NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
0.98540
|
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr)
|
rs217086
|
0.87257
|
NM_001308093.3(GATA4):c.617-113T>C
|
rs3735819
|
0.80128
|
NM_004836.7(EIF2AK3):c.439-170A>G
|
rs7571971
|
0.77862
|
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)
|
rs1494558
|
0.68368
|
NM_000170.3(GLDC):c.*7G>C
|
rs2228098
|
0.66615
|
NM_000448.3(RAG1):c.746A>G (p.His249Arg)
|
rs3740955
|
0.48211
|
NM_000243.3(MEFV):c.1764G>A (p.Pro588=)
|
rs1231122
|
0.41230
|
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)
|
rs5956583
|
0.38953
|
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=)
|
rs774726264
|
0.33333
|
NM_052845.4(MMAB):c.57C>A (p.Arg19=)
|
rs10774774
|
0.31358
|
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
|
rs6647
|
0.31278
|
NM_000074.3(CD40LG):c.410-13T>C
|
rs3092923
|
0.27747
|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)
|
rs1799977
|
0.23048
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
NR_003051.4(RMRP):n.158G>C
|
rs7021463
|
0.17549
|
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)
|
rs1805388
|
0.16468
|
NM_021098.3(CACNA1H):c.3846-6A>C
|
rs780882373
|
0.14047
|
NM_000265.7(NCF1):c.345C>T (p.Leu115=)
|
rs17356100
|
0.12720
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu)
|
rs534399
|
0.08522
|
NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His)
|
rs12211410
|
0.08362
|
NM_000041.2(APOE):c.526C>T (p.Arg176Cys)
|
rs7412
|
0.07986
|
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser)
|
rs9878928
|
0.07568
|
NM_000137.4(FAH):c.267G>C (p.Leu89=)
|
rs33929922
|
0.07529
|
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)
|
rs28711516
|
0.06950
|
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)
|
rs72657698
|
0.06836
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)
|
rs515299
|
0.06393
|
NM_000335.5(SCN5A):c.274-24C>T
|
rs7627488
|
0.06378
|
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=)
|
rs79899502
|
0.05705
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_206937.2(LIG4):c.8C>T (p.Ala3Val)
|
rs1805389
|
0.04996
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_014049.5(ACAD9):c.-44_-41dup
|
rs387906242
|
0.04863
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
NM_004113.6(FGF12):c.229-7C>T
|
rs79608878
|
0.04458
|
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu)
|
rs143090627
|
0.04452
|
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)
|
rs34671418
|
0.04349
|
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser)
|
rs17470454
|
0.04338
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_032545.4(CFC1):c.588C>A (p.Pro196=)
|
rs587780885
|
0.03574
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser)
|
rs76793093
|
0.03409
|
NM_001171.6(ABCC6):c.346-6G>A
|
rs55778939
|
0.03265
|
NM_000062.3(SERPING1):c.-21T>C
|
rs28362944
|
0.03250
|
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln)
|
rs35203186
|
0.03124
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)
|
rs34373049
|
0.03090
|
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala)
|
rs34536443
|
0.02850
|
NM_002354.3(EPCAM):c.492-5T>C
|
rs78608315
|
0.02826
|
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His)
|
rs59035258
|
0.02701
|
NM_021625.5(TRPV4):c.2459-9T>G
|
rs115373018
|
0.02700
|
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu)
|
rs2295418
|
0.02669
|
NM_024496.4(IRF2BPL):c.336_346del (p.Gln113fs)
|
rs776735350
|
0.02660
|
NM_002661.5(PLCG2):c.770A>T (p.His257Leu)
|
rs45443101
|
0.02615
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
NM_001386125.1(OBSCN):c.2894G>A (p.Arg965Lys)
|
rs61560753
|
0.02514
|
NM_000069.3(CACNA1S):c.2063+7G>T
|
rs79984703
|
0.02430
|
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg)
|
rs114772012
|
0.02384
|
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)
|
rs28413664
|
0.02366
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02363
|
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys)
|
rs72989738
|
0.02353
|
NM_000334.4(SCN4A):c.3720+10A>G
|
rs111679484
|
0.02281
|
NM_003611.3(OFD1):c.2387+11C>T
|
rs140369491
|
0.02280
|
NM_001365536.1(SCN9A):c.3802-8T>C
|
rs76550960
|
0.02262
|
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg)
|
rs116262672
|
0.02238
|
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys)
|
rs111033430
|
0.02235
|
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val)
|
rs61733129
|
0.02206
|
NM_005373.3(MPL):c.340G>A (p.Val114Met)
|
rs12731981
|
0.02191
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)
|
rs4802584
|
0.02143
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_001267550.2(TTN):c.37040-13A>G
|
rs760603937
|
0.02053
|
NM_001164508.2(NEB):c.16021T>C (p.Leu5341=)
|
rs796103760
|
0.02016
|
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)
|
rs3731249
|
0.02007
|
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val)
|
rs75191159
|
0.01965
|
NM_001365951.3(KIF1B):c.2115+6360G>T
|
rs41274458
|
0.01961
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser)
|
rs9672065
|
0.01930
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val)
|
rs72719663
|
0.01896
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile)
|
rs62347360
|
0.01871
|
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile)
|
rs762149243
|
0.01857
|
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His)
|
rs117936904
|
0.01806
|
NM_000265.7(NCF1):c.496A>G (p.Asn166Asp)
|
rs782555266
|
0.01786
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01772
|
NM_001199107.2(TBC1D24):c.1526-20C>T
|
rs114367256
|
0.01755
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NR_001566.1(TERC):n.58G>A
|
rs113487931
|
0.01733
|
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)
|
rs61340537
|
0.01730
|
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys)
|
rs35037984
|
0.01713
|
NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro)
|
rs79693964
|
0.01703
|
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp)
|
rs2228292
|
0.01679
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)
|
rs11568438
|
0.01617
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln)
|
rs111656822
|
0.01603
|
NM_000186.4(CFH):c.477T>C (p.Ser159=)
|
rs34940854
|
0.01586
|
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala)
|
rs56063729
|
0.01586
|
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys)
|
rs113488591
|
0.01568
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_001134888.3(RTL1):c.1672C>A (p.Pro558Thr)
|
rs41286560
|
0.01542
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)
|
rs9924241
|
0.01528
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_000642.3(AGL):c.82+1565T>G
|
rs145049634
|
0.01521
|
NM_000186.4(CFH):c.245-7G>A
|
rs35814900
|
0.01519
|
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)
|
rs66523653
|
0.01518
|
NM_001171.6(ABCC6):c.3507-3C>T
|
rs41278172
|
0.01517
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys)
|
rs62618736
|
0.01503
|
NM_001291303.3(FAT4):c.1101A>G (p.Val367=)
|
rs57692448
|
0.01498
|
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala)
|
rs3025962
|
0.01491
|
NM_015338.6(ASXL1):c.374-9C>T
|
rs6087903
|
0.01488
|
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_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
|
rs74874677
|
0.01472
|
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln)
|
rs3135103
|
0.01472
|
NM_001267550.2(TTN):c.40141+7G>A
|
rs77960621
|
0.01470
|
NM_198578.4(LRRK2):c.4317+12del
|
rs200829235
|
0.01470
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)
|
rs17292650
|
0.01420
|
NM_013964.5(NRG1):c.1633C>T (p.Arg545Trp)
|
rs80127039
|
0.01399
|
NM_000026.4(ADSL):c.440A>T (p.Lys147Met)
|
rs11089991
|
0.01397
|
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)
|
rs61748814
|
0.01397
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val)
|
rs3087476
|
0.01375
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn)
|
rs72955213
|
0.01357
|
NM_032545.4(CFC1):c.606G>C (p.Leu202=)
|
rs587780887
|
0.01351
|
NM_002838.5(PTPRC):c.1710T>A (p.His570Gln)
|
rs12136658
|
0.01344
|
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)
|
rs34625105
|
0.01344
|
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg)
|
rs34661425
|
0.01341
|
NM_032122.5(DTNBP1):c.886C>T (p.Pro296Ser)
|
rs74907982
|
0.01341
|
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu)
|
rs41273175
|
0.01334
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)
|
rs17721059
|
0.01316
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_000053.4(ATP7B):c.1707+9T>C
|
rs114449708
|
0.01274
|
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met)
|
rs114190041
|
0.01251
|
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu)
|
rs78619145
|
0.01249
|
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)
|
rs35019869
|
0.01231
|
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)
|
rs41276894
|
0.01215
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_000271.5(NPC1):c.3246-20G>A
|
rs6507717
|
0.01199
|
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu)
|
rs72650053
|
0.01188
|
NM_198525.3(KIF7):c.2481C>T (p.Asn827=)
|
rs35837280
|
0.01186
|
NM_003722.5(TP63):c.1652+14A>C
|
rs150685395
|
0.01158
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His)
|
rs61750053
|
0.01134
|
NM_005591.4(MRE11):c.1994+10G>A
|
rs1805366
|
0.01130
|
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)
|
rs117217073
|
0.01112
|
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=)
|
rs59120265
|
0.01110
|
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)
|
rs189089167
|
0.01110
|
NM_032119.4(ADGRV1):c.7945+6C>T
|
rs139278305
|
0.01100
|
NM_001377265.1(MAPT):c.862G>A (p.Gly288Arg)
|
rs76375268
|
0.01093
|
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=)
|
rs2227970
|
0.01091
|
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln)
|
rs61729839
|
0.01085
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)
|
rs34629171
|
0.01070
|
NM_001276345.2(TNNT2):c.294+7G>A
|
rs45490292
|
0.01066
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_002335.4(LRP5):c.3918G>A (p.Ala1306=)
|
rs11574425
|
0.01064
|
NM_006267.5(RANBP2):c.5175A>G (p.Glu1725=)
|
rs535428027
|
0.01063
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)
|
rs113155945
|
0.01061
|
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)
|
rs115852080
|
0.01060
|
NM_002633.3(PGM1):c.247-5664G>A
|
rs77043134
|
0.01056
|
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)
|
rs16019
|
0.01053
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_002834.5(PTPN11):c.525+12G>C
|
rs41304351
|
0.01035
|
NM_001035.3(RYR2):c.11880+13_11880+16del
|
rs199562036
|
0.01032
|
NM_005477.3(HCN4):c.1683C>A (p.Gly561=)
|
rs62641690
|
0.01030
|
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)
|
rs117761837
|
0.01028
|
NM_152564.5(VPS13B):c.11044+13G>A
|
rs116819080
|
0.01028
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)
|
rs1800269
|
0.01009
|
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)
|
rs11553518
|
0.01008
|
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly)
|
rs117412802
|
0.01005
|
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val)
|
rs1127291
|
0.01003
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_000250.2(MPO):c.752T>C (p.Met251Thr)
|
rs56378716
|
0.00999
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
NM_152246.3(CPT1B):c.1876-15A>G
|
rs41309651
|
0.00986
|
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)
|
rs141166141
|
0.00982
|
NM_006059.4(LAMC3):c.454C>T (p.Arg152Cys)
|
rs45628035
|
0.00975
|
NM_002661.5(PLCG2):c.82A>T (p.Met28Leu)
|
rs61749044
|
0.00973
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_007325.5(GRIA3):c.1501-8T>A
|
rs139058646
|
0.00969
|
NM_018100.4(EFHC1):c.881G>A (p.Arg294His)
|
rs1570624
|
0.00969
|
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr)
|
rs115694169
|
0.00968
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
NM_152705.3(POLR1D):c.278A>G (p.His93Arg)
|
rs118191175
|
0.00967
|
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=)
|
rs10410289
|
0.00964
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
|
rs114814747
|
0.00964
|
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=)
|
rs61734313
|
0.00959
|
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg)
|
rs111449472
|
0.00935
|
NM_019892.6(INPP5E):c.1387+19C>T
|
rs114698406
|
0.00926
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)
|
rs73025979
|
0.00908
|
NM_153240.5(NPHP3):c.450G>A (p.Ala150=)
|
rs78527322
|
0.00906
|
NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu)
|
rs112433249
|
0.00905
|
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln)
|
rs57451017
|
0.00901
|
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)
|
rs5744991
|
0.00898
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
0.00894
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_001127198.5(TMC6):c.610C>T (p.Arg204Trp)
|
rs139654750
|
0.00880
|
NM_000540.3(RYR1):c.10259+7G>A
|
rs143752962
|
0.00875
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu)
|
rs3188691
|
0.00856
|
NM_001061.7(TBXAS1):c.1246C>G (p.Gln416Glu)
|
rs4528
|
0.00853
|
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val)
|
rs113439353
|
0.00852
|
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)
|
rs5030672
|
0.00847
|
NM_014339.7(IL17RA):c.1819G>A (p.Glu607Lys)
|
rs28376631
|
0.00845
|
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=)
|
rs34422412
|
0.00842
|
NM_012188.5(FOXI1):c.1014G>A (p.Ala338=)
|
rs55685928
|
0.00841
|
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=)
|
rs61736932
|
0.00840
|
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln)
|
rs80097077
|
0.00825
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=)
|
rs139132509
|
0.00802
|
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser)
|
rs75472618
|
0.00802
|
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)
|
rs149363094
|
0.00792
|
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp)
|
rs114851469
|
0.00786
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470
|
0.00784
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
NM_182961.4(SYNE1):c.12079-12G>T
|
rs73783853
|
0.00771
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)
|
rs111033429
|
0.00767
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_002440.4(MSH4):c.2520G>C (p.Glu840Asp)
|
rs114093703
|
0.00759
|
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)
|
rs61745086
|
0.00748
|
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys)
|
rs62001050
|
0.00745
|
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)
|
rs59172778
|
0.00742
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln)
|
rs183329050
|
0.00737
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
NM_000501.4(ELN):c.1622-13C>T
|
rs41362346
|
0.00728
|
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)
|
rs1801505
|
0.00719
|
NM_002335.4(LRP5):c.687-8G>A
|
rs190810239
|
0.00718
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)
|
rs179363896
|
0.00715
|
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser)
|
rs41292285
|
0.00715
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=)
|
rs16059
|
0.00712
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_005666.4(CFHR2):c.253+13C>T
|
rs112814481
|
0.00696
|
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)
|
rs55984131
|
0.00696
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_006267.5(RANBP2):c.2351G>A (p.Arg784Lys)
|
rs2912838
|
0.00684
|
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)
|
rs75559202
|
0.00684
|
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=)
|
rs56710146
|
0.00680
|
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)
|
rs114472821
|
0.00679
|
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)
|
rs146708884
|
0.00677
|
NM_000219.6(KCNE1):c.84G>A (p.Ser28=)
|
rs17173510
|
0.00676
|
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=)
|
rs117178504
|
0.00672
|
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=)
|
rs2229485
|
0.00669
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_007126.5(VCP):c.1082-9G>T
|
rs12349922
|
0.00667
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
NM_030787.4(CFHR5):c.429T>C (p.Thr143=)
|
rs140215003
|
0.00665
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_000064.4(C3):c.1976-19C>T
|
rs11569433
|
0.00656
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_153240.5(NPHP3):c.1887+6G>A
|
rs79113972
|
0.00654
|
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)
|
rs143119940
|
0.00650
|
NM_032444.4(SLX4):c.1803G>A (p.Ser601=)
|
rs144892556
|
0.00649
|
NM_001845.6(COL4A1):c.1121-18G>A
|
rs139885514
|
0.00644
|
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=)
|
rs113099601
|
0.00643
|
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr)
|
rs61735358
|
0.00641
|
NM_152468.5(TMC8):c.279G>A (p.Gly93=)
|
rs201749146
|
0.00640
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
NM_032444.4(SLX4):c.1755C>T (p.Pro585=)
|
rs114016359
|
0.00638
|
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)
|
rs35738915
|
0.00636
|
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)
|
rs146578303
|
0.00633
|
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)
|
rs11915053
|
0.00629
|
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln)
|
rs61735828
|
0.00627
|
NM_015937.6(PIGT):c.367G>T (p.Val123Leu)
|
rs141420243
|
0.00626
|
NM_152384.3(BBS5):c.620G>A (p.Arg207His)
|
rs35487251
|
0.00625
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr)
|
rs61751992
|
0.00618
|
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)
|
rs28763961
|
0.00618
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val)
|
rs77106136
|
0.00617
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
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_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)
|
rs28364441
|
0.00600
|
NM_015102.5(NPHP4):c.1442-7C>T
|
rs146078470
|
0.00599
|
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr)
|
rs36083134
|
0.00599
|
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)
|
rs4547
|
0.00598
|
NM_001018020.2(TPM1):c.*31G>A
|
rs11558748
|
0.00598
|
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=)
|
rs116054301
|
0.00596
|
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr)
|
rs148651456
|
0.00596
|
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=)
|
rs8178249
|
0.00590
|
NM_000466.3(PEX1):c.3720C>T (p.His1240=)
|
rs34825053
|
0.00582
|
NM_032119.4(ADGRV1):c.2553+11T>A
|
rs73181640
|
0.00580
|
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)
|
rs41316723
|
0.00578
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
0.00573
|
NM_014908.4(DOLK):c.1dup (p.Met1fs)
|
rs531969689
|
0.00573
|
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)
|
rs34132016
|
0.00569
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_153252.5(BRWD3):c.2325+5G>A
|
rs186391561
|
0.00565
|
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)
|
rs138123155
|
0.00559
|
NM_000062.3(SERPING1):c.751C>T (p.Leu251=)
|
rs35788383
|
0.00558
|
NM_021098.3(CACNA1H):c.5324-4G>A
|
rs57687113
|
0.00558
|
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)
|
rs140734968
|
0.00558
|
NM_001126108.2(SLC12A3):c.2857-6G>A
|
rs117981500
|
0.00557
|
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser)
|
rs5743271
|
0.00557
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln)
|
rs138964358
|
0.00550
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)
|
rs2307450
|
0.00547
|
NM_020207.7(ERCC6L2):c.3076G>C (p.Val1026Leu)
|
rs149922601
|
0.00545
|
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)
|
rs113808165
|
0.00541
|
NM_001308093.3(GATA4):c.912+25G>A
|
rs147860174
|
0.00539
|
NM_001035.3(RYR2):c.14809-15C>G
|
rs790897
|
0.00538
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)
|
rs140916001
|
0.00537
|
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
0.00536
|
NM_000439.5(PCSK1):c.397-10T>C
|
rs142423997
|
0.00535
|
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=)
|
rs11999752
|
0.00533
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
NM_001365951.3(KIF1B):c.2115+6956A>G
|
rs148481786
|
0.00525
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_006267.5(RANBP2):c.73-6T>A
|
rs201485597
|
0.00516
|
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=)
|
rs11999256
|
0.00516
|
NM_001113491.2(SEPTIN9):c.1573+9C>T
|
rs148975193
|
0.00515
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=)
|
rs143195637
|
0.00513
|
NM_000335.5(SCN5A):c.3508+10C>T
|
rs41258454
|
0.00510
|
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=)
|
rs35450031
|
0.00509
|
NM_015909.4(NBAS):c.711T>C (p.His237=)
|
rs75347158
|
0.00508
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
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_001366385.1(CARD14):c.2496C>T (p.Leu832=)
|
rs139789664
|
0.00506
|
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe)
|
rs143708376
|
0.00505
|
NM_018941.4(CLN8):c.-123-4T>C
|
rs114189810
|
0.00505
|
NM_000522.5(HOXA13):c.480G>A (p.Ala160=)
|
rs537218194
|
0.00504
|
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His)
|
rs112010940
|
0.00503
|
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser)
|
rs113897824
|
0.00503
|
NM_006267.5(RANBP2):c.7849+4A>G
|
rs2949961
|
0.00502
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_015158.5(KANK1):c.3553+5G>A
|
rs114914725
|
0.00501
|
NM_020376.4(PNPLA2):c.919+4C>T
|
rs148314086
|
0.00500
|
NM_174936.4(PCSK9):c.720C>T (p.Gly240=)
|
rs41297883
|
0.00500
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys)
|
rs147062294
|
0.00492
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg)
|
rs72824905
|
0.00491
|
NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=)
|
rs35003467
|
0.00491
|
NM_005629.4(SLC6A8):c.1496-5C>T
|
rs200695210
|
0.00491
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr)
|
rs145886643
|
0.00488
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)
|
rs767340839
|
0.00487
|
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)
|
rs147891446
|
0.00486
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
NM_006267.5(RANBP2):c.2982A>T (p.Ala994=)
|
rs61748148
|
0.00486
|
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_000254.3(MTR):c.3599-18C>T
|
rs116444161
|
0.00483
|
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)
|
rs111595697
|
0.00482
|
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=)
|
rs116302604
|
0.00481
|
NM_001371596.2(MFSD8):c.199-8T>C
|
rs112721309
|
0.00481
|
NM_000088.4(COL1A1):c.612C>T (p.Pro204=)
|
rs138078016
|
0.00480
|
NM_016032.4(ZDHHC9):c.-204+6G>T
|
rs3747339
|
0.00480
|
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)
|
rs143312971
|
0.00478
|
NM_080749.4(NEURL2):c.406dup (p.Ser136fs)
|
rs201802475
|
0.00478
|
NM_002204.4(ITGA3):c.929C>T (p.Ala310Val)
|
rs61730088
|
0.00476
|
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)
|
rs34211419
|
0.00473
|
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys)
|
rs61758995
|
0.00472
|
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala)
|
rs112524097
|
0.00471
|
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr)
|
rs144830740
|
0.00471
|
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)
|
rs41289636
|
0.00470
|
NM_000188.3(HK1):c.2007G>A (p.Glu669=)
|
rs117797901
|
0.00468
|
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu)
|
rs16991652
|
0.00468
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868
|
0.00467
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)
|
rs115321485
|
0.00466
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_024426.6(WT1):c.1114-9T>C
|
rs5030274
|
0.00465
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)
|
rs55862001
|
0.00462
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_004977.3(KCNC3):c.984G>A (p.Pro328=)
|
rs114192110
|
0.00461
|
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)
|
rs140374206
|
0.00461
|
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_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_013236.4(ATXN10):c.894+10G>T
|
rs141434930
|
0.00457
|
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)
|
rs113493395
|
0.00455
|
NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser)
|
rs2233855
|
0.00454
|
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met)
|
rs138652708
|
0.00454
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_006197.4(PCM1):c.2715C>T (p.Asp905=)
|
rs34504407
|
0.00451
|
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn)
|
rs150218102
|
0.00449
|
NM_001083116.3(PRF1):c.96G>A (p.Lys32=)
|
rs2228018
|
0.00448
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
NM_003183.6(ADAM17):c.148A>G (p.Ile50Val)
|
rs61754178
|
0.00443
|
NM_020631.6(PLEKHG5):c.440-6A>G
|
rs202049535
|
0.00443
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_014000.3(VCL):c.1317T>C (p.Ser439=)
|
rs71579355
|
0.00442
|
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)
|
rs41300676
|
0.00441
|
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=)
|
rs116057134
|
0.00441
|
NM_001723.7(DST):c.5780A>G (p.His1927Arg)
|
rs12209266
|
0.00441
|
NM_003193.5(TBCE):c.101-5G>A
|
rs113829976
|
0.00440
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)
|
rs41316725
|
0.00431
|
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)
|
rs145526996
|
0.00431
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_001127198.5(TMC6):c.1276G>A (p.Gly426Arg)
|
rs61744921
|
0.00430
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
NM_001737.5(C9):c.387A>C (p.Ser129=)
|
rs147450097
|
0.00427
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_004371.4(COPA):c.2263+7A>G
|
rs116596416
|
0.00427
|
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met)
|
rs186848953
|
0.00427
|
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr)
|
rs192476468
|
0.00426
|
NM_000186.4(CFH):c.2850G>T (p.Gln950His)
|
rs149474608
|
0.00425
|
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg)
|
rs141088838
|
0.00423
|
NM_001039569.2(AP1S3):c.95C>T (p.Thr32Ile)
|
rs78536455
|
0.00422
|
NM_000395.3(CSF2RB):c.1119G>A (p.Glu373=)
|
rs144452731
|
0.00421
|
NM_001113491.2(SEPTIN9):c.1574-10C>T
|
rs192537441
|
0.00421
|
NM_001372051.1(CASP8):c.306-1918T>C
|
rs11897628
|
0.00421
|
NM_001569.4(IRAK1):c.1874C>T (p.Thr625Met)
|
rs35638718
|
0.00421
|
NM_002470.4(MYH3):c.690C>G (p.Ala230=)
|
rs147148934
|
0.00421
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln)
|
rs202103485
|
0.00418
|
NM_015909.4(NBAS):c.3282T>C (p.His1094=)
|
rs139891797
|
0.00418
|
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=)
|
rs75413741
|
0.00415
|
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)
|
rs142027794
|
0.00415
|
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)
|
rs200970763
|
0.00414
|
NM_002471.4(MYH6):c.4651-12A>C
|
rs193922653
|
0.00413
|
NM_173689.7(CRB2):c.1428T>G (p.Thr476=)
|
rs142345530
|
0.00412
|
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=)
|
rs149879790
|
0.00411
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_001377405.1(ATXN7):c.*14C>A
|
rs180696871
|
0.00411
|
NM_013266.4(CTNNA3):c.99+11C>T
|
rs115451937
|
0.00411
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_203447.4(DOCK8):c.3701-17C>T
|
rs376111035
|
0.00409
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)
|
rs6874630
|
0.00407
|
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr)
|
rs57335729
|
0.00406
|
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=)
|
rs1615676
|
0.00405
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly)
|
rs77323602
|
0.00404
|
NM_001710.6(CFB):c.1408+7A>C
|
rs4151656
|
0.00403
|
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)
|
rs138108344
|
0.00403
|
NM_005634.3(SOX3):c.157G>C (p.Val53Leu)
|
rs200361128
|
0.00403
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_003705.5(SLC25A12):c.1458G>A (p.Ala486=)
|
rs142179562
|
0.00399
|
NM_003954.5(MAP3K14):c.2434-10G>A
|
rs34836788
|
0.00399
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_014967.5(FAN1):c.1944-4T>C
|
rs200971774
|
0.00399
|
NM_080424.4(SP110):c.1464C>T (p.Cys488=)
|
rs147355697
|
0.00399
|
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)
|
rs141340867
|
0.00398
|
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=)
|
rs141413620
|
0.00398
|
NM_001163809.2(WDR81):c.4843G>A (p.Gly1615Arg)
|
rs143688446
|
0.00396
|
NM_005340.7(HINT1):c.117T>C (p.Leu39=)
|
rs78949626
|
0.00394
|
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala)
|
rs145294917
|
0.00394
|
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)
|
rs141245482
|
0.00392
|
NM_001286577.2(C2CD3):c.5082G>T (p.Gln1694His)
|
rs142214951
|
0.00391
|
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)
|
rs41289628
|
0.00391
|
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser)
|
rs145613857
|
0.00391
|
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe)
|
rs76014951
|
0.00391
|
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln)
|
rs150814749
|
0.00390
|
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)
|
rs148990271
|
0.00389
|
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)
|
rs141101590
|
0.00388
|
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala)
|
rs79901179
|
0.00388
|
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=)
|
rs201531206
|
0.00386
|
NM_021098.3(CACNA1H):c.4224-6C>T
|
rs72552039
|
0.00386
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
NM_007074.4(CORO1A):c.804C>T (p.Ser268=)
|
rs149867063
|
0.00385
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000285.4(PEPD):c.624+16G>A
|
rs142369843
|
0.00383
|
NM_000642.3(AGL):c.3384G>A (p.Ala1128=)
|
rs149393587
|
0.00383
|
NM_015909.4(NBAS):c.4659+12C>G
|
rs114354862
|
0.00382
|
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=)
