c.201+14G>A
|
rs8192327
|
0.05091
|
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=)
|
rs4894045
|
0.05021
|
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg)
|
rs4893853
|
0.05020
|
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter)
|
rs16910526
|
0.04986
|
NM_006005.3(WFS1):c.1367G>A (p.Arg456His)
|
rs1801208
|
0.04977
|
NM_000218.3(KCNQ1):c.478-10G>A
|
rs28730752
|
0.04910
|
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.04908
|
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn)
|
rs2306636
|
0.04907
|
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)
|
rs28730711
|
0.04871
|
NM_201384.3(PLEC):c.2613-7C>A
|
rs11990994
|
0.04852
|
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)
|
rs34012042
|
0.04830
|
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile)
|
rs56142888
|
0.04798
|
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)
|
rs12476289
|
0.04792
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)
|
rs8178990
|
0.04717
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)
|
rs9406386
|
0.04659
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_002230.4(JUP):c.1653+10C>A
|
rs73983658
|
0.04634
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_057176.3(BSND):c.127G>A (p.Val43Ile)
|
rs34561376
|
0.04587
|
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg)
|
rs7729495
|
0.04586
|
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=)
|
rs75833626
|
0.04561
|
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=)
|
rs9808036
|
0.04549
|
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp)
|
rs34282046
|
0.04400
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
NM_000492.4(CFTR):c.-8G>C
|
rs1800501
|
0.04368
|
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser)
|
rs17470454
|
0.04338
|
NM_003283.6(TNNT1):c.33-8G>A
|
rs76630067
|
0.04332
|
NM_000601.6(HGF):c.910G>A (p.Glu304Lys)
|
rs5745687
|
0.04328
|
NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val)
|
rs2288200
|
0.04316
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04292
|
NM_201384.3(PLEC):c.10014C>T (p.Val3338=)
|
rs35775257
|
0.04275
|
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp)
|
rs11757455
|
0.04245
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=)
|
rs1139406
|
0.04214
|
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=)
|
rs35959206
|
0.04188
|
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=)
|
rs1139807
|
0.04188
|
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val)
|
rs77469944
|
0.04185
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)
|
rs72648998
|
0.04075
|
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)
|
rs16866380
|
0.04073
|
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn)
|
rs3813243
|
0.04071
|
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=)
|
rs16830192
|
0.04050
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)
|
rs2274976
|
0.03996
|
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
|
rs111033465
|
0.03966
|
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His)
|
rs4894028
|
0.03961
|
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=)
|
rs75586449
|
0.03960
|
NM_139343.3(BIN1):c.894G>A (p.Ser298=)
|
rs2228955
|
0.03955
|
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)
|
rs16967510
|
0.03954
|
NM_001267550.2(TTN):c.49731T>C (p.His16577=)
|
rs2115558
|
0.03943
|
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)
|
rs3731752
|
0.03923
|
NM_002230.4(JUP):c.425G>A (p.Arg142His)
|
rs41283425
|
0.03910
|
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=)
|
rs13031275
|
0.03886
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)
|
rs41281334
|
0.03832
|
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=)
|
rs17062686
|
0.03808
|
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)
|
rs62000408
|
0.03806
|
NM_020975.6(RET):c.2508C>T (p.Ser836=)
|
rs1800862
|
0.03791
|
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile)
|
rs2278196
|
0.03742
|
NM_201384.3(PLEC):c.718+10C>T
|
rs12545876
|
0.03717
|
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)
|
rs56181447
|
0.03706
|
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=)
|
rs35092519
|
0.03705
|
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
|
rs16866412
|
0.03700
|
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val)
|
rs74772299
|
0.03697
|
NM_000195.5(HPS1):c.11T>C (p.Val4Ala)
|
rs58548334
|
0.03653
|
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys)
|
rs73038324
|
0.03639
|
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=)
|
rs3729855
|
0.03634
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr)
|
rs35227368
|
0.03610
|
NM_017668.3(NDE1):c.948-5739G>A
|
rs34839877
|
0.03595
|
NM_022081.6(HPS4):c.558G>A (p.Ser186=)
|
rs13054747
|
0.03591
|
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)
|
rs72677244
|
0.03561
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
NM_144997.7(FLCN):c.1233G>A (p.Glu411=)
|
rs61750032
|
0.03557
|
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val)
|
rs72646881
|
0.03550
|
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile)
|
rs67665715
|
0.03523
|
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)
|
rs34598902
|
0.03505
|
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr)
|
rs11896637
|
0.03502
|
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)
|
rs16866531
|
0.03468
|
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys)
|
rs16868974
|
0.03455
|
NM_181741.4(ORC4):c.166C>G (p.Leu56Val)
|
rs2307397
|
0.03439
|
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=)
|
rs35062843
|
0.03423
|
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)
|
rs34180031
|
0.03419
|
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)
|
rs35948326
|
0.03419
|
NM_001101.5(ACTB):c.942G>A (p.Gln314=)
|
rs11546939
|
0.03418
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
NM_002354.3(EPCAM):c.904-12T>C
|
rs62139669
|
0.03374
|
NM_000363.5(TNNI3):c.198G>A (p.Glu66=)
|
rs3729710
|
0.03372
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
NM_000257.4(MYH7):c.1605A>G (p.Glu535=)
|
rs2069543
|
0.03319
|
NM_001710.6(CFB):c.26T>A (p.Leu9His)
|
rs4151667
|
0.03314
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)
|
rs35829419
|
0.03262
|
NM_032383.5(HPS3):c.1479G>A (p.Thr493=)
|
rs34197730
|
0.03245
|
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=)
|
rs61735627
|
0.03239
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=)
|
rs17624033
|
0.03213
|
NM_003476.5(CSRP3):c.150G>A (p.Ala50=)
|
rs7124801
|
0.03207
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)
|
rs41265017
|
0.03176
|
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=)
|
rs3763073
|
0.03149
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=)
|
rs35295469
|
0.03116
|
NM_000130.5(F5):c.6443T>C (p.Met2148Thr)
|
rs9332701
|
0.03115
|
NM_000540.3(RYR1):c.2871-5C>T
|
rs45585535
|
0.03110
|
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser)
|
rs61749867
|
0.03097
|
NM_032119.4(ADGRV1):c.13232-7A>G
|
rs2438358
|
0.03097
|
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg)
|
rs41311333
|
0.03061
|
NM_144672.4(OTOA):c.2229C>T (p.Ala743=)
|
rs461179
|
0.03046
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03031
|
NM_004415.4(DSP):c.423-16_423-15insC
|
rs113028223
|
0.03015
|
NM_002474.3(MYH11):c.792T>C (p.Tyr264=)
|
rs34341838
|
0.03006
|
NM_014009.4(FOXP3):c.543C>T (p.Ser181=)
|
rs2232367
|
0.03006
|
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=)
|
rs76046880
|
0.02993
|
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val)
|
rs75792246
|
0.02993
|
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met)
|
rs11944325
|
0.02959
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)
|
rs2066844
|
0.02936
|
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)
|
rs17355446
|
0.02915
|
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val)
|
rs2230720
|
0.02889
|
NM_000081.4(LYST):c.7137A>C (p.Leu2379=)
|
rs61738992
|
0.02884
|
NM_001267550.2(TTN):c.32393-12A>G
|
rs16866434
|
0.02884
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
0.02876
|
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys)
|
rs80109666
|
0.02845
|
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=)
|
rs61749601
|
0.02836
|
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)
|
rs28933977
|
0.02826
|
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp)
|
rs34800215
|
0.02813
|
NM_001458.5(FLNC):c.2390-13C>T
|
rs78086167
|
0.02800
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
NM_020451.3(SELENON):c.981C>T (p.Arg327=)
|
rs147587542
|
0.02788
|
NM_001458.5(FLNC):c.5669-12C>T
|
rs79790270
|
0.02786
|
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=)
|
rs34509421
|
0.02777
|
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)
|
rs117535951
|
0.02765
|
NM_194248.3(OTOF):c.158C>T (p.Ala53Val)
|
rs1879761
|
0.02762
|
NM_001039876.3(SYNE4):c.523G>C (p.Ala175Pro)
|
rs77925409
|
0.02760
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_000514.4(GDNF):c.429G>A (p.Arg143=)
|
rs36010631
|
0.02743
|
NM_020223.4(FAM20C):c.1218T>A (p.Pro406=)
|
rs144007479
|
0.02734
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu)
|
rs36121515
|
0.02697
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02697
|
NM_007078.3(LDB3):c.1074C>T (p.Ala358=)
|
rs45459491
|
0.02688
|
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)
|
rs17604693
|
0.02655
|
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val)
|
rs4790235
|
0.02635
|
NM_004415.4(DSP):c.1903+7T>C
|
rs28763962
|
0.02605
|
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)
|
rs73996414
|
0.02579
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_004006.3(DMD):c.2623-11C>G
|
rs1028360
|
0.02567
|
NM_024334.3(TMEM43):c.163-14C>T
|
rs113745859
|
0.02553
|
NM_001035.3(RYR2):c.8437-7dup
|
rs148246251
|
0.02544
|
NM_003719.5(PDE8B):c.1366-5G>A
|
rs79008179
|
0.02537
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02522
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
NM_001127198.5(TMC6):c.2021+11C>T
|
rs143140501
|
0.02510
|
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)
|
rs114234874
|
0.02502
|
NM_000214.3(JAG1):c.270G>T (p.Gly90=)
|
rs114048678
|
0.02490
|
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)
|
rs34836829
|
0.02488
|
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=)
|
rs140406501
|
0.02486
|
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val)
|
rs61734789
|
0.02478
|
NM_020877.5(DNAH2):c.12974C>G (p.Pro4325Arg)
|
rs116930996
|
0.02472
|
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile)
|
rs1800961
|
0.02469
|
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=)
|
rs16869039
|
0.02440
|
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)
|
rs61884288
|
0.02435
|
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)
|
rs35683768
|
0.02431
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_000091.5(COL4A3):c.933+14T>C
|
rs55928538
|
0.02412
|
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=)
|
rs61004744
|
0.02387
|
NM_001164508.2(NEB):c.612+8T>C
|
rs113095802
|
0.02379
|
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)
|
rs61753944
|
0.02377
|
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
NM_000214.3(JAG1):c.924C>T (p.Asn308=)
|
rs45575136
|
0.02367
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02363
|
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln)
|
rs73175207
|
0.02358
|
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys)
|
rs72989738
|
0.02353
|
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)
|
rs73036398
|
0.02352
|
NM_000395.3(CSF2RB):c.2400G>A (p.Pro800=)
|
rs1801116
|
0.02350
|
NM_001035.3(RYR2):c.9449+8T>A
|
rs60777199
|
0.02348
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=)
|
rs74327115
|
0.02341
|
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp)
|
rs55752937
|
0.02339
|
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)
|
rs41311343
|
0.02332
|
NM_133379.5(TTN):c.13476C>T (p.Asp4492=)
|
rs72648904
|
0.02326
|
NM_001122659.3(EDNRB):c.*1767C>T
|
rs3027092
|
0.02325
|
NM_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_000501.4(ELN):c.2086+5G>C
|
rs111866046
|
0.02303
|
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)
|
rs11896293
|
0.02293
|
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=)
|
rs12373107
|
0.02286
|
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn)
|
rs2228545
|
0.02286
|
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly)
|
rs35998949
|
0.02275
|
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)
|
rs11789099
|
0.02275
|
NM_002834.5(PTPN11):c.255C>T (p.His85=)
|
rs61736914
|
0.02271
|
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02253
|
NM_015340.4(LARS2):c.972C>A (p.His324Gln)
|
rs71645922
|
0.02237
|
NM_001164508.2(NEB):c.8466C>T (p.His2822=)
|
rs61730771
|
0.02236
|
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys)
|
rs111033430
|
0.02235
|
NM_005173.4(ATP2A3):c.2020C>T (p.Arg674Cys)
|
rs9895012
|
0.02226
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)
|
rs34954751
|
0.02208
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=)
|
rs55847232
|
0.02188
|
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile)
|
rs116605521
|
0.02188
|
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=)
|
rs2303829
|
0.02187
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=)
|
rs72648932
|
0.02158
|
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)
|
rs35445420
|
0.02143
|
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)
|
rs55675869
|
0.02132
|
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys)
|
rs35879351
|
0.02129
|
NM_001927.4(DES):c.1026C>T (p.Asn342=)
|
rs61731508
|
0.02125
|
NM_001232.4(CASQ2):c.1014+9C>T
|
rs77775029
|
0.02121
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)
|
rs28730712
|
0.02116
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02114
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=)
|
rs55895721
|
0.02109
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)
|
rs34927702
|
0.02105
|
NM_020433.5(JPH2):c.1289-7C>T
|
rs116986535
|
0.02105
|
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)
|
rs41277797
|
0.02093
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
|
rs16990264
|
0.02084
|
NM_005144.5(HR):c.1859G>A (p.Arg620Gln)
|
rs117197822
|
0.02084
|
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg)
|
rs2288563
|
0.02080
|
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)
|
rs2303607
|
0.02075
|
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)
|
rs2303832
|
0.02072
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=)
|
rs2288566
|
0.02055
|
NM_001199107.2(TBC1D24):c.1143-6C>T
|
rs73490287
|
0.02047
|
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys)
|
rs62636730
|
0.02044
|
NM_012106.4(ARL2BP):c.259G>A (p.Glu87Lys)
|
rs7198865
|
0.02043
|
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile)
|
rs4987076
|
0.02032
|
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His)
|
rs61745498
|
0.02028
|
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)
|
rs41312104
|
0.02014
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02012
|
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
0.01999
|
NM_001267550.2(TTN):c.87669T>C (p.His29223=)
|
rs72648229
|
0.01997
|
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)
|
rs12621078
|
0.01996
|
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His)
|
rs3813245
|
0.01993
|
NM_033118.4(MYLK2):c.1082+11G>A
|
rs76530988
|
0.01993
|
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala)
|
rs56018860
|
0.01992
|
NM_001267550.2(TTN):c.91852+8T>A
|
rs56145100
|
0.01992
|
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly)
|
rs72648257
|
0.01992
|
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)
|
rs3731745
|
0.01991
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01991
|
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser)
|
rs3813246
|
0.01989
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01985
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01984
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
NM_017637.6(BNC2):c.2768C>T (p.Ala923Val)
|
rs117452684
|
0.01981
|
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)
|
rs72648260
|
0.01980
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val)
|
rs75191159
|
0.01965
|
NM_006915.3(RP2):c.844C>T (p.Arg282Trp)
|
rs1805147
|
0.01957
|
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)
|
rs72648950
|
0.01956
|
NM_000237.3(LPL):c.106G>A (p.Asp36Asn)
|
rs1801177
|
0.01951
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
NM_173628.4(DNAH17):c.12854G>A (p.Arg4285Gln)
|
rs35973257
|
0.01936
|
NM_153700.2(STRC):c.3360T>C (p.Cys1120=)
|
rs56385906
|
0.01920
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01917
|
NM_201384.3(PLEC):c.342+13G>A
|
rs115664009
|
0.01917
|
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val)
|
rs35997569
|
0.01914
|
NM_133379.5(TTN):c.13869T>G (p.Ser4623=)
|
rs72648906
|
0.01910
|
NM_032638.5(GATA2):c.1233G>A (p.Ala411=)
|
rs34172218
|
0.01909
|
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met)
|
rs2460169
|
0.01906
|
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)
|
rs75909145
|
0.01900
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)
|
rs2229792
|
0.01881
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01872
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile)
|
rs62347360
|
0.01871
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01865
|
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro)
|
rs117203086
|
0.01848
|
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg)
|
rs62620248
|
0.01839
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val)
|
rs114331773
|
0.01832
|
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe)
|
rs57389274
|
0.01798
|
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=)
|
rs5739
|
0.01794
|
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)
|
rs115517108
|
0.01785
|
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn)
|
rs72647843
|
0.01782
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01772
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
NM_001267550.2(TTN):c.22611T>C (p.His7537=)
|
rs16866469
|
0.01765
|
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys)
|
rs3970559
|
0.01765
|
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln)
|
rs35974308
|
0.01764
|
NM_152732.5(RSPH9):c.671-4259C>T
|
rs41281830
|
0.01763
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)
|
rs34162630
|
0.01756
|
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val)
|
rs80243096
|
0.01747
|
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)
|
rs35662416
|
0.01746
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=)
|
rs75206601
|
0.01733
|
NR_001566.1(TERC):n.58G>A
|
rs113487931
|
0.01733
|
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu)
|
rs41270201
|
0.01730
|
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)
|
rs56027402
|
0.01724
|
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile)
|
rs72648903
|
0.01724
|
NM_003476.5(CSRP3):c.312C>G (p.Thr104=)
|
rs45582433
|
0.01721
|
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser)
|
rs35349917
|
0.01717
|
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)
|
rs72648962
|
0.01709
|
NM_173630.4(RTTN):c.2055+7C>T
|
rs117843366
|
0.01697
|
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn)
|
rs35625617
|
0.01691
|
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)
|
rs35984374
|
0.01679
|
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)
|
rs6889939
|
0.01679
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val)
|
rs79915053
|
0.01674
|
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)
|
rs34423165
|
0.01671
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01656
|
NM_018897.3(DNAH7):c.6161A>G (p.Tyr2054Cys)
|
rs62623377
|
0.01654
|
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)
|
rs5742912
|
0.01653
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val)
|
rs72648954
|
0.01649
|
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)
|
rs41291187
|
0.01638
|
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=)
|
rs28657061
|
0.01636
|
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe)
|
rs72648270
|
0.01635
|
NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)
|
rs56376197
|
0.01633
|
NM_033337.3(CAV3):c.171G>A (p.Val57=)
|
rs61147808
|
0.01628
|
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile)
|
rs34773557
|
0.01615
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01611
|
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser)
|
rs79760961
|
0.01604
|
NM_032495.6(HOPX):c.87G>A (p.Glu29=)
|
rs11555052
|
0.01597
|
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=)
|
rs142518033
|
0.01592
|
NM_212550.5(BLOC1S3):c.366C>T (p.His122=)
|
rs571269735
|
0.01592
|
NM_002230.4(JUP):c.867C>T (p.Thr289=)
|
rs2230407
|
0.01591
|
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=)
|
rs72646847
|
0.01577
|
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)
|
rs2230158
|
0.01567
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_001614.5(ACTG1):c.729C>T (p.Pro243=)
|
rs2230159
|
0.01563
|
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly)
|
rs41288773
|
0.01560
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met)
|
rs7771303
|
0.01556
|
NM_007078.3(LDB3):c.609G>A (p.Ser203=)
|
rs45531131
|
0.01554
|
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys)
|
rs80356569
|
0.01549
|
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)
|
rs45608038
|
0.01548
|
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser)
|
rs12110554
|
0.01544
|
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)
|
rs80356578
|
0.01544
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
NM_005411.5(SFTPA1):c.606C>T (p.Asp202=)
|
rs1059058
|
0.01532
|
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)
|
rs56229512
|
0.01531
|
NM_002473.6(MYH9):c.3838-12C>T
|
rs113698937
|
0.01529
|
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)
|
rs28730849
|
0.01527
|
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=)
|
rs16869083
|
0.01524
|
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)
|
rs66523653
|
0.01518
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=)
|
rs61731141
|
0.01509
|
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)
|
rs61747516
|
0.01505
|
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)
|
rs62288347
|
0.01504
|
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys)
|
rs62618736
|
0.01503
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_006005.3(WFS1):c.2469C>T (p.Ile823=)
|
rs1801215
|
0.01494
|
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=)
|
rs61001398
|
0.01493
|
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser)
|
rs72842957
|
0.01485
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys)
|
rs79926414
|
0.01477
|
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)
|
rs45555435
|
0.01476
|
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val)
|
rs16902880
|
0.01472
|
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln)
|
rs3135103
|
0.01472
|
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr)
|
rs143663847
|
0.01456
|
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)
|
rs56307213
|
0.01455
|
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met)
|
rs113513807
|
0.01455
|
NM_003664.5(AP3B1):c.339A>C (p.Ala113=)
|
rs7706167
|
0.01450
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)
|
rs7140196
|
0.01445
|
NM_001276345.2(TNNT2):c.163+12G>A
|
rs45580032
|
0.01441
|
NM_144672.4(OTOA):c.2382G>A (p.Gln794=)
|
rs143890524
|
0.01441
|
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=)
|
rs11570097
|
0.01438
|
NM_000175.5(GPI):c.623T>C (p.Ile208Thr)
|
rs8191371
|
0.01437
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
NM_006005.3(WFS1):c.9C>T (p.Ser3=)
|
rs71524363
|
0.01435
|
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln)
|
rs28526657
|
0.01433
|
NM_000395.3(CSF2RB):c.2430C>A (p.Pro810=)
|
rs2228092
|
0.01431
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=)
|
rs55757622
|
0.01419
|
NM_000257.4(MYH7):c.1002C>T (p.Asn334=)
|
rs34803781
|
0.01418
|
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)
|
rs11570076
|
0.01409
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
NM_002471.4(MYH6):c.3979-7del
|
rs397516766
|
0.01401
|
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)
|
rs36043230
|
0.01390
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=)
|
rs41303346
|
0.01390
|
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=)
|
rs79705634
|
0.01389
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
NM_001089.3(ABCA3):c.448-14C>G
|
rs62040683
|
0.01376
|
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=)
|
rs28610521
|
0.01376
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=)
|
rs41313699
|
0.01360
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn)
|
rs72955213
|
0.01357
|
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile)
|
rs16866457
|
0.01351
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr)
|
rs78457662
|
0.01346
|
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)
|
rs34070843
|
0.01345
|
NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu)
|
rs151058706
|
0.01345
|
NM_002471.4(MYH6):c.399G>A (p.Val133=)
|
rs78891557
|
0.01343
|
NM_004415.4(DSP):c.4773G>A (p.Arg1591=)
|
rs28763968
|
0.01341
|
NM_001277115.2(DNAH11):c.6683+13C>G
|
rs17145077
|
0.01337
|
NM_170682.4(P2RX2):c.554+14C>A
|
rs151253585
|
0.01337
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
NM_133379.5(TTN):c.13608C>T (p.Ser4536=)
|
rs72648905
|
0.01336
|
NM_001035.3(RYR2):c.6928+4G>A
|
rs79862521
|
0.01335
|
NM_001277115.2(DNAH11):c.9337-9T>C
|
rs72657378
|
0.01332
|
NM_001194.4(HCN2):c.1584+7C>T
|
rs55978915
|
0.01331
|
NM_012268.4(PLD3):c.1326G>A (p.Ala442=)
|
rs4819
|
0.01329
|
NM_000395.3(CSF2RB):c.934G>A (p.Asp312Asn)
|
rs117805308
|
0.01316
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01316
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)
|
rs6880264
|
0.01314
|
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)
|
rs3729816
|
0.01311
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_001267550.2(TTN):c.2949C>T (p.Ile983=)
|
rs56310516
|
0.01308
|
NM_012079.6(DGAT1):c.455A>G (p.Lys152Arg)
|
rs55907012
|
0.01307
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01305
|
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)
|
rs2228387
|
0.01303
|
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)
|
rs16866475
|
0.01294
|
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=)
|
rs56226196
|
0.01290
|
NM_201384.3(PLEC):c.2217G>A (p.Gln739=)
|
rs116612406
|
0.01288
|
NM_032122.5(DTNBP1):c.811+78C>T
|
rs16876571
|
0.01287
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01275
|
NM_000077.5(CDKN2A):c.-25C>T
|
rs144481587
|
0.01273
|
NM_031900.4(AGXT2):c.1188+1G>A
|
rs114286107
|
0.01270
|
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=)
|
rs61730772
|
0.01264
|
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=)
|
rs16866467
|
0.01263
|
NM_170682.4(P2RX2):c.1302G>A (p.Pro434=)
|
rs114276183
|
0.01262
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)
|
rs72647877
|
0.01259
|
NM_001277115.2(DNAH11):c.9102+8G>A
|
rs72657374
|
0.01255
|
NM_001904.4(CTNNB1):c.2340C>T (p.Asp780=)
|
rs2293303
|
0.01246
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
NM_004004.6(GJB2):c.-216T>G
|
rs574815423
|
0.01243
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=)
|
rs17849079
|
0.01239
|
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser)
|
rs61735304
|
0.01236
|
NM_001943.5(DSG2):c.217-5G>T
|
rs80073511
|
0.01232
|
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)
|
rs35019869
|
0.01231
|
NM_003803.4(MYOM1):c.91C>A (p.Arg31=)
|
rs76382984
|
0.01227
|
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=)
|
rs17586159
|
0.01226
|
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=)
|
rs35404804
|
0.01226
|
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu)
|
rs148429731
|
0.01214
|
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn)
|
rs35766971
|
0.01214
|
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)
|
rs72629779
|
0.01213
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01212
|
NM_004006.3(DMD):c.3021G>A (p.Ser1007=)
|
rs1800268
|
0.01212
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu)
|
rs4759043
|
0.01201
|
NM_001267550.2(TTN):c.1003G>A (p.Val335Met)
|
rs72647846
|
0.01195
|
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)
|
rs35727744
|
0.01194
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
0.01192
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val)
|
rs17144788
|
0.01186
|
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val)
|
rs55853696
|
0.01185
|
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile)
|
rs72650028
|
0.01184
|
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)
|
rs67041405
|
0.01183
|
NM_000081.4(LYST):c.9C>T (p.Thr3=)
|
rs33998267
|
0.01172
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
NM_001267550.2(TTN):c.1398+8C>T
|
rs72647848
|
0.01171
|
NM_001614.5(ACTG1):c.177G>A (p.Gln59=)
|
rs11549220
|
0.01161
|
NM_004415.4(DSP):c.3963G>A (p.Gln1321=)
|
rs61731476
|
0.01161
|
NM_000257.4(MYH7):c.3972+15C>T
|
rs3729820
|
0.01159
|
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)
|
rs62621206
|
0.01151
|
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)
|
rs55880440
|
0.01150
|
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=)
|
rs5349
|
0.01149
|
NM_153700.2(STRC):c.4127+8C>T
|
rs2470137
|
0.01144
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=)
|
rs41303257
|
0.01136
|
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter)
|
rs45621032
|
0.01134
|
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile)
|
rs35791889
|
0.01134
|
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=)
|
rs77791584
|
0.01133
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
NM_002880.3(RAF1):c.-415-1C>G
|
rs61730434
|
0.01127
|
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr)
|
rs111033530
|
0.01127
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr)
|
rs12720442
|
0.01115
|
NM_004333.6(BRAF):c.-19C>T
|
rs71645935
|
0.01115
|
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)
|
rs189089167
|
0.01110
|
NM_000328.3(RPGR):c.2242-8T>C
|
rs112368541
|
0.01109
|
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)
|
rs5352
|
0.01109
|
NM_153676.4(USH1C):c.819+10G>C
|
rs41282936
|
0.01105
|
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp)
|
rs2296610
|
0.01104
|
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr)
|
rs61733578
|
0.01102
|
NM_032119.4(ADGRV1):c.7945+6C>T
|
rs139278305
|
0.01100
|
NM_001943.5(DSG2):c.3243C>T (p.Val1081=)
|
rs11542379
|
0.01097
|
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)
|
rs371877084
|
0.01088
|
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)
|
rs67254537
|
0.01080
|
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)
|
rs66961115
|
0.01079
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)
|
rs34155804
|
0.01079
|
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)
|
rs77555300
|
0.01077
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)
|
rs36049418
|
0.01075
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01075
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)
|
rs78039319
|
0.01071
|
NM_006005.3(WFS1):c.1800C>T (p.Thr600=)
|
rs71524362
|
0.01070
|
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=)
|
rs72955212
|
0.01069
|
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser)
|
rs1805069
|
0.01068
|
NM_001276345.2(TNNT2):c.294+7G>A
|
rs45490292
|
0.01066
|
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala)
|
rs35261863
|
0.01065
|
NM_001089.3(ABCA3):c.-9A>G
|
rs78286222
|
0.01064
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)
|
rs115852080
|
0.01060
|
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu)
|
rs111965755
|
0.01059
|
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)
|
rs36039758
|
0.01056
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_002471.4(MYH6):c.2946G>A (p.Glu982=)
|
rs145274612
|
0.01048
|
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)
|
rs17850455
|
0.01048
|
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln)
|
rs41289902
|
0.01045
|
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)
|
rs719202
|
0.01042
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_002834.5(PTPN11):c.525+12G>C
|
rs41304351
|
0.01035
|
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly)
|
rs6054614
|
0.01033
|
NM_001035.3(RYR2):c.11880+13_11880+16del
|
rs199562036
|
0.01032
|
NM_177438.3(DICER1):c.-45-4405C>T
|
rs140969547
|
0.01032
|
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)
|
rs73036373
|
0.01031
|
NM_001035.3(RYR2):c.2397-6C>T
|
rs78165942
|
0.01029
|
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
|
rs17885216
|
0.01029
|
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)
|
rs117761837
|
0.01028
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.01020
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)
|
rs35636875
|
0.01015
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)
|
rs72648951
|
0.01012
|
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=)
|
rs146191243
|
0.01011
|
NM_172245.4(CSF2RA):c.223A>G (p.Ser75Gly)
|
rs149059494
|
0.01010
|
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)
|
rs1800269
|
0.01009
|
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
NM_018046.5(AGGF1):c.397G>A (p.Glu133Lys)
|
rs34203073
|
0.01003
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val)
|
rs16868935
|
0.01001
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)
|
rs41314453
|
0.01000
|
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser)
|
rs56398830
|
0.00998
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=)
|
rs75480336
|
0.00991
|
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=)
|
rs78369334
|
0.00989
|
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)
|
rs118143944
|
0.00983
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00981
|
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu)
|
rs76491994
|
0.00978
|
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
|
rs34819099
|
0.00971
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
NM_000479.5(AMH):c.974A>G (p.Gln325Arg)
|
rs140765565
|
0.00966
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys)
|
rs61729833
|
0.00965
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val)
|
rs115109673
|
0.00961
|
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)
|
rs35007621
|
0.00961
|
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu)
|
rs45592139
|
0.00960
|
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=)
|
rs61734313
|
0.00959
|
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)
|
rs34617762
|
0.00959
|
NM_001267550.2(TTN):c.17741-9A>G
|
rs72648944
|
0.00958
|
NM_032119.4(ADGRV1):c.1839+7G>A
|
rs142011700
|
0.00957
|
NM_000204.5(CFI):c.1534+5G>T
|
rs114013791
|
0.00951
|
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=)
|
rs114819374
|
0.00947
|
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168
|
0.00946
|
NM_001035.3(RYR2):c.2204-7C>G
|
rs147479514
|
0.00944
|
NM_001130987.2(DYSF):c.3757-12C>T
|
rs114968209
|
0.00943
|
NM_014946.4(SPAST):c.879G>A (p.Pro293=)
|
rs145264166
|
0.00943
|
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)
|
rs61734951
|
0.00943
|
NM_007078.3(LDB3):c.1506G>A (p.Pro502=)
|
rs45579241
|
0.00941
|
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)
|
rs116474260
|
0.00939
|
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=)
|
rs147871745
|
0.00930
|
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=)
|
rs373345984
|
0.00929
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
NM_001292063.2(OTOG):c.2512G>C (p.Gly838Arg)
|
rs61734214
|
0.00925
|
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)
|
rs28763967
|
0.00925
|
NM_000336.3(SCNN1B):c.1781C>T (p.Thr594Met)
|
rs1799979
|
0.00918
|
NM_000337.5(SGCD):c.-179A>G
|
rs77808502
|
0.00918
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)
|
rs62151609
|
0.00915
|
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
|
rs58238559
|
0.00910
|
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)
|
rs72629787
|
0.00909
|
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_022124.6(CDH23):c.1449+74G>T
|
rs115450602
|
0.00906
|
NM_018897.3(DNAH7):c.1139T>G (p.Met380Arg)
|
rs144390858
|
0.00904
|
NM_023036.6(DNAI2):c.234G>A (p.Glu78=)
|
rs35985071
|
0.00904
|
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys)
|
rs192289289
|
0.00900
|
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)
|
rs35942089
|
0.00900
|
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
|
rs149030303
|
0.00897
|
NM_194248.3(OTOF):c.710+10C>T
|
rs55639868
|
0.00890
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_000548.5(TSC2):c.4990-7C>T
|
rs45457095
|
0.00888
|
NM_006393.3(NEBL):c.2057T>C (p.Val686Ala)
|
rs74120667
|
0.00888
|
NM_020877.5(DNAH2):c.492G>A (p.Arg164=)
|
rs117035657
|
0.00887
|
NM_020877.5(DNAH2):c.2648C>T (p.Ser883Leu)
|
rs118057786
|
0.00885
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
NM_001042545.2(LTBP4):c.2812+6C>T
|
rs190107102
|
0.00874
|
NM_001010892.3(RSPH4A):c.1798+11G>A
|
rs41290844
|
0.00873
|
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)
|
rs141309384
|
0.00866
|
NM_203447.4(DOCK8):c.3840+3A>G
|
rs16938572
|
0.00865
|
NM_001276345.2(TNNT2):c.68-8A>G
|
rs115805892
|
0.00864
|
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
|
rs3729823
|
0.00861
|
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln)
|
rs56054534
|
0.00860
|
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)
|
rs41311123
|
0.00859
|
NM_004100.5(EYA4):c.1845C>T (p.Asn615=)
|
rs142721902
|
0.00854
|
NM_000257.4(MYH7):c.597A>G (p.Ala199=)
|
rs2069541
|
0.00853
|
NM_000037.4(ANK1):c.5544+91C>T
|
rs72638959
|
0.00849
|
NM_006005.3(WFS1):c.930A>G (p.Ala310=)
|
rs115561278
|
0.00845
|
NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=)
|
rs150362958
|
0.00844
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00844
|
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala)
|
rs71535732
|
0.00843
|
NM_001201397.2(EDNRB):c.39G>T (p.Pro13=)
|
rs138247915
|
0.00842
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_005544.3(IRS1):c.2452G>C (p.Gly818Arg)
|
rs41265094
|
0.00841
|
NM_024334.3(TMEM43):c.222C>T (p.Pro74=)
|
rs34099410
|
0.00841
|
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro)
|
rs464696
|
0.00839
|
NM_016239.4(MYO15A):c.4206+13C>G
|
rs141183007
|
0.00838
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00835
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)
|
rs2754155
|
0.00831
|
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys)
|
rs139160176
|
0.00831
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
NM_005460.4(SNCAIP):c.2125G>C (p.Glu709Gln)
|
rs55712196
|
0.00826
|
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys)
|
rs61735393
|
0.00824
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met)
|
rs140447165
|
0.00815
|
NM_000478.6(ALPL):c.455G>A (p.Arg152His)
|
rs149344982
|
0.00814
|
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys)
|
rs35062203
|
0.00814
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)
|
rs140869992
|
0.00811
|
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)
|
rs114152068
|
0.00810
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=)
|
rs35963491
|
0.00809
|
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)
|
rs55806007
|
0.00808
|
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile)
|
rs74604638
|
0.00808
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)
|
rs144635565
|
0.00806
|
NM_133379.5(TTN):c.14244T>C (p.Leu4748=)
|
rs139669372
|
0.00806
|
NM_194248.3(OTOF):c.2025G>A (p.Glu675=)
|
rs61746988
|
0.00801
|
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn)
|
rs52815063
|
0.00800
|
NM_013254.4(TBK1):c.2139-11G>A
|
rs41292027
|
0.00800
|
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe)
|
rs35322815
|
0.00800
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
NM_001369.3(DNAH5):c.6579+6A>G
|
rs141389162
|
0.00798
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_001164508.2(NEB):c.24208-7C>T
|
rs113048349
|
0.00793
|
NM_005379.4(MYO1A):c.1517G>C (p.Cys506Ser)
|
rs12297756
|
0.00793
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met)
|
rs114274755
|
0.00791
|
NM_000260.4(MYO7A):c.1798-15C>T
|
rs115708180
|
0.00789
|
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=)
|
rs35914325
|
0.00788
|
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)
|
rs56219475
|
0.00787
|
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg)
|
rs71578975
|
0.00786
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470
|
0.00784
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr)
|
rs138787974
|
0.00778
|
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly)
|
rs16978578
|
0.00777
|
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)
|
rs55886356
|
0.00774
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00774
|
NM_006005.3(WFS1):c.1308C>T (p.Thr436=)
|
rs71539646
|
0.00773
|
NM_001277115.2(DNAH11):c.11200A>C (p.Lys3734Gln)
|
rs114257197
|
0.00770
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile)
|
rs61688134
|
0.00769
|
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)
|
rs111033429
|
0.00767
|
NM_001089.3(ABCA3):c.4165-8G>A
|
rs138769732
|
0.00766
|
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn)
|
rs34093919
|
0.00763
|
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=)
|
rs577023485
|
0.00762
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
NM_002230.4(JUP):c.1942G>A (p.Val648Ile)
|
rs143043662
|
0.00760
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00758
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=)
|
rs150612172
|
0.00757
|
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)
|
rs143414291
|
0.00754
|
NM_002230.4(JUP):c.1563A>G (p.Ala521=)
|
rs149926974
|
0.00753
|
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=)
|
rs137914723
|
0.00748
|
NM_001384140.1(PCDH15):c.4672-1637G>A
|
rs139441645
|
0.00746
|
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys)
|
rs62001050
|
0.00745
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)
|
rs111033477
|
0.00740
|
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile)
|
rs147895473
|
0.00739
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)
|
rs34150427
|
0.00734
|
NM_000395.3(CSF2RB):c.1153-13T>C
|
rs117405606
|
0.00731
|
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln)
|
rs56332208
|
0.00731
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=)
|
rs112661328
|
0.00729
|
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=)
|
rs111638554
|
0.00728
|
NM_004085.4(TIMM8A):c.-6C>T
|
rs180806413
|
0.00726
|
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)
|
rs138292988
|
0.00725
|
NM_153676.4(USH1C):c.2547-8A>G
|
rs78509055
|
0.00720
|
NM_213569.2(NEBL):c.357T>C (p.Asn119=)
|
rs115708584
|
0.00720
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)
|
rs1801505
|
0.00719
|
NM_000260.4(MYO7A):c.133-14C>T
|
rs116228809
|
0.00719
|
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)
|
rs77351975
|
0.00719
|
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln)
|
rs72646851
|
0.00718
|
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)
|
rs183531840
|
0.00717
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)
|
rs138007679
|
0.00716
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_001038.6(SCNN1A):c.-48A>G
|
rs150809388
|
0.00712
|
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu)
|
rs74632023
|
0.00712
|
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)
|
rs112571971
|
0.00706
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)
|
rs72646832
|
0.00703
|
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys)
|
rs72646833
|
0.00702
|
NM_004316.4(ASCL1):c.123A>G (p.Ala41=)
|
rs558732328
|
0.00702
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)
|
rs17452588
|
0.00701
|
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu)
|
rs72648976
|
0.00701
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)
|
rs17354992
|
0.00698
|
NM_170665.4(ATP2A2):c.-10C>G
|
rs201929640
|
0.00698
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=)
|
rs72646827
|
0.00697
|
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)
|
rs55984131
|
0.00696
|
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile)
|
rs75397806
|
0.00696
|
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)
|
rs62639702
|
0.00695
|
NM_001267550.2(TTN):c.32722+9G>A
|
rs148231130
|
0.00695
|
NM_001927.4(DES):c.735+20C>T
|
rs151226355
|
0.00694
|
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)
|
rs16962093
|
0.00694
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
NM_001292063.2(OTOG):c.1797G>A (p.Arg599=)
|
rs73418068
|
0.00690
|
NM_022124.6(CDH23):c.1134+22C>T
|
rs115745871
|
0.00690
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)
|
rs41266697
|
0.00686
|
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met)
|
rs61757218
|
0.00685
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00683
|
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)
|
rs77257306
|
0.00682
|
NM_024867.4(SPEF2):c.3802-8G>A
|
rs138022749
|
0.00682
|
NM_000337.6(SGCD):c.507G>A (p.Ala169=)
|
rs10071079
|
0.00680
|
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=)
|
rs56710146
|
0.00680
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00680
|
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)
|
rs146708884
|
0.00677
|
NM_000092.5(COL4A4):c.666G>A (p.Pro222=)
|
rs111945121
|
0.00676
|
NM_000219.6(KCNE1):c.84G>A (p.Ser28=)
|
rs17173510
|
0.00676
|
NM_000038.6(APC):c.5265G>A (p.Ala1755=)
|
rs34506289
|
0.00675
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
NM_001038.6(SCNN1A):c.-28T>C
|
rs61759919
|
0.00673
|
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu)
|
rs142948530
|
0.00672
|
NM_006005.3(WFS1):c.2335G>A (p.Val779Met)
|
rs141328044
|
0.00672
|
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=)
|
rs73741539
|
0.00672
|
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=)
|
rs114908705
|
0.00671
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00669
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)
|
rs72648258
|
0.00667
|
NM_001127453.2(GSDME):c.577-15C>T
|
rs11970787
|
0.00666
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=)
|
rs79230542
|
0.00665
|
NM_022124.6(CDH23):c.2337G>A (p.Lys779=)
|
rs111033461
|
0.00664
|
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys)
|
rs117603931
|
0.00662
|
NM_001384474.1(LOXHD1):c.611-15T>C
|
rs146912450
|
0.00662
|
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)
|
rs35924492
|
0.00660
|
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)
|
rs144876996
|
0.00659
|
NM_014000.3(VCL):c.2801C>T (p.Ala934Val)
|
rs16931179
|
0.00658
|
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)
|
rs140029076
|
0.00658
|
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=)
|
rs117297079
|
0.00657
|
NM_024867.4(SPEF2):c.1262G>A (p.Arg421His)
|
rs139580877
|
0.00656
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_001042545.2(LTBP4):c.135C>T (p.Cys45=)
|
rs185400394
|
0.00654
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
NM_004230.4(S1PR2):c.857T>C (p.Val286Ala)
|
rs117064827
|
0.00652
|
NM_006073.4(TRDN):c.1538-13T>G
|
rs55704802
|
0.00651
|
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=)
|
rs144469613
|
0.00650
|
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg)
|
rs55778349
|
0.00647
|
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn)
|
rs36090425
|
0.00646
|
NM_004415.4(DSP):c.*9T>A
|
rs11558732
|
0.00645
|
NM_032119.4(ADGRV1):c.10769+9A>G
|
rs116184119
|
0.00645
|
NM_001035.3(RYR2):c.576+7G>C
|
rs10925392
|
0.00643
|
NM_001292063.2(OTOG):c.8168T>C (p.Leu2723Pro)
|
rs180703235
|
0.00643
|
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
|
rs28626194
|
0.00641
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
NM_000337.6(SGCD):c.294+8T>C
|
rs11748588
|
0.00640
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00640
|
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=)
|
rs146781877
|
0.00639
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_000492.4(CFTR):c.1680-871A>G
|
rs572658447
|
0.00636
|
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00636
|
NM_133379.5(TTN):c.16508G>C (p.Ser5503Thr)
|
rs16866489
|
0.00635
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr)
|
rs78763451
|
0.00634
|
NM_002764.4(PRPS1):c.456A>G (p.Leu152=)
|
rs61735617
|
0.00632
|
NM_002458.3(MUC5B):c.17043C>T (p.Cys5681=)
|
rs61734215
|
0.00631
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
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_194248.3(OTOF):c.145C>T (p.Arg49Trp)
|
rs61746568
|
0.00630
|
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val)
|
rs11924644
|
0.00629
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
NM_002458.3(MUC5B):c.15826G>T (p.Val5276Leu)
|
rs55893724
|
0.00624
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
NM_000275.3(OCA2):c.574-19A>G
|
rs145242923
|
0.00618
|
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)
|
rs28763961
|
0.00618
|
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)
|
rs187810163
|
0.00617
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
NM_001142784.3(IL11RA):c.128C>T (p.Ser43Phe)
|
rs76429508
|
0.00615
|
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)
|
rs56181243
|
0.00615
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)
|
rs34618570
|
0.00613
|
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser)
|
rs56204273
|
0.00613
|
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=)
|
rs111033495
|
0.00610
|
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)
|
rs72768728
|
0.00609
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
NM_001277115.2(DNAH11):c.1426-9T>C
|
rs72655983
|
0.00607
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
NM_001035.3(RYR2):c.14299-12A>G
|
rs41267519
|
0.00603
|
NM_001378609.3(OTOGL):c.5710G>A (p.Asp1904Asn)
|
rs145653077
|
0.00603
|
NM_004447.6(EPS8):c.1482T>C (p.Ser494=)
|
rs75560906
|
0.00602
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00601
|
NM_058246.4(DNAJB6):c.899-6C>T
|
rs78337193
|
0.00601
|
NM_001267550.2(TTN):c.45350-13T>C
|
rs113084617
|
0.00600
|
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)
|
rs121908970
|
0.00599
|
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr)
|
rs36083134
|
0.00599
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)
|
rs148450315
|
0.00596
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=)
|
rs116054301
|
0.00596
|
NM_002764.4(PRPS1):c.477C>T (p.Ile159=)
|
rs61752962
|
0.00596
|
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)
|
rs62000429
|
0.00596
|
NM_001042544.1(LTBP4):c.108G>A (p.Gln36=)
|
rs184935788
|
0.00595
|
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)
|
rs16998350
|
0.00594
|
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)
|
rs16866477
|
0.00593
|
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=)
|
rs146292053
|
0.00593
|
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly)
|
rs72647896
|
0.00591
|
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)
|
rs115070904
|
0.00590
|
NM_001384474.1(LOXHD1):c.2599-11C>T
|
rs150139569
|
0.00590
|
NM_024422.6(DSC2):c.1719C>T (p.Asn573=)
|
rs140167653
|
0.00590
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu)
|
rs116307796
|
0.00586
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr)
|
rs72648946
|
0.00585
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
NM_006012.4(CLPP):c.368-8G>A
|
rs143053584
|
0.00583
|
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp)
|
rs80297119
|
0.00582
|
NM_032119.4(ADGRV1):c.2553+11T>A
|
rs73181640
|
0.00580
|
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)
|
rs28730852
|
0.00579
|
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)
|
rs72554028
|
0.00578
|
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=)
|
rs114008185
|
0.00577
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
NM_001032283.3(TMPO):c.565+2487C>T
|
rs17028450
|
0.00576
|
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=)
|
rs45624133
|
0.00575
|
NM_001039141.3(TRIOBP):c.6472+10C>T
|
rs369182277
|
0.00575
|
NM_001134363.3(RBM20):c.1881-3C>T
|
rs138436392
|
0.00575
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
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_014908.4(DOLK):c.1dup (p.Met1fs)
|
rs531969689
|
0.00573
|
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)
|
rs113902911
|
0.00572
|
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu)
|
rs5746220
|
0.00571
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu)
|
rs33971253
|
0.00570
|
NM_005379.4(MYO1A):c.916G>A (p.Val306Met)
|
rs55679042
|
0.00570
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_001128840.3(CACNA1D):c.3870+13C>G
|
rs148858045
|
0.00567
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
NM_001292063.2(OTOG):c.8542-8C>T
|
rs182750732
|
0.00565
|
NM_005422.4(TECTA):c.790+12C>T
|
rs138644808
|
0.00563
|
NM_001384140.1(PCDH15):c.4671+1053A>C
|
rs149208928
|
0.00562
|
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu)
|
rs140909116
|
0.00562
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met)
|
rs188498736
|
0.00561
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
NM_000432.4(MYL2):c.381G>A (p.Ala127=)
|
rs2233261
|
0.00558
|
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)
|
rs73973147
|
0.00558
|
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr)
|
rs41307788
|
0.00558
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
|
rs147122501
|
0.00554
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
NM_002230.4(JUP):c.1774-13C>T
|
rs116772523
|
0.00553
|
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys)
|
rs141967872
|
0.00553
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
NM_001369.3(DNAH5):c.5115-4G>T
|
rs141141086
|
0.00551
|
NM_004960.4(FUS):c.*41G>A
|
rs80301724
|
0.00551
|
NM_001378609.3(OTOGL):c.5923T>C (p.Leu1975=)
|
rs73139245
|
0.00550
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
NM_002458.3(MUC5B):c.324C>T (p.Arg108=)
|
rs56168747
|
0.00550
|
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)
|
rs41311573
|
0.00548
|
NM_001384474.1(LOXHD1):c.5868C>T (p.His1956=)
|
rs114974101
|
0.00548
|
NM_004817.4(TJP2):c.61-7344G>C
|
rs73450853
|
0.00547
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00546
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=)
|
rs61740119
|
0.00542
|
NM_004004.6(GJB2):c.-23+12G>A
|
rs397516866
|
0.00541
|
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val)
|
rs147376000
|
0.00541
|
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=)