|
rs7728764
|
0.00381
|
NM_005428.4(VAV1):c.1047G>A (p.Glu349=)
|
rs61750001
|
0.00381
|
NM_014231.5(VAMP1):c.*1630C>T
|
rs71584837
|
0.00380
|
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)
|
rs139432601
|
0.00379
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_015909.4(NBAS):c.4847A>G (p.His1616Arg)
|
rs35295359
|
0.00378
|
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=)
|
rs61750051
|
0.00377
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_017491.5(WDR1):c.182T>C (p.Val61Ala)
|
rs200525851
|
0.00377
|
NM_017999.5(RNF31):c.415G>A (p.Glu139Lys)
|
rs45466595
|
0.00376
|
NM_000642.3(AGL):c.2883A>G (p.Arg961=)
|
rs113625417
|
0.00375
|
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)
|
rs41313282
|
0.00375
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
NM_183235.3(RAB27A):c.594G>A (p.Val198=)
|
rs141222527
|
0.00374
|
NM_000301.5(PLG):c.1281G>A (p.Arg427=)
|
rs149909079
|
0.00373
|
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His)
|
rs111753827
|
0.00373
|
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)
|
rs45586138
|
0.00372
|
NM_000271.5(NPC1):c.1947+14_1947+15insC
|
rs201170241
|
0.00371
|
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)
|
rs141756032
|
0.00371
|
NM_001271.4(CHD2):c.2577+7T>C
|
rs146944583
|
0.00371
|
NM_001037171.2(ACOT9):c.593A>G (p.His198Arg)
|
rs148179443
|
0.00370
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_004260.4(RECQL4):c.1704+9C>T
|
rs35876881
|
0.00365
|
NM_021102.4(SPINT2):c.592+3A>G
|
rs111990687
|
0.00365
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_001267550.2(TTN):c.66160+16G>A
|
rs149714835
|
0.00364
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_021098.3(CACNA1H):c.3331G>A (p.Gly1111Arg)
|
rs59529743
|
0.00364
|
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln)
|
rs3918020
|
0.00363
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_002225.5(IVD):c.551-18C>T
|
rs142064071
|
0.00363
|
NM_014967.5(FAN1):c.718G>A (p.Glu240Lys)
|
rs150748572
|
0.00363
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=)
|
rs139512700
|
0.00361
|
NM_015662.3(IFT172):c.4540-6C>T
|
rs146140583
|
0.00361
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00359
|
NM_004946.3(DOCK2):c.4295+9C>T
|
rs115134653
|
0.00358
|
NM_197947.3(CLEC7A):c.547C>T (p.Leu183Phe)
|
rs140318683
|
0.00358
|
NM_001365951.3(KIF1B):c.2115+6183T>C
|
rs149241091
|
0.00357
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)
|
rs148509395
|
0.00356
|
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile)
|
rs34908107
|
0.00355
|
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)
|
rs113861754
|
0.00355
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
NM_016343.4(CENPF):c.4182A>G (p.Thr1394=)
|
rs150367049
|
0.00354
|
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)
|
rs25409
|
0.00354
|
NM_004260.4(RECQL4):c.543G>A (p.Gln181=)
|
rs34159914
|
0.00353
|
NM_012073.5(CCT5):c.1059G>A (p.Leu353=)
|
rs114634318
|
0.00353
|
NM_000195.5(HPS1):c.*12C>T
|
rs112544050
|
0.00352
|
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln)
|
rs145993158
|
0.00351
|
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)
|
rs149028586
|
0.00351
|
NM_000702.4(ATP1A2):c.2943-15C>T
|
rs111510835
|
0.00350
|
NM_001243133.2(NLRP3):c.397+7G>A
|
rs192297357
|
0.00350
|
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)
|
rs140501902
|
0.00349
|
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp)
|
rs28910273
|
0.00349
|
NM_000631.5(NCF4):c.343-4A>G
|
rs79312013
|
0.00347
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_005235.3(ERBB4):c.2745C>T (p.Thr915=)
|
rs75536447
|
0.00347
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu)
|
rs7637863
|
0.00345
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His)
|
rs187956469
|
0.00341
|
NM_014981.3(MYH15):c.3361C>T (p.Arg1121Ter)
|
rs61744539
|
0.00341
|
NM_003661.4(APOL1):c.851G>A (p.Arg284His)
|
rs150685787
|
0.00340
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_001018005.2(TPM1):c.*76A>G
|
rs140658011
|
0.00339
|
NM_004409.5(DMPK):c.882+8C>T
|
rs141629958
|
0.00339
|
NM_000170.3(GLDC):c.678C>T (p.His226=)
|
rs12006003
|
0.00338
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
NM_000252.3(MTM1):c.136+9C>T
|
rs191553188
|
0.00337
|
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=)
|
rs34451610
|
0.00337
|
NM_003661.4(APOL1):c.809G>A (p.Gly270Asp)
|
rs73403889
|
0.00337
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
NM_001540.5(HSPB1):c.9G>A (p.Glu3=)
|
rs77586767
|
0.00336
|
NM_006393.3(NEBL):c.480+3A>G
|
rs71578983
|
0.00336
|
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)
|
rs148934699
|
0.00336
|
NM_007315.4(STAT1):c.633+6T>A
|
rs45459703
|
0.00335
|
NM_000448.3(RAG1):c.2751G>A (p.Gln917=)
|
rs150721661
|
0.00334
|
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu)
|
rs192402741
|
0.00334
|
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)
|
rs201059992
|
0.00334
|
NM_018941.4(CLN8):c.777T>C (p.Asn259=)
|
rs34814682
|
0.00334
|
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)
|
rs116908219
|
0.00333
|
NM_004484.4(GPC3):c.1285G>A (p.Val429Met)
|
rs11539789
|
0.00333
|
NM_007347.5(AP4E1):c.1177-9T>C
|
rs145851652
|
0.00333
|
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr)
|
rs72648923
|
0.00332
|
NM_147191.1(MMP21):c.1046A>G (p.Glu349Gly)
|
rs28381302
|
0.00331
|
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)
|
rs55857552
|
0.00330
|
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)
|
rs187947581
|
0.00330
|
NM_020987.5(ANK3):c.6955G>A (p.Asp2319Asn)
|
rs140463162
|
0.00330
|
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)
|
rs112387277
|
0.00329
|
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)
|
rs116900568
|
0.00329
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)
|
rs45570339
|
0.00327
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_004817.4(TJP2):c.2992-8C>T
|
rs143965233
|
0.00327
|
NM_153365.3(TAPT1):c.1565A>G (p.Asn522Ser)
|
rs16893137
|
0.00327
|
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=)
|
rs146028766
|
0.00326
|
NM_001365276.2(TNXB):c.3445+8A>G
|
rs201624002
|
0.00326
|
NM_006306.4(SMC1A):c.855-15C>T
|
rs147791932
|
0.00326
|
NM_173689.7(CRB2):c.5C>T (p.Ala2Val)
|
rs201425854
|
0.00326
|
NM_000065.5(C6):c.2067C>T (p.Asp689=)
|
rs28651920
|
0.00325
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
NM_001032221.6(STXBP1):c.247-8A>G
|
rs199827018
|
0.00325
|
NM_001099922.3(ALG13):c.2248-4A>G
|
rs370438099
|
0.00325
|
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=)
|
rs138775857
|
0.00325
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00324
|
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)
|
rs184639841
|
0.00324
|
NM_001261826.3(AP3D1):c.463-4G>A
|
rs192634153
|
0.00324
|
NM_001558.4(IL10RA):c.75G>T (p.Glu25Asp)
|
rs150140303
|
0.00324
|
NM_020401.4(NUP107):c.353G>A (p.Arg118His)
|
rs34347775
|
0.00324
|
NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
|
rs114137271
|
0.00322
|
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met)
|
rs114842875
|
0.00322
|
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)
|
rs55662069
|
0.00322
|
NM_001136191.3(KANK2):c.10G>A (p.Val4Ile)
|
rs139512726
|
0.00321
|
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)
|
rs144679294
|
0.00321
|
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val)
|
rs146120469
|
0.00321
|
NM_001572.5(IRF7):c.610G>A (p.Asp204Asn)
|
rs41313489
|
0.00321
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_001365951.3(KIF1B):c.2115+7031T>C
|
rs149267056
|
0.00320
|
NM_000022.4(ADA):c.95+9A>G
|
rs765216
|
0.00319
|
NM_000574.5(CD55):c.1081+1107C>T
|
rs149088550
|
0.00319
|
NM_000878.5(IL2RB):c.235G>A (p.Val79Met)
|
rs149508414
|
0.00319
|
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu)
|
rs144572703
|
0.00319
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)
|
rs60593994
|
0.00318
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg)
|
rs141381896
|
0.00317
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00316
|
NM_001363.5(DKC1):c.776A>C (p.His259Pro)
|
rs61757608
|
0.00316
|
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser)
|
rs547565552
|
0.00316
|
NM_014339.7(IL17RA):c.20C>T (p.Pro7Leu)
|
rs143652002
|
0.00316
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918
|
0.00316
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_001386298.1(CIC):c.1638C>T (p.Pro546=)
|
rs189529121
|
0.00315
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
NM_001378778.1(MPDZ):c.2032A>T (p.Thr678Ser)
|
rs189005767
|
0.00314
|
NM_001963.6(EGF):c.2433G>A (p.Val811=)
|
rs149396988
|
0.00314
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
NM_000536.4(RAG2):c.22G>A (p.Val8Ile)
|
rs150762709
|
0.00313
|
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)
|
rs76794400
|
0.00313
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_001264.5(CDSN):c.1302C>A (p.Ser434Arg)
|
rs150846158
|
0.00312
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)
|
rs34967349
|
0.00312
|
NM_007078.3(LDB3):c.147G>A (p.Val49=)
|
rs45591834
|
0.00312
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
NM_001032221.6(STXBP1):c.325+8C>T
|
rs117372398
|
0.00310
|
NM_001848.3(COL6A1):c.1182+3G>A
|
rs62215499
|
0.00310
|
NM_020831.6(MRTFA):c.1332G>A (p.Pro444=)
|
rs148478967
|
0.00310
|
NM_019066.5(MAGEL2):c.225G>A (p.Pro75=)
|
rs564216035
|
0.00309
|
NM_033004.4(NLRP1):c.2605G>A (p.Glu869Lys)
|
rs146505967
|
0.00309
|
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp)
|
rs146709251
|
0.00308
|
NM_015937.6(PIGT):c.1061C>T (p.Ala354Val)
|
rs146896700
|
0.00308
|
NM_017553.3(INO80):c.452A>G (p.Asn151Ser)
|
rs145473172
|
0.00308
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=)
|
rs146854507
|
0.00306
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_001031725.6(DDX59):c.946C>A (p.Leu316Ile)
|
rs147684909
|
0.00304
|
NM_001042413.2(GLIS3):c.1545G>C (p.Glu515Asp)
|
rs72687988
|
0.00304
|
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys)
|
rs45524833
|
0.00304
|
NM_005633.4(SOS1):c.2673+14T>C
|
rs183998234
|
0.00304
|
NM_015450.3(POT1):c.903G>T (p.Gln301His)
|
rs116916706
|
0.00304
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_004484.4(GPC3):c.1167-8T>C
|
rs182950534
|
0.00303
|
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)
|
rs150221689
|
0.00303
|
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His)
|
rs146449593
|
0.00303
|
NR_003051.4(RMRP):n.55C>T
|
rs193117694
|
0.00303
|
NM_000789.4(ACE):c.3304C>A (p.Pro1102Thr)
|
rs145349565
|
0.00302
|
NM_138348.6(OTULIN):c.405G>C (p.Leu135=)
|
rs115519180
|
0.00302
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00302
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_001710.6(CFB):c.1778+9G>A
|
rs188688680
|
0.00301
|
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp)
|
rs139332126
|
0.00300
|
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys)
|
rs115012103
|
0.00300
|
NM_001715.3(BLK):c.713G>A (p.Arg238Gln)
|
rs141865425
|
0.00300
|
NM_014043.4(CHMP2B):c.34+8C>T
|
rs35413339
|
0.00300
|
NM_001130823.3(DNMT1):c.891+8C>T
|
rs117294281
|
0.00299
|
NM_003466.4(PAX8):c.1317A>G (p.Ala439=)
|
rs368201100
|
0.00299
|
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=)
|
rs141014640
|
0.00299
|
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met)
|
rs28365117
|
0.00299
|
NM_052989.3(IFT122):c.321A>G (p.Gln107=)
|
rs138793724
|
0.00299
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
NM_001458.5(FLNC):c.1425C>T (p.Asn475=)
|
rs143610360
|
0.00297
|
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala)
|
rs34972246
|
0.00297
|
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser)
|
rs62620041
|
0.00297
|
NM_014714.4(IFT140):c.1542C>A (p.Leu514=)
|
rs141542834
|
0.00297
|
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys)
|
rs143324306
|
0.00297
|
NM_007126.5(VCP):c.1704A>G (p.Gln568=)
|
rs142577424
|
0.00296
|
NM_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
NM_003954.5(MAP3K14):c.114C>T (p.Ser38=)
|
rs143313926
|
0.00295
|
NM_005475.3(SH2B3):c.-28+5G>A
|
rs572454376
|
0.00295
|
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser)
|
rs61978576
|
0.00295
|
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=)
|
rs61733871
|
0.00293
|
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)
|
rs121908601
|
0.00293
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_015102.5(NPHP4):c.3559-19del
|
rs201335783
|
0.00292
|
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)
|
rs61755182
|
0.00291
|
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
0.00291
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_015909.4(NBAS):c.6932G>A (p.Arg2311His)
|
rs148186764
|
0.00291
|
NM_138927.4(SON):c.5754T>C (p.Val1918=)
|
rs150122403
|
0.00291
|
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)
|
rs145217118
|
0.00290
|
NM_001077350.3(NPRL3):c.629+9G>C
|
rs142080016
|
0.00290
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His)
|
rs141230513
|
0.00290
|
NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser)
|
rs140860785
|
0.00290
|
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser)
|
rs143519723
|
0.00290
|
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser)
|
rs41274696
|
0.00290
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_001943.5(DSG2):c.2211C>T (p.Gly737=)
|
rs74578148
|
0.00288
|
NM_007078.3(LDB3):c.2016C>T (p.Cys672=)
|
rs45578640
|
0.00288
|
NM_015991.4(C1QA):c.525C>T (p.Ile175=)
|
rs149050968
|
0.00288
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
NM_000660.7(TGFB1):c.348C>T (p.Thr116=)
|
rs56281462
|
0.00287
|
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)
|
rs149451729
|
0.00287
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_005045.4(RELN):c.906C>T (p.Ala302=)
|
rs114494558
|
0.00287
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
NM_173551.5(ANKS6):c.658G>A (p.Ala220Thr)
|
rs200419394
|
0.00287
|
NM_000503.6(EYA1):c.840C>A (p.Ile280=)
|
rs55972891
|
0.00286
|
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
|
rs28932472
|
0.00286
|
NM_001458.5(FLNC):c.4928-7T>C
|
rs201957008
|
0.00286
|
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)
|
rs142465959
|
0.00286
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met)
|
rs79229040
|
0.00285
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_001014987.2(LAT):c.318T>C (p.Ser106=)
|
rs140327086
|
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_018389.5(SLC35C1):c.522C>T (p.Cys174=)
|
rs141379070
|
0.00284
|
NM_001035.3(RYR2):c.1218G>A (p.Ser406=)
|
rs147389346
|
0.00283
|
NM_001385012.1(NBEA):c.8413G>T (p.Val2805Phe)
|
rs41292207
|
0.00283
|
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=)
|
rs61737781
|
0.00283
|
NM_021813.4(BACH2):c.15G>A (p.Glu5=)
|
rs45447599
|
0.00283
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000271.5(NPC1):c.1071G>A (p.Ser357=)
|
rs61731964
|
0.00282
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
NM_000593.6(TAP1):c.1051-3C>T
|
rs56366814
|
0.00282
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn)
|
rs76508383
|
0.00282
|
NM_145725.3(TRAF3):c.1509C>T (p.Ser503=)
|
rs138943371
|
0.00282
|
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)
|
rs61753111
|
0.00281
|
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)
|
rs112581563
|
0.00281
|
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)
|
rs34203644
|
0.00280
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser)
|
rs112532048
|
0.00279
|
NM_020458.4(TTC7A):c.1095G>T (p.Val365=)
|
rs113844968
|
0.00279
|
NM_001278512.2(AP3B2):c.3009G>A (p.Lys1003=)
|
rs184007787
|
0.00278
|
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=)
|
rs192386572
|
0.00278
|
NM_014994.3(MAPKBP1):c.1156G>A (p.Val386Ile)
|
rs75869993
|
0.00278
|
NM_015202.5(KATNIP):c.1303C>T (p.Leu435=)
|
rs147645225
|
0.00278
|
NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser)
|
rs150848917
|
0.00278
|
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)
|
rs146858930
|
0.00277
|
NM_001558.4(IL10RA):c.136A>G (p.Thr46Ala)
|
rs112317511
|
0.00277
|
NM_015331.3(NCSTN):c.1249A>T (p.Asn417Tyr)
|
rs143039637
|
0.00277
|
NM_173689.7(CRB2):c.1236C>T (p.Ile412=)
|
rs55641439
|
0.00277
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_005263.5(GFI1):c.792C>T (p.Phe264=)
|
rs114487177
|
0.00276
|
NM_032415.7(CARD11):c.1630A>C (p.Ile544Leu)
|
rs147687933
|
0.00276
|
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)
|
rs61737803
|
0.00275
|
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)
|
rs55980825
|
0.00275
|
NM_001365276.2(TNXB):c.12058+15G>A
|
rs762839811
|
0.00275
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
NM_001145252.3(CFP):c.157G>A (p.Val53Met)
|
rs8177068
|
0.00274
|
NM_003764.4(STX11):c.546G>A (p.Glu182=)
|
rs146949718
|
0.00274
|
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)
|
rs151261004
|
0.00274
|
NM_007315.4(STAT1):c.1347+8T>G
|
rs16833147
|
0.00274
|
NM_001370466.1(NOD2):c.1188G>T (p.Val396=)
|
rs77966199
|
0.00273
|
NM_020822.3(KCNT1):c.333G>A (p.Ser111=)
|
rs56008253
|
0.00273
|
NM_000059.4(BRCA2):c.67+82C>G
|
rs189026060
|
0.00272
|
NM_000065.5(C6):c.2518G>A (p.Gly840Ser)
|
rs142836385
|
0.00272
|
NM_000246.4(CIITA):c.2448C>T (p.Ala816=)
|
rs112250421
|
0.00272
|
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)
|
rs150388417
|
0.00272
|
NM_001031725.6(DDX59):c.148G>C (p.Ala50Pro)
|
rs150913822
|
0.00272
|
NM_001031725.6(DDX59):c.251G>C (p.Ser84Thr)
|
rs146060105
|
0.00272
|
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)
|
rs192354176
|
0.00272
|
NM_003480.4(MFAP5):c.6G>A (p.Ser2=)
|
rs4132450
|
0.00272
|
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val)
|
rs61758804
|
0.00272
|
NM_007315.4(STAT1):c.990G>A (p.Gln330=)
|
rs41509946
|
0.00272
|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
NM_000186.4(CFH):c.428-14T>C
|
rs184188486
|
0.00271
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
NM_004184.4(WARS1):c.25C>G (p.Leu9Val)
|
rs143974221
|
0.00271
|
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)
|
rs138198461
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
NM_000278.5(PAX2):c.360C>T (p.Ala120=)
|
rs41291450
|
0.00270
|
NM_001378373.1(MBL2):c.187+5G>A
|
rs192251459
|
0.00270
|
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser)
|
rs149081471
|
0.00270
|
NM_003047.5(SLC9A1):c.1356C>T (p.Ile452=)
|
rs35607809
|
0.00270
|
NM_017864.4(INTS8):c.2766T>C (p.His922=)
|
rs34558403
|
0.00270
|
NM_024426.6(WT1):c.181C>A (p.Arg61=)
|
rs2234581
|
0.00270
|
NM_032119.4(ADGRV1):c.17856+11G>A
|
rs187039736
|
0.00270
|
NM_212482.4(FN1):c.1070G>A (p.Gly357Glu)
|
rs140926439
|
0.00270
|
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)
|
rs113347629
|
0.00269
|
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=)
|
rs61735288
|
0.00269
|
NM_005263.5(GFI1):c.319C>G (p.Pro107Ala)
|
rs149914857
|
0.00269
|
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu)
|
rs114435632
|
0.00269
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)
|
rs148663672
|
0.00269
|
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr)
|
rs143679494
|
0.00269
|
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_001023570.4(IQCB1):c.588T>C (p.Ser196=)
|
rs80015876
|
0.00267
|
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=)
|
rs114046098
|
0.00267
|
NM_001127198.5(TMC6):c.1536-4G>A
|
rs117553598
|
0.00265
|
NM_007074.4(CORO1A):c.1097C>A (p.Pro366His)
|
rs150857828
|
0.00265
|
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=)
|
rs139074002
|
0.00264
|
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu)
|
rs55915440
|
0.00262
|
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=)
|
rs142861804
|
0.00262
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=)
|
rs80133984
|
0.00262
|
NM_003466.4(PAX8):c.1189+15G>A
|
rs149585280
|
0.00262
|
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr)
|
rs35903812
|
0.00262
|
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)
|
rs148468628
|
0.00262
|
NM_198525.3(KIF7):c.2192-13C>T
|
rs201251064
|
0.00262
|
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp)
|
rs148761331
|
0.00261
|
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys)
|
rs202017360
|
0.00261
|
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=)
|
rs61755180
|
0.00261
|
NM_012452.3(TNFRSF13B):c.215G>A (p.Arg72His)
|
rs55916807
|
0.00261
|
NM_030578.4(B9D2):c.195C>T (p.Phe65=)
|
rs34088631
|
0.00261
|
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)
|
rs146630359
|
0.00260
|
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp)
|
rs111673705
|
0.00260
|
NM_000431.4(MVK):c.238G>A (p.Val80Ile)
|
rs76914224
|
0.00259
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)
|
rs138723423
|
0.00259
|
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala)
|
rs111262341
|
0.00259
|
NM_017662.5(TRPM6):c.633T>C (p.Gly211=)
|
rs144221623
|
0.00259
|
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu)
|
rs11558704
|
0.00258
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00258
|
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=)
|
rs56051835
|
0.00258
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)
|
rs147223770
|
0.00258
|
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)
|
rs72648913
|
0.00258
|
NM_198252.3(GSN):c.597C>T (p.Asn199=)
|
rs146329975
|
0.00258
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)
|
rs149566621
|
0.00257
|
NM_004409.5(DMPK):c.161-459C>T
|
rs199935282
|
0.00257
|
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=)
|
rs143226202
|
0.00257
|
NM_001128164.2(ATXN1):c.556A>T (p.Ser186Cys)
|
rs112175378
|
0.00256
|
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)
|
rs117844037
|
0.00256
|
NM_014804.3(KIAA0753):c.1545+10C>T
|
rs147784976
|
0.00255
|
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
|
rs138498780
|
0.00254
|
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
|
rs114015043
|
0.00254
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)
|
rs150392503
|
0.00253
|
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser)
|
rs143877693
|
0.00253
|
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile)
|
rs72650663
|
0.00253
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_001458.5(FLNC):c.4737+15A>G
|
rs182734223
|
0.00252
|
NM_002972.4(SBF1):c.898-18G>A
|
rs369814596
|
0.00252
|
NM_005548.3(KARS1):c.1674C>T (p.Leu558=)
|
rs143267922
|
0.00252
|
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)
|
rs142647321
|
0.00251
|
NM_014915.3(ANKRD26):c.2332G>C (p.Glu778Gln)
|
rs139949439
|
0.00251
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile)
|
rs112095333
|
0.00250
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_015202.5(KATNIP):c.2175T>C (p.Pro725=)
|
rs146330054
|
0.00250
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_024496.4(IRF2BPL):c.636C>T (p.Asn212=)
|
rs145413239
|
0.00250
|
NM_030787.4(CFHR5):c.732C>T (p.Asn244=)
|
rs41306229
|
0.00250
|
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=)
|
rs72836208
|
0.00250
|
NM_003665.4(FCN3):c.750C>T (p.His250=)
|
rs28385652
|
0.00249
|
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)
|
rs143916832
|
0.00249
|
NM_016356.5(DCDC2):c.855A>G (p.Ser285=)
|
rs141519329
|
0.00249
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=)
|
rs35783293
|
0.00248
|
NM_003673.4(TCAP):c.*76G>T
|
rs45506294
|
0.00248
|
NM_005629.4(SLC6A8):c.813C>T (p.Val271=)
|
rs138064933
|
0.00248
|
NM_000505.4(F12):c.418C>G (p.Leu140Val)
|
rs35515200
|
0.00247
|
NM_000718.4(CACNA1B):c.4473+17G>A
|
rs80100052
|
0.00247
|
NM_001098671.2(RASGRP2):c.1466C>G (p.Ser489Cys)
|
rs140514685
|
0.00247
|
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=)
|
rs368002375
|
0.00247
|
NM_001379081.2(FREM1):c.6528C>T (p.Ser2176=)
|
rs144454947
|
0.00247
|
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=)
|
rs199573140
|
0.00247
|
NM_021813.4(BACH2):c.1244G>A (p.Gly415Glu)
|
rs149898769
|
0.00247
|
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=)
|
rs141317474
|
0.00246
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00246
|
NM_003467.3(CXCR4):c.783C>T (p.Ile261=)
|
rs148279552
|
0.00246
|
NM_004260.4(RECQL4):c.1390+3G>A
|
rs148912524
|
0.00246
|
NM_004525.3(LRP2):c.2079C>T (p.Phe693=)
|
rs145709922
|
0.00246
|
NM_015650.4(TRAF3IP1):c.1199A>C (p.Asp400Ala)
|
rs61756349
|
0.00246
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_001365088.1(SLC12A6):c.3042+8A>G
|
rs186141509
|
0.00245
|
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)
|
rs201446579
|
0.00245
|
NM_005908.4(MANBA):c.2136G>A (p.Ser712=)
|
rs149687835
|
0.00245
|
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala)
|
rs61754947
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000875.5(IGF1R):c.2782+17G>A
|
rs186895929
|
0.00244
|
NM_173689.7(CRB2):c.1464G>A (p.Leu488=)
|
rs145392563
|
0.00244
|
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)
|
rs41278047
|
0.00243
|
NM_000211.5(ITGB2):c.147+9C>T
|
rs199948899
|
0.00243
|
NM_000611.6(CD59):c.18G>A (p.Gly6=)
|
rs111771149
|
0.00243
|
NM_001081.4(CUBN):c.1470G>A (p.Pro490=)
|
rs143255616
|
0.00243
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_001711.6(BGN):c.357C>T (p.Leu119=)
|
rs146322407
|
0.00243
|
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)
|
rs138049720
|
0.00243
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)
|
rs144765752
|
0.00242
|
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser)
|
rs143937661
|
0.00242
|
NM_005918.4(MDH2):c.982A>C (p.Lys328Gln)
|
rs144919730
|
0.00242
|
NM_152564.5(VPS13B):c.11392+8G>A
|
rs147921058
|
0.00242
|
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)
|
rs149547196
|
0.00241
|
NM_000137.4(FAH):c.1259G>A (p.Ter420=)
|
rs61747586
|
0.00241
|
NM_001394998.1(TANC2):c.3549C>T (p.Ser1183=)
|
rs138962211
|
0.00241
|
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)
|
rs531879999
|
0.00240
|
NM_014000.3(VCL):c.1907A>G (p.His636Arg)
|
rs71579374
|
0.00240
|
NM_018896.5(CACNA1G):c.1925-10C>T
|
rs139447235
|
0.00240
|
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)
|
rs145896974
|
0.00240
|
NM_001379110.1(SLC9A6):c.1460+4A>G
|
rs180727016
|
0.00239
|
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp)
|
rs34945627
|
0.00239
|
NM_004990.4(MARS1):c.2204+11G>A
|
rs202080192
|
0.00239
|
NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=)
|
rs148092033
|
0.00239
|
NM_021813.4(BACH2):c.2103A>G (p.Glu701=)
|
rs116588681
|
0.00238
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)
|
rs150949575
|
0.00237
|
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)
|
rs139468837
|
0.00237
|
NM_001164508.2(NEB):c.18653G>A (p.Gly6218Asp)
|
rs34471889
|
0.00237
|
NM_001291303.3(FAT4):c.10390A>G (p.Ile3464Val)
|
rs147872710
|
0.00237
|
NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=)
|
rs61746872
|
0.00237
|
NM_002661.5(PLCG2):c.714C>T (p.Ala238=)
|
rs138981519
|
0.00237
|
NM_003664.5(AP3B1):c.1040+9T>A
|
rs201876461
|
0.00237
|
NM_021098.3(CACNA1H):c.6418G>A (p.Ala2140Thr)
|
rs59487037
|
0.00237
|
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu)
|
rs139790539
|
0.00237
|
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)
|
rs551521196
|
0.00237
|
NM_000059.4(BRCA2):c.8953+98T>C
|
rs81002901
|
0.00236
|
NM_000426.4(LAMA2):c.4959+6G>T
|
rs148060790
|
0.00236
|
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)
|
rs201683984
|
0.00236
|
NM_001569.4(IRAK1):c.1104C>T (p.Ala368=)
|
rs11556424
|
0.00236
|
NM_001605.3(AARS1):c.1672-4T>A
|
rs187509039
|
0.00236
|
NM_005186.4(CAPN1):c.1781T>C (p.Val594Ala)
|
rs148743672
|
0.00236
|
NM_014141.6(CNTNAP2):c.681C>T (p.His227=)
|
rs142984073
|
0.00236
|
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp)
|
rs116836001
|
0.00235
|
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=)
|
rs147076626
|
0.00235
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg)
|
rs113491038
|
0.00235
|
NM_001385012.1(NBEA):c.282G>A (p.Thr94=)
|
rs201561325
|
0.00234
|
NM_005535.3(IL12RB1):c.1098G>A (p.Thr366=)
|
rs61734350
|
0.00234
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala)
|
rs146976883
|
0.00233
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
NM_001308093.3(GATA4):c.462C>T (p.Phe154=)
|
rs56348550
|
0.00232
|
NM_002471.4(MYH6):c.1275C>T (p.Ile425=)
|
rs61742470
|
0.00232
|
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=)
|
rs375950478
|
0.00232
|
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile)
|
rs143213152
|
0.00232
|
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)
|
rs61749163
|
0.00231
|
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=)
|
rs10112748
|
0.00231
|
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu)
|
rs56200894
|
0.00231
|
NM_020774.4(MIB1):c.843A>T (p.Thr281=)
|
rs137957940
|
0.00231
|
NM_001303256.3(MORC2):c.63A>G (p.Thr21=)
|
rs73156742
|
0.00230
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_003265.3(TLR3):c.634-10C>A
|
rs113654222
|
0.00229
|
NM_004260.4(RECQL4):c.2463+6C>T
|
rs35029361
|
0.00229
|
NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg)
|
rs146764905
|
0.00229
|
NM_020247.5(COQ8A):c.948C>T (p.Leu316=)
|
rs55637780
|
0.00229
|
NM_000092.5(COL4A4):c.4217-15T>C
|
rs200926310
|
0.00228
|
NM_000285.4(PEPD):c.1098C>T (p.His366=)
|
rs149579451
|
0.00228
|
NM_001366385.1(CARD14):c.1065C>T (p.Cys355=)
|
rs140246774
|
0.00228
|
NM_006118.4(HAX1):c.207A>T (p.Pro69=)
|
rs142150013
|
0.00228
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037
|
0.00228
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_000448.3(RAG1):c.2571C>T (p.Ala857=)
|
rs141560248
|
0.00227
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile)
|
rs74317375
|
0.00227
|
NM_001379081.2(FREM1):c.2796C>T (p.Arg932=)
|
rs138176565
|
0.00227
|
NM_014339.7(IL17RA):c.1530C>T (p.Asp510=)
|
rs148319877
|
0.00227
|
NM_000395.3(CSF2RB):c.2526G>A (p.Pro842=)
|
rs75527703
|
0.00226
|
NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn)
|
rs78086631
|
0.00226
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
NM_004946.3(DOCK2):c.90G>C (p.Gln30His)
|
rs141894939
|
0.00226
|
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=)
|
rs111227648
|
0.00226
|
NM_001374736.1(DST):c.2256A>T (p.Ser752=)
|
rs113432929
|
0.00225
|
NM_003151.4(STAT4):c.1476T>C (p.Ser492=)
|
rs138191914
|
0.00225
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=)
|
rs61747606
|
0.00224
|
NM_000379.4(XDH):c.2634T>C (p.Ile878=)
|
rs146994573
|
0.00224
|
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp)
|
rs145529594
|
0.00224
|
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=)
|
rs35860563
|
0.00224
|
NM_025193.4(HSD3B7):c.357C>T (p.Thr119=)
|
rs117645456
|
0.00224
|
NM_032564.5(DGAT2):c.890G>A (p.Arg297Gln)
|
rs140793537
|
0.00224
|
NM_148919.4(PSMB8):c.501C>T (p.Leu167=)
|
rs11540143
|
0.00224
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
NM_004990.4(MARS1):c.280-14C>T
|
rs183195960
|
0.00223
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_152703.5(SAMD9L):c.1503A>G (p.Arg501=)
|
rs75446743
|
0.00223
|
NM_000091.5(COL4A3):c.987+20C>G
|
rs141425127
|
0.00222
|
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr)
|
rs139515054
|
0.00222
|
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
|
rs139971481
|
0.00222
|
NM_004984.4(KIF5A):c.1293+9G>A
|
rs201749114
|
0.00222
|
NM_007046.4(EMILIN1):c.2576-8C>A
|
rs150596062
|
0.00222
|
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly)
|
rs150649460
|
0.00222
|
NM_001270508.2(TNFAIP3):c.2175G>A (p.Leu725=)
|
rs140354477
|
0.00221
|
NM_017553.3(INO80):c.57C>T (p.Pro19=)
|
rs144276063
|
0.00221
|
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=)
|
rs145573166
|
0.00221
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)
|
rs113870881
|
0.00220
|
NM_003661.4(APOL1):c.573C>T (p.Leu191=)
|
rs150846072
|
0.00220
|
NM_019842.4(KCNQ5):c.972A>G (p.Gly324=)
|
rs138701359
|
0.00220
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
NM_153460.4(IL17RC):c.161T>C (p.Val54Ala)
|
rs138985119
|
0.00220
|
NM_000186.4(CFH):c.3207T>C (p.Ser1069=)
|
rs62641697
|
0.00219
|
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)
|
rs41281120
|
0.00219
|
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)
|
rs76337075
|
0.00219
|
NM_032608.7(MYO18B):c.2377-4G>A
|
rs200030443
|
0.00219
|
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)
|
rs181347577
|
0.00218
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=)
|
rs61744333
|
0.00217
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
NM_001136219.3(FCGR2A):c.210C>T (p.Ser70=)
|
rs148868087
|
0.00217
|
NM_004463.3(FGD1):c.2268C>T (p.Cys756=)
|
rs61734178
|
0.00217
|
NM_007289.4(MME):c.855+6A>T
|
rs41267907
|
0.00217
|
NM_019109.5(ALG1):c.1222C>T (p.Leu408=)
|
rs149319732
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_001127255.2(NLRP7):c.574A>C (p.Met192Leu)
|
rs104895529
|
0.00216
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_000522.5(HOXA13):c.1002A>G (p.Leu334=)
|
rs35608915
|
0.00215
|
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=)
|
rs34785693
|
0.00215
|
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)
|
rs200513156
|
0.00215
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_002029.4(FPR1):c.26C>T (p.Thr9Met)
|
rs148095693
|
0.00215
|
NM_006070.6(TFG):c.415+16A>G
|
rs201290760
|
0.00215
|
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)
|
rs2066520
|
0.00215
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val)
|
rs190209925
|
0.00214
|
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746
|
0.00214
|
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=)
|
rs145351926
|
0.00213
|
NM_000466.3(PEX1):c.473-3C>T
|
rs150576000
|
0.00213
|
NM_001377265.1(MAPT):c.2091+29G>A
|
rs63751443
|
0.00213
|
NM_006393.3(NEBL):c.109T>C (p.Leu37=)
|
rs140734883
|
0.00213
|
NM_000334.4(SCN4A):c.1100+7G>A
|
rs200770684
|
0.00212
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
NM_020433.5(JPH2):c.1794C>A (p.Ser598=)
|
rs369883442
|
0.00212
|
NM_020708.5(SLC12A5):c.96C>T (p.Thr32=)
|
rs143969641
|
0.00212
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
0.00211
|
NM_013236.4(ATXN10):c.1053C>T (p.Phe351=)
|
rs41279801
|
0.00211
|
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn)
|
rs72650671
|
0.00211
|
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr)
|
rs72647897
|
0.00211
|
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=)
|
rs150723240
|
0.00210
|
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)
|
rs150844616
|
0.00210
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
NM_006949.4(STXBP2):c.1538+10C>T
|
rs139200597
|
0.00210
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
NM_013322.3(SNX10):c.25-5T>C
|
rs184384013
|
0.00209
|
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=)
|
rs150303433
|
0.00209
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_000431.4(MVK):c.381G>A (p.Pro127=)
|
rs140397628
|
0.00208
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)
|
rs140926982
|
0.00208
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)
|
rs182491843
|
0.00208
|
NM_002471.4(MYH6):c.3979-7dup
|
rs545343612
|
0.00208
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
NM_014314.4(RIGI):c.1059C>T (p.Asn353=)
|
rs45471397
|
0.00207
|
NM_198253.3(TERT):c.3105C>T (p.Val1035=)
|
rs181612536
|
0.00207
|
NM_000383.4(AIRE):c.1566+8C>T
|
rs72650680
|
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_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)
|
rs7271776
|
0.00206
|
NM_000346.4(SOX9):c.685+8G>A
|
rs117696751
|
0.00205
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_001202.6(BMP4):c.76T>C (p.Leu26=)
|
rs74486266
|
0.00205
|
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)
|
rs11900987
|
0.00205
|
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=)
|
rs146489206
|
0.00205
|
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995
|
0.00205
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile)
|
rs150242281
|
0.00204
|
NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val)
|
rs148677577
|
0.00204
|
NM_006612.6(KIF1C):c.3071G>A (p.Arg1024Gln)
|
rs141225452
|
0.00204
|
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)
|
rs72648245
|
0.00203
|
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=)
|
rs202045203
|
0.00203
|
NM_016373.4(WWOX):c.1197G>A (p.Ala399=)
|
rs376935572
|
0.00203
|
NM_138927.4(SON):c.3326C>T (p.Ala1109Val)
|
rs144188863
|
0.00203
|
NM_003647.3(DGKE):c.129G>A (p.Gln43=)
|
rs139071284
|
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_000211.5(ITGB2):c.162G>A (p.Pro54=)
|
rs138303556
|
0.00201
|
NM_002163.4(IRF8):c.724T>C (p.Tyr242His)
|
rs142267779
|
0.00201
|
NM_002204.4(ITGA3):c.1420G>A (p.Val474Met)
|
rs61730081
|
0.00201
|
NM_007074.4(CORO1A):c.738G>A (p.Gln246=)
|
rs143729497
|
0.00201
|
NM_014956.5(CEP164):c.2772C>G (p.Leu924=)
|
rs117473319
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
NM_003611.3(OFD1):c.517+20T>C
|
rs139112266
|
0.00200
|
NM_017864.4(INTS8):c.873A>G (p.Leu291=)
|
rs77629237
|
0.00200
|
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met)
|
rs145937537
|
0.00200
|
NM_000117.3(EMD):c.399+18C>T
|
rs182540760
|
0.00199
|
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=)
|
rs75158917
|
0.00199
|
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr)
|
rs148572278
|
0.00199
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
NM_182914.3(SYNE2):c.18039-5T>A
|
rs189611387
|
0.00199
|
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967
|
0.00198
|
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser)
|
rs148109368
|
0.00198
|
NM_004958.4(MTOR):c.663C>G (p.Thr221=)
|
rs112439072
|
0.00198
|
NM_012448.4(STAT5B):c.375+17G>A
|
rs148509105
|
0.00198
|
NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu)
|
rs370765948
|
0.00197
|
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)
|
rs138762270
|
0.00197
|
NM_001963.6(EGF):c.1602G>A (p.Lys534=)
|
rs140682556
|
0.00197
|
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
NM_024426.6(WT1):c.309C>A (p.Gly103=)
|
rs547333427
|
0.00197
|
NM_001127255.2(NLRP7):c.2094C>T (p.His698=)
|
rs104895524
|
0.00196
|
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)
|
rs140026883
|
0.00196
|
NM_203447.4(DOCK8):c.380G>A (p.Arg127His)
|
rs150742426
|
0.00196
|
NM_203447.4(DOCK8):c.4024-4C>T
|
rs111306749
|
0.00196
|
NM_000051.4(ATM):c.8269-14A>T
|
rs114320959
|
0.00195
|
NM_000379.4(XDH):c.882C>T (p.Pro294=)
|
rs138246330
|
0.00195
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
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_004525.3(LRP2):c.12380G>A (p.Arg4127His)
|
rs142934522
|
0.00195
|
NM_005529.7(HSPG2):c.4627-3del
|
rs368983547
|
0.00195
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)
|
rs142381345
|
0.00194
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_207361.6(FREM2):c.84C>G (p.Pro28=)
|
rs141718695
|
0.00194
|
NM_000760.4(CSF3R):c.108C>T (p.Val36=)
|
rs3918011
|
0.00193
|
NM_001012339.3(DNAJC21):c.316-8T>G
|
rs182094106
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_015937.6(PIGT):c.675T>C (p.Val225=)
|
rs147475258
|
0.00193
|
NM_019888.3(MC3R):c.658C>A (p.Arg220Ser)
|
rs61735259
|
0.00193
|
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)
|
rs149978500
|
0.00193
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_015158.5(KANK1):c.3609G>A (p.Ala1203=)
|
rs114625699
|
0.00192
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
NM_000392.5(ABCC2):c.159A>G (p.Lys53=)
|
rs17222596
|
0.00191
|
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)
|
rs113380721
|
0.00191
|
NM_005670.4(EPM2A):c.719-4G>A
|
rs145030227
|
0.00191
|
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=)
|
rs149278319
|
0.00191
|
NM_000204.5(CFI):c.1443C>T (p.Val481=)
|
rs114091883
|
0.00190
|
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014
|
0.00190
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg)
|
rs61751972
|
0.00190
|
NM_022786.3(ARV1):c.64A>T (p.Thr22Ser)
|
rs143532693
|
0.00190
|
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)
|
rs62001015
|
0.00189
|
NM_001110792.2(MECP2):c.618C>T (p.Ser206=)
|
rs61749711
|
0.00189
|
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)
|
rs149668487
|
0.00189
|
NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro)
|
rs142253225
|
0.00189
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)
|
rs140899003
|
0.00189
|
NM_152617.4(RNF168):c.1278C>T (p.Thr426=)
|
rs115264746
|
0.00189
|
NM_000383.4(AIRE):c.1065C>T (p.Pro355=)
|
rs201551372
|
0.00188
|
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)
|
rs150378053
|
0.00188
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_002972.4(SBF1):c.2079C>T (p.His693=)
|
rs199672732
|
0.00188
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00188
|
NM_024426.6(WT1):c.123G>C (p.Pro41=)
|
rs555140661
|
0.00188
|
NM_080424.4(SP110):c.584-10C>G
|
rs148591984
|
0.00188
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_182746.3(MCM4):c.961C>T (p.Arg321Cys)
|
rs142732823
|
0.00188
|
NM_000722.4(CACNA2D1):c.2837-7A>G
|
rs112176710
|
0.00187
|
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)
|
rs201214794
|
0.00187
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
NM_000572.3(IL10):c.43G>A (p.Gly15Arg)
|
rs145922845
|
0.00186
|
NM_001382347.1(MYO5A):c.5234+12C>T
|
rs113067572
|
0.00185
|
NM_001556.3(IKBKB):c.1702A>C (p.Arg568=)
|
rs151057347
|
0.00185
|
NM_001963.6(EGF):c.1723G>A (p.Gly575Arg)
|
rs115396821
|
0.00185
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
NM_005060.4(RORC):c.990C>T (p.Tyr330=)
|
rs61754474
|
0.00185
|
NM_006929.5(SKIC2):c.1705G>A (p.Val569Met)
|
rs144147284
|
0.00185
|
NM_014339.7(IL17RA):c.1689C>T (p.Gly563=)
|
rs146292661
|
0.00185
|
NM_153834.4(ADGRG4):c.4639T>A (p.Cys1547Ser)
|
rs143353057
|
0.00185
|
NM_000091.5(COL4A3):c.3566-9T>C
|
rs147886850
|
0.00184
|
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp)
|
rs139071351
|
0.00184
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)
|
rs193056942
|
0.00184
|
NM_003611.3(OFD1):c.1654+8A>G
|
rs200767363
|
0.00184
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
0.00183
|
NM_000350.3(ABCA4):c.2588-12C>G
|
rs61751396
|
0.00183
|
NM_000587.4(C7):c.1341G>A (p.Glu447=)
|
rs150696042
|
0.00183
|
NM_005918.4(MDH2):c.480G>A (p.Val160=)
|
rs139959689
|
0.00183
|
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)
|
rs115003742
|
0.00183
|
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)
|
rs142611198
|
0.00183
|
NM_016599.5(MYOZ2):c.76+20G>A
|
rs113920336
|
0.00183
|
NM_020655.4(JPH3):c.406G>A (p.Gly136Ser)
|
rs149647215
|
0.00183
|
NM_030930.4(UNC93B1):c.239-6C>T
|
rs182093266
|
0.00183
|
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=)
|
rs368850131
|
0.00183
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile)
|
rs147788838
|
0.00182
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_001145252.3(CFP):c.895G>A (p.Asp299Asn)
|
rs61737993
|
0.00182
|
NM_001378969.1(KCND3):c.627G>C (p.Thr209=)
|
rs149299911
|
0.00182
|
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=)
|
rs11574420
|
0.00182
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val)
|
rs143704418
|
0.00182
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_001366385.1(CARD14):c.2569+4T>C
|
rs146678380
|
0.00181
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
NM_000170.3(GLDC):c.1927-9A>G
|
rs41281773
|
0.00180
|
NM_001130438.3(SPTAN1):c.3720-5T>G
|
rs200543425
|
0.00180
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)
|
rs147319762
|
0.00180
|
NM_020738.4(KIDINS220):c.3586-7T>C
|
rs139887022
|
0.00180
|
NM_020812.4(DOCK6):c.3517C>T (p.Arg1173Trp)
|
rs145081732
|
0.00180
|
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=)
|
rs111888319
|
0.00180
|
NM_001395656.1(ROBO2):c.1956T>C (p.Thr652=)
|
rs61731263
|
0.00179
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_006231.4(POLE):c.2561+6T>C
|
rs116231808
|
0.00179
|
NM_182643.3(DLC1):c.3856-6G>A
|
rs200102232
|
0.00179
|
NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg)
|
rs140563851
|
0.00178
|
NM_001379286.1(ZNF423):c.312C>T (p.Asp104=)
|
rs117266679
|
0.00178
|
NM_013266.4(CTNNA3):c.1195C>A (p.Leu399Ile)
|
rs115276158
|
0.00178
|
NM_013266.4(CTNNA3):c.429T>C (p.Asp143=)
|
rs111880127
|
0.00178
|
NM_015713.5(RRM2B):c.48+265C>G
|
rs550765773
|
0.00178
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_033004.4(NLRP1):c.3784-4G>A
|
rs146498193
|
0.00178
|
NM_130849.4(SLC39A4):c.504G>A (p.Glu168=)
|
rs138825974
|
0.00178
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
NM_198253.3(TERT):c.2517G>A (p.Thr839=)
|
rs140124989
|
0.00178
|
NM_001267550.2(TTN):c.29963-13A>G
|
rs72650008
|
0.00177
|
NM_014425.5(INVS):c.3017-5T>G
|
rs201018893
|
0.00177
|
NM_020458.4(TTC7A):c.2211G>A (p.Ala737=)
|
rs142959785
|
0.00177
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_000383.4(AIRE):c.63C>T (p.Ala21=)
|
rs371796437
|
0.00176
|
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile)
|
rs150461578
|
0.00176
|
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)
|
rs138825640
|
0.00175
|
NM_000301.5(PLG):c.1878-6T>C
|
rs192519670
|
0.00175
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_000443.4(ABCB4):c.1893+6T>C
|
rs8187798
|
0.00175
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=)
|
rs200979954
|
0.00175
|
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)
|
rs186881889
|
0.00175
|
NM_001710.6(CFB):c.1143C>T (p.Arg381=)
|
rs150920440
|
0.00175
|
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)
|
rs28359542
|
0.00175
|
NM_004281.4(BAG3):c.25A>G (p.Met9Val)
|
rs137965903
|
0.00175
|
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp)
|
rs201302313
|
0.00175
|
NM_004944.4(DNASE1L3):c.543G>A (p.Ala181=)
|
rs61730077
|
0.00175
|
NM_021245.4(MYOZ1):c.253-20T>C
|
rs188206000
|
0.00175
|
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys)
|
rs145656924
|
0.00175
|
NM_152468.5(TMC8):c.1571C>T (p.Pro524Leu)
|
rs144120533
|
0.00175
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
NM_001715.3(BLK):c.711C>T (p.Pro237=)
|
rs143699141
|
0.00174
|
NM_147686.4(TRAF3IP2):c.1184A>G (p.Asn395Ser)
|
rs139767840
|
0.00174
|
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=)
|
rs45562437
|
0.00174
|
NM_001037.5(SCN1B):c.448+321G>A
|
rs72558028
|
0.00173
|
NM_001943.5(DSG2):c.1652-12C>T
|
rs140850369
|
0.00173
|
NM_020754.4(ARHGAP31):c.349-7T>G
|
rs200397968
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_001377.3(DYNC2H1):c.6478-17C>T
|
rs61899765
|
0.00172
|
NM_002471.4(MYH6):c.2928+5G>A
|
rs28730772
|
0.00172
|
NM_014639.4(SKIC3):c.1848A>G (p.Thr616=)
|
rs145518834
|
0.00172
|
NM_000044.6(AR):c.636G>A (p.Arg212=)
|
rs150226204
|
0.00171
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=)
|
rs375589233
|
0.00171
|
NM_001006658.3(CR2):c.2352T>C (p.Ile784=)
|
rs142319454
|
0.00170
|
NM_001378183.1(PIEZO2):c.6013G>A (p.Asp2005Asn)
|
rs199842060
|
0.00170
|
NM_004738.5(VAPB):c.510G>A (p.Met170Ile)
|
rs143144050
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_148960.3(CLDN19):c.626+75C>G
|
rs199656937
|
0.00170
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=)
|
rs367775215
|
0.00169
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_005419.4(STAT2):c.759C>T (p.His253=)
|
rs147605088
|
0.00169
|
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_000026.4(ADSL):c.1010+18A>G
|
rs201019280
|
0.00168
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=)
|
rs200863167
|
0.00168
|
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)
|
rs61751570
|
0.00168
|
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=)
|
rs142860816
|
0.00168
|
NM_153460.4(IL17RC):c.1768A>G (p.Ser590Gly)
|
rs141404925
|
0.00168
|
NM_000836.4(GRIN2D):c.2271C>T (p.Ile757=)
|
rs144676582
|
0.00167
|
NM_001242896.3(DEPDC5):c.814G>A (p.Val272Ile)
|
rs187334123
|
0.00167
|
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=)
|
rs148005445
|
0.00167
|
NM_002292.4(LAMB2):c.510C>T (p.Arg170=)
|
rs149856537
|
0.00167
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
NM_000384.3(APOB):c.9105T>C (p.Asn3035=)
|
rs147510760
|
0.00166
|
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=)
|
rs145662546
|
0.00166
|
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro)
|
rs142841538
|
0.00166
|
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)
|
rs146263125
|
0.00166
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_005419.4(STAT2):c.285+5T>C
|
rs79264292
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)
|
rs61757261
|
0.00165
|
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
|
rs200133722
|
0.00165
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg)
|
rs76897604
|
0.00164
|
NM_002661.5(PLCG2):c.987G>A (p.Thr329=)
|
rs200506549
|
0.00164
|
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=)
|
rs141227274
|
0.00164
|
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)
|
rs8192671
|
0.00164
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_001037.5(SCN1B):c.448+29C>T
|
rs186759145
|
0.00163
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_001144967.3(NEDD4L):c.2613C>T (p.Asn871=)
|
rs141136641
|
0.00163
|
NM_001349253.2(SCN11A):c.2213C>T (p.Pro738Leu)
|
rs140995438
|
0.00163
|
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)
|
rs141215990
|
0.00163
|
NM_001482.3(GATM):c.669T>C (p.Tyr223=)
|
rs151231277
|
0.00163
|
NM_006397.3(RNASEH2A):c.339G>T (p.Leu113=)
|
rs145176499
|
0.00163
|
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=)
|
rs113792127
|
0.00163
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=)
|
rs137925121
|
0.00162
|
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=)
|
rs148329158
|
0.00162
|
NM_005448.2(BMP15):c.581T>C (p.Phe194Ser)
|
rs141218518
|
0.00162
|
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala)
|
rs35489395
|
0.00162
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
NM_004946.3(DOCK2):c.4201G>T (p.Ala1401Ser)
|
rs143100569
|
0.00161
|
NM_006509.4(RELB):c.1563C>T (p.Ala521=)
|
rs199742203
|
0.00161
|
NM_000718.4(CACNA1B):c.6095C>G (p.Thr2032Ser)
|
rs201940970
|
0.00160
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_003200.5(TCF3):c.315G>A (p.Arg105=)
|
rs144176765
|
0.00160
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
0.00160
|
NM_006904.7(PRKDC):c.3315G>T (p.Val1105=)
|
rs56047668
|
0.00160
|
NM_018979.4(WNK1):c.1074C>T (p.Thr358=)
|
rs72648621
|
0.00160
|
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=)
|
rs150663813
|
0.00159
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)
|
rs200250181
|
0.00159
|
NM_152743.4(BRAT1):c.2208G>T (p.Leu736=)
|
rs61753093
|
0.00159
|
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe)
|
rs35578485
|
0.00159
|
NM_000383.4(AIRE):c.1567-5C>T
|
rs192215705
|
0.00158
|
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=)
|
rs151335623
|
0.00158
|
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)
|
rs141190850
|
0.00158
|
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln)
|
rs145070485
|
0.00158
|
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln)
|
rs151076155
|
0.00158
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
NM_001001548.3(CD36):c.1150del (p.Ala384fs)
|
rs551607784
|
0.00157
|
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)
|
rs151331381
|
0.00157
|
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu)
|
rs201092215
|
0.00157
|
NM_000238.4(KCNH2):c.1129-18C>T
|
rs78794789
|
0.00156
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=)
|
rs367592989
|
0.00156
|
NM_001110556.2(FLNA):c.1429+8C>T
|
rs202181557
|
0.00156
|
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys)
|
rs200929552
|
0.00156
|
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)
|
rs146597836
|
0.00156
|
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg)
|
rs140588099
|
0.00156
|
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile)
|
rs150672767
|
0.00156
|
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)
|
rs202196322
|
0.00156
|
NM_017864.4(INTS8):c.2031A>G (p.Thr677=)
|
rs138818665
|
0.00156
|
NM_022098.4(XPNPEP3):c.590-8A>G
|
rs143719656
|
0.00156
|
NM_053025.4(MYLK):c.4289-4C>G
|
rs376670657
|
0.00156
|
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=)
|
rs61759916
|
0.00155
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=)
|
rs201941844
|
0.00155
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_016341.4(PLCE1):c.2076A>T (p.Thr692=)
|
rs147203844
|
0.00155
|
NM_017654.4(SAMD9):c.4102G>A (p.Glu1368Lys)
|
rs138600971
|
0.00155
|
NM_130849.4(SLC39A4):c.595T>C (p.Leu199=)
|
rs141199511
|
0.00155
|
NM_172245.4(CSF2RA):c.279A>G (p.Thr93=)
|
rs140581875
|
0.00155
|
NM_177965.4(CFAP418):c.528A>G (p.Thr176=)
|
rs143748636
|
0.00155
|
NM_001003787.4(STRADA):c.135G>A (p.Ala45=)
|
rs56163554
|
0.00154
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
NM_003200.5(TCF3):c.750G>A (p.Pro250=)
|
rs201703361
|
0.00154
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
NM_032588.4(TRIM63):c.375C>T (p.His125=)
|
rs144196126
|
0.00154
|
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)
|
rs118187988
|
0.00154
|
NM_000204.5(CFI):c.782G>A (p.Gly261Asp)
|
rs112534524
|
0.00153
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
NM_001035.3(RYR2):c.4596+12G>A
|
rs148557427
|
0.00153
|
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)
|
rs182505786
|
0.00153
|
NM_001130823.3(DNMT1):c.2117+13G>A
|
rs112660071
|
0.00153
|
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn)
|
rs80120302
|
0.00153
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_003665.4(FCN3):c.232+1G>A
|
rs141300199
|
0.00153
|
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=)
|
rs139493914
|
0.00153
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser)
|
rs143885622
|
0.00152
|
NM_000618.5(IGF1):c.207G>A (p.Arg69=)
|
rs147960415
|
0.00152
|
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)
|
rs121912280
|
0.00152
|
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=)
|
rs145304925
|
0.00152
|
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala)
|
rs151271595
|
0.00152
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127
|
0.00152
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)
|
rs199805060
|
0.00151
|
NM_001458.5(FLNC):c.2389+12C>T
|
rs370526829
|
0.00151
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)
|
rs144593342
|
0.00150
|
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)
|
rs148337824
|
0.00150
|
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=)
|
rs147066476
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
NM_201384.3(PLEC):c.3543C>T (p.Val1181=)
|
rs202185399
|
0.00150
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_001386125.1(OBSCN):c.23303C>A (p.Pro7768His)
|
rs201092597
|
0.00149
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00149
|
NM_031892.3(SH3KBP1):c.162+36464C>G
|
rs138422588
|
0.00149
|
NM_152424.4(AMER1):c.401A>C (p.His134Pro)
|
rs146489129
|
0.00149
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00148
|
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn)
|
rs151264959
|
0.00148
|
NM_001358263.1(HK1):c.75+16T>C
|
rs372162023
|
0.00148
|
NM_153033.5(KCTD7):c.384G>A (p.Glu128=)
|
rs145238250
|
0.00148
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_000301.5(PLG):c.1962G>T (p.Val654=)
|
rs4252196
|
0.00147
|
NM_000606.3(C8G):c.586G>A (p.Val196Ile)
|
rs150744928
|
0.00147
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
NM_003665.4(FCN3):c.266-7T>C
|
rs28385723
|
0.00147
|
NM_004706.4(ARHGEF1):c.2506C>G (p.Gln836Glu)
|
rs45580632
|
0.00147
|
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)
|
rs147919567
|
0.00147
|
NM_213720.3(CHCHD10):c.41+7G>A
|
rs141526972
|
0.00147
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg)
|
rs75007073
|
0.00146
|
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr)
|
rs148684857
|
0.00146
|
NM_002693.3(POLG):c.1890C>T (p.Asn630=)
|
rs148658588
|
0.00146
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00146
|
NM_032119.4(ADGRV1):c.11378-20G>A
|
rs190125624
|
0.00146
|
NM_152296.5(ATP1A3):c.1943+12A>T
|
rs201197776
|
0.00146
|
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)
|
rs200037070
|
0.00145
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
NM_001267550.2(TTN):c.10104T>G (p.Val3368=)
|
rs142460433
|
0.00145
|
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=)
|
rs200248561
|
0.00145
|
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=)
|
rs146635122
|
0.00145
|
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=)
|
rs115742584
|
0.00145
|
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)
|
rs115049252
|
0.00145
|
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu)
|
rs144417514
|
0.00145
|
NM_022436.3(ABCG5):c.696C>T (p.Val232=)
|
rs72796720
|
0.00145
|
NM_024496.4(IRF2BPL):c.2203A>T (p.Ser735Cys)
|
rs141239534
|
0.00145
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=)
|
rs533569454
|
0.00144
|
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=)
|
rs114292675
|
0.00144
|
NM_003737.4(DCHS1):c.2975G>A (p.Gly992Glu)
|
rs145749053
|
0.00144
|
NM_198253.3(TERT):c.1574-16G>C
|
rs79698601
|
0.00144
|
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)
|
rs186541002
|
0.00143
|
NM_001848.3(COL6A1):c.105C>G (p.Pro35=)
|
rs145579577
|
0.00143
|
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)
|
rs147485641
|
0.00143
|
NM_031483.7(ITCH):c.2271C>T (p.Ile757=)
|
rs56366303
|
0.00143
|
NM_032634.4(PIGO):c.2166G>C (p.Ala722=)
|
rs147101825
|
0.00143
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
NM_000064.4(C3):c.2901C>T (p.Leu967=)
|
rs34029609
|
0.00142
|
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln)
|
rs150834672
|
0.00142
|
NM_005585.5(SMAD6):c.79A>G (p.Ser27Gly)
|
rs374058045
|
0.00142
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=)
|
rs149893977
|
0.00142
|
NM_032802.4(SPPL2A):c.1554C>G (p.Val518=)
|
rs146593203
|
0.00142
|
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val)
|
rs142663818
|
0.00142
|
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile)
|
rs77072552
|
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_001385012.1(NBEA):c.7746G>A (p.Pro2582=)
|
rs146396146
|
0.00141
|
NM_001711.6(BGN):c.111C>T (p.Asn37=)
|
rs145819764
|
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_007118.4(TRIO):c.34G>A (p.Ala12Thr)
|
rs1045136451
|
0.00141
|
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=)
|
rs141095352
|
0.00141
|
NM_015967.8(PTPN22):c.197-4A>G
|
rs72650669
|
0.00141
|
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)
|
rs150516342
|
0.00141
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_144596.4(TTC8):c.1077C>T (p.Asn359=)
|
rs150896551
|
0.00141
|
NM_173689.7(CRB2):c.3204C>T (p.Asp1068=)
|
rs377347664
|
0.00141
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
NM_000540.3(RYR1):c.2919C>T (p.His973=)
|
rs139363830
|
0.00140
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_001291303.3(FAT4):c.10107A>G (p.Glu3369=)
|
rs147646369
|
0.00140
|
NM_001723.7(DST):c.7135G>A (p.Ala2379Thr)
|
rs140192373
|
0.00140
|
NM_004958.4(MTOR):c.1830C>T (p.Phe610=)
|
rs139687094
|
0.00140
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)
|
rs200510462
|
0.00140
|
NM_020822.3(KCNT1):c.435-17G>A
|
rs140115987
|
0.00140
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)
|
rs149898088
|
0.00140
|
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=)
|
rs34175949
|
0.00140
|
NM_000536.4(RAG2):c.1095T>C (p.Ser365=)
|
rs140519815
|
0.00139
|
NM_005223.4(DNASE1):c.567C>T (p.Gly189=)
|
rs8175352
|
0.00139
|
NM_012079.6(DGAT1):c.1407C>T (p.Val469=)
|
rs17851331
|
0.00139
|
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)