|
rs201733315
|
0.00539
|
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu)
|
rs74591375
|
0.00539
|
NM_001035.3(RYR2):c.14809-15C>G
|
rs790897
|
0.00538
|
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=)
|
rs144384573
|
0.00538
|
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=)
|
rs41313687
|
0.00537
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=)
|
rs374427407
|
0.00535
|
NM_001267550.2(TTN):c.42024+6T>C
|
rs140002940
|
0.00535
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser)
|
rs72556360
|
0.00534
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val)
|
rs79718972
|
0.00532
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)
|
rs75248449
|
0.00528
|
NM_000218.3(KCNQ1):c.720C>T (p.His240=)
|
rs28730754
|
0.00524
|
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)
|
rs72655977
|
0.00522
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00519
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00518
|
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr)
|
rs116480183
|
0.00517
|
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)
|
rs56044609
|
0.00516
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_022124.6(CDH23):c.3999G>A (p.Val1333=)
|
rs111033453
|
0.00516
|
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr)
|
rs73201156
|
0.00515
|
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)
|
rs41298747
|
0.00512
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser)
|
rs114745089
|
0.00511
|
NM_031475.3(ESPN):c.2070G>A (p.Ser690=)
|
rs142850918
|
0.00511
|
NM_000335.5(SCN5A):c.3508+10C>T
|
rs41258454
|
0.00510
|
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)
|
rs139512218
|
0.00510
|
NM_005633.4(SOS1):c.2167+6T>G
|
rs186640807
|
0.00510
|
NM_002309.5(LIF):c.256G>A (p.Val86Met)
|
rs41281637
|
0.00508
|
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile)
|
rs146624866
|
0.00508
|
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=)
|
rs147433902
|
0.00507
|
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=)
|
rs116354015
|
0.00506
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe)
|
rs113470661
|
0.00506
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
NM_032578.4(MYPN):c.1134C>T (p.Ile378=)
|
rs145701607
|
0.00504
|
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys)
|
rs77303974
|
0.00503
|
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu)
|
rs114918858
|
0.00501
|
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)
|
rs5346
|
0.00500
|
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)
|
rs72782753
|
0.00500
|
NM_003476.5(CSRP3):c.213C>T (p.Ile71=)
|
rs45476991
|
0.00499
|
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
|
rs76081119
|
0.00498
|
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)
|
rs144922355
|
0.00496
|
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)
|
rs117609395
|
0.00495
|
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=)
|
rs76463072
|
0.00494
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys)
|
rs147062294
|
0.00492
|
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)
|
rs1800094
|
0.00491
|
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)
|
rs114626713
|
0.00491
|
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)
|
rs56013867
|
0.00491
|
NM_002471.4(MYH6):c.330G>A (p.Ala110=)
|
rs77679218
|
0.00490
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00488
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750
|
0.00488
|
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=)
|
rs111033378
|
0.00488
|
NM_002471.4(MYH6):c.36G>A (p.Ala12=)
|
rs141014719
|
0.00487
|
NM_004999.4(MYO6):c.2982G>A (p.Glu994=)
|
rs55905349
|
0.00487
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
NM_153700.2(STRC):c.498G>A (p.Pro166=)
|
rs139848805
|
0.00486
|
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)
|
rs115324397
|
0.00485
|
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser)
|
rs148097083
|
0.00484
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys)
|
rs138139146
|
0.00483
|
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys)
|
rs140048925
|
0.00483
|
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=)
|
rs181591912
|
0.00482
|
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)
|
rs61753399
|
0.00482
|
NM_080860.4(RSPH1):c.365+13T>C
|
rs181902996
|
0.00482
|
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)
|
rs11904444
|
0.00481
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
NM_001382391.1(CSPP1):c.-121A>G
|
rs181470846
|
0.00481
|
NM_000071.3(CBS):c.531+11G>A
|
rs186114513
|
0.00479
|
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)
|
rs145806603
|
0.00479
|
NM_004999.4(MYO6):c.1656G>A (p.Lys552=)
|
rs111033431
|
0.00479
|
NM_206933.4(USH2A):c.5517G>A (p.Val1839=)
|
rs111033421
|
0.00479
|
NM_133379.5(TTN):c.13455T>C (p.Pro4485=)
|
rs146470872
|
0.00477
|
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_015404.4(WHRN):c.764G>A (p.Gly255Asp)
|
rs79509430
|
0.00475
|
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)
|
rs149637884
|
0.00473
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
NM_003573.2(LTBP4):c.2389+9A>G
|
rs73544980
|
0.00471
|
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=)
|
rs13285348
|
0.00471
|
NM_016239.4(MYO15A):c.6192G>A (p.Gly2064=)
|
rs55688805
|
0.00470
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)
|
rs2985688
|
0.00470
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
NM_144991.3(TSPEAR):c.702C>T (p.Asn234=)
|
rs117791519
|
0.00468
|
NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=)
|
rs34796681
|
0.00467
|
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr)
|
rs113745835
|
0.00467
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868
|
0.00467
|
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)
|
rs757355779
|
0.00466
|
NM_015340.4(LARS2):c.765G>A (p.Ala255=)
|
rs116272561
|
0.00466
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg)
|
rs139854607
|
0.00464
|
NM_001267550.2(TTN):c.33742+11A>G
|
rs72650042
|
0.00463
|
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=)
|
rs59933498
|
0.00463
|
NM_016616.5(NME8):c.528+11T>C
|
rs117681493
|
0.00463
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
NM_001035.3(RYR2):c.1863C>T (p.His621=)
|
rs17686573
|
0.00461
|
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=)
|
rs17073495
|
0.00461
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
NM_001277115.2(DNAH11):c.4501-7A>T
|
rs62447794
|
0.00461
|
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His)
|
rs200351672
|
0.00460
|
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)
|
rs34563188
|
0.00460
|
NM_024915.4(GRHL2):c.1500G>A (p.Thr500=)
|
rs34550163
|
0.00460
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_001386795.1(DTNA):c.210G>A (p.Leu70=)
|
rs117571555
|
0.00459
|
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)
|
rs201487340
|
0.00458
|
NM_022773.4(LMF1):c.1052G>A (p.Arg351Gln)
|
rs192520307
|
0.00458
|
NM_024915.4(GRHL2):c.1517+12A>G
|
rs142083150
|
0.00458
|
NM_001292063.2(OTOG):c.7045A>G (p.Ile2349Val)
|
rs191722806
|
0.00457
|
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser)
|
rs144634857
|
0.00455
|
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln)
|
rs150574114
|
0.00455
|
NM_003001.5(SDHC):c.354T>C (p.Phe118=)
|
rs61733156
|
0.00454
|
NM_005188.4(CBL):c.2710G>A (p.Val904Ile)
|
rs17122769
|
0.00454
|
NM_003672.4(CDC14A):c.819C>G (p.Ala273=)
|
rs28364884
|
0.00453
|
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)
|
rs111033338
|
0.00452
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_001292063.2(OTOG):c.3525+10C>A
|
rs113275496
|
0.00451
|
NM_002471.4(MYH6):c.1989C>T (p.Asn663=)
|
rs28730774
|
0.00451
|
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)
|
rs116826217
|
0.00451
|
NM_016239.4(MYO15A):c.5894G>A (p.Arg1965His)
|
rs139347804
|
0.00451
|
NR_029512.1(MIR96):n.42C>T
|
rs73159662
|
0.00451
|
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)
|
rs111033304
|
0.00450
|
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)
|
rs72657379
|
0.00449
|
NM_001384140.1(PCDH15):c.4671+1438A>C
|
rs16937768
|
0.00449
|
NM_004999.4(MYO6):c.1674+13A>G
|
rs6925845
|
0.00447
|
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
|
rs140463385
|
0.00447
|
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=)
|
rs112864477
|
0.00446
|
NM_001267550.2(TTN):c.*6C>A
|
rs188728343
|
0.00446
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val)
|
rs55645295
|
0.00445
|
NM_014000.3(VCL):c.1317T>C (p.Ser439=)
|
rs71579355
|
0.00442
|
NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg)
|
rs142751309
|
0.00442
|
NM_004281.4(BAG3):c.231G>A (p.Pro77=)
|
rs143752613
|
0.00441
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
NM_001384140.1(PCDH15):c.4671+1087C>T
|
rs12359240
|
0.00438
|
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=)
|
rs139129844
|
0.00438
|
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=)
|
rs73920281
|
0.00438
|
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg)
|
rs115039883
|
0.00438
|
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)
|
rs61750615
|
0.00437
|
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr)
|
rs12998234
|
0.00437
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
NM_002473.6(MYH9):c.1083C>T (p.Asp361=)
|
rs56001030
|
0.00436
|
NM_004006.3(DMD):c.1718C>T (p.Ala573Val)
|
rs5972599
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_002473.6(MYH9):c.2721C>T (p.Thr907=)
|
rs148112044
|
0.00435
|
NM_194248.3(OTOF):c.2215-19C>G
|
rs111033427
|
0.00434
|
NM_006073.4(TRDN):c.1721-4A>G
|
rs60743141
|
0.00430
|
NM_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919
|
0.00429
|
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys)
|
rs567966154
|
0.00428
|
NM_020297.4(ABCC9):c.142+15dup
|
rs571187142
|
0.00428
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_012208.4(HARS2):c.868C>T (p.Leu290=)
|
rs73273316
|
0.00427
|
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys)
|
rs146461956
|
0.00424
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_020433.5(JPH2):c.380-9C>G
|
rs111987307
|
0.00423
|
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)
|
rs191736346
|
0.00423
|
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)
|
rs61741524
|
0.00422
|
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)
|
rs73090721
|
0.00422
|
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=)
|
rs61529674
|
0.00421
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_031475.3(ESPN):c.1104T>G (p.Phe368Leu)
|
rs142638391
|
0.00418
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00418
|
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)
|
rs147240502
|
0.00417
|
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg)
|
rs143784823
|
0.00417
|
NM_001393500.2(TOMT):c.253G>A (p.Val85Ile)
|
rs181092713
|
0.00416
|
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)
|
rs142027794
|
0.00415
|
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)
|
rs115004914
|
0.00414
|
NM_014000.3(VCL):c.1177-15C>T
|
rs115083446
|
0.00414
|
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=)
|
rs56245532
|
0.00414
|
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)
|
rs72549416
|
0.00413
|
NM_002458.3(MUC5B):c.2429C>A (p.Thr810Asn)
|
rs190624357
|
0.00413
|
NM_002471.4(MYH6):c.4651-12A>C
|
rs193922653
|
0.00413
|
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=)
|
rs182293382
|
0.00413
|
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)
|
rs55816283
|
0.00412
|
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)
|
rs17881486
|
0.00412
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
NM_001384474.1(LOXHD1):c.1053G>A (p.Leu351=)
|
rs140842472
|
0.00409
|
NM_017433.5(MYO3A):c.1777-14G>T
|
rs4592324
|
0.00409
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His)
|
rs79654794
|
0.00408
|
NM_000335.5(SCN5A):c.717C>T (p.Ile239=)
|
rs41285129
|
0.00407
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00407
|
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg)
|
rs56314834
|
0.00406
|
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)
|
rs116592778
|
0.00406
|
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys)
|
rs2230232
|
0.00406
|
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His)
|
rs201012766
|
0.00405
|
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_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
|
rs76371972
|
0.00404
|
NM_206933.4(USH2A):c.8937A>G (p.Val2979=)
|
rs139100097
|
0.00404
|
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys)
|
rs143362381
|
0.00403
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile)
|
rs77419653
|
0.00403
|
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=)
|
rs142243054
|
0.00402
|
NM_001286445.3(RIPOR2):c.1613C>T (p.Ser538Leu)
|
rs142889670
|
0.00401
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00401
|
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu)
|
rs34035085
|
0.00401
|
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)
|
rs56169243
|
0.00400
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_016366.3(CABP2):c.188G>A (p.Arg63Gln)
|
rs149431491
|
0.00399
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met)
|
rs66839174
|
0.00398
|
NM_001376256.1(CRYM):c.807T>C (p.Phe269=)
|
rs144588424
|
0.00398
|
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)
|
rs62001052
|
0.00398
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00397
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
NM_001286445.3(RIPOR2):c.1773A>C (p.Leu591Phe)
|
rs143785002
|
0.00396
|
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr)
|
rs55814513
|
0.00396
|
NM_005422.4(TECTA):c.2781T>C (p.His927=)
|
rs142903119
|
0.00395
|
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)
|
rs7587103
|
0.00394
|
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala)
|
rs145294917
|
0.00394
|
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
|
rs2066733
|
0.00392
|
NM_001292063.2(OTOG):c.2967G>A (p.Pro989=)
|
rs11024331
|
0.00392
|
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=)
|
rs147336902
|
0.00391
|
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)
|
rs201586455
|
0.00391
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_006005.3(WFS1):c.917T>C (p.Met306Thr)
|
rs146114074
|
0.00389
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro)
|
rs28730751
|
0.00387
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=)
|
rs139408145
|
0.00386
|
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe)
|
rs187400273
|
0.00386
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)
|
rs41277374
|
0.00382
|
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln)
|
rs73181648
|
0.00381
|
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)
|
rs190981860
|
0.00381
|
NM_014000.3(VCL):c.1542C>T (p.Val514=)
|
rs7904077
|
0.00380
|
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)
|
rs199646135
|
0.00379
|
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met)
|
rs146590898
|
0.00379
|
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=)
|
rs376497158
|
0.00379
|
NM_022124.6(CDH23):c.9510+13C>T
|
rs183692794
|
0.00379
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=)
|
rs145837095
|
0.00378
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892
|
0.00378
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=)
|
rs45517354
|
0.00377
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_002473.6(MYH9):c.2229+13G>T
|
rs139146113
|
0.00377
|
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)
|
rs34580776
|
0.00376
|
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)
|
rs182004761
|
0.00376
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val)
|
rs34790864
|
0.00375
|
NM_001614.5(ACTG1):c.-6-3C>T
|
rs140724578
|
0.00374
|
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)
|
rs148197254
|
0.00374
|
NM_012156.2(EPB41L1):c.1245C>T (p.Pro415=)
|
rs77396561
|
0.00373
|
NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His)
|
rs111753827
|
0.00373
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)
|
rs144511230
|
0.00372
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)
|
rs199839743
|
0.00372
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00370
|
NM_024915.4(GRHL2):c.1098+9C>T
|
rs189993760
|
0.00370
|
NM_007078.3(LDB3):c.1263G>A (p.Gly421=)
|
rs139834701
|
0.00369
|
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn)
|
rs149202379
|
0.00369
|
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn)
|
rs111033494
|
0.00368
|
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)
|
rs79045813
|
0.00367
|
NM_001035.3(RYR2):c.13566C>T (p.Val4522=)
|
rs57360419
|
0.00366
|
NM_006005.3(WFS1):c.225C>T (p.Asp75=)
|
rs35216268
|
0.00366
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)
|
rs79572315
|
0.00364
|
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=)
|
rs142639517
|
0.00364
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00362
|
NM_000335.5(SCN5A):c.4434+13C>T
|
rs148598985
|
0.00361
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=)
|
rs139512700
|
0.00361
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)
|
rs73810366
|
0.00361
|
NM_181078.3(IL21R):c.137C>T (p.Thr46Met)
|
rs137946070
|
0.00360
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile)
|
rs76394680
|
0.00359
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)
|
rs143179070
|
0.00358
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_001114753.3(ENG):c.120C>T (p.Gly40=)
|
rs41522944
|
0.00355
|
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)
|
rs113861754
|
0.00355
|
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=)
|
rs17215493
|
0.00354
|
NM_001243133.2(NLRP3):c.1389C>T (p.His463=)
|
rs111400208
|
0.00354
|
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)
|
rs72648964
|
0.00354
|
NM_001379180.1(ESRRB):c.*1474T>C
|
rs188462546
|
0.00354
|
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn)
|
rs140437150
|
0.00354
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)
|
rs56002719
|
0.00354
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
NM_001114753.3(ENG):c.1096G>C (p.Asp366His)
|
rs1800956
|
0.00353
|
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)
|
rs41313697
|
0.00352
|
NM_001042492.3(NF1):c.4577+12C>T
|
rs17878332
|
0.00352
|
NM_005422.4(TECTA):c.-1-12T>C
|
rs145916279
|
0.00352
|
NM_005633.4(SOS1):c.2997T>C (p.Asn999=)
|
rs145364368
|
0.00352
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
NM_001378609.3(OTOGL):c.5227T>A (p.Leu1743Ile)
|
rs61729710
|
0.00351
|
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys)
|
rs119486097
|
0.00351
|
NM_133261.3(GIPC3):c.225+11C>T
|
rs185551765
|
0.00351
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)
|
rs45548237
|
0.00350
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_001243133.2(NLRP3):c.397+7G>A
|
rs192297357
|
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_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly)
|
rs35605307
|
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_001195263.2(PDZD7):c.572T>A (p.Val191Glu)
|
rs118098246
|
0.00348
|
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_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355
|
0.00347
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=)
|
rs144537241
|
0.00345
|
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=)
|
rs117237998
|
0.00345
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
NM_004281.4(BAG3):c.249C>A (p.His83Gln)
|
rs151331972
|
0.00344
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00343
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg)
|
rs114969026
|
0.00341
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455
|
0.00341
|
NM_194248.3(OTOF):c.2215-77T>G
|
rs76130130
|
0.00341
|
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)
|
rs113203706
|
0.00339
|
NM_005379.4(MYO1A):c.49G>C (p.Glu17Gln)
|
rs141658242
|
0.00339
|
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln)
|
rs61730262
|
0.00339
|
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)
|
rs149222801
|
0.00339
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu)
|
rs117005078
|
0.00338
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_194248.3(OTOF):c.5039G>A (p.Arg1680His)
|
rs11893228
|
0.00337
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228
|
0.00336
|
NM_001146079.2(CLDN14):c.*10G>C
|
rs139628442
|
0.00336
|
NM_006393.3(NEBL):c.480+3A>G
|
rs71578983
|
0.00336
|
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)
|
rs56165709
|
0.00336
|
NM_021116.4(ADCY1):c.2327+6T>A
|
rs75860455
|
0.00335
|
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)
|
rs201059992
|
0.00334
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00334
|
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn)
|
rs78535378
|
0.00334
|
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro)
|
rs61731652
|
0.00334
|
NM_194248.3(OTOF):c.42G>A (p.Arg14=)
|
rs6734111
|
0.00334
|
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)
|
rs116908219
|
0.00333
|
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg)
|
rs116593093
|
0.00333
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr)
|
rs72648923
|
0.00332
|
NM_005411.5(SFTPA1):c.342T>C (p.Phe114=)
|
rs1059056
|
0.00332
|
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg)
|
rs143253411
|
0.00332
|
NM_016239.4(MYO15A):c.5880C>T (p.His1960=)
|
rs201487604
|
0.00331
|
NM_001330691.3(CEP78):c.1780C>A (p.Gln594Lys)
|
rs61730342
|
0.00328
|
NM_057176.3(BSND):c.459C>T (p.Asp153=)
|
rs138974602
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_001378609.3(OTOGL):c.929G>A (p.Gly310Glu)
|
rs186616540
|
0.00327
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00327
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
NM_004817.4(TJP2):c.2992-8C>T
|
rs143965233
|
0.00327
|
NM_206933.4(USH2A):c.15297+3A>G
|
rs57754754
|
0.00327
|
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)
|
rs141671082
|
0.00327
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
0.00326
|
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp)
|
rs145292219
|
0.00326
|
NR_029512.1(MIR96):n.36T>C
|
rs41274239
|
0.00326
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_001032283.3(TMPO):c.*1A>G
|
rs1058300
|
0.00324
|
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)
|
rs181769913
|
0.00324
|
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)
|
rs184639841
|
0.00324
|
NM_006329.4(FBLN5):c.620-8T>C
|
rs147699855
|
0.00324
|
NM_016239.4(MYO15A):c.1158C>T (p.Gly386=)
|
rs186829587
|
0.00324
|
NM_022124.6(CDH23):c.4875G>A (p.Val1625=)
|
rs149664909
|
0.00324
|
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg)
|
rs41311625
|
0.00324
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)
|
rs72646891
|
0.00322
|
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)
|
rs55662069
|
0.00322
|
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)
|
rs138155747
|
0.00322
|
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys)
|
rs150273659
|
0.00321
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_005422.4(TECTA):c.690C>T (p.Ile230=)
|
rs34605023
|
0.00319
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00318
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
NM_004333.6(BRAF):c.1227A>G (p.Ser409=)
|
rs145035762
|
0.00318
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)
|
rs140003804
|
0.00317
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
NM_004281.4(BAG3):c.181-9T>A
|
rs139232658
|
0.00317
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00316
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918
|
0.00316
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_000117.3(EMD):c.144C>T (p.Leu48=)
|
rs200537612
|
0.00315
|
NM_001292063.2(OTOG):c.639G>T (p.Glu213Asp)
|
rs61736015
|
0.00315
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=)
|
rs367833904
|
0.00315
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_030930.4(UNC93B1):c.393-10C>T
|
rs117183629
|
0.00314
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00314
|
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)
|
rs143766955
|
0.00312
|
NM_001292063.2(OTOG):c.843G>A (p.Lys281=)
|
rs570688276
|
0.00312
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_007078.3(LDB3):c.147G>A (p.Val49=)
|
rs45591834
|
0.00312
|
NM_000336.3(SCNN1B):c.777-5T>C
|
rs61759915
|
0.00311
|
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)
|
rs28933390
|
0.00310
|
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=)
|
rs74324101
|
0.00310
|
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)
|
rs144486524
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser)
|
rs41271277
|
0.00309
|
NM_001145809.2(MYH14):c.4586G>A (p.Arg1529His)
|
rs185232438
|
0.00309
|
NM_002471.4(MYH6):c.1071C>T (p.Ile357=)
|
rs58131640
|
0.00309
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_194248.3(OTOF):c.1580-6C>T
|
rs114260271
|
0.00309
|
NM_194248.3(OTOF):c.1580-7G>T
|
rs116430138
|
0.00309
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp)
|
rs146709251
|
0.00308
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=)
|
rs189873733
|
0.00308
|
NM_138691.3(TMC1):c.2260+3_2260+5del
|
rs546307383
|
0.00308
|
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly)
|
rs72648931
|
0.00307
|
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)
|
rs72657389
|
0.00307
|
NM_004006.3(DMD):c.802T>C (p.Leu268=)
|
rs1800264
|
0.00307
|
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)
|
rs61731477
|
0.00306
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
NM_015690.5(STK36):c.1158T>C (p.Asp386=)
|
rs55839518
|
0.00306
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
NM_001384140.1(PCDH15):c.3717+8G>C
|
rs200556301
|
0.00305
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp)
|
rs202216463
|
0.00304
|
NM_005633.4(SOS1):c.2673+14T>C
|
rs183998234
|
0.00304
|
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr)
|
rs115123584
|
0.00303
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=)
|
rs199779296
|
0.00300
|
NM_001110219.3(GJB6):c.489G>A (p.Leu163=)
|
rs35002004
|
0.00300
|
NM_032383.5(HPS3):c.2055G>A (p.Leu685=)
|
rs140443498
|
0.00300
|
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)
|
rs113298164
|
0.00299
|
NM_014908.4(DOLK):c.186G>A (p.Arg62=)
|
rs148171062
|
0.00299
|
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)
|
rs111033458
|
0.00299
|
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)
|
rs142013761
|
0.00299
|
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=)
|
rs116446814
|
0.00299
|
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=)
|
rs28730858
|
0.00297
|
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu)
|
rs144875223
|
0.00297
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=)
|
rs200207753
|
0.00295
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)
|
rs148278887
|
0.00295
|
NM_001267550.2(TTN):c.2765G>A (p.Arg922His)
|
rs56046320
|
0.00295
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=)
|
rs111033483
|
0.00295
|
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00295
|
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
|
rs147390654
|
0.00294
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459
|
0.00294
|
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)
|
rs73038337
|
0.00293
|
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)
|
rs72647870
|
0.00293
|
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val)
|
rs188517529
|
0.00293
|
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg)
|
rs61736946
|
0.00293
|
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)
|
rs137902779
|
0.00293
|
NM_001277115.2(DNAH11):c.8798-5G>A
|
rs189821372
|
0.00292
|
NM_002473.6(MYH9):c.5181G>A (p.Leu1727=)
|
rs115170675
|
0.00292
|
NM_003672.4(CDC14A):c.1604A>G (p.Gln535Arg)
|
rs113885721
|
0.00292
|
NM_007078.3(LDB3):c.163G>A (p.Val55Ile)
|
rs3740343
|
0.00292
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00292
|
NM_024422.6(DSC2):c.1264-5C>T
|
rs183614856
|
0.00292
|
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=)
|
rs113747896
|
0.00291
|
NM_001292063.2(OTOG):c.7585+12G>A
|
rs538124093
|
0.00291
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_001031679.3(MSRB3):c.180C>T (p.Thr60=)
|
rs147698935
|
0.00290
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)
|
rs72648256
|
0.00290
|
NM_001292063.2(OTOG):c.1213+14A>C
|
rs143302987
|
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_022124.6(CDH23):c.2970C>T (p.Asp990=)
|
rs56216952
|
0.00289
|
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser)
|
rs140425210
|
0.00288
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_001943.5(DSG2):c.2211C>T (p.Gly737=)
|
rs74578148
|
0.00288
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
NM_007078.3(LDB3):c.2016C>T (p.Cys672=)
|
rs45578640
|
0.00288
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)
|
rs75031300
|
0.00287
|
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn)
|
rs141010212
|
0.00287
|
NM_001614.5(ACTG1):c.714G>A (p.Lys238=)
|
rs11549173
|
0.00287
|
NM_001614.5(ACTG1):c.780G>A (p.Ala260=)
|
rs140846345
|
0.00287
|
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)
|
rs34352773
|
0.00287
|
NM_000503.6(EYA1):c.840C>A (p.Ile280=)
|
rs55972891
|
0.00286
|
NM_001458.5(FLNC):c.4928-7T>C
|
rs201957008
|
0.00286
|
NM_003803.4(MYOM1):c.2384+4A>T
|
rs73373171
|
0.00286
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
|
rs146923532
|
0.00285
|
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met)
|
rs79229040
|
0.00285
|
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)
|
rs41281318
|
0.00285
|
NM_000335.5(SCN5A):c.2436+12G>A
|
rs41312419
|
0.00284
|
NM_001032283.3(TMPO):c.565+1240G>A
|
rs139700737
|
0.00284
|
NM_001943.5(DSG2):c.2586T>C (p.Ser862=)
|
rs78310842
|
0.00284
|
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile)
|
rs148915045
|
0.00284
|
NM_000501.4(ELN):c.1566T>A (p.Gly522=)
|
rs61734584
|
0.00283
|
NM_001035.3(RYR2):c.1218G>A (p.Ser406=)
|
rs147389346
|
0.00283
|
NM_001199799.2(ILDR1):c.1326C>A (p.Arg442=)
|
rs148350512
|
0.00282
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=)
|
rs11539506
|
0.00282
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_001330691.3(CEP78):c.1566C>T (p.Gly522=)
|
rs199743218
|
0.00281
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=)
|
rs192266658
|
0.00281
|
NM_006393.3(NEBL):c.1450-9T>G
|
rs45628140
|
0.00280
|
NM_015340.4(LARS2):c.2307C>T (p.Ser769=)
|
rs143838895
|
0.00280
|
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)
|
rs114079815
|
0.00280
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
NM_001384474.1(LOXHD1):c.6783G>A (p.Gly2261=)
|
rs115835484
|
0.00279
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
0.00279
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=)
|
rs148772706
|
0.00278
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)
|
rs146858930
|
0.00277
|
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)
|
rs143567667
|
0.00277
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00276
|
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)
|
rs35429535
|
0.00276
|
NM_003803.4(MYOM1):c.2062A>T (p.Thr688Ser)
|
rs188677538
|
0.00276
|
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=)
|
rs149408382
|
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_000257.4(MYH7):c.4452C>T (p.Leu1484=)
|
rs61737803
|
0.00275
|
NM_001039876.3(SYNE4):c.*5T>C
|
rs73928380
|
0.00275
|
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)
|
rs55980825
|
0.00275
|
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg)
|
rs150199226
|
0.00275
|
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr)
|
rs147883884
|
0.00275
|
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln)
|
rs150979437
|
0.00274
|
NM_000257.4(MYH7):c.4353+10G>A
|
rs202205780
|
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_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=)
|
rs71530911
|
0.00274
|
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=)
|
rs17850194
|
0.00273
|
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)
|
rs72648980
|
0.00273
|
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)
|
rs75450131
|
0.00273
|
NM_012208.4(HARS2):c.7C>G (p.Leu3Val)
|
rs186043734
|
0.00273
|
NM_198999.3(SLC26A5):c.-13A>C
|
rs142432368
|
0.00273
|
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)
|
rs36119840
|
0.00272
|
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp)
|
rs147288996
|
0.00272
|
NM_016938.5(EFEMP2):c.368-11G>A
|
rs181514768
|
0.00272
|
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)
|
rs148594393
|
0.00272
|
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)
|
rs111866410
|
0.00271
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
NM_005422.4(TECTA):c.972G>C (p.Val324=)
|
rs147790742
|
0.00271
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro)
|
rs141952919
|
0.00271
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_003036.4(SKI):c.1527C>T (p.Ser509=)
|
rs111935632
|
0.00270
|
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)
|
rs77758574
|
0.00270
|
NM_032119.4(ADGRV1):c.17856+11G>A
|
rs187039736
|
0.00270
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_006005.3(WFS1):c.1674C>T (p.Arg558=)
|
rs61735402
|
0.00269
|
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu)
|
rs114435632
|
0.00269
|
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)
|
rs143708308
|
0.00268
|
NM_194248.3(OTOF):c.2215-80T>C
|
rs143141993
|
0.00268
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00267
|
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)
|
rs3729821
|
0.00267
|
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=)
|
rs45489099
|
0.00267
|
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)
|
rs72653095
|
0.00267
|
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)
|
rs146608896
|
0.00267
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)
|
rs61735479
|
0.00267
|
NM_014000.3(VCL):c.3258+10A>T
|
rs71579379
|
0.00267
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=)
|
rs116774472
|
0.00265
|
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)
|
rs140350441
|
0.00265
|
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)
|
rs72647845
|
0.00265
|
NM_022124.6(CDH23):c.5419G>A (p.Val1807Met)
|
rs143993990
|
0.00265
|
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=)
|
rs11568546
|
0.00265
|
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)
|
rs34309943
|
0.00264
|
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=)
|
rs34761049
|
0.00264
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)
|
rs72646823
|
0.00264
|
NM_001614.5(ACTG1):c.471C>T (p.Asp157=)
|
rs11549222
|
0.00264
|
NM_005379.4(MYO1A):c.2724+7G>A
|
rs55985817
|
0.00264
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=)
|
rs188485743
|
0.00264
|
NM_016239.4(MYO15A):c.4779+9G>A
|
rs183256997
|
0.00264
|
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser)
|
rs149075285
|
0.00263
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=)
|
rs148743086
|
0.00262
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)
|
rs181717727
|
0.00261
|
NM_020297.4(ABCC9):c.2093-7T>C
|
rs185235724
|
0.00261
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln)
|
rs143848095
|
0.00260
|
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys)
|
rs34965084
|
0.00260
|
NM_002230.4(JUP):c.2025T>C (p.His675=)
|
rs140670556
|
0.00259
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)
|
rs144426409
|
0.00259
|
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)
|
rs143157673
|
0.00258
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00258
|
NM_002230.4(JUP):c.1159-13C>A
|
rs201627219
|
0.00258
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)
|
rs41281310
|
0.00258
|
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)
|
rs72648913
|
0.00258
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_001292063.2(OTOG):c.1104-4A>C
|
rs149163390
|
0.00257
|
NM_014000.3(VCL):c.2025G>A (p.Val675=)
|
rs140766884
|
0.00256
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln)
|
rs187270666
|
0.00255
|
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)
|
rs139506970
|
0.00255
|
NM_198253.3(TERT):c.1812A>G (p.Ala604=)
|
rs33959226
|
0.00255
|
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
|
rs138498780
|
0.00254
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
NM_005422.4(TECTA):c.3304G>A (p.Val1102Ile)
|
rs34658230
|
0.00253
|
NM_000335.5(SCN5A):c.1890+14G>A
|
rs145427253
|
0.00252
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001031679.3(MSRB3):c.486G>A (p.Ala162=)
|
rs35393316
|
0.00252
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
0.00252
|
NM_005548.3(KARS1):c.1674C>T (p.Leu558=)
|
rs143267922
|
0.00252
|
NM_006393.3(NEBL):c.154-11C>A
|
rs41277376
|
0.00252
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)
|
rs139223781
|
0.00251
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)
|
rs188370772
|
0.00250
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
NM_001145809.2(MYH14):c.1034C>G (p.Ser345Cys)
|
rs35315400
|
0.00249
|
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)
|
rs41264699
|
0.00249
|
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys)
|
rs147900972
|
0.00249
|
NM_020297.4(ABCC9):c.407-14C>A
|
rs201279882
|
0.00248
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369
|
0.00248
|
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
|
rs11570112
|
0.00247
|
NM_000257.4(MYH7):c.3853+7C>T
|
rs45467397
|
0.00247
|
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg)
|
rs139459217
|
0.00247
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00247
|
NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys)
|
rs78427072
|
0.00246
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00246
|
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln)
|
rs150264392
|
0.00246
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_004004.6(GJB2):c.-45C>A
|
rs397516868
|
0.00245
|
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp)
|
rs61759484
|
0.00245
|
NM_005159.5(ACTC1):c.454+9G>A
|
rs148695567
|
0.00245
|
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)
|
rs143584663
|
0.00245
|
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala)
|
rs61754947
|
0.00245
|
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)
|
rs146994147
|
0.00245
|
NM_001134363.3(RBM20):c.150A>T (p.Pro50=)
|
rs376936285
|
0.00244
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
|
rs138480801
|
0.00244
|
NM_001232.4(CASQ2):c.198G>A (p.Thr66=)
|
rs74114618
|
0.00243
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=)
|
rs45437099
|
0.00242
|
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys)
|
rs182389910
|
0.00242
|
NM_001292063.2(OTOG):c.4022G>A (p.Arg1341Gln)
|
rs145689709
|
0.00242
|
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn)
|
rs183470913
|
0.00242
|
NM_004447.6(EPS8):c.2230G>A (p.Val744Ile)
|
rs77967764
|
0.00242
|
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)
|
rs148932387
|
0.00242
|
NM_000337.6(SGCD):c.*2A>C
|
rs200757725
|
0.00241
|
NM_004447.6(EPS8):c.2099T>C (p.Ile700Thr)
|
rs111934716
|
0.00241
|
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=)
|
rs148723625
|
0.00241
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00240
|
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)
|
rs199821105
|
0.00240
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
NM_014000.3(VCL):c.1907A>G (p.His636Arg)
|
rs71579374
|
0.00240
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)
|
rs111033479
|
0.00240
|
NM_001005242.3(PKP2):c.1171-11T>C
|
rs183414126
|
0.00239
|
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr)
|
rs61756328
|
0.00239
|
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser)
|
rs71578980
|
0.00239
|
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)
|
rs190548814
|
0.00239
|
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)
|
rs34066624
|
0.00238
|
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)
|
rs17886566
|
0.00238
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu)
|
rs200350579
|
0.00238
|
NM_001292063.2(OTOG):c.1340A>G (p.Asn447Ser)
|
rs115772736
|
0.00238
|
NM_002471.4(MYH6):c.1449C>T (p.Asn483=)
|
rs145447555
|
0.00238
|
NM_004999.4(MYO6):c.1224-4A>G
|
rs144031818
|
0.00238
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)
|
rs35277762
|
0.00237
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
NM_006383.4(CIB2):c.462G>A (p.Glu154=)
|
rs117153558
|
0.00236
|
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=)
|
rs368377560
|
0.00236
|
NM_032119.4(ADGRV1):c.22+9T>C
|
rs368604803
|
0.00236
|
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)
|
rs111033292
|
0.00235
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00235
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=)
|
rs79955190
|
0.00235
|
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val)
|
rs117462138
|
0.00235
|
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=)
|
rs146730044
|
0.00234
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
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_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
NM_001377458.1(CLCC1):c.*2854T>C
|
rs138132875
|
0.00233
|
NM_005633.4(SOS1):c.570C>T (p.Asp190=)
|
rs55980502
|
0.00233
|
NM_024009.3(GJB3):c.313C>A (p.His105Asn)
|
rs150245955
|
0.00233
|
NM_001292063.2(OTOG):c.1397T>G (p.Phe466Cys)
|
rs147355325
|
0.00232
|
NM_001384140.1(PCDH15):c.4672-1640A>G
|
rs145178582
|
0.00232
|
NM_002471.4(MYH6):c.1275C>T (p.Ile425=)
|
rs61742470
|
0.00232
|
NM_006073.4(TRDN):c.430C>T (p.His144Tyr)
|
rs79182520
|
0.00232
|
NM_145309.6(LRRC51):c.255C>T (p.Asp85=)
|
rs145851613
|
0.00232
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu)
|
rs56200894
|
0.00231
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=)
|
rs34698071
|
0.00230
|
NM_080680.3(COL11A2):c.*4C>T
|
rs186720023
|
0.00230
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_001005242.3(PKP2):c.939C>T (p.Ser313=)
|
rs61729381
|
0.00229
|
NM_001256317.3(TMPRSS3):c.957G>C (p.Met319Ile)
|
rs115223836
|
0.00229
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala)
|
rs72657320
|
0.00229
|
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00229
|
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=)
|
rs61736186
|
0.00229
|
NM_000092.5(COL4A4):c.4217-15T>C
|
rs200926310
|
0.00228
|
NM_001035.3(RYR2):c.6555+6G>A
|
rs372661934
|
0.00228
|
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr)
|
rs144482486
|
0.00228
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00228
|
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)
|
rs139640247
|
0.00228
|
NM_014000.3(VCL):c.1671C>T (p.Asp557=)
|
rs137877092
|
0.00228
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037
|
0.00228
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_001379180.1(ESRRB):c.1120+8C>T
|
rs373429794
|
0.00226
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_001039141.3(TRIOBP):c.4333A>G (p.Arg1445Gly)
|
rs199640717
|
0.00225
|
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)
|
rs201554140
|
0.00225
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
NM_024334.3(TMEM43):c.*8C>T
|
rs192707412
|
0.00225
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983
|
0.00224
|
NM_198253.3(TERT):c.969G>A (p.Pro323=)
|
rs148549782
|
0.00224
|
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp)
|
rs3729799
|
0.00223
|
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)
|
rs72648925
|
0.00223
|
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)
|
rs55696153
|
0.00223
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
NM_006005.3(WFS1):c.2124C>T (p.Arg708=)
|
rs61735401
|
0.00223
|
NM_016938.5(EFEMP2):c.368-4G>A
|
rs111550973
|
0.00223
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)
|
rs41261344
|
0.00222
|
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)
|
rs138576504
|
0.00222
|
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=)
|
rs189541861
|
0.00222
|
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=)
|
rs75860159
|
0.00222
|
NM_005343.4(HRAS):c.477G>A (p.Leu159=)
|
rs140060409
|
0.00222
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)
|
rs144383241
|
0.00222
|
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)
|
rs199873924
|
0.00221
|
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala)
|
rs142849754
|
0.00221
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met)
|
rs140126678
|
0.00220
|
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=)
|
rs147369439
|
0.00220
|
NM_198253.3(TERT):c.1574-7G>A
|
rs34846301
|
0.00220
|
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)
|
rs138506461
|
0.00219
|
NM_001384140.1(PCDH15):c.1181A>G (p.Tyr394Cys)
|
rs148533341
|
0.00219
|
NM_080680.3(COL11A2):c.3583-5T>C
|
rs183536190
|
0.00219
|
NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=)
|
rs147447646
|
0.00218
|
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)
|
rs114711705
|
0.00218
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val)
|
rs72787346
|
0.00218
|
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=)
|
rs376365984
|
0.00218
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
NM_001943.5(DSG2):c.2484T>C (p.Asp828=)
|
rs201051252
|
0.00217
|
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln)
|
rs34935550
|
0.00217
|
NM_005633.4(SOS1):c.1230G>A (p.Gln410=)
|
rs141390073
|
0.00217
|
NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys)
|
rs112892337
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu)
|
rs201060500
|
0.00216
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
NM_001386795.1(DTNA):c.1176-8T>C
|
rs41274310
|
0.00216
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=)
|
rs34785693
|
0.00215
|
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=)
|
rs79232842
|
0.00215
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_001105206.3(LAMA4):c.5207-14G>C
|
rs112265545
|
0.00214
|
NM_016239.4(MYO15A):c.5133+15A>G
|
rs150128469
|
0.00214
|
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=)
|
rs72657400
|
0.00213
|
NM_006393.3(NEBL):c.109T>C (p.Leu37=)
|
rs140734883
|
0.00213
|
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)
|
rs41268014
|
0.00213
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
NM_001267550.2(TTN):c.1068G>A (p.Glu356=)
|
rs144716589
|
0.00212
|
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)
|
rs140042576
|
0.00212
|
NM_020433.5(JPH2):c.1794C>A (p.Ser598=)
|
rs369883442
|
0.00212
|
NM_053025.4(MYLK):c.755-12C>T
|
rs138877679
|
0.00212
|
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=)
|
rs139283268
|
0.00212
|
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)
|
rs565866662
|
0.00212
|
NM_001035.3(RYR2):c.6555+8C>T
|
rs1759122
|
0.00211
|
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00211
|
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His)
|
rs142799217
|
0.00211
|
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln)
|
rs150883816
|
0.00211
|
NM_016239.4(MYO15A):c.7655-7C>G
|
rs191171943
|
0.00211
|
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr)
|
rs72647897
|
0.00211
|
NM_001105206.3(LAMA4):c.195+131C>G
|
rs138579810
|
0.00210
|
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=)
|
rs113152264
|
0.00210
|
NM_001292063.2(OTOG):c.5549C>G (p.Pro1850Arg)
|
rs376684690
|
0.00210
|
NM_001292063.2(OTOG):c.7693+14A>T
|
rs545542156
|
0.00210
|
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=)
|
rs138823379
|
0.00210
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln)
|
rs151001222
|
0.00210
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
NM_000441.1(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met)
|
rs143570915
|
0.00209
|
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=)
|
rs150303433
|
0.00209
|
NM_001005242.3(PKP2):c.972G>A (p.Ala324=)
|
rs142636176
|
0.00208
|
NM_001267550.2(TTN):c.289G>A (p.Val97Met)
|
rs185921345
|
0.00208
|
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)
|
rs182491843
|
0.00208
|
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys)
|
rs191662816
|
0.00208
|
NM_001330.5(CTF1):c.591C>G (p.Pro197=)
|
rs397516652
|
0.00208
|
NM_001384140.1(PCDH15):c.4671+1109C>T
|
rs145418788
|
0.00208
|
NM_002471.4(MYH6):c.3979-7dup
|
rs545343612
|
0.00208
|
NM_002471.4(MYH6):c.4401T>G (p.Ser1467=)
|
rs150081280
|
0.00208
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=)
|
rs190486507
|
0.00208
|
NM_000260.4(MYO7A):c.4323+12G>A
|
rs115708951
|
0.00207
|
NM_000335.5(SCN5A):c.354C>T (p.His118=)
|
rs45533640
|
0.00207
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp)
|
rs200735096
|
0.00207
|
NM_005422.4(TECTA):c.1812C>T (p.Ser604=)
|
rs138914618
|
0.00207
|
NM_198253.3(TERT):c.3105C>T (p.Val1035=)
|
rs181612536
|
0.00207
|
NM_000116.5(TAFAZZIN):c.646+14C>T
|
rs191527230
|
0.00206
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800
|
0.00206
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
NM_001267550.2(TTN):c.87707-4G>T
|
rs201770959
|
0.00206
|
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)
|
rs147232392
|
0.00206
|
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=)
|
rs368122233
|
0.00206
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_001105206.3(LAMA4):c.924T>C (p.His308=)
|
rs143580603
|
0.00205
|
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)
|
rs11900987
|
0.00205
|
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=)
|
rs144125797
|
0.00205
|
NM_002700.3(POU4F3):c.378G>A (p.Thr126=)
|
rs113137300
|
0.00205
|
NM_006005.3(WFS1):c.854G>A (p.Arg285His)
|
rs61735404
|
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_032119.4(ADGRV1):c.11568T>C (p.Val3856=)
|
rs143004930
|
0.00205
|
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=)
|
rs546907305
|
0.00204
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys)
|
rs77573084
|
0.00204
|
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)
|
rs115346085
|
0.00204
|
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=)
|
rs143186319
|
0.00204
|
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00204
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)
|
rs140528529
|
0.00203
|
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)
|
rs139317762
|
0.00203
|
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)
|
rs72648245
|
0.00203
|
NM_001354604.2(MITF):c.880+9C>G
|
rs181810413
|
0.00203
|
NM_015340.4(LARS2):c.1692C>T (p.Ala564=)
|
rs149911756
|
0.00203
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737
|
0.00203
|
NM_194248.3(OTOF):c.37C>T (p.Leu13=)
|
rs76180450
|
0.00203
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
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_001267550.2(TTN):c.5231C>T (p.Pro1744Leu)
|
rs75686037
|
0.00202
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His)
|
rs200153555
|
0.00202
|
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)
|
rs121908108
|
0.00202
|
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser)
|
rs145520397
|
0.00201
|
NM_001354604.2(MITF):c.366C>T (p.His122=)
|
rs140663277
|
0.00201
|
NM_033337.3(CAV3):c.-1G>A
|
rs74377241
|
0.00201
|
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
|
rs121909352
|
0.00200
|
NM_001267550.2(TTN):c.69412+10G>C
|
rs72646883
|
0.00200
|
NM_004700.4(KCNQ4):c.1292+12G>A
|
rs200426006
|
0.00200
|
NM_016929.5(CLIC5):c.341C>A (p.Ala114Glu)
|
rs143360018
|
0.00200
|
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)
|
rs191736683
|
0.00200
|
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met)
|
rs144539321
|
0.00200
|
NM_002471.4(MYH6):c.4416A>G (p.Ser1472=)
|
rs140800076
|
0.00199
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
NM_144672.4(OTOA):c.1522G>A (p.Val508Met)
|
rs150415498
|
0.00199
|
NM_181426.2(CCDC39):c.1363-3del
|
rs551191744
|
0.00199
|
NM_000258.3(MYL3):c.130-14G>T
|
rs192329378
|
0.00198
|
NM_000363.5(TNNI3):c.273G>A (p.Ala91=)
|
rs75491697
|
0.00198
|
NM_020975.6(RET):c.337+12G>A
|
rs200468424
|
0.00198
|
NM_032578.4(MYPN):c.1893G>A (p.Arg631=)
|
rs145440469
|
0.00198
|
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp)
|
rs141407971
|
0.00198
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)
|
rs200378865
|
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_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
NM_006005.3(WFS1):c.227G>T (p.Gly76Val)
|
rs200135768
|
0.00197
|
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met)
|
rs150403702
|
0.00197
|
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)
|
rs45522138
|
0.00196
|
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser)
|
rs150864240
|
0.00196
|
NM_203447.4(DOCK8):c.4024-4C>T
|
rs111306749
|
0.00196
|
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_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)
|
rs202085918
|
0.00195
|
NM_001614.5(ACTG1):c.684C>T (p.Ala228=)
|
rs143125497
|
0.00195
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00195
|
NM_004415.4(DSP):c.1488G>A (p.Thr496=)
|
rs35820473
|
0.00195
|
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val)
|
rs200528472
|
0.00195
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
NM_053025.4(MYLK):c.4620-6C>T
|
rs113607507
|
0.00195
|
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)
|
rs144930507
|
0.00194
|
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)
|
rs113194608
|
0.00194
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)
|
rs368487246
|
0.00193
|
NM_001330691.3(CEP78):c.1846-1G>C
|
rs146563928
|
0.00193
|
NM_001943.5(DSG2):c.6G>A (p.Ala2=)
|
rs368809971
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_002473.6(MYH9):c.3485+8C>T
|
rs149559551
|
0.00193
|
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=)
|
rs76458291
|
0.00193
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_000899.5(KITLG):c.177C>T (p.Pro59=)
|
rs61924705
|
0.00192
|
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)
|
rs141202530
|
0.00192
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_001031679.3(MSRB3):c.292+11A>G
|
rs200096451
|
0.00191
|
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu)
|
rs201234482
|
0.00191
|
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00191
|
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)
|
rs141235641
|
0.00191
|
NM_000363.5(TNNI3):c.550-10C>T
|
rs201240150
|
0.00190
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_001042492.3(NF1):c.2553C>T (p.Cys851=)
|
rs2230852
|
0.00190
|
NM_016239.4(MYO15A):c.8811C>T (p.His2937=)
|
rs200583193
|
0.00190
|
NM_133379.5(TTN):c.14754T>G (p.Pro4918=)
|
rs72648908
|
0.00190
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)
|
rs62001015
|
0.00189
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)
|
rs149668487
|
0.00189
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
0.00189
|
NM_002471.4(MYH6):c.4320T>A (p.Ala1440=)
|
rs145566711
|
0.00189
|
NM_007078.3(LDB3):c.1460G>A (p.Arg487His)
|
rs146265188
|
0.00189
|
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)
|
rs113498662
|
0.00189
|
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn)
|
rs144586270
|
0.00189
|
NM_198488.5(FAM83H):c.601C>T (p.Gln201Ter)
|
rs189033490
|
0.00189
|
NM_001032283.3(TMPO):c.565+1728G>C
|
rs145703021
|
0.00188
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)
|
rs116572520
|
0.00188
|
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)
|
rs142317580
|
0.00188
|
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser)
|
rs72655967
|
0.00188
|
NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His)
|
rs117315845
|
0.00188
|
NM_003803.4(MYOM1):c.2727G>A (p.Pro909=)
|
rs72860212
|
0.00188
|
NM_005188.4(CBL):c.1359A>C (p.Pro453=)
|
rs34732429
|
0.00188
|
NM_006393.3(NEBL):c.1869+8C>G
|
rs188529864
|
0.00188
|
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)
|
rs11570052
|
0.00187
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
NM_001378609.3(OTOGL):c.1395-12A>G
|
rs138572593
|
0.00187
|
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)
|
rs201214794
|
0.00187
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_000540.3(RYR1):c.297G>A (p.Thr99=)
|
rs144241486
|
0.00186
|
NM_001018116.2(CAVIN4):c.57G>A (p.Ser19=)
|
rs141589872
|
0.00186
|
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu)
|
rs35107075
|
0.00186
|
NM_080680.3(COL11A2):c.4392+12C>T
|
rs117267045
|
0.00186
|
NM_194248.3(OTOF):c.4800-11C>T
|
rs41286009
|
0.00186
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)
|
rs3821945
|
0.00185
|
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)
|
rs76757102
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_080680.3(COL11A2):c.2115+7T>C
|
rs186051366
|
0.00185
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)
|
rs149131555
|
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_014391.3(ANKRD1):c.208-15G>A
|
rs116511484
|
0.00184
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008
|
0.00184
|
NM_181507.2(HPS5):c.1635-4C>G
|
rs79009787
|
0.00184
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=)
|
rs146747080
|
0.00183
|
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=)
|
rs35789242
|
0.00183
|
NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr)
|
rs146935076
|
0.00183
|
NM_017950.4(CCDC40):c.180G>A (p.Ala60=)
|
rs185006459
|
0.00183
|
NM_030662.4(MAP2K2):c.580+6G>A
|
rs201435249
|
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_080680.3(COL11A2):c.4521G>A (p.Gln1507=)
|
rs114580597
|
0.00182
|
NM_173477.5(USH1G):c.501C>G (p.Arg167=)
|
rs141688757
|
0.00182
|
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)
|
rs200313391
|
0.00181
|
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=)
|
rs569520095
|
0.00181
|
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn)
|
rs184740744
|
0.00181
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_016929.5(CLIC5):c.508G>C (p.Gly170Arg)
|
rs114149334
|
0.00181
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)
|
rs61759926
|
0.00180
|
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val)
|
rs397516635
|
0.00180
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_004817.4(TJP2):c.2691C>T (p.Pro897=)
|
rs149969431
|
0.00180
|
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=)
|
rs111888319
|
0.00180
|
NM_133261.3(GIPC3):c.132G>C (p.Ala44=)
|
rs80060313
|
0.00180
|
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val)
|
rs150107590
|
0.00180
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)
|
rs144682235
|
0.00179
|
NM_022124.6(CDH23):c.4210-14A>C
|
rs149441656
|
0.00179
|
NM_033118.4(MYLK2):c.1295+4C>A
|
rs113936360
|
0.00179
|
NM_000257.4(MYH7):c.480C>T (p.Asn160=)
|
rs45500700
|
0.00178
|
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)
|
rs45488304
|
0.00178
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
NM_001039213.4(CEACAM16):c.95G>T (p.Ser32Ile)
|
rs186687142
|
0.00178
|
NM_001039213.4(CEACAM16):c.96C>T (p.Ser32=)
|
rs191552868
|
0.00178
|
NM_001105206.3(LAMA4):c.2493+15G>T
|
rs77901141
|
0.00178
|
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)
|
rs143142227
|
0.00178
|
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=)
|
rs114736976
|
0.00178
|
NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro)
|
rs76657474
|
0.00178
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu)
|
rs79464236
|
0.00178
|
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=)
|
rs373069459
|
0.00178
|
NM_080680.3(COL11A2):c.1774-9C>T
|
rs148243956
|
0.00178
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
|
rs28933981
|
0.00177
|
NM_001267550.2(TTN):c.29963-13A>G
|
rs72650008
|
0.00177
|
NM_001378609.3(OTOGL):c.6283A>G (p.Ile2095Val)
|
rs149249642
|
0.00177
|
NM_015404.4(WHRN):c.1305C>T (p.Asn435=)
|
rs150407952
|
0.00177
|
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)
|
rs147458358
|
0.00177
|
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892
|
0.00177
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00177
|
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
|
rs200224422
|
0.00176
|
NM_000503.6(EYA1):c.1200-11C>A
|
rs181457812
|
0.00176
|
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn)
|
rs200592310
|
0.00176
|
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)
|
rs144748846
|
0.00176
|
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly)
|
rs188319622
|
0.00176
|
NM_004086.3(COCH):c.841G>A (p.Asp281Asn)
|
rs28362775
|
0.00176
|
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)
|
rs140949805
|
0.00176
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
NM_002471.4(MYH6):c.2293-12C>G
|
rs115453571
|
0.00175
|
NM_004281.4(BAG3):c.25A>G (p.Met9Val)
|
rs137965903
|
0.00175
|
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn)
|
rs60970824
|
0.00175
|
NM_005450.6(NOG):c.275G>A (p.Gly92Glu)
|
rs199566527
|
0.00175
|
NM_012144.4(DNAI1):c.81+5del
|
rs200411544
|
0.00175
|
NM_181458.4(PAX3):c.586+57A>G
|
rs202175449
|
0.00175
|
NM_001105206.3(LAMA4):c.196-9C>T
|
rs144850734
|
0.00174
|
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile)
|
rs3734292
|
0.00174
|
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=)
|
rs111750275
|
0.00173
|
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=)
|
rs113994614
|
0.00173
|
NM_001943.5(DSG2):c.1652-12C>T
|
rs140850369
|
0.00173
|
NM_002906.4(RDX):c.1487C>T (p.Ala496Val)
|
rs74983220
|
0.00173
|
NM_004985.5(KRAS):c.-48G>A
|
rs532564755
|
0.00173
|
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp)
|
rs148671332
|
0.00172
|
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)
|
rs189966800
|
0.00172
|
NM_002471.4(MYH6):c.2928+5G>A
|
rs28730772
|
0.00172
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_001039141.3(TRIOBP):c.5886A>G (p.Pro1962=)
|
rs372220018
|
0.00171
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)
|
rs72773422
|
0.00170
|
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)
|
rs45592239
|
0.00170
|
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)
|
rs190565627
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00170
|
NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu)
|
rs114146378
|
0.00170
|
NM_181458.4(PAX3):c.873C>T (p.Pro291=)
|
rs141545923
|
0.00170
|
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln)
|
rs144800506
|
0.00170
|
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
|
rs116541276
|
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_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)
|
rs142372794
|
0.00168
|
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln)
|
rs143495342
|
0.00168
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_007078.3(LDB3):c.954C>T (p.Pro318=)
|
rs45603139
|
0.00168
|
NM_015340.4(LARS2):c.235-12G>A
|
rs75240042
|
0.00168
|
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His)
|
rs200623501
|
0.00168
|
NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser)
|
rs114204766
|
0.00168
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln)
|
rs145960317
|
0.00168
|
NM_022114.4(PRDM16):c.1188T>C (p.Cys396=)
|
rs201309284
|
0.00167
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)
|
rs145467740
|
0.00166
|
NM_005188.4(CBL):c.2484G>A (p.Pro828=)
|
rs149533467
|
0.00166
|
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)
|
rs373913240
|
0.00165
|
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr)
|
rs142094977
|
0.00165
|
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu)
|
rs142620954
|
0.00165
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_001614.5(ACTG1):c.803-6C>T
|
rs199600452
|
0.00164
|
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)
|
rs8192671
|
0.00164
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_194248.3(OTOF):c.4980C>T (p.Asp1660=)
|
rs149549554
|
0.00164
|
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)
|
rs11570351
|
0.00164
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)
|
rs370597107
|
0.00163
|
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)
|
rs115813214
|
0.00163
|
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=)
|
rs113792127
|
0.00163
|
NM_080680.3(COL11A2):c.390G>C (p.Arg130=)
|
rs149638770
|
0.00163
|
NM_170682.4(P2RX2):c.211G>A (p.Glu71Lys)
|
rs143664462
|
0.00163
|
NM_178335.3(CCDC50):c.1203A>G (p.Lys401=)
|
rs146511344
|
0.00163
|
NM_012208.4(HARS2):c.324T>C (p.Tyr108=)
|
rs143687204
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=)
|
rs184389316
|
0.00160
|
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser)
|
rs200926225
|
0.00160
|
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)
|
rs143730090
|
0.00160
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
0.00160
|
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr)
|
rs35218685
|
0.00160
|
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206
|
0.00160
|
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)
|
rs201904226
|
0.00160
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
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_001267550.2(TTN):c.14004C>T (p.Thr4668=)
|
rs201200682
|
0.00159
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)
|
rs150395260
|
0.00159
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)
|
rs112120466
|
0.00159
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln)
|
rs140118363
|
0.00158
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_001370.2(DNAH6):c.10233C>G (p.Pro3411=)
|
rs72832550
|
0.00158
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
NM_003672.4(CDC14A):c.822C>T (p.Ile274=)
|
rs74667145
|
0.00158
|
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg)
|
rs183969516
|
0.00158
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
NM_001039141.3(TRIOBP):c.3954C>T (p.Ser1318=)
|
rs200990219
|
0.00157
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_004817.4(TJP2):c.3342T>C (p.His1114=)
|
rs61753629
|
0.00157
|
NM_015340.4(LARS2):c.255C>T (p.Tyr85=)
|
rs114881088
|
0.00157
|
NM_033337.3(CAV3):c.336C>T (p.Ile112=)
|
rs139985460
|
0.00157
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_001035.3(RYR2):c.14756+12C>T
|
rs2275693
|
0.00156
|
NM_001267550.2(TTN):c.30598+15C>T
|
rs79685525
|
0.00156
|
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg)
|
rs140588099
|
0.00156
|
NM_004415.4(DSP):c.1920C>T (p.Ile640=)
|
rs74806300
|
0.00156
|
NM_005633.4(SOS1):c.2988G>A (p.Pro996=)
|
rs35462677
|
0.00156
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
NM_053025.4(MYLK):c.4289-4C>G
|
rs376670657
|
0.00156
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=)
|
rs148262058
|
0.00155
|
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala)
|
rs200017524
|
0.00154
|
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=)
|
rs142657158
|
0.00154
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
NM_032578.4(MYPN):c.1104C>T (p.Gly368=)
|
rs144764983
|
0.00154
|
NM_144991.3(TSPEAR):c.900C>T (p.Asn300=)
|
rs139106120
|
0.00154
|
NM_001035.3(RYR2):c.4596+12G>A
|
rs148557427
|
0.00153
|
NM_001145809.2(MYH14):c.5127+10G>A
|
rs370928889
|
0.00153
|
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=)
|
rs145235893
|
0.00153
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)
|
rs189202799
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_003803.4(MYOM1):c.1803C>T (p.Pro601=)
|
rs371861150
|
0.00153
|
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys)
|
rs199809248
|
0.00153
|
NM_006941.4(SOX10):c.822C>T (p.Gly274=)
|
rs147334218
|
0.00153
|
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=)
|
rs139493914
|
0.00153
|
NM_022114.4(PRDM16):c.201G>A (p.Pro67=)
|
rs199614349
|
0.00153
|
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu)
|
rs150877886
|
0.00153
|
NM_001105206.3(LAMA4):c.4822-3C>T
|
rs191447048
|
0.00151
|
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)
|
rs199805060
|
0.00151
|
NM_003280.3(TNNC1):c.203-5C>T
|
rs142519988
|
0.00151
|
NM_006005.3(WFS1):c.1491C>T (p.Val497=)
|
rs148310584
|
0.00151
|
NM_021167.5(GATAD1):c.762G>A (p.Gly254=)
|
rs139637606
|
0.00151
|
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)
|
rs61999270
|
0.00151
|
NM_001035.3(RYR2):c.2301G>T (p.Ser767=)
|
rs117588730
|
0.00150
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)
|
rs138167675
|
0.00150
|
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)
|
rs77562287
|
0.00150
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys)
|
rs201060702
|
0.00149
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
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_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn)
|
rs151264959
|
0.00148
|
NM_001308093.3(GATA4):c.735C>T (p.Tyr245=)
|
rs146696080
|
0.00148
|
NM_001363118.2(SLC52A2):c.643C>T (p.Leu215=)
|
rs147954962
|
0.00148
|
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser)
|
rs144907522
|
0.00148
|
NM_144991.3(TSPEAR):c.542+14C>T
|
rs200116408
|
0.00148
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp)
|
rs144030074
|
0.00147
|
NM_002458.3(MUC5B):c.8709G>A (p.Ala2903=)
|
rs371299435
|
0.00147
|
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)
|
rs182139018
|
0.00147
|
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp)
|
rs142990800
|
0.00147
|
NM_144991.3(TSPEAR):c.1566+5G>A
|
rs117034581
|
0.00147
|
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr)
|
rs140868933
|
0.00146
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)
|
rs145204073
|
0.00146
|
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)
|
rs72650040
|
0.00146
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_002458.3(MUC5B):c.1497C>T (p.Gly499=)
|
rs377351415
|
0.00146
|
NM_005422.4(TECTA):c.625-4G>T
|
rs142007879
|
0.00146
|
NM_006284.4(TAF10):c.*1210C>T
|
rs145172848
|
0.00146
|
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)
|
rs148701985
|
0.00146
|
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=)
|
rs186426892
|
0.00146
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_001039876.3(SYNE4):c.96C>T (p.Thr32=)
|
rs138787817
|
0.00145
|
NM_001267550.2(TTN):c.10104T>G (p.Val3368=)
|
rs142460433
|
0.00145
|
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)
|
rs72648972
|
0.00145
|
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=)
|
rs115742584
|
0.00145
|
NM_004817.4(TJP2):c.61-6A>T
|
rs200415824
|
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_020433.5(JPH2):c.637C>T (p.Arg213Trp)
|
rs767328866
|
0.00145
|
NM_020433.5(JPH2):c.642G>A (p.Ala214=)
|
rs587780956
|
0.00145
|
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=)
|
rs61741955
|
0.00145
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)
|
rs202040332
|
0.00144
|
NM_004281.4(BAG3):c.1587C>T (p.Ala529=)
|
rs149358702
|
0.00144
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_001035.3(RYR2):c.9067+12C>T
|
rs112365440
|
0.00143
|
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=)
|
rs112874177
|
0.00143
|
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys)
|
rs150838215
|
0.00143
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004086.3(COCH):c.1204A>G (p.Ile402Val)
|
rs28362778
|
0.00143
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)
|
rs139851304
|
0.00142
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
|
rs111033480
|
0.00142
|
NM_000363.5(TNNI3):c.373-15C>G
|
rs192630178
|
0.00141
|
NM_001089.3(ABCA3):c.839G>A (p.Arg280His)
|
rs143008553
|
0.00141
|
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu)
|
rs150733188
|
0.00141
|
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=)
|
rs6706088
|
0.00141
|
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)
|
rs148849567
|
0.00141
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)
|
rs144329079
|
0.00141
|
NM_004281.4(BAG3):c.549C>G (p.Ser183=)
|
rs112929734
|
0.00141
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00141
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_144573.4(NEXN):c.864+12T>A
|
rs188416492
|
0.00141
|
NM_144672.4(OTOA):c.2417A>C (p.Tyr806Ser)
|
rs464691
|
0.00141
|
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=)
|
rs114719960
|
0.00141
|
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=)
|
rs111422496
|
0.00140
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser)
|
rs534942001
|
0.00140
|
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)
|
rs181306086
|
0.00140
|
NM_020297.4(ABCC9):c.924T>C (p.Asp308=)
|
rs139127928
|
0.00140
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
NM_002473.6(MYH9):c.705+14C>T
|
rs142552338
|
0.00139
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met)
|
rs140140417
|
0.00139
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
NM_000548.5(TSC2):c.5260-15C>T
|
rs45517416
|
0.00138
|
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)
|
rs200155519
|
0.00138
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)
|
rs370616818
|
0.00138
|
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=)
|
rs144012985
|
0.00138
|
NM_021116.4(ADCY1):c.2694C>T (p.Asn898=)
|
rs61735492
|
0.00138
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_031475.3(ESPN):c.1950C>T (p.Gly650=)
|
rs116163286
|
0.00138
|
NM_000257.4(MYH7):c.2358G>A (p.Thr786=)
|
rs36211714
|
0.00137
|
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=)
|
rs375013523
|
0.00137
|
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His)
|
rs11882073
|
0.00137
|
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp)
|
rs114917863
|
0.00137
|
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)
|
rs142874389
|
0.00137
|
NM_001378609.3(OTOGL):c.3213+10C>T
|
rs201373228
|
0.00137
|
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)
|
rs79068489
|
0.00137
|
NM_005188.4(CBL):c.2190G>C (p.Thr730=)
|
rs143840974
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=)
|
rs188634763
|
0.00137
|
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)
|
rs202211640
|
0.00137
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser)
|
rs76420383
|
0.00136
|
NM_004100.5(EYA4):c.783G>A (p.Thr261=)
|
rs17854076
|
0.00136
|
NM_007078.3(LDB3):c.1422G>A (p.Ser474=)
|
rs142625982
|
0.00136
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)
|
rs138153075
|
0.00135
|
NM_006393.3(NEBL):c.2685C>T (p.Asp895=)
|
rs140245727
|
0.00135
|
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)
|
rs183447491
|
0.00135
|
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)
|
rs148121889
|
0.00134
|
NM_001145809.2(MYH14):c.4094G>A (p.Ser1365Asn)
|
rs202225655
|
0.00134
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)
|
rs146767076
|
0.00134
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
NM_001378609.3(OTOGL):c.4906G>A (p.Glu1636Lys)
|
rs143817729
|
0.00134
|
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu)
|
rs145139708
|
0.00134
|
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu)
|
rs34204285
|
0.00134
|
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)
|
rs149510892
|
0.00134
|
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser)
|
rs116314622
|
0.00134
|
NM_000258.3(MYL3):c.81T>C (p.Pro27=)
|
rs147584015
|
0.00133
|
NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly)
|
rs202059880
|
0.00133
|
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)
|
rs200431386
|
0.00133
|
NM_001267550.2(TTN):c.16621+7A>T
|
rs10200398
|
0.00133
|
NM_001267550.2(TTN):c.17183-9T>C
|
rs141687561
|
0.00133
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
NM_005422.4(TECTA):c.2418G>A (p.Leu806=)
|
rs138185038
|
0.00133
|
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=)
|
rs80069610
|
0.00133
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
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.58869A>G (p.Lys19623=)
|
rs191066933
|
0.00132
|
NM_004415.4(DSP):c.3696C>A (p.Ser1232=)
|
rs141120358
|
0.00132
|
NM_016239.4(MYO15A):c.4655+11G>A
|
rs117021471
|
0.00132
|
NM_000432.4(MYL2):c.279G>A (p.Ala93=)
|
rs28645088
|
0.00131
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
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_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_022114.4(PRDM16):c.1426C>T (p.Pro476Ser)
|
rs188908415
|
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_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)
|
rs56812642
|
0.00130
|
NM_002471.4(MYH6):c.4782G>A (p.Arg1594=)
|
rs142823394
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00129
|
NM_001267550.2(TTN):c.32555-6T>C
|
rs375742678
|
0.00129
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_133379.5(TTN):c.14214C>T (p.Thr4738=)
|
rs147513899
|
0.00129
|
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile)
|
rs150016894
|
0.00129
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00128
|
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser)
|
rs142006633
|
0.00128
|
NM_001267550.2(TTN):c.1002C>T (p.Thr334=)
|
rs148094198
|
0.00128
|
NM_001614.5(ACTG1):c.18C>T (p.Ala6=)
|
rs145211830
|
0.00128
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
NM_144573.4(NEXN):c.156C>T (p.Asp52=)
|
rs371431782
|
0.00128
|
NM_144991.3(TSPEAR):c.1566+12C>T
|
rs199557392
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
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_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr)
|
rs548278514
|
0.00127
|
NM_001378609.3(OTOGL):c.93A>G (p.Ala31=)
|
rs147902353
|
0.00127
|
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile)
|
rs139779680
|
0.00127
|
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=)
|
rs146436765
|
0.00126
|
NM_001038603.3(MARVELD2):c.615C>T (p.Ala205=)
|
rs146796266
|
0.00126
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_001199107.2(TBC1D24):c.-7C>T
|
rs199852092
|
0.00126
|
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu)
|
rs199855270
|
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_017433.5(MYO3A):c.4439-12C>T
|
rs201689300
|
0.00126
|
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=)
|
rs186639101
|
0.00126
|
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile)
|
rs138339125
|
0.00126
|
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile)
|
rs150807452
|
0.00126
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00125
|
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly)
|
rs529972175
|
0.00125
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
NM_057176.3(BSND):c.189C>T (p.Val63=)
|
rs144505461
|
0.00125
|
NM_001042492.3(NF1):c.4577+11C>G
|
rs190614908
|
0.00124
|
NM_001114753.3(ENG):c.732C>T (p.Pro244=)
|
rs112262663
|
0.00124
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
NM_001379180.1(ESRRB):c.1120+11C>T
|
rs116803435
|
0.00124
|
NM_004006.3(DMD):c.5265C>T (p.Pro1755=)
|
rs145515413
|
0.00124
|
NM_004415.4(DSP):c.522T>C (p.Cys174=)
|
rs144781697
|
0.00124
|
NM_004999.4(MYO6):c.2595C>T (p.Pro865=)
|
rs150876010
|
0.00124
|
NM_005992.1(TBX1):c.1010-3495C>T
|
rs72646973
|
0.00124
|
NM_006393.3(NEBL):c.624C>T (p.Pro208=)
|
rs111854914
|
0.00124
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
NM_022124.6(CDH23):c.5067+15G>A
|
rs367928867
|
0.00124
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00124
|
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg)
|
rs200770543
|
0.00124
|
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)
|
rs77846212
|
0.00123
|
NM_000414.4(HSD17B4):c.1210-8T>C
|
rs34254740
|
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_001039141.3(TRIOBP):c.5058C>G (p.Pro1686=)
|
rs113459040
|
0.00123
|
NM_001039141.3(TRIOBP):c.5380-14C>T
|
rs182214887
|
0.00123
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys)
|
rs72647862
|
0.00123
|
NM_001267550.2(TTN):c.34453+12C>A
|
rs74930148
|
0.00123
|
NM_001386795.1(DTNA):c.604-14G>T
|
rs397517447
|
0.00123
|
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)
|
rs76368635
|
0.00123
|
NM_002524.5(NRAS):c.225C>T (p.Gly75=)
|
rs142739534
|
0.00123
|
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=)
|
rs148968935
|
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_016239.4(MYO15A):c.6186C>A (p.Ala2062=)
|
rs141475629
|
0.00123
|
NM_022124.6(CDH23):c.2781C>T (p.Tyr927=)
|
rs375102725
|
0.00123
|
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)
|
rs200055351
|
0.00123
|
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
|
rs138313730
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=)
|
rs61900036
|
0.00122
|
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)
|
rs45466399
|
0.00122
|
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr)
|
rs189893797
|
0.00122
|
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)
|
rs371075036
|
0.00122
|
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=)
|
rs371819104
|
0.00122
|
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His)
|
rs185432248
|
0.00122
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)
|
rs141552752
|
0.00121
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)
|
rs147831309
|
0.00121
|
NM_001378609.3(OTOGL):c.3513C>T (p.Gly1171=)
|
rs145834039
|
0.00121
|
NM_001378609.3(OTOGL):c.519G>A (p.Ser173=)
|
rs181528168
|
0.00121
|
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu)
|
rs200050988
|
0.00121
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
NM_002473.6(MYH9):c.1176G>A (p.Pro392=)
|
rs143316848
|
0.00121
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_005343.4(HRAS):c.357C>T (p.Asp119=)
|
rs111352454
|
0.00121
|
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr)
|
rs140301218
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)
|
rs144269892
|
0.00121
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)
|
rs11570082
|
0.00120
|
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=)
|
rs189243324
|
0.00120
|
NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=)
|
rs34716166
|
0.00120
|
NM_001199799.2(ILDR1):c.1305C>A (p.Ser435Arg)
|
rs35597690
|
0.00120
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
NM_002471.4(MYH6):c.*8T>C
|
rs201560522
|
0.00120
|
NM_022124.6(CDH23):c.2954-15C>T
|
rs376377077
|
0.00120
|
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=)
|
rs55807353
|
0.00120
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=)
|
rs79811945
|
0.00119
|
NM_001035.3(RYR2):c.726C>T (p.Asp242=)
|
rs76380341
|
0.00119
|
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00119
|
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)
|
rs200971254
|
0.00119
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_002473.6(MYH9):c.1158C>T (p.Thr386=)
|
rs138502859
|
0.00119
|
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)
|
rs142441725
|
0.00119
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00119
|
NM_001128840.3(CACNA1D):c.3168-6C>G
|
rs72556355
|
0.00118
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)
|
rs72646808
|
0.00118
|
NM_000335.5(SCN5A):c.4297-14T>C
|
rs56104887
|
0.00117
|
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=)
|
rs201916326
|
0.00117
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)
|
rs149333409
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_198999.3(SLC26A5):c.78G>A (p.Pro26=)
|
rs141436712
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=)
|
rs147668465
|
0.00116
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu)
|
rs147195954
|
0.00116
|
NM_002471.4(MYH6):c.1122G>A (p.Ala374=)
|
rs148091079
|
0.00116
|
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys)
|
rs149460065
|
0.00116
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
NM_000260.4(MYO7A):c.3864C>T (p.Ala1288=)
|
rs144657938
|
0.00115
|
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu)
|
rs41313681
|
0.00115
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)
|
rs200187681
|
0.00115
|
NM_000335.5(SCN5A):c.1236C>T (p.Val412=)
|
rs45565936
|
0.00114
|
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His)
|
rs144717803
|
0.00114
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
NM_002473.6(MYH9):c.705+11C>T
|
rs201738304
|
0.00114
|
NM_004568.6(SERPINB6):c.708C>T (p.Asp236=)
|
rs144895010
|
0.00114
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00113
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
NM_001110219.3(GJB6):c.15G>A (p.Thr5=)
|
rs150075979
|
0.00113
|
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)
|
rs201218828
|
0.00113
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=)
|
rs372019333
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_020297.4(ABCC9):c.798T>C (p.Asp266=)
|
rs138356189
|
0.00113
|
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)
|
rs34055850
|
0.00113
|
NM_144573.4(NEXN):c.1618A>G (p.Met540Val)
|
rs201390657
|
0.00113
|
NM_194248.3(OTOF):c.3734-13T>C
|
rs368329882
|
0.00113
|
NM_001105206.3(LAMA4):c.4665+8G>T
|
rs184220860
|
0.00112
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
NM_001145472.3(LOXHD1):c.3340G>A (p.Gly1114Arg)
|
rs142931455
|
0.00112
|
NM_002473.6(MYH9):c.2448C>T (p.Cys816=)
|
rs113285582
|
0.00112
|
NM_080680.3(COL11A2):c.1612-10G>C
|
rs182657680
|
0.00112
|
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr)
|
rs150615457
|
0.00112
|
NM_144672.4(OTOA):c.2431+11T>C
|
rs463192
|
0.00112
|
NM_153676.4(USH1C):c.2184+12C>T
|
rs138547759
|
0.00112
|
NM_206933.4(USH2A):c.2094C>T (p.Thr698=)
|
rs141489104
|
0.00112
|
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp)
|
rs55857742
|
0.00111
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met)
|
rs143035953
|
0.00111
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00111
|
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu)
|
rs183159689
|
0.00111
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_014476.6(PDLIM3):c.387G>A (p.Pro129=)
|
rs138670107
|
0.00111
|
NM_017433.5(MYO3A):c.1566A>C (p.Gly522=)
|
rs139121564
|
0.00111
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser)
|
rs144417952
|
0.00110
|
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)
|
rs201835888
|
0.00110
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
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.66898G>A (p.Val22300Ile)
|
rs200343420
|
0.00110
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly)
|
rs145929269
|
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_004086.3(COCH):c.629+5C>T
|
rs202109231
|
0.00110
|
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
|
rs149911553
|
0.00110
|
NM_006941.4(SOX10):c.72C>T (p.Ser24=)
|
rs763019569
|
0.00110
|
NM_016239.4(MYO15A):c.9691-3C>A
|
rs142996507
|
0.00110
|
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)
|
rs764467903
|
0.00110
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)
|
rs55832587
|
0.00109
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00109
|
NM_000384.3(APOB):c.2068-4T>A
|
rs41291161
|
0.00108
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)
|
rs199560188
|
0.00108
|
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=)
|
rs370604524
|
0.00108
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
NM_001267550.2(TTN):c.16055-9A>C
|
rs368897883
|
0.00108
|
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)
|
rs371026448
|
0.00108
|
NM_001267550.2(TTN):c.91565-13C>T
|
rs200847757
|
0.00108
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)
|
rs140663434
|
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_002471.4(MYH6):c.2430-14C>T
|
rs190342289
|
0.00108
|
NM_004415.4(DSP):c.2986-6T>A
|
rs144748036
|
0.00108
|
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=)
|
rs372846962
|
0.00108
|
NM_057176.3(BSND):c.177+15G>C
|
rs193020037
|
0.00108
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_001103.4(ACTN2):c.441G>A (p.Ser147=)
|
rs150182164
|
0.00107
|
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)
|
rs35090700
|
0.00107
|
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln)
|
rs188054898
|
0.00107
|
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
|
rs199652066
|
0.00107
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=)
|
rs143049740
|
0.00107
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_001614.5(ACTG1):c.72C>T (p.Asp24=)
|
rs139517777
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
NM_000337.6(SGCD):c.144G>C (p.Val48=)
|
rs372152495
|
0.00106
|
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=)
|
rs34827377
|
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.41958A>G (p.Ala13986=)
|
rs186699871
|
0.00106
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
NM_001614.5(ACTG1):c.531T>C (p.Arg177=)
|
rs143851458
|
0.00106
|
NM_006005.3(WFS1):c.96G>A (p.Ser32=)
|
rs71539660
|
0.00106
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_201253.3(CRB1):c.484G>A (p.Val162Met)
|
rs137853138
|
0.00106
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
NM_001035.3(RYR2):c.1143C>T (p.Ser381=)
|
rs368844286
|
0.00105
|
NM_001039213.4(CEACAM16):c.508G>A (p.Ala170Thr)
|
rs200297676
|
0.00105
|
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=)
|
rs145203578
|
0.00105
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met)
|
rs201167216
|
0.00105
|
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)
|
rs72646852
|
0.00105
|
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu)
|
rs200875379
|
0.00105
|
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)
|
rs189255177
|
0.00105
|
NM_022124.6(CDH23):c.2865C>T (p.Arg955=)
|
rs79636933
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_000321.3(RB1):c.1961-12T>C
|
rs201697122
|
0.00104
|
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_001042702.5(PJVK):c.86A>G (p.Asp29Gly)
|
rs200502817
|
0.00104
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
NM_001267550.2(TTN):c.29605-12T>C
|
rs143352892
|
0.00104
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
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_005422.4(TECTA):c.1085G>T (p.Ser362Ile)
|
rs149001418
|
0.00104
|
NM_017433.5(MYO3A):c.1500G>A (p.Ala500=)
|
rs146797033
|
0.00104
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_198999.3(SLC26A5):c.1233+14A>G
|
rs191459658
|
0.00104
|
NM_000503.6(EYA1):c.1141-15T>G
|
rs186249248
|
0.00103
|
NM_001035.3(RYR2):c.1296C>A (p.Gly432=)
|
rs184176405
|
0.00103
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00103
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=)
|
rs187182557
|
0.00103
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00103
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
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_001292063.2(OTOG):c.6012C>T (p.Asp2004=)
|
rs61734252
|
0.00103
|
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly)
|
rs370149278
|
0.00103
|
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=)
|
rs150841154
|
0.00103
|
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
|
rs138329459
|
0.00103
|
NM_005422.4(TECTA):c.4788C>T (p.Ile1596=)
|
rs150561147
|
0.00103
|
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)
|
rs146555195
|
0.00103
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
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_001134363.3(RBM20):c.280C>T (p.Leu94=)
|
rs182768779
|
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.49998T>C (p.Asn16666=)
|
rs376917681
|
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_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr)
|
rs144209883
|
0.00102
|
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln)
|
rs147967199
|
0.00102
|
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
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_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys)
|
rs149165620
|
0.00101
|
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=)
|
rs150266932
|
0.00101
|
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)
|
rs201005813
|
0.00101
|
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His)
|
rs192234924
|
0.00101
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
NM_022124.6(CDH23):c.4287C>T (p.Pro1429=)
|
rs377493327
|
0.00101
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
NM_032578.4(MYPN):c.1122G>A (p.Glu374=)
|
rs145103325
|
0.00101
|
NM_033118.4(MYLK2):c.102A>G (p.Lys34=)
|
rs28763880
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_000169.3(GLA):c.978G>A (p.Lys326=)
|
rs151195362
|
0.00100
|
NM_001267550.2(TTN):c.1776T>C (p.Asp592=)
|
rs147081804
|
0.00100
|
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)
|
rs150682764
|
0.00100
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala)
|
rs201104206
|
0.00100
|
NM_004568.6(SERPINB6):c.1095C>T (p.Asn365=)
|
rs145397970
|
0.00100
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
NM_001267550.2(TTN):c.39296-13C>T
|
rs372380420
|
0.00099
|
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
|
rs139664153
|
0.00099
|
NM_015404.4(WHRN):c.234G>A (p.Leu78=)
|
rs148785227
|
0.00099
|
NM_015404.4(WHRN):c.75C>T (p.Gly25=)
|
rs771128098
|
0.00099
|
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn)
|
rs201737186
|
0.00099
|
NM_017950.4(CCDC40):c.850G>C (p.Asp284His)
|
rs201042940
|
0.00099
|
NM_020433.5(JPH2):c.1971G>A (p.Glu657=)
|
rs142333841
|
0.00099
|
NM_021167.5(GATAD1):c.96T>G (p.His32Gln)
|
rs532003876
|
0.00099
|
NM_032578.4(MYPN):c.465C>G (p.Ala155=)
|
rs142867001
|
0.00099
|
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)
|
rs138141474
|
0.00099
|
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln)
|
rs201644674
|
0.00099
|
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)
|
rs150547672
|
0.00098
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_001145809.2(MYH14):c.1275C>T (p.Thr425=)
|
rs149221129
|
0.00098
|
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln)
|
rs113570783
|
0.00098
|
NM_001199799.2(ILDR1):c.225A>G (p.Ser75=)
|
rs146402126
|
0.00098
|
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)
|
rs72646842
|
0.00098
|
NM_001378609.3(OTOGL):c.4199+10G>A
|
rs149452803
|
0.00098
|
NM_001378609.3(OTOGL):c.5617C>A (p.Pro1873Thr)
|
rs141867785
|
0.00098
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
NM_015404.4(WHRN):c.1149C>T (p.Thr383=)
|
rs149558159
|
0.00098
|
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln)
|
rs145019640
|
0.00098
|
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=)
|
rs144122893
|
0.00097
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)
|
rs150544093
|
0.00097
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00097
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00097
|
NM_017837.4(PIGV):c.349A>G (p.Ile117Val)
|
rs142192097
|
0.00097
|
NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg)
|
rs142844880
|
0.00097
|
NM_206933.4(USH2A):c.3158-7A>G
|
rs201558076
|
0.00097
|
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_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)
|
rs73973139
|
0.00096
|
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)
|
rs147207100
|
0.00096
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
NM_001378609.3(OTOGL):c.6626C>T (p.Thr2209Ile)
|
rs146572555
|
0.00096
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_006012.4(CLPP):c.399C>T (p.Tyr133=)
|
rs140025832
|
0.00096
|
NM_006016.6(CD164):c.575G>A (p.Arg192Gln)
|
rs62436104
|
0.00096
|
NM_007078.3(LDB3):c.1653C>T (p.Cys551=)
|
rs45581435
|
0.00096
|
NM_017837.4(PIGV):c.348G>A (p.Leu116=)
|
rs148662665
|
0.00096
|
NM_022124.6(CDH23):c.510C>T (p.Ser170=)
|
rs143341423
|
0.00096
|
NM_032578.4(MYPN):c.1460-14T>A
|
rs201156035
|
0.00096
|
NM_032578.4(MYPN):c.2880T>G (p.Ser960=)
|
rs146028308
|
0.00096
|
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly)
|
rs145142157
|
0.00096
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
NM_001039876.3(SYNE4):c.7C>T (p.Leu3=)
|
rs373148223
|
0.00095
|
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=)
|
rs149746093
|
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_002471.4(MYH6):c.3303G>A (p.Val1101=)
|
rs143825034
|
0.00095
|
NM_007078.3(LDB3):c.993G>A (p.Ala331=)
|
rs140347820
|
0.00095
|
NM_017433.5(MYO3A):c.585+4A>T
|
rs202189844
|
0.00095
|
NM_022124.6(CDH23):c.7660+13C>T
|
rs374011250
|
0.00095
|
NM_022124.6(CDH23):c.8980-12C>T
|
rs111583276
|
0.00095
|
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr)
|
rs149941106
|
0.00095
|
NM_001031679.3(MSRB3):c.114T>C (p.Phe38=)
|
rs114599476
|
0.00094
|
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn)
|
rs138452803
|
0.00094
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)
|
rs55892928
|
0.00094
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_006005.3(WFS1):c.1321G>A (p.Val441Met)
|
rs150894674
|
0.00094
|
NM_030665.4(RAI1):c.840_843del (p.Gln280fs)
|
rs775735568
|
0.00094
|
NM_133261.3(GIPC3):c.906C>T (p.Ala302=)
|
rs140960269
|
0.00094
|
NM_000090.4(COL3A1):c.1051-13G>A
|
rs371934572
|
0.00093
|
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His)
|
rs3752579
|
0.00093
|
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)
|
rs201337011
|
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_001267550.2(TTN):c.65776G>A (p.Val21926Met)
|
rs145527033
|
0.00093
|
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)
|
rs201069672
|
0.00093
|
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=)
|
rs371612136
|
0.00093
|
NM_001318895.3(FHL2):c.85G>A (p.Val29Met)
|
rs56284940
|
0.00093
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)
|
rs148735953
|
0.00093
|
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp)
|
rs140542643
|
0.00093
|
NM_194248.3(OTOF):c.1530C>T (p.Ile510=)
|
rs150452778
|
0.00093
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=)
|
rs145151677
|
0.00093
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys)
|
rs59148238
|
0.00092
|
NM_002471.4(MYH6):c.1083G>T (p.Gly361=)
|
rs138928022
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_022124.6(CDH23):c.4488+7C>T
|
rs374215303
|
0.00092
|
NM_032119.4(ADGRV1):c.8172C>T (p.Phe2724=)
|
rs371019516
|
0.00092
|
NM_152594.3(SPRED1):c.675C>T (p.Ser225=)
|
rs144764225
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000257.4(MYH7):c.930T>C (p.Tyr310=)
|
rs111626355
|
0.00091
|
NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=)
|
rs201843208
|
0.00091
|
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)
|
rs147293964
|
0.00091
|
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=)
|
rs186563991
|
0.00091
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
NM_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00091
|
NM_001378609.3(OTOGL):c.4280-5T>C
|
rs200889330
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_014000.3(VCL):c.660C>T (p.Asn220=)
|
rs56264452
|
0.00091
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974
|
0.00091
|
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)
|
rs111033366
|
0.00091
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)
|
rs55938627
|
0.00090
|
NM_001267550.2(TTN):c.25351+13C>G
|
rs138362885
|
0.00090
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
NM_002230.4(JUP):c.567C>T (p.Val189=)
|
rs35297577
|
0.00090
|
NM_002471.4(MYH6):c.3297G>A (p.Glu1099=)
|
rs144957142
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_144991.3(TSPEAR):c.714G>A (p.Ala238=)
|
rs146025689
|
0.00090
|
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser)
|
rs61746118
|
0.00089
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=)
|
rs146442638
|
0.00089
|
NM_001267550.2(TTN):c.15906C>T (p.Val5302=)
|
rs375179152
|
0.00089
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys)
|
rs116833707
|
0.00089
|
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)
|
rs142890313
|
0.00089
|
NM_001267550.2(TTN):c.18531G>C (p.Val6177=)
|
rs370684491
|
0.00088
|
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)
|
rs139790668
|
0.00088
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=)
|
rs193191368
|
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_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser)
|
rs192944055
|
0.00088
|
NM_001379180.1(ESRRB):c.*1546C>T
|
rs201448899
|
0.00088
|
NM_002471.4(MYH6):c.3978+8C>T
|
rs367866050
|
0.00088
|
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln)
|
rs143269195
|
0.00088
|
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=)
|
rs76069100
|
0.00088
|
NM_002473.6(MYH9):c.615C>T (p.Gly205=)
|
rs139466141
|
0.00088
|
NM_002880.4(RAF1):c.1830A>G (p.Gln610=)
|
rs141791080
|
0.00088
|
NM_004999.4(MYO6):c.2175A>G (p.Lys725=)
|
rs116571790
|
0.00088
|
NM_007078.3(LDB3):c.295C>T (p.Pro99Ser)
|
rs201693259
|
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_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=)
|
rs41298745
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=)
|
rs373182578
|
0.00087
|
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His)
|
rs189248390
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_001378373.1(MBL2):c.132C>T (p.Asn44=)
|
rs34120190
|
0.00087
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu)
|
rs369865672
|
0.00087
|
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=)
|
rs564053026
|
0.00087
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00087
|
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)
|
rs140326154
|
0.00087
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_000548.5(TSC2):c.2784C>T (p.Pro928=)
|
rs45517267
|
0.00086
|
NM_001039213.4(CEACAM16):c.519C>T (p.Val173=)
|
rs114645388
|
0.00086
|
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)
|
rs146731467
|
0.00086
|
NM_001110219.3(GJB6):c.607A>G (p.Met203Val)
|
rs200674715
|
0.00086
|
NM_001145809.2(MYH14):c.1992G>A (p.Pro664=)
|
rs192745436
|
0.00086
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=)
|
rs186105748
|
0.00086
|
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)
|
rs201836227
|
0.00086
|
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)
|
rs368243641
|
0.00086
|
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=)
|
rs147419066
|
0.00086
|
NM_014000.3(VCL):c.1572C>T (p.Ala524=)
|
rs138566234
|
0.00086
|
NM_016203.4(PRKAG2):c.1584+7C>T
|
rs111627309
|
0.00086
|
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys)
|
rs183851734
|
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_178335.3(CCDC50):c.617C>T (p.Ser206Phe)
|
rs138153104
|
0.00086
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00085
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)
|
rs150549897
|
0.00085
|
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)
|
rs145680314
|
0.00085
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
NM_001035.3(RYR2):c.231G>A (p.Ala77=)
|
rs376225470
|
0.00084
|
NM_001145809.2(MYH14):c.5991G>A (p.Thr1997=)
|
rs181567755
|
0.00084
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_001330691.3(CEP78):c.1194A>G (p.Ala398=)
|
rs138501486
|
0.00084
|
NM_005633.4(SOS1):c.2238T>C (p.Asn746=)
|
rs75877625
|
0.00084
|
NM_015404.4(WHRN):c.1992G>A (p.Pro664=)
|
rs142568702
|
0.00084
|
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=)
|
rs34803755
|
0.00084
|
NM_022114.4(PRDM16):c.429C>T (p.Cys143=)
|
rs150097149
|
0.00084
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
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.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile)
|
rs182125538
|
0.00083
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
NM_002473.6(MYH9):c.1242C>T (p.Ile414=)
|
rs138436678
|
0.00083
|
NM_004086.3(COCH):c.1348A>G (p.Ile450Val)
|
rs139503327
|
0.00083
|
NM_004415.4(DSP):c.741G>A (p.Ala247=)
|
rs2806234
|
0.00083
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
NM_032119.4(ADGRV1):c.18803-13A>G
|
rs41305902
|
0.00083
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=)
|
rs139647701
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_000257.4(MYH7):c.1395C>T (p.Phe465=)
|
rs45508293
|
0.00082
|
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)
|
rs72647541
|
0.00082
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00082
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_004700.4(KCNQ4):c.465A>C (p.Gly155=)
|
rs145129529
|
0.00082
|
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser)
|
rs139592595
|
0.00082
|
NM_080680.3(COL11A2):c.4015-8T>C
|
rs377001136
|
0.00082
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00081
|
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)
|
rs202108224
|
0.00081
|
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu)
|
rs200049911
|
0.00081
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
NM_001292063.2(OTOG):c.385G>A (p.Val129Met)
|
rs552304627
|
0.00081
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_002473.6(MYH9):c.*8C>T
|
rs201455315
|
0.00081
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)
|
rs139258361
|
0.00081
|
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val)
|
rs145538358
|
0.00081
|
NM_005548.3(KARS1):c.612A>G (p.Thr204=)
|
rs141539149
|
0.00081
|
NM_007214.5(SEC63):c.340-7T>C
|
rs1569557
|
0.00081
|
NM_032578.4(MYPN):c.1293C>A (p.Ile431=)
|
rs147184158
|
0.00081
|
NM_153700.2(STRC):c.4157T>C (p.Val1386Ala)
|
rs377674360
|
0.00081
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)
|
rs142284613
|
0.00081
|
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=)
|
rs150286388
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_001267550.2(TTN):c.32807-10T>A
|
rs138192315
|
0.00080
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00080
|
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)
|
rs147576439
|
0.00080
|
NM_004517.4(ILK):c.65A>G (p.Asn22Ser)
|
rs114115159
|
0.00080
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
|
rs139287714
|
0.00080
|
NM_153676.4(USH1C):c.2184+10T>C
|
rs200889109
|
0.00080
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_173477.5(USH1G):c.705G>A (p.Glu235=)
|
rs149002004
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)
|
rs183898408
|
0.00079
|
NM_001018005.2(TPM1):c.115-262C>T
|
rs74573041
|
0.00079
|
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)
|
rs150015024
|
0.00079
|
NM_001267550.2(TTN):c.1537-4G>A
|
rs56006378
|
0.00079
|
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=)
|
rs373842558
|
0.00079
|
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=)
|
rs372609980
|
0.00079
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)
|
rs190406444
|
0.00079
|
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His)
|
rs139375212
|
0.00079
|
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)
|
rs200532919
|
0.00079
|
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)
|
rs143342988
|
0.00079
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_000257.4(MYH7):c.261C>T (p.Ile87=)
|
rs148560996
|
0.00078
|
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=)
|
rs142559688
|
0.00078
|
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)
|
rs150069819
|
0.00078
|
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)
|
rs200588338
|
0.00078
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00078
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
NM_001267550.2(TTN):c.98683+7G>C
|
rs141150066
|
0.00078
|
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)
|
rs191802172
|
0.00078
|
NM_002473.6(MYH9):c.1843+14C>A
|
rs372865551
|
0.00078
|
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)
|
rs184043065
|
0.00078
|
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)
|
rs200946170
|
0.00078
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)
|
rs200098356
|
0.00078
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_000258.3(MYL3):c.559+6C>T
|
rs199474709
|
0.00077
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met)
|
rs139695699
|
0.00077
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
NM_001371333.1(DIABLO):c.546C>T (p.Thr182=)
|
rs149387774
|
0.00077
|
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)
|
rs17848880
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)
|
rs145343609
|
0.00077
|
NM_144573.4(NEXN):c.777A>G (p.Gln259=)
|
rs375544798
|
0.00077
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile)
|
rs200562865
|
0.00076
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe)
|
rs121912502
|
0.00076
|
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00076
|
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly)
|
rs138753870
|
0.00076
|
NM_000335.5(SCN5A):c.2437-13C>T
|
rs45455099
|
0.00076
|
NM_000432.4(MYL2):c.36C>T (p.Gly12=)
|
rs139794370
|
0.00076
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)
|
rs146333579
|
0.00076
|
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)
|
rs142036299
|
0.00076
|
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
|
rs148551876
|
0.00076
|
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)
|
rs143368674
|
0.00076
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)
|
rs201285872
|
0.00076
|
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp)
|
rs61734125
|
0.00076
|
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=)
|
rs116854981
|
0.00076
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)
|
rs146517083
|
0.00076
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)
|
rs146132083
|
0.00076
|
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr)
|
rs373294263
|
0.00076
|
NM_024915.4(GRHL2):c.804C>T (p.Thr268=)
|
rs55682875
|
0.00076
|
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)
|
rs139404261
|
0.00076
|
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)
|
rs201236317
|
0.00076
|
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr)
|
rs111033351
|
0.00076
|
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)
|
rs111033450
|
0.00076
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
NM_001039213.4(CEACAM16):c.999C>T (p.Asp333=)
|
rs200767877
|
0.00075
|
NM_001105206.3(LAMA4):c.297+8G>A
|
rs200595773
|
0.00075
|
NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=)
|
rs375866139
|
0.00075
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)
|
rs72646867
|
0.00075
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu)
|
rs117188693
|
0.00075
|
NM_014000.3(VCL):c.1348A>C (p.Arg450=)
|
rs142128712
|
0.00075
|
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)
|
rs754894988
|
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_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00074
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00074
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)
|
rs148468627
|
0.00074
|
NM_002230.4(JUP):c.2059A>G (p.Ile687Val)
|
rs138366708
|
0.00074
|
NM_003280.3(TNNC1):c.201C>T (p.Asp67=)
|
rs150881554
|
0.00074
|
NM_005188.4(CBL):c.1641T>C (p.Pro547=)
|
rs61755280
|
0.00074
|
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile)
|
rs61758992
|