|
rs56006128
|
0.00138
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val)
|
rs139397227
|
0.00138
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile)
|
rs75099211
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000379.4(XDH):c.1868C>T (p.Thr623Ile)
|
rs45448694
|
0.00137
|
NM_001013838.3(CARMIL2):c.2286C>T (p.Ala762=)
|
rs201745158
|
0.00137
|
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=)
|
rs145322467
|
0.00137
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=)
|
rs13082063
|
0.00137
|
NM_005188.4(CBL):c.2190G>C (p.Thr730=)
|
rs143840974
|
0.00137
|
NM_153460.4(IL17RC):c.823-4C>T
|
rs200220568
|
0.00137
|
NM_000501.4(ELN):c.1358-253G>A
|
rs370619098
|
0.00136
|
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)
|
rs75133741
|
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_020458.4(TTC7A):c.1348G>A (p.Val450Met)
|
rs114276698
|
0.00136
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
|
0.00135
|
NM_000760.4(CSF3R):c.1410G>A (p.Ala470=)
|
rs3917988
|
0.00135
|
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)
|
rs142507451
|
0.00135
|
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)
|
rs138153075
|
0.00135
|
NM_001111.5(ADAR):c.1926T>C (p.His642=)
|
rs150171059
|
0.00135
|
NM_001111.5(ADAR):c.2668+6T>C
|
rs190881240
|
0.00135
|
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378
|
0.00135
|
NM_007315.4(STAT1):c.1222-5T>C
|
rs191364028
|
0.00135
|
NM_014639.4(SKIC3):c.1392C>T (p.Tyr464=)
|
rs142058280
|
0.00135
|
NM_022041.4(GAN):c.1612+12A>G
|
rs150344737
|
0.00135
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
NM_138927.4(SON):c.1664C>T (p.Thr555Met)
|
rs13049658
|
0.00135
|
NM_152564.5(VPS13B):c.2651-15A>C
|
rs370251406
|
0.00135
|
NM_000176.3(NR3C1):c.685G>A (p.Ala229Thr)
|
rs72542742
|
0.00134
|
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)
|
rs201148948
|
0.00134
|
NM_001014987.2(LAT):c.341-38G>A
|
rs145698858
|
0.00134
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00134
|
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)
|
rs34279942
|
0.00134
|
NM_024027.5(COLEC11):c.432C>T (p.Ala144=)
|
rs141691492
|
0.00134
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn)
|
rs117692127
|
0.00133
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
NM_001458.5(FLNC):c.6005-9T>C
|
rs118124743
|
0.00133
|
NM_002133.3(HMOX1):c.330C>T (p.Ala110=)
|
rs150515195
|
0.00133
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_002772.3(TMPRSS15):c.1608A>G (p.Thr536=)
|
rs147743156
|
0.00133
|
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met)
|
rs202071400
|
0.00133
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)
|
rs35379711
|
0.00133
|
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)
|
rs142614369
|
0.00132
|
NM_001330700.2(TOP2B):c.2251T>A (p.Leu751Ile)
|
rs200930765
|
0.00132
|
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val)
|
rs143930021
|
0.00132
|
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys)
|
rs190657753
|
0.00132
|
NM_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu)
|
rs2233062
|
0.00132
|
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser)
|
rs144408326
|
0.00132
|
NM_153460.4(IL17RC):c.977C>T (p.Ala326Val)
|
rs11719981
|
0.00132
|
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln)
|
rs145229115
|
0.00131
|
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser)
|
rs200161440
|
0.00131
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_006947.4(SRP72):c.1803G>A (p.Gly601=)
|
rs143643243
|
0.00131
|
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
NM_002471.4(MYH6):c.4782G>A (p.Arg1594=)
|
rs142823394
|
0.00130
|
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)
|
rs2229560
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser)
|
rs140913916
|
0.00130
|
NM_153460.4(IL17RC):c.1203A>G (p.Arg401=)
|
rs138063632
|
0.00130
|
NM_000186.4(CFH):c.1707C>T (p.Cys569=)
|
rs144976181
|
0.00129
|
NM_001492.6(GDF1):c.55C>G (p.Leu19Val)
|
rs370986101
|
0.00129
|
NM_002693.3(POLG):c.1585+11T>C
|
rs201566815
|
0.00129
|
NM_006306.4(SMC1A):c.1545+4A>C
|
rs377270943
|
0.00129
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_080387.5(CLEC4D):c.177G>A (p.Glu59=)
|
rs138087450
|
0.00129
|
NM_001267550.2(TTN):c.1002C>T (p.Thr334=)
|
rs148094198
|
0.00128
|
NM_001267550.2(TTN):c.36285C>T (p.His12095=)
|
rs201184203
|
0.00128
|
NM_001378969.1(KCND3):c.117T>C (p.Asp39=)
|
rs12720446
|
0.00128
|
NM_001382347.1(MYO5A):c.2067C>G (p.Thr689=)
|
rs111806567
|
0.00128
|
NM_001770.6(CD19):c.1580-4C>A
|
rs148808609
|
0.00128
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_006567.5(FARS2):c.606G>A (p.Lys202=)
|
rs17851782
|
0.00128
|
NM_007254.4(PNKP):c.831G>A (p.Thr277=)
|
rs148491228
|
0.00128
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_016373.4(WWOX):c.1035G>A (p.Ala345=)
|
rs189695070
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_032588.4(TRIM63):c.143C>T (p.Ala48Val)
|
rs140523053
|
0.00128
|
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)
|
rs145551486
|
0.00128
|
NM_000631.5(NCF4):c.271+7G>A
|
rs201881905
|
0.00127
|
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)
|
rs79392371
|
0.00127
|
NM_001385012.1(NBEA):c.3833G>A (p.Arg1278Gln)
|
rs193066744
|
0.00127
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_001458.5(FLNC):c.1813+11G>T
|
rs138716837
|
0.00126
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
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_004615.4(TSPAN7):c.515C>A (p.Pro172His)
|
rs104894951
|
0.00126
|
NM_006389.5(HYOU1):c.2029G>A (p.Val677Ile)
|
rs147081612
|
0.00126
|
NM_018489.3(ASH1L):c.3319A>G (p.Ile1107Val)
|
rs140137038
|
0.00126
|
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=)
|
rs186639101
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_000439.5(PCSK1):c.1197-9C>T
|
rs200973203
|
0.00125
|
NM_000628.5(IL10RB):c.442G>A (p.Val148Met)
|
rs45545138
|
0.00125
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln)
|
rs202113575
|
0.00125
|
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
|
rs148970984
|
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_001458.5(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
0.00124
|
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)
|
rs143511306
|
0.00124
|
NM_000044.6(AR):c.1937C>A (p.Ala646Asp)
|
rs1800053
|
0.00123
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
NM_001101426.4(CRPPA):c.790-14T>C
|
rs142414812
|
0.00123
|
NM_005045.4(RELN):c.3123C>T (p.Gly1041=)
|
rs41276148
|
0.00123
|
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu)
|
rs140254802
|
0.00123
|
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)
|
rs139677898
|
0.00123
|
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)
|
rs200055351
|
0.00123
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_001330360.2(POLA1):c.4185C>T (p.Tyr1395=)
|
rs61756363
|
0.00122
|
NM_003179.3(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570
|
0.00122
|
NM_005120.3(MED12):c.5748+16G>T
|
rs199760183
|
0.00122
|
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00122
|
NM_018082.6(POLR3B):c.1873T>C (p.Leu625=)
|
rs139376910
|
0.00122
|
NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln)
|
rs140628502
|
0.00122
|
NM_000215.4(JAK3):c.1581G>A (p.Leu527=)
|
rs3213408
|
0.00121
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
NM_000562.3(C8A):c.606T>C (p.Asp202=)
|
rs150755683
|
0.00121
|
NM_001005498.4(RHBDF2):c.2064+7A>G
|
rs201734337
|
0.00121
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)
|
rs147831309
|
0.00121
|
NM_001550.4(IFRD1):c.568-10T>A
|
rs565300368
|
0.00121
|
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=)
|
rs143792929
|
0.00121
|
NM_004517.4(ILK):c.631C>T (p.Arg211Cys)
|
rs140322345
|
0.00121
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_005356.5(LCK):c.601G>A (p.Gly201Ser)
|
rs11567841
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00121
|
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00120
|
NM_001201550.3(CFHR4):c.983C>T (p.Thr328Ile)
|
rs200497324
|
0.00120
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)
|
rs28763920
|
0.00120
|
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)
|
rs116719245
|
0.00120
|
NM_018668.5(VPS33B):c.357G>A (p.Lys119=)
|
rs146758743
|
0.00120
|
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=)
|
rs55807353
|
0.00120
|
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)
|
rs188739870
|
0.00120
|
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)
|
rs200971254
|
0.00119
|
NM_001378452.1(ITPR1):c.4843-8C>T
|
rs41304179
|
0.00119
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=)
|
rs187325866
|
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_014629.4(ARHGEF10):c.2921+5G>C
|
rs112954668
|
0.00119
|
NM_030930.4(UNC93B1):c.135G>A (p.Glu45=)
|
rs572359733
|
0.00119
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
NM_000064.4(C3):c.2067G>A (p.Glu689=)
|
rs147477257
|
0.00118
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_001365951.3(KIF1B):c.3259+9A>G
|
rs149566646
|
0.00118
|
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
|
rs143713841
|
0.00118
|
NM_153460.4(IL17RC):c.969C>T (p.Pro323=)
|
rs137952141
|
0.00118
|
NM_000335.5(SCN5A):c.4297-14T>C
|
rs56104887
|
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_001374736.1(DST):c.17108+10A>G
|
rs191140581
|
0.00117
|
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)
|
rs145644275
|
0.00117
|
NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser)
|
rs2433786
|
0.00117
|
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp)
|
rs199972068
|
0.00117
|
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)
|
rs2227871
|
0.00116
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_000878.5(IL2RB):c.126C>T (p.Ala42=)
|
rs148800183
|
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_001199138.2(NLRC4):c.2614+12A>T
|
rs187140134
|
0.00116
|
NM_001261826.3(AP3D1):c.810G>A (p.Thr270=)
|
rs200136075
|
0.00116
|
NM_002471.4(MYH6):c.1122G>A (p.Ala374=)
|
rs148091079
|
0.00116
|
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val)
|
rs142941257
|
0.00116
|
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)
|
rs115333628
|
0.00116
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_000815.5(GABRD):c.1107C>A (p.Gly369=)
|
rs148300882
|
0.00115
|
NM_001006658.3(CR2):c.1458T>C (p.Phe486=)
|
rs147378770
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_001374736.1(DST):c.258A>G (p.Ala86=)
|
rs201106926
|
0.00115
|
NM_005391.5(PDK3):c.376A>G (p.Met126Val)
|
rs138321172
|
0.00115
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00114
|
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)
|
rs145296488
|
0.00114
|
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)
|
rs138771398
|
0.00114
|
NM_001943.5(DSG2):c.2703A>G (p.Lys901=)
|
rs113591687
|
0.00114
|
NM_002473.6(MYH9):c.705+11C>T
|
rs201738304
|
0.00114
|
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=)
|
rs143168081
|
0.00114
|
NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr)
|
rs145484343
|
0.00114
|
NM_014704.4(CEP104):c.2736C>T (p.Gly912=)
|
rs148360595
|
0.00114
|
NM_025099.6(CTC1):c.147C>T (p.Val49=)
|
rs201492796
|
0.00114
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
NM_001083116.3(PRF1):c.528C>T (p.Cys176=)
|
rs138588977
|
0.00113
|
NM_001282933.2(ZNF341):c.2148C>T (p.Cys716=)
|
rs61734271
|
0.00113
|
NM_001365999.1(SZT2):c.2955C>T (p.Cys985=)
|
rs151189395
|
0.00113
|
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=)
|
rs186970259
|
0.00113
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
NM_007126.5(VCP):c.1081+17C>T
|
rs200756991
|
0.00113
|
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu)
|
rs180913079
|
0.00113
|
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)
|
rs144455277
|
0.00113
|
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
|
rs116998555
|
0.00113
|
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)
|
rs150384293
|
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_002473.6(MYH9):c.2448C>T (p.Cys816=)
|
rs113285582
|
0.00112
|
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)
|
rs139520520
|
0.00112
|
NM_022369.4(STRA6):c.1685-5C>G
|
rs201730717
|
0.00112
|
NM_001458.5(FLNC):c.4581-5T>A
|
rs368660628
|
0.00111
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
NM_002474.3(MYH11):c.57C>T (p.Asn19=)
|
rs148464745
|
0.00111
|
NM_002661.5(PLCG2):c.1671G>A (p.Lys557=)
|
rs372347274
|
0.00111
|
NM_014476.6(PDLIM3):c.387G>A (p.Pro129=)
|
rs138670107
|
0.00111
|
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg)
|
rs72650664
|
0.00111
|
NM_153747.2(PIGC):c.393T>C (p.Tyr131=)
|
rs61747502
|
0.00111
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655
|
0.00110
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00109
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00109
|
NM_001365999.1(SZT2):c.3309+9C>T
|
rs140366288
|
0.00109
|
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly)
|
rs34592807
|
0.00109
|
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)
|
rs201065230
|
0.00109
|
NM_000081.4(LYST):c.4548C>T (p.Ser1516=)
|
rs116551057
|
0.00108
|
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=)
|
rs148366188
|
0.00108
|
NM_000395.3(CSF2RB):c.1503G>A (p.Ser501=)
|
rs145912937
|
0.00108
|
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)
|
rs113811959
|
0.00108
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
NM_006254.4(PRKCD):c.603C>T (p.Ile201=)
|
rs75794462
|
0.00108
|
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly)
|
rs139759084
|
0.00108
|
NM_014798.3(PLEKHM1):c.3168C>T (p.Ala1056=)
|
rs116886592
|
0.00108
|
NM_017909.4(RMND1):c.1209T>C (p.Asn403=)
|
rs75177593
|
0.00108
|
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)
|
rs140202670
|
0.00108
|
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)
|
rs143547136
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_001130823.3(DNMT1):c.493+8C>T
|
rs138998574
|
0.00107
|
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln)
|
rs188054898
|
0.00107
|
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)
|
rs142527379
|
0.00107
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
NM_001723.7(DST):c.6401C>T (p.Thr2134Met)
|
rs115983672
|
0.00107
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
NM_000611.6(CD59):c.150G>A (p.Ala50=)
|
rs149071679
|
0.00106
|
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=)
|
rs34827377
|
0.00106
|
NM_001843.4(CNTN1):c.804-8A>G
|
rs56172264
|
0.00106
|
NM_006267.5(RANBP2):c.1920A>G (p.Ala640=)
|
rs147080366
|
0.00106
|
NM_020401.4(NUP107):c.751A>T (p.Thr251Ser)
|
rs61756065
|
0.00106
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)
|
rs72646852
|
0.00105
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00105
|
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
|
rs147149459
|
0.00105
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_147686.4(TRAF3IP2):c.281G>A (p.Ser94Asn)
|
rs61756667
|
0.00105
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
NM_000188.3(HK1):c.2610-13T>A
|
rs140249926
|
0.00104
|
NM_001035.3(RYR2):c.1135G>A (p.Val379Met)
|
rs199693714
|
0.00104
|
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=)
|
rs34161326
|
0.00104
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_001943.5(DSG2):c.221A>G (p.His74Arg)
|
rs201855245
|
0.00104
|
NM_002661.5(PLCG2):c.923C>T (p.Ala308Val)
|
rs199636472
|
0.00104
|
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu)
|
rs199731143
|
0.00104
|
NM_000029.4(AGT):c.696T>C (p.Pro232=)
|
rs56010258
|
0.00103
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)
|
rs148848282
|
0.00103
|
NM_015662.3(IFT172):c.3530+7T>C
|
rs150882197
|
0.00103
|
NM_018979.4(WNK1):c.3112-10C>T
|
rs72650715
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_152468.5(TMC8):c.660T>C (p.Thr220=)
|
rs144040084
|
0.00103
|
NM_198252.3(GSN):c.1225G>A (p.Val409Met)
|
rs140042418
|
0.00103
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
NM_000215.4(JAK3):c.252G>A (p.Pro84=)
|
rs139738701
|
0.00102
|
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)
|
rs979342927
|
0.00102
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_003954.5(MAP3K14):c.1546G>A (p.Val516Ile)
|
rs367938510
|
0.00102
|
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649
|
0.00102
|
NM_006096.4(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062
|
0.00102
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000489.6(ATRX):c.846C>T (p.Ser282=)
|
rs148015780
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_001009944.3(PKD1):c.6915+14A>G
|
rs199559513
|
0.00101
|
NM_005751.5(AKAP9):c.9358+11T>C
|
rs199714035
|
0.00101
|
NM_006231.4(POLE):c.1360-6C>T
|
rs139836643
|
0.00101
|
NM_006279.5(ST3GAL3):c.118+10G>C
|
rs147330005
|
0.00101
|
NM_014467.3(SRPX2):c.481C>A (p.Arg161=)
|
rs150552508
|
0.00101
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
NM_025219.3(DNAJC5):c.107+10C>T
|
rs181906972
|
0.00101
|
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp)
|
rs145208009
|
0.00101
|
NM_000169.3(GLA):c.978G>A (p.Lys326=)
|
rs151195362
|
0.00100
|
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=)
|
rs201985055
|
0.00100
|
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=)
|
rs113155897
|
0.00100
|
NM_022114.4(PRDM16):c.3570G>A (p.Pro1190=)
|
rs541512137
|
0.00100
|
NM_022369.4(STRA6):c.357C>T (p.Pro119=)
|
rs139775570
|
0.00100
|
NM_024334.3(TMEM43):c.392+16G>A
|
rs150859949
|
0.00100
|
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=)
|
rs142307556
|
0.00100
|
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)
|
rs148700620
|
0.00099
|
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His)
|
rs138846756
|
0.00099
|
NM_001379286.1(ZNF423):c.3602-16C>T
|
rs200838088
|
0.00099
|
NM_015202.5(KATNIP):c.4668C>T (p.Thr1556=)
|
rs113619157
|
0.00099
|
NM_138927.4(SON):c.7105+10C>T
|
rs200288082
|
0.00099
|
NM_205836.3(FBXO38):c.3019C>A (p.Gln1007Lys)
|
rs112383068
|
0.00099
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=)
|
rs202078917
|
0.00098
|
NM_005045.4(RELN):c.4748-11T>C
|
rs201494847
|
0.00098
|
NM_005051.3(QARS1):c.1055+10G>C
|
rs372899947
|
0.00098
|
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val)
|
rs145480547
|
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_002582.4(PARN):c.1263-8T>G
|
rs182460499
|
0.00097
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=)
|
rs75650199
|
0.00097
|
NM_203447.4(DOCK8):c.580G>A (p.Val194Ile)
|
rs141210649
|
0.00097
|
NM_000091.5(COL4A3):c.222G>T (p.Pro74=)
|
rs187950806
|
0.00096
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
NM_001605.3(AARS1):c.1332G>A (p.Glu444=)
|
rs150442667
|
0.00096
|
NM_004706.4(ARHGEF1):c.2412C>T (p.Thr804=)
|
rs144745694
|
0.00096
|
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val)
|
rs147099510
|
0.00096
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln)
|
rs183328334
|
0.00096
|
NM_032578.4(MYPN):c.2880T>G (p.Ser960=)
|
rs146028308
|
0.00096
|
NM_052813.5(CARD9):c.288C>A (p.Gly96=)
|
rs137986801
|
0.00096
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)
|
rs146492238
|
0.00096
|
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_003047.5(SLC9A1):c.1821G>A (p.Gln607=)
|
rs139314838
|
0.00095
|
NM_004960.4(FUS):c.1566G>A (p.Arg522=)
|
rs138901914
|
0.00095
|
NM_005188.4(CBL):c.1227+20dup
|
rs530081144
|
0.00095
|
NM_007078.3(LDB3):c.993G>A (p.Ala331=)
|
rs140347820
|
0.00095
|
NM_020458.4(TTC7A):c.2085C>G (p.Pro695=)
|
rs139460494
|
0.00095
|
NM_020779.4(WDR35):c.770T>C (p.Val257Ala)
|
rs142955097
|
0.00095
|
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)
|
rs142126065
|
0.00095
|
NM_138927.4(SON):c.4399A>G (p.Ile1467Val)
|
rs142751481
|
0.00095
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_001079.4(ZAP70):c.1467C>T (p.Asp489=)
|
rs55997284
|
0.00094
|
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn)
|
rs138452803
|
0.00094
|
NM_001735.3(C5):c.3029C>T (p.Ala1010Val)
|
rs34362143
|
0.00094
|
NM_002661.5(PLCG2):c.432-3C>T
|
rs147749022
|
0.00094
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
NM_138382.3(RIPPLY1):c.362A>G (p.Asn121Ser)
|
rs41306259
|
0.00094
|
NM_001009944.3(PKD1):c.2109C>T (p.His703=)
|
rs527655141
|
0.00093
|
NM_001282933.2(ZNF341):c.1640A>G (p.Asn547Ser)
|
rs147329875
|
0.00093
|
NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu)
|
rs139027171
|
0.00093
|
NM_001556.3(IKBKB):c.-18-4A>G
|
rs200336151
|
0.00093
|
NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
NM_006070.6(TFG):c.258G>T (p.Leu86=)
|
rs150620449
|
0.00093
|
NM_006302.3(MOGS):c.12C>G (p.Gly4=)
|
rs555329045
|
0.00093
|
NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile)
|
rs191015656
|
0.00093
|
NM_021076.4(NEFH):c.883+16G>A
|
rs534281794
|
0.00093
|
NM_032578.4(MYPN):c.734C>G (p.Ala245Gly)
|
rs143574079
|
0.00093
|
NM_139058.3(ARX):c.802G>T (p.Val268Leu)
|
rs587783141
|
0.00093
|
NM_000214.3(JAG1):c.1578C>T (p.Ile526=)
|
rs1801139
|
0.00092
|
NM_001077418.3(TMEM231):c.-15C>T
|
rs138060715
|
0.00092
|
NM_001164508.2(NEB):c.16637G>A (p.Arg5546His)
|
rs201111610
|
0.00092
|
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)
|
rs147318592
|
0.00092
|
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=)
|
rs200894045
|
0.00092
|
NM_002471.4(MYH6):c.1083G>T (p.Gly361=)
|
rs138928022
|
0.00092
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_014967.5(FAN1):c.1194G>A (p.Glu398=)
|
rs141494062
|
0.00092
|
NM_015909.4(NBAS):c.5808C>T (p.Asn1936=)
|
rs141404162
|
0.00092
|
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met)
|
rs75813654
|
0.00091
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001037.5(SCN1B):c.5+7C>T
|
rs28365106
|
0.00091
|
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser)
|
rs147695488
|
0.00091
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
NM_002661.5(PLCG2):c.771T>C (p.His257=)
|
rs369555285
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)
|
rs201404751
|
0.00091
|
NM_014000.3(VCL):c.660C>T (p.Asn220=)
|
rs56264452
|
0.00091
|
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser)
|
rs146087534
|
0.00091
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=)
|
rs111588500
|
0.00090
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser)
|
rs61746118
|
0.00089
|
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr)
|
rs201820102
|
0.00089
|
NM_001136219.3(FCGR2A):c.363C>T (p.Ser121=)
|
rs151051324
|
0.00089
|
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro)
|
rs146191865
|
0.00089
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_001353812.2(ATP11C):c.571C>T (p.Arg191Cys)
|
rs140504622
|
0.00089
|
NM_001365951.3(KIF1B):c.2115+6581G>A
|
rs41274460
|
0.00089
|
NM_001374736.1(DST):c.5059-17C>G
|
rs190803185
|
0.00089
|
NM_001385012.1(NBEA):c.7767C>T (p.His2589=)
|
rs139508021
|
0.00089
|
NM_015107.3(PHF8):c.2131G>A (p.Glu711Lys)
|
rs41306749
|
0.00089
|
NM_033163.5(FGF8):c.582G>A (p.Thr194=)
|
rs147342890
|
0.00089
|
NM_138927.4(SON):c.4851A>G (p.Ala1617=)
|
rs146914239
|
0.00089
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)
|
rs36215251
|
0.00089
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
NM_000276.4(OCRL):c.40-5C>T
|
rs201211377
|
0.00088
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_001291303.3(FAT4):c.14940A>G (p.Glu4980=)
|
rs149073729
|
0.00088
|
NM_006785.4(MALT1):c.649+9C>T
|
rs200919386
|
0.00088
|
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln)
|
rs202065858
|
0.00088
|
NM_020822.3(KCNT1):c.1134C>T (p.Val378=)
|
rs149960236
|
0.00088
|
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)
|
rs201067154
|
0.00088
|
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=)
|
rs79869130
|
0.00088
|
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=)
|
rs148021416
|
0.00088
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_138295.5(PKD1L1):c.2979A>T (p.Ser993=)
|
rs147875086
|
0.00088
|
NM_138927.4(SON):c.3012T>C (p.Ala1004=)
|
rs148794591
|
0.00088
|
NM_181523.3(PIK3R1):c.427+5C>A
|
rs375394677
|
0.00088
|
NM_199355.4(ADAMTS18):c.1979G>A (p.Ser660Asn)
|
rs148442712
|
0.00088
|
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=)
|
rs61753644
|
0.00088
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001735.3(C5):c.989T>C (p.Ile330Thr)
|
rs147430470
|
0.00087
|
NM_003665.4(FCN3):c.498G>C (p.Glu166Asp)
|
rs56405086
|
0.00087
|
NM_006267.5(RANBP2):c.8599+16G>A
|
rs145152325
|
0.00087
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
NM_017491.5(WDR1):c.507C>T (p.Asn169=)
|
rs370876028
|
0.00087
|
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=)
|
rs143198263
|
0.00087
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_000593.6(TAP1):c.465C>T (p.His155=)
|
rs56016563
|
0.00086
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00086
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
NM_004356.4(CD81):c.654C>T (p.Phe218=)
|
rs139978456
|
0.00086
|
NM_016203.4(PRKAG2):c.1584+7C>T
|
rs111627309
|
0.00086
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
NM_031942.5(CDCA7):c.45G>A (p.Lys15=)
|
rs139753635
|
0.00086
|
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg)
|
rs147640636
|
0.00086
|
NM_000208.4(INSR):c.2970G>A (p.Pro990=)
|
rs41304772
|
0.00085
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
NM_003327.4(TNFRSF4):c.619G>A (p.Val207Met)
|
rs201461846
|
0.00085
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=)
|
rs200003914
|
0.00085
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_001734.5(C1S):c.1326C>T (p.Ser442=)
|
rs148573885
|
0.00084
|
NM_002661.5(PLCG2):c.1859C>T (p.Thr620Met)
|
rs147396004
|
0.00084
|
NM_004958.4(MTOR):c.3630T>C (p.Asp1210=)
|
rs377751542
|
0.00084
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
NM_000282.4(PCCA):c.1065+5C>T
|
rs201597816
|
0.00083
|
NM_001242823.2(C4B_2):c.3358C>A (p.Leu1120Ile)
|
rs201206908
|
0.00083
|
NM_001244008.2(KIF1A):c.2117-20C>T
|
rs200852469
|
0.00083
|
NM_001283009.2(RTEL1):c.1348+6G>A
|
rs371358328
|
0.00083
|
NM_001290043.2(TAP2):c.1462-7T>C
|
rs201974007
|
0.00083
|
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser)
|
rs150806357
|
0.00083
|
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=)
|
rs368849358
|
0.00083
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_015909.4(NBAS):c.5440T>C (p.Leu1814=)
|
rs141034921
|
0.00083
|
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro)
|
rs146970674
|
0.00083
|
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=)
|
rs57260464
|
0.00083
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
NM_173689.7(CRB2):c.516C>T (p.Cys172=)
|
rs146687164
|
0.00083
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
NM_000257.4(MYH7):c.1395C>T (p.Phe465=)
|
rs45508293
|
0.00082
|
NM_000789.4(ACE):c.45G>C (p.Pro15=)
|
rs1110991
|
0.00082
|
NM_001136219.3(FCGR2A):c.418A>G (p.Met140Val)
|
rs4986941
|
0.00082
|
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)
|
rs200596619
|
0.00082
|
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val)
|
rs151080025
|
0.00082
|
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)
|
rs149296737
|
0.00082
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_007259.5(VPS45):c.290-10T>C
|
rs192850081
|
0.00081
|
NM_015158.5(KANK1):c.1491G>A (p.Ser497=)
|
rs114649126
|
0.00081
|
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)
|
rs139253468
|
0.00081
|
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
|
rs145758265
|
0.00081
|
NM_176869.3(PPA2):c.222+4T>A
|
rs200307466
|
0.00081
|
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=)
|
rs143265128
|
0.00080
|
NM_004517.4(ILK):c.65A>G (p.Asn22Ser)
|
rs114115159
|
0.00080
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_001130144.3(LTBP3):c.1064-10C>T
|
rs202221935
|
0.00079
|
NM_001365999.1(SZT2):c.9555C>T (p.His3185=)
|
rs150150240
|
0.00079
|
NM_003954.5(MAP3K14):c.326+10G>A
|
rs372339711
|
0.00079
|
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)
|
rs79782048
|
0.00079
|
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)
|
rs143342988
|
0.00079
|
NM_031407.7(HUWE1):c.10707T>C (p.Phe3569=)
|
rs150358853
|
0.00079
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_000257.4(MYH7):c.261C>T (p.Ile87=)
|
rs148560996
|
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_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)
|
rs150317197
|
0.00078
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
NM_000122.2(ERCC3):c.618C>T (p.Ala206=)
|
rs145830873
|
0.00077
|
NM_000213.5(ITGB4):c.5172C>T (p.Phe1724=)
|
rs144339436
|
0.00077
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
NM_001077365.2(POMT1):c.986+9A>G
|
rs202095070
|
0.00077
|
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)
|
rs113631419
|
0.00077
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
NM_001458.5(FLNC):c.7990+9C>T
|
rs566679569
|
0.00077
|
NM_004958.4(MTOR):c.2070G>A (p.Ala690=)
|
rs55752564
|
0.00077
|
NM_021245.4(MYOZ1):c.147G>A (p.Leu49=)
|
rs144920278
|
0.00077
|
NM_000064.4(C3):c.600-12C>T
|
rs200316931
|
0.00076
|
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00076
|
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr)
|
rs201098973
|
0.00076
|
NM_000335.5(SCN5A):c.2437-13C>T
|
rs45455099
|
0.00076
|
NM_001172303.3(MASTL):c.2120A>T (p.His707Leu)
|
rs34635408
|
0.00076
|
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=)
|
rs143840033
|
0.00076
|
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)
|
rs104895467
|
0.00076
|
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)
|
rs201333104
|
0.00076
|
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)
|
rs112236653
|
0.00076
|
NM_004974.4(KCNA2):c.213C>T (p.Pro71=)
|
rs116111724
|
0.00076
|
NM_005245.4(FAT1):c.2734G>A (p.Val912Ile)
|
rs200097846
|
0.00076
|
NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr)
|
rs138714806
|
0.00076
|