0.00074
|
NM_014908.4(DOLK):c.671A>T (p.Asp224Val)
|
rs17485436
|
0.00074
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00074
|
NM_133379.5(TTN):c.13859A>C (p.Gln4620Pro)
|
rs139172299
|
0.00074
|
NM_153676.4(USH1C):c.1632C>T (p.Asp544=)
|
rs142545736
|
0.00074
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_000501.4(ELN):c.212C>T (p.Ala71Val)
|
rs41350445
|
0.00073
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_001370259.2(MEN1):c.-22C>A
|
rs374749001
|
0.00073
|
NM_001379180.1(ESRRB):c.414G>A (p.Val138=)
|
rs141586518
|
0.00073
|
NM_001384140.1(PCDH15):c.1653G>A (p.Gly551=)
|
rs141281651
|
0.00073
|
NM_001384140.1(PCDH15):c.243G>A (p.Val81=)
|
rs151119732
|
0.00073
|
NM_002880.4(RAF1):c.-201C>A
|
rs532668125
|
0.00073
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
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_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp)
|
rs201028204
|
0.00073
|
NM_194248.3(OTOF):c.2076G>T (p.Arg692=)
|
rs138769870
|
0.00073
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00072
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00072
|
NM_001292063.2(OTOG):c.3006+11G>A
|
rs150247729
|
0.00072
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn)
|
rs112430701
|
0.00072
|
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=)
|
rs148291450
|
0.00072
|
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)
|
rs201667254
|
0.00072
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=)
|
rs377283955
|
0.00071
|
NM_000257.4(MYH7):c.2553C>A (p.Ser851=)
|
rs144291282
|
0.00071
|
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)
|
rs1805125
|
0.00071
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)
|
rs138064129
|
0.00071
|
NM_001039876.3(SYNE4):c.317A>C (p.Gln106Pro)
|
rs200994810
|
0.00071
|
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)
|
rs199910006
|
0.00071
|
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn)
|
rs111033261
|
0.00071
|
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)
|
rs55838839
|
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_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
0.00071
|
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)
|
rs201388780
|
0.00071
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
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_133379.5(TTN):c.11075G>C (p.Ser3692Thr)
|
rs147314430
|
0.00071
|
NM_133379.5(TTN):c.16613G>A (p.Arg5538His)
|
rs145932311
|
0.00071
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=)
|
rs200594132
|
0.00070
|
NM_000551.4(VHL):c.150C>G (p.Ala50=)
|
rs61751580
|
0.00070
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr)
|
rs139520402
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_001292063.2(OTOG):c.3229A>G (p.Ile1077Val)
|
rs56359117
|
0.00070
|
NM_001692.4(ATP6V1B1):c.688-7T>C
|
rs193240706
|
0.00070
|
NM_002906.4(RDX):c.1468G>A (p.Asp490Asn)
|
rs34471100
|
0.00070
|
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln)
|
rs200546031
|
0.00070
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=)
|
rs145934142
|
0.00070
|
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser)
|
rs142307980
|
0.00070
|
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)
|
rs138130914
|
0.00070
|
NM_152594.3(SPRED1):c.939G>A (p.Thr313=)
|
rs140644874
|
0.00070
|
NM_153676.4(USH1C):c.1740T>C (p.Pro580=)
|
rs200085788
|
0.00070
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00070
|
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)
|
rs201834743
|
0.00069
|
NM_000363.5(TNNI3):c.25-4C>T
|
rs202086705
|
0.00069
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)
|
rs139717960
|
0.00069
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)
|
rs201366522
|
0.00069
|
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)
|
rs146419641
|
0.00069
|
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=)
|
rs148632119
|
0.00069
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731
|
0.00069
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu)
|
rs143749154
|
0.00068
|
NM_001103.4(ACTN2):c.877-6G>A
|
rs397516585
|
0.00068
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)
|
rs183923129
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met)
|
rs145502954
|
0.00068
|
NM_004333.6(BRAF):c.1332G>A (p.Arg444=)
|
rs56101602
|
0.00068
|
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser)
|
rs139185707
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)
|
rs145369252
|
0.00068
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=)
|
rs113067047
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg)
|
rs151242039
|
0.00068
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln)
|
rs146696590
|
0.00067
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=)
|
rs150237947
|
0.00067
|
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr)
|
rs545740473
|
0.00067
|
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=)
|
rs144290224
|
0.00067
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
NM_004415.4(DSP):c.782C>T (p.Ala261Val)
|
rs139509870
|
0.00067
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821
|
0.00067
|
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln)
|
rs147088274
|
0.00067
|
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp)
|
rs146257403
|
0.00067
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter)
|
rs200484521
|
0.00066
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=)
|
rs146426213
|
0.00066
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=)
|
rs186972955
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_001379180.1(ESRRB):c.*1517C>T
|
rs201726554
|
0.00066
|
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153
|
0.00066
|
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)
|
rs77416370
|
0.00066
|
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)
|
rs151036570
|
0.00066
|
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=)
|
rs144179406
|
0.00066
|
NM_002473.6(MYH9):c.591G>A (p.Ser197=)
|
rs140241271
|
0.00066
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00066
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)
|
rs574196735
|
0.00066
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)
|
rs201416399
|
0.00066
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874
|
0.00066
|
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn)
|
rs202084078
|
0.00066
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=)
|
rs200463088
|
0.00065
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=)
|
rs201338158
|
0.00065
|
NM_030662.4(MAP2K2):c.1093-6T>C
|
rs369681843
|
0.00065
|
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)
|
rs145448362
|
0.00065
|
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)
|
rs139921272
|
0.00065
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)
|
rs144465613
|
0.00064
|
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)
|
rs111033229
|
0.00064
|
NM_000335.5(SCN5A):c.630G>A (p.Val210=)
|
rs193922727
|
0.00064
|
NM_001032283.3(TMPO):c.565+2149C>T
|
rs34150443
|
0.00064
|
NM_001039141.3(TRIOBP):c.5767G>A (p.Ala1923Thr)
|
rs150947392
|
0.00064
|
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile)
|
rs70940811
|
0.00064
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)
|
rs72648266
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)
|
rs200596739
|
0.00064
|
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp)
|
rs114875104
|
0.00064
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser)
|
rs144918959
|
0.00064
|
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His)
|
rs180748688
|
0.00064
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=)
|
rs138294643
|
0.00063
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00063
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=)
|
rs368930040
|
0.00063
|
NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala)
|
rs200529550
|
0.00063
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00063
|
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn)
|
rs112009206
|
0.00063
|
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=)
|
rs140495148
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
NM_001267550.2(TTN):c.6790+12C>T
|
rs200187117
|
0.00063
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr)
|
rs376122149
|
0.00063
|
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=)
|
rs145486636
|
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_006005.3(WFS1):c.1779G>C (p.Glu593Asp)
|
rs144783536
|
0.00063
|
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val)
|
rs199740747
|
0.00063
|
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys)
|
rs201618718
|
0.00063
|
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=)
|
rs146245515
|
0.00063
|
NM_022114.4(PRDM16):c.2786C>A (p.Pro929His)
|
rs145632008
|
0.00063
|
NM_022124.6(CDH23):c.1185C>T (p.Ser395=)
|
rs185105210
|
0.00063
|
NM_032578.4(MYPN):c.2703+13G>A
|
rs375320760
|
0.00063
|
NM_033360.4(KRAS):c.-48_-29dup
|
rs730880342
|
0.00063
|
NM_147196.3(TMIE):c.40G>A (p.Gly14Ser)
|
rs397517869
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)
|
rs111033333
|
0.00063
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_001145809.2(MYH14):c.2680C>A (p.Arg894=)
|
rs34805056
|
0.00062
|
NM_001145809.2(MYH14):c.5683C>T (p.Arg1895Cys)
|
rs200485394
|
0.00062
|
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)
|
rs200118743
|
0.00062
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr)
|
rs2234933
|
0.00062
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe)
|
rs148426950
|
0.00062
|
NM_020297.4(ABCC9):c.2199-13G>A
|
rs201226082
|
0.00062
|
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=)
|
rs200435877
|
0.00062
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=)
|
rs150917752
|
0.00061
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)
|
rs370036981
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
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_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp)
|
rs764159927
|
0.00061
|
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser)
|
rs368261417
|
0.00061
|
NM_001368067.1(LDB3):c.780C>T (p.Asn260=)
|
rs372789789
|
0.00061
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
NM_002473.6(MYH9):c.4344+10C>T
|
rs200977419
|
0.00061
|
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=)
|
rs144166521
|
0.00061
|
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)
|
rs146175803
|
0.00061
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
NM_022124.6(CDH23):c.9198+13C>T
|
rs375384238
|
0.00061
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
NM_057176.3(BSND):c.851G>A (p.Gly284Asp)
|
rs150426464
|
0.00061
|
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu)
|
rs140388347
|
0.00061
|
NM_153676.4(USH1C):c.1086-13G>T
|
rs200490320
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)
|
rs148504065
|
0.00061
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=)
|
rs147069572
|
0.00060
|
NM_001105206.3(LAMA4):c.196-15G>C
|
rs371906362
|
0.00060
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
NM_032383.5(HPS3):c.1152C>T (p.His384=)
|
rs113381494
|
0.00060
|
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met)
|
rs200848641
|
0.00059
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00059
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=)
|
rs72648216
|
0.00059
|
NM_001378609.3(OTOGL):c.1441+10T>A
|
rs367996419
|
0.00059
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_024915.4(GRHL2):c.689G>A (p.Ser230Asn)
|
rs140423160
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_133261.3(GIPC3):c.207C>T (p.Phe69=)
|
rs727504653
|
0.00059
|
NM_133379.5(TTN):c.10920T>C (p.Ser3640=)
|
rs142585268
|
0.00059
|
NM_138691.3(TMC1):c.1566+8C>T
|
rs202184917
|
0.00059
|
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn)
|
rs111033352
|
0.00059
|
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=)
|
rs200663253
|
0.00058
|
NM_000257.4(MYH7):c.2514G>A (p.Pro838=)
|
rs45560638
|
0.00058
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_001032283.3(TMPO):c.565+2368G>A
|
rs138295270
|
0.00058
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)
|
rs200793989
|
0.00058
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)
|
rs183844833
|
0.00058
|
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=)
|
rs542151771
|
0.00058
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
NM_002764.4(PRPS1):c.942C>T (p.Ser314=)
|
rs147731055
|
0.00058
|
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val)
|
rs200930743
|
0.00058
|
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)
|
rs143345726
|
0.00058
|
NM_022114.4(PRDM16):c.38-14G>A
|
rs368409902
|
0.00058
|
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=)
|
rs202166096
|
0.00058
|
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln)
|
rs147596628
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_206933.4(USH2A):c.485+12T>C
|
rs201857884
|
0.00058
|
NM_000379.4(XDH):c.1686+1G>C
|
rs148412639
|
0.00057
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)
|
rs140220538
|
0.00057
|
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys)
|
rs71524353
|
0.00057
|
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)
|
rs375308440
|
0.00057
|
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter)
|
rs71454844
|
0.00057
|
NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)
|
rs139179263
|
0.00057
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=)
|
rs373587801
|
0.00056
|
NM_001354604.2(MITF):c.104+24226G>A
|
rs373660547
|
0.00056
|
NM_001379180.1(ESRRB):c.*1535G>A
|
rs200237229
|
0.00056
|
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro)
|
rs117747744
|
0.00056
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00056
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060
|
0.00056
|
NM_032578.4(MYPN):c.1935C>T (p.Pro645=)
|
rs71535754
|
0.00056
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00056
|
NM_138691.3(TMC1):c.1763+3A>G
|
rs370898981
|
0.00056
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=)
|
rs368221517
|
0.00055
|
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)
|
rs199868951
|
0.00055
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_002473.6(MYH9):c.3216G>A (p.Ala1072=)
|
rs139441456
|
0.00055
|
NM_004281.4(BAG3):c.870C>G (p.Pro290=)
|
rs140737221
|
0.00055
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00055
|
NM_016203.4(PRKAG2):c.1106+9G>C
|
rs200429988
|
0.00055
|
NM_020297.4(ABCC9):c.2770-13A>G
|
rs184123387
|
0.00055
|
NM_022124.6(CDH23):c.1752+6G>A
|
rs369013539
|
0.00055
|
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp)
|
rs2229790
|
0.00055
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000257.4(MYH7):c.3777C>T (p.His1259=)
|
rs149103761
|
0.00054
|
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys)
|
rs142257684
|
0.00054
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)
|
rs200529923
|
0.00054
|
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)
|
rs140614903
|
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_001267550.2(TTN):c.63876C>T (p.Asn21292=)
|
rs199598302
|
0.00054
|
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)
|
rs201896662
|
0.00054
|
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)
|
rs201230446
|
0.00054
|
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys)
|
rs141169746
|
0.00054
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=)
|
rs727505358
|
0.00054
|
NM_002473.6(MYH9):c.1566G>A (p.Pro522=)
|
rs145517108
|
0.00054
|
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=)
|
rs140749690
|
0.00054
|
NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr)
|
rs140623300
|
0.00054
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr)
|
rs201968775
|
0.00054
|
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys)
|
rs147011199
|
0.00054
|
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)
|
rs141430703
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000601.6(HGF):c.1891G>A (p.Val631Met)
|
rs145494248
|
0.00053
|
NM_001005242.3(PKP2):c.1379-2054C>T
|
rs144620127
|
0.00053
|
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser)
|
rs138193709
|
0.00053
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu)
|
rs150434290
|
0.00053
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)
|
rs78814506
|
0.00053
|
NM_001292063.2(OTOG):c.1050C>T (p.His350=)
|
rs575344158
|
0.00053
|
NM_001330.5(CTF1):c.280C>T (p.Leu94=)
|
rs397516648
|
0.00053
|
NM_001614.5(ACTG1):c.1017G>C (p.Val339=)
|
rs111305526
|
0.00053
|
NM_001614.5(ACTG1):c.774G>A (p.Pro258=)
|
rs61997068
|
0.00053
|
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser)
|
rs121434431
|
0.00053
|
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)
|
rs142004123
|
0.00053
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00053
|
NM_022124.6(CDH23):c.1446C>A (p.Val482=)
|
rs200324241
|
0.00053
|
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile)
|
rs200786014
|
0.00053
|
NM_022124.6(CDH23):c.9077+7C>T
|
rs76114420
|
0.00053
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00053
|
NM_133379.5(TTN):c.14812A>G (p.Met4938Val)
|
rs145581345
|
0.00053
|
NM_147196.3(TMIE):c.219G>A (p.Thr73=)
|
rs202208051
|
0.00053
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu)
|
rs144045691
|
0.00052
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val)
|
rs149615862
|
0.00052
|
NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln)
|
rs199696801
|
0.00052
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)
|
rs201804323
|
0.00052
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)
|
rs199798449
|
0.00052
|
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu)
|
rs200121200
|
0.00052
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=)
|
rs151098305
|
0.00052
|
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln)
|
rs1799912
|
0.00052
|
NM_194248.3(OTOF):c.237G>A (p.Gly79=)
|
rs117985483
|
0.00052
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000260.4(MYO7A):c.486C>T (p.Ala162=)
|
rs367687624
|
0.00051
|
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)
|
rs140927806
|
0.00051
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
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_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
NM_001103.4(ACTN2):c.927C>T (p.Pro309=)
|
rs145411160
|
0.00051
|
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=)
|
rs35772073
|
0.00051
|
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)
|
rs397516621
|
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.55079C>T (p.Pro18360Leu)
|
rs192788942
|
0.00051
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser)
|
rs543999548
|
0.00051
|
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met)
|
rs542442173
|
0.00051
|
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser)
|
rs374634079
|
0.00051
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)
|
rs148530934
|
0.00051
|
NM_005633.4(SOS1):c.2760G>A (p.Arg920=)
|
rs149092581
|
0.00051
|
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val)
|
rs146218038
|
0.00051
|
NM_014000.3(VCL):c.2521G>C (p.Asp841His)
|
rs150385900
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_017780.4(CHD7):c.2829G>A (p.Glu943=)
|
rs374877439
|
0.00051
|
NM_020297.4(ABCC9):c.372T>C (p.Asn124=)
|
rs377384557
|
0.00051
|
NM_022114.4(PRDM16):c.142G>A (p.Val48Met)
|
rs199968728
|
0.00051
|
NM_022124.6(CDH23):c.67+8C>T
|
rs186548927
|
0.00051
|
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val)
|
rs146497334
|
0.00051
|
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp)
|
rs146522169
|
0.00051
|
NM_144991.3(TSPEAR):c.943G>A (p.Val315Met)
|
rs148421362
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)
|
rs2285895
|
0.00050
|
NM_001077365.2(POMT1):c.42C>T (p.Asp14=)
|
rs150937126
|
0.00050
|
NM_001146079.2(CLDN14):c.690C>T (p.His230=)
|
rs149733854
|
0.00050
|
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)
|
rs200825430
|
0.00050
|
NM_001292063.2(OTOG):c.7935+11G>A
|
rs188456860
|
0.00050
|
NM_005633.4(SOS1):c.345+12_345+13dup
|
rs397517167
|
0.00050
|
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)
|
rs144840779
|
0.00050
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu)
|
rs145468090
|
0.00050
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000257.4(MYH7):c.2907C>T (p.His969=)
|
rs142573531
|
0.00049
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_000260.4(MYO7A):c.5559C>T (p.His1853=)
|
rs373612656
|
0.00049
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
NM_001105206.3(LAMA4):c.4665+15G>A
|
rs377415750
|
0.00049
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)
|
rs370080995
|
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_001384140.1(PCDH15):c.4671+1046A>G
|
rs201855435
|
0.00049
|
NM_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
NM_002230.4(JUP):c.297G>A (p.Ser99=)
|
rs200976464
|
0.00049
|
NM_005633.4(SOS1):c.1203-13T>A
|
rs145166996
|
0.00049
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp)
|
rs149813580
|
0.00049
|
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile)
|
rs201734915
|
0.00049
|
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys)
|
rs140154015
|
0.00049
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
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_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_000138.5(FBN1):c.5065+10A>G
|
rs375945405
|
0.00048
|
NM_000258.3(MYL3):c.482-14C>A
|
rs201780962
|
0.00048
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)
|
rs3729712
|
0.00048
|
NM_000503.6(EYA1):c.1699-8T>C
|
rs201537030
|
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_001103.4(ACTN2):c.2367+8A>G
|
rs112714025
|
0.00048
|
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)
|
rs148223897
|
0.00048
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00048
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)
|
rs72646822
|
0.00048
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly)
|
rs545257884
|
0.00048
|
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp)
|
rs559512010
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_003068.5(SNAI2):c.365C>T (p.Ala122Val)
|
rs181954619
|
0.00048
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)
|
rs554853074
|
0.00048
|
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp)
|
rs374664141
|
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_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln)
|
rs184605839
|
0.00048
|
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=)
|
rs147321712
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)
|
rs193068692
|
0.00047
|
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
|
rs776989258
|
0.00047
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)
|
rs2303834
|
0.00047
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)
|
rs202017608
|
0.00047
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
NM_024915.4(GRHL2):c.454G>A (p.Val152Met)
|
rs147703146
|
0.00047
|
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
|
rs183633457
|
0.00047
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
|
rs146445078
|
0.00047
|
NM_206933.4(USH2A):c.9258+15T>C
|
rs181894778
|
0.00047
|
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_000335.5(SCN5A):c.3663+10T>C
|
rs200656652
|
0.00046
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
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_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)
|
rs145897390
|
0.00046
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
NM_001267550.2(TTN):c.65276-8T>C
|
rs377484398
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)
|
rs73036368
|
0.00046
|
NM_001371333.1(DIABLO):c.315+6T>A
|
rs370571609
|
0.00046
|
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys)
|
rs199518750
|
0.00046
|
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)
|
rs138158369
|
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_005228.5(EGFR):c.2289C>G (p.Ala763=)
|
rs117420095
|
0.00046
|
NM_005228.5(EGFR):c.2748C>T (p.Asp916=)
|
rs41396448
|
0.00046
|
NM_005422.4(TECTA):c.2638A>G (p.Thr880Ala)
|
rs143315827
|
0.00046
|
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn)
|
rs142143310
|
0.00046
|
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg)
|
rs200843771
|
0.00046
|
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro)
|
rs201826872
|
0.00046
|
NM_022114.4(PRDM16):c.3110-4G>A
|
rs201495178
|
0.00046
|
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe)
|
rs144152046
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
NM_144672.4(OTOA):c.120+10C>G
|
rs200215069
|
0.00046
|
NM_153676.4(USH1C):c.648G>A (p.Leu216=)
|
rs77137413
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)
|
rs200241993
|
0.00045
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_000514.4(GDNF):c.*5G>A
|
rs145996577
|
0.00045
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=)
|
rs186498011
|
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.10922T>C (p.Ile3641Thr)
|
rs141027782
|
0.00045
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His)
|
rs55677134
|
0.00045
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
NM_001292063.2(OTOG):c.94+75G>T
|
rs550807341
|
0.00045
|
NM_001371333.1(DIABLO):c.316-8A>G
|
rs137928955
|
0.00045
|
NM_001378609.3(OTOGL):c.4146C>A (p.Pro1382=)
|
rs374853700
|
0.00045
|
NM_001378609.3(OTOGL):c.4279+12C>T
|
rs200115208
|
0.00045
|
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)
|
rs146796009
|
0.00045
|
NM_002471.4(MYH6):c.1141+8G>T
|
rs377327277
|
0.00045
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile)
|
rs141011840
|
0.00045
|
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln)
|
rs139193948
|
0.00045
|
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=)
|
rs183834387
|
0.00045
|
NM_016239.4(MYO15A):c.915C>T (p.Tyr305=)
|
rs200695102
|
0.00045
|
NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu)
|
rs370046582
|
0.00045
|
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)
|
rs111033522
|
0.00045
|
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln)
|
rs199514829
|
0.00045
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)
|
rs141140798
|
0.00045
|
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val)
|
rs144226338
|
0.00045
|
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala)
|
rs145183384
|
0.00045
|
NM_144573.4(NEXN):c.732C>A (p.Pro244=)
|
rs201171783
|
0.00045
|
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)
|
rs199904558
|
0.00045
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)
|
rs137868043
|
0.00045
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
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_001105206.3(LAMA4):c.641G>A (p.Arg214His)
|
rs139146419
|
0.00044
|
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)
|
rs199643269
|
0.00044
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)
|
rs56398525
|
0.00044
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
NM_002700.3(POU4F3):c.230A>G (p.Asp77Gly)
|
rs138310635
|
0.00044
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_004817.4(TJP2):c.2880+19C>T
|
rs200384355
|
0.00044
|
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val)
|
rs147630977
|
0.00044
|
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=)
|
rs35541310
|
0.00044
|
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)
|
rs202101019
|
0.00044
|
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile)
|
rs201364852
|
0.00044
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)
|
rs41293104
|
0.00044
|
NM_080680.3(COL11A2):c.480T>G (p.Ser160=)
|
rs142969513
|
0.00044
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00044
|
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys)
|
rs147070644
|
0.00044
|
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=)
|
rs191358470
|
0.00044
|
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)
|
rs141813907
|
0.00043
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=)
|
rs200162906
|
0.00043
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412
|
0.00043
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=)
|
rs138870926
|
0.00043
|
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser)
|
rs145301300
|
0.00043
|
NM_001122659.3(EDNRB):c.-26G>A
|
rs2070591
|
0.00043
|
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)
|
rs138980048
|
0.00043
|
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=)
|
rs375811590
|
0.00043
|
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)
|
rs367732133
|
0.00043
|
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His)
|
rs200204761
|
0.00043
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00043
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=)
|
rs149481989
|
0.00043
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu)
|
rs201398260
|
0.00043
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
NM_144991.3(TSPEAR):c.791-14G>C
|
rs199699551
|
0.00043
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_000256.3(MYBPC3):c.926+8C>T
|
rs377595584
|
0.00042
|
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)
|
rs200285003
|
0.00042
|
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)
|
rs142482143
|
0.00042
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
0.00042
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
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.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp)
|
rs144009842
|
0.00042
|
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val)
|
rs144492050
|
0.00042
|
NM_016239.4(MYO15A):c.9792G>A (p.Gln3264=)
|
rs149189607
|
0.00042
|
NM_133379.5(TTN):c.10617T>C (p.His3539=)
|
rs200284932
|
0.00042
|
NM_133379.5(TTN):c.14616C>T (p.Ser4872=)
|
rs148105798
|
0.00042
|
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)
|
rs72648909
|
0.00042
|
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr)
|
rs148967240
|
0.00042
|
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
|
rs146333270
|
0.00042
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)
|
rs189991547
|
0.00041
|
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu)
|
rs199473320
|
0.00041
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu)
|
rs144038296
|
0.00041
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser)
|
rs35874056
|
0.00041
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
NM_001267550.2(TTN):c.30433+11T>G
|
rs199848546
|
0.00041
|
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)
|
rs374281025
|
0.00041
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)
|
rs201482015
|
0.00041
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=)
|
rs186402008
|
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.93367G>C (p.Val31123Leu)
|
rs202096200
|
0.00041
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg)
|
rs139511903
|
0.00041
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
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_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
NM_004700.4(KCNQ4):c.946-12C>G
|
rs146802754
|
0.00041
|
NM_004817.4(TJP2):c.918C>T (p.Ile306=)
|
rs374523970
|
0.00041
|
NM_006005.3(WFS1):c.2202C>T (p.Leu734=)
|
rs140427062
|
0.00041
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val)
|
rs56261037
|
0.00041
|
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=)
|
rs370184182
|
0.00041
|
NM_024334.3(TMEM43):c.45C>A (p.Val15=)
|
rs150334659
|
0.00041
|
NM_024747.6(HPS6):c.2250G>A (p.Ser750=)
|
rs139161525
|
0.00041
|
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg)
|
rs200273207
|
0.00041
|
NM_178452.6(DNAAF1):c.1698+1G>A
|
rs139519641
|
0.00041
|
NM_206933.4(USH2A):c.10470G>T (p.Val3490=)
|
rs201401001
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
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_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe)
|
rs183262122
|
0.00040
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp)
|
rs200215464
|
0.00040
|
NM_001368067.1(LDB3):c.771G>A (p.Thr257=)
|
rs144445130
|
0.00040
|
NM_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00040
|
NM_005159.5(ACTC1):c.219C>T (p.Ile73=)
|
rs376566924
|
0.00040
|
NM_006005.3(WFS1):c.402G>A (p.Ala134=)
|
rs199533137
|
0.00040
|
NM_007078.3(LDB3):c.-15G>A
|
rs201865389
|
0.00040
|
NM_057176.3(BSND):c.597T>C (p.Asp199=)
|
rs200886926
|
0.00040
|
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=)
|
rs139525746
|
0.00040
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
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_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=)
|
rs371931287
|
0.00039
|
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)
|
rs150084275
|
0.00039
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
NM_001145809.2(MYH14):c.5778C>T (p.Leu1926=)
|
rs201839634
|
0.00039
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00039
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00039
|
NM_001267550.2(TTN):c.32197+11G>A
|
rs369265969
|
0.00039
|
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)
|
rs367622770
|
0.00039
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_002473.6(MYH9):c.769+15C>T
|
rs201691359
|
0.00039
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
NM_004415.4(DSP):c.4500G>T (p.Leu1500=)
|
rs372881903
|
0.00039
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr)
|
rs182072601
|
0.00039
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
NM_020297.4(ABCC9):c.3030T>C (p.Ala1010=)
|
rs76102634
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=)
|
rs150691499
|
0.00039
|
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_000218.3(KCNQ1):c.1860C>T (p.His620=)
|
rs139893266
|
0.00038
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)
|
rs370338674
|
0.00038
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
NM_001032283.3(TMPO):c.565+1105C>T
|
rs138790561
|
0.00038
|
NM_001035.3(RYR2):c.11246-11del
|
rs397516503
|
0.00038
|
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=)
|
rs397516505
|
0.00038
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser)
|
rs145522874
|
0.00038
|
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu)
|
rs141181035
|
0.00038
|
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)
|
rs201374999
|
0.00038
|
NM_001267550.2(TTN):c.180T>C (p.Asp60=)
|
rs144750850
|
0.00038
|
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)
|
rs199525540
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=)
|
rs12615797
|
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_004006.3(DMD):c.5181A>T (p.Ile1727=)
|
rs200887855
|
0.00038
|
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)
|
rs143919208
|
0.00038
|
NM_004415.4(DSP):c.688G>A (p.Asp230Asn)
|
rs147315869
|
0.00038
|
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=)
|
rs150096625
|
0.00038
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)
|
rs202106463
|
0.00038
|
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val)
|
rs145160241
|
0.00038
|
NM_178335.3(CCDC50):c.1429+5G>A
|
rs375535283
|
0.00038
|
NM_194248.3(OTOF):c.2215-155A>G
|
rs143933877
|
0.00038
|
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu)
|
rs141972928
|
0.00038
|
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)
|
rs147091980
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)
|
rs201905280
|
0.00037
|
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
|
rs142896669
|
0.00037
|
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser)
|
rs139380111
|
0.00037
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn)
|
rs144880521
|
0.00037
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)
|
rs144415484
|
0.00037
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala)
|
rs138955440
|
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_032578.4(MYPN):c.1662A>C (p.Ala554=)
|
rs71584488
|
0.00037
|
NM_033118.4(MYLK2):c.783G>A (p.Pro261=)
|
rs144621796
|
0.00037
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met)
|
rs143709408
|
0.00036
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
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_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
0.00036
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413
|
0.00036
|
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile)
|
rs200359303
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)
|
rs201724032
|
0.00036
|
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
|
rs121918282
|
0.00036
|
NM_001103.4(ACTN2):c.1975-12C>T
|
rs371352710
|
0.00036
|
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)
|
rs199971778
|
0.00036
|
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His)
|
rs115066564
|
0.00036
|
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr)
|
rs144474773
|
0.00036
|
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)
|
rs371951525
|
0.00036
|
NM_001145809.2(MYH14):c.1115-4C>T
|
rs142696359
|
0.00036
|
NM_001145809.2(MYH14):c.4753-5A>G
|
rs118097099
|
0.00036
|
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)
|
rs190421400
|
0.00036
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
NM_001393500.2(TOMT):c.596C>T (p.Ala199Val)
|
rs540371915
|
0.00036
|
NM_002230.4(JUP):c.633C>T (p.Asn211=)
|
rs372145644
|
0.00036
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
|
rs117671123
|
0.00036
|
NM_004568.6(SERPINB6):c.996C>T (p.Ala332=)
|
rs147792064
|
0.00036
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
NM_005188.4(CBL):c.12C>T (p.Asn4=)
|
rs371567712
|
0.00036
|
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)
|
rs199749212
|
0.00036
|
NM_006073.4(TRDN):c.1472-12G>A
|
rs375364108
|
0.00036
|
NM_006393.3(NEBL):c.1962+7A>G
|
rs371630900
|
0.00036
|
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro)
|
rs143764931
|
0.00036
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)
|
rs201953758
|
0.00036
|
NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln)
|
rs200456053
|
0.00036
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
NM_016239.4(MYO15A):c.6743C>T (p.Ala2248Val)
|
rs199831544
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)
|
rs376636949
|
0.00036
|
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=)
|
rs75019370
|
0.00036
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu)
|
rs555936333
|
0.00036
|
NM_133379.5(TTN):c.10646G>A (p.Arg3549His)
|
rs148115514
|
0.00036
|
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met)
|
rs200191563
|
0.00036
|
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp)
|
rs373680242
|
0.00036
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
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_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
NM_000260.4(MYO7A):c.849+7C>G
|
rs370740228
|
0.00035
|
NM_000503.6(EYA1):c.35G>A (p.Arg12His)
|
rs74720958
|
0.00035
|
NM_001039141.3(TRIOBP):c.4329A>G (p.Leu1443=)
|
rs547759535
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=)
|
rs141926228
|
0.00035
|
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)
|
rs199874790
|
0.00035
|
NM_001199107.2(TBC1D24):c.1143-15G>A
|
rs371213803
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile)
|
rs545321215
|
0.00035
|
NM_004006.3(DMD):c.1095A>C (p.Gln365His)
|
rs1800266
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_006393.3(NEBL):c.2148+4T>C
|
rs193163659
|
0.00035
|
NM_015404.4(WHRN):c.1887G>A (p.Pro629=)
|
rs143443833
|
0.00035
|
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser)
|
rs200562747
|
0.00035
|
NM_022124.6(CDH23):c.6809G>A (p.Arg2270His)
|
rs139409005
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)
|
rs372065024
|
0.00035
|
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr)
|
rs144594692
|
0.00035
|
NM_207034.3(EDN3):c.426G>A (p.Ala142=)
|
rs187049336
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
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.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00034
|
NM_000260.4(MYO7A):c.5169-5G>A
|
rs727505232
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=)
|
rs376826051
|
0.00034
|
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)
|
rs192301957
|
0.00034
|
NM_000441.1(SLC26A4):c.-60A>G
|
rs545973091
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=)
|
rs142362933
|
0.00034
|
NM_001034853.2(RPGR):c.141T>G (p.Ser47=)
|
rs62638631
|
0.00034
|
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys)
|
rs201117318
|
0.00034
|
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=)
|
rs41276445
|
0.00034
|
NM_001145809.2(MYH14):c.5960+8C>T
|
rs373176553
|
0.00034
|
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)
|
rs369933152
|
0.00034
|
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu)
|
rs373065549
|
0.00034
|
NM_001267550.2(TTN):c.53287+6G>A
|
rs149890360
|
0.00034
|
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00034
|
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)
|
rs199512049
|
0.00034
|
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)
|
rs202132383
|
0.00034
|
NM_002524.5(NRAS):c.360G>A (p.Leu120=)
|
rs143020946
|
0.00034
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)
|
rs138145424
|
0.00034
|
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)
|
rs199761505
|
0.00034
|
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)
|
rs200092283
|
0.00034
|
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)
|
rs201540919
|
0.00034
|
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)
|
rs200662973
|
0.00034
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_020433.5(JPH2):c.780C>T (p.Ala260=)
|
rs199840543
|
0.00034
|
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)
|
rs374156784
|
0.00034
|
NM_024009.3(GJB3):c.-4C>T
|
rs200902087
|
0.00034
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=)
|
rs146618055
|
0.00034
|
NM_032119.4(ADGRV1):c.11562C>T (p.Ala3854=)
|
rs182115637
|
0.00034
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
NM_057176.3(BSND):c.309G>C (p.Glu103Asp)
|
rs200246335
|
0.00034
|
NM_133379.5(TTN):c.15193C>T (p.Pro5065Ser)
|
rs200953966
|
0.00034
|
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys)
|
rs62179016
|
0.00034
|
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp)
|
rs147904376
|
0.00034
|
NM_194248.3(OTOF):c.2507G>A (p.Arg836His)
|
rs200670445
|
0.00034
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser)
|
rs547173007
|
0.00033
|
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
|
rs141355480
|
0.00033
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser)
|
rs138843691
|
0.00033
|
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)
|
rs144274136
|
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_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)
|
rs146693681
|
0.00033
|
NM_020433.5(JPH2):c.1107T>C (p.Ser369=)
|
rs148311735
|
0.00033
|
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser)
|
rs200496467
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
NM_000138.5(FBN1):c.5788+10C>A
|
rs371560107
|
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.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00032
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
NM_000432.4(MYL2):c.342G>A (p.Leu114=)
|
rs199572927
|
0.00032
|
NM_000503.6(EYA1):c.966+4C>T
|
rs139429307
|
0.00032
|
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)
|
rs147245615
|
0.00032
|
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter)
|
rs200758965
|
0.00032
|
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)
|
rs193212275
|
0.00032
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_001267550.2(TTN):c.39128-14T>C
|
rs200916144
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=)
|
rs138313387
|
0.00032
|
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=)
|
rs545896255
|
0.00032
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_002473.6(MYH9):c.1491C>T (p.Ile497=)
|
rs146487404
|
0.00032
|
NM_002473.6(MYH9):c.3943-7C>A
|
rs376396278
|
0.00032
|
NM_002473.6(MYH9):c.4831G>A (p.Ala1611Thr)
|
rs150029980
|
0.00032
|
NM_003242.6(TGFBR2):c.1525-7G>A
|
rs377499122
|
0.00032
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His)
|
rs144343770
|
0.00032
|
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg)
|
rs141233896
|
0.00032
|
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)
|
rs200697103
|
0.00032
|
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala)
|
rs368760461
|
0.00032
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=)
|
rs202066007
|
0.00032
|
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr)
|
rs144915302
|
0.00032
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
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_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00031
|
NM_000335.5(SCN5A):c.456C>T (p.Asp152=)
|
rs190803993
|
0.00031
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
NM_001035.3(RYR2):c.774-14G>T
|
rs370114411
|
0.00031
|
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser)
|
rs191901426
|
0.00031
|
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=)
|
rs373050209
|
0.00031
|
NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp)
|
rs146399987
|
0.00031
|
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)
|
rs200226466
|
0.00031
|
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)
|
rs148824162
|
0.00031
|
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)
|
rs117287351
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp)
|
rs375944265
|
0.00031
|
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)
|
rs185620750
|
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_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
NM_001276345.2(TNNT2):c.720-13_720-11del
|
rs397516480
|
0.00031
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
NM_001369.3(DNAH5):c.11570+8T>C
|
rs369789559
|
0.00031
|
NM_002471.4(MYH6):c.4359+5A>G
|
rs193283041
|
0.00031
|
NM_002471.4(MYH6):c.4359+8A>C
|
rs188675676
|
0.00031
|
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)
|
rs150450178
|
0.00031
|
NM_002473.6(MYH9):c.2500-14A>G
|
rs199505086
|
0.00031
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_004985.5(KRAS):c.451-5565G>A
|
rs200970347
|
0.00031
|
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His)
|
rs147890616
|
0.00031
|
NM_005982.4(SIX1):c.162G>A (p.Ala54=)
|
rs150550985
|
0.00031
|
NM_006005.3(WFS1):c.594G>A (p.Ala198=)
|
rs563931269
|
0.00031
|
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)
|
rs145677667
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_014000.3(VCL):c.1626C>T (p.Leu542=)
|
rs150402791
|
0.00031
|
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
|
rs142951316
|
0.00031
|
NM_014908.4(DOLK):c.1394G>A (p.Arg465His)
|
rs148930043
|
0.00031
|
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=)
|
rs74067815
|
0.00031
|
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=)
|
rs138280089
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr)
|
rs375918283
|
0.00031
|
NM_024334.3(TMEM43):c.442+7G>A
|
rs373590238
|
0.00031
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
NM_133261.3(GIPC3):c.20G>A (p.Arg7Gln)
|
rs998073430
|
0.00031
|
NM_133261.3(GIPC3):c.440G>A (p.Arg147Gln)
|
rs141293401
|
0.00031
|
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)
|
rs142371860
|
0.00031
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
0.00031
|
NM_194248.3(OTOF):c.4023+1G>A
|
rs186810296
|
0.00031
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_207034.3(EDN3):c.208G>A (p.Ala70Thr)
|
rs369429604
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000256.3(MYBPC3):c.772+10C>T
|
rs375525278
|
0.00030
|
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=)
|
rs144420313
|
0.00030
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00030
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
|
rs397516423
|
0.00030
|
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)
|
rs200664061
|
0.00030
|
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)
|
rs55821172
|
0.00030
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00030
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
0.00030
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)
|
rs199875474
|
0.00030
|
NM_001267550.2(TTN):c.94863C>T (p.His31621=)
|
rs373871146
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
NM_002471.4(MYH6):c.4611G>A (p.Val1537=)
|
rs142983918
|
0.00030
|
NM_003280.3(TNNC1):c.108C>A (p.Ile36=)
|
rs202000367
|
0.00030
|
NM_004333.6(BRAF):c.2235A>G (p.Leu745=)
|
rs56046546
|
0.00030
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_015340.4(LARS2):c.1622+8G>A
|
rs202009605
|
0.00030
|
NM_022124.6(CDH23):c.2171G>A (p.Arg724His)
|
rs374955091
|
0.00030
|
NM_030662.4(MAP2K2):c.303+12G>A
|
rs376432107
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
|
rs397516327
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_001018005.2(TPM1):c.375-5T>C
|
rs377061868
|
0.00029
|
NM_001018005.2(TPM1):c.563+313A>G
|
rs144700226
|
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_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
|
rs147205617
|
0.00029
|
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln)
|
rs151138158
|
0.00029
|
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys)
|
rs187789045
|
0.00029
|
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His)
|
rs138946894
|
0.00029
|
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)
|
rs200237973
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
NM_001267550.2(TTN):c.4645+8G>T
|
rs144456585
|
0.00029
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)
|
rs375204371
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001376256.1(CRYM):c.108C>A (p.Ser36Arg)
|
rs147233841
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_001614.5(ACTG1):c.126C>T (p.Gly42=)
|
rs11549197
|
0.00029
|
NM_002230.4(JUP):c.459C>T (p.Asp153=)
|
rs376289528
|
0.00029
|
NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile)
|
rs201016285
|
0.00029
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00029
|
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val)
|
rs144080051
|
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_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)
|
rs138768918
|
0.00029
|
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)
|
rs148028521
|
0.00029
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
NM_006005.3(WFS1):c.325C>T (p.His109Tyr)
|
rs112871383
|
0.00029
|
NM_007078.3(LDB3):c.1035C>T (p.Ile345=)
|
rs121908336
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_014000.3(VCL):c.366G>A (p.Leu122=)
|
rs199562976
|
0.00029
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp)
|
rs138121304
|
0.00029
|
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His)
|
rs201794696
|
0.00029
|
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)
|
rs202039728
|
0.00029
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=)
|
rs145561881
|
0.00029
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00029
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=)
|
rs150833333
|
0.00029
|
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=)
|
rs117641264
|
0.00029
|
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)
|
rs373352597
|
0.00029
|
NM_080680.3(COL11A2):c.1875C>T (p.Gly625=)
|
rs141815296
|
0.00029
|
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser)
|
rs72647902
|
0.00029
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00029
|
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)
|
rs199738750
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00029
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)
|
rs199473669
|
0.00028
|
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=)
|
rs370945942
|
0.00028
|
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=)
|
rs373656667
|
0.00028
|
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)
|
rs372768607
|
0.00028
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=)
|
rs368119524
|
0.00028
|
NM_001039876.3(SYNE4):c.638C>T (p.Thr213Met)
|
rs199916743
|
0.00028
|
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His)
|
rs140346737
|
0.00028
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
NM_001199799.2(ILDR1):c.1159T>C (p.Ser387Pro)
|
rs150250182
|
0.00028
|
NM_001232.4(CASQ2):c.861C>A (p.Ile287=)
|
rs143718767
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)
|
rs373223049
|
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.40903G>A (p.Ala13635Thr)
|
rs191699632
|
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.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
NM_001267550.2(TTN):c.75762G>T (p.Val25254=)
|
rs374003257
|
0.00028
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=)
|
rs114557260
|
0.00028
|
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln)
|
rs142009291
|
0.00028
|
NM_002294.3(LAMP2):c.-10C>T
|
rs201209341
|
0.00028
|
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val)
|
rs75487328
|
0.00028
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
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_006005.3(WFS1):c.41A>G (p.Gln14Arg)
|
rs142651446
|
0.00028
|
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn)
|
rs368603235
|
0.00028
|
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=)
|
rs11000008
|
0.00028
|
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)
|
rs376881824
|
0.00028
|
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=)
|
rs146884759
|
0.00028
|
NM_144498.4(OSBPL2):c.1250-3del
|
rs781009740
|
0.00028
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000260.4(MYO7A):c.758A>G (p.His253Arg)
|
rs375200566
|
0.00027
|
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)
|
rs200248944
|
0.00027
|
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=)
|
rs143587921
|
0.00027
|
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)
|
rs200424400
|
0.00027
|
NM_001267550.2(TTN):c.33172+4G>A
|
rs756475184
|
0.00027
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln)
|
rs147254212
|
0.00027
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)
|
rs375538420
|
0.00027
|
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)
|
rs201958805
|
0.00027
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
|
rs145508517
|
0.00027
|
NM_002834.3(PTPN11):c.*13A>G
|
rs201957261
|
0.00027
|
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile)
|
rs201610096
|
0.00027
|
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser)
|
rs201876362
|
0.00027
|
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg)
|
rs200212083
|
0.00027
|
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile)
|
rs373954823
|
0.00027
|
NM_144672.4(OTOA):c.921G>A (p.Ala307=)
|
rs12051473
|
0.00027
|
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)
|
rs139455627
|
0.00027
|
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=)
|
rs149566576
|
0.00027
|
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)
|
rs147920229
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_001103.4(ACTN2):c.1406+8C>T
|
rs397516567
|
0.00026
|
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)
|
rs149433837
|
0.00026
|
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp)
|
rs186968009
|
0.00026
|
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=)
|
rs377697825
|
0.00026
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)
|
rs201298767
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)
|
rs199557654
|
0.00026
|
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)
|
rs368781863
|
0.00026
|
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)
|
rs150667217
|
0.00026
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)
|
rs367603302
|
0.00026
|
NM_001267550.2(TTN):c.57263-4C>T
|
rs373552048
|
0.00026
|
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)
|
rs201662134
|
0.00026
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)
|
rs371884545
|
0.00026
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
0.00026
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)
|
rs201400267
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)
|
rs374081262
|
0.00026
|
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)
|
rs201137087
|
0.00026
|
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg)
|
rs186138859
|
0.00026
|
NM_002230.4(JUP):c.486G>A (p.Ala162=)
|
rs113317262
|
0.00026
|
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala)
|
rs139633545
|
0.00026
|
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153
|
0.00026
|
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
|
rs201787206
|
0.00026
|
NM_003001.5(SDHC):c.405+23C>T
|
rs373731336
|
0.00026
|
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)
|
rs201341211
|
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_004999.4(MYO6):c.475G>A (p.Glu159Lys)
|
rs201507590
|
0.00026
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
NM_005422.4(TECTA):c.327C>T (p.Gly109=)
|
rs727504830
|
0.00026
|
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile)
|
rs202199158
|
0.00026
|
NM_006941.4(SOX10):c.428+10C>G
|
rs201638602
|
0.00026
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
0.00026
|
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
|
rs45577134
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_013314.4(BLNK):c.115C>T (p.Leu39=)
|
rs34135972
|
0.00026
|
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln)
|
rs199783506
|
0.00026
|
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His)
|
rs199621031
|
0.00026
|
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr)
|
rs142823078
|
0.00026
|
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro)
|
rs149521185
|
0.00026
|
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)
|
rs199614124
|
0.00026
|
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)
|
rs199508694
|
0.00026
|
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=)
|
rs140255091
|
0.00026
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)
|
rs200874968
|
0.00026
|
NM_032119.4(ADGRV1):c.3741G>A (p.Glu1247=)
|
rs371571867
|
0.00026
|
NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys)
|
rs201210744
|
0.00026
|
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln)
|
rs35765893
|
0.00026
|
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=)
|
rs34478777
|
0.00026
|
NM_080680.3(COL11A2):c.5071-5T>G
|
rs368309085
|
0.00026
|
NM_144672.4(OTOA):c.739+11A>G
|
rs186092865
|
0.00026
|
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu)
|
rs189895472
|
0.00026
|
NM_152594.3(SPRED1):c.377-10A>G
|
rs376134678
|
0.00026
|
NM_181458.4(PAX3):c.126C>A (p.Gly42=)
|
rs369680052
|
0.00026
|
NM_194248.3(OTOF):c.154G>A (p.Val52Met)
|
rs199992845
|
0.00026
|
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe)
|
rs145638628
|
0.00026
|
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)
|
rs138326802
|
0.00026
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)
|
rs150280500
|
0.00026
|
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)
|
rs141539554
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile)
|
rs376504548
|
0.00025
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_000432.4(MYL2):c.275-14G>C
|
rs375703502
|
0.00025
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
NM_001039213.4(CEACAM16):c.116T>A (p.Leu39Gln)
|
rs375722926
|
0.00025
|
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)
|
rs139515659
|
0.00025
|
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=)
|
rs150463212
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=)
|
rs368984050
|
0.00025
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=)
|
rs528832388
|
0.00025
|
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)
|
rs368502650
|
0.00025
|
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)
|
rs148434577
|
0.00025
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00025
|
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp)
|
rs201183725
|
0.00025
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)
|
rs34292387
|
0.00025
|
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=)
|
rs377720622
|
0.00025
|
NM_002880.4(RAF1):c.909A>C (p.Thr303=)
|
rs5746219
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)
|
rs397507456
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_007078.3(LDB3):c.1971C>T (p.Cys657=)
|
rs140552419
|
0.00025
|
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)
|
rs144146254
|
0.00025
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
NM_016929.5(CLIC5):c.491C>G (p.Thr164Ser)
|
rs201781198
|
0.00025
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His)
|
rs201067092
|
0.00025
|
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
|
rs111033493
|
0.00025
|
NM_022124.6(CDH23):c.9438G>A (p.Ala3146=)
|
rs200572025
|
0.00025
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)
|
rs143632883
|
0.00025
|
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)
|
rs201583659
|
0.00025
|
NM_133379.5(TTN):c.11283G>C (p.Lys3761Asn)
|
rs200816462
|
0.00025
|
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val)
|
rs72647901
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)
|
rs148498577
|
0.00024
|
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys)
|
rs149470089
|
0.00024
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg)
|
rs77585883
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=)
|
rs146353237
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)
|
rs79406408
|
0.00024
|
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)
|
rs75948012
|
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_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu)
|
rs200797401
|
0.00024
|
NM_001384474.1(LOXHD1):c.2580G>A (p.Ala860=)
|
rs118140267
|
0.00024
|
NM_002294.3(LAMP2):c.741+11C>T
|
rs149155417
|
0.00024
|
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)
|
rs148656020
|
0.00024
|
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00024
|
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln)
|
rs147050513
|
0.00024
|
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys)
|
rs117749531
|
0.00024
|
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu)
|
rs199892018
|
0.00024
|
NM_005379.4(MYO1A):c.1667C>T (p.Ser556Phe)
|
rs571906190
|
0.00024
|
NM_005422.4(TECTA):c.1461A>G (p.Gly487=)
|
rs202127508
|
0.00024
|
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile)
|
rs377156351
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_015404.4(WHRN):c.1608C>G (p.Thr536=)
|
rs139337135
|
0.00024
|
NM_016239.4(MYO15A):c.10076C>T (p.Pro3359Leu)
|
rs201763265
|
0.00024
|
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val)
|
rs200249886
|
0.00024
|
NM_016239.4(MYO15A):c.4142+6T>C
|
rs368090576
|
0.00024
|
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=)
|
rs145688699
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)
|
rs116911972
|
0.00024
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=)
|
rs144850779
|
0.00024
|
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=)
|
rs41306255
|
0.00024
|
NM_080680.3(COL11A2):c.1819-10G>A
|
rs3129202
|
0.00024
|
NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly)
|
rs142973956
|
0.00024
|
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr)
|
rs143628723
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00023
|
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile)
|
rs369539923
|
0.00023
|
NM_000260.4(MYO7A):c.514C>T (p.Leu172=)
|
rs368246776
|
0.00023
|
NM_001005242.3(PKP2):c.1379-2025G>A
|
rs537458442
|
0.00023
|
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=)
|
rs143592561
|
0.00023
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys)
|
rs201810836
|
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_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro)
|
rs778687487
|
0.00023
|
NM_001614.5(ACTG1):c.546C>T (p.Gly182=)
|
rs61997063
|
0.00023
|
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr)
|
rs527738649
|
0.00023
|
NM_002230.4(JUP):c.546G>A (p.Ser182=)
|
rs202038498
|
0.00023
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
NM_005219.5(DIAPH1):c.685-5A>G
|
rs367786290
|
0.00023
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)
|
rs146592584
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_014391.3(ANKRD1):c.652-10A>T
|
rs397517252
|
0.00023
|
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln)
|
rs138437422
|
0.00023
|
NM_016203.4(PRKAG2):c.1585-4G>A
|
rs373649956
|
0.00023
|
NM_016239.4(MYO15A):c.3591G>A (p.Pro1197=)
|
rs200222411
|
0.00023
|
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=)
|
rs140182559
|
0.00023
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)
|
rs181275139
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=)
|
rs369603764
|
0.00023
|
NM_144573.4(NEXN):c.1029G>A (p.Ala343=)
|
rs374260457
|
0.00023
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
NM_000432.4(MYL2):c.353+12C>A
|
rs186323458
|
0.00022
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr)
|
rs199853331
|
0.00022
|
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=)
|
rs149106800
|
0.00022
|
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)
|
rs183336802
|
0.00022
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=)
|
rs192857526
|
0.00022
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile)
|
rs367854582
|
0.00022
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_001286445.3(RIPOR2):c.1130C>T (p.Pro377Leu)
|
rs201901775
|
0.00022
|
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)
|
rs145325518
|
0.00022
|
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp)
|
rs375624435
|
0.00022
|
NM_001371333.1(DIABLO):c.-11C>T
|
rs376530914
|
0.00022
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn)
|
rs201344770
|
0.00022
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys)
|
rs201193346
|
0.00022
|
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=)
|
rs372158844
|
0.00022
|
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)
|
rs199936506
|
0.00022
|
NM_002473.6(MYH9):c.2061C>T (p.Leu687=)
|
rs143801000
|
0.00022
|
NM_004086.3(COCH):c.22G>A (p.Ala8Thr)
|
rs200935305
|
0.00022
|
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)
|
rs148176750
|
0.00022
|
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=)
|
rs145023222
|
0.00022
|
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met)
|
rs139158022
|
0.00022
|
NM_005422.4(TECTA):c.2886C>T (p.Ser962=)
|
rs138065050
|
0.00022
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
NM_006393.3(NEBL):c.1449+14G>A
|
rs373699154
|
0.00022
|
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu)
|
rs143155251
|
0.00022
|
NM_017668.3(NDE1):c.948-3127C>T
|
rs181115969
|
0.00022
|
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)
|
rs369697366
|
0.00022
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)
|
rs375921325
|
0.00022
|
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln)
|
rs142157418
|
0.00022
|
NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys)
|
rs145460295
|
0.00022
|
NM_144672.4(OTOA):c.2019C>T (p.Asp673=)
|
rs147901051
|
0.00022
|
NM_170682.4(P2RX2):c.381+2T>C
|
rs200978001
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)
|
rs147374057
|
0.00022
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00021
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=)
|
rs372328054
|
0.00021
|
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)
|
rs201736972
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_000441.2(SLC26A4):c.1544+9C>T
|
rs368970459
|
0.00021
|
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)
|
rs371934474
|
0.00021
|
NM_001035.3(RYR2):c.1005+13A>G
|
rs552027921
|
0.00021
|
NM_001039141.3(TRIOBP):c.6007G>A (p.Gly2003Ser)
|
rs397516554
|
0.00021
|
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val)
|
rs199938988
|
0.00021
|
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)
|
rs150043310
|
0.00021
|
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=)
|
rs201129413
|
0.00021
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)
|
rs201263441
|
0.00021
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=)
|
rs72647883
|
0.00021
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
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_001378609.3(OTOGL):c.5069C>T (p.Pro1690Leu)
|
rs185895624
|
0.00021
|
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)
|
rs369039902
|
0.00021
|
NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=)
|
rs189561302
|
0.00021
|
NM_001614.5(ACTG1):c.345C>T (p.Asn115=)
|
rs149057480
|
0.00021
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
NM_003673.4(TCAP):c.458G>A (p.Arg153His)
|
rs149585781
|
0.00021
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_004568.6(SERPINB6):c.430+3G>A
|
rs201080069
|
0.00021
|
NM_004985.5(KRAS):c.264A>G (p.Lys88=)
|
rs370920665
|
0.00021
|
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro)
|
rs141616288
|
0.00021
|
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp)
|
rs144844263
|
0.00021
|
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser)
|
rs147974629
|
0.00021
|
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
|
rs145144527
|
0.00021
|
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val)
|
rs71530907
|
0.00021
|
NM_006393.3(NEBL):c.82-4A>G
|
rs368268112
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_014000.3(VCL):c.1788A>C (p.Ser596=)
|
rs199582103
|
0.00021
|
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=)
|
rs201026034
|
0.00021
|
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln)
|
rs761180573
|
0.00021
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_021167.5(GATAD1):c.276T>G (p.Ser92=)
|
rs143082866
|
0.00021
|
NM_021167.5(GATAD1):c.48G>A (p.Ser16=)
|
rs376686657
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
|
rs199894395
|
0.00021
|
NM_022124.6(CDH23):c.551G>A (p.Arg184His)
|
rs201132251
|
0.00021
|
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=)
|
rs141675061
|
0.00021
|
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln)
|
rs143535006
|
0.00021
|
NM_024422.6(DSC2):c.348A>G (p.Gln116=)
|
rs137941742
|
0.00021
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248
|
0.00021
|
NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu)
|
rs186975400
|
0.00021
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672
|
0.00021
|
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)
|
rs141254777
|
0.00021
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00021
|
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly)
|
rs111033396
|
0.00021
|
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met)
|
rs727503359
|
0.00021
|
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)
|
rs201710470
|
0.00021
|
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)
|
rs147930567
|
0.00021
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00020
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
NM_001039141.3(TRIOBP):c.4726C>T (p.Arg1576Cys)
|
rs200113910
|
0.00020
|
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)
|
rs142636150
|
0.00020
|
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)
|
rs397516733
|
0.00020
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)
|
rs200430493
|
0.00020
|
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=)
|
rs372740215
|
0.00020
|
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)
|
rs201029552
|
0.00020
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile)
|
rs367816473
|
0.00020
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys)
|
rs376870149
|
0.00020
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser)
|
rs188528174
|
0.00020
|
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)
|
rs111306070
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)
|
rs200705273
|
0.00020
|
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln)
|
rs200781310
|
0.00020
|
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln)
|
rs141903506
|
0.00020
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)
|
rs145903555
|
0.00020
|
NM_033118.4(MYLK2):c.972+14G>A
|
rs193922713
|
0.00020
|
NM_033337.3(CAV3):c.115-13G>C
|
rs368367319
|
0.00020
|
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser)
|
rs142132973
|
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_181458.4(PAX3):c.540C>G (p.Ser180Arg)
|
rs200679164
|
0.00020
|
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr)
|
rs145556189
|
0.00020
|
NM_206933.4(USH2A):c.10062G>C (p.Val3354=)
|
rs200172376
|
0.00020
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=)
|
rs376344765
|
0.00019
|
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=)
|
rs367927327
|
0.00019
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)
|
rs368716988
|
0.00019
|
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=)
|
rs727505004
|
0.00019
|
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys)
|
rs781922871
|
0.00019
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
NM_000337.6(SGCD):c.699+18C>G
|
rs180898690
|
0.00019
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00019
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095
|
0.00019
|
NM_001031679.3(MSRB3):c.531G>A (p.Pro177=)
|
rs148675122
|
0.00019
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe)
|
rs200382504
|
0.00019
|
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)
|
rs142746163
|
0.00019
|
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln)
|
rs201420077
|
0.00019
|
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)
|
rs371447978
|
0.00019
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)
|
rs376874956
|
0.00019
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
NM_001267550.2(TTN):c.39548-8A>G
|
rs369594816
|
0.00019
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=)
|
rs148210834
|
0.00019
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro)
|
rs876657936
|
0.00019
|
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=)
|
rs139751304
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
|
rs201327273
|
0.00019
|
NM_003280.3(TNNC1):c.324T>C (p.Ala108=)
|
rs145066209
|
0.00019
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)
|
rs764692193
|
0.00019
|
NM_004415.4(DSP):c.6351T>C (p.Asp2117=)
|
rs148743859
|
0.00019
|
NM_004415.4(DSP):c.8415C>T (p.Ala2805=)
|
rs377148997
|
0.00019
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
NM_004985.5(KRAS):c.451-5535A>C
|
rs201170656
|
0.00019
|
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)
|
rs146250423
|
0.00019
|
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)
|
rs138272051
|
0.00019
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00019
|
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala)
|
rs144951440
|
0.00019
|
NM_006393.3(NEBL):c.1728T>C (p.Asp576=)
|
rs1528182
|
0.00019
|
NM_006393.3(NEBL):c.369+5G>A
|
rs200249470
|
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_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val)
|
rs150266349
|
0.00019
|
NM_014908.4(DOLK):c.1437T>C (p.Ser479=)
|
rs574290806
|
0.00019
|
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)
|
rs201555289
|
0.00019
|
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)
|
rs397517263
|
0.00019
|
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His)
|
rs148993025
|
0.00019
|
NM_017668.3(NDE1):c.948-5740C>T
|
rs373378619
|
0.00019
|
NM_021116.4(ADCY1):c.1293C>T (p.Ala431=)
|
rs145659731
|
0.00019
|
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)
|
rs74315318
|
0.00019
|
NM_032119.4(ADGRV1):c.2734+8A>G
|
rs371906040
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)
|
rs146526977
|
0.00019
|
NM_033337.3(CAV3):c.306G>A (p.Ala102=)
|
rs149375325
|
0.00019
|
NM_080680.3(COL11A2):c.233-8G>T
|
rs375268140
|
0.00019
|
NM_133379.5(TTN):c.13614A>C (p.Gln4538His)
|
rs139344272
|
0.00019
|
NM_194248.3(OTOF):c.1506G>A (p.Ser502=)
|
rs199713499
|
0.00019
|
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu)
|
rs191568463
|
0.00019
|
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile)
|
rs199613764
|
0.00019
|
NM_194248.3(OTOF):c.5029G>A (p.Ala1677Thr)
|
rs372908847
|
0.00019
|
NM_194248.3(OTOF):c.5196C>T (p.Tyr1732=)
|
rs138681366
|
0.00019
|
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=)
|
rs111033353
|
0.00019
|
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His)
|
rs189729452
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000169.3(GLA):c.129C>T (p.Gly43=)
|
rs146177035
|
0.00018
|
NM_000218.3(KCNQ1):c.605-11G>A
|
rs200828849
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)
|
rs727505215
|
0.00018
|
NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val)
|
rs150773481
|
0.00018
|
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=)
|
rs368735897
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys)
|
rs201653851
|
0.00018
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_001267550.2(TTN):c.30511+3G>A
|
rs563582627
|
0.00018
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00018
|
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)
|
rs201991864
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)
|
rs371973579
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
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_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00018
|
NM_001692.4(ATP6V1B1):c.785+10C>T
|
rs76241121
|
0.00018
|
NM_002230.4(JUP):c.1377G>T (p.Leu459=)
|
rs147370522
|
0.00018
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
NM_002230.4(JUP):c.2031G>A (p.Pro677=)
|
rs188888662
|
0.00018
|
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=)
|
rs142539180
|
0.00018
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00018
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
NM_004568.6(SERPINB6):c.313-5C>G
|
rs370994947
|
0.00018
|
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val)
|
rs142480526
|
0.00018
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00018
|
NM_006005.3(WFS1):c.1923G>A (p.Thr641=)
|
rs139040290
|
0.00018
|
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)
|
rs147834269
|
0.00018
|
NM_006231.4(POLE):c.5636G>A (p.Arg1879His)
|
rs145621558
|
0.00018
|
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val)
|
rs141569007
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_022124.6(CDH23):c.3431-6A>T
|
rs377614198
|
0.00018
|
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)
|
rs146082509
|
0.00018
|
NM_080680.3(COL11A2):c.2017-5T>G
|
rs200523422
|
0.00018
|
NM_153676.4(USH1C):c.186T>C (p.Ile62=)
|
rs200239508
|
0.00018
|
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu)
|
rs200699092
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=)
|
rs369787754
|
0.00017
|
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln)
|
rs369678002
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_000384.3(APOB):c.13181T>C (p.Val4394Ala)
|
rs12720843
|
0.00017
|
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)
|
rs150946659
|
0.00017
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_001038603.3(MARVELD2):c.*2G>A
|
rs530892254
|
0.00017
|
NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly)
|
rs201008196
|
0.00017
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_001128840.3(CACNA1D):c.2406+5G>A
|
rs193270389
|
0.00017
|
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=)
|
rs147169370
|
0.00017
|
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)
|
rs373378672
|
0.00017
|
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)
|
rs146690035
|
0.00017
|
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=)
|
rs182355009
|
0.00017
|
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)
|
rs55734111
|
0.00017
|
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)
|
rs727504191
|
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_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
NM_001614.5(ACTG1):c.825C>T (p.His275=)
|
rs145303691
|
0.00017
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
NM_004999.4(MYO6):c.188-3T>C
|
rs373199401
|
0.00017
|
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=)
|
rs587781024
|
0.00017
|
NM_007078.3(LDB3):c.1858-10T>C
|
rs202208256
|
0.00017
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met)
|
rs142354133
|
0.00017
|
NM_020297.4(ABCC9):c.3096+13C>T
|
rs370712530
|
0.00017
|
NM_020297.4(ABCC9):c.4512+690C>T
|
rs397517191
|
0.00017
|
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)
|
rs376612687
|
0.00017
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
0.00017
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His)
|
rs200907244
|
0.00017
|
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)
|
rs201089046
|
0.00017
|
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=)
|
rs147993163
|
0.00017
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
NM_133379.5(TTN):c.15981G>A (p.Gln5327=)
|
rs186841908
|
0.00017
|
NM_138691.3(TMC1):c.2070G>A (p.Ala690=)
|
rs145757452
|
0.00017
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
NM_153700.2(STRC):c.2640G>T (p.Glu880Asp)
|
rs1342864499
|
0.00017
|
NM_173477.5(USH1G):c.756C>T (p.Asp252=)
|
rs146752863
|
0.00017
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)
|
rs376041792
|
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_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)
|
rs34993780
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)
|
rs373650093
|
0.00016
|
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn)
|
rs148716975
|
0.00016
|
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val)
|
rs375355193
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00016
|
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=)
|
rs369993514
|
0.00016
|
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)
|
rs374156904
|
0.00016
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)
|
rs367958537
|
0.00016
|
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)
|
rs550471556
|
0.00016
|
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)
|
rs543102139
|
0.00016
|
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln)
|
rs201825412
|
0.00016
|
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)
|
rs371538664
|
0.00016
|
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val)
|
rs182445366
|
0.00016
|
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)
|
rs370135374
|
0.00016
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)
|
rs200717463
|
0.00016
|
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His)
|
rs142129359
|
0.00016
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)
|
rs373727636
|
0.00016
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=)
|
rs375403439
|
0.00016
|
NM_001292063.2(OTOG):c.2294-6C>T
|
rs201721923
|
0.00016
|
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu)
|
rs542646349
|
0.00016
|
NM_001371333.1(DIABLO):c.179C>T (p.Ala60Val)
|
rs199898020
|
0.00016
|
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter)
|
rs368844341
|
0.00016
|
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)
|
rs111033449
|
0.00016
|
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=)
|
rs141737883
|
0.00016
|
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=)
|
rs397517443
|
0.00016
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
0.00016
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn)
|
rs138193963
|
0.00016
|
NM_002473.6(MYH9):c.4956C>T (p.Arg1652=)
|
rs148632964
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_002880.4(RAF1):c.576A>G (p.Gln192=)
|
rs148759910
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
|
rs201638005
|
0.00016
|
NM_004333.6(BRAF):c.483G>C (p.Leu161=)
|
rs61730029
|
0.00016
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=)
|
rs200062984
|
0.00016
|
NM_004985.5(KRAS):c.198A>G (p.Ala66=)
|
rs200229810
|
0.00016
|
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr)
|
rs148582008
|
0.00016
|
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)
|
rs150565592
|
0.00016
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)
|
rs727504636
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_006005.3(WFS1):c.825G>A (p.Ala275=)
|
rs566634291
|
0.00016
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
NM_007214.5(SEC63):c.340-8T>C
|
rs1569556
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_014000.3(VCL):c.1716T>G (p.Leu572=)
|
rs189781480
|
0.00016
|
NM_014000.3(VCL):c.1842G>A (p.Thr614=)
|
rs144117013
|
0.00016
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile)
|
rs113542001
|
0.00016
|
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=)
|
rs146942382
|
0.00016
|
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=)
|
rs145005748
|
0.00016
|
NM_020297.4(ABCC9):c.4512+765C>T
|
rs142875103
|
0.00016
|
NM_022124.6(CDH23):c.3580-13C>T
|
rs150894638
|
0.00016
|
NM_022124.6(CDH23):c.6050-10C>T
|
rs560760228
|
0.00016
|
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=)
|
rs369925884
|
0.00016
|
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val)
|
rs368795540
|
0.00016
|
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
|
rs1996552
|
0.00016
|
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)
|
rs115239207
|
0.00016
|
NM_032119.4(ADGRV1):c.14575G>A (p.Gly4859Ser)
|
rs747275713
|
0.00016
|
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=)
|
rs371091564
|
0.00016
|
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)
|
rs201800819
|
0.00016
|
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)
|
rs376797260
|
0.00016
|
NM_080680.3(COL11A2):c.4863+7G>A
|
rs200947059
|
0.00016
|
NM_138691.3(TMC1):c.822G>A (p.Pro274=)
|
rs370523728
|
0.00016
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
NM_152269.5(MTRFR):c.210del (p.Gly72fs)
|
rs576462794
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_174878.3(CLRN1):c.226T>C (p.Leu76=)
|
rs139829306
|
0.00016
|
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys)
|
rs150070091
|
0.00016
|
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=)
|
rs141082575
|
0.00016
|
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
|
rs142617606
|
0.00016
|
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=)
|
rs200247886
|
0.00016
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00016
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
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_000256.3(MYBPC3):c.1226+6T>C
|
rs397515892
|
0.00015
|
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met)
|
rs377163678
|
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_000260.4(MYO7A):c.4471G>A (p.Val1491Met)
|
rs369768947
|
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_000432.4(MYL2):c.243G>T (p.Val81=)
|
rs368851472
|
0.00015
|
NM_000601.6(HGF):c.471A>G (p.Pro157=)
|
rs142045938
|
0.00015
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
NM_001018005.2(TPM1):c.115-316G>A
|
rs397516491
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met)
|
rs201746408
|
0.00015
|
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=)
|
rs534463809
|
0.00015
|
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)
|
rs181679744
|
0.00015
|
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys)
|
rs190192954
|
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_001368067.1(LDB3):c.511G>A (p.Ala171Thr)
|
rs373632943
|
0.00015
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
0.00015
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
NM_002230.4(JUP):c.2086+13C>T
|
rs199935213
|
0.00015
|
NM_002294.3(LAMP2):c.1093+2450G>A
|
rs149783672
|
0.00015
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
NM_002473.6(MYH9):c.2295C>T (p.Ala765=)
|
rs150133983
|
0.00015
|
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys)
|
rs201415443
|
0.00015
|
NM_004006.3(DMD):c.32-14A>G
|
rs367757761
|
0.00015
|
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)
|
rs146999911
|
0.00015
|
NM_004568.6(SERPINB6):c.125A>C (p.Tyr42Ser)
|
rs147962494
|
0.00015
|
NM_004985.5(KRAS):c.-27C>T
|
rs587781013
|
0.00015
|
NM_005159.5(ACTC1):c.-22-15C>G
|
rs368171271
|
0.00015
|
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)
|
rs201433617
|
0.00015
|
NM_005422.4(TECTA):c.33C>A (p.Val11=)
|
rs140393508
|
0.00015
|
NM_006005.3(WFS1):c.2667G>A (p.Ala889=)
|
rs71526454
|
0.00015
|
NM_014476.6(PDLIM3):c.399-10A>G
|
rs199979457
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly)
|
rs199953758
|
0.00015
|
NM_022124.6(CDH23):c.4786C>T (p.Arg1596Cys)
|
rs372636295
|
0.00015
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
NM_024422.6(DSC2):c.2019C>T (p.Thr673=)
|
rs201469817
|
0.00015
|
NM_133379.5(TTN):c.12724A>G (p.Ser4242Gly)
|
rs541264551
|
0.00015
|
NM_194248.3(OTOF):c.4363-6G>A
|
rs199567872
|
0.00015
|
NM_194248.3(OTOF):c.446C>T (p.Thr149Met)
|
rs140454738
|
0.00015
|
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro)
|
rs145114473
|
0.00015
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
0.00015
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)
|
rs267607134
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=)
|
rs1805118
|
0.00014
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000256.3(MYBPC3):c.2149-5C>T
|
rs36211722
|
0.00014
|
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=)
|
rs532996422
|
0.00014
|
NM_000257.4(MYH7):c.957C>T (p.Thr319=)
|
rs368699342
|
0.00014
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
NM_000268.4(NF2):c.240+15C>T
|
rs200701337
|
0.00014
|
NM_000414.4(HSD17B4):c.1767+8T>C
|
rs190659146
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
NM_001018005.2(TPM1):c.114+14C>T
|
rs576659891
|
0.00014
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)
|
rs201287021
|
0.00014
|
NM_001103.4(ACTN2):c.615+15C>T
|
rs369293885
|
0.00014
|
NM_001105206.3(LAMA4):c.1326C>T (p.Leu442=)
|
rs3752580
|
0.00014
|
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=)
|
rs150809897
|
0.00014
|
NM_001105206.3(LAMA4):c.3558-7T>C
|
rs200864778
|
0.00014
|
NM_001127453.2(GSDME):c.1183+9A>T
|
rs397516910
|
0.00014
|
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=)
|
rs373851693
|
0.00014
|
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=)
|
rs193196995
|
0.00014
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00014
|
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr)
|
rs138001307
|
0.00014
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)
|
rs376371272
|
0.00014
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)
|
rs372802604
|
0.00014
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00014
|
NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn)
|
rs771843862
|
0.00014
|
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)
|
rs201081803
|
0.00014
|
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser)
|
rs374449452
|
0.00014
|
NM_001267550.2(TTN):c.44282-6G>A
|
rs372166634
|
0.00014
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00014
|
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)
|
rs397517627
|
0.00014
|
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met)
|
rs373527448
|
0.00014
|
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)
|
rs374656017
|
0.00014
|
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)
|
rs200471370
|
0.00014
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00014
|
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)
|
rs558830502
|
0.00014
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)
|
rs148067743
|
0.00014
|
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)
|
rs200843338
|
0.00014
|
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys)
|
rs201688358
|
0.00014
|
NM_001267550.2(TTN):c.87111G>A (p.Glu29037=)
|
rs374902148
|
0.00014
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)
|
rs374063064
|
0.00014
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00014
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001298.3(CNGA3):c.101+1G>A
|
rs147118493
|
0.00014
|
NM_001330.5(CTF1):c.*5C>A
|
rs397516644
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr)
|
rs78377084
|
0.00014
|
NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln)
|
rs188715129
|
0.00014
|
NM_001393500.2(TOMT):c.745A>C (p.Ile249Leu)
|
rs727503153
|
0.00014
|
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)
|
rs891844407
|
0.00014
|
NM_002230.4(JUP):c.708-4C>G
|
rs201313464
|
0.00014
|
NM_002230.4(JUP):c.801C>T (p.Ala267=)
|
rs138397457
|
0.00014
|
NM_002294.3(LAMP2):c.591G>A (p.Val197=)
|
rs201030806
|
0.00014
|
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser)
|
rs148962966
|
0.00014
|
NM_002471.4(MYH6):c.2429+14A>C
|
rs200817451
|
0.00014
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
|
rs141774369
|
0.00014
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)
|
rs151150099
|
0.00014
|
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val)
|
rs145266970
|
0.00014
|
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val)
|
rs146977269
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
NM_004463.3(FGD1):c.2581-6C>T
|
rs368589817
|
0.00014
|
NM_004985.5(KRAS):c.451-14T>C
|
rs372508498
|
0.00014
|
NM_004999.4(MYO6):c.2665A>G (p.Met889Val)
|
rs727505098
|
0.00014
|
NM_005379.4(MYO1A):c.2804T>C (p.Ile935Thr)
|
rs372760228
|
0.00014
|
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile)
|
rs201952240
|
0.00014
|
NM_005422.4(TECTA):c.6162C>T (p.Ile2054=)
|
rs140608882
|
0.00014
|
NM_005633.4(SOS1):c.1962G>A (p.Glu654=)
|
rs144382701
|
0.00014
|
NM_006005.3(WFS1):c.1399C>T (p.Leu467=)
|
rs142700542
|
0.00014
|
NM_006005.3(WFS1):c.2040G>A (p.Glu680=)
|
rs375263408
|
0.00014
|
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu)
|
rs55674815
|
0.00014
|
NM_006231.4(POLE):c.6004+5G>T
|
rs372169366
|
0.00014
|
NM_007078.3(LDB3):c.897-14T>C
|
rs763081924
|
0.00014
|
NM_015340.4(LARS2):c.1383T>C (p.Ile461=)
|
rs35347543
|
0.00014
|
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr)
|
rs201808265
|
0.00014
|
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr)
|
rs201541616
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_022114.4(PRDM16):c.1187-10G>C
|
rs201517837
|
0.00014
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00014
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr)
|
rs375641853
|
0.00014
|
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr)
|
rs369142200
|
0.00014
|
NM_030662.3(MAP2K2):c.*8C>T
|
rs377675706
|
0.00014
|
NM_030662.4(MAP2K2):c.529-12G>A
|
rs375701469
|
0.00014
|
NM_031475.3(ESPN):c.*6G>A
|
rs200806495
|
0.00014
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
NM_032119.4(ADGRV1):c.6029A>G (p.Lys2010Arg)
|
rs774354351
|
0.00014
|
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys)
|
rs876657827
|
0.00014
|
NM_057176.3(BSND):c.102C>T (p.Tyr34=)
|
rs141403253
|
0.00014
|
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)
|
rs534570825
|
0.00014
|
NM_080680.3(COL11A2):c.4590C>T (p.Thr1530=)
|
rs375329541
|
0.00014
|
NM_153676.4(USH1C):c.790G>A (p.Val264Ile)
|
rs79875849
|
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_206933.4(USH2A):c.1608C>T (p.Cys536=)
|
rs187380128
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
|
rs199472728
|
0.00013
|
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile)
|
rs397516016
|
0.00013
|
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=)
|
rs397516054
|
0.00013
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_000257.4(MYH7):c.3726+6C>T
|
rs377745688
|
0.00013
|
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn)
|
rs372050452
|
0.00013
|
NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val)
|
rs397516300
|
0.00013
|
NM_000307.5(POU3F4):c.506C>T (p.Pro169Leu)
|
rs200696740
|
0.00013
|
NM_000307.5(POU3F4):c.753G>A (p.Leu251=)
|
rs779713849
|
0.00013
|
NM_000335.5(SCN5A):c.1891-8G>A
|
rs12720064
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=)
|
rs143782040
|
0.00013
|
NM_001031679.3(MSRB3):c.-67G>C
|
rs368104588
|
0.00013
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln)
|
rs200528850
|
0.00013
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
NM_001145809.2(MYH14):c.810C>T (p.Phe270=)
|
rs374146214
|
0.00013
|
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His)
|
rs146159479
|
0.00013
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)
|
rs374405802
|
0.00013
|
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)
|
rs200941841
|
0.00013
|
NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg)
|
rs727504697
|
0.00013
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
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.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His)
|
rs397517573
|
0.00013
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)
|
rs397517600
|
0.00013
|
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=)
|
rs371730757
|
0.00013
|
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg)
|
rs727505316
|
0.00013
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu)
|
rs146636599
|
0.00013
|
NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)
|
rs375667028
|
0.00013
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)
|
rs201019681
|
0.00013
|
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)
|
rs373509153
|
0.00013
|
NM_001330.5(CTF1):c.145-13C>T
|
rs397516646
|
0.00013
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)
|
rs201994383
|
0.00013
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
NM_002230.4(JUP):c.1365C>T (p.Ala455=)
|
rs77375949
|
0.00013
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
NM_002473.6(MYH9):c.928A>G (p.Ile310Val)
|
rs149789202
|
0.00013
|
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)
|
rs397516800
|
0.00013
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
NM_003242.6(TGFBR2):c.94+16238C>T
|
rs149757320
|
0.00013
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=)
|
rs367977493
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_007078.3(LDB3):c.1956C>T (p.Asp652=)
|
rs139213290
|
0.00013
|
NM_007078.3(LDB3):c.714C>T (p.Ala238=)
|
rs727503125
|
0.00013
|
NM_015512.5(DNAH1):c.3432C>T (p.Ser1144=)
|
rs534534857
|
0.00013
|
NM_016239.4(MYO15A):c.1602C>T (p.Phe534=)
|
rs547305039
|
0.00013
|
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)
|
rs200451098
|
0.00013
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln)
|
rs373011563
|
0.00013
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982
|
0.00013
|
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)
|
rs368828743
|
0.00013
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
NM_030662.4(MAP2K2):c.246C>T (p.Asn82=)
|
rs150942310
|
0.00013
|
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=)
|
rs368233443
|
0.00013
|
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=)
|
rs375077719
|
0.00013
|
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu)
|
rs200659780
|
0.00013
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00013
|
NM_057176.3(BSND):c.806G>A (p.Arg269Gln)
|
rs199832638
|
0.00013
|
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)
|
rs727504460
|
0.00013
|
NM_133379.5(TTN):c.15768T>A (p.His5256Gln)
|
rs138826545
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=)
|
rs148975669
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
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_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
NM_000219.6(KCNE1):c.162C>T (p.Phe54=)
|
rs17173508
|
0.00012
|
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=)
|
rs377292092
|
0.00012
|
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=)
|
rs201040413
|
0.00012
|
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys)
|
rs190765116
|
0.00012
|
NM_000257.4(MYH7):c.240C>T (p.Asn80=)
|
rs200493975
|
0.00012
|
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)
|
rs148310342
|
0.00012
|
NM_000260.4(MYO7A):c.4441+7C>T
|
rs372493678
|
0.00012
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00012
|
NM_001005242.3(PKP2):c.1379-2005A>G
|
rs397516995
|
0.00012
|
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp)
|
rs374486955
|
0.00012
|
NM_001080476.3(GRXCR1):c.753C>T (p.Ser251=)
|
rs374667597
|
0.00012
|
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=)
|
rs370629848
|
0.00012
|
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)
|
rs200177134
|
0.00012
|
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys)
|
rs369626956
|
0.00012
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
NM_001145809.2(MYH14):c.5876G>A (p.Arg1959Gln)
|
rs200878464
|
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.12653T>C (p.Ile4218Thr)
|
rs374631591
|
0.00012
|
NM_001267550.2(TTN):c.1399-3C>T
|
rs397517486
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)
|
rs146219199
|
0.00012
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
NM_001267550.2(TTN):c.24505+13C>T
|
rs534803807
|
0.00012
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
NM_001267550.2(TTN):c.39045G>C (p.Val13015=)
|
rs192464868
|
0.00012
|
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile)
|
rs374394719
|
0.00012
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00012
|
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn)
|
rs370342831
|
0.00012
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00012
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00012
|
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)
|
rs397517667
|
0.00012
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)
|
rs397517720
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)
|
rs199629314
|
0.00012
|
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met)
|
rs201998913
|
0.00012
|
NM_001292063.2(OTOG):c.2080+5G>C
|
rs765790706
|
0.00012
|
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)
|
rs104893615
|
0.00012
|
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp)
|
rs200752089
|
0.00012
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00012
|
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val)
|
rs377282102
|
0.00012
|
NM_002230.4(JUP):c.1959C>T (p.Ser653=)
|
rs375451560
|
0.00012
|
NM_002473.6(MYH9):c.5709C>T (p.Ala1903=)
|
rs145444485
|
0.00012
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
NM_004100.5(EYA4):c.1739-64G>A
|
rs143208937
|
0.00012
|
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu)
|
rs397516907
|
0.00012
|
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)
|
rs140261885
|
0.00012
|
NM_005228.5(EGFR):c.2166G>A (p.Ala722=)
|
rs367694667
|
0.00012
|
NM_005373.3(MPL):c.391+5G>C
|
rs752453717
|
0.00012
|
NM_006005.3(WFS1):c.1395C>T (p.Ala465=)
|
rs71530905
|
0.00012
|
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)
|
rs147147660
|
0.00012
|
NM_006383.4(CIB2):c.192G>A (p.Glu64=)
|
rs145415848
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_014000.3(VCL):c.2796T>C (p.Asp932=)
|
rs140308982
|
0.00012
|
NM_016599.5(MYOZ2):c.76+10A>G
|
rs372006344
|
0.00012
|
NM_016929.5(CLIC5):c.739C>T (p.Arg247Cys)
|
rs202022202
|
0.00012
|
NM_021116.4(ADCY1):c.2338G>A (p.Val780Ile)
|
rs140746527
|
0.00012
|
NM_030662.4(MAP2K2):c.581-8G>A
|
rs369262004
|
0.00012
|
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro)
|
rs200805176
|
0.00012
|
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=)
|
rs549704545
|
0.00012
|
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp)
|
rs369126897
|
0.00012
|
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)
|
rs139116571
|
0.00012
|
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)
|
rs201663789
|
0.00012
|
NM_194248.3(OTOF):c.2523+5G>A
|
rs201745796
|
0.00012
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
NM_000257.4(MYH7):c.345C>T (p.Tyr115=)
|
rs149439730
|
0.00011
|
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=)
|
rs374289523
|
0.00011
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
|
rs372970828
|
0.00011
|
NM_000432.4(MYL2):c.33G>A (p.Gly11=)
|
rs199742269
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000487.6(ARSA):c.869G>A (p.Arg290His)
|
rs199476355
|
0.00011
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)
|
rs67939655
|
0.00011
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)
|
rs141035459
|
0.00011
|
NM_001018005.2(TPM1):c.726G>A (p.Ala242=)
|
rs200484871
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His)
|
rs746541677
|
0.00011
|
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr)
|
rs397516720
|
0.00011
|
NM_001134363.3(RBM20):c.1275+8G>T
|
rs727505318
|
0.00011
|
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp)
|
rs397516629
|
0.00011
|
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln)
|
rs63751086
|
0.00011
|
NM_001199799.2(ILDR1):c.972C>T (p.Val324=)
|
rs138334785
|
0.00011
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)
|
rs727504609
|
0.00011
|
NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr)
|
rs112266780
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)
|
rs376037792
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.19715-4A>G
|
rs375009631
|
0.00011
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
NM_001267550.2(TTN):c.25065G>A (p.Ala8355=)
|
rs397517514
|
0.00011
|
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)
|
rs369095270
|
0.00011
|
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp)
|
rs144672482
|
0.00011
|
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)
|
rs199834143
|
0.00011
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
NM_001267550.2(TTN):c.51437-9G>A
|
rs183060991
|
0.00011
|
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)
|
rs181957743
|
0.00011
|
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)
|
rs200155485
|
0.00011
|
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)
|
rs374492812
|
0.00011
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)
|
rs201380749
|
0.00011
|
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)
|
rs201095164
|
0.00011
|
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)
|
rs372784067
|
0.00011
|
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)
|
rs368439674
|
0.00011
|
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn)
|
rs376679796
|
0.00011
|
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)
|
rs370541682
|
0.00011
|
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala)
|
rs556720151
|
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_001379180.1(ESRRB):c.876C>T (p.Asp292=)
|
rs201417586
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
NM_002471.4(MYH6):c.1410C>T (p.Asp470=)
|
rs139886074
|
0.00011
|
NM_002473.6(MYH9):c.1980G>A (p.Thr660=)
|
rs200975323
|
0.00011
|
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met)
|
rs758626716
|
0.00011
|
NM_002473.6(MYH9):c.5277C>T (p.Ile1759=)
|
rs183105164
|
0.00011
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)
|
rs199795359
|
0.00011
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
|
rs181378432
|
0.00011
|
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)
|
rs201267786
|
0.00011
|
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)
|
rs143132980
|
0.00011
|
NM_005343.4(HRAS):c.330C>T (p.Pro110=)
|
rs200747280
|
0.00011
|
NM_005379.4(MYO1A):c.92G>A (p.Arg31His)
|
rs727504447
|
0.00011
|
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)
|
rs199638531
|
0.00011
|
NM_005422.4(TECTA):c.915C>T (p.Cys305=)
|
rs367974065
|
0.00011
|
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=)
|
rs373319212
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_015404.4(WHRN):c.2112G>T (p.Leu704=)
|
rs535492772
|
0.00011
|
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn)
|
rs200073414
|
0.00011
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)
|
rs372466080
|
0.00011
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_020975.6(RET):c.1522+35C>T
|
rs377130948
|
0.00011
|
NM_022114.4(PRDM16):c.1709C>T (p.Thr570Met)
|
rs138655327
|
0.00011
|
NM_022124.6(CDH23):c.1227G>A (p.Ala409=)
|
rs371212430
|
0.00011
|
NM_022124.6(CDH23):c.1450-4G>A
|
rs374549358
|
0.00011
|
NM_030662.4(MAP2K2):c.981C>T (p.Asn327=)
|
rs143275018
|
0.00011
|
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)
|
rs373354231
|
0.00011
|
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)
|
rs200644004
|
0.00011
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054
|
0.00011
|
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=)
|
rs201983595
|
0.00011
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)
|
rs188490457
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)
|
rs181805996
|
0.00011
|
NM_194248.3(OTOF):c.2512C>T (p.Leu838=)
|
rs146139327
|
0.00011
|
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn)
|
rs139201321
|
0.00011
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00011
|
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)
|
rs138879998
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln)
|
rs190170807
|
0.00011
|
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)
|
rs188093326
|
0.00011
|
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)
|
rs80358387
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=)
|
rs377520770
|
0.00010
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131
|
0.00010
|
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr)
|
rs374576916
|
0.00010
|
NM_000260.4(MYO7A):c.617G>A (p.Arg206His)
|
rs781998354
|
0.00010
|
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=)
|
rs200556220
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000337.6(SGCD):c.394G>A (p.Val132Ile)
|
rs367819390
|
0.00010
|
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp)
|
rs56199535
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)
|
rs397516426
|
0.00010
|
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)
|
rs150597240
|
0.00010
|
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)
|
rs138462416
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)
|
rs758166168
|
0.00010
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
NM_001018005.2(TPM1):c.522C>T (p.Ser174=)
|
rs200173919
|
0.00010
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)
|
rs118203989
|
0.00010
|
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=)
|
rs191631773
|
0.00010
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp)
|
rs151119304
|
0.00010
|
NM_001105206.3(LAMA4):c.1551+4C>T
|
rs201209516
|
0.00010
|
NM_001127453.2(GSDME):c.87T>A (p.Asp29Glu)
|
rs148370267
|
0.00010
|
NM_001128840.3(CACNA1D):c.3115-3C>T
|
rs779910083
|
0.00010
|
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr)