NM_016122.3(CEP83):c.1151A>G (p.Lys384Arg)
|
rs185058802
|
0.00076
|
NM_016532.4(INPP5K):c.693G>A (p.Pro231=)
|
rs151311702
|
0.00076
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
NM_003183.6(ADAM17):c.435C>G (p.Ala145=)
|
rs143124556
|
0.00075
|
NM_004960.4(FUS):c.1464C>T (p.Gly488=)
|
rs150529460
|
0.00075
|
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
|
rs190023981
|
0.00075
|
NM_024589.3(ROGDI):c.783C>T (p.Phe261=)
|
rs142481526
|
0.00075
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00074
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
NM_001159699.2(FHL1):c.786C>T (p.His262=)
|
rs141231353
|
0.00074
|
NM_006439.5(MAB21L2):c.954C>T (p.His318=)
|
rs201523389
|
0.00074
|
NM_000303.3(PMM2):c.640-13C>T
|
rs372181885
|
0.00073
|
NM_000501.4(ELN):c.1232T>G (p.Val411Gly)
|
rs200180992
|
0.00073
|
NM_000878.5(IL2RB):c.1152C>T (p.Tyr384=)
|
rs146986731
|
0.00073
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00073
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val)
|
rs104895447
|
0.00073
|
NM_001943.5(DSG2):c.216+16G>A
|
rs200239610
|
0.00073
|
NM_002582.4(PARN):c.825C>T (p.His275=)
|
rs374114285
|
0.00073
|
NM_002788.4(PSMA3):c.510G>A (p.Arg170=)
|
rs17852654
|
0.00073
|
NM_003640.5(ELP1):c.3347-15A>G
|
rs200154542
|
0.00073
|
NM_018896.5(CACNA1G):c.1646G>C (p.Gly549Ala)
|
rs527691624
|
0.00073
|
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)
|
rs200059077
|
0.00073
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile)
|
rs150546646
|
0.00073
|
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)
|
rs113962905
|
0.00073
|
NM_000481.4(AMT):c.354G>A (p.Leu118=)
|
rs145194293
|
0.00072
|
NM_001079.4(ZAP70):c.1638G>A (p.Pro546=)
|
rs115143372
|
0.00072
|
NM_001105206.3(LAMA4):c.2950G>A (p.Val984Ile)
|
rs145648026
|
0.00072
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
NM_004100.5(EYA4):c.277+9G>A
|
rs145320803
|
0.00072
|
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385
|
0.00072
|
NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr)
|
rs201984254
|
0.00072
|
NM_031471.6(FERMT3):c.615C>T (p.Pro205=)
|
rs142774418
|
0.00072
|
NM_033004.4(NLRP1):c.3973G>A (p.Val1325Ile)
|
rs144711602
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser)
|
rs147472574
|
0.00071
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val)
|
rs200728466
|
0.00071
|
NM_001267550.2(TTN):c.1246-16G>A
|
rs72647847
|
0.00071
|
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=)
|
rs377035512
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_000551.4(VHL):c.150C>G (p.Ala50=)
|
rs61751580
|
0.00070
|
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=)
|
rs138116334
|
0.00070
|
NM_001077415.3(CRELD1):c.985C>T (p.Arg329Cys)
|
rs28942091
|
0.00070
|
NM_001113491.2(SEPTIN9):c.914-4C>T
|
rs199809734
|
0.00070
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
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_001382567.1(STIM1):c.2079C>A (p.Gly693=)
|
rs147912041
|
0.00070
|
NM_001556.3(IKBKB):c.1677G>T (p.Thr559=)
|
rs143855451
|
0.00070
|
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly)
|
rs73226383
|
0.00070
|
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile)
|
rs56080897
|
0.00070
|
NM_014339.7(IL17RA):c.833G>A (p.Arg278His)
|
rs141467790
|
0.00070
|
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)
|
rs73668312
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_138927.4(SON):c.5964T>C (p.Pro1988=)
|
rs139304331
|
0.00070
|
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)
|
rs138039591
|
0.00069
|
NM_000363.5(TNNI3):c.25-4C>T
|
rs202086705
|
0.00069
|
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
|
rs146839867
|
0.00069
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln)
|
rs117423374
|
0.00069
|
NM_003331.5(TYK2):c.44T>C (p.Val15Ala)
|
rs144960992
|
0.00069
|
NM_003661.4(APOL1):c.318T>C (p.Asn106=)
|
rs141898256
|
0.00069
|
NM_004484.4(GPC3):c.1032+9C>T
|
rs200782847
|
0.00069
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
NM_182916.3(TRNT1):c.331A>G (p.Ile111Val)
|
rs149263693
|
0.00069
|
NM_000064.4(C3):c.876+19G>A
|
rs11569574
|
0.00068
|
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala)
|
rs138783302
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001320752.2(STS):c.1124G>C (p.Gly375Ala)
|
rs145886038
|
0.00068
|
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met)
|
rs145502954
|
0.00068
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00068
|
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val)
|
rs142768885
|
0.00068
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_020822.3(KCNT1):c.3503-18C>T
|
rs373901872
|
0.00068
|
NM_024782.3(NHEJ1):c.560A>G (p.Asn187Ser)
|
rs146861504
|
0.00068
|
NM_031471.6(FERMT3):c.332G>A (p.Arg111His)
|
rs145419469
|
0.00068
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_001276345.2(TNNT2):c.98-81G>A
|
rs45576939
|
0.00067
|
NM_001278512.2(AP3B2):c.2349C>T (p.Ser783=)
|
rs143109436
|
0.00067
|
NM_001734.5(C1S):c.1284C>G (p.Pro428=)
|
rs144851896
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
NM_001077415.3(CRELD1):c.1049-299C>G
|
rs41276501
|
0.00066
|
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=)
|
rs146426213
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001375405.1(CEP120):c.1671G>A (p.Leu557=)
|
rs75289011
|
0.00066
|
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn)
|
rs78753252
|
0.00066
|
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys)
|
rs140506776
|
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_031157.4(HNRNPA1):c.546A>G (p.Ser182=)
|
rs200707918
|
0.00066
|
NM_033380.3(COL4A5):c.3808+7C>T
|
rs371130625
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile)
|
rs140991712
|
0.00065
|
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)
|
rs372260338
|
0.00065
|
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=)
|
rs186619828
|
0.00065
|
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=)
|
rs200835571
|
0.00065
|
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile)
|
rs530486445
|
0.00065
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
NM_001370298.3(FGD4):c.167-29728T>C
|
rs561223009
|
0.00065
|
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His)
|
rs61757663
|
0.00065
|
NM_152415.3(VPS37A):c.1176A>G (p.Gln392=)
|
rs117336150
|
0.00065
|
NM_000335.5(SCN5A):c.630G>A (p.Val210=)
|
rs193922727
|
0.00064
|
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile)
|
rs70940811
|
0.00064
|
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=)
|
rs146926941
|
0.00064
|
NM_004260.4(RECQL4):c.1621-8A>G
|
rs373357384
|
0.00064
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
NM_018941.4(CLN8):c.546G>A (p.Ala182=)
|
rs144047076
|
0.00064
|
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala)
|
rs78006948
|
0.00064
|
NM_033004.4(NLRP1):c.3654C>A (p.Leu1218=)
|
rs138536037
|
0.00064
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
NM_203446.3(SYNJ1):c.*552G>A
|
rs146425050
|
0.00064
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_001035.3(RYR2):c.1110A>G (p.Leu370=)
|
rs150705689
|
0.00063
|
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=)
|
rs151241634
|
0.00063
|
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=)
|
rs142197878
|
0.00063
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
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_003900.5(SQSTM1):c.924G>A (p.Ala308=)
|
rs139482113
|
0.00063
|
NM_004172.5(SLC1A3):c.320-7C>T
|
rs200867287
|
0.00063
|
NM_005245.4(FAT1):c.3929C>T (p.Ser1310Leu)
|
rs200252550
|
0.00063
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_006516.4(SLC2A1):c.276-7T>C
|
rs369273744
|
0.00063
|
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser)
|
rs555920534
|
0.00063
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)
|
rs142415050
|
0.00063
|
NM_032782.5(HAVCR2):c.776G>A (p.Arg259His)
|
rs138681649
|
0.00063
|
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)
|
rs147202164
|
0.00063
|
NM_080647.1(TBX1):c.-39C>T
|
rs72646950
|
0.00063
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
NM_182919.4(TICAM1):c.238G>A (p.Val80Met)
|
rs199816697
|
0.00063
|
NM_201596.3(CACNB2):c.209G>A (p.Arg70His)
|
rs150722502
|
0.00063
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=)
|
rs145615604
|
0.00062
|
NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=)
|
rs190643171
|
0.00062
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)
|
rs151051452
|
0.00062
|
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=)
|
rs200489622
|
0.00062
|
NM_152274.5(CCNQ):c.627C>T (p.Ala209=)
|
rs139186601
|
0.00062
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=)
|
rs150885220
|
0.00061
|
NM_000379.4(XDH):c.3052-4C>T
|
rs370085305
|
0.00061
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_000875.5(IGF1R):c.2202-16T>G
|
rs187330252
|
0.00061
|
NM_001122681.2(SH3BP2):c.441G>A (p.Ser147=)
|
rs145235325
|
0.00061
|
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys)
|
rs201493373
|
0.00061
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001267550.2(TTN):c.9703+17T>A
|
rs377693857
|
0.00061
|
NM_001365276.2(TNXB):c.9663G>A (p.Val3221=)
|
rs2242569
|
0.00061
|
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)
|
rs149346064
|
0.00061
|
NM_001368067.1(LDB3):c.780C>T (p.Asn260=)
|
rs372789789
|
0.00061
|
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=)
|
rs28730859
|
0.00061
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)
|
rs140654955
|
0.00061
|
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)
|
rs151251039
|
0.00061
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
NM_004172.5(SLC1A3):c.15T>C (p.Asn5=)
|
rs143791614
|
0.00061
|
NM_005751.5(AKAP9):c.1737T>G (p.Ser579=)
|
rs138049714
|
0.00061
|
NM_005883.3(APC2):c.4557G>A (p.Pro1519=)
|
rs111280997
|
0.00061
|
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile)
|
rs140280672
|
0.00061
|
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)
|
rs374146357
|
0.00061
|
NM_015419.4(MXRA5):c.6907G>A (p.Val2303Ile)
|
rs201973408
|
0.00061
|
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile)
|
rs143491198
|
0.00061
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
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_177924.5(ASAH1):c.382+10A>G
|
rs201735910
|
0.00061
|
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)
|
rs146490788
|
0.00061
|
NM_203447.4(DOCK8):c.5962-8C>T
|
rs749575443
|
0.00061
|
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp)
|
rs146350208
|
0.00060
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
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_001111125.3(IQSEC2):c.2508G>A (p.Ala836=)
|
rs2274308
|
0.00060
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
NM_001374736.1(DST):c.11542-8C>T
|
rs370887046
|
0.00060
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_005257.6(GATA6):c.855G>T (p.Ala285=)
|
rs1014349671
|
0.00060
|
NM_012301.4(MAGI2):c.3706+5G>A
|
rs188293910
|
0.00060
|
NM_013236.4(ATXN10):c.76C>T (p.Leu26=)
|
rs186793141
|
0.00060
|
NM_014874.4(MFN2):c.-4-13G>T
|
rs373679523
|
0.00060
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys)
|
rs17875899
|
0.00059
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro)
|
rs142985138
|
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_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
NM_018896.5(CACNA1G):c.3024C>T (p.Pro1008=)
|
rs60632394
|
0.00059
|
NM_025074.7(FRAS1):c.2598C>T (p.Thr866=)
|
rs149802708
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_133379.5(TTN):c.10920T>C (p.Ser3640=)
|
rs142585268
|
0.00059
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=)
|
rs200663253
|
0.00058
|
NM_000944.5(PPP3CA):c.91G>T (p.Ala31Ser)
|
rs200056844
|
0.00058
|
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)
|
rs72558029
|
0.00058
|
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=)
|
rs748742452
|
0.00058
|
NM_001365276.2(TNXB):c.6972G>A (p.Thr2324=)
|
rs202133293
|
0.00058
|
NM_001377405.1(ATXN7):c.1012+13T>A
|
rs183496477
|
0.00058
|
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln)
|
rs145949718
|
0.00058
|
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)
|
rs794727076
|
0.00058
|
NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=)
|
rs370408732
|
0.00057
|
NM_000501.4(ELN):c.1507G>A (p.Val503Met)
|
rs41523046
|
0.00057
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
NM_005245.4(FAT1):c.1146C>A (p.Pro382=)
|
rs371822287
|
0.00057
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_182972.3(IRF2BP2):c.453G>C (p.Pro151=)
|
rs567164754
|
0.00057
|
NM_000124.4(ERCC6):c.1992+7C>T
|
rs373710355
|
0.00056
|
NM_000234.3(LIG1):c.108-5T>C
|
rs200668350
|
0.00056
|
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)
|
rs201488545
|
0.00056
|
NM_001572.5(IRF7):c.739G>A (p.Gly247Arg)
|
rs201379782
|
0.00056
|
NM_001743.6(CALM2):c.243C>T (p.Asp81=)
|
rs141298844
|
0.00056
|
NM_002474.3(MYH11):c.429G>A (p.Lys143=)
|
rs200672270
|
0.00056
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)
|
rs373411041
|
0.00056
|
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp)
|
rs117173425
|
0.00056
|
NM_014813.3(LRIG2):c.6G>C (p.Ala2=)
|
rs140301079
|
0.00056
|
NM_016464.5(TMEM138):c.102T>A (p.Thr34=)
|
rs139387935
|
0.00056
|
NM_033004.4(NLRP1):c.4128G>A (p.Pro1376=)
|
rs199842944
|
0.00056
|
NM_201378.4(PLEC):c.71-11923G>A
|
rs200842821
|
0.00056
|
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala)
|
rs138809301
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_001365999.1(SZT2):c.1791C>T (p.His597=)
|
rs151110718
|
0.00055
|
NM_001709.5(BDNF):c.-21-15601_-21-15600del
|
rs539177035
|
0.00055
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
NM_013266.4(CTNNA3):c.1929C>T (p.His643=)
|
rs147760277
|
0.00055
|
NM_014639.4(SKIC3):c.3341+9A>G
|
rs376170264
|
0.00055
|
NM_016203.4(PRKAG2):c.1106+9G>C
|
rs200429988
|
0.00055
|
NM_018979.4(WNK1):c.4320C>T (p.Ile1440=)
|
rs72650730
|
0.00055
|
NM_133459.4(CCBE1):c.519A>G (p.Thr173=)
|
rs141327514
|
0.00055
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
NM_000383.4(AIRE):c.1476C>T (p.Pro492=)
|
rs72650679
|
0.00054
|
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=)
|
rs147734401
|
0.00054
|
NM_001018005.2(TPM1):c.*68A>G
|
rs374459540
|
0.00054
|
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)
|
rs200529923
|
0.00054
|
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)
|
rs200258756
|
0.00054
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
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_002470.4(MYH3):c.3731C>T (p.Ala1244Val)
|
rs140074626
|
0.00054
|
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=)
|
rs727505358
|
0.00054
|
NM_006950.3(SYN1):c.426A>G (p.Lys142=)
|
rs145911562
|
0.00054
|
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr)
|
rs45539535
|
0.00054
|
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449
|
0.00054
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_181078.3(IL21R):c.426C>T (p.Tyr142=)
|
rs137868301
|
0.00054
|
NM_000335.5(SCN5A):c.895T>A (p.Leu299Met)
|
rs199473087
|
0.00053
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000417.3(IL2RA):c.711A>G (p.Thr237=)
|
rs11256354
|
0.00053
|
NM_001032221.6(STXBP1):c.326-8A>G
|
rs180716154
|
0.00053
|
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844
|
0.00053
|
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)
|
rs192725607
|
0.00053
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
NM_003042.4(SLC6A1):c.846C>T (p.Ser282=)
|
rs139315755
|
0.00053
|
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=)
|
rs55789637
|
0.00053
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys)
|
rs200930841
|
0.00053
|
NM_017553.3(INO80):c.2998C>T (p.Arg1000Cys)
|
rs149600837
|
0.00053
|
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser)
|
rs112039037
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=)
|
rs373341589
|
0.00053
|
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu)
|
rs144045691
|
0.00052
|
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys)
|
rs149963885
|
0.00052
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
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_004484.4(GPC3):c.359G>A (p.Arg120His)
|
rs148021273
|
0.00052
|
NM_006258.4(PRKG1):c.1963-16T>G
|
rs376174664
|
0.00052
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
NM_024408.4(NOTCH2):c.1567+8C>T
|
rs372367275
|
0.00052
|
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=)
|
rs150936204
|
0.00052
|
NM_152266.5(FAAP24):c.312A>G (p.Leu104=)
|
rs146829849
|
0.00052
|
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)
|
rs146801942
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_000057.4(BLM):c.465T>C (p.Asp155=)
|
rs185349681
|
0.00051
|
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)
|
rs78950939
|
0.00051
|
NM_000454.5(SOD1):c.72+19G>A
|
rs201574089
|
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_001103.4(ACTN2):c.927C>T (p.Pro309=)
|
rs145411160
|
0.00051
|
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=)
|
rs35772073
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=)
|
rs187115247
|
0.00051
|
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu)
|
rs34676691
|
0.00051
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NM_004208.4(AIFM1):c.72C>T (p.Cys24=)
|
rs373609902
|
0.00051
|
NM_005245.4(FAT1):c.4516C>T (p.Arg1506Cys)
|
rs199516712
|
0.00051
|
NM_014000.3(VCL):c.2521G>C (p.Asp841His)
|
rs150385900
|
0.00051
|
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)
|
rs143290224
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_020297.4(ABCC9):c.372T>C (p.Asn124=)
|
rs377384557
|
0.00051
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_024496.4(IRF2BPL):c.387C>T (p.Asn129=)
|
rs767883776
|
0.00051
|
NM_199242.3(UNC13D):c.2553+5C>G
|
rs201930023
|
0.00051
|
NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=)
|
rs151344628
|
0.00050
|
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=)
|
rs763419895
|
0.00050
|
NM_001365276.2(TNXB):c.7954G>A (p.Glu2652Lys)
|
rs202211608
|
0.00050
|
NM_001378156.1(C1QB):c.621C>T (p.Thr207=)
|
rs149718049
|
0.00050
|
NM_004484.4(GPC3):c.660C>T (p.Ser220=)
|
rs138450923
|
0.00050
|
NM_004531.5(MOCS2):c.510C>T (p.Tyr170=)
|
rs77310478
|
0.00050
|
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu)
|
rs146950983
|
0.00050
|
NM_006254.4(PRKCD):c.1362C>T (p.Ala454=)
|
rs41295962
|
0.00050
|
NM_198253.3(TERT):c.2106G>A (p.Pro702=)
|
rs151055240
|
0.00050
|
NM_000186.4(CFH):c.285T>C (p.Thr95=)
|
rs148182625
|
0.00049
|
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=)
|
rs140019543
|
0.00049
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_001148.6(ANK2):c.231G>A (p.Val77=)
|
rs149699185
|
0.00049
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
NM_001379200.1(TBX1):c.540-8C>T
|
rs72646960
|
0.00049
|
NM_002838.5(PTPRC):c.3073-6A>G
|
rs191867796
|
0.00049
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_004407.4(DMP1):c.1107C>T (p.Asp369=)
|
rs147451774
|
0.00049
|
NM_017864.4(INTS8):c.1665T>C (p.Ser555=)
|
rs373374701
|
0.00049
|
NM_031885.5(BBS2):c.472-10T>C
|
rs138714256
|
0.00049
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn)
|
rs147977741
|
0.00049
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)
|
rs3729712
|
0.00048
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)
|
rs142199602
|
0.00048
|
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg)
|
rs138723332
|
0.00048
|
NM_001386125.1(OBSCN):c.11476C>T (p.Arg3826Cys)
|
rs368391379
|
0.00048
|
NM_001845.6(COL4A1):c.708C>G (p.Val236=)
|
rs139523466
|
0.00048
|
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu)
|
rs150033906
|
0.00048
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
NM_006284.4(TAF10):c.*1629G>A
|
rs149710421
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=)
|
rs369515171
|
0.00048
|
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)
|
rs554853074
|
0.00048
|
NM_020774.4(MIB1):c.2586+17A>G
|
rs370642266
|
0.00048
|
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)
|
rs200378626
|
0.00048
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)
|
rs183674012
|
0.00048
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_001174147.2(LMX1B):c.140-4A>G
|
rs368126014
|
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_001303256.3(MORC2):c.1499-9T>C
|
rs201213165
|
0.00047
|
NM_001365276.2(TNXB):c.1302C>G (p.Ala434=)
|
rs767040315
|
0.00047
|
NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=)
|
rs148934769
|
0.00047
|
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)
|
rs115223340
|
0.00047
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
NM_015330.6(SPECC1L):c.496A>G (p.Met166Val)
|
rs199673620
|
0.00047
|
NM_019842.4(KCNQ5):c.1689A>G (p.Arg563=)
|
rs116950019
|
0.00047
|
NM_024782.3(NHEJ1):c.57A>G (p.Ala19=)
|
rs61757394
|
0.00047
|
NM_138295.5(PKD1L1):c.5108G>A (p.Arg1703His)
|
rs146605392
|
0.00047
|
NM_000081.4(LYST):c.143A>G (p.His48Arg)
|
rs200132460
|
0.00046
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
NM_000552.5(VWF):c.7344C>T (p.Cys2448=)
|
rs55944252
|
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_001099922.3(ALG13):c.2485A>G (p.Met829Val)
|
rs368075878
|
0.00046
|
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)
|
rs145897390
|
0.00046
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=)
|
rs146979083
|
0.00046
|
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=)
|
rs375626512
|
0.00046
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)
|
rs112990531
|
0.00046
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
NM_005720.4(ARPC1B):c.432C>T (p.Thr144=)
|
rs148826187
|
0.00046
|
NM_006888.6(CALM1):c.303C>T (p.Ile101=)
|
rs143503733
|
0.00046
|
NM_007254.4(PNKP):c.672C>T (p.Arg224=)
|
rs151180981
|
0.00046
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
NM_021245.4(MYOZ1):c.343G>A (p.Gly115Ser)
|
rs139908512
|
0.00046
|
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe)
|
rs144152046
|
0.00046
|
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)
|
rs200996053
|
0.00045
|
NM_000091.5(COL4A3):c.2826C>T (p.Pro942=)
|
rs201064766
|
0.00045
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00045
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=)
|
rs116788553
|
0.00045
|
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=)
|
rs143163487
|
0.00045
|
NM_001395656.1(ROBO2):c.4341C>T (p.Gly1447=)
|
rs184958084
|
0.00045
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_004172.5(SLC1A3):c.648T>C (p.Asn216=)
|
rs139342707
|
0.00045
|
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)
|
rs143847495
|
0.00045
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_053025.4(MYLK):c.999G>A (p.Pro333=)
|
rs13319347
|
0.00045
|
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala)
|
rs145183384
|
0.00045
|
NM_173689.7(CRB2):c.2547C>T (p.Pro849=)
|
rs201242880
|
0.00045
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
NM_001083116.3(PRF1):c.368G>A (p.Arg123His)
|
rs139336186
|
0.00044
|
NM_001308093.3(GATA4):c.348C>T (p.Ser116=)
|
rs772532276
|
0.00044
|
NM_002087.4(GRN):c.903G>A (p.Ser301=)
|
rs63750142
|
0.00044
|
NM_003611.3(OFD1):c.1654+9C>T
|
rs200007045
|
0.00044
|
NM_014314.4(RIGI):c.9C>T (p.Thr3=)
|
rs142058831
|
0.00044
|
NM_015922.3(NSDHL):c.678C>T (p.Phe226=)
|
rs147293409
|
0.00044
|
NM_024101.7(MLPH):c.487G>A (p.Asp163Asn)
|
rs3751108
|
0.00044
|
NM_145239.3(PRRT2):c.439G>C (p.Asp147His)
|
rs79568162
|
0.00044
|
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)
|
rs138215926
|
0.00044
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
NM_000538.4(RFXAP):c.666A>G (p.Ala222=)
|
rs139675642
|
0.00043
|
NM_001037.5(SCN1B):c.448+314C>A
|
rs373295182
|
0.00043
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp)
|
rs150355046
|
0.00043
|
NM_001572.5(IRF7):c.392G>A (p.Arg131Gln)
|
rs201036875
|
0.00043
|
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr)
|
rs144710810
|
0.00043
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
NM_004715.5(CTDP1):c.668C>T (p.Thr223Met)
|
rs149796311
|
0.00043
|
NM_006412.4(AGPAT2):c.589-2A>G
|
rs116807569
|
0.00043
|
NM_014365.3(HSPB8):c.432-16C>T
|
rs183447670
|
0.00043
|
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)
|
rs142482143
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=)
|
rs201122718
|
0.00042
|
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)
|
rs146781484
|
0.00042
|
NM_007294.4(BRCA1):c.-20+11C>T
|
rs273898672
|
0.00042
|
NM_153240.5(NPHP3):c.393+18C>T
|
rs367765709
|
0.00042
|
NM_000116.5(TAFAZZIN):c.542-20C>T
|
rs373841640
|
0.00041
|
NM_000213.5(ITGB4):c.1749C>T (p.Ile583=)
|
rs144302042
|
0.00041
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)
|
rs200703321
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)
|
rs199550149
|
0.00041
|
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=)
|
rs139298853
|
0.00041
|
NM_001374736.1(DST):c.4638+7A>T
|
rs185349093
|
0.00041
|
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)
|
rs150815925
|
0.00041
|
NM_002471.4(MYH6):c.643-5C>T
|
rs199859986
|
0.00041
|
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=)
|
rs34089426
|
0.00041
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
NM_005245.4(FAT1):c.10194C>T (p.Leu3398=)
|
rs373756658
|
0.00041
|
NM_005546.4(ITK):c.1455C>T (p.Ala485=)
|
rs201568204
|
0.00041
|
NM_005660.3(SLC35A2):c.30C>G (p.Thr10=)
|
rs373480204
|
0.00041
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu)
|
rs112709561
|
0.00041
|
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=)
|
rs749686245
|
0.00041
|
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
|
rs150587582
|
0.00041
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00041
|
NM_000093.5(COL5A1):c.126C>T (p.Leu42=)
|
rs149369116
|
0.00040
|
NM_000238.4(KCNH2):c.2965+14C>T
|
rs201706355
|
0.00040
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg)
|
rs199959360
|
0.00040
|
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=)
|
rs200246820
|
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_017617.5(NOTCH1):c.3644-4G>A
|
rs376161552
|
0.00040
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)
|
rs760039339
|
0.00040
|
NM_052813.5(CARD9):c.12C>T (p.Tyr4=)
|
rs35051231
|
0.00040
|
NM_000059.4(BRCA2):c.516+54T>C
|
rs368799999
|
0.00039
|
NM_000433.4(NCF2):c.93C>T (p.Ala31=)
|
rs143889676
|
0.00039
|
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)
|
rs143141578
|
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_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)
|
rs183103554
|
0.00039
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
NM_004408.4(DNM1):c.1707C>T (p.Asn569=)
|
rs145318071
|
0.00039
|
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)
|
rs139654605
|
0.00039
|
NM_014141.6(CNTNAP2):c.1777+13T>G
|
rs188140291
|
0.00039
|
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)
|
rs142020270
|
0.00039
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
NM_024921.4(POF1B):c.85C>A (p.His29Asn)
|
rs145288396
|
0.00039
|
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=)
|
rs139532029
|
0.00039
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
NM_000186.4(CFH):c.245-8C>T
|
rs537160602
|
0.00038
|
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=)
|
rs144351014
|
0.00038
|
NM_000238.4(KCNH2):c.1128+1865C>T
|
rs200324802
|
0.00038
|
NM_000302.4(PLOD1):c.1756-13C>T
|
rs370882934
|
0.00038
|
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu)
|
rs141776597
|
0.00038
|
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His)
|
rs772352938
|
0.00038
|
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)
|
rs201374999
|
0.00038
|
NM_003640.5(ELP1):c.1911T>C (p.Val637=)
|
rs369645371
|
0.00038
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_020919.4(ALS2):c.1641G>A (p.Arg547=)
|
rs34122078
|
0.00038
|
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)
|
rs141016088
|
0.00038
|
NM_032634.4(PIGO):c.655+7A>C
|
rs118002220
|
0.00038
|
NM_080911.3(UNG):c.183G>A (p.Pro61=)
|
rs147490205
|
0.00038
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
NM_000098.3(CPT2):c.1602G>A (p.Glu534=)
|
rs148110518
|
0.00037
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_000593.6(TAP1):c.1927C>T (p.Leu643=)
|
rs41559815
|
0.00037
|
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)
|
rs140662778
|
0.00037
|
NM_001079.4(ZAP70):c.1656C>T (p.Ile552=)
|
rs150096962
|
0.00037
|
NM_001287.6(CLCN7):c.1883+7C>T
|
rs372691390
|
0.00037
|
NM_001349253.2(SCN11A):c.268-3C>T
|
rs200598776
|
0.00037
|
NM_018648.4(NOP10):c.55-9C>T
|
rs72720799
|
0.00037
|
NM_032578.4(MYPN):c.1662A>C (p.Ala554=)
|
rs71584488
|
0.00037
|
NM_138295.5(PKD1L1):c.3845T>A (p.Val1282Glu)
|
rs138130715
|
0.00037
|
NM_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
0.00036
|
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=)
|
rs375384742
|
0.00036
|
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)
|
rs104895260
|
0.00036
|
NM_001148.6(ANK2):c.2727T>A (p.Thr909=)
|
rs144548535
|
0.00036
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_001364905.1(LRBA):c.3009T>A (p.Ser1003=)
|
rs149919062
|
0.00036
|
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)
|
rs192499639
|
0.00036
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_003359.4(UGDH):c.792G>A (p.Lys264=)
|
rs116145557
|
0.00036
|
NM_004006.3(DMD):c.3163-18T>C
|
rs72468662
|
0.00036
|
NM_006267.5(RANBP2):c.3350C>T (p.Ser1117Leu)
|
rs137976808
|
0.00036
|
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile)
|
rs201881288
|
0.00036
|
NM_020774.4(MIB1):c.736T>C (p.Leu246=)
|
rs188600853
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_145725.3(TRAF3):c.1194C>T (p.Arg398=)
|
rs151258452
|
0.00036
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