|
rs759409255
|
0.00010
|
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val)
|
rs727503387
|
0.00010
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp)
|
rs376267080
|
0.00010
|
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)
|
rs180177462
|
0.00010
|
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)
|
rs372521529
|
0.00010
|
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)
|
rs369896045
|
0.00010
|
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)
|
rs377337528
|
0.00010
|
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys)
|
rs727504586
|
0.00010
|
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu)
|
rs201565932
|
0.00010
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)
|
rs201506104
|
0.00010
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)
|
rs369544339
|
0.00010
|
NM_001267550.2(TTN):c.2151C>T (p.Pro717=)
|
rs374570732
|
0.00010
|
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)
|
rs397517510
|
0.00010
|
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)
|
rs370973715
|
0.00010
|
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)
|
rs201857541
|
0.00010
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)
|
rs369476725
|
0.00010
|
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)
|
rs202240487
|
0.00010
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)
|
rs397517662
|
0.00010
|
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)
|
rs200146608
|
0.00010
|
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)
|
rs200493270
|
0.00010
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn)
|
rs192962624
|
0.00010
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)
|
rs368023868
|
0.00010
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00010
|
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile)
|
rs727504672
|
0.00010
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter)
|
rs1407028917
|
0.00010
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
NM_001386795.1(DTNA):c.1086-321A>C
|
rs191973037
|
0.00010
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
NM_002230.4(JUP):c.926A>G (p.Asn309Ser)
|
rs140606359
|
0.00010
|
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)
|
rs142059069
|
0.00010
|
NM_002471.4(MYH6):c.3343-3C>A
|
rs565446762
|
0.00010
|
NM_002473.6(MYH9):c.1149C>T (p.Thr383=)
|
rs143974891
|
0.00010
|
NM_002880.4(RAF1):c.935T>C (p.Val312Ala)
|
rs370243307
|
0.00010
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
NM_004447.6(EPS8):c.670G>A (p.Val224Ile)
|
rs758506896
|
0.00010
|
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)
|
rs199788586
|
0.00010
|
NM_005228.5(EGFR):c.2457G>A (p.Val819=)
|
rs56183713
|
0.00010
|
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)
|
rs375550588
|
0.00010
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
NM_006012.4(CLPP):c.100C>T (p.Pro34Ser)
|
rs776759641
|
0.00010
|
NM_006371.5(CRTAP):c.471+2C>A
|
rs137853943
|
0.00010
|
NM_007078.3(LDB3):c.273G>A (p.Thr91=)
|
rs45613039
|
0.00010
|
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu)
|
rs189654215
|
0.00010
|
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)
|
rs143763650
|
0.00010
|
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)
|
rs142482217
|
0.00010
|
NM_022114.4(PRDM16):c.714C>A (p.Leu238=)
|
rs371540074
|
0.00010
|
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)
|
rs201589645
|
0.00010
|
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile)
|
rs111033519
|
0.00010
|
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)
|
rs186866326
|
0.00010
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys)
|
rs183319660
|
0.00010
|
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)
|
rs200530343
|
0.00010
|
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)
|
rs201180985
|
0.00010
|
NM_033337.3(CAV3):c.168C>T (p.Gly56=)
|
rs116840774
|
0.00010
|
NM_057176.3(BSND):c.457G>A (p.Asp153Asn)
|
rs202128855
|
0.00010
|
NM_080680.3(COL11A2):c.798+38C>A
|
rs200989046
|
0.00010
|
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu)
|
rs151253841
|
0.00010
|
NM_133379.5(TTN):c.16075A>G (p.Met5359Val)
|
rs372044281
|
0.00010
|
NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln)
|
rs148147002
|
0.00010
|
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val)
|
rs200157475
|
0.00010
|
NM_176787.5(PIGN):c.548_549+6del
|
rs779636222
|
0.00010
|
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys)
|
rs146982209
|
0.00010
|
NM_194248.3(OTOF):c.5128A>C (p.Met1710Leu)
|
rs368639052
|
0.00010
|
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=)
|
rs141528682
|
0.00010
|
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met)
|
rs200570742
|
0.00010
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
NM_206933.4(USH2A):c.6958-5C>T
|
rs147914083
|
0.00010
|
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)
|
rs80338711
|
0.00009
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)
|
rs200860702
|
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_000218.3(KCNQ1):c.328G>A (p.Val110Ile)
|
rs199472677
|
0.00009
|
NM_000257.4(MYH7):c.2091T>C (p.Gly697=)
|
rs140380523
|
0.00009
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000257.4(MYH7):c.327C>T (p.Tyr109=)
|
rs36211408
|
0.00009
|
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=)
|
rs201171029
|
0.00009
|
NM_000260.4(MYO7A):c.3750+7G>A
|
rs397516305
|
0.00009
|
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)
|
rs111033376
|
0.00009
|
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)
|
rs397516328
|
0.00009
|
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=)
|
rs564847999
|
0.00009
|
NM_000335.5(SCN5A):c.3618C>T (p.Phe1206=)
|
rs184934308
|
0.00009
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)
|
rs192057022
|
0.00009
|
NM_000441.2(SLC26A4):c.61A>G (p.Met21Val)
|
rs375716219
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_000601.6(HGF):c.270T>C (p.Asp90=)
|
rs145598174
|
0.00009
|
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)
|
rs72550247
|
0.00009
|
NM_001039876.3(SYNE4):c.789A>G (p.Gln263=)
|
rs557057979
|
0.00009
|
NM_001103.4(ACTN2):c.165C>T (p.Ala55=)
|
rs193922634
|
0.00009
|
NM_001145809.2(MYH14):c.693C>T (p.Pro231=)
|
rs373744231
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=)
|
rs186672543
|
0.00009
|
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)
|
rs773237428
|
0.00009
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)
|
rs397517786
|
0.00009
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)
|
rs143030869
|
0.00009
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)
|
rs72648945
|
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.33305G>A (p.Arg11102His)
|
rs368777046
|
0.00009
|
NM_001267550.2(TTN):c.33418+12C>A
|
rs199772748
|
0.00009
|
NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe)
|
rs551911856
|
0.00009
|
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=)
|
rs369128249
|
0.00009
|
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=)
|
rs369959066
|
0.00009
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr)
|
rs766391823
|
0.00009
|
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)
|
rs368988689
|
0.00009
|
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln)
|
rs138896856
|
0.00009
|
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)
|
rs370067597
|
0.00009
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)
|
rs549478203
|
0.00009
|
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)
|
rs150725992
|
0.00009
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)
|
rs727503603
|
0.00009
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)
|
rs200455644
|
0.00009
|
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)
|
rs374858668
|
0.00009
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00009
|
NM_001267550.2(TTN):c.68225-5T>C
|
rs758273663
|
0.00009
|
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val)
|
rs142391957
|
0.00009
|
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile)
|
rs753966916
|
0.00009
|
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val)
|
rs750806089
|
0.00009
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala)
|
rs759474127
|
0.00009
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
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_001292063.2(OTOG):c.2294-7A>G
|
rs200998174
|
0.00009
|
NM_001318895.3(FHL2):c.392G>A (p.Arg131His)
|
rs371421189
|
0.00009
|
NM_001370259.2(MEN1):c.655-4del
|
rs748005956
|
0.00009
|
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter)
|
rs377708973
|
0.00009
|
NM_001378609.3(OTOGL):c.236-2A>G
|
rs766564988
|
0.00009
|
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr)
|
rs775475186
|
0.00009
|
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser)
|
rs775871086
|
0.00009
|
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=)
|
rs749182319
|
0.00009
|
NM_001614.5(ACTG1):c.45C>T (p.Gly15=)
|
rs145574149
|
0.00009
|
NM_001614.5(ACTG1):c.954C>T (p.Thr318=)
|
rs3211110
|
0.00009
|
NM_001692.4(ATP6V1B1):c.1061-13A>G
|
rs200724195
|
0.00009
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00009
|
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)
|
rs727504770
|
0.00009
|
NM_002294.3(LAMP2):c.42C>T (p.Leu14=)
|
rs727503122
|
0.00009
|
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=)
|
rs368497504
|
0.00009
|
NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys)
|
rs201021615
|
0.00009
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004085.4(TIMM8A):c.15C>T (p.Ser5=)
|
rs369736736
|
0.00009
|
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=)
|
rs189900453
|
0.00009
|
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly)
|
rs184810732
|
0.00009
|
NM_005422.4(TECTA):c.65-14A>G
|
rs201171064
|
0.00009
|
NM_005633.4(SOS1):c.244A>G (p.Ile82Val)
|
rs397517157
|
0.00009
|
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn)
|
rs199856844
|
0.00009
|
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)
|
rs71526461
|
0.00009
|
NM_006016.6(CD164):c.330C>T (p.Ser110=)
|
rs199887608
|
0.00009
|
NM_006393.3(NEBL):c.120A>G (p.Glu40=)
|
rs397517203
|
0.00009
|
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)
|
rs140540222
|
0.00009
|
NM_014000.3(VCL):c.1290C>T (p.Asp430=)
|
rs576271894
|
0.00009
|
NM_014000.3(VCL):c.2142C>T (p.Asp714=)
|
rs373790383
|
0.00009
|
NM_014000.3(VCL):c.2799G>A (p.Ala933=)
|
rs199507346
|
0.00009
|
NM_014000.3(VCL):c.3066C>T (p.Ile1022=)
|
rs138619320
|
0.00009
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=)
|
rs397517276
|
0.00009
|
NM_016239.4(MYO15A):c.10154T>C (p.Val3385Ala)
|
rs376432083
|
0.00009
|
NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly)
|
rs200041829
|
0.00009
|
NM_016239.4(MYO15A):c.6764+2T>A
|
rs763975867
|
0.00009
|
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg)
|
rs201542989
|
0.00009
|
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His)
|
rs377389290
|
0.00009
|
NM_016599.5(MYOZ2):c.303G>A (p.Ser101=)
|
rs527258961
|
0.00009
|
NM_020433.5(JPH2):c.1169+10C>T
|
rs372219237
|
0.00009
|
NM_021803.4(IL21):c.127A>T (p.Ile43Leu)
|
rs374097344
|
0.00009
|
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met)
|
rs201654872
|
0.00009
|
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met)
|
rs397517319
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr)
|
rs369395479
|
0.00009
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00009
|
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=)
|
rs192389729
|
0.00009
|
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val)
|
rs761066341
|
0.00009
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680
|
0.00009
|
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)
|
rs375062187
|
0.00009
|
NM_032119.4(ADGRV1):c.16079-11C>G
|
rs374007277
|
0.00009
|
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu)
|
rs373862154
|
0.00009
|
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)
|
rs200179979
|
0.00009
|
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile)
|
rs547397177
|
0.00009
|
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu)
|
rs200503628
|
0.00009
|
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu)
|
rs201245117
|
0.00009
|
NM_080680.3(COL11A2):c.1666-9T>G
|
rs181999673
|
0.00009
|
NM_133379.5(TTN):c.13589T>G (p.Ile4530Arg)
|
rs200066725
|
0.00009
|
NM_133379.5(TTN):c.13746A>G (p.Gln4582=)
|
rs201945197
|
0.00009
|
NM_138691.3(TMC1):c.760G>A (p.Val254Ile)
|
rs111033497
|
0.00009
|
NM_144573.4(NEXN):c.949A>C (p.Met317Leu)
|
rs559464457
|
0.00009
|
NM_144672.4(OTOA):c.2153A>G (p.Asp718Gly)
|
rs767518359
|
0.00009
|
NM_144991.3(TSPEAR):c.411G>A (p.Thr137=)
|
rs140923114
|
0.00009
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu)
|
rs371856107
|
0.00009
|
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg)
|
rs146615166
|
0.00009
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)
|
rs764124390
|
0.00009
|
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=)
|
rs768759268
|
0.00009
|
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln)
|
rs780020144
|
0.00009
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
NM_000256.3(MYBPC3):c.93C>T (p.Ala31=)
|
rs397516085
|
0.00008
|
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)
|
rs587782962
|
0.00008
|
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)
|
rs45560242
|
0.00008
|
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)
|
rs199473638
|
0.00008
|
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)
|
rs72654426
|
0.00008
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=)
|
rs367987360
|
0.00008
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)
|
rs144885874
|
0.00008
|
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr)
|
rs727504595
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser)
|
rs200272339
|
0.00008
|
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)
|
rs370869383
|
0.00008
|
NM_001267550.2(TTN):c.103524C>T (p.Val34508=)
|
rs587780985
|
0.00008
|
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)
|
rs200782068
|
0.00008
|
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr)
|
rs397517829
|
0.00008
|
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)
|
rs191968963
|
0.00008
|
NM_001267550.2(TTN):c.2776-14T>C
|
rs201611946
|
0.00008
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)
|
rs772677752
|
0.00008
|
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)
|
rs727504520
|
0.00008
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
NM_001267550.2(TTN):c.99668G>A (p.Arg33223His)
|
rs369081242
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001354604.2(MITF):c.537C>T (p.Asn179=)
|
rs150591206
|
0.00008
|
NM_001384140.1(PCDH15):c.92-10C>T
|
rs202223952
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu)
|
rs778319108
|
0.00008
|
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp)
|
rs527571090
|
0.00008
|
NM_002473.6(MYH9):c.5694C>T (p.Arg1898=)
|
rs559732738
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004333.6(BRAF):c.375T>G (p.Ser125=)
|
rs201507202
|
0.00008
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)
|
rs121434322
|
0.00008
|
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)
|
rs149432225
|
0.00008
|
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met)
|
rs186780639
|
0.00008
|
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)
|
rs118031911
|
0.00008
|
NM_014000.3(VCL):c.3333T>C (p.Ala1111=)
|
rs147415627
|
0.00008
|
NM_016239.4(MYO15A):c.4038+6_4038+7del
|
rs1491110483
|
0.00008
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_020297.4(ABCC9):c.3993C>T (p.His1331=)
|
rs377704379
|
0.00008
|
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
NM_021167.5(GATAD1):c.558G>A (p.Thr186=)
|
rs141932124
|
0.00008
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)
|
rs373768157
|
0.00008
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)
|
rs150369301
|
0.00008
|
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)
|
rs369717492
|
0.00008
|
NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala)
|
rs753618520
|
0.00008
|
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter)
|
rs761299690
|
0.00008
|
NM_033337.3(CAV3):c.444G>A (p.Arg148=)
|
rs376749605
|
0.00008
|
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=)
|
rs369726425
|
0.00008
|
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys)
|
rs752552097
|
0.00008
|
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln)
|
rs562658562
|
0.00008
|
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala)
|
rs200760091
|
0.00008
|
NM_138691.3(TMC1):c.2129+15T>A
|
rs747921456
|
0.00008
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln)
|
rs397517883
|
0.00008
|
NM_170682.4(P2RX2):c.964G>A (p.Gly322Arg)
|
rs201474543
|
0.00008
|
NM_182548.4(LHFPL5):c.411G>A (p.Ala137=)
|
rs140326236
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys)
|
rs140548353
|
0.00008
|
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)
|
rs372966682
|
0.00008
|
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro)
|
rs199476197
|
0.00008
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)
|
rs145948549
|
0.00007
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln)
|
rs147125175
|
0.00007
|
NM_000219.6(KCNE1):c.252C>T (p.Ser84=)
|
rs138884514
|
0.00007
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000251.3(MSH2):c.818T>C (p.Val273Ala)
|
rs144288433
|
0.00007
|
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=)
|
rs397515955
|
0.00007
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
NM_000257.4(MYH7):c.114C>T (p.Phe38=)
|
rs146210693
|
0.00007
|
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=)
|
rs368734580
|
0.00007
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met)
|
rs781811444
|
0.00007
|
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)
|
rs199473339
|
0.00007
|
NM_000363.5(TNNI3):c.373-4C>G
|
rs2288530
|
0.00007
|
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)
|
rs148647933
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr)
|
rs141774517
|
0.00007
|
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His)
|
rs397516723
|
0.00007
|
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr)
|
rs876657971
|
0.00007
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=)
|
rs727503388
|
0.00007
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys)
|
rs141559449
|
0.00007
|
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=)
|
rs143140947
|
0.00007
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)
|
rs397517795
|
0.00007
|
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)
|
rs727503652
|
0.00007
|
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile)
|
rs369932282
|
0.00007
|
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)
|
rs571348685
|
0.00007
|
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)
|
rs145308734
|
0.00007
|
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)
|
rs374419129
|
0.00007
|
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)
|
rs727503604
|
0.00007
|
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=)
|
rs371155050
|
0.00007
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
NM_001267550.2(TTN):c.561G>A (p.Ser187=)
|
rs141444282
|
0.00007
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=)
|
rs189818369
|
0.00007
|
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His)
|
rs727503585
|
0.00007
|
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr)
|
rs375202101
|
0.00007
|
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=)
|
rs181702963
|
0.00007
|
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met)
|
rs144398602
|
0.00007
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His)
|
rs369899675
|
0.00007
|
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)
|
rs397517775
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
NM_002230.4(JUP):c.1774-6C>T
|
rs375016135
|
0.00007
|
NM_002230.4(JUP):c.356C>T (p.Pro119Leu)
|
rs376123010
|
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_002473.6(MYH9):c.2719A>G (p.Thr907Ala)
|
rs754354210
|
0.00007
|
NM_002473.6(MYH9):c.5151-4G>A
|
rs368125656
|
0.00007
|
NM_002755.4(MAP2K1):c.292-3C>T
|
rs55694358
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)
|
rs750349613
|
0.00007
|
NM_005422.4(TECTA):c.2967C>A (p.His989Gln)
|
rs200821009
|
0.00007
|
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala)
|
rs200544452
|
0.00007
|
NM_005548.3(KARS1):c.759T>C (p.Tyr253=)
|
rs538215630
|
0.00007
|
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=)
|
rs727505181
|
0.00007
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
NM_006005.3(WFS1):c.21G>T (p.Pro7=)
|
rs372928810
|
0.00007
|
NM_006005.3(WFS1):c.342C>T (p.Ala114=)
|
rs201151892
|
0.00007
|
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu)
|
rs373669861
|
0.00007
|
NM_006231.4(POLE):c.5278G>A (p.Val1760Met)
|
rs373272795
|
0.00007
|
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala)
|
rs145108467
|
0.00007
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
NM_013296.5(GPSM2):c.57-10A>G
|
rs184863735
|
0.00007
|
NM_015404.4(WHRN):c.1716C>T (p.Thr572=)
|
rs760471578
|
0.00007
|
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)
|
rs376351191
|
0.00007
|
NM_016239.4(MYO15A):c.9982A>C (p.Ser3328Arg)
|
rs376470294
|
0.00007
|
NM_021116.4(ADCY1):c.1983+10T>A
|
rs12721475
|
0.00007
|
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp)
|
rs397517333
|
0.00007
|
NM_022124.6(CDH23):c.996G>A (p.Thr332=)
|
rs727504715
|
0.00007
|
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr)
|
rs199689484
|
0.00007
|
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=)
|
rs182626712
|
0.00007
|
NM_032119.4(ADGRV1):c.9466A>G (p.Ile3156Val)
|
rs372484022
|
0.00007
|
NM_032229.3(SLITRK6):c.1029T>C (p.Leu343=)
|
rs200156618
|
0.00007
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00007
|
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)
|
rs147576338
|
0.00007
|
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile)
|
rs201180712
|
0.00007
|
NM_153676.4(USH1C):c.2004C>A (p.Pro668=)
|
rs201586291
|
0.00007
|
NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln)
|
rs374696855
|
0.00007
|
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
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_000092.5(COL4A4):c.1129C>T (p.Arg377Cys)
|
rs555143841
|
0.00006
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000218.3(KCNQ1):c.1514+7G>T
|
rs372593469
|
0.00006
|
NM_000218.3(KCNQ1):c.225T>C (p.Val75=)
|
rs367817352
|
0.00006
|
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)
|
rs727504769
|
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_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=)
|
rs377579620
|
0.00006
|
NM_000256.3(MYBPC3):c.654+12G>A
|
rs397516065
|
0.00006
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
NM_000257.4(MYH7):c.115G>A (p.Val39Met)
|
rs376160714
|
0.00006
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
NM_000257.4(MYH7):c.2922G>A (p.Lys974=)
|
rs147727900
|
0.00006
|
NM_000257.4(MYH7):c.4053G>A (p.Thr1351=)
|
rs397516200
|
0.00006
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
NM_000260.4(MYO7A):c.3503+9C>T
|
rs1481745974
|
0.00006
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
0.00006
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=)
|
rs41312407
|
0.00006
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=)
|
rs375254452
|
0.00006
|
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
|
rs397517923
|
0.00006
|
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)
|
rs28943590
|
0.00006
|
NM_000441.2(SLC26A4):c.-4+5G>A
|
rs727503425
|
0.00006
|
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
|
rs200511789
|
0.00006
|
NM_000441.2(SLC26A4):c.1470C>T (p.Ile490=)
|
rs140918297
|
0.00006
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met)
|
rs144691257
|
0.00006
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00006
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile)
|
rs147075806
|
0.00006
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
NM_001018005.2(TPM1):c.27G>A (p.Gln9=)
|
rs397516365
|
0.00006
|
NM_001018008.2(TPM1):c.695G>A (p.Arg232His)
|
rs730881128
|
0.00006
|
NM_001035.3(RYR2):c.1518C>T (p.His506=)
|
rs372620246
|
0.00006
|
NM_001035.3(RYR2):c.1612+13A>G
|
rs368200572
|
0.00006
|
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)
|
rs370740528
|
0.00006
|
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=)
|
rs137890030
|
0.00006
|
NM_001103.4(ACTN2):c.354C>T (p.Gly118=)
|
rs539250948
|
0.00006
|
NM_001105206.3(LAMA4):c.228G>A (p.Ser76=)
|
rs200589775
|
0.00006
|
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=)
|
rs141988342
|
0.00006
|
NM_001134363.3(RBM20):c.3574-7T>G
|
rs397516616
|
0.00006
|
NM_001134363.3(RBM20):c.774G>A (p.Ser258=)
|
rs569846404
|
0.00006
|
NM_001145809.2(MYH14):c.2334C>A (p.Leu778=)
|
rs190941610
|
0.00006
|
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys)
|
rs200818171
|
0.00006
|
NM_001164508.2(NEB):c.23742+2T>C
|
rs545937015
|
0.00006
|
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)
|
rs72554056
|
0.00006
|
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)
|
rs199696688
|
0.00006
|
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp)
|
rs200716930
|
0.00006
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
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.12558A>G (p.Pro4186=)
|
rs72648921
|
0.00006
|
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn)
|
rs200348414
|
0.00006
|
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val)
|
rs397517487
|
0.00006
|
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu)
|
rs727505256
|
0.00006
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
0.00006
|
NM_001267550.2(TTN):c.22241-5T>C
|
rs397517501
|
0.00006
|
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu)
|
rs188234466
|
0.00006
|
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)
|
rs368151971
|
0.00006
|
NM_001267550.2(TTN):c.32198-10T>C
|
rs371121439
|
0.00006
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
NM_001267550.2(TTN):c.33173-4G>A
|
rs727504440
|
0.00006
|
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)
|
rs369623392
|
0.00006
|
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)
|
rs199910114
|
0.00006
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala)
|
rs773027240
|
0.00006
|
NM_001267550.2(TTN):c.53002+10G>A
|
rs370352450
|
0.00006
|
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His)
|
rs373526624
|
0.00006
|
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser)
|
rs766074604
|
0.00006
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)
|
rs767152563
|
0.00006
|
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp)
|
rs727504479
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)
|
rs777009984
|
0.00006
|
NM_001267550.2(TTN):c.66160+15C>T
|
rs377288086
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)
|
rs727503575
|
0.00006
|
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)
|
rs397517684
|
0.00006
|
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)
|
rs368914555
|
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.81758A>G (p.Asn27253Ser)
|
rs529055709
|
0.00006
|
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)
|
rs188323108
|
0.00006
|
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser)
|
rs727504693
|
0.00006
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)
|
rs570464905
|
0.00006
|
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)
|
rs561739832
|
0.00006
|
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)
|
rs2288326
|
0.00006
|
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=)
|
rs199652273
|
0.00006
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
NM_001276345.2(TNNT2):c.295-14C>T
|
rs747477576
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)
|
rs200693106
|
0.00006
|
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met)
|
rs758489218
|
0.00006
|
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys)
|
rs374613600
|
0.00006
|
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00006
|
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val)
|
rs727505275
|
0.00006
|
NM_001379180.1(ESRRB):c.924C>A (p.Gly308=)
|
rs148356050
|
0.00006
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
NM_001384474.1(LOXHD1):c.4376-6G>A
|
rs369463541
|
0.00006
|
NM_001384474.1(LOXHD1):c.4740+13G>T
|
rs570127242
|
0.00006
|
NM_001384474.1(LOXHD1):c.4741-11C>G
|
rs181095005
|
0.00006
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
NM_001386795.1(DTNA):c.603+15T>C
|
rs367772080
|
0.00006
|
NM_001393500.2(TOMT):c.123A>G (p.Ser41=)
|
rs397516626
|
0.00006
|
NM_001927.4(DES):c.99C>T (p.Pro33=)
|
rs774006810
|
0.00006
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
NM_002230.4(JUP):c.530G>A (p.Arg177Gln)
|
rs371481933
|
0.00006
|
NM_002230.4(JUP):c.762C>T (p.Leu254=)
|
rs781805854
|
0.00006
|
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)
|
rs149650190
|
0.00006
|
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met)
|
rs375819633
|
0.00006
|
NM_002471.4(MYH6):c.4245A>G (p.Ser1415=)
|
rs779697115
|
0.00006
|
NM_002471.4(MYH6):c.4525+13T>C
|
rs397516770
|
0.00006
|
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp)
|
rs375955867
|
0.00006
|
NM_002473.6(MYH9):c.4203C>T (p.His1401=)
|
rs539186034
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp)
|
rs780138978
|
0.00006
|
NM_002700.3(POU4F3):c.120+8G>A
|
rs188019440
|
0.00006
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)
|
rs185980145
|
0.00006
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
|
rs199529046
|
0.00006
|
NM_004281.4(BAG3):c.-4C>T
|
rs727502894
|
0.00006
|
NM_004281.4(BAG3):c.400T>A (p.Ser134Thr)
|
rs375257731
|
0.00006
|
NM_004281.4(BAG3):c.785C>T (p.Ala262Val)
|
rs397516883
|
0.00006
|
NM_004333.6(BRAF):c.1084C>A (p.Arg362=)
|
rs397516885
|
0.00006
|
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)
|
rs149773722
|
0.00006
|
NM_004415.4(DSP):c.8268A>C (p.Ile2756=)
|
rs397516963
|
0.00006
|
NM_004568.6(SERPINB6):c.379G>A (p.Val127Ile)
|
rs146252067
|
0.00006
|
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)
|
rs121908611
|
0.00006
|
NM_004985.5(KRAS):c.451-5560T>A
|
rs373169526
|
0.00006
|
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met)
|
rs121434569
|
0.00006
|
NM_005422.4(TECTA):c.1621G>A (p.Val541Met)
|
rs370652301
|
0.00006
|
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met)
|
rs372282487
|
0.00006
|
NM_005633.4(SOS1):c.929G>A (p.Arg310His)
|
rs143481916
|
0.00006
|
NM_006005.3(WFS1):c.1392C>T (p.Thr464=)
|
rs565697340
|
0.00006
|
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln)
|
rs146670741
|
0.00006
|
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr)
|
rs571946670
|
0.00006
|
NM_006005.3(WFS1):c.449C>T (p.Ala150Val)
|
rs113651985
|
0.00006
|
NM_006393.3(NEBL):c.2346+6G>A
|
rs201822024
|
0.00006
|
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg)
|
rs566463138
|
0.00006
|
NM_007078.3(LDB3):c.689+9C>T
|
rs727503124
|
0.00006
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=)
|
rs147484763
|
0.00006
|
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr)
|
rs201911936
|
0.00006
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00006
|
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)
|
rs749136456
|
0.00006
|
NM_016239.4(MYO15A):c.4484C>T (p.Thr1495Met)
|
rs760534158
|
0.00006
|
NM_016239.4(MYO15A):c.467T>C (p.Val156Ala)
|
rs761670755
|
0.00006
|
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys)
|
rs191828237
|
0.00006
|
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu)
|
rs368430972
|
0.00006
|
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln)
|
rs769596933
|
0.00006
|
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys)
|
rs374485649
|
0.00006
|
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn)
|
rs374160194
|
0.00006
|
NM_016239.4(MYO15A):c.8714-1G>A
|
rs377015931
|
0.00006
|
NM_016239.4(MYO15A):c.9436C>T (p.His3146Tyr)
|
rs201230033
|
0.00006
|
NM_016366.3(CABP2):c.345C>A (p.Thr115=)
|
rs376093439
|
0.00006
|
NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met)
|
rs137907278
|
0.00006
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321
|
0.00006
|
NM_022124.6(CDH23):c.460G>A (p.Val154Met)
|
rs199741966
|
0.00006
|
NM_022124.6(CDH23):c.6050-15G>A
|
rs373838930
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys)
|
rs371970388
|
0.00006
|
NM_032119.4(ADGRV1):c.13600A>G (p.Met4534Val)
|
rs761667882
|
0.00006
|
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)
|
rs369108080
|
0.00006
|
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln)
|
rs534266547
|
0.00006
|
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser)
|
rs397517427
|
0.00006
|
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)
|
rs200412477
|
0.00006
|
NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met)
|
rs1264693693
|
0.00006
|
NM_033337.3(CAV3):c.39C>T (p.Ile13=)
|
rs200562715
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
NM_080680.3(COL11A2):c.3583-3C>T
|
rs727502939
|
0.00006
|
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His)
|
rs772567850
|
0.00006
|
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys)
|
rs727504458
|
0.00006
|
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys)
|
rs144690298
|
0.00006
|
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)
|
rs199801224
|
0.00006
|
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro)
|
rs367952604
|
0.00006
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00006
|
NM_170707.4(LMNA):c.1381-6C>T
|
rs371635492
|
0.00006
|
NM_173477.5(USH1G):c.510C>G (p.Ala170=)
|
rs374630813
|
0.00006
|
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
|
rs769223754
|
0.00006
|
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys)
|
rs574277214
|
0.00006
|
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln)
|
rs376555091
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.1143+12C>T
|
rs727505167
|
0.00006
|
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)
|
rs148674752
|
0.00006
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val)
|
rs727503732
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)
|
rs201101343
|
0.00005
|
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn)
|
rs972796332
|
0.00005
|
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr)
|
rs745815071
|
0.00005
|
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp)
|
rs200817090
|
0.00005
|
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His)
|
rs768326843
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000219.6(KCNE1):c.-5C>A
|
rs191334763
|
0.00005
|
NM_000219.6(KCNE1):c.30G>A (p.Thr10=)
|
rs187686559
|
0.00005
|
NM_000219.6(KCNE1):c.315G>A (p.Ser105=)
|
rs563859144
|
0.00005
|
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)
|
rs76420733
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000256.3(MYBPC3):c.1227-10C>T
|
rs374673836
|
0.00005
|
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=)
|
rs397515906
|
0.00005
|
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)
|
rs727503195
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=)
|
rs397515932
|
0.00005
|
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=)
|
rs397515996
|
0.00005
|
NM_000257.4(MYH7):c.1251C>G (p.Val417=)
|
rs370628924
|
0.00005
|
NM_000257.4(MYH7):c.1323G>A (p.Thr441=)
|
rs397516096
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=)
|
rs200664031
|
0.00005
|
NM_000257.4(MYH7):c.5559+4C>T
|
rs727504319
|
0.00005
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224
|
0.00005
|
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)
|
rs199473128
|
0.00005
|
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=)
|
rs377173580
|
0.00005
|
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)
|
rs184492796
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu)
|
rs368351103
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
|
rs199571473
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
NM_001035.3(RYR2):c.594C>T (p.Asn198=)
|
rs727504676
|
0.00005
|
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=)
|
rs201179281
|
0.00005
|
NM_001127453.2(GSDME):c.587C>T (p.Thr196Met)
|
rs183361282
|
0.00005
|
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)
|
rs201047984
|
0.00005
|
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)
|
rs372567331
|
0.00005
|
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=)
|
rs559356437
|
0.00005
|
NM_001145809.2(MYH14):c.3623C>T (p.Ala1208Val)
|
rs758560911
|
0.00005
|
NM_001146079.2(CLDN14):c.273G>A (p.Ser91=)
|
rs577393948
|
0.00005
|
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)
|
rs749163517
|
0.00005
|
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys)
|
rs746732835
|
0.00005
|
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=)
|
rs200082602
|
0.00005
|
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)
|
rs766439271
|
0.00005
|
NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met)
|
rs377056111
|
0.00005
|
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys)
|
rs375103237
|
0.00005
|
NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys)
|
rs397517827
|
0.00005
|
NM_001267550.2(TTN):c.14935+9C>T
|
rs544241749
|
0.00005
|
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln)
|
rs375652574
|
0.00005
|
NM_001267550.2(TTN):c.2280C>T (p.Val760=)
|
rs727505021
|
0.00005
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys)
|
rs144025230
|
0.00005
|
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)
|
rs370903846
|
0.00005
|
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)
|
rs140760859
|
0.00005
|
NM_001267550.2(TTN):c.47196G>C (p.Val15732=)
|
rs369979598
|
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.51739+14C>A
|
rs727505018
|
0.00005
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
NM_001267550.2(TTN):c.54381+6C>G
|
rs368265962
|
0.00005
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00005
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys)
|
rs376455983
|
0.00005
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)
|
rs367914610
|
0.00005
|
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)
|
rs372787601
|
0.00005
|
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)
|
rs376037252
|
0.00005
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)
|
rs727504857
|
0.00005
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)
|
rs371531675
|
0.00005
|
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=)
|
rs397516474
|
0.00005
|
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr)
|
rs777809121
|
0.00005
|
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe)
|
rs188793584
|
0.00005
|
NM_001378609.3(OTOGL):c.975del (p.Leu325fs)
|
rs766753922
|
0.00005
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
NM_001876.4(CPT1A):c.1163+1G>A
|
rs148059333
|
0.00005
|
NM_002294.3(LAMP2):c.158G>A (p.Arg53His)
|
rs397516735
|
0.00005
|
NM_002471.4(MYH6):c.1582-7C>T
|
rs374941865
|
0.00005
|
NM_002473.6(MYH9):c.2691C>T (p.Ala897=)
|
rs148883810
|
0.00005
|
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=)
|
rs531623930
|
0.00005
|
NM_002764.4(PRPS1):c.864+10A>G
|
rs200767443
|
0.00005
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
NM_002906.4(RDX):c.1282A>G (p.Ile428Val)
|
rs572843421
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)
|
rs148894066
|
0.00005
|
NM_004415.4(DSP):c.643G>A (p.Glu215Lys)
|
rs148095061
|
0.00005
|
NM_004415.4(DSP):c.727-10T>G
|
rs375327581
|
0.00005
|
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu)
|
rs199898869
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu)
|
rs375306400
|
0.00005
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
NM_012186.3(FOXE3):c.244A>G (p.Met82Val)
|
rs746531116
|
0.00005
|
NM_015404.4(WHRN):c.1677C>T (p.Asn559=)
|
rs138127153
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_016239.4(MYO15A):c.6046+1G>A
|
rs201978571
|
0.00005
|
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys)
|
rs142465521
|
0.00005
|
NM_022124.6(CDH23):c.5481G>T (p.Gly1827=)
|
rs375545532
|
0.00005
|
NM_024747.6(HPS6):c.455C>T (p.Ser152Leu)
|
rs369112226
|
0.00005
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00005
|
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg)
|
rs771737095
|
0.00005
|
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu)
|
rs771317730
|
0.00005
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779
|
0.00005
|
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn)
|
rs397517472
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_144573.4(NEXN):c.865-5G>A
|
rs727505353
|
0.00005
|
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu)
|
rs370899710
|
0.00005
|
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn)
|
rs727503712
|
0.00005
|
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr)
|
rs201104489
|
0.00005
|
NM_153700.2(STRC):c.4903G>T (p.Val1635Phe)
|
rs2915791
|
0.00005
|
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln)
|
rs147978393
|
0.00005
|
NM_194248.3(OTOF):c.3865-12G>A
|
rs374902867
|
0.00005
|
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly)
|
rs149527139
|
0.00005
|
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)
|
rs201847741
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)
|
rs774419705
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.2149-8C>G
|
rs397515950
|
0.00004
|
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu)
|
rs730880565
|
0.00004
|
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=)
|
rs397515980
|
0.00004
|
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)
|
rs371061770
|
0.00004
|
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=)
|
rs371842442
|
0.00004
|
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=)
|
rs397516064
|
0.00004
|
NM_000257.4(MYH7):c.12G>A (p.Ser4=)
|
rs45561941
|
0.00004
|
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn)
|
rs397516106
|
0.00004
|
NM_000257.4(MYH7):c.3993C>T (p.His1331=)
|
rs200288088
|
0.00004
|
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=)
|
rs587781085
|
0.00004
|
NM_000258.3(MYL3):c.246G>A (p.Ala82=)
|
rs368364468
|
0.00004
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
0.00004
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076
|
0.00004
|
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
|
rs781893704
|
0.00004
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg)
|
rs121917724
|
0.00004
|
NM_000335.5(SCN5A):c.1195C>T (p.Leu399=)
|
rs369253900
|
0.00004
|
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln)
|
rs41311087
|
0.00004
|
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=)
|
rs560476223
|
0.00004
|
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)
|
rs199473561
|
0.00004
|
NM_000335.5(SCN5A):c.954C>T (p.Asn318=)
|
rs372623225
|
0.00004
|
NM_000363.5(TNNI3):c.372+7C>T
|
rs367809676
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000363.5(TNNI3):c.6G>A (p.Ala2=)
|
rs397516361
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
NM_000527.5(LDLR):c.1359-5C>G
|
rs531005522
|
0.00004
|
NM_000601.6(HGF):c.2179C>T (p.Gln727Ter)
|
rs140790665
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
NM_001018116.2(CAVIN4):c.920G>C (p.Ser307Thr)
|
rs751703046
|
0.00004
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00004
|
NM_001035.3(RYR2):c.294+15G>A
|
rs750047302
|
0.00004
|
NM_001035.3(RYR2):c.345C>T (p.Tyr115=)
|
rs397516525
|
0.00004
|
NM_001035.3(RYR2):c.385-14T>C
|
rs372287944
|
0.00004
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln)
|
rs200850285
|
0.00004
|
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr)
|
rs774276326
|
0.00004
|
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter)
|
rs750797779
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=)
|
rs141884271
|
0.00004
|
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr)
|
rs143150260
|
0.00004
|
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr)
|
rs727503113
|
0.00004
|
NM_001134363.3(RBM20):c.1338-11G>A
|
rs372064165
|
0.00004
|
NM_001134363.3(RBM20):c.3574-6C>G
|
rs762069628
|
0.00004
|
NM_001134363.3(RBM20):c.441C>T (p.His147=)
|
rs397516619
|
0.00004
|
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)
|
rs587776991
|
0.00004
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00004
|
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)
|
rs727505196
|
0.00004
|
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)
|
rs530537991
|
0.00004
|
NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser)
|
rs377296133
|
0.00004
|
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)
|
rs727503660
|
0.00004
|
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)
|
rs201046911
|
0.00004
|
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)
|
rs202017278
|
0.00004
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00004
|
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)
|
rs727504579
|
0.00004
|
NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp)
|
rs727504736
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu)
|
rs200061856
|
0.00004
|
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)
|
rs191854953
|
0.00004
|
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu)
|
rs200598509
|
0.00004
|
NM_001267550.2(TTN):c.24227-15C>T
|
rs397517505
|
0.00004
|
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile)
|
rs397517507
|
0.00004
|
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)
|
rs727504515
|
0.00004
|
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp)
|
rs190600127
|
0.00004
|
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)
|
rs570608843
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser)
|
rs368531555
|
0.00004
|
NM_001267550.2(TTN):c.34379-14T>C
|
rs727505341
|
0.00004
|
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg)
|
rs541811273
|
0.00004
|
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly)
|
rs190461403
|
0.00004
|
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)
|
rs397517571
|
0.00004
|
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=)
|
rs147703145
|
0.00004
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00004
|
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)
|
rs397517593
|
0.00004
|
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=)
|
rs397517604
|
0.00004
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln)
|
rs186809500
|
0.00004
|
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)
|
rs397517636
|
0.00004
|
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)
|
rs397517640
|
0.00004
|
NM_001267550.2(TTN):c.597A>G (p.Val199=)
|
rs144214844
|
0.00004
|
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=)
|
rs143265948
|
0.00004
|
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)
|
rs375401971
|
0.00004
|
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)
|
rs374727686
|
0.00004
|
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)
|
rs368716894
|
0.00004
|
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)
|
rs374736305
|
0.00004
|
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)
|
rs372388682
|
0.00004
|
NM_001267550.2(TTN):c.67348+11G>C
|
rs587780982
|
0.00004
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00004
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His)
|
rs374712231
|
0.00004
|
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)
|
rs567446185
|
0.00004
|
NM_001267550.2(TTN):c.75969T>C (p.Val25323=)
|
rs368759398
|
0.00004
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)
|
rs368270588
|
0.00004
|
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu)
|
rs199670463
|
0.00004
|
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)
|
rs557628408
|
0.00004
|
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)
|
rs397517736
|
0.00004
|
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=)
|
rs376289479
|
0.00004
|
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)
|
rs727504439
|
0.00004
|
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)
|
rs727503545
|
0.00004
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys)
|
rs55915651
|
0.00004
|
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly)
|
rs55634230
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
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_001289808.2(CRYAB):c.60C>T (p.Pro20=)
|
rs4252582
|
0.00004
|
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter)
|
rs772430523
|
0.00004
|
NM_001292063.2(OTOG):c.8472T>C (p.Asp2824=)
|
rs940623349
|
0.00004
|
NM_001330691.3(CEP78):c.2107+10C>G
|
rs374257343
|
0.00004
|
NM_001376256.1(CRYM):c.343A>G (p.Ile115Val)
|
rs201490017
|
0.00004
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)
|
rs760068474
|
0.00004
|
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)
|
rs373453298
|
0.00004
|
NM_001384474.1(LOXHD1):c.3061+8G>T
|
rs764128579
|
0.00004
|
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=)
|
rs181548456
|
0.00004
|
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=)
|
rs542483546
|
0.00004
|
NM_001614.5(ACTG1):c.81C>T (p.Pro27=)
|
rs11549230
|
0.00004
|
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter)
|
rs201045495
|
0.00004
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
NM_001943.5(DSG2):c.1911C>T (p.Cys637=)
|
rs201654341
|
0.00004
|
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)
|
rs201845396
|
0.00004
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
NM_002230.4(JUP):c.1331G>A (p.Arg444His)
|
rs369507567
|
0.00004
|
NM_002230.4(JUP):c.945C>T (p.Leu315=)
|
rs146804895
|
0.00004
|
NM_002294.3(LAMP2):c.1093+2589C>T
|
rs377303143
|
0.00004
|
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile)
|
rs141574558
|
0.00004
|
NM_002294.3(LAMP2):c.65-13T>A
|
rs727503121
|
0.00004
|
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr)
|
rs556536964
|
0.00004
|
NM_002473.6(MYH9):c.1686G>A (p.Leu562=)
|
rs199506577
|
0.00004
|
NM_002473.6(MYH9):c.2714G>A (p.Arg905His)
|
rs727503289
|
0.00004
|
NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr)
|
rs532156048
|
0.00004
|
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln)
|
rs137924205
|
0.00004
|
NM_002473.6(MYH9):c.3915G>A (p.Ala1305=)
|
rs183685723
|
0.00004
|
NM_002524.5(NRAS):c.291-8G>A
|
rs376187980
|
0.00004
|
NM_002755.4(MAP2K1):c.439-8G>A
|
rs747709090
|
0.00004
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)
|
rs150022335
|
0.00004
|
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)
|
rs28939717
|
0.00004
|
NM_004006.3(DMD):c.1159A>G (p.Met387Val)
|
rs770202940
|
0.00004
|
NM_004006.3(DMD):c.1503A>G (p.Glu501=)
|
rs770464589
|
0.00004
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
NM_004006.3(DMD):c.4275A>G (p.Glu1425=)
|
rs72468647
|
0.00004
|
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu)
|
rs144717862
|
0.00004
|
NM_004006.3(DMD):c.6118-13T>G
|
rs750033728
|
0.00004
|
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala)
|
rs181284440
|
0.00004
|
NM_004086.3(COCH):c.971G>A (p.Arg324Gln)
|
rs748731866
|
0.00004
|
NM_004230.4(S1PR2):c.955G>A (p.Gly319Arg)
|
rs139097585
|
0.00004
|
NM_004281.4(BAG3):c.181-15C>T
|
rs397516882
|
0.00004
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)
|
rs550818559
|
0.00004
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
NM_004447.6(EPS8):c.646C>G (p.Pro216Ala)
|
rs201875630
|
0.00004
|
NM_004568.6(SERPINB6):c.460T>G (p.Ser154Ala)
|
rs727503416
|
0.00004
|
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp)
|
rs397507497
|
0.00004
|
NM_005343.4(HRAS):c.363T>C (p.Ala121=)
|
rs146440188
|
0.00004
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val)
|
rs760917490
|
0.00004
|
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val)
|
rs71524356
|
0.00004
|
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)
|
rs377539343
|
0.00004
|
NM_006005.3(WFS1):c.375C>T (p.Thr125=)
|
rs762324196
|
0.00004
|
NM_006231.4(POLE):c.6135C>T (p.Pro2045=)
|
rs368662693
|
0.00004
|
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys)
|
rs146198369
|
0.00004
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)
|
rs397517231
|
0.00004
|
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter)
|
rs370907055
|
0.00004
|
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)
|
rs144770680
|
0.00004
|
NM_015404.4(WHRN):c.1417-8G>A
|
rs202228471
|
0.00004
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00004
|
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn)
|
rs28942109
|
0.00004
|
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)
|
rs397517268
|
0.00004
|
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)
|
rs764162597
|
0.00004
|
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=)
|
rs370047914
|
0.00004
|
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala)
|
rs183761594
|
0.00004
|
NM_022114.4(PRDM16):c.2940-15G>A
|
rs538723120
|
0.00004
|
NM_022124.6(CDH23):c.1450-10G>A
|
rs751220612
|
0.00004
|
NM_022124.6(CDH23):c.1584C>T (p.Arg528=)
|
rs397517309
|
0.00004
|
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)
|
rs397517310
|
0.00004
|
NM_022124.6(CDH23):c.5713-9A>G
|
rs397517343
|
0.00004
|
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)
|
rs537971045
|
0.00004
|
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=)
|
rs568741210
|
0.00004
|
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)
|
rs201094625
|
0.00004
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg)
|
rs397517384
|
0.00004
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)
|
rs752143061
|
0.00004
|
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)
|
rs397517394
|
0.00004
|
NM_024422.6(DSC2):c.2208C>T (p.Asn736=)
|
rs727504534
|
0.00004
|
NM_024915.4(GRHL2):c.1348T>A (p.Ser450Thr)
|
rs141136371
|
0.00004
|
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)
|
rs117945277
|
0.00004
|
NM_030662.4(MAP2K2):c.93-6C>T
|
rs727504836
|
0.00004
|
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser)
|
rs576429729
|
0.00004
|
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)
|
rs376376418
|
0.00004
|
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)
|
rs766007827
|
0.00004
|
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)
|
rs200974394
|
0.00004
|
NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr)
|
rs201999622
|
0.00004
|
NM_032119.4(ADGRV1):c.854G>A (p.Arg285His)
|
rs397517439
|
0.00004
|
NM_032119.4(ADGRV1):c.8591C>T (p.Thr2864Met)
|
rs397517440
|
0.00004
|
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His)
|
rs531222847
|
0.00004
|
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn)
|
rs727503364
|
0.00004
|
NM_033118.4(MYLK2):c.417C>T (p.Ala139=)
|
rs560951755
|
0.00004
|
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met)
|
rs727504591
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
0.00004
|
NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu)
|
rs763995767
|
0.00004
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
NM_133261.3(GIPC3):c.213C>A (p.Ile71=)
|
rs876657467
|
0.00004
|
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys)
|
rs776361113
|