NM_182961.4(SYNE1):c.15657+5T>A
|
rs199779021
|
0.00036
|
NM_198994.3(TGM6):c.555C>T (p.Asp185=)
|
rs144101264
|
0.00036
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_000229.2(LCAT):c.597C>T (p.Val199=)
|
rs5922
|
0.00035
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
NM_000834.5(GRIN2B):c.3807A>T (p.Pro1269=)
|
rs78765966
|
0.00035
|
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)
|
rs201991587
|
0.00035
|
NM_001081.4(CUBN):c.5196C>T (p.Thr1732=)
|
rs182162293
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
NM_002470.4(MYH3):c.3729+9C>T
|
rs201955505
|
0.00035
|
NM_002578.5(PAK3):c.277-1193G>A
|
rs200670003
|
0.00035
|
NM_002764.4(PRPS1):c.573G>A (p.Leu191=)
|
rs770518315
|
0.00035
|
NM_004006.3(DMD):c.1095A>C (p.Gln365His)
|
rs1800266
|
0.00035
|
NM_004463.3(FGD1):c.2043C>T (p.Val681=)
|
rs144902747
|
0.00035
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter)
|
rs121908002
|
0.00035
|
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)
|
rs148791216
|
0.00035
|
NM_021072.4(HCN1):c.124C>T (p.Pro42Ser)
|
rs56164833
|
0.00035
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)
|
rs372065024
|
0.00035
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000454.5(SOD1):c.423T>A (p.Ala141=)
|
rs143100660
|
0.00034
|
NM_001083962.2(TCF4):c.966T>C (p.Asp322=)
|
rs142998298
|
0.00034
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001270508.2(TNFAIP3):c.2090G>A (p.Arg697Lys)
|
rs201429571
|
0.00034
|
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly)
|
rs140223281
|
0.00034
|
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)
|
rs142744204
|
0.00034
|
NM_001458.5(FLNC):c.7991-19C>T
|
rs537052947
|
0.00034
|
NM_001715.3(BLK):c.879C>T (p.His293=)
|
rs142623841
|
0.00034
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
0.00034
|
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=)
|
rs192923239
|
0.00034
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_002524.5(NRAS):c.360G>A (p.Leu120=)
|
rs143020946
|
0.00034
|
NM_002578.5(PAK3):c.1518G>A (p.Arg506=)
|
rs377693111
|
0.00034
|
NM_002972.4(SBF1):c.5370C>T (p.Tyr1790=)
|
rs184360634
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)
|
rs28935498
|
0.00034
|
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile)
|
rs140932636
|
0.00034
|
NM_007375.4(TARDBP):c.239-15G>A
|
rs200066188
|
0.00034
|
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)
|
rs201077220
|
0.00034
|
NM_017668.3(NDE1):c.948-2788A>G
|
rs118072250
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile)
|
rs201352768
|
0.00034
|
NM_032043.3(BRIP1):c.380-17T>A
|
rs200050729
|
0.00034
|
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys)
|
rs62179016
|
0.00034
|
NM_172107.4(KCNQ2):c.297-18C>T
|
rs370109710
|
0.00034
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_000268.4(NF2):c.1113C>T (p.Asn371=)
|
rs142459414
|
0.00033
|
NM_000836.4(GRIN2D):c.3628C>T (p.Pro1210Ser)
|
rs773824115
|
0.00033
|
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=)
|
rs375821223
|
0.00033
|
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala)
|
rs376205580
|
0.00033
|
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=)
|
rs143907156
|
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_014000.3(VCL):c.492T>G (p.Leu164=)
|
rs143702799
|
0.00033
|
NM_014795.4(ZEB2):c.759C>T (p.Arg253=)
|
rs150853991
|
0.00033
|
NM_018834.6(MATR3):c.1893C>T (p.Ser631=)
|
rs143527811
|
0.00033
|
NM_022436.3(ABCG5):c.27C>T (p.Pro9=)
|
rs72542428
|
0.00033
|
NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val)
|
rs140234740
|
0.00033
|
NM_000061.3(BTK):c.1701A>G (p.Glu567=)
|
rs146681416
|
0.00032
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)
|
rs147245615
|
0.00032
|
NM_001267550.2(TTN):c.72723C>G (p.Val24241=)
|
rs372701206
|
0.00032
|
NM_001270508.2(TNFAIP3):c.295+8T>C
|
rs370813134
|
0.00032
|
NM_001291303.3(FAT4):c.13206C>A (p.Gly4402=)
|
rs200101519
|
0.00032
|
NM_003042.4(SLC6A1):c.6G>A (p.Ala2=)
|
rs6343
|
0.00032
|
NM_003978.5(PSTPIP1):c.354+10G>A
|
rs370745407
|
0.00032
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_004356.4(CD81):c.288C>T (p.Thr96=)
|
rs202086417
|
0.00032
|
NM_004972.4(JAK2):c.2488C>T (p.Leu830=)
|
rs138340828
|
0.00032
|
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met)
|
rs149024147
|
0.00032
|
NM_006329.4(FBLN5):c.1341A>G (p.Pro447=)
|
rs145296787
|
0.00032
|
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu)
|
rs113890513
|
0.00032
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
NM_021072.4(HCN1):c.240C>A (p.Gly80=)
|
rs373664268
|
0.00032
|
NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg)
|
rs200751676
|
0.00032
|
NM_000501.4(ELN):c.1884C>T (p.Ala628=)
|
rs372315353
|
0.00031
|
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)
|
rs142316834
|
0.00031
|
NM_000540.3(RYR1):c.8616+7G>A
|
rs200023171
|
0.00031
|
NM_000587.4(C7):c.2350+2T>C
|
rs201240159
|
0.00031
|
NM_001079872.2(CUL4B):c.792C>T (p.Ser264=)
|
rs201566181
|
0.00031
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=)
|
rs554167951
|
0.00031
|
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=)
|
rs143161930
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00031
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
NM_002163.4(IRF8):c.982T>G (p.Phe328Val)
|
rs202046728
|
0.00031
|
NM_002335.4(LRP5):c.675C>T (p.Asp225=)
|
rs138207107
|
0.00031
|
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)
|
rs150450178
|
0.00031
|
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)
|
rs200018416
|
0.00031
|
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)
|
rs150821246
|
0.00031
|
NM_005068.3(SIM1):c.1569T>C (p.His523=)
|
rs138590764
|
0.00031
|
NM_006231.4(POLE):c.5173+17A>G
|
rs368209692
|
0.00031
|
NM_006904.7(PRKDC):c.42G>A (p.Arg14=)
|
rs564283387
|
0.00031
|
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
|
rs142951316
|
0.00031
|
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=)
|
rs200848754
|
0.00031
|
NM_015158.5(KANK1):c.565G>A (p.Gly189Ser)
|
rs200751333
|
0.00031
|
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe)
|
rs150765660
|
0.00031
|
NM_053025.4(MYLK):c.711C>T (p.Asn237=)
|
rs149407805
|
0.00031
|
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
|
rs143578863
|
0.00031
|
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu)
|
rs147293913
|
0.00031
|
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=)
|
rs201962241
|
0.00030
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_000258.3(MYL3):c.482-17C>T
|
rs201289145
|
0.00030
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00030
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
NM_001267550.2(TTN):c.94863C>T (p.His31621=)
|
rs373871146
|
0.00030
|
NM_002473.6(MYH9):c.4902C>T (p.Asp1634=)
|
rs146184921
|
0.00030
|
NM_002691.4(POLD1):c.714G>A (p.Thr238=)
|
rs149096523
|
0.00030
|
NM_003280.3(TNNC1):c.108C>A (p.Ile36=)
|
rs202000367
|
0.00030
|
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=)
|
rs374347802
|
0.00030
|
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His)
|
rs55679475
|
0.00029
|
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)
|
rs55771831
|
0.00029
|
NM_000335.5(SCN5A):c.3837+17G>A
|
rs45466091
|
0.00029
|
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)
|
rs121918731
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_001009944.3(PKD1):c.10221-14C>T
|
rs201207354
|
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_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=)
|
rs201458268
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
NM_003482.4(KMT2D):c.14202C>T (p.Asp4734=)
|
rs200979074
|
0.00029
|
NM_004972.4(JAK2):c.1686C>T (p.Gly562=)
|
rs143997706
|
0.00029
|
NM_007078.3(LDB3):c.1035C>T (p.Ile345=)
|
rs121908336
|
0.00029
|
NM_014476.6(PDLIM3):c.195G>A (p.Ala65=)
|
rs148570356
|
0.00029
|
NM_015631.6(TCTN3):c.889-8G>A
|
rs374331871
|
0.00029
|
NM_017553.3(INO80):c.1833C>T (p.Phe611=)
|
rs147454171
|
0.00029
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
NM_024649.5(BBS1):c.1695+10G>A
|
rs200276861
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_080473.5(GATA5):c.678C>T (p.Leu226=)
|
rs139428354
|
0.00029
|
NM_199242.3(UNC13D):c.2830+7G>A
|
rs201023196
|
0.00029
|
NM_000039.3(APOA1):c.327G>A (p.Glu109=)
|
rs113733249
|
0.00028
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_000156.6(GAMT):c.279C>T (p.Asp93=)
|
rs144630886
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
NM_001110792.2(MECP2):c.813C>T (p.Ala271=)
|
rs1042870
|
0.00028
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_001267550.2(TTN):c.75762G>T (p.Val25254=)
|
rs374003257
|
0.00028
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp)
|
rs151094883
|
0.00028
|
NM_053025.4(MYLK):c.5114+8G>A
|
rs202229368
|
0.00028
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)
|
rs199875457
|
0.00027
|
NM_000359.3(TGM1):c.877-2A>G
|
rs142634031
|
0.00027
|
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val)
|
rs371580333
|
0.00027
|
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=)
|
rs147894075
|
0.00027
|
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=)
|
rs143587921
|
0.00027
|
NM_001242896.3(DEPDC5):c.363+6_363+7del
|
rs748242785
|
0.00027
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00027
|
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)
|
rs201458257
|
0.00027
|
NM_001394477.1(FCGR2B):c.646+7G>A
|
rs377291694
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)
|
rs199798029
|
0.00027
|
NM_007118.4(TRIO):c.7397C>T (p.Pro2466Leu)
|
rs373471708
|
0.00027
|
NM_000059.4(BRCA2):c.516+14C>T
|
rs182828913
|
0.00026
|
NM_000064.4(C3):c.4635C>T (p.Tyr1545=)
|
rs189948635
|
0.00026
|
NM_000214.3(JAG1):c.414G>A (p.Ala138=)
|
rs371682149
|
0.00026
|
NM_000215.4(JAK3):c.2235G>A (p.Pro745=)
|
rs149207170
|
0.00026
|
NM_000379.4(XDH):c.704C>T (p.Thr235Met)
|
rs45469499
|
0.00026
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
NM_001035.3(RYR2):c.14757-19A>G
|
rs190533014
|
0.00026
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)
|
rs374081262
|
0.00026
|
NM_001378615.1(CC2D2A):c.4675-15G>A
|
rs377573053
|
0.00026
|
NM_001458.5(FLNC):c.5367C>T (p.Ile1789=)
|
rs377214486
|
0.00026
|
NM_001999.4(FBN2):c.1850-9C>T
|
rs199937209
|
0.00026
|
NM_002227.4(JAK1):c.3258+7C>T
|
rs371900175
|
0.00026
|
NM_003153.5(STAT6):c.135C>T (p.Ser45=)
|
rs141476151
|
0.00026
|
NM_003331.5(TYK2):c.2670G>C (p.Thr890=)
|
rs144332908
|
0.00026
|
NM_004260.4(RECQL4):c.3495C>T (p.His1165=)
|
rs202083938
|
0.00026
|
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=)
|
rs368321891
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=)
|
rs202231073
|
0.00026
|
NM_017617.5(NOTCH1):c.5638+19A>G
|
rs368675083
|
0.00026
|
NM_020774.4(MIB1):c.1830-18T>C
|
rs201761957
|
0.00026
|
NM_020919.4(ALS2):c.1677A>G (p.Lys559=)
|
rs367640165
|
0.00026
|
NM_024009.3(GJB3):c.264G>A (p.Ser88=)
|
rs201469743
|
0.00026
|
NM_139058.3(ARX):c.1515A>G (p.Thr505=)
|
rs398124509
|
0.00026
|
NM_152296.5(ATP1A3):c.1192+6C>T
|
rs367771319
|
0.00026
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)
|
rs150670521
|
0.00025
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_000384.3(APOB):c.2817-19T>G
|
rs72653069
|
0.00025
|
NM_000431.4(MVK):c.876C>T (p.Leu292=)
|
rs370301290
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)
|
rs180177501
|
0.00025
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00025
|
NM_001711.6(BGN):c.351+6G>A
|
rs370838225
|
0.00025
|
NM_002661.5(PLCG2):c.1160A>C (p.Gln387Pro)
|
rs201654184
|
0.00025
|
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly)
|
rs200771233
|
0.00025
|
NM_004006.3(DMD):c.9225-5795G>A
|
rs138287985
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_018706.7(DHTKD1):c.33G>A (p.Arg11=)
|
rs199768968
|
0.00025
|
NM_025074.7(FRAS1):c.3065A>C (p.Lys1022Thr)
|
rs201252328
|
0.00025
|
NM_053025.4(MYLK):c.2253C>T (p.Thr751=)
|
rs138777049
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000383.4(AIRE):c.1344C>T (p.His448=)
|
rs201131119
|
0.00024
|
NM_001009944.3(PKD1):c.6882C>T (p.Leu2294=)
|
rs758337073
|
0.00024
|
NM_001013838.3(CARMIL2):c.810G>A (p.Ala270=)
|
rs368850534
|
0.00024
|
NM_001035.3(RYR2):c.10554+16T>C
|
rs370288739
|
0.00024
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr)
|
rs1052515747
|
0.00024
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
NM_001261826.3(AP3D1):c.2892G>A (p.Ala964=)
|
rs367708267
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.35875+8T>G
|
rs192408585
|
0.00024
|
NM_001267550.2(TTN):c.37120+16G>A
|
rs1392731996
|
0.00024
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
NM_001375808.2(LPIN2):c.1168+6C>T
|
rs200130790
|
0.00024
|
NM_001378156.1(C1QB):c.426C>T (p.His142=)
|
rs376737563
|
0.00024
|
NM_001558.4(IL10RA):c.883C>T (p.Pro295Ser)
|
rs201777547
|
0.00024
|
NM_002294.3(LAMP2):c.741+11C>T
|
rs149155417
|
0.00024
|
NM_002471.4(MYH6):c.2685+10C>T
|
rs202155137
|
0.00024
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys)
|
rs117749531
|
0.00024
|
NM_004484.4(GPC3):c.876T>C (p.Ile292=)
|
rs61754633
|
0.00024
|
NM_004667.6(HERC2):c.10021C>T (p.Gln3341Ter)
|
rs371406398
|
0.00024
|
NM_004963.4(GUCY2C):c.138C>T (p.Ala46=)
|
rs373943895
|
0.00024
|
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=)
|
rs371930288
|
0.00024
|
NM_005609.4(PYGM):c.729C>T (p.Arg243=)
|
rs151160016
|
0.00024
|
NM_006949.4(STXBP2):c.1247-1G>C
|
rs140148806
|
0.00024
|
NM_007074.4(CORO1A):c.1146T>C (p.Gly382=)
|
rs201734831
|
0.00024
|
NM_007294.4(BRCA1):c.5075-107A>G
|
rs560197308
|
0.00024
|
NM_007294.4(BRCA1):c.528G>A (p.Thr176=)
|
rs34545365
|
0.00024
|
NM_007315.4(STAT1):c.1248C>G (p.Gly416=)
|
rs140787216
|
0.00024
|
NM_013275.6(ANKRD11):c.2373G>A (p.Lys791=)
|
rs138267414
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_015991.4(C1QA):c.581A>C (p.Asn194Thr)
|
rs201816009
|
0.00024
|
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=)
|
rs145688699
|
0.00024
|
NM_020458.4(TTC7A):c.1449G>A (p.Gly483=)
|
rs142810509
|
0.00024
|
NM_024422.6(DSC2):c.1520+8C>G
|
rs372979057
|
0.00024
|
NM_030653.4(DDX11):c.1763-1G>C
|
rs148856317
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
|
rs372150992
|
0.00024
|
NM_171998.4(RAB39B):c.543A>G (p.Thr181=)
|
rs369970931
|
0.00024
|
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser)
|
rs144756946
|
0.00024
|
NM_000206.3(IL2RG):c.78A>T (p.Thr26=)
|
rs147424359
|
0.00023
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu)
|
rs137853319
|
0.00023
|
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)
|
rs200524526
|
0.00023
|
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=)
|
rs572036869
|
0.00023
|
NM_001145252.3(CFP):c.663C>T (p.Ser221=)
|
rs367635632
|
0.00023
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)
|
rs202032875
|
0.00023
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_002661.5(PLCG2):c.2658G>A (p.Val886=)
|
rs549242688
|
0.00023
|
NM_003611.3(OFD1):c.2260+12G>A
|
rs375507459
|
0.00023
|
NM_004006.3(DMD):c.2386G>A (p.Val796Ile)
|
rs139726281
|
0.00023
|
NM_004946.3(DOCK2):c.1896G>A (p.Glu632=)
|
rs771194180
|
0.00023
|
NM_005051.3(QARS1):c.1388+7G>A
|
rs201234869
|
0.00023
|
NM_005245.4(FAT1):c.13158A>C (p.Ser4386=)
|
rs201618936
|
0.00023
|
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=)
|
rs376385129
|
0.00023
|
NM_005911.6(MAT2A):c.831T>C (p.His277=)
|
rs144914741
|
0.00023
|
NM_080646.2(TBX1):c.1095A>G (p.Ala365=)
|
rs147647675
|
0.00023
|
NM_152296.5(ATP1A3):c.1193-4C>G
|
rs200111818
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_000062.3(SERPING1):c.686-5C>G
|
rs28362952
|
0.00022
|
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)
|
rs76649554
|
0.00022
|
NM_000243.3(MEFV):c.1760-28T>A
|
rs104895169
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000487.6(ARSA):c.982G>A (p.Val328Met)
|
rs143994992
|
0.00022
|
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=)
|
rs149106800
|
0.00022
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=)
|
rs368449473
|
0.00022
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=)
|
rs372158844
|
0.00022
|
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)
|
rs201827489
|
0.00022
|
NM_006393.3(NEBL):c.2964C>T (p.Asp988=)
|
rs144946187
|
0.00022
|
NM_014467.3(SRPX2):c.693C>A (p.His231Gln)
|
rs142719253
|
0.00022
|
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe)
|
rs201109457
|
0.00022
|
NM_017777.4(MKS1):c.644+8G>T
|
rs370117125
|
0.00022
|
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)
|
rs147948835
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_025099.6(CTC1):c.3515-10C>T
|
rs200225342
|
0.00022
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_153460.4(IL17RC):c.909C>T (p.Ala303=)
|
rs370054868
|
0.00022
|
NM_000081.4(LYST):c.4006+8G>A
|
rs369153654
|
0.00021
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_000548.5(TSC2):c.2427C>T (p.Ser809=)
|
rs182849638
|
0.00021
|
NM_001035.3(RYR2):c.1005+13A>G
|
rs552027921
|
0.00021
|
NM_001037.5(SCN1B):c.348G>A (p.Ser116=)
|
rs375050816
|
0.00021
|
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=)
|
rs61751442
|
0.00021
|
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=)
|
rs200471732
|
0.00021
|
NM_001267550.2(TTN):c.101055T>C (p.Asp33685=)
|
rs372788551
|
0.00021
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)
|
rs372065796
|
0.00021
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
NM_001365276.2(TNXB):c.1671C>T (p.Arg557=)
|
rs367731133
|
0.00021
|
NM_001369369.1(FOXN1):c.1932C>T (p.Pro644=)
|
rs199499942
|
0.00021
|
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)
|
rs145293873
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_002972.4(SBF1):c.3294G>A (p.Glu1098=)
|
rs373108686
|
0.00021
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
NM_006846.4(SPINK5):c.2419T>G (p.Cys807Gly)
|
rs201815688
|
0.00021
|
NM_014425.5(INVS):c.67G>A (p.Val23Ile)
|
rs145303373
|
0.00021
|
NM_017553.3(INO80):c.159T>C (p.Asp53=)
|
rs147465346
|
0.00021
|
NM_017617.5(NOTCH1):c.2970-9C>T
|
rs568052902
|
0.00021
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_021167.5(GATAD1):c.48G>A (p.Ser16=)
|
rs376686657
|
0.00021
|
NM_138295.5(PKD1L1):c.7795A>G (p.Met2599Val)
|
rs140233929
|
0.00021
|
NM_139058.3(ARX):c.558G>T (p.Pro186=)
|
rs748764628
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu)
|
rs149979176
|
0.00021
|
NR_028089.1(NXF5):n.775A>G
|
rs141000813
|
0.00021
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
NM_000393.5(COL5A2):c.2338-6T>C
|
rs375291199
|
0.00020
|
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln)
|
rs143413618
|
0.00020
|
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=)
|
rs144673752
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00020
|
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe)
|
rs374462247
|
0.00020
|
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile)
|
rs200731839
|
0.00020
|
NM_001386795.1(DTNA):c.126G>A (p.Arg42=)
|
rs376001633
|
0.00020
|
NM_004356.4(CD81):c.126C>G (p.Thr42=)
|
rs370819047
|
0.00020
|
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu)
|
rs143227399
|
0.00020
|
NM_015967.8(PTPN22):c.1701G>A (p.Leu567=)
|
rs190093444
|
0.00020
|
NM_021625.5(TRPV4):c.1584+13C>T
|
rs199712027
|
0.00020
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_053025.4(MYLK):c.1310-20T>C
|
rs375101899
|
0.00020
|
NM_144997.7(FLCN):c.396+4A>G
|
rs370353839
|
0.00020
|
NM_152424.4(AMER1):c.790G>A (p.Ala264Thr)
|
rs150929706
|
0.00020
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His)
|
rs372628478
|
0.00019
|
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)
|
rs566157997
|
0.00019
|
NM_001105206.3(LAMA4):c.668G>A (p.Arg223His)
|
rs200017155
|
0.00019
|
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=)
|
rs797045630
|
0.00019
|
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)
|
rs749357610
|
0.00019
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=)
|
rs148210834
|
0.00019
|
NM_001271.4(CHD2):c.4278+5T>C
|
rs202174434
|
0.00019
|
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=)
|
rs200698497
|
0.00019
|
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)
|
rs200826539
|
0.00019
|
NM_001386795.1(DTNA):c.1918T>C (p.Leu640=)
|
rs372620035
|
0.00019
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
NM_002471.4(MYH6):c.2841C>T (p.Asp947=)
|
rs140305424
|
0.00019
|
NM_003482.4(KMT2D):c.8068C>T (p.Leu2690=)
|
rs370846697
|
0.00019
|
NM_003737.4(DCHS1):c.4553G>A (p.Arg1518Gln)
|
rs753287108
|
0.00019
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
NM_004484.4(GPC3):c.889A>G (p.Arg297Gly)
|
rs148951753
|
0.00019
|
NM_004595.5(SMS):c.171C>T (p.Ser57=)
|
rs201558273
|
0.00019
|
NM_004715.5(CTDP1):c.351G>A (p.Pro117=)
|
rs139441883
|
0.00019
|
NM_004985.5(KRAS):c.451-5535A>C
|
rs201170656
|
0.00019
|
NM_004991.4(MECOM):c.180G>A (p.Glu60=)
|
rs188488402
|
0.00019
|
NM_005957.5(MTHFR):c.870C>T (p.Asn290=)
|
rs141769179
|
0.00019
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
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_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe)
|
rs373847965
|
0.00019
|
NM_015102.5(NPHP4):c.1120-13G>T
|
rs192450719
|
0.00019
|
NM_015450.3(POT1):c.64A>G (p.Ile22Val)
|
rs375440229
|
0.00019
|
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)
|
rs397517263
|
0.00019
|
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=)
|
rs374488772
|
0.00019
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)
|
rs201084185
|
0.00019
|
NM_030930.4(UNC93B1):c.1449C>T (p.Phe483=)
|
rs371738908
|
0.00019
|
NM_145239.3(PRRT2):c.225G>A (p.Pro75=)
|
rs199662641
|
0.00019
|
NM_178170.3(NEK8):c.294C>G (p.Ser98=)
|
rs140255077
|
0.00019
|
NM_198282.4(STING1):c.575G>T (p.Gly192Val)
|
rs201096097
|
0.00019
|
NM_000238.4(KCNH2):c.1128+1811G>A
|
rs41313083
|
0.00018
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00018
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
NM_001009944.3(PKD1):c.10168-8C>T
|
rs199808929
|
0.00018
|
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)
|
rs121909379
|
0.00018
|
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=)
|
rs143516811
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_001365536.1(SCN9A):c.2344-20A>T
|
rs199905079
|
0.00018
|
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp)
|
rs139467141
|
0.00018
|
NM_001371415.1(ACE2):c.1840G>T (p.Ala614Ser)
|
rs201715513
|
0.00018
|
NM_001458.5(FLNC):c.6720G>A (p.Gln2240=)
|
rs371391208
|
0.00018
|
NM_002230.4(JUP):c.426C>T (p.Arg142=)
|
rs142599474
|
0.00018
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_006393.3(NEBL):c.2307T>C (p.Ala769=)
|
rs144815863
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_014000.3(VCL):c.81C>T (p.His27=)
|
rs200733607
|
0.00018
|
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)
|
rs72552292
|
0.00018
|
NM_015158.5(KANK1):c.2686G>C (p.Gly896Arg)
|
rs180806437
|
0.00018
|
NM_024570.4(RNASEH2B):c.64+8C>T
|
rs957777357
|
0.00018
|
NM_207111.4(RNF216):c.2544C>T (p.Asn848=)
|
rs149012430
|
0.00018
|
NM_000169.3(GLA):c.123C>T (p.Thr41=)
|
rs137902198
|
0.00017
|
NM_000335.5(SCN5A):c.4810+24G>A
|
rs45440596
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile)
|
rs145532417
|
0.00017
|
NM_001110792.2(MECP2):c.621C>T (p.Gly207=)
|
rs61749712
|
0.00017
|
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)
|
rs55734111
|
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.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
NM_001421.4(ELF4):c.1144G>A (p.Val382Ile)
|
rs148953158
|
0.00017
|
NM_001458.5(FLNC):c.6888C>T (p.His2296=)
|
rs375259002
|
0.00017
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=)
|
rs149980738
|
0.00017
|
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)
|
rs148208753
|
0.00017
|
NM_004415.4(DSP):c.2121C>T (p.Asn707=)
|
rs368590198
|
0.00017
|
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=)
|
rs202023240
|
0.00017
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_198282.4(STING1):c.61G>A (p.Ala21Thr)
|
rs140011636
|
0.00017
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=)
|
rs529637184
|
0.00016
|
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)
|
rs104895157
|
0.00016
|
NM_000257.4(MYH7):c.3727-18C>T
|
rs369549958
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr)
|
rs375755770
|
0.00016
|
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=)
|
rs751559376
|
0.00016
|
NM_001165963.4(SCN1A):c.1378-3T>C
|
rs150964803
|
0.00016
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)
|
rs373326137
|
0.00016
|
NM_001289125.3(IFNAR2):c.1315G>A (p.Asp439Asn)
|
rs149040664
|
0.00016
|
NM_001365999.1(SZT2):c.7224C>T (p.Asn2408=)
|
rs373992628
|
0.00016
|
NM_001365999.1(SZT2):c.8316G>A (p.Thr2772=)
|
rs532810601
|
0.00016
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
NM_001458.5(FLNC):c.1923C>T (p.His641=)
|
rs375361259
|
0.00016
|
NM_001458.5(FLNC):c.4153C>T (p.Leu1385=)
|
rs202125701
|
0.00016
|
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)
|
rs148545460
|
0.00016
|
NM_001458.5(FLNC):c.96G>A (p.Ala32=)
|
rs368239688
|
0.00016
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
NM_002049.4(GATA1):c.163G>A (p.Ala55Thr)
|
rs150572851
|
0.00016
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)
|
rs587669420
|
0.00016
|
NM_004172.5(SLC1A3):c.1425-8G>C
|
rs202233020
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_005045.4(RELN):c.2376T>C (p.Gly792=)
|
rs398124191
|
0.00016
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
NM_006393.3(NEBL):c.2775C>T (p.Pro925=)
|
rs199887353
|
0.00016
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
NM_007294.4(BRCA1):c.81-65G>C
|
rs80358117
|
0.00016
|
NM_014000.3(VCL):c.1842G>A (p.Thr614=)
|
rs144117013
|
0.00016
|
NM_014476.6(PDLIM3):c.697G>C (p.Val233Leu)
|
rs143121072
|
0.00016
|
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)
|
rs374944458
|
0.00016
|
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=)
|
rs145005748
|
0.00016
|
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu)
|
rs148162797
|
0.00016
|
NM_024422.6(DSC2):c.2509-153_2509-152del
|
rs372836109
|
0.00016
|
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)
|
rs370153686
|
0.00016
|
NM_144573.4(NEXN):c.865-17A>G
|
rs201771600
|
0.00016
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)
|
rs145119918
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
NM_000059.4(BRCA2):c.517-89G>A
|
rs570584580
|
0.00015
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
0.00015
|
NM_001015877.2(PHF6):c.241-13C>T
|
rs375674521
|
0.00015
|
NM_001018005.2(TPM1):c.115-316G>A
|
rs397516491
|
0.00015
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)
|
rs375804228
|
0.00015
|
NM_001458.5(FLNC):c.3153G>A (p.Pro1051=)
|
rs373694043
|
0.00015
|
NM_001458.5(FLNC):c.7136-6C>A
|
rs368292177
|
0.00015
|
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)
|
rs181711180
|
0.00015
|
NM_002230.4(JUP):c.2086+13C>T
|
rs199935213
|
0.00015
|
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)
|
rs730880478
|
0.00015
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
NM_002471.4(MYH6):c.3732+13C>T
|
rs369889994
|
0.00015
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
NM_004006.3(DMD):c.9486G>A (p.Glu3162=)
|
rs370724251
|
0.00015
|
NM_004341.5(CAD):c.246C>T (p.His82=)
|
rs146668657
|
0.00015
|
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=)
|
rs200081632
|
0.00015
|
NM_017617.5(NOTCH1):c.2353+14G>A
|
rs140288481
|
0.00015
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
NM_000204.5(CFI):c.905-3T>C
|
rs377535161
|
0.00014
|
NM_000256.3(MYBPC3):c.654+17C>T
|
rs369864892
|
0.00014
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_001001548.3(CD36):c.1215G>A (p.Leu405=)
|
rs201929460
|
0.00014
|
NM_001018005.2(TPM1):c.114+14C>T
|
rs576659891
|
0.00014
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
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_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_001130144.3(LTBP3):c.3408C>T (p.Asp1136=)
|
rs779288121
|
0.00014
|
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)
|
rs199766569
|
0.00014
|
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=)
|
rs375625664
|
0.00014
|
NM_001330260.2(SCN8A):c.2586C>T (p.Asn862=)
|
rs377396450
|
0.00014
|
NM_001458.5(FLNC):c.6594C>T (p.Gly2198=)
|
rs754112206
|
0.00014
|
NM_002661.5(PLCG2):c.688C>T (p.Leu230=)
|
rs373962897
|
0.00014
|
NM_003238.6(TGFB2):c.347-14C>G
|
rs371982231
|
0.00014
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
|
rs185706283
|
0.00014
|
NM_004484.4(GPC3):c.172C>T (p.Pro58Ser)
|
rs147231796
|
0.00014
|
NM_005428.4(VAV1):c.927+7G>A
|
rs373764318
|
0.00014
|
NM_013275.6(ANKRD11):c.4235T>C (p.Ile1412Thr)
|
rs578198369
|
0.00014
|
NM_014874.4(MFN2):c.870C>T (p.Gly290=)
|
rs368302487
|
0.00014
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
NM_015311.3(OBSL1):c.4745G>A (p.Gly1582Glu)
|
rs201690766
|
0.00014
|
NM_017617.5(NOTCH1):c.1670-19C>T
|
rs377686947
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg)
|
rs775245244
|
0.00014
|
NM_024334.3(TMEM43):c.864C>T (p.His288=)
|
rs377585035
|
0.00014
|
NM_033004.4(NLRP1):c.2341C>A (p.Pro781Thr)
|
rs201368394
|
0.00014
|
NM_053025.4(MYLK):c.2919G>A (p.Pro973=)
|
rs149482336
|
0.00014
|
NM_152424.4(AMER1):c.1802G>A (p.Arg601Gln)
|
rs149865410
|
0.00014
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00014
|
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)
|
rs376119827
|
0.00013
|
NM_000257.4(MYH7):c.2526T>C (p.Ser842=)
|
rs554560162
|
0.00013
|
NM_000302.4(PLOD1):c.303C>T (p.Ser101=)
|
rs147980436
|
0.00013
|
NM_000384.3(APOB):c.13302C>T (p.Ser4434=)
|
rs144040999
|
0.00013
|
NM_000431.4(MVK):c.877G>A (p.Val293Met)
|
rs104895356
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)
|
rs375205247
|
0.00013
|
NM_001112741.2(KCNC1):c.683G>T (p.Arg228Leu)
|
rs200873319
|
0.00013
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=)
|
rs148085725
|
0.00013
|
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu)
|
rs141807543
|
0.00013
|
NM_001365276.2(TNXB):c.2981G>A (p.Arg994His)
|
rs372167278
|
0.00013
|
NM_001365999.1(SZT2):c.327+7G>T
|
rs201252901
|
0.00013
|
NM_001366722.1(GRIP1):c.3048T>C (p.Phe1016=)
|
rs372970620
|
0.00013
|
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)
|
rs281875281
|
0.00013
|
NM_001458.5(FLNC):c.3090C>T (p.Pro1030=)
|
rs760926290
|
0.00013
|
NM_001458.5(FLNC):c.600C>T (p.Pro200=)
|
rs202105410
|
0.00013
|
NM_001943.5(DSG2):c.148G>A (p.Ala50Thr)
|
rs1267795586
|
0.00013
|
NM_002230.4(JUP):c.1365C>T (p.Ala455=)
|
rs77375949
|
0.00013
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)
|
rs536108231
|
0.00013
|
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu)
|
rs149016283
|
0.00013
|
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)
|
rs146251034
|
0.00013
|
NM_003640.5(ELP1):c.3222+14C>T
|
rs374787755
|
0.00013
|
NM_003923.3(FOXH1):c.410G>C (p.Arg137Pro)
|
rs748316496
|
0.00013
|
NM_004006.3(DMD):c.8027+7A>T
|
rs72466580
|
0.00013
|
NM_004380.3(CREBBP):c.4280+8T>C
|
rs376814421
|
0.00013
|
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)
|
rs13447324
|
0.00013
|
NM_005912.2(MC4R):c.110A>T (p.Asp37Val)
|
rs13447325
|
0.00013
|
NM_007078.3(LDB3):c.1956C>T (p.Asp652=)
|
rs139213290
|
0.00013
|
NM_014927.5(CNKSR2):c.1677C>T (p.Ser559=)
|
rs371945192
|
0.00013
|
NM_015559.3(SETBP1):c.927C>T (p.Asn309=)
|
rs199603131
|
0.00013
|
NM_017636.4(TRPM4):c.24+6C>G
|
rs767900879
|
0.00013
|
NM_017649.5(CNNM2):c.804G>T (p.Leu268=)
|
rs148386496
|
0.00013
|
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter)
|
rs121434233
|
0.00013
|
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)
|
rs142971473
|
0.00013
|
NM_139276.3(STAT3):c.1143C>G (p.Ser381=)
|
rs143571879
|
0.00013
|
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)
|
rs141263831
|
0.00013
|
NM_000219.6(KCNE1):c.162C>T (p.Phe54=)
|
rs17173508
|
0.00012
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000257.4(MYH7):c.4953+17G>A
|
rs376604168
|
0.00012
|
NM_000384.3(APOB):c.288G>T (p.Gln96His)
|
rs186544754
|
0.00012
|
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly)
|
rs201434271
|
0.00012
|
NM_001099922.3(ALG13):c.2685C>T (p.His895=)
|
rs374572450
|
0.00012
|
NM_001106.4(ACVR2B):c.6G>C (p.Thr2=)
|
rs890359144
|
0.00012
|
NM_001111.5(ADAR):c.1935-20C>T
|
rs17843867
|
0.00012
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
NM_001148.6(ANK2):c.8903T>C (p.Val2968Ala)
|
rs751095004
|
0.00012
|
NM_001195553.2(DCX):c.429T>C (p.Asn143=)
|
rs761104151
|
0.00012
|
NM_001197104.2(KMT2A):c.4086+8G>C
|
rs200865931
|
0.00012
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His)
|
rs118079537
|
0.00012
|
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)
|
rs182845462
|
0.00012
|
NM_001458.5(FLNC):c.1608G>A (p.Glu536=)
|
rs549086803
|
0.00012
|
NM_001458.5(FLNC):c.5127C>T (p.Pro1709=)
|
rs540345016
|
0.00012
|
NM_001737.5(C9):c.1345G>A (p.Val449Met)
|
rs374259433
|
0.00012
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
NM_002335.4(LRP5):c.2175T>C (p.Val725=)
|
rs200570645
|
0.00012
|
NM_005477.3(HCN4):c.621C>G (p.Arg207=)
|
rs727503958
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_013266.4(CTNNA3):c.832G>A (p.Asp278Asn)
|
rs143693772
|
0.00012
|
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser)
|
rs200456170
|
0.00012
|
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=)
|
rs200332386
|
0.00012
|
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn)
|
rs143932873
|
0.00012
|
NM_000059.4(BRCA2):c.9256+58A>T
|
rs777427197
|
0.00011
|
NM_000081.4(LYST):c.6432A>G (p.Ser2144=)
|
rs145080654
|
0.00011
|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)
|
rs768385469
|
0.00011
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)
|
rs370676650
|
0.00011
|
NM_000229.2(LCAT):c.879C>T (p.Pro293=)
|
rs200225997
|
0.00011
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=)
|
rs35690719
|
0.00011
|
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
|
rs372970828
|
0.00011
|
NM_000383.4(AIRE):c.705G>A (p.Lys235=)
|
rs145255118
|
0.00011
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)
|
rs542692632
|
0.00011
|
NM_001009944.3(PKD1):c.3525G>A (p.Pro1175=)
|
rs375443604
|
0.00011
|
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=)
|
rs146363575
|
0.00011
|
NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu)
|
rs368800243
|
0.00011
|
NM_001032382.2(PQBP1):c.585C>T (p.Ser195=)
|
rs149688357
|
0.00011
|
NM_001103.4(ACTN2):c.1974+10C>T
|
rs368354944
|
0.00011
|
NM_001110556.2(FLNA):c.1828+3A>G
|
rs368041880
|
0.00011
|
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)
|
rs150046661
|
0.00011
|
NM_001130438.3(SPTAN1):c.5044-4C>T
|
rs749484552
|
0.00011
|
NM_001134363.3(RBM20):c.1275+8G>T
|
rs727505318
|
0.00011
|
NM_001148.6(ANK2):c.4287A>G (p.Ser1429=)
|
rs72556369
|
0.00011
|
NM_001191061.2(SLC25A22):c.834C>T (p.His278=)
|
rs187824231
|
0.00011
|
NM_001232.4(CASQ2):c.540G>A (p.Lys180=)
|
rs72554057
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.22091G>A (p.Arg7364Gln)
|
rs200128066
|
0.00011
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)
|
rs773035917
|
0.00011
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys)
|
rs185887755
|
0.00011
|
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)
|
rs372611171
|
0.00011
|
NM_001291867.2(NHS):c.566-5T>C
|
rs760065199
|
0.00011
|
NM_001372044.2(SHANK3):c.3959C>T (p.Ala1320Val)
|
rs552332994
|
0.00011
|
NM_001375808.2(LPIN2):c.1169-3C>T
|
rs200259086
|
0.00011
|
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His)
|
rs142108185
|
0.00011
|
NM_001458.5(FLNC):c.6387C>T (p.Thr2129=)
|
rs200182180
|
0.00011
|
NM_001735.3(C5):c.2420C>T (p.Thr807Ile)
|
rs372326645
|
0.00011
|
NM_001845.6(COL4A1):c.2316C>T (p.Ile772=)
|
rs377593990
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_002471.4(MYH6):c.1410C>T (p.Asp470=)
|
rs139886074
|
0.00011
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
NM_002800.5(PSMB9):c.377G>A (p.Arg126His)
|
rs56239515
|
0.00011
|
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)
|
rs11568372
|
0.00011
|
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
|
rs74315511
|
0.00011
|
NM_005585.5(SMAD6):c.75C>T (p.Gly25=)
|
rs755856670
|
0.00011
|
NM_006015.6(ARID1A):c.5636G>A (p.Arg1879Gln)
|
rs371595717
|
0.00011
|
NM_006790.3(MYOT):c.594G>A (p.Val198=)
|
rs372287923
|
0.00011
|
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)
|
rs41286292
|
0.00011
|
NM_007294.4(BRCA1):c.441+18C>T
|
rs371973519
|
0.00011
|
NM_012464.5(TLL1):c.809C>G (p.Pro270Arg)
|
rs560690746
|
0.00011
|
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln)
|
rs369033938
|
0.00011
|
NM_013266.4(CTNNA3):c.1732+8A>G
|
rs372686443
|
0.00011
|
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser)
|
rs773172347
|
0.00011
|
NM_014476.6(PDLIM3):c.246G>A (p.Arg82=)
|
rs200354645
|
0.00011
|
NM_015909.4(NBAS):c.4968C>T (p.Asp1656=)
|
rs542221151
|
0.00011
|
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg)
|
rs377646143
|
0.00011
|
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=)
|
rs370471177
|
0.00011
|
NM_021830.5(TWNK):c.169G>A (p.Ala57Thr)
|
rs373068264
|
0.00011
|
NM_022114.4(PRDM16):c.1719G>A (p.Ala573=)
|
rs374254884
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_025132.4(WDR19):c.3615C>T (p.Gly1205=)
|
rs202102903
|
0.00011
|
NM_032977.4(CASP10):c.347+10G>T
|
rs377184631
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)
|
rs114929884
|
0.00011
|
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile)
|
rs199670962
|
0.00011
|
NM_000059.4(BRCA2):c.6937+74C>G
|
rs971938860
|
0.00010
|
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu)
|
rs149912828
|
0.00010
|
NM_000214.3(JAG1):c.1608C>T (p.Asn536=)
|
rs200648453
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000335.5(SCN5A):c.1338+20G>A
|
rs45626543
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000355.4(TCN2):c.921A>C (p.Pro307=)
|
rs138738105
|
0.00010
|
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu)
|
rs202237214
|
0.00010
|
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)
|
rs201633414
|
0.00010
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00010
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
NM_000501.4(ELN):c.1149C>T (p.Tyr383=)
|
rs199621188
|
0.00010
|
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)
|
rs199606152
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000562.3(C8A):c.1657G>A (p.Ala553Thr)
|
rs375719279
|
0.00010
|
NM_000834.5(GRIN2B):c.2172-6G>A
|
rs201390691
|
0.00010
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)
|
rs151039810
|
0.00010
|
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys)
|
rs148189507
|
0.00010
|
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=)
|
rs374481199
|
0.00010
|
NM_001159699.2(FHL1):c.737-11_737-8del
|
rs754404850
|
0.00010
|
NM_001159699.2(FHL1):c.737-18del
|
rs776759929
|
0.00010
|
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)
|
rs199887745
|
0.00010
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)
|
rs372633280
|
0.00010
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
NM_001330588.2(TPP2):c.2591A>G (p.Lys864Arg)
|
rs770781368
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met)
|
rs201071018
|
0.00010
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)
|
rs199761749
|
0.00010
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln)
|
rs727503239
|
0.00010
|
NM_002661.5(PLCG2):c.2898C>T (p.Ile966=)
|
rs61749046
|
0.00010
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)
|
rs199599147
|
0.00010
|
NM_004006.3(DMD):c.4877T>A (p.Val1626Glu)
|
rs72468634
|
0.00010
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
NM_005045.4(RELN):c.5274G>T (p.Ala1758=)
|
rs139102992
|
0.00010
|
NM_005548.3(KARS1):c.222+10C>T
|
rs374496494
|
0.00010
|
NM_006892.4(DNMT3B):c.2055G>A (p.Lys685=)
|
rs144497819
|
0.00010
|
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp)
|
rs151325121
|
0.00010
|
NM_014391.3(ANKRD1):c.750+17G>A
|
rs373898620
|
0.00010
|
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)
|
rs143763650
|
0.00010
|
NM_017617.5(NOTCH1):c.2740+14C>T
|
rs375880798
|
0.00010
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_025103.4(IFT74):c.968A>G (p.Glu323Gly)
|
rs202139740
|
0.00010
|
NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys)
|
rs375450242
|
0.00010
|
NM_033337.3(CAV3):c.168C>T (p.Gly56=)
|
rs116840774
|
0.00010
|
NM_053025.4(MYLK):c.1133G>A (p.Arg378His)
|
rs56378658
|
0.00010
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000093.5(COL5A1):c.3691-9T>C
|
rs187584029
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=)
|
rs777418402
|
0.00009
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
NM_000285.4(PEPD):c.183C>T (p.Thr61=)
|
rs560782839
|
0.00009
|
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=)
|
rs201999965
|
0.00009
|
NM_000335.5(SCN5A):c.885G>A (p.Glu295=)
|
rs373342830
|
0.00009
|
NM_000337.6(SGCD):c.717G>A (p.Ala239=)
|
rs145430692
|
0.00009
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
NM_000431.4(MVK):c.591C>T (p.His197=)
|
rs104895329
|
0.00009
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
NM_000639.3(FASLG):c.177G>A (p.Pro59=)
|
rs559795993
|
0.00009
|
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu)
|
rs201682618
|
0.00009
|
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln)
|
rs200684767
|
0.00009
|
NM_001008537.3(NEXMIF):c.4422G>A (p.Lys1474=)
|
rs371190782
|
0.00009
|
NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=)
|
rs778410054
|
0.00009
|
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)
|
rs782557713
|
0.00009
|
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile)
|
rs61753966
|
0.00009
|
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)
|
rs759377924
|
0.00009
|
NM_001134363.3(RBM20):c.3451+14A>G
|
rs774391134
|
0.00009
|
NM_001267550.2(TTN):c.1245+20G>T
|
rs371234481
|
0.00009
|
NM_001267550.2(TTN):c.2061A>G (p.Gln687=)
|
rs188680791
|
0.00009
|
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=)
|
rs369128249
|
0.00009
|
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)
|
rs573218266
|
0.00009
|
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)
|
rs370450339
|
0.00009
|
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His)
|
rs764254441
|
0.00009
|
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val)
|
rs142391957
|
0.00009
|
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=)
|
rs145815177
|
0.00009
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=)
|
rs150934088
|
0.00009
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
NM_001458.5(FLNC):c.2292C>T (p.Pro764=)
|
rs369916201
|
0.00009
|
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met)
|
rs772580545
|
0.00009
|
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys)
|
rs752321157
|
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_002471.4(MYH6):c.4833C>T (p.Asn1611=)
|
rs139329956
|
0.00009
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
NM_003239.5(TGFB3):c.558C>T (p.Ile186=)
|
rs138389291
|
0.00009
|
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile)
|
rs149201422
|
0.00009
|
NM_004006.3(DMD):c.8027+13T>G
|
rs772027445
|
0.00009
|
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)
|
rs387906881
|
0.00009
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
NM_004715.5(CTDP1):c.753G>A (p.Leu251=)
|
rs370316956
|
0.00009
|
NM_006267.5(RANBP2):c.8859C>T (p.Arg2953=)
|
rs779450120
|
0.00009
|
NM_012448.4(STAT5B):c.2352C>T (p.His784=)
|
rs375173590
|
0.00009
|
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala)
|
rs112496709
|
0.00009
|
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)
|
rs369483167
|
0.00009
|
NM_017491.5(WDR1):c.489C>G (p.Ala163=)
|
rs201161346
|
0.00009
|
NM_017777.4(MKS1):c.516-10T>C
|
rs375046501
|
0.00009
|
NM_018055.5(NODAL):c.586C>T (p.Leu196Phe)
|
rs200445211
|
0.00009
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met)
|
rs201654872
|
0.00009
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)
|
rs375062187
|
0.00009
|
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln)
|
rs199476414
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe)
|
rs181520023
|
0.00009
|
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)
|
rs369497741
|
0.00009
|
NM_000038.6(APC):c.573T>C (p.Tyr191=)
|
rs185154886
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000377.3(WAS):c.264C>T (p.Tyr88=)
|
rs150520117
|
0.00008
|
NM_000548.5(TSC2):c.4662+18G>A
|
rs45517357
|
0.00008
|
NM_000726.5(CACNB4):c.771G>A (p.Thr257=)
|
rs2293219
|
0.00008
|
NM_001099274.3(TINF2):c.1302C>T (p.His434=)
|
rs568909774
|
0.00008
|
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr)
|
rs782162498
|
0.00008
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00008
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)
|
rs587780445
|
0.00008
|
NM_001199397.3(NEK1):c.1080+4T>C
|
rs757527637
|
0.00008
|
NM_001232.4(CASQ2):c.774T>C (p.Phe258=)
|
rs181769947
|
0.00008
|
NM_001369.3(DNAH5):c.7888-4A>G
|
rs775268409
|
0.00008
|
NM_001370259.2(MEN1):c.1185+12G>A
|
rs373609932
|
0.00008
|
NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser)
|
rs527248119
|
0.00008
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
NM_002637.4(PHKA1):c.3080G>C (p.Gly1027Ala)
|
rs145272281
|
0.00008
|
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=)
|
rs587781011
|
0.00008
|
NM_004958.4(MTOR):c.3802-8G>T
|
rs546427418
|
0.00008
|
NM_005477.3(HCN4):c.3531G>T (p.Gly1177=)
|
rs375911378
|
0.00008
|
NM_006904.7(PRKDC):c.2529C>T (p.Asn843=)
|
rs576550975
|
0.00008
|
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)
|
rs372430727
|
0.00008
|
NM_015922.3(NSDHL):c.1020C>T (p.Cys340=)
|
rs376794048
|
0.00008
|
NM_017780.4(CHD7):c.3778+17C>T
|
rs111863846
|
0.00008
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
NM_025132.4(WDR19):c.2454C>T (p.Ala818=)
|
rs748535483
|
0.00008
|
NM_030665.4(RAI1):c.1650C>T (p.Pro550=)
|
rs143287802
|
0.00008
|
NM_033629.6(TREX1):c.486G>A (p.Leu162=)
|
rs55786737
|
0.00008
|
NM_144573.4(NEXN):c.78T>C (p.Leu26=)
|
rs376535223
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_198253.3(TERT):c.1392C>T (p.Phe464=)
|
rs186596886
|
0.00008
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
NM_000234.3(LIG1):c.1569C>T (p.His523=)
|
rs758926643
|
0.00007
|
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=)
|
rs745993706
|
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_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000335.5(SCN5A):c.1842A>G (p.Pro614=)
|
rs766696979
|
0.00007
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
NM_000337.6(SGCD):c.402T>C (p.Ala134=)
|
rs190935424
|
0.00007
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys)
|
rs781838464
|
0.00007
|
NM_001110556.2(FLNA):c.2023-4C>G
|
rs368719012
|
0.00007
|
NM_001111125.3(IQSEC2):c.3015+9A>G
|
rs781956154
|
0.00007
|
NM_001111125.3(IQSEC2):c.3541C>T (p.Pro1181Ser)
|
rs782101524
|
0.00007
|
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys)
|
rs371908649
|
0.00007
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
NM_001267550.2(TTN):c.66C>T (p.Thr22=)
|
rs143623862
|
0.00007
|
NM_001267550.2(TTN):c.71452A>G (p.Ile23818Val)
|
rs776911847
|
0.00007
|
NM_001365276.2(TNXB):c.6819C>T (p.Pro2273=)
|
rs374172438
|
0.00007
|
NM_001366385.1(CARD14):c.345T>C (p.Phe115=)
|
rs372257600
|
0.00007
|
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln)
|
rs765173966
|
0.00007
|
NM_001458.5(FLNC):c.7605G>A (p.Ser2535=)
|
rs777724201
|
0.00007
|
NM_002163.4(IRF8):c.1077C>T (p.Pro359=)
|
rs148203070
|
0.00007
|
NM_002230.4(JUP):c.1774-6C>T
|
rs375016135
|
0.00007
|
NM_004006.3(DMD):c.9093C>T (p.Val3031=)
|
rs72466563
|
0.00007
|
NM_004187.5(KDM5C):c.3533C>T (p.Ser1178Leu)
|
rs370672146
|
0.00007
|
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)
|
rs141559558
|
0.00007
|
NM_004356.4(CD81):c.426C>T (p.Asn142=)
|
rs369472934
|
0.00007
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_004958.4(MTOR):c.1566C>T (p.Tyr522=)
|
rs369221365
|
0.00007
|
NM_005120.3(MED12):c.1167G>A (p.Lys389=)
|
rs374324656
|
0.00007
|
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=)
|
rs778120777
|
0.00007
|
NM_016938.5(EFEMP2):c.975-15C>T
|
rs768211662
|
0.00007
|
NM_017617.5(NOTCH1):c.2014+16C>T
|
rs199814619
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)
|
rs369167555
|
0.00007
|
NM_020988.3(GNAO1):c.75G>A (p.Glu25=)
|
rs182812404
|
0.00007
|
NM_021625.5(TRPV4):c.387-9C>T
|
rs552614584
|
0.00007
|
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)
|
rs199473678
|
0.00007
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00007
|
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile)
|
rs763889166
|
0.00007
|
NM_031407.7(HUWE1):c.4527C>T (p.Thr1509=)
|
rs368416687
|
0.00007
|
NM_032119.4(ADGRV1):c.6174A>T (p.Ile2058=)
|
rs370197017
|
0.00007
|
NM_032578.4(MYPN):c.660G>A (p.Arg220=)
|
rs372218308
|
0.00007
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00007
|
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)
|
rs375661404
|
0.00007
|
NM_000051.4(ATM):c.3577-13T>C
|
rs587780856
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
0.00006
|
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys)
|
rs80359123
|
0.00006
|
NM_000081.4(LYST):c.3030A>G (p.Gly1010=)
|
rs751511204
|
0.00006
|
NM_000089.4(COL1A2):c.81+15T>C
|
rs758384218
|
0.00006
|
NM_000117.3(EMD):c.188-12C>T
|
rs371016049
|
0.00006
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
NM_000132.4(F8):c.3701A>T (p.His1234Leu)
|
rs145507297
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
NM_000214.3(JAG1):c.1383C>T (p.Asp461=)
|
rs140604589
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000256.3(MYBPC3):c.1224-80G>A
|
rs1025692267
|
0.00006
|
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=)
|
rs377579620
|
0.00006
|
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=)
|
rs61897383
|
0.00006
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000302.4(PLOD1):c.77-7T>C
|
rs371488160
|
0.00006
|
NM_000337.6(SGCD):c.295-20C>A
|
rs144250417
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=)
|
rs538803955
|
0.00006
|
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)
|
rs74315467
|
0.00006
|
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr)
|
rs146250893
|
0.00006
|
NM_001002295.2(GATA3):c.840G>C (p.Thr280=)
|
rs144796042
|
0.00006
|
NM_001035.3(RYR2):c.14808+17A>C
|
rs368520821
|
0.00006
|
NM_001035.3(RYR2):c.1612+13A>G
|
rs368200572
|
0.00006
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)
|
rs751247865
|
0.00006
|
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=)
|
rs145489423
|
0.00006
|
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=)
|
rs782204300
|
0.00006
|
NM_001130823.3(DNMT1):c.3960C>T (p.Tyr1320=)
|
rs139728982
|
0.00006
|
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser)
|
rs374611807
|
0.00006
|
NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg)
|
rs201628725
|
0.00006
|
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=)
|
rs2227913
|
0.00006
|
NM_001261826.3(AP3D1):c.3285C>T (p.His1095=)
|
rs773829362
|
0.00006
|
NM_001267550.2(TTN):c.10659A>G (p.Thr3553=)
|
rs748958021
|
0.00006
|
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile)
|
rs375735354
|
0.00006
|
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln)
|
rs746384579
|
0.00006
|
NM_001267550.2(TTN):c.57112-14T>C
|
rs777473081
|
0.00006
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly)
|
rs375830234
|
0.00006
|
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=)
|
rs545377175
|
0.00006
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe)
|
rs3813244
|
0.00006
|
NM_001267550.2(TTN):c.86463A>G (p.Gly28821=)
|
rs368268066
|
0.00006
|
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=)
|
rs746569192
|
0.00006
|
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)
|
rs561739832
|
0.00006
|
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His)
|
rs55676195
|
0.00006
|
NM_001352000.1(LOC110384692):c.2719= (p.Ala907=)
|
rs796750528
|
0.00006
|
NM_001372044.2(SHANK3):c.5412C>T (p.Asp1804=)
|
rs1012662762
|
0.00006
|
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg)
|
rs534635095
|
0.00006
|
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
0.00006
|
NM_001927.4(DES):c.1024-7C>G
|
rs779098835
|
0.00006
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=)
|
rs529676901
|
0.00006
|
NM_002471.4(MYH6):c.5292C>T (p.Ala1764=)
|
rs753745013
|
0.00006
|
NM_002661.5(PLCG2):c.421A>G (p.Ile141Val)
|
rs554363067
|
0.00006
|
NM_002834.5(PTPN11):c.616T>C (p.Leu206=)
|
rs78376169
|
0.00006
|
NM_003036.4(SKI):c.1182C>T (p.Ser394=)
|
rs542616415
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=)
|
rs758265897
|
0.00006
|
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)
|
rs143063879
|
0.00006
|
NM_003482.4(KMT2D):c.7904G>A (p.Arg2635Gln)
|
rs200359477
|
0.00006
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092
|
0.00006
|
NM_003824.4(FADD):c.313T>C (p.Cys105Arg)
|
rs369869993
|
0.00006
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
NM_004100.5(EYA4):c.1338A>G (p.Leu446=)
|
rs200309400
|
0.00006
|
NM_004415.4(DSP):c.2437-20T>G
|
rs778134276
|
0.00006
|
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys)
|
rs148139669
|
0.00006
|
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=)
|
rs369716393
|
0.00006
|
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys)
|
rs1424485718
|
0.00006
|
NM_005765.3(ATP6AP2):c.822T>C (p.Ile274=)
|
rs149902247
|
0.00006
|
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg)
|
rs771099131
|
0.00006
|
NM_007118.4(TRIO):c.2686G>A (p.Ala896Thr)
|
rs753652108
|
0.00006
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
NM_012134.3(LMOD1):c.349C>T (p.Arg117Trp)
|
rs559672115
|
0.00006
|
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu)
|
rs142392597
|
0.00006
|
NM_014000.3(VCL):c.2349G>A (p.Val783=)
|
rs558040780
|
0.00006
|
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp)
|
rs779047174
|
0.00006
|
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)
|
rs775057827
|
0.00006
|
NM_014391.3(ANKRD1):c.544C>T (p.Arg182Cys)
|
rs754717867
|
0.00006
|
NM_015909.4(NBAS):c.648-7A>T
|
rs765237685
|
0.00006
|
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser)
|
rs768095251
|
0.00006
|
NM_017668.3(NDE1):c.948-9103C>T
|
rs202120792
|
0.00006
|
NM_017837.4(PIGV):c.439C>T (p.Gln147Ter)
|
rs185641230
|
0.00006
|
NM_020297.4(ABCC9):c.4512+711G>A
|
rs72559751
|
0.00006
|
NM_020774.4(MIB1):c.376C>T (p.Arg126Ter)
|
rs190657514
|
0.00006
|
NM_021245.4(MYOZ1):c.551A>G (p.Tyr184Cys)
|
rs201443990
|
0.00006
|
NM_022114.4(PRDM16):c.2691+4C>T
|
rs374015321
|
0.00006
|
NM_022489.4(INF2):c.885G>A (p.Leu295=)
|
rs370680236
|
0.00006
|
NM_024426.6(WT1):c.1146T>A (p.Thr382=)
|
rs371168589
|
0.00006
|
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)
|
rs752140135
|
0.00006
|
NM_025099.6(CTC1):c.1002C>T (p.Leu334=)
|
rs369276308
|
0.00006
|
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly)
|
rs202226502
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala)
|
rs763880352
|
0.00006
|
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)
|
rs368812830
|
0.00006
|
NM_152381.6(XIRP2):c.3918G>A (p.Gln1306=)
|
rs577878226
|
0.00006
|
NM_152564.5(VPS13B):c.1303-9G>A
|
rs370251445
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_175875.5(SIX5):c.1498G>A (p.Gly500Arg)
|
rs766460655
|
0.00006
|
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)
|
rs146907132
|
0.00006
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000057.4(BLM):c.4077-5T>C
|
rs200653178
|
0.00005
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)
|
rs201572666
|
0.00005
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)
|
rs80356681
|
0.00005
|
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=)
|
rs397515906
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_001040151.2(SCN3B):c.570A>G (p.Ala190=)
|
rs575419664
|
0.00005
|
NM_001065.4(TNFRSF1A):c.168G>A (p.Ser56=)
|
rs104895280
|
0.00005
|
NM_001080512.3(BICC1):c.637A>G (p.Ile213Val)
|
rs550455235
|
0.00005
|
NM_001105206.3(LAMA4):c.4208C>T (p.Pro1403Leu)
|
rs1255830395
|
0.00005
|
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=)
|
rs377579695
|
0.00005
|
NM_001110556.2(FLNA):c.543G>A (p.Pro181=)
|
rs201486643
|
0.00005
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
NM_001127222.2(CACNA1A):c.4591-9C>G
|
rs16032
|
0.00005
|
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp)
|
rs397516599
|
0.00005
|
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=)
|
rs772345040
|
0.00005
|
NM_001267550.2(TTN):c.3380+9A>G
|
rs770149480
|
0.00005
|
NM_001267550.2(TTN):c.49649-11T>C
|
rs727504474
|
0.00005
|
NM_001267550.2(TTN):c.49704A>G (p.Val16568=)
|
rs565691537
|
0.00005
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
NM_001267550.2(TTN):c.54811+10C>T
|
rs796651993
|
0.00005
|
NM_001267550.2(TTN):c.59456C>T (p.Thr19819Ile)
|
rs758287054
|
0.00005
|
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met)
|
rs370375696
|
0.00005
|
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His)
|
rs371615296
|
0.00005
|
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn)
|
rs554231442
|
0.00005
|
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro)
|
rs568322187
|
0.00005
|
NM_001267550.2(TTN):c.93708C>T (p.Asp31236=)
|
rs560835240
|
0.00005
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)
|
rs141121678
|
0.00005
|
NM_001291303.3(FAT4):c.9163C>A (p.Gln3055Lys)
|
rs199778782
|
0.00005
|
NM_001367721.1(CASK):c.195C>T (p.Ile65=)
|
rs769320891
|
0.00005
|
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln)
|
rs200645738
|
0.00005
|
NM_001458.5(FLNC):c.2425G>A (p.Val809Met)
|
rs775770671
|
0.00005
|
NM_001458.5(FLNC):c.2490C>T (p.Thr830=)
|
rs777580254
|
0.00005
|
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys)
|
rs367931139
|
0.00005
|
NM_002230.4(JUP):c.460G>A (p.Glu154Lys)
|
rs782765314
|
0.00005
|
NM_002471.4(MYH6):c.5427A>C (p.Gly1809=)
|
rs149294569
|
0.00005
|
NM_002473.6(MYH9):c.2280A>G (p.Lys760=)
|
rs549515435
|
0.00005
|
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)
|
rs376154041
|
0.00005
|
NM_003737.4(DCHS1):c.4608C>T (p.Val1536=)
|
rs769958055
|
0.00005
|
NM_004408.4(DNM1):c.1422+7C>A
|
rs761674210
|
0.00005
|
NM_004484.4(GPC3):c.168C>G (p.Pro56=)
|
rs188592483
|
0.00005
|
NM_004958.4(MTOR):c.5811+13G>A
|
rs370120494
|
0.00005
|
NM_004958.4(MTOR):c.5812-19G>A
|
rs374670621
|
0.00005
|
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met)
|
rs782413424
|
0.00005
|
NM_005956.4(MTHFD1):c.1128-10C>T
|
rs377181293
|
0.00005
|
NM_006231.4(POLE):c.5253C>T (p.Ala1751=)
|
rs765888059
|
0.00005
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
NM_014000.3(VCL):c.528C>T (p.Asp176=)
|
rs746453891
|
0.00005
|
NM_014339.7(IL17RA):c.327C>T (p.Leu109=)
|
rs202060976
|
0.00005
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)
|
rs761196275
|
0.00005
|
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=)
|
rs374476363
|
0.00005
|
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys)
|
rs1472690723
|
0.00005
|
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)
|
rs201053795
|
0.00005
|
NM_020297.4(ABCC9):c.4512+7A>G
|
rs371646433
|
0.00005
|
NM_021942.6(TRAPPC11):c.1288-5A>G
|
rs774073046
|
0.00005
|
NM_024334.3(TMEM43):c.442+12G>C
|
rs530183718
|
0.00005
|
NM_024334.3(TMEM43):c.882+17A>G
|
rs370443570
|
0.00005
|
NM_024411.5(PDYN):c.74G>A (p.Arg25Gln)
|
rs369559888
|
0.00005
|
NM_031407.7(HUWE1):c.2614C>A (p.Arg872=)
|
rs782695696
|
0.00005
|
NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe)
|
rs199905054
|
0.00005
|
NM_000027.4(AGA):c.645A>G (p.Thr215=)