0.00004
|
NM_138691.3(TMC1):c.1567-14T>G
|
rs727503485
|
0.00004
|
NM_144573.4(NEXN):c.1065T>C (p.Asp355=)
|
rs369897647
|
0.00004
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_144672.4(OTOA):c.1807G>T (p.Val603Phe)
|
rs775686301
|
0.00004
|
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys)
|
rs782088056
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_172351.3(CD46):c.286+2T>G
|
rs769742294
|
0.00004
|
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg)
|
rs111033434
|
0.00004
|
NM_174878.3(CLRN1):c.254-2054G>C
|
rs185457278
|
0.00004
|
NM_194248.3(OTOF):c.1317T>C (p.Asn439=)
|
rs201171459
|
0.00004
|
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp)
|
rs368155547
|
0.00004
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn)
|
rs111033515
|
0.00004
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His)
|
rs374449657
|
0.00004
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr)
|
rs758614136
|
0.00004
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
rs80358833
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000169.3(GLA):c.639+6A>C
|
rs200096940
|
0.00003
|
NM_000169.3(GLA):c.714T>C (p.Ser238=)
|
rs397515872
|
0.00003
|
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys)
|
rs1402178514
|
0.00003
|
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser)
|
rs199473644
|
0.00003
|
NM_000246.4(CIITA):c.2888+1G>A
|
rs372826934
|
0.00003
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000256.3(MYBPC3):c.1790+7G>A
|
rs374852831
|
0.00003
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000256.3(MYBPC3):c.2308+12C>T
|
rs727505335
|
0.00003
|
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile)
|
rs542350927
|
0.00003
|
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)
|
rs397516069
|
0.00003
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg)
|
rs121913632
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)
|
rs727503278
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr)
|
rs201046979
|
0.00003
|
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)
|
rs782726270
|
0.00003
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)
|
rs376743356
|
0.00003
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val)
|
rs574917232
|
0.00003
|
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)
|
rs572959359
|
0.00003
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000335.5(SCN5A):c.1188C>T (p.Val396=)
|
rs749683415
|
0.00003
|
NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=)
|
rs372132916
|
0.00003
|
NM_000335.5(SCN5A):c.393-1C>T
|
rs759235726
|
0.00003
|
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)
|
rs200034939
|
0.00003
|
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)
|
rs61753033
|
0.00003
|
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)
|
rs374618872
|
0.00003
|
NM_000395.3(CSF2RB):c.1107C>G (p.Asp369Glu)
|
rs139685237
|
0.00003
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
NM_000441.2(SLC26A4):c.1545-7del
|
rs727503427
|
0.00003
|
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=)
|
rs573894071
|
0.00003
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000546.6(TP53):c.188C>G (p.Ala63Gly)
|
rs372201428
|
0.00003
|
NM_000546.6(TP53):c.903A>G (p.Pro301=)
|
rs72661120
|
0.00003
|
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)
|
rs137854406
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)
|
rs368110732
|
0.00003
|
NM_001018005.2(TPM1):c.375-3C>T
|
rs202228866
|
0.00003
|
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)
|
rs397516395
|
0.00003
|
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)
|
rs397516537
|
0.00003
|
NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val)
|
rs781135139
|
0.00003
|
NM_001042492.3(NF1):c.*4T>C
|
rs201044568
|
0.00003
|
NM_001042702.5(PJVK):c.212-12C>A
|
rs199967536
|
0.00003
|
NM_001103.4(ACTN2):c.-3G>T
|
rs201920417
|
0.00003
|
NM_001103.4(ACTN2):c.18C>T (p.Pro6=)
|
rs368367224
|
0.00003
|
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp)
|
rs782319667
|
0.00003
|
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr)
|
rs576711704
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln)
|
rs377014092
|
0.00003
|
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu)
|
rs773916549
|
0.00003
|
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=)
|
rs766745103
|
0.00003
|
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His)
|
rs371528685
|
0.00003
|
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)
|
rs397517788
|
0.00003
|
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)
|
rs727504540
|
0.00003
|
NM_001267550.2(TTN):c.10682A>G (p.Gln3561Arg)
|
rs727503676
|
0.00003
|
NM_001267550.2(TTN):c.11756C>A (p.Thr3919Asn)
|
rs727503661
|
0.00003
|
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val)
|
rs727503659
|
0.00003
|
NM_001267550.2(TTN):c.1398+5G>A
|
rs542965530
|
0.00003
|
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=)
|
rs375032616
|
0.00003
|
NM_001267550.2(TTN):c.19054A>G (p.Arg6352Gly)
|
rs569003242
|
0.00003
|
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)
|
rs751902051
|
0.00003
|
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)
|
rs397517492
|
0.00003
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)
|
rs397517493
|
0.00003
|
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)
|
rs374408615
|
0.00003
|
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)
|
rs397517502
|
0.00003
|
NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys)
|
rs149155733
|
0.00003
|
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)
|
rs549604128
|
0.00003
|
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)
|
rs370962244
|
0.00003
|
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)
|
rs200325324
|
0.00003
|
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg)
|
rs372820178
|
0.00003
|
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)
|
rs367901929
|
0.00003
|
NM_001267550.2(TTN):c.32555-12G>T
|
rs397517540
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)
|
rs762128685
|
0.00003
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
NM_001267550.2(TTN):c.49366C>T (p.Arg16456Cys)
|
rs727504986
|
0.00003
|
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)
|
rs727505248
|
0.00003
|
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln)
|
rs72677250
|
0.00003
|
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile)
|
rs567781604
|
0.00003
|
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn)
|
rs367799017
|
0.00003
|
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)
|
rs200864020
|
0.00003
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)
|
rs374203813
|
0.00003
|
NM_001267550.2(TTN):c.60975C>T (p.Ile20325=)
|
rs727505195
|
0.00003
|
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr)
|
rs558670891
|
0.00003
|
NM_001267550.2(TTN):c.65371G>A (p.Gly21791Ser)
|
rs370878527
|
0.00003
|
NM_001267550.2(TTN):c.71981C>T (p.Ala23994Val)
|
rs772886864
|
0.00003
|
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys)
|
rs397517701
|
0.00003
|
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)
|
rs374022393
|
0.00003
|
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)
|
rs376942948
|
0.00003
|
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)
|
rs727504923
|
0.00003
|
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys)
|
rs541040798
|
0.00003
|
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met)
|
rs727503543
|
0.00003
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=)
|
rs141431591
|
0.00003
|
NM_001267550.2(TTN):c.9701A>G (p.Asn3234Ser)
|
rs397517791
|
0.00003
|
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met)
|
rs191708454
|
0.00003
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=)
|
rs200809116
|
0.00003
|
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)
|
rs104893621
|
0.00003
|
NM_001330.5(CTF1):c.145-10G>A
|
rs397516645
|
0.00003
|
NM_001354604.2(MITF):c.1179+4C>T
|
rs749869303
|
0.00003
|
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
|
rs188119157
|
0.00003
|
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val)
|
rs141749060
|
0.00003
|
NM_001614.5(ACTG1):c.909C>T (p.Thr303=)
|
rs187127467
|
0.00003
|
NM_001814.6(CTSC):c.815G>A (p.Arg272His)
|
rs587777534
|
0.00003
|
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn)
|
rs370509593
|
0.00003
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
NM_002230.4(JUP):c.66C>T (p.Tyr22=)
|
rs782575179
|
0.00003
|
NM_002294.3(LAMP2):c.276C>T (p.Phe92=)
|
rs754577706
|
0.00003
|
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)
|
rs138374063
|
0.00003
|
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp)
|
rs753444140
|
0.00003
|
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)
|
rs727503236
|
0.00003
|
NM_002471.4(MYH6):c.3860-15T>G
|
rs200883903
|
0.00003
|
NM_002473.6(MYH9):c.193G>A (p.Val65Met)
|
rs377348805
|
0.00003
|
NM_002473.6(MYH9):c.468C>T (p.Thr156=)
|
rs727503293
|
0.00003
|
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp)
|
rs727503281
|
0.00003
|
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)
|
rs374061873
|
0.00003
|
NM_002691.4(POLD1):c.758+5G>A
|
rs760003191
|
0.00003
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=)
|
rs147489724
|
0.00003
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)
|
rs727503381
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_003803.4(MYOM1):c.3038C>T (p.Ala1013Val)
|
rs557671408
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp)
|
rs548032105
|
0.00003
|
NM_004333.6(BRAF):c.1068A>G (p.Gln356=)
|
rs143335467
|
0.00003
|
NM_004333.6(BRAF):c.1694+14G>A
|
rs184144181
|
0.00003
|
NM_004333.6(BRAF):c.2136C>T (p.Ala712=)
|
rs377165711
|
0.00003
|
NM_004333.6(BRAF):c.708C>T (p.Asn236=)
|
rs138333692
|
0.00003
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln)
|
rs555093382
|
0.00003
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00003
|
NM_006005.3(WFS1):c.143C>T (p.Ala48Val)
|
rs397517195
|
0.00003
|
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met)
|
rs760280308
|
0.00003
|
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)
|
rs142428158
|
0.00003
|
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)
|
rs144888979
|
0.00003
|
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala)
|
rs952211002
|
0.00003
|
NM_006383.4(CIB2):c.300_309del (p.Glu100fs)
|
rs765741202
|
0.00003
|
NM_006393.3(NEBL):c.153+15T>G
|
rs397517204
|
0.00003
|
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)
|
rs747377284
|
0.00003
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
NM_007078.3(LDB3):c.897-10G>A
|
rs77304928
|
0.00003
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp)
|
rs370053420
|
0.00003
|
NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr)
|
rs939028046
|
0.00003
|
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln)
|
rs780165350
|
0.00003
|
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp)
|
rs778098806
|
0.00003
|
NM_017780.4(CHD7):c.6468C>T (p.Val2156=)
|
rs777858802
|
0.00003
|
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met)
|
rs374911318
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val)
|
rs727504914
|
0.00003
|
NM_022124.6(CDH23):c.429+4G>A
|
rs397517328
|
0.00003
|
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)
|
rs111033490
|
0.00003
|
NM_022124.6(CDH23):c.5051G>C (p.Arg1684Pro)
|
rs111033475
|
0.00003
|
NM_022124.6(CDH23):c.535G>A (p.Ala179Thr)
|
rs371422466
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_024009.3(GJB3):c.589G>A (p.Val197Ile)
|
rs376506263
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=)
|
rs374807671
|
0.00003
|
NM_032119.4(ADGRV1):c.10339G>A (p.Glu3447Lys)
|
rs397517419
|
0.00003
|
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu)
|
rs200957385
|
0.00003
|
NM_032119.4(ADGRV1):c.13287T>C (p.Tyr4429=)
|
rs372799791
|
0.00003
|
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met)
|
rs375258567
|
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.16439G>A (p.Ser5480Asn)
|
rs772117132
|
0.00003
|
NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu)
|
rs376863164
|
0.00003
|
NM_032119.4(ADGRV1):c.5623G>A (p.Gly1875Arg)
|
rs727503075
|
0.00003
|
NM_032119.4(ADGRV1):c.7907A>G (p.Asp2636Gly)
|
rs770468449
|
0.00003
|
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile)
|
rs764987437
|
0.00003
|
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=)
|
rs144488384
|
0.00003
|
NM_057176.3(BSND):c.917T>C (p.Leu306Pro)
|
rs139049536
|
0.00003
|
NM_080680.3(COL11A2):c.4190T>G (p.Leu1397Arg)
|
rs571981688
|
0.00003
|
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met)
|
rs747064765
|
0.00003
|
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn)
|
rs749491943
|
0.00003
|
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys)
|
rs148443938
|
0.00003
|
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val)
|
rs140778310
|
0.00003
|
NM_145309.6(LRRC51):c.115C>T (p.Arg39Ter)
|
rs780299621
|
0.00003
|
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu)
|
rs747675437
|
0.00003
|
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala)
|
rs200779709
|
0.00003
|
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser)
|
rs754834213
|
0.00003
|
NM_170707.4(LMNA):c.78C>T (p.Ile26=)
|
rs373721390
|
0.00003
|
NM_194248.3(OTOF):c.1713G>A (p.Leu571=)
|
rs397517935
|
0.00003
|
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn)
|
rs147657016
|
0.00003
|
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln)
|
rs373681505
|
0.00003
|
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys)
|
rs745399096
|
0.00003
|
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr)
|
rs772763082
|
0.00003
|
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His)
|
rs200283244
|
0.00003
|
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=)
|
rs199854846
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)
|
rs397517984
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln)
|
rs372436408
|
0.00003
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00003
|
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His)
|
rs778272177
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile)
|
rs397518050
|
0.00003
|
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)
|
rs79281338
|
0.00002
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu)
|
rs748745776
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000069.3(CACNA1S):c.1948+1G>A
|
rs745712829
|
0.00002
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000169.3(GLA):c.320A>G (p.Gln107Arg)
|
rs727505060
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
NM_000219.6(KCNE1):c.174C>G (p.Thr58=)
|
rs727503101
|
0.00002
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
0.00002
|
NM_000256.3(MYBPC3):c.1458-6G>A
|
rs375347534
|
0.00002
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
0.00002
|
NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=)
|
rs397515951
|
0.00002
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)
|
rs397516063
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)
|
rs201012865
|
0.00002
|
NM_000257.4(MYH7):c.354G>A (p.Ser118=)
|
rs368925624
|
0.00002
|
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)
|
rs397516182
|
0.00002
|
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His)
|
rs397516194
|
0.00002
|
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln)
|
rs797045097
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)
|
rs187073962
|
0.00002
|
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)
|
rs200728597
|
0.00002
|
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
|
rs397516261
|
0.00002
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)
|
rs369997614
|
0.00002
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
NM_000260.4(MYO7A):c.3583G>A (p.Val1195Met)
|
rs781958107
|
0.00002
|
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)
|
rs369458838
|
0.00002
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399
|
0.00002
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)
|
rs111033284
|
0.00002
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)
|
rs199473142
|
0.00002
|
NM_000335.5(SCN5A):c.3408C>T (p.Ser1136=)
|
rs553231555
|
0.00002
|
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=)
|
rs145731678
|
0.00002
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser)
|
rs727504425
|
0.00002
|
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter)
|
rs201728041
|
0.00002
|
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
|
rs730880940
|
0.00002
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)
|
rs111033240
|
0.00002
|
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val)
|
rs372875358
|
0.00002
|
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter)
|
rs746273959
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
0.00002
|
NM_000548.5(TSC2):c.5260-12C>T
|
rs769264472
|
0.00002
|
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=)
|
rs201469656
|
0.00002
|
NM_001039141.3(TRIOBP):c.6575+14G>A
|
rs577534147
|
0.00002
|
NM_001039876.3(SYNE4):c.616C>T (p.Leu206=)
|
rs771897813
|
0.00002
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=)
|
rs1015435132
|
0.00002
|
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs)
|
rs1298330895
|
0.00002
|
NM_001103.4(ACTN2):c.762C>T (p.His254=)
|
rs397516584
|
0.00002
|
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)
|
rs199775294
|
0.00002
|
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser)
|
rs1479765434
|
0.00002
|
NM_001145809.2(MYH14):c.1251G>A (p.Thr417=)
|
rs759132835
|
0.00002
|
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys)
|
rs397516628
|
0.00002
|
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val)
|
rs727503225
|
0.00002
|
NM_001195518.2(MICU1):c.735+1G>A
|
rs369915689
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile)
|
rs727503679
|
0.00002
|
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)
|
rs727504677
|
0.00002
|
NM_001267550.2(TTN):c.103859G>A (p.Arg34620His)
|
rs367927066
|
0.00002
|
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)
|
rs727504491
|
0.00002
|
NM_001267550.2(TTN):c.107134A>C (p.Asn35712His)
|
rs727504949
|
0.00002
|
NM_001267550.2(TTN):c.13499A>G (p.Lys4500Arg)
|
rs727503655
|
0.00002
|
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr)
|
rs375417155
|
0.00002
|
NM_001267550.2(TTN):c.1851A>C (p.Thr617=)
|
rs727504530
|
0.00002
|
NM_001267550.2(TTN):c.21605C>G (p.Ser7202Cys)
|
rs747376234
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met)
|
rs371496970
|
0.00002
|
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln)
|
rs397517520
|
0.00002
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)
|
rs398124450
|
0.00002
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
NM_001267550.2(TTN):c.47887A>G (p.Met15963Val)
|
rs397517590
|
0.00002
|
NM_001267550.2(TTN):c.49701A>G (p.Ser16567=)
|
rs369646977
|
0.00002
|
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)
|
rs727503693
|
0.00002
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)
|
rs727504490
|
0.00002
|
NM_001267550.2(TTN):c.63558G>A (p.Val21186=)
|
rs200261892
|
0.00002
|
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)
|
rs397517657
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)
|
rs397517693
|
0.00002
|
NM_001267550.2(TTN):c.6508+15T>C
|
rs747722195
|
0.00002
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)
|
rs563233842
|
0.00002
|
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)
|
rs727503564
|
0.00002
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)
|
rs565784637
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys)
|
rs397517702
|
0.00002
|
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)
|
rs397517703
|
0.00002
|
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)
|
rs377506142
|
0.00002
|
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile)
|
rs746222222
|
0.00002
|
NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile)
|
rs727503551
|
0.00002
|
NM_001267550.2(TTN):c.9306-4A>G
|
rs757164431
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
0.00002
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
NM_001292063.2(OTOG):c.3526-12G>C
|
rs749205983
|
0.00002
|
NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp)
|
rs746861398
|
0.00002
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)
|
rs727502973
|
0.00002
|
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly)
|
rs12422945
|
0.00002
|
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val)
|
rs774172292
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384474.1(LOXHD1):c.4680C>T (p.Cys1560=)
|
rs397517863
|
0.00002
|
NM_001393500.2(TOMT):c.259+4A>C
|
rs545947177
|
0.00002
|
NM_001943.5(DSG2):c.1914A>G (p.Gly638=)
|
rs200395484
|
0.00002
|
NM_002230.4(JUP):c.351C>T (p.Ala117=)
|
rs397517300
|
0.00002
|
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
|
rs782058451
|
0.00002
|
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg)
|
rs727504953
|
0.00002
|
NM_002471.4(MYH6):c.5439G>A (p.Gln1813=)
|
rs200854143
|
0.00002
|
NM_002473.6(MYH9):c.491-7G>A
|
rs200059134
|
0.00002
|
NM_002473.6(MYH9):c.5853G>A (p.Ala1951=)
|
rs746116612
|
0.00002
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)
|
rs111033203
|
0.00002
|
NM_004086.3(COCH):c.271C>T (p.Arg91Ter)
|
rs540895576
|
0.00002
|
NM_004333.6(BRAF):c.*7T>C
|
rs727502903
|
0.00002
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His)
|
rs369452147
|
0.00002
|
NM_005422.4(TECTA):c.487-7C>G
|
rs368627411
|
0.00002
|
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter)
|
rs760574657
|
0.00002
|
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)
|
rs200856070
|
0.00002
|
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser)
|
rs757213444
|
0.00002
|
NM_006005.3(WFS1):c.1290G>A (p.Ser430=)
|
rs752100338
|
0.00002
|
NM_006012.4(CLPP):c.15A>G (p.Ile5Met)
|
rs763687804
|
0.00002
|
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met)
|
rs368364666
|
0.00002
|
NM_006393.3(NEBL):c.1963-13C>T
|
rs727504904
|
0.00002
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
NM_014000.3(VCL):c.2746-14C>T
|
rs367598954
|
0.00002
|
NM_015340.4(LARS2):c.2404+4C>T
|
rs199693918
|
0.00002
|
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile)
|
rs370178817
|
0.00002
|
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala)
|
rs556585167
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys)
|
rs878854411
|
0.00002
|
NM_016239.4(MYO15A):c.4483-6G>A
|
rs771397877
|
0.00002
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
NM_016239.4(MYO15A):c.8341-2A>C
|
rs778404517
|
0.00002
|
NM_017668.3(NDE1):c.130C>T (p.Arg44Ter)
|
rs747020521
|
0.00002
|
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)
|
rs774508076
|
0.00002
|
NM_019616.4(F7):c.1158T>G (p.His386Gln)
|
rs121964936
|
0.00002
|
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)
|
rs554938323
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser)
|
rs532872056
|
0.00002
|
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp)
|
rs397517391
|
0.00002
|
NM_024422.6(DSC2):c.1680G>A (p.Thr560=)
|
rs567202599
|
0.00002
|
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter)
|
rs397517395
|
0.00002
|
NM_030662.4(MAP2K2):c.450+13G>A
|
rs572847821
|
0.00002
|
NM_030662.4(MAP2K2):c.450+14G>A
|
rs397517414
|
0.00002
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662
|
0.00002
|
NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val)
|
rs367826825
|
0.00002
|
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile)
|
rs768299251
|
0.00002
|
NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)
|
rs727504831
|
0.00002
|
NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala)
|
rs374609813
|
0.00002
|
NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His)
|
rs779520200
|
0.00002
|
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)
|
rs376900429
|
0.00002
|
NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala)
|
rs376559614
|
0.00002
|
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met)
|
rs727505056
|
0.00002
|
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg)
|
rs727505041
|
0.00002
|
NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr)
|
rs757910491
|
0.00002
|
NM_032578.4(MYPN):c.3768G>A (p.Ser1256=)
|
rs533708375
|
0.00002
|
NM_080680.3(COL11A2):c.3529-3C>T
|
rs753183777
|
0.00002
|
NM_080680.3(COL11A2):c.3959G>A (p.Arg1320Gln)
|
rs372143434
|
0.00002
|
NM_080680.3(COL11A2):c.4751-9A>G
|
rs555680585
|
0.00002
|
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)
|
rs752823488
|
0.00002
|
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)
|
rs201399429
|
0.00002
|
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser)
|
rs397517834
|
0.00002
|
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro)
|
rs138527651
|
0.00002
|
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu)
|
rs377581131
|
0.00002
|
NM_147196.3(TMIE):c.211+5G>A
|
rs375470385
|
0.00002
|
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)
|
rs397517890
|
0.00002
|
NM_173477.5(USH1G):c.678C>A (p.Gly226=)
|
rs201525855
|
0.00002
|
NM_181458.4(PAX3):c.572T>C (p.Ile191Thr)
|
rs199560470
|
0.00002
|
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His)
|
rs150782952
|
0.00002
|
NM_194248.3(OTOF):c.322A>G (p.Ile108Val)
|
rs727505189
|
0.00002
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp)
|
rs727504985
|
0.00002
|
NM_194248.3(OTOF):c.5713-2A>G
|
rs111033455
|
0.00002
|
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)
|
rs397517966
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr)
|
rs759365458
|
0.00002
|
NM_000038.6(APC):c.1743+6T>C
|
rs766973462
|
0.00001
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
NM_000038.6(APC):c.933+5C>A
|
rs573528468
|
0.00001
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)
|
rs397515869
|
0.00001
|
NM_000169.3(GLA):c.801+14C>T
|
rs200744672
|
0.00001
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)
|
rs587779285
|
0.00001
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu)
|
rs63750849
|
0.00001
|
NM_000251.3(MSH2):c.645+3A>G
|
rs587779168
|
0.00001
|
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00001
|
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser)
|
rs397515918
|
0.00001
|
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=)
|
rs397515957
|
0.00001
|
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn)
|
rs727503185
|
0.00001
|
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr)
|
rs727504945
|
0.00001
|
NM_000256.3(MYBPC3):c.2995-5C>G
|
rs376083315
|
0.00001
|
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)
|
rs397516018
|
0.00001
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr)
|
rs397516053
|
0.00001
|
NM_000257.4(MYH7):c.1083C>T (p.Asn361=)
|
rs145091844
|
0.00001
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00001
|
NM_000257.4(MYH7):c.1358G>A (p.Arg453His)
|
rs397516101
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)
|
rs397516119
|
0.00001
|
NM_000257.4(MYH7):c.1700G>A (p.Arg567His)
|
rs377491278
|
0.00001
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
NM_000257.4(MYH7):c.2168G>A (p.Arg723His)
|
rs397516135
|
0.00001
|
NM_000257.4(MYH7):c.2472C>T (p.Val824=)
|
rs397516150
|
0.00001
|
NM_000257.4(MYH7):c.2499C>T (p.Tyr833=)
|
rs397516151
|
0.00001
|
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)
|
rs397516157
|
0.00001
|
NM_000257.4(MYH7):c.2573G>A (p.Arg858His)
|
rs2856897
|
0.00001
|
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)
|
rs397516160
|
0.00001
|
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)
|
rs397516179
|
0.00001
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
NM_000257.4(MYH7):c.343T>C (p.Tyr115His)
|
rs397516183
|
0.00001
|
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)
|
rs727503246
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000257.4(MYH7):c.4326G>A (p.Leu1442=)
|
rs727503243
|
0.00001
|
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala)
|
rs397516218
|
0.00001
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
NM_000257.4(MYH7):c.4644+3G>A
|
rs397516226
|
0.00001
|
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=)
|
rs151113658
|
0.00001
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
|
rs267606910
|
0.00001
|
NM_000258.3(MYL3):c.281G>A (p.Arg94His)
|
rs199474703
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=)
|
rs970183279
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)
|
rs781988557
|
0.00001
|
NM_000260.4(MYO7A):c.359G>A (p.Arg120His)
|
rs369493667
|
0.00001
|
NM_000260.4(MYO7A):c.4065del (p.His1355fs)
|
rs111033202
|
0.00001
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)
|
rs369368181
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000283.4(PDE6B):c.1920+2T>C
|
rs763996159
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)
|
rs779687673
|
0.00001
|
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His)
|
rs397517951
|
0.00001
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)
|
rs199473584
|
0.00001
|
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)
|
rs199473177
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)
|
rs45514691
|
0.00001
|
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=)
|
rs397517957
|
0.00001
|
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=)
|
rs538707712
|
0.00001
|
NM_000335.5(SCN5A):c.656G>A (p.Arg219His)
|
rs878855296
|
0.00001
|
NM_000337.6(SGCD):c.193-12G>T
|
rs727503421
|
0.00001
|
NM_000337.6(SGCD):c.45T>A (p.Pro15=)
|
rs727505092
|
0.00001
|
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)
|
rs760549861
|
0.00001
|
NM_000363.5(TNNI3):c.336C>T (p.Tyr112=)
|
rs559450042
|
0.00001
|
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)
|
rs397516348
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)
|
rs727504285
|
0.00001
|
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys)
|
rs727504243
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000371.4(TTR):c.337-3T>C
|
rs774027595
|
0.00001
|
NM_000384.3(APOB):c.13154G>A (p.Arg4385His)
|
rs533755016
|
0.00001
|
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)
|
rs1293971731
|
0.00001
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-14A>G
|
rs1453109539
|
0.00001
|
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro)
|
rs727504303
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)
|
rs267606755
|
0.00001
|
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)
|
rs121909199
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000540.3(RYR1):c.6549-8G>A
|
rs756593088
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)
|
rs193922829
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.885T>C (p.Pro295=)
|
rs200073907
|
0.00001
|
NM_000685.5(AGTR1):c.110dup (p.Ile38fs)
|
rs387906577
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)
|
rs535581825
|
0.00001
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
NM_001010892.3(RSPH4A):c.*8A>G
|
rs575857124
|
0.00001
|
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)
|
rs199476316
|
0.00001
|
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr)
|
rs397516382
|
0.00001
|
NM_001018005.2(TPM1):c.82G>C (p.Asp28His)
|
rs397516391
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
NM_001035.3(RYR2):c.11326-4A>G
|
rs727504876
|
0.00001
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)
|
rs397516526
|
0.00001
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
NM_001035.3(RYR2):c.463+6C>T
|
rs397516533
|
0.00001
|
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met)
|
rs727503158
|
0.00001
|
NM_001038603.3(MARVELD2):c.1147-2A>G
|
rs763062791
|
0.00001
|
NM_001039141.3(TRIOBP):c.-3A>G
|
rs779160270
|
0.00001
|
NM_001039876.3(SYNE4):c.972+5G>A
|
rs369269989
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
NM_001079668.3(NKX2-1):c.201G>C (p.Pro67=)
|
rs747491554
|
0.00001
|
NM_001103.4(ACTN2):c.1422C>T (p.His474=)
|
rs1282303942
|
0.00001
|
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn)
|
rs781919095
|
0.00001
|
NM_001105206.3(LAMA4):c.486T>C (p.Ala162=)
|
rs397516734
|
0.00001
|
NM_001122659.3(EDNRB):c.1194+15C>T
|
rs886050325
|
0.00001
|
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu)
|
rs770886605
|
0.00001
|
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=)
|
rs200001131
|
0.00001
|
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln)
|
rs563500712
|
0.00001
|
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys)
|
rs267607002
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser)
|
rs537153044
|
0.00001
|
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=)
|
rs565952913
|
0.00001
|
NM_001199107.2(TBC1D24):c.*2G>A
|
rs780054979
|
0.00001
|
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)
|
rs761934676
|
0.00001
|
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=)
|
rs369318229
|
0.00001
|
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr)
|
rs201018751
|
0.00001
|
NM_001256317.3(TMPRSS3):c.446+4A>T
|
rs376253981
|
0.00001
|
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg)
|
rs372526764
|
0.00001
|
NM_001256317.3(TMPRSS3):c.783-13C>A
|
rs140443203
|
0.00001
|
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)
|
rs574420969
|
0.00001
|
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val)
|
rs779464128
|
0.00001
|
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg)
|
rs727504465
|
0.00001
|
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)
|
rs397517825
|
0.00001
|
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=)
|
rs565546452
|
0.00001
|
NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile)
|
rs727505221
|
0.00001
|
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)
|
rs373963067
|
0.00001
|
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)
|
rs727504776
|
0.00001
|
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg)
|
rs876658047
|
0.00001
|
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr)
|
rs370728359
|
0.00001
|
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=)
|
rs753546095
|
0.00001
|
NM_001267550.2(TTN):c.23939-13C>A
|
rs876658045
|
0.00001
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00001
|
NM_001267550.2(TTN):c.27328+5G>A
|
rs397517521
|
0.00001
|
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn)
|
rs397517523
|
0.00001
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
NM_001267550.2(TTN):c.28653G>C (p.Leu9551=)
|
rs876657601
|
0.00001
|
NM_001267550.2(TTN):c.30022A>G (p.Met10008Val)
|
rs1553877757
|
0.00001
|
NM_001267550.2(TTN):c.3070G>A (p.Val1024Ile)
|
rs368770038
|
0.00001
|
NM_001267550.2(TTN):c.33248-8C>G
|
rs766957102
|
0.00001
|
NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn)
|
rs368967197
|
0.00001
|
NM_001267550.2(TTN):c.34734A>G (p.Val11578=)
|
rs866407525
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.40877-7A>G
|
rs727505201
|
0.00001
|
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val)
|
rs545806408
|
0.00001
|
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His)
|
rs374683153
|
0.00001
|
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
|
rs727505350
|
0.00001
|
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
|
rs397517599
|
0.00001
|
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala)
|
rs201302681
|
0.00001
|
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)
|
rs397517607
|
0.00001
|
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)
|
rs397517609
|
0.00001
|
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
|
rs397517612
|
0.00001
|
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=)
|
rs373277508
|
0.00001
|
NM_001267550.2(TTN):c.53717A>G (p.Lys17906Arg)
|
rs727503606
|
0.00001
|
NM_001267550.2(TTN):c.54874G>C (p.Gly18292Arg)
|
rs377512675
|
0.00001
|
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His)
|
rs371422299
|
0.00001
|
NM_001267550.2(TTN):c.583+5G>A
|
rs397517663
|
0.00001
|
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)
|
rs727504980
|
0.00001
|
NM_001267550.2(TTN):c.61224G>A (p.Val20408=)
|
rs566188777
|
0.00001
|
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys)
|
rs562680371
|
0.00001
|
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)
|
rs397517673
|
0.00001
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)
|
rs397517690
|
0.00001
|
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)
|
rs397517691
|
0.00001
|
NM_001267550.2(TTN):c.72669del (p.Asp24224fs)
|
rs727504531
|
0.00001
|
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)
|
rs368530092
|
0.00001
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu)
|
rs531281558
|
0.00001
|
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=)
|
rs189187431
|
0.00001
|
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)
|
rs374494927
|
0.00001
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)
|
rs397517730
|
0.00001
|
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)
|
rs773001228
|
0.00001
|
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)
|
rs369444690
|
0.00001
|
NM_001267550.2(TTN):c.87663T>C (p.Ser29221=)
|
rs397517737
|
0.00001
|
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)
|
rs371678936
|
0.00001
|
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)
|
rs369279892
|
0.00001
|
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)
|
rs369855092
|
0.00001
|
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile)
|
rs727505024
|
0.00001
|
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)
|
rs553668520
|
0.00001
|
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)
|
rs727504501
|
0.00001
|
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)
|
rs531432790
|
0.00001
|
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)
|
rs727504528
|
0.00001
|
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys)
|
rs727503682
|
0.00001
|
NM_001267550.2(TTN):c.96978G>A (p.Leu32326=)
|
rs397517765
|
0.00001
|
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)
|
rs397517770
|
0.00001
|
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys)
|
rs761050391
|
0.00001
|
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)
|
rs397517771
|
0.00001
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)
|
rs746492909
|
0.00001
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
NM_001276345.2(TNNT2):c.522C>T (p.Asn174=)
|
rs483352833
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly)
|
rs876657555
|
0.00001
|
NM_001354689.3(RAF1):c.1200C>T (p.Val400=)
|
rs397516814
|
0.00001
|
NM_001369.3(DNAH5):c.832del (p.Ala278fs)
|
rs727502977
|
0.00001
|
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His)
|
rs867315415
|
0.00001
|
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs)
|
rs766971906
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001927.4(DES):c.894G>A (p.Ser298=)
|
rs747073500
|
0.00001
|
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn)
|
rs753406968
|
0.00001
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
NM_002471.4(MYH6):c.252C>T (p.Phe84=)
|
rs397516757
|
0.00001
|
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=)
|
rs529107714
|
0.00001
|
NM_002471.4(MYH6):c.4960-9G>A
|
rs557113705
|
0.00001
|
NM_002473.6(MYH9):c.11A>G (p.Gln4Arg)
|
rs773960235
|
0.00001
|
NM_002473.6(MYH9):c.1389G>A (p.Ser463=)
|
rs757449139
|
0.00001
|
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu)
|
rs368797590
|
0.00001
|
NM_002473.6(MYH9):c.3697G>A (p.Val1233Met)
|
rs542791128
|
0.00001
|
NM_002473.6(MYH9):c.3903G>C (p.Lys1301Asn)
|
rs767235227
|
0.00001
|
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr)
|
rs373912645
|
0.00001
|
NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln)
|
rs727503285
|
0.00001
|
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His)
|
rs777701033
|
0.00001
|
NM_002473.6(MYH9):c.519-6T>G
|
rs867195616
|
0.00001
|
NM_002524.5(NRAS):c.159G>A (p.Leu53=)
|
rs114668710
|
0.00001
|
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu)
|
rs144707871
|
0.00001
|
NM_002764.4(PRPS1):c.12C>T (p.Ile4=)
|
rs752590804
|
0.00001
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
NM_002880.4(RAF1):c.321T>C (p.Gly107=)
|
rs201937982
|
0.00001
|
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln)
|
rs752713997
|
0.00001
|
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter)
|
rs180760483
|
0.00001
|
NM_002906.4(RDX):c.995T>C (p.Ile332Thr)
|
rs533107164
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)
|
rs761507504
|
0.00001
|
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)
|
rs1326514987
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
0.00001
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
|
rs727504302
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr)
|
rs764330616
|
0.00001
|
NM_004100.5(EYA4):c.723A>G (p.Pro241=)
|
rs556550485
|
0.00001
|
NM_004281.4(BAG3):c.465A>G (p.Ala155=)
|
rs775151738
|
0.00001
|
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)
|
rs557241012
|
0.00001
|
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)
|
rs746594822
|
0.00001
|
NM_004415.4(DSP):c.145A>G (p.Thr49Ala)
|
rs142059019
|
0.00001
|
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)
|
rs577061462
|
0.00001
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
NM_004448.4(ERBB2):c.2443G>A (p.Gly815Arg)
|
rs368094521
|
0.00001
|
NM_004629.2(FANCG):c.85-2A>T
|
rs759590778
|
0.00001
|
NM_004700.4(KCNQ4):c.2006A>G (p.His669Arg)
|
rs749565877
|
0.00001
|
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)
|
rs28939710
|
0.00001
|
NM_005343.4(HRAS):c.378A>G (p.Glu126=)
|
rs397517140
|
0.00001
|
NM_005343.4(HRAS):c.510G>A (p.Lys170=)
|
rs397517143
|
0.00001
|
NM_005379.4(MYO1A):c.522C>T (p.Leu174=)
|
rs561295735
|
0.00001
|
NM_005422.4(TECTA):c.1572C>T (p.Cys524=)
|
rs767426110
|
0.00001
|
NM_005422.4(TECTA):c.2719C>T (p.Arg907Ter)
|
rs764424917
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys)
|
rs1428598791
|
0.00001
|
NM_005548.3(KARS1):c.1184A>G (p.Asn395Ser)
|
rs780462719
|
0.00001
|
NM_005633.4(SOS1):c.350T>G (p.Val117Gly)
|
rs201085754
|
0.00001
|
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn)
|
rs772392224
|
0.00001
|
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)
|
rs773900146
|
0.00001
|
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu)
|
rs149865710
|
0.00001
|
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln)
|
rs750806151
|
0.00001
|
NM_006005.3(WFS1):c.2454C>T (p.Arg818=)
|
rs139223980
|
0.00001
|
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)
|
rs886042002
|
0.00001
|
NM_006231.4(POLE):c.5221C>T (p.Gln1741Ter)
|
rs781481160
|
0.00001
|
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys)
|
rs5745067
|
0.00001
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
NM_006393.3(NEBL):c.2820C>T (p.His940=)
|
rs532565487
|
0.00001
|
NM_006393.3(NEBL):c.2913C>T (p.Asp971=)
|
rs575423101
|
0.00001
|
NM_007078.3(LDB3):c.2091C>T (p.Cys697=)
|
rs571356142
|
0.00001
|
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr)
|
rs749520121
|
0.00001
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_013296.5(GPSM2):c.186C>T (p.Ser62=)
|
rs199575734
|
0.00001
|
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg)
|
rs368570586
|
0.00001
|
NM_014000.3(VCL):c.874+13T>C
|
rs777617736
|
0.00001
|
NM_014391.3(ANKRD1):c.256G>C (p.Asp86His)
|
rs573892607
|
0.00001
|
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe)
|
rs397517251
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr)
|
rs1444564272
|
0.00001
|
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)
|
rs144104577
|
0.00001
|
NM_016203.4(PRKAG2):c.42T>A (p.Val14=)
|
rs141316327
|
0.00001
|
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=)
|
rs373000537
|
0.00001
|
NM_016203.4(PRKAG2):c.685-7C>A
|
rs397517278
|
0.00001
|
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg)
|
rs753790346
|
0.00001
|
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys)
|
rs749812958
|
0.00001
|
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln)
|
rs756752580
|
0.00001
|
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln)
|
rs760980785
|
0.00001
|
NM_016239.4(MYO15A):c.6669G>A (p.Ala2223=)
|
rs558947304
|
0.00001
|
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser)
|
rs375459945
|
0.00001
|
NM_016239.4(MYO15A):c.7893+1G>A
|
rs727503316
|
0.00001
|
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile)
|
rs374602567
|
0.00001
|
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)
|
rs397517184
|
0.00001
|
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu)
|
rs368597074
|
0.00001
|
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp)
|
rs727504455
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022124.6(CDH23):c.3151G>A (p.Val1051Ile)
|
rs876657439
|
0.00001
|
NM_022124.6(CDH23):c.4207-8G>T
|
rs748187466
|
0.00001
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6196C>T (p.Arg2066Trp)
|
rs111033489
|
0.00001
|
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=)
|
rs373462599
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys)
|
rs761082272
|
0.00001
|
NM_022124.6(CDH23):c.7055-15G>A
|
rs371872394
|
0.00001
|
NM_022124.6(CDH23):c.8065-9C>T
|
rs397517355
|
0.00001
|
NM_022124.6(CDH23):c.9738+6C>T
|
rs727504562
|
0.00001
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
NM_024422.6(DSC2):c.267G>A (p.Ser89=)
|
rs201363937
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_030662.4(MAP2K2):c.621G>A (p.Glu207=)
|
rs397517416
|
0.00001
|
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)
|
rs757240576
|
0.00001
|
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)
|
rs515726205
|
0.00001
|
NM_032119.4(ADGRV1):c.-26_-9del
|
rs773996398
|
0.00001
|
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val)
|
rs727503078
|
0.00001
|
NM_032119.4(ADGRV1):c.12424C>T (p.Arg4142Trp)
|
rs534226753
|
0.00001
|
NM_032119.4(ADGRV1):c.12613T>G (p.Ser4205Ala)
|
rs746448681
|
0.00001
|
NM_032119.4(ADGRV1):c.14185G>A (p.Asp4729Asn)
|
rs778820230
|
0.00001
|
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)
|
rs1131691924
|
0.00001
|
NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile)
|
rs727504913
|
0.00001
|
NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr)
|
rs560274484
|
0.00001
|
NM_032119.4(ADGRV1):c.17857-11G>A
|
rs918520562
|
0.00001
|
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser)
|
rs876657823
|
0.00001
|
NM_032119.4(ADGRV1):c.18125A>G (p.Gln6042Arg)
|
rs764963960
|
0.00001
|
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=)
|
rs181146384
|
0.00001
|
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)
|
rs757860505
|
0.00001
|
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln)
|
rs766225545
|
0.00001
|
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)
|
rs369910075
|
0.00001
|
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys)
|
rs876657822
|
0.00001
|
NM_032119.4(ADGRV1):c.3943C>A (p.Gln1315Lys)
|
rs764685377
|
0.00001
|
NM_032119.4(ADGRV1):c.4373C>G (p.Thr1458Ser)
|
rs562424836
|
0.00001
|
NM_032119.4(ADGRV1):c.4771A>G (p.Thr1591Ala)
|
rs775471701
|
0.00001
|
NM_032119.4(ADGRV1):c.6275-9G>T
|
rs1206365367
|
0.00001
|
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp)
|
rs397517434
|
0.00001
|
NM_032119.4(ADGRV1):c.7748A>G (p.Tyr2583Cys)
|
rs778879752
|
0.00001
|
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=)
|
rs397517442
|
0.00001
|
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val)
|
rs759038879
|
0.00001
|
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu)
|
rs766790920
|
0.00001
|
NM_032229.3(SLITRK6):c.1754C>T (p.Thr585Ile)
|
rs1229145139
|
0.00001
|
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)
|
rs797045105
|
0.00001
|
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln)
|
rs528989984
|
0.00001
|
NM_080680.3(COL11A2):c.2808C>T (p.Thr936=)
|
rs775487504
|
0.00001
|
NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser)
|
rs764935691
|
0.00001
|
NM_080680.3(COL11A2):c.3799-9C>G
|
rs762361602
|
0.00001
|
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln)
|
rs727504832
|
0.00001
|
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys)
|
rs727504543
|
0.00001
|
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)
|
rs781633250
|
0.00001
|
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His)
|
rs138667578
|
0.00001
|
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys)
|
rs727503062
|
0.00001
|
NM_133379.5(TTN):c.14902G>A (p.Asp4968Asn)
|
rs371444691
|
0.00001
|
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile)
|
rs184603559
|
0.00001
|
NM_144672.4(OTOA):c.1880+1G>A
|
rs148690740
|
0.00001
|
NM_144991.3(TSPEAR):c.802C>T (p.Arg268Ter)
|
rs782471965
|
0.00001
|
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)
|
rs150593932
|
0.00001
|
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys)
|
rs397517880
|
0.00001
|
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)
|
rs727503443
|
0.00001
|
NM_170707.4(LMNA):c.1488+8G>A
|
rs762836610
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_170707.4(LMNA):c.1699-8C>G
|
rs727503137
|
0.00001
|
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)
|
rs397517897
|
0.00001
|
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)
|
rs397517925
|
0.00001
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00001
|
NM_178335.3(CCDC50):c.821G>A (p.Arg274Gln)
|
rs199527848
|
0.00001
|
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)
|
rs104894378
|
0.00001
|
NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu)
|
rs551919295
|
0.00001
|
NM_194248.3(OTOF):c.251T>C (p.Val84Ala)
|
rs727505096
|
0.00001
|
NM_194248.3(OTOF):c.3864+1G>A
|
rs758918226
|
0.00001
|
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys)
|
rs142111099
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NM_194248.3(OTOF):c.5712+6C>G
|
rs200435099
|
0.00001
|
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
|
rs193922728
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)
|
rs111033395
|
0.00001
|
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val)
|
rs727505097
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys)
|
rs921800139
|
0.00001
|
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro)
|
rs143032902
|
0.00001
|
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met)
|
rs727504686
|
0.00001
|
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)
|
rs546494522
|
0.00001
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys)
|
rs876657627
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
NM_206933.4(USH2A):c.553A>G (p.Met185Val)
|
rs770266757
|
0.00001
|
NM_206933.4(USH2A):c.652-9T>G
|
rs1231791432
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile)
|
rs778655083
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)
|
rs559922535
|
0.00001
|
NM_206933.4(USH2A):c.9259-14A>C
|
rs561590242
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NC_012920.1:m.1494C>T
|
rs267606619
|
|
NC_012920.1:m.1555A>G
|
rs267606617
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000026.4(ADSL):c.153+1G>T
|
rs1555903969
|
|
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)
|
rs766720790
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
NM_000051.4(ATM):c.3403-13dup
|
rs3218681
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
NM_000059.4(BRCA2):c.7976+1G>A
|
rs81002873
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000063.6(C2):c.841_849+19del
|
rs9332736
|
|
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)
|
rs80338779
|
|
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)
|
rs550371466
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
NM_000081.4(LYST):c.11268-5del
|
rs36014994
|
|
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser)
|
rs587779633
|
|
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp)
|
rs587779691
|
|
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)
|
rs1801183
|
|
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu)
|
rs1576468562
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)
|
rs56247709
|
|
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr)
|
rs200761108
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
|
rs397515739
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)
|
rs397515775
|
|
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3337+1G>A
|
rs397515789
|
|
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)
|
rs397515798
|
|
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)
|
rs397515802
|
|
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)
|
rs397515804
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)
|
rs397515817
|
|
NM_000138.5(FBN1):c.5066del (p.Asp1689fs)
|
rs727504347
|
|
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)
|
rs397515828
|
|
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
|
rs727504642
|
|
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)
|
rs397515830
|
|
NM_000138.5(FBN1):c.6379+1G>A
|
rs397515833
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)
|
rs2070956
|
|
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter)
|
rs144723656
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
NM_000169.3(GLA):c.386T>C (p.Leu129Pro)
|
rs727503072
|
|
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)
|
rs104894845
|
|
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)
|
rs397515870
|
|
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)
|
rs397515871
|
|
NM_000169.3(GLA):c.758T>C (p.Ile253Thr)
|
rs727505292
|
|
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)
|
rs398123224
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)
|
rs63751113
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_000213.5(ITGB4):c.2783-2A>G
|
rs758551913
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.1129-8G>A
|
rs200612600
|
|
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.1394-8C>T
|
rs371488379
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=)
|
rs569971691
|
|
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)
|
rs794728537
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)
|
rs11601907
|
|
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)
|
rs11601907
|
|
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=)
|
rs587781009
|
|
NM_000218.3(KCNQ1):c.403del (p.Val135fs)
|
rs794728565
|
|
NM_000218.3(KCNQ1):c.488del (p.Leu163fs)
|
rs397508112
|
|
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=)
|
rs757713526
|
|
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)
|
rs794728568
|
|
NM_000218.3(KCNQ1):c.781-19TG[2]
|
rs727503103
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)
|
rs1057516759
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val)
|
rs199472989
|
|
NM_000238.4(KCNH2):c.2398+105del
|
rs546898924
|
|
NM_000238.4(KCNH2):c.2592+3G>A
|
rs906562788
|
|
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala)
|
rs199473009
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])
|
rs551056698
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
NM_000251.3(MSH2):c.942+20_942+29del
|
rs11309117
|
|
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu)
|
rs397515907
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser)
|
rs727504887
|
|
NM_000256.3(MYBPC3):c.1776G>A (p.Val592=)
|
rs727503196
|
|
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu)
|
rs397515938
|
|
NM_000256.3(MYBPC3):c.2148+6_2148+9del
|
rs397515949
|
|
NM_000256.3(MYBPC3):c.2905+5G>T
|
rs193922381
|
|
NM_000256.3(MYBPC3):c.2906-2A>G
|
rs727504333
|
|
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val)
|
rs397515993
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=)
|
rs200372325
|
|
NM_000256.3(MYBPC3):c.3330+5G>T
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3331-1G>A
|
rs727504305
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)
|
rs397516038
|
|
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val)
|
rs727504259
|
|
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)
|
rs730880603
|
|
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp)
|
rs727504380
|
|
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile)
|
rs397516045
|
|
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)
|
rs727505267
|
|
NM_000256.3(MYBPC3):c.506-12del
|
rs11570050
|
|
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=)
|
rs370962887
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.821+5G>A
|
rs397516077
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000256.3(MYBPC3):c.852-10C>G
|
rs750425291
|
|
NM_000256.3(MYBPC3):c.927-10C>A
|
rs201078659
|
|
NM_000256.3(MYBPC3):c.933G>A (p.Ser311=)
|
rs374326087
|
|
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=)
|
rs374326087
|
|
NM_000257.4(MYH7):c.1012G>A (p.Val338Met)
|
rs727503271
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg)
|
rs397516092
|
|
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu)
|
rs727503268
|
|
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn)
|
rs397516093
|
|
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val)
|
rs727503266
|
|
NM_000257.4(MYH7):c.1318G>A (p.Val440Met)
|
rs397516098
|
|
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)
|
rs727504236
|
|
NM_000257.4(MYH7):c.1477A>G (p.Met493Val)
|
rs730880875
|
|
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr)
|
rs397516110
|
|
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)
|
rs606231324
|
|
NM_000257.4(MYH7):c.1755C>A (p.Ile585=)
|
rs201860580
|
|
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala)
|
rs397516121
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile)
|
rs727503262
|
|
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr)
|
rs397516128
|
|
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn)
|
rs397516132
|
|
NM_000257.4(MYH7):c.2129C>A (p.Pro710His)
|
rs727504272
|
|
NM_000257.4(MYH7):c.2129C>T (p.Pro710Leu)
|
rs727504272
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu)
|
rs727504241
|
|
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
|
rs727503261
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2287G>A (p.Val763Met)
|
rs727504253
|
|
NM_000257.4(MYH7):c.2358G>T (p.Thr786=)
|
rs36211714
|
|
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala)
|
rs727503255
|
|
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His)
|
rs730880746
|
|
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn)
|
rs397516154
|
|
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)
|
rs727504310
|
|
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)
|
rs397516155
|
|
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly)
|
rs2754158
|
|
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)
|
rs727504356
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del)
|
rs193922387
|
|
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu)
|
rs727503254
|
|
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val)
|
rs727503254
|
|
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)
|
rs397516165
|
|
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys)
|
rs397516170
|
|
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn)
|
rs727503252
|
|
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del)
|
rs397516172
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys)
|
rs727504274
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
|
NM_000257.4(MYH7):c.396G>T (p.Pro132=)
|
rs138932714
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys)
|
rs727503245
|
|
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)
|
rs200852418
|
|
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)
|
rs397516207
|
|
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)
|
rs397516208
|
|
NM_000257.4(MYH7):c.4354-7C>T
|
rs370093487
|
|
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn)
|
rs397516212
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp)
|
rs730880911
|
|
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)
|
rs370328209
|
|
NM_000257.4(MYH7):c.506G>A (p.Arg169Lys)
|
rs397516237
|
|
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)
|
rs121913650
|
|
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu)
|
rs397516247
|
|
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val)
|
rs730880817
|
|
NM_000257.4(MYH7):c.5421C>T (p.Gly1807=)
|
rs142844109
|
|
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro)
|
rs397516253
|
|
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
|
rs397516254
|
|
NM_000257.4(MYH7):c.596C>T (p.Ala199Val)
|
rs727504283
|
|
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)
|
rs397516260
|
|
NM_000257.4(MYH7):c.686C>T (p.Ala229Val)
|
rs876657888
|
|
NM_000257.4(MYH7):c.707T>C (p.Val236Ala)
|
rs397516262
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys)
|
rs730880921
|
|
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys)
|
rs730880922
|
|
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr)
|
rs727504280
|
|
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys)
|
rs727503274
|
|
NM_000257.4(MYH7):c.968T>A (p.Ile323Asn)
|
rs397516275
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000258.3(MYL3):c.477G>T (p.Thr159=)
|
rs148365503
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283
|
|
NM_000260.4(MYO7A):c.132+5G>A
|
rs397516284
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000260.4(MYO7A):c.1343+8G>T
|
rs2276278
|
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
|
NM_000260.4(MYO7A):c.1690+1G>A
|
rs111033389
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg)
|
rs797044514
|
|
NM_000260.4(MYO7A):c.2094+1G>A
|
rs111033404
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)
|
rs148343670
|
|
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)
|
rs781790246
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu)
|
rs565162134
|
|
NM_000260.4(MYO7A):c.285+2T>C
|
rs782292032
|
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233
|
|
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs)
|
rs111033239
|
|
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs)
|
rs111033390
|
|
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs)
|
rs1555090368
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro)
|
rs397516310
|
|
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla)
|
rs111033259
|
|
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs)
|
rs111033276
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr)
|
rs762131185
|
|
NM_000260.4(MYO7A):c.5327-11A>G
|
rs397516316
|
|
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=)
|
rs111033504
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr)
|
rs397516325
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup)
|
rs111033388
|
|
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)
|
rs797044512
|
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
|
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)
|
rs357564
|
|
NM_000270.4(PNP):c.286-18G>A
|
rs1026474882
|
|
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)
|
rs750292546
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)
|
rs758902805
|
|
NM_000307.5(POU3F4):c.249C>A (p.Pro83=)
|
rs370722742
|
|
NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter)
|
rs111033343
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter)
|
rs786201867
|
|
NM_000314.8(PTEN):c.635-3C>G
|
rs1085308056
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000314.8(PTEN):c.802-3del
|
rs34003473
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)
|
rs397517953
|
|
NM_000335.5(SCN5A):c.2533del (p.Val845fs)
|
rs794728912
|
|
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile)
|
rs199473054
|
|
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter)
|
rs759924541
|
|
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=)
|
rs200334972
|
|
NM_000335.5(SCN5A):c.4242+1G>C
|
rs794728879
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
NM_000335.5(SCN5A):c.703+6A>G
|
rs781104838
|
|
NM_000337.6(SGCD):c.105G>C (p.Leu35=)
|
rs193922392
|
|
NM_000337.6(SGCD):c.383-11A>T
|
rs727504584
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)
|
rs775827496
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro)
|
rs397516354
|
|
NM_000363.5(TNNI3):c.488C>T (p.Ala163Val)
|
rs727504367
|
|
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)
|
rs397516355
|
|
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr)
|
rs727504365
|
|
NM_000363.5(TNNI3):c.611G>A (p.Arg204His)
|
rs727504275
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000370.3(TTPA):c.19del (p.Gln7fs)
|
rs760014795
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
|
rs876658108
|
|
NM_000371.4(TTR):c.421GTC[1] (p.Val142del)
|
rs121918096
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
|
|
|
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.2981C>T (p.Pro994Leu)
|
|
|
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
|
|
|
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
|
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
|
|
|
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.9835A>G (p.Ser3279Gly)
|
|
|
NM_000395.3(CSF2RB):c.2124del (p.Ser709fs)
|
rs568607741
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000432.4(MYL2):c.274+9GT[10]
|
rs142567411
|
|
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)
|
rs397516414
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del)
|
rs111033207
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1545-14_1545-12del
|
rs397516419
|
|
NM_000441.2(SLC26A4):c.1707+6T>C
|
rs727505230
|
|
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter)
|
rs111033200
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly)
|
rs111033344
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.765+2T>C
|
rs397516432
|
|
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)
|
rs111033205
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
|
rs35350960
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.489+8T>C
|
rs727504712
|
|
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)
|
rs61752786
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
NM_000501.4(ELN):c.1415-9A>G
|
rs727503032
|
|
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)
|
rs17855988
|
|
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)
|
rs727503034
|
|
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg)
|
rs200923204
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
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.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu)
|
rs879254566
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)
|
rs886054230
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
|
rs1054487
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)
|
rs397516434
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.920-2A>G
|
rs397516439
|
|
NM_000546.6(TP53):c.949C>T (p.Gln317Ter)
|
rs764735889
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)
|
rs1051771
|
|
NM_000551.4(VHL):c.-61_-51dup
|
rs727503743
|
|
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
|
rs5030802
|
|
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)
|
rs5030648
|
|
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)
|
rs398123481
|
|
NM_000551.4(VHL):c.433_439del (p.Gln145fs)
|
rs1559428217
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000601.6(HGF):c.1041-12T>C
|
rs546227025
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT
|
rs397516362
|
|
NM_001004334.4(GPR179):c.3138_3139del (p.Glu1046fs)
|
rs776189685
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001004482.1(OR13C5):c.243G>C (p.Thr81=)
|
rs75081605
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.1170+4_1170+7del
|
rs397516988
|
|
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)
|
rs397516998
|
|
NM_001005242.3(PKP2):c.1556+9A>G
|
rs397517004
|
|
NM_001005242.3(PKP2):c.1557-8dup
|
rs200009796
|
|
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=)
|
rs377504106
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
NM_001005242.3(PKP2):c.2446-10dup
|
rs397517024
|
|
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)
|
rs202094467
|
|
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu)
|
rs75282758
|
|
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser)
|
rs781627051
|
|
NM_001015878.2(AURKC):c.94_101dup (p.Met35fs)
|
rs749123022
|
|
NM_001018005.2(TPM1):c.457C>G (p.His153Asp)
|
rs397516372
|
|
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln)
|
rs727504290
|
|
NM_001018005.2(TPM1):c.533G>A (p.Arg178His)
|
rs397516375
|
|
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)
|
rs199476315
|
|
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys)
|
rs397516486
|
|
NM_001018005.2(TPM1):c.639+13del
|
rs397516488
|
|
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn)
|
rs727503518
|
|
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val)
|
rs397516387
|
|
NM_001032283.3(TMPO):c.396T>A (p.Gly132=)
|
rs397516844
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del)
|
rs199663434
|
|
NM_001035.2(RYR2):c.14091-11dup
|
rs35563566
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
NM_001035.3(RYR2):c.11092-11del
|
rs397516499
|
|
NM_001035.3(RYR2):c.11092-11dup
|
rs397516499
|
|
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=)
|
rs372943408
|
|
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=)
|
rs114303476
|
|
NM_001035.3(RYR2):c.14591-9del
|
rs876657987
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
NM_001035.3(RYR2):c.1477-11del
|
rs397516518
|
|
NM_001035.3(RYR2):c.1477-11dup
|
rs397516518
|
|
NM_001035.3(RYR2):c.3599-9del
|
rs11331089
|
|
NM_001035.3(RYR2):c.385-9A>C
|
rs140998248
|
|
NM_001035.3(RYR2):c.4597-11del
|
rs3841805
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=)
|
rs114534505
|
|
NM_001035.3(RYR2):c.6555+8C>G
|
rs1759122
|
|
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)
|
rs371560909
|
|
NM_001035.3(RYR2):c.7222-12dup
|
rs145140335
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp)
|
rs876657425
|
|
NM_001038603.3(MARVELD2):c.504A>G (p.Thr168=)
|
rs568560843
|
|
NM_001039141.3(TRIOBP):c.4703C>G (p.Ala1568Gly)
|
rs569914227
|
|
NM_001039141.3(TRIOBP):c.6936+13G>T
|
rs727503529
|
|
NM_001039213.4(CEACAM16):c.1249G>C (p.Val417Leu)
|
rs199597608
|
|
NM_001039876.3(SYNE4):c.1025A>G (p.Asn342Ser)
|
rs200948076
|
|
NM_001042413.2(GLIS3):c.571_572dup (p.Leu191_Asn192insTer)
|
rs1586744173
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup)
|
rs1220133830
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001077365.2(POMT1):c.123-5dup
|
rs148086540
|
|
NM_001079668.3(NKX2-1):c.584G>A (p.Arg195Gln)
|
rs1555349228
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)
|
rs141621969
|
|
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter)
|
rs765669597
|
|
NM_001101426.4(CRPPA):c.685-25GTT[6]
|
rs142647500
|
|
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr)
|
rs142943120
|
|
NM_001103.4(ACTN2):c.18C>A (p.Pro6=)
|
rs368367224
|
|
NM_001103.4(ACTN2):c.1975-6C>A
|
rs201255023
|
|
NM_001103.4(ACTN2):c.1975-6C>G
|
rs201255023
|
|
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu)
|
rs397516577
|
|
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)
|
rs371622656
|
|
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val)
|
rs727503116
|
|
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu)
|
rs727503115
|
|
NM_001105206.3(LAMA4):c.1647A>C (p.Ser549=)
|
rs149459643
|
|
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=)
|
rs201152817
|
|
NM_001110219.3(GJB6):c.689dup (p.Asn230fs)
|
rs398124237
|
|
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)
|
rs1060501425
|
|
NM_001114753.3(ENG):c.909C>T (p.Ala303=)
|
rs200306464
|
|
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)
|
rs77132068
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg)
|
rs373787249
|
|
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr)
|
rs147933585
|
|
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=)
|
rs36061665
|
|
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser)
|
rs147146258
|
|
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del)
|
rs72556363
|
|
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=)
|
rs776968811
|
|
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])
|
rs398123779
|
|
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.1906C>A (p.Arg636Ser)
|
rs267607002
|
|
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu)
|
rs397516601
|
|
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)
|
rs397516603
|
|
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr)
|
rs147356378
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001145809.2(MYH14):c.1625T>G (p.Leu542Arg)
|
rs727504564
|
|
NM_001145809.2(MYH14):c.192G>T (p.Gly64=)
|
rs181055215
|
|
NM_001145809.2(MYH14):c.5083G>C (p.Gly1695Arg)
|
rs199915414
|
|
NM_001145809.2(MYH14):c.660G>T (p.Ser220=)
|
rs201835322
|
|
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=)
|
rs147579763
|
|
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)
|
rs876657540
|
|
NM_001164508.2(NEB):c.13368+11A>G
|
rs112260335
|
|
NM_001164508.2(NEB):c.13476C>T (p.Asp4492=)
|
rs876657541
|
|
NM_001164508.2(NEB):c.18997-10T>C
|
rs4544436
|
|
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer)
|
rs778073001
|
|
NM_001195248.2(APTX):c.484-25_484-5del
|
rs200922655
|
|
NM_001195248.2(APTX):c.484-3del
|
rs373304582
|
|
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)
|
rs555444131
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4])
|
rs762000985
|
|
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])
|
rs397516634
|
|
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3])
|
rs727503369
|
|
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del)
|
rs397516636
|
|
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)
|
rs200664140
|
|
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys)
|
rs182963279
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
NM_001232.4(CASQ2):c.421-15C>G
|
rs199939582
|
|
NM_001232.4(CASQ2):c.738-6_738-5del
|
rs56889721
|
|
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)
|
rs200288250
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile)
|
rs727503492
|
|
NM_001256317.3(TMPRSS3):c.1180G>C (p.Asp394His)
|
rs111033537
|
|
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)
|
rs150397427
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val)
|
rs761105256
|
|
NM_001267550.2(TTN):c.11311+1079_11311+1080del
|
rs58651353
|
|
NM_001267550.2(TTN):c.11311+1080del
|
rs58651353
|
|
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=)
|
rs375347596
|
|
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser)
|
rs727503656
|
|
NM_001267550.2(TTN):c.1398+4C>T
|
rs368548209
|
|
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=)
|
rs373875040
|
|
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)
|
rs72648929
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
NM_001267550.2(TTN):c.16751T>A (p.Ile5584Asn)
|
rs779652311
|
|
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)
|
rs191057824
|
|
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=)
|
rs557350005
|
|
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)
|
rs376882041
|
|
NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu)
|
rs533384820
|
|
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del)
|
rs727503701
|
|
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.23538C>T (p.Phe7846=)
|
rs149523263
|
|
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=)
|
rs201766927
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)
|
rs749823104
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
NM_001267550.2(TTN):c.2607T>C (p.Thr869=)
|
rs143969192
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[10]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[7]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[8]
|
rs71393436
|
|
NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg)
|
rs774924294
|
|
NM_001267550.2(TTN):c.29448AGA[2] (p.Glu9820del)
|
rs377232641
|
|
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)
|
rs189286381
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
NM_001267550.2(TTN):c.30512-19dup
|
rs397517532
|
|
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.32515G>T (p.Ala10839Ser)
|
rs727503635
|
|
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=)
|
rs397517542
|
|
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln)
|
rs181395238
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5])
|
rs397517548
|
|
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.34453+14G>A
|
rs397517550
|
|
NM_001267550.2(TTN):c.34708+9G>T
|
rs397517551
|
|
NM_001267550.2(TTN):c.39212-9C>A
|
rs373056460
|
|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
|
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1])
|
rs139512154
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.40634-15_40634-11del
|
rs375561641
|
|
NM_001267550.2(TTN):c.40723+1del
|
rs876658058
|
|
NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg)
|
rs557125278
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
NM_001267550.2(TTN):c.43481-16dup
|
rs730880350
|
|
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val)
|
rs72677221
|
|
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)
|
rs74580375
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)
|
rs397517588
|
|
NM_001267550.2(TTN):c.48638+5G>T
|
rs397517594
|
|
NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln)
|
rs547986881
|
|
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)
|
rs148299739
|
|
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)
|
rs200778464
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)
|
rs397517660
|
|
NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu)
|
rs397517661
|
|
NM_001267550.2(TTN):c.68417C>T (p.Thr22806Ile)
|
rs727503573
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter)
|
rs727503688
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met)
|
rs56372592
|
|
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)
|
rs55933739
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)
|
rs11887722
|
|
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=)
|
rs11897366
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
|
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)
|
rs373366126
|
|
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)
|
rs727505200
|
|
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)
|
rs572401798
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)
|
rs55704830
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)
|
rs375361462
|
|
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=)
|
rs375361462
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.412-6_412-4del
|
rs397516462
|
|
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys)
|
rs397516465
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln)
|
rs121964860
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.719+13A>C
|
rs563883763
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His)
|
rs727505321
|
|
NM_001277269.2(OTOG):c.7517-5_7518dup
|
rs1295062471
|
|
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys)
|
rs145166802
|
|
NM_001289808.2(CRYAB):c.510C>T (p.Thr170=)
|
rs147970333
|
|
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr)
|
rs191354103
|
|
NM_001292063.2(OTOG):c.1353C>A (p.Phe451Leu)
|
rs189947237
|
|
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter)
|
rs876657656
|
|
NM_001292063.2(OTOG):c.2723G>T (p.Arg908Leu)
|
rs144060182
|
|
NM_001292063.2(OTOG):c.499del (p.Val167fs)
|
rs876657657
|
|
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs)
|
rs34547529
|
|
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu)
|
rs188527711
|
|
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met)
|
rs572886375
|
|
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs)
|
rs1157646266
|
|
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His)
|
rs766229978
|
|
NM_001308093.3(GATA4):c.702G>A (p.Thr234=)
|
rs55788387
|
|
NM_001354604.2(MITF):c.1072G>A (p.Val358Met)
|
rs1271000541
|
|
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)
|
rs202020443
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
NM_001368067.1(LDB3):c.456G>T (p.Ala152=)
|
rs371708921
|
|
NM_001369.3(DNAH5):c.12033+7A>G
|
rs77541151
|
|
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs)
|
rs727502971
|
|
NM_001369.3(DNAH5):c.2578-10_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-9_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)
|
rs1580731750
|
|
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs)
|
rs727504802
|
|
NM_001372051.1(CASP8):c.853G>C (p.Asp285His)
|
rs1045485
|
|
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg)
|
rs397516891
|
|
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)
|
rs386789728
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu)
|
rs138921247
|
|
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del)
|
rs754175473
|
|
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)
|
rs574785830
|
|
NM_001378609.3(OTOGL):c.1350A>G (p.Leu450=)
|
rs557104053
|
|
NM_001378609.3(OTOGL):c.335-9del
|
rs754987281
|
|
NM_001378609.3(OTOGL):c.6055C>A (p.His2019Asn)
|
rs201869161
|
|
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs)
|
rs876657658
|
|
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly)
|
rs199786639
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
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.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)
|
rs561144747
|
|
NM_001384140.1(PCDH15):c.4671+1345G>C
|
rs531574437
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.1810-6C>A
|
rs199804946
|
|
NM_001384474.1(LOXHD1):c.1810-6C>G
|
rs199804946
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
NM_001384474.1(LOXHD1):c.2916AGAGGAGGA[1] (p.Glu976_Glu978del)
|
rs765944082
|
|
NM_001384474.1(LOXHD1):c.3619+9G>A
|
rs576031049
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001384474.1(LOXHD1):c.5113_5125dup (p.Val1709fs)
|
rs876657855
|
|
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser)
|
rs539278802
|
|
NM_001386795.1(DTNA):c.1744-10G>A
|
rs192561043
|
|
NM_001386795.1(DTNA):c.1744-10G>T
|
rs192561043
|
|
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)
|
rs200246467
|
|
NM_001399.5(EDA):c.1067C>T (p.Ala356Val)
|
rs876657639
|
|
NM_001399.5(EDA):c.794A>G (p.Asp265Gly)
|
rs727504750
|
|
NM_001399.5(EDA):c.895G>A (p.Gly299Ser)
|
rs397516679
|
|
NM_001429.4(EP300):c.2997+1G>A
|
rs1169505007
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)
|
rs112602953
|
|
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)
|
rs727502878
|
|
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)
|
rs782217473
|
|
NM_001614.5(ACTG1):c.315G>A (p.Leu105=)
|
rs202094234
|
|
NM_001614.5(ACTG1):c.414C>T (p.Ala138=)
|
rs143978597
|
|
NM_001614.5(ACTG1):c.558C>T (p.Thr186=)
|
rs142893042
|
|
NM_001614.5(ACTG1):c.985-5dup
|
rs782289893
|
|
NM_001625.4(AK2):c.307C>T (p.Arg103Trp)
|
rs267606648
|
|
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp)
|
rs727505222
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_001854.4(COL11A1):c.1792-39ATG[9]
|
rs71752747
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
|
rs267607499
|
|
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
|
rs397516694
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001943.5(DSG2):c.1109dup (p.Thr371fs)
|
rs1555627118
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)
|
rs775256998
|
|
NM_001943.5(DSG2):c.1487dup (p.Cys496fs)
|
rs730880347
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)
|
rs201786158
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
NM_001943.5(DSG2):c.618T>A (p.Ala206=)
|
rs397516710
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs)
|
rs772501604
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002016.2(FLG):c.2938C>G (p.His980Asp)
|
rs12756586
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[20] (p.Gln75_Gln80dup)
|
rs3831942
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
|
rs193922648
|
|
NM_002294.3(LAMP2):c.-4G>C
|
rs200297370
|
|
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu)
|
rs61742472
|
|
NM_002471.4(MYH6):c.1131C>T (p.Asp377=)
|
rs61742472
|
|
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser)
|
rs141704264
|
|
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg)
|
rs564367705
|
|
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=)
|
rs149369904
|
|
NM_002471.4(MYH6):c.3979-7_3979-5del
|
rs397516764
|
|
NM_002471.4(MYH6):c.3979-7_3979-6del
|
rs796313537
|
|
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC
|
rs727503235
|
|
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC
|
rs796876119
|
|
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=)
|
rs141062252
|
|
NM_002471.4(MYH6):c.427C>A (p.Arg143=)
|
rs2277473
|
|
NM_002471.4(MYH6):c.4360-7C>T
|
rs58949384
|
|
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu)
|
rs34330111
|
|
NM_002471.4(MYH6):c.70C>A (p.Leu24Ile)
|
rs573489857
|
|
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr)
|
rs762745890
|
|
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu)
|
rs727504829
|
|
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp)
|
rs569541375
|
|
NM_002473.6(MYH9):c.5275-10del
|
rs552643559
|
|
NM_002473.6(MYH9):c.5483+4C>T
|
rs56327920
|
|
NM_002473.6(MYH9):c.5593-14G>T
|
rs201676960
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002691.4(POLD1):c.632G>A (p.Arg211His)
|
rs373192520
|
|
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys)
|
rs149303333
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)
|
rs397516792
|
|
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)
|
rs397516793
|
|
NM_002755.4(MAP2K1):c.694-12TC[4]
|
rs113913469
|
|
NM_002772.3(TMPRSS15):c.2042dup (p.Asn682fs)
|
rs1284864421
|
|
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)
|
rs397509344
|
|
NM_002834.5(PTPN11):c.1448-5C>T
|
rs554790621
|
|
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)
|
rs397507503
|
|
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)
|
rs397516801
|
|
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)
|
rs397507518
|
|
NM_002880.3(RAF1):c.1804-11_1804-7dup
|
rs727503382
|
|
NM_002880.4(RAF1):c.-204G>C
|
rs547543588
|
|
NM_002880.4(RAF1):c.-267G>A
|
rs116247741
|
|
NM_002880.4(RAF1):c.1108+9_1108+21del
|
rs727504451
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)
|
rs80338799
|
|
NM_002880.4(RAF1):c.1668+10_1668+11del
|
rs730880997
|
|
NM_002880.4(RAF1):c.388T>A (p.Phe130Ile)
|
rs397516821
|
|
NM_002880.4(RAF1):c.524A>G (p.His175Arg)
|
rs397516822
|
|
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)
|
rs397516825
|
|
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)
|
rs3730271
|
|
NM_002880.4(RAF1):c.775T>G (p.Ser259Ala)
|
rs3730271
|
|
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)
|
rs397516827
|
|
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)
|
rs121434594
|
|
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)
|
rs121434594
|
|
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)
|
rs397516828
|
|
NM_002880.4(RAF1):c.788T>G (p.Val263Gly)
|
rs397516830
|
|
NM_002880.4(RAF1):c.834+8G>A
|
rs727504615
|
|
NM_002906.4(RDX):c.1410C>A (p.Pro470=)
|
rs577555846
|
|
NM_002906.4(RDX):c.97-19TGT[3]
|
rs532650829
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003019.5(SFTPD):c.199+9G>A
|
rs6413522
|
|
NM_003068.5(SNAI2):c.606A>G (p.Gly202=)
|
rs370952195
|
|
NM_003193.5(TBCE):c.100+13TG[17]
|
rs10524346
|
|
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.1580C>T (p.Ala527Val)
|
rs727503476
|
|
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)
|
rs727504406
|
|
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe)
|
rs3775291
|
|
NM_003319.4(TTN):c.13282+23498dup
|
rs727503644
|
|
NM_003319.4(TTN):c.20966-11dup
|
rs730880371
|
|
NM_003401.5(XRCC4):c.25del (p.His9fs)
|
rs869320677
|
|
NM_003476.5(CSRP3):c.334G>C (p.Ala112Pro)
|
rs727504905
|
|
NM_003476.5(CSRP3):c.509-3_509-2del
|
rs397516858
|
|
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)
|
rs71785313
|
|
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del)
|
rs199702315
|
|
NM_003672.4(CDC14A):c.28G>C (p.Gly10Arg)
|
rs571098288
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser)
|
rs397516863
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
NM_003803.4(MYOM1):c.924C>A (p.Val308=)
|
rs536739408
|
|
NM_003865.3(HESX1):c.511_512del (p.Gln171fs)
|
rs752434998
|
|
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)
|
rs775006915
|
|
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)
|
rs771383153
|
|
NM_004004.5(GJB2):c.[79G>A;341A>G]
|
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)
|
rs779018464
|
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser)
|
rs552275776
|
|
NM_004006.3(DMD):c.2827C>A (p.Arg943Ser)
|
rs199986217
|
|
NM_004006.3(DMD):c.7653G>A (p.Thr2551=)
|
rs368803197
|
|
NM_004086.3(COCH):c.239+80del
|
rs111033189
|
|
NM_004100.5(EYA4):c.580+14_580+16del
|
rs139659489
|
|
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)
|
rs35434411
|
|
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)
|
rs139438727
|
|
NM_004316.4(ASCL1):c.151CAG[14] (p.Gln62_Ala63insGlnGln)
|
rs3832799
|
|
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln)
|
rs3832799
|
|
NM_004316.4(ASCL1):c.151CAG[17] (p.Gln62_Ala63insGlnGlnGlnGlnGln)
|
rs3832799
|
|
NM_004333.6(BRAF):c.111G>A (p.Ser37=)
|
rs727502906
|
|
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)
|
rs121913341
|
|
NM_004333.6(BRAF):c.2128-5del
|
rs373442098
|
|
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)
|
rs397507466
|
|
NM_004333.6(BRAF):c.739T>G (p.Phe247Val)
|
rs397516903
|
|
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)
|
rs397516905
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
NM_004403.3(GSDME):c.119dup (p.Lys41fs)
|
rs758488919
|
|
NM_004415.4(DSP):c.1266+6G>T
|
rs73375345
|
|
NM_004415.4(DSP):c.12C>G (p.Asn4Lys)
|
rs368802003
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
NM_004415.4(DSP):c.2437-11del
|
rs727502998
|
|
NM_004415.4(DSP):c.2794-7T>C
|
rs397516926
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
NM_004415.4(DSP):c.868G>A (p.Glu290Lys)
|
rs397516974
|
|
NM_004415.4(DSP):c.939+13dup
|
rs730880360
|
|
NM_004447.6(EPS8):c.2226-3del
|
rs35885542
|
|
NM_004484.4(GPC3):c.338-5del
|
rs370737647
|
|
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs)
|
rs398122797
|
|
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
|
rs55774500
|
|
NM_004577.4(PSPH):c.275+1del
|
rs139106189
|
|
NM_004612.4(TGFBR1):c.1387-4G>A
|
rs397517031
|
|
NM_004700.4(KCNQ4):c.1042-11dup
|
rs876657480
|
|
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del)
|
rs797044966
|
|
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)
|
rs727504461
|
|
NM_004817.4(TJP2):c.1444del (p.Asp482fs)
|
rs727503479
|
|
NM_004817.4(TJP2):c.1521-7A>C
|
rs373242928
|
|
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu)
|
rs199852211
|
|
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)
|
rs776842972
|
|
NM_004949.5(DSC2):c.1234dup (p.Thr412fs)
|
rs397517390
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del)
|
rs397517043
|
|
NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs)
|
rs763461489
|
|
NM_004999.4(MYO6):c.1546+7_1546+8del
|
rs3831003
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp)
|
rs876657911
|
|
NM_004999.4(MYO6):c.737A>G (p.His246Arg)
|
rs121912560
|
|
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser)
|
rs397517059
|
|
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)
|
rs727504308
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
NM_005188.4(CBL):c.1228-10dup
|
rs397517078
|
|
NM_005188.4(CBL):c.1228-2A>G
|
rs727504426
|
|
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)
|
rs397507494
|
|
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly)
|
rs373413837
|
|
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)
|
rs189809247
|
|
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.402+12del
|
rs555848272
|
|
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser)
|
rs28929495
|
|
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del)
|
rs121913421
|
|
NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del)
|
rs727504233
|
|
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)
|
rs121913465
|
|
NM_005263.5(GFI1):c.925-40CT[19]
|
rs35896485
|
|
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)
|
rs727503093
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)
|
rs121917759
|
|
NM_005379.4(MYO1A):c.2238C>G (p.Ser746=)
|
rs140932379
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
NM_005379.4(MYO1A):c.2920G>A (p.Glu974Lys)
|
rs370708976
|
|
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg)
|
rs370617353
|
|
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)
|
rs148619105
|
|
NM_005422.4(TECTA):c.5692T>C (p.Cys1898Arg)
|
rs1591464207
|
|
NM_005422.4(TECTA):c.90A>T (p.Pro30=)
|
rs577470721
|
|
NM_005577.4(LPA):c.4289+1G>A
|
rs41272114
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)
|
rs397517164
|
|
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr)
|
rs371408734
|
|
NM_005902.4(SMAD3):c.803G>A (p.Arg268His)
|
rs863223740
|
|
NM_005982.4(SIX1):c.746C>A (p.Pro249Gln)
|
rs368974927
|
|
NM_006005.3(WFS1):c.1134C>A (p.Thr378=)
|
rs71530904
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
NM_006005.3(WFS1):c.1294C>T (p.Leu432=)
|
rs35031397
|
|
NM_006005.3(WFS1):c.1725C>T (p.Ala575=)
|
rs2230719
|
|
NM_006005.3(WFS1):c.1797C>A (p.Val599=)
|
rs71524361
|
|
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys)
|
rs376626985
|
|
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)
|
rs28937893
|
|
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val)
|
rs1805070
|
|
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu)
|
rs369107336
|
|
NM_006005.3(WFS1):c.2370G>A (p.Ser790=)
|
rs150936382
|
|
NM_006005.3(WFS1):c.2370G>C (p.Ser790=)
|
rs150936382
|
|
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup)
|
rs397517197
|
|
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)
|
rs1553879004
|
|
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met)
|
rs201102144
|
|
NM_006005.3(WFS1):c.2580C>T (p.His860=)
|
rs754802246
|
|
NM_006005.3(WFS1):c.350C>T (p.Thr117Met)
|
rs141225426
|
|
NM_006005.3(WFS1):c.654C>T (p.Pro218=)
|
rs727504666
|
|
NM_006005.3(WFS1):c.831G>A (p.Lys277=)
|
rs532368033
|
|
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn)
|
rs2873479
|
|
NM_006073.4(TRDN):c.1369+3dup
|
rs537388823
|
|
NM_006073.4(TRDN):c.1598-6dup
|
rs147062785
|
|
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1])
|
rs148596612
|
|
NM_006073.4(TRDN):c.931+18del
|
rs201431159
|
|
NM_006208.3(ENPP1):c.2101-11del
|
rs397832689
|
|
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)
|
rs397517199
|
|
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)
|
rs397517201
|
|
NM_006231.4(POLE):c.1A>T (p.Met1Leu)
|
rs878854847
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu)
|
rs864622698
|
|
NM_006231.4(POLE):c.5552+1G>A
|
rs1555221894
|
|
NM_006231.4(POLE):c.6623del (p.Gln2208fs)
|
rs1555301070
|
|
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)
|
rs141361084
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
NM_007078.3(LDB3):c.*13G>T
|
rs397517207
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1])
|
rs397517209
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3])
|
rs397517209
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
NM_007078.3(LDB3):c.465C>T (p.Leu155=)
|
rs45516997
|
|
NM_007078.3(LDB3):c.576G>A (p.Pro192=)
|
rs45543741
|
|
NM_007078.3(LDB3):c.860-15C>T
|
rs727503126
|
|
NM_007078.3(LDB3):c.896+6669TC[11]
|
rs71019410
|
|
NM_007078.3(LDB3):c.896+6669TC[12]
|
rs71019410
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu)
|
rs200089613
|
|
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del)
|
rs201769534
|
|
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del)
|
rs71929101
|
|
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs)
|
rs886039902
|
|
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del)
|
rs35029887
|
|
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del)
|
rs145997327
|
|
NM_013296.5(GPSM2):c.742del (p.Gly249fs)
|
rs528069912
|
|
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg)
|
rs200342284
|
|
NM_014000.3(VCL):c.120C>T (p.Leu40=)
|
rs144080529
|
|
NM_014000.3(VCL):c.1575A>C (p.Glu525Asp)
|
rs548487697
|
|
NM_014000.3(VCL):c.168+9G>T
|
rs997516030
|
|
NM_014000.3(VCL):c.1973T>C (p.Val658Ala)
|
rs372691803
|
|
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_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014362.4(HIBCH):c.852del (p.Leu284fs)
|
rs1131692017
|
|
NM_014391.3(ANKRD1):c.154C>T (p.Pro52Ser)
|
rs397517248
|
|
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly)
|
rs397517249
|
|
NM_014391.3(ANKRD1):c.346-17_346-10del
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-29_346-12del
|
rs72003210
|
|
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)
|
rs74315433
|
|
NM_014739.3(BCLAF1):c.2272C>A (p.Pro758Thr)
|
rs77081633
|
|
NM_015340.4(LARS2):c.945G>A (p.Ser315=)
|
rs145135580
|
|
NM_015340.4(LARS2):c.945G>C (p.Ser315=)
|
rs145135580
|
|
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser)
|
rs545251395
|
|
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln)
|
rs727505188
|
|
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)
|
rs150586098
|
|
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)
|
rs770214071
|
|
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)
|
rs112033303
|
|
NM_016111.4(TELO2):c.2291+1G>A
|
rs76038845
|
|
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)
|
rs141804012
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs)
|
rs1162296750
|
|
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His)
|
rs200587502
|
|
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.3658G>C (p.Gly1220Arg)
|
rs146754758
|
|
NM_016239.4(MYO15A):c.4656-11del
|
rs767773802
|
|
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser)
|
rs200355614
|
|
NM_016239.4(MYO15A):c.8602-8_8602-5del
|
rs876657907
|
|
NM_016239.4(MYO15A):c.9303+1G>T
|
rs876657708
|
|
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser)
|
rs397517289
|
|
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)
|
rs372215131
|
|
NM_017433.5(MYO3A):c.1029A>G (p.Leu343=)
|
rs544012938
|
|
NM_017433.5(MYO3A):c.1053+11_1053+12inv
|
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=)
|
rs371741845
|
|
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=)
|
rs372169216
|
|
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly)
|
rs727504688
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile)
|
rs1804154342
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)
|
rs752176040
|
|
NM_020223.4(FAM20C):c.953_956+30dup
|
rs771282640
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020297.4(ABCC9):c.2644-11G>A
|
rs61926078
|
|
NM_020297.4(ABCC9):c.2644-11G>C
|
rs61926078
|
|
NM_020297.4(ABCC9):c.4450-5dup
|
rs4148680
|
|
NM_020297.4(ABCC9):c.817-7del
|
rs193922684
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)
|
rs77316810
|
|
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)
|
rs587777499
|
|
NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup)
|
rs876657812
|
|
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)
|
rs369053765
|
|
NM_022114.4(PRDM16):c.-14C>A
|
rs180925565
|
|
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=)
|
rs372189819
|
|
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro)
|
rs371654192
|
|
NM_022114.4(PRDM16):c.3366CGA[3] (p.Asp1125dup)
|
rs758774731
|
|
NM_022124.6(CDH23):c.-45AGGCG[2]
|
rs71012280
|
|
NM_022124.6(CDH23):c.-45AGGCG[4]
|
rs71012280
|
|
NM_022124.6(CDH23):c.1089C>T (p.Val363=)
|
rs556135873
|
|
NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del)
|
rs397517305
|
|
NM_022124.6(CDH23):c.2193G>C (p.Thr731=)
|
rs397517315
|
|
NM_022124.6(CDH23):c.2290-13del
|
rs397517316
|
|
NM_022124.6(CDH23):c.2954-5del
|
rs766850828
|
|
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)
|
rs377100683
|
|
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022124.6(CDH23):c.5712+1G>A
|
rs397517341
|
|
NM_022124.6(CDH23):c.572G>A (p.Arg191Gln)
|
rs372588663
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
NM_022124.6(CDH23):c.7483-1G>C
|
rs876657682
|
|
NM_024009.3(GJB3):c.109G>A (p.Val37Met)
|
rs148388884
|
|
NM_024009.3(GJB3):c.479G>A (p.Arg160His)
|
rs200055020
|
|
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)
|
rs727503069
|
|
NM_024022.2(TMPRSS3):c.617-3_617-2dup
|
rs34966432
|
|
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)
|
rs1264222654
|
|
NM_024334.3(TMEM43):c.163-3del
|
rs371706980
|
|
NM_024408.4(NOTCH2):c.17_18del (p.Pro6fs)
|
rs372504208
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
NM_024422.6(DSC2):c.2125+1del
|
rs794728072
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
NM_024422.6(DSC2):c.2398del (p.Ala800fs)
|
rs397517399
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024422.6(DSC2):c.70-11del
|
rs572309510
|
|
NM_024422.6(DSC2):c.942+13_942+15dup
|
rs5823783
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024747.6(HPS6):c.238dup (p.Asp80fs)
|
rs281865108
|
|
NM_024915.4(GRHL2):c.1764-12C>G
|
rs371424751
|
|
NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala)
|
rs397517415
|
|
NM_030662.4(MAP2K2):c.705+11G>A
|
rs202086678
|
|
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg)
|
rs368064728
|
|
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)
|
rs763469132
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn)
|
rs727504607
|
|
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=)
|
rs138029547
|
|
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs)
|
rs1400695342
|
|
NM_032119.4(ADGRV1):c.12506A>G (p.Tyr4169Cys)
|
rs577389548
|
|
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu)
|
rs571603222
|
|
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=)
|
rs41311745
|
|
NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe)
|
rs727503082
|
|
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu)
|
rs201747452
|
|
NM_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu)
|
rs753803615
|
|
NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile)
|
rs373391623
|
|
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)
|
rs41303350
|
|
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs)
|
rs727504644
|
|
NM_032119.4(ADGRV1):c.18803-4G>T
|
rs80335659
|
|
NM_032119.4(ADGRV1):c.3978T>A (p.Asp1326Glu)
|
rs546224817
|
|
NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser)
|
rs535038304
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)
|
rs41303352
|
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352
|
|
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp)
|
rs377475657
|
|
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)
|
rs111033452
|
|
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=)
|
rs556164327
|
|
NM_032119.4(ADGRV1):c.8198G>T (p.Arg2733Leu)
|
rs749383906
|
|
NM_032119.4(ADGRV1):c.8730+9_8730+10del
|
rs780180737
|
|
NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn)
|
rs201511311
|
|
NM_032122.5(DTNBP1):c.489-8dup
|
rs199770715
|
|
NM_032153.6(ZIC4):c.966G>C (p.Ser322=)
|
rs17509456
|
|
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter)
|
rs397514700
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe)
|
rs786205457
|
|
NM_033056.3(PCDH15):c.4368-13_4368-10dup
|
rs530804327
|
|
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs)
|
rs781231890
|
|
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
|
rs730880357
|
|
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs)
|
rs545191822
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_033056.4(PCDH15):c.5260TCTCCTCCT[1] (p.1754SPP[1])
|
rs727503363
|
|
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del)
|
rs397517463
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)
|
rs557936064
|
|
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del)
|
rs397517467
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1])
|
rs779691085
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu)
|
rs727505328
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly)
|
rs768580195
|
|
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=)
|
rs3746806
|
|
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del)
|
rs75967604
|
|
NM_053025.4(MYLK):c.4289-10dup
|
rs41431347
|
|
NM_080680.3(COL11A2):c.1119+1G>C
|
rs367706373
|
|
NM_080680.3(COL11A2):c.1427C>T (p.Ala476Val)
|
rs373983482
|
|
NM_080680.3(COL11A2):c.1666-11CCT[2]
|
rs147815324
|
|
NM_080680.3(COL11A2):c.2065C>T (p.Pro689Ser)
|
rs766440021
|
|
NM_080680.3(COL11A2):c.2529+13del
|
rs763299239
|
|
NM_080680.3(COL11A2):c.2584-5del
|
rs555657704
|
|
NM_080680.3(COL11A2):c.2629-15dup
|
rs727502942
|
|
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)
|
rs121912947
|
|
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=)
|
rs146093235
|
|
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser)
|
rs372806452
|
|
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser)
|
rs374515005
|
|
NM_080680.3(COL11A2):c.4786C>T (p.Arg1596Trp)
|
rs778962979
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)
|
rs727503394
|
|
NM_133261.3(GIPC3):c.69G>A (p.Ala23=)
|
rs150473323
|
|
NM_133261.3(GIPC3):c.821C>T (p.Ala274Val)
|
rs149028750
|
|
NM_133379.5(TTN):c.10559C>T (p.Pro3520Leu)
|
rs189445085
|
|
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])
|
rs397517815
|
|
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del)
|
rs376040866
|
|
NM_138691.3(TMC1):c.741+1G>A
|
rs1588067173
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_139319.3(SLC17A8):c.1298-14dup
|
rs730880358
|
|
NM_144498.4(OSBPL2):c.*23C>G
|
rs115390538
|
|
NM_144498.4(OSBPL2):c.*23C>T
|
rs115390538
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)
|
rs397517848
|
|
NM_144573.4(NEXN):c.299-14del
|
rs397517855
|
|
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
|
rs727505124
|
|
NM_144672.4(OTOA):c.1880C>G (p.Pro627Arg)
|
rs727503351
|
|
NM_144672.4(OTOA):c.746_751delinsA (p.Ser249fs)
|
rs876657716
|
|
NM_144997.7(FLCN):c.1177-5_1177-3del
|
rs767671406
|
|
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro)
|
rs876657646
|
|
NM_147196.3(TMIE):c.367AAG[10] (p.Lys131dup)
|
rs10578999
|
|
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del)
|
rs10578999
|
|
NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr)
|
rs727503710
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_153676.4(USH1C):c.496+13A>G
|
rs111033277
|
|
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala)
|
rs1336307815
|
|
NM_170707.4(LMNA):c.1122C>T (p.His374=)
|
rs143715750
|
|
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.346C>T (p.Leu116=)
|
rs876657491
|
|
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro)
|
rs397517902
|
|
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)
|
rs397517912
|
|
NM_172245.4(CSF2RA):c.*49G>T
|
rs28722602
|
|
NM_172245.4(CSF2RA):c.774_780+10dup
|
rs377345813
|
|
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro)
|
rs397517927
|
|
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)
|
rs544952984
|
|
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu)
|
rs778849441
|
|
NM_177438.3(DICER1):c.4102dup (p.Arg1368fs)
|
rs1890722878
|
|
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser)
|
rs138707536
|
|
NM_178452.6(DNAAF1):c.864-17_864-14del
|
rs141073777
|
|
NM_182895.5(SCARF2):c.2240dup (p.Gly749fs)
|
rs5844420
|
|
NM_182895.5(SCARF2):c.2292dup (p.Glu765fs)
|
rs5844418
|
|
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)
|
rs104894497
|
|
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)
|
rs80356585
|
|
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter)
|
rs200864338
|
|
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu)
|
rs111033392
|
|
NM_194248.3(OTOF):c.51C>T (p.Gly17=)
|
rs142333075
|
|
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp)
|
rs142748621
|
|
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter)
|
rs111033447
|
|
NM_194323.3(OTOF):c.3624del (p.Leu1209fs)
|
rs727505359
|
|
NM_198239.2(CCN6):c.740_741del (p.Cys247fs)
|
rs727503755
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.2658C>A (p.Thr886=)
|
rs371744235
|
|
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=)
|
rs6992333
|
|
NM_201384.3(PLEC):c.2304+9dup
|
rs35671527
|
|
NM_201384.3(PLEC):c.378T>C (p.Ala126=)
|
rs6993938
|
|
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe)
|
rs372858877
|
|
NM_206883.2(SLC26A5):c.292+8_292+9dup
|
rs112791865
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu)
|
rs35309576
|
|
NM_206933.4(USH2A):c.12294+1G>C
|
rs111033526
|
|
NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu)
|
rs375223901
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe)
|
rs397517985
|
|
NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile)
|
rs111033500
|
|
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)
|
rs111033417
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=)
|
rs373694614
|
|
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)
|
rs397517987
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
|
rs727505155
|
|
NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala)
|
rs772955674
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.2809+2T>A
|
rs1553320397
|
|
NM_206933.4(USH2A):c.2880T>C (p.Asn960=)
|
rs151177516
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.4252-36CTTT[5]
|
rs372388546
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)
|
rs397518025
|
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His)
|
rs189748047
|
|
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=)
|
rs397518040
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
NM_206933.4(USH2A):c.9258+3T>C
|
rs1553268427
|
|
NM_206937.2(LIG4):c.879_883del (p.Asn294fs)
|
rs751070095
|
|
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)
|
rs11570255
|
|
NM_207034.3(EDN3):c.565dup (p.Thr189fs)
|
rs11570344
|
|
NM_207352.4(CYP4V2):c.802-8_810delinsGC
|
rs207482233
|
|
NM_213599.3(ANO5):c.364-8del
|
rs146983312
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|
NR_178195.1(LFNG):n.265_268GATG[6]
|
rs34637446
|
|
Single allele
|
|
|
m.1095T>C
|
rs267606618
|
|
m.1193T>C
|
rs111033321
|
|
m.1393G>A
|
rs111033325
|
|
m.1442G>A
|
rs28358573
|
|
m.7468C>T
|
rs111033173
|
|