|
rs201441868
|
0.00004
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000059.4(BRCA2):c.7806-48A>G
|
rs751904687
|
0.00004
|
NM_000081.4(LYST):c.9804A>G (p.Pro3268=)
|
rs368740409
|
0.00004
|
NM_000091.5(COL4A3):c.934-6C>A
|
rs369438839
|
0.00004
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000188.3(HK1):c.1265+19A>G
|
rs560638858
|
0.00004
|
NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=)
|
rs368991974
|
0.00004
|
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val)
|
rs149366993
|
0.00004
|
NM_000215.4(JAK3):c.2772C>T (p.Ser924=)
|
rs199939250
|
0.00004
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)
|
rs368918487
|
0.00004
|
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
|
rs773819168
|
0.00004
|
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=)
|
rs371842442
|
0.00004
|
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)
|
rs373730381
|
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.4083T>G (p.Leu1361=)
|
rs754295295
|
0.00004
|
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=)
|
rs587781085
|
0.00004
|
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)
|
rs776282574
|
0.00004
|
NM_000257.4(MYH7):c.640-18C>T
|
rs776778917
|
0.00004
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)
|
rs763891399
|
0.00004
|
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys)
|
rs199473335
|
0.00004
|
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)
|
rs549319429
|
0.00004
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000383.4(AIRE):c.531C>T (p.Leu177=)
|
rs538568691
|
0.00004
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)
|
rs121912978
|
0.00004
|
NM_000533.5(PLP1):c.799G>A (p.Val267Ile)
|
rs137966879
|
0.00004
|
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=)
|
rs202058956
|
0.00004
|
NM_000744.7(CHRNA4):c.383+7C>T
|
rs200690355
|
0.00004
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
NM_001005242.3(PKP2):c.714G>A (p.Pro238=)
|
rs727503372
|
0.00004
|
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=)
|
rs377661579
|
0.00004
|
NM_001009944.3(PKD1):c.9708C>T (p.Ala3236=)
|
rs755291122
|
0.00004
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00004
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)
|
rs148846795
|
0.00004
|
NM_001079802.2(FKTN):c.207T>C (p.Asn69=)
|
rs752921570
|
0.00004
|
NM_001099274.3(TINF2):c.819C>T (p.Ala273=)
|
rs376845893
|
0.00004
|
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)
|
rs374163823
|
0.00004
|
NM_001134363.3(RBM20):c.2916G>A (p.Gly972=)
|
rs1391384955
|
0.00004
|
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe)
|
rs769531546
|
0.00004
|
NM_001134363.3(RBM20):c.933G>C (p.Leu311=)
|
rs761015603
|
0.00004
|
NM_001148.6(ANK2):c.417A>G (p.Gln139=)
|
rs145234030
|
0.00004
|
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=)
|
rs139515379
|
0.00004
|
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=)
|
rs78544619
|
0.00004
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr)
|
rs527924868
|
0.00004
|
NM_001267550.2(TTN):c.33015A>C (p.Pro11005=)
|
rs369298371
|
0.00004
|
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val)
|
rs746063269
|
0.00004
|
NM_001267550.2(TTN):c.43214-16T>C
|
rs760520019
|
0.00004
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00004
|
NM_001267550.2(TTN):c.54382-17G>T
|
rs567215912
|
0.00004
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00004
|
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)
|
rs557628408
|
0.00004
|
NM_001267550.2(TTN):c.85308C>T (p.Ala28436=)
|
rs765611726
|
0.00004
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00004
|
NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn)
|
rs534881266
|
0.00004
|
NM_001267550.2(TTN):c.96390G>A (p.Thr32130=)
|
rs200999706
|
0.00004
|
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln)
|
rs745632066
|
0.00004
|
NM_001276345.2(TNNT2):c.52+13G>A
|
rs376820377
|
0.00004
|
NM_001308093.3(GATA4):c.860C>T (p.Ala287Val)
|
rs116430078
|
0.00004
|
NM_001323289.2(CDKL5):c.100-7C>T
|
rs752279222
|
0.00004
|
NM_001330588.2(TPP2):c.495+4G>C
|
rs376579048
|
0.00004
|
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val)
|
rs769622495
|
0.00004
|
NM_001376.5(DYNC1H1):c.10627-16C>T
|
rs762039479
|
0.00004
|
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala)
|
rs370118778
|
0.00004
|
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met)
|
rs200977103
|
0.00004
|
NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn)
|
rs372668691
|
0.00004
|
NM_001458.5(FLNC):c.6864C>T (p.Val2288=)
|
rs761269440
|
0.00004
|
NM_001572.5(IRF7):c.180C>T (p.Phe60=)
|
rs772718686
|
0.00004
|
NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser)
|
rs371184292
|
0.00004
|
NM_001943.5(DSG2):c.390C>T (p.Tyr130=)
|
rs369489095
|
0.00004
|
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)
|
rs786204291
|
0.00004
|
NM_002087.4(GRN):c.709-12G>C
|
rs771557106
|
0.00004
|
NM_002230.4(JUP):c.1945C>T (p.Leu649=)
|
rs149148171
|
0.00004
|
NM_002294.3(LAMP2):c.*2771A>G
|
rs747304113
|
0.00004
|
NM_002335.4(LRP5):c.91+9G>C
|
rs569517144
|
0.00004
|
NM_002474.3(MYH11):c.1575+7G>A
|
rs754750176
|
0.00004
|
NM_002641.4(PIGA):c.981+8G>A
|
rs778602062
|
0.00004
|
NM_002661.5(PLCG2):c.183C>T (p.Ile61=)
|
rs553657822
|
0.00004
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
NM_003239.5(TGFB3):c.288C>T (p.Thr96=)
|
rs201047560
|
0.00004
|
NM_003467.3(CXCR4):c.87C>T (p.Phe29=)
|
rs768296315
|
0.00004
|
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)
|
rs193922667
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)
|
rs777510517
|
0.00004
|
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys)
|
rs143918578
|
0.00004
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
NM_004517.4(ILK):c.551A>C (p.Lys184Thr)
|
rs762454800
|
0.00004
|
NM_005051.3(QARS1):c.1542A>G (p.Pro514=)
|
rs370232570
|
0.00004
|
NM_005097.4(LGI1):c.744G>A (p.Glu248=)
|
rs199916185
|
0.00004
|
NM_005359.6(SMAD4):c.228A>G (p.Arg76=)
|
rs587780556
|
0.00004
|
NM_006393.3(NEBL):c.311G>A (p.Arg104Gln)
|
rs537661572
|
0.00004
|
NM_007078.3(LDB3):c.867C>T (p.Asp289=)
|
rs397517227
|
0.00004
|
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu)
|
rs371649487
|
0.00004
|
NM_007118.4(TRIO):c.2964C>T (p.Cys988=)
|
rs144236504
|
0.00004
|
NM_007126.5(VCP):c.446-17A>G
|
rs543629555
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser)
|
rs745571457
|
0.00004
|
NM_013266.4(CTNNA3):c.1721T>C (p.Leu574Pro)
|
rs375428912
|
0.00004
|
NM_014000.3(VCL):c.1177-14G>A
|
rs778137720
|
0.00004
|
NM_014000.3(VCL):c.1206G>A (p.Pro402=)
|
rs779265817
|
0.00004
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00004
|
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)
|
rs764162597
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=)
|
rs762732089
|
0.00004
|
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)
|
rs375260339
|
0.00004
|
NM_017617.5(NOTCH1):c.5168-4G>A
|
rs751709616
|
0.00004
|
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=)
|
rs376590737
|
0.00004
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
NM_019842.4(KCNQ5):c.2405G>A (p.Arg802His)
|
rs772426088
|
0.00004
|
NM_020774.4(MIB1):c.138G>A (p.Glu46=)
|
rs376396687
|
0.00004
|
NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu)
|
rs199907297
|
0.00004
|
NM_021625.5(TRPV4):c.2010C>T (p.Leu670=)
|
rs755755753
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_022168.4(IFIH1):c.1642-8A>G
|
rs772580594
|
0.00004
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)
|
rs751290509
|
0.00004
|
NM_033118.4(MYLK2):c.417C>T (p.Ala139=)
|
rs560951755
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln)
|
rs373057251
|
0.00004
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
NM_152274.5(CCNQ):c.501C>T (p.Ala167=)
|
rs782615471
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_182961.4(SYNE1):c.2893-13C>T
|
rs148337270
|
0.00004
|
NM_000022.4(ADA):c.1079-7C>T
|
rs551934402
|
0.00003
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)
|
rs80358570
|
0.00003
|
NM_000064.4(C3):c.4520G>A (p.Arg1507His)
|
rs551187980
|
0.00003
|
NM_000073.3(CD3G):c.205A>T (p.Lys69Ter)
|
rs199676861
|
0.00003
|
NM_000085.5(CLCNKB):c.968+1G>A
|
rs201204502
|
0.00003
|
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=)
|
rs574331101
|
0.00003
|
NM_000116.5(TAFAZZIN):c.371-6C>A
|
rs782195445
|
0.00003
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
NM_000132.4(F8):c.733C>T (p.Arg245Trp)
|
rs781943956
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000169.3(GLA):c.416A>G (p.Asn139Ser)
|
rs138886989
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.937G>A (p.Ala313Thr)
|
rs62642912
|
0.00003
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
NM_000298.6(PKLR):c.401T>A (p.Val134Asp)
|
rs574051756
|
0.00003
|
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys)
|
rs199473123
|
0.00003
|
NM_000335.5(SCN5A):c.2253C>T (p.Val751=)
|
rs371649934
|
0.00003
|
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)
|
rs557957405
|
0.00003
|
NM_000371.4(TTR):c.70-9T>C
|
rs764059061
|
0.00003
|
NM_000393.5(COL5A2):c.537G>A (p.Pro179=)
|
rs762891893
|
0.00003
|
NM_000489.6(ATRX):c.2001G>A (p.Pro667=)
|
rs139997330
|
0.00003
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
NM_001035.3(RYR2):c.14152-15G>A
|
rs371785571
|
0.00003
|
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln)
|
rs201994938
|
0.00003
|
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg)
|
rs376144003
|
0.00003
|
NM_001103.4(ACTN2):c.1541T>C (p.Ile514Thr)
|
rs371954663
|
0.00003
|
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp)
|
rs150021739
|
0.00003
|
NM_001110792.2(MECP2):c.967A>G (p.Thr323Ala)
|
rs782208190
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu)
|
rs1442777428
|
0.00003
|
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=)
|
rs1045844360
|
0.00003
|
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=)
|
rs755385158
|
0.00003
|
NM_001161352.2(KCNMA1):c.2340C>T (p.Asn780=)
|
rs767100016
|
0.00003
|
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe)
|
rs578244490
|
0.00003
|
NM_001261826.3(AP3D1):c.309C>T (p.His103=)
|
rs371510538
|
0.00003
|
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)
|
rs200325324
|
0.00003
|
NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met)
|
rs1060500516
|
0.00003
|
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)
|
rs367901929
|
0.00003
|
NM_001267550.2(TTN):c.45779T>C (p.Leu15260Pro)
|
rs552053581
|
0.00003
|
NM_001267550.2(TTN):c.46697-19_46697-18del
|
rs530484268
|
0.00003
|
NM_001267550.2(TTN):c.50355-15T>C
|
rs757425897
|
0.00003
|
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)
|
rs373815064
|
0.00003
|
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)
|
rs374203813
|
0.00003
|
NM_001267550.2(TTN):c.63330G>A (p.Ala21110=)
|
rs727504885
|
0.00003
|
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln)
|
rs373282633
|
0.00003
|
NM_001267550.2(TTN):c.72271G>C (p.Asp24091His)
|
rs878924658
|
0.00003
|
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys)
|
rs886039083
|
0.00003
|
NM_001267550.2(TTN):c.90845C>T (p.Thr30282Met)
|
rs756769026
|
0.00003
|
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser)
|
rs368608059
|
0.00003
|
NM_001308093.3(GATA4):c.1067C>G (p.Thr356Ser)
|
rs200167770
|
0.00003
|
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)
|
rs1307758243
|
0.00003
|
NM_001330260.2(SCN8A):c.3957C>T (p.Ala1319=)
|
rs764790057
|
0.00003
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
NM_001367721.1(CASK):c.1686T>C (p.Ser562=)
|
rs758121698
|
0.00003
|
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=)
|
rs183916999
|
0.00003
|
NM_001382567.1(STIM1):c.1611A>G (p.Pro537=)
|
rs199512211
|
0.00003
|
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln)
|
rs573984029
|
0.00003
|
NM_001458.5(FLNC):c.602-16T>A
|
rs1236096502
|
0.00003
|
NM_001458.5(FLNC):c.7545C>T (p.Leu2515=)
|
rs369791058
|
0.00003
|
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)
|
rs576404380
|
0.00003
|
NM_001943.5(DSG2):c.2340G>T (p.Ala780=)
|
rs375539435
|
0.00003
|
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys)
|
rs769756450
|
0.00003
|
NM_002471.4(MYH6):c.3860-15T>G
|
rs200883903
|
0.00003
|
NM_002471.4(MYH6):c.4959+12C>T
|
rs371661383
|
0.00003
|
NM_002641.4(PIGA):c.1421G>T (p.Gly474Val)
|
rs142772459
|
0.00003
|
NM_002667.5(PLN):c.26G>A (p.Arg9His)
|
rs754782171
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)
|
rs372085480
|
0.00003
|
NM_003098.3(SNTA1):c.114C>T (p.Asp38=)
|
rs780018849
|
0.00003
|
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met)
|
rs397516851
|
0.00003
|
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)
|
rs529916753
|
0.00003
|
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp)
|
rs775636212
|
0.00003
|
NM_004006.3(DMD):c.6614+7C>T
|
rs180719577
|
0.00003
|
NM_004006.3(DMD):c.9649T>C (p.Tyr3217His)
|
rs766981643
|
0.00003
|
NM_004260.4(RECQL4):c.20T>G (p.Val7Gly)
|
rs781721739
|
0.00003
|
NM_004281.4(BAG3):c.483G>A (p.Gln161=)
|
rs758279156
|
0.00003
|
NM_004415.4(DSP):c.1904-17C>G
|
rs370715047
|
0.00003
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
NM_004415.4(DSP):c.6368G>A (p.Arg2123His)
|
rs142272846
|
0.00003
|
NM_005572.4(LMNA):c.1712G>A (p.Arg571His)
|
rs200917748
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_005751.5(AKAP9):c.4872A>G (p.Glu1624=)
|
rs570384292
|
0.00003
|
NM_007254.4(PNKP):c.817-12C>T
|
rs369567366
|
0.00003
|
NM_007294.4(BRCA1):c.-19-22A>G
|
rs774892235
|
0.00003
|
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)
|
rs80356740
|
0.00003
|
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
|
rs749381544
|
0.00003
|
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)
|
rs576030298
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_020297.4(ABCC9):c.1416T>C (p.Phe472=)
|
rs777308898
|
0.00003
|
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys)
|
rs773228285
|
0.00003
|
NM_020975.6(RET):c.2331C>T (p.Asn777=)
|
rs753977221
|
0.00003
|
NM_024422.6(DSC2):c.870A>G (p.Pro290=)
|
rs142653119
|
0.00003
|
NM_030777.4(SLC2A10):c.306C>T (p.Val102=)
|
rs530216827
|
0.00003
|
NM_031407.7(HUWE1):c.4827C>T (p.Tyr1609=)
|
rs782435043
|
0.00003
|
NM_144573.4(NEXN):c.1053+1G>A
|
rs397517843
|
0.00003
|
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala)
|
rs112749780
|
0.00003
|
NM_152564.5(VPS13B):c.581-10T>C
|
rs770058631
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_206937.2(LIG4):c.1954G>A (p.Val652Ile)
|
rs754457967
|
0.00003
|
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro)
|
rs571694324
|
0.00003
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)
|
rs80358511
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000059.4(BRCA2):c.8331+16C>G
|
rs730881595
|
0.00002
|
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=)
|
rs587782428
|
0.00002
|
NM_000081.4(LYST):c.2757G>A (p.Ser919=)
|
rs753541871
|
0.00002
|
NM_000081.4(LYST):c.9834T>C (p.Thr3278=)
|
rs901343967
|
0.00002
|
NM_000090.4(COL3A1):c.186C>T (p.Cys62=)
|
rs764749176
|
0.00002
|
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)
|
rs782196269
|
0.00002
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
NM_000117.3(EMD):c.276C>T (p.Asp92=)
|
rs782680849
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000142.5(FGFR3):c.870C>T (p.His290=)
|
rs370518637
|
0.00002
|
NM_000156.6(GAMT):c.642G>A (p.Leu214=)
|
rs746723263
|
0.00002
|
NM_000214.3(JAG1):c.2049C>T (p.Arg683=)
|
rs1389234825
|
0.00002
|
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu)
|
rs200108320
|
0.00002
|
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe)
|
rs75610894
|
0.00002
|
NM_000219.6(KCNE1):c.174C>G (p.Thr58=)
|
rs727503101
|
0.00002
|
NM_000238.4(KCNH2):c.1558-6C>T
|
rs777107971
|
0.00002
|
NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys)
|
rs769605806
|
0.00002
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg)
|
rs775837337
|
0.00002
|
NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=)
|
rs547477069
|
0.00002
|
NM_000256.3(MYBPC3):c.2275G>A (p.Glu759Lys)
|
rs750810342
|
0.00002
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)
|
rs376461745
|
0.00002
|
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe)
|
rs397516105
|
0.00002
|
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn)
|
rs755392435
|
0.00002
|
NM_000257.4(MYH7):c.354G>A (p.Ser118=)
|
rs368925624
|
0.00002
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)
|
rs200728597
|
0.00002
|
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)
|
rs565312070
|
0.00002
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000335.5(SCN5A):c.1308G>A (p.Glu436=)
|
rs555224775
|
0.00002
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
NM_000335.5(SCN5A):c.3732G>A (p.Met1244Ile)
|
rs753677814
|
0.00002
|
NM_000363.5(TNNI3):c.543C>T (p.Thr181=)
|
rs926550445
|
0.00002
|
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)
|
rs104895380
|
0.00002
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_000548.5(TSC2):c.2358C>T (p.Arg786=)
|
rs372834284
|
0.00002
|
NM_000702.4(ATP1A2):c.589G>A (p.Val197Ile)
|
rs540087535
|
0.00002
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser)
|
rs777736127
|
0.00002
|
NM_001037.5(SCN1B):c.546C>T (p.Tyr182=)
|
rs775659068
|
0.00002
|
NM_001042432.2(CLN3):c.240G>A (p.Thr80=)
|
rs373911322
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001105206.3(LAMA4):c.815-13G>A
|
rs372004668
|
0.00002
|
NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=)
|
rs782080545
|
0.00002
|
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=)
|
rs782152127
|
0.00002
|
NM_001110556.2(FLNA):c.6503-9A>G
|
rs781919390
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001127222.2(CACNA1A):c.3000G>A (p.Glu1000=)
|
rs965510264
|
0.00002
|
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)
|
rs374063403
|
0.00002
|
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr)
|
rs1300657058
|
0.00002
|
NM_001195248.2(APTX):c.559C>T (p.Gln187Ter)
|
rs770579215
|
0.00002
|
NM_001195518.2(MICU1):c.735+1G>A
|
rs369915689
|
0.00002
|
NM_001243133.2(NLRP3):c.1642C>T (p.Arg548Cys)
|
rs201678213
|
0.00002
|
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)
|
rs201096167
|
0.00002
|
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)
|
rs727504491
|
0.00002
|
NM_001267550.2(TTN):c.16576A>C (p.Asn5526His)
|
rs752558197
|
0.00002
|
NM_001267550.2(TTN):c.1851A>C (p.Thr617=)
|
rs727504530
|
0.00002
|
NM_001267550.2(TTN):c.343G>A (p.Val115Met)
|
rs564777385
|
0.00002
|
NM_001267550.2(TTN):c.35351G>A (p.Arg11784His)
|
rs756874306
|
0.00002
|
NM_001267550.2(TTN):c.38465-14T>C
|
rs887421079
|
0.00002
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
NM_001267550.2(TTN):c.45498C>T (p.Asp15166=)
|
rs752554634
|
0.00002
|
NM_001267550.2(TTN):c.47712T>C (p.Asp15904=)
|
rs1397706325
|
0.00002
|
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys)
|
rs779336886
|
0.00002
|
NM_001267550.2(TTN):c.55808C>T (p.Pro18603Leu)
|
rs531760043
|
0.00002
|
NM_001267550.2(TTN):c.57405A>G (p.Gln19135=)
|
rs773605848
|
0.00002
|
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)
|
rs727504490
|
0.00002
|
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)
|
rs201448988
|
0.00002
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
NM_001267550.2(TTN):c.7331-11T>C
|
rs1198109375
|
0.00002
|
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln)
|
rs536183519
|
0.00002
|
NM_001267550.2(TTN):c.87041G>A (p.Arg29014Gln)
|
rs772536290
|
0.00002
|
NM_001267550.2(TTN):c.97510G>A (p.Glu32504Lys)
|
rs768612570
|
0.00002
|
NM_001276345.2(TNNT2):c.282A>G (p.Arg94=)
|
rs397516453
|
0.00002
|
NM_001289808.2(CRYAB):c.516C>A (p.Ala172=)
|
rs143500486
|
0.00002
|
NM_001308093.3(GATA4):c.786+15C>T
|
rs374933423
|
0.00002
|
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)
|
rs132630312
|
0.00002
|
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)
|
rs576402053
|
0.00002
|
NM_001458.5(FLNC):c.5124G>A (p.Ala1708=)
|
rs764707313
|
0.00002
|
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn)
|
rs550547714
|
0.00002
|
NM_001458.5(FLNC):c.977T>C (p.Val326Ala)
|
rs570010538
|
0.00002
|
NM_001845.6(COL4A1):c.1239G>A (p.Pro413=)
|
rs572045661
|
0.00002
|
NM_001927.4(DES):c.1308G>C (p.Arg436Ser)
|
rs985185092
|
0.00002
|
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro)
|
rs201988564
|
0.00002
|
NM_002087.4(GRN):c.139-3T>C
|
rs371119011
|
0.00002
|
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)
|
rs201760315
|
0.00002
|
NM_002230.4(JUP):c.654G>A (p.Gly218=)
|
rs112105828
|
0.00002
|
NM_002471.4(MYH6):c.3468C>T (p.Gly1156=)
|
rs545420992
|
0.00002
|
NM_002471.4(MYH6):c.4010C>T (p.Ser1337Leu)
|
rs758922922
|
0.00002
|
NM_002471.4(MYH6):c.4059A>G (p.Thr1353=)
|
rs780653498
|
0.00002
|
NM_002474.3(MYH11):c.1077C>T (p.Ile359=)
|
rs763238555
|
0.00002
|
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)
|
rs148410166
|
0.00002
|
NM_003183.6(ADAM17):c.2346C>T (p.Phe782=)
|
rs201360504
|
0.00002
|
NM_003239.5(TGFB3):c.324C>T (p.Phe108=)
|
rs779502039
|
0.00002
|
NM_004006.3(DMD):c.1945C>T (p.Arg649Trp)
|
rs770572107
|
0.00002
|
NM_004006.3(DMD):c.6072T>C (p.Cys2024=)
|
rs373804251
|
0.00002
|
NM_004415.4(DSP):c.1903+4G>A
|
rs757726608
|
0.00002
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
NM_004415.4(DSP):c.3729A>G (p.Ser1243=)
|
rs150241609
|
0.00002
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp)
|
rs766454930
|
0.00002
|
NM_004415.4(DSP):c.8394T>A (p.Thr2798=)
|
rs775346694
|
0.00002
|
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser)
|
rs780431445
|
0.00002
|
NM_005045.4(RELN):c.9933C>T (p.Gly3311=)
|
rs532153046
|
0.00002
|
NM_005477.3(HCN4):c.1818C>T (p.Ser606=)
|
rs1247778865
|
0.00002
|
NM_005633.4(SOS1):c.2996A>G (p.Asn999Ser)
|
rs765070830
|
0.00002
|
NM_006306.4(SMC1A):c.1254+4G>A
|
rs781824288
|
0.00002
|
NM_007294.4(BRCA1):c.212+16A>G
|
rs1057522049
|
0.00002
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
NM_013266.4(CTNNA3):c.2104A>G (p.Ile702Val)
|
rs1197911296
|
0.00002
|
NM_013266.4(CTNNA3):c.67G>A (p.Val23Met)
|
rs776250185
|
0.00002
|
NM_013275.6(ANKRD11):c.5274C>T (p.Pro1758=)
|
rs367764283
|
0.00002
|
NM_014009.4(FOXP3):c.70C>T (p.Pro24Ser)
|
rs1557116742
|
0.00002
|
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys)
|
rs76475298
|
0.00002
|
NM_014141.6(CNTNAP2):c.3303C>T (p.Asp1101=)
|
rs772181075
|
0.00002
|
NM_014476.6(PDLIM3):c.803C>T (p.Pro268Leu)
|
rs1188446991
|
0.00002
|
NM_014639.4(SKIC3):c.2369C>T (p.Ala790Val)
|
rs750530127
|
0.00002
|
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu)
|
rs779760001
|
0.00002
|
NM_015991.4(C1QA):c.271C>T (p.Leu91Phe)
|
rs567106778
|
0.00002
|
NM_016734.3(PAX5):c.476-3C>T
|
rs372871442
|
0.00002
|
NM_017617.5(NOTCH1):c.1245G>A (p.Glu415=)
|
rs768028742
|
0.00002
|
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val)
|
rs369433978
|
0.00002
|
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)
|
rs376328153
|
0.00002
|
NM_018685.5(ANLN):c.688C>T (p.Pro230Ser)
|
rs369437029
|
0.00002
|
NM_020297.4(ABCC9):c.3221A>G (p.Asn1074Ser)
|
rs765629988
|
0.00002
|
NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=)
|
rs764155671
|
0.00002
|
NM_020297.4(ABCC9):c.3492C>T (p.Asp1164=)
|
rs1030398826
|
0.00002
|
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp)
|
rs770850932
|
0.00002
|
NM_022454.4(SOX17):c.867A>T (p.Pro289=)
|
rs778271163
|
0.00002
|
NM_024334.3(TMEM43):c.1000+16G>A
|
rs377252553
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_030787.4(CFHR5):c.1029G>A (p.Lys343=)
|
rs555221057
|
0.00002
|
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg)
|
rs1345796517
|
0.00002
|
NM_144573.4(NEXN):c.1368A>C (p.Gly456=)
|
rs397517845
|
0.00002
|
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)
|
rs373377525
|
0.00002
|
NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=)
|
rs537302175
|
0.00002
|
NM_170707.4(LMNA):c.1038C>T (p.Ala346=)
|
rs1019030652
|
0.00002
|
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)
|
rs777841827
|
0.00002
|
NM_182746.3(MCM4):c.714C>T (p.Asp238=)
|
rs924803520
|
0.00002
|
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu)
|
rs760800602
|
0.00002
|
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter)
|
rs939534674
|
0.00002
|
NM_000051.4(ATM):c.4420C>G (p.His1474Asp)
|
rs587779840
|
0.00001
|
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)
|
rs752850609
|
0.00001
|
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=)
|
rs755237462
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp)
|
rs369294255
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000064.4(C3):c.1908C>T (p.Ala636=)
|
rs757684194
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000081.4(LYST):c.5037T>C (p.Gly1679=)
|
rs753293453
|
0.00001
|
NM_000081.4(LYST):c.6216A>G (p.Val2072=)
|
rs371248013
|
0.00001
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000093.5(COL5A1):c.1005C>T (p.Ile335=)
|
rs761397885
|
0.00001
|
NM_000093.5(COL5A1):c.3725C>T (p.Thr1242Ile)
|
rs769091549
|
0.00001
|
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)
|
rs111033613
|
0.00001
|
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)
|
rs1490417405
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)
|
rs555776146
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000238.4(KCNH2):c.473-6C>T
|
rs751673669
|
0.00001
|
NM_000243.3(MEFV):c.2296A>C (p.Asn766His)
|
rs148707371
|
0.00001
|
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)
|
rs104895125
|
0.00001
|
NM_000256.3(MYBPC3):c.1091-8G>A
|
rs749622191
|
0.00001
|
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00001
|
NM_000256.3(MYBPC3):c.1985T>C (p.Val662Ala)
|
rs772970643
|
0.00001
|
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)
|
rs727503166
|
0.00001
|
NM_000256.3(MYBPC3):c.705C>T (p.Gly235=)
|
rs767913494
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000257.4(MYH7):c.2727C>A (p.Ile909=)
|
rs377722048
|
0.00001
|
NM_000257.4(MYH7):c.3246-10T>C
|
rs1333183479
|
0.00001
|
NM_000257.4(MYH7):c.328G>A (p.Gly110Ser)
|
rs763893822
|
0.00001
|
NM_000257.4(MYH7):c.3408C>T (p.Arg1136=)
|
rs947702752
|
0.00001
|
NM_000257.4(MYH7):c.3682C>T (p.Leu1228=)
|
rs560995739
|
0.00001
|
NM_000257.4(MYH7):c.3828G>C (p.Gln1276His)
|
rs1892377170
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
NM_000257.4(MYH7):c.430G>A (p.Gly144Ser)
|
rs1036184671
|
0.00001
|
NM_000257.4(MYH7):c.4353+6C>T
|
rs765398896
|
0.00001
|
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly)
|
rs200157204
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000257.4(MYH7):c.797-17T>C
|
rs532401716
|
0.00001
|
NM_000257.4(MYH7):c.896-17C>T
|
rs569428750
|
0.00001
|
NM_000258.3(MYL3):c.482-18G>A
|
rs1055139411
|
0.00001
|
NM_000276.4(OCRL):c.1944G>A (p.Ser648=)
|
rs776881376
|
0.00001
|
NM_000285.4(PEPD):c.1125C>T (p.Asp375=)
|
rs752440638
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000302.4(PLOD1):c.1097+10G>A
|
rs562510011
|
0.00001
|
NM_000302.4(PLOD1):c.1202+14G>A
|
rs757830518
|
0.00001
|
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val)
|
rs757119370
|
0.00001
|
NM_000335.5(SCN5A):c.3388-3T>C
|
rs949932623
|
0.00001
|
NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=)
|
rs1438433663
|
0.00001
|
NM_000337.6(SGCD):c.382+11G>A
|
rs1760629317
|
0.00001
|
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys)
|
rs147516124
|
0.00001
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
NM_000363.5(TNNI3):c.585C>T (p.Ile195=)
|
rs200085986
|
0.00001
|
NM_000363.5(TNNI3):c.606G>A (p.Glu202=)
|
rs796474405
|
0.00001
|
NM_000416.3(IFNGR1):c.373+1G>T
|
rs532749039
|
0.00001
|
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala)
|
rs2048640485
|
0.00001
|
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)
|
rs104895300
|
0.00001
|
NM_000431.4(MVK):c.59A>C (p.His20Pro)
|
rs104895295
|
0.00001
|
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)
|
rs769765227
|
0.00001
|
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=)
|
rs553616378
|
0.00001
|
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)
|
rs750055861
|
0.00001
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His)
|
rs376293495
|
0.00001
|
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)
|
rs565825739
|
0.00001
|
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)
|
rs730880056
|
0.00001
|
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr)
|
rs773930851
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala)
|
rs1555141066
|
0.00001
|
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)
|
rs560220280
|
0.00001
|
NM_001008537.3(NEXMIF):c.3222G>A (p.Pro1074=)
|
rs748567167
|
0.00001
|
NM_001013838.3(CARMIL2):c.540C>T (p.Asp180=)
|
rs745676569
|
0.00001
|
NM_001032221.6(STXBP1):c.902+10C>T
|
rs760108945
|
0.00001
|
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr)
|
rs772511386
|
0.00001
|
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu)
|
rs537596448
|
0.00001
|
NM_001035.3(RYR2):c.4359T>C (p.Tyr1453=)
|
rs1054102228
|
0.00001
|
NM_001035.3(RYR2):c.4755C>T (p.Arg1585=)
|
rs768562077
|
0.00001
|
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp)
|
rs768479701
|
0.00001
|
NM_001042432.2(CLN3):c.777G>A (p.Pro259=)
|
rs751443804
|
0.00001
|
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=)
|
rs876660737
|
0.00001
|
NM_001077350.3(NPRL3):c.1023C>T (p.Ser341=)
|
rs781712669
|
0.00001
|
NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys)
|
rs752468331
|
0.00001
|
NM_001080467.3(MYO5B):c.655C>T (p.Arg219Cys)
|
rs755378266
|
0.00001
|
NM_001083116.3(PRF1):c.260G>A (p.Arg87His)
|
rs557951406
|
0.00001
|
NM_001103.4(ACTN2):c.1256-13A>T
|
rs778085872
|
0.00001
|
NM_001103.4(ACTN2):c.1656+16C>T
|
rs1659326562
|
0.00001
|
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His)
|
rs533267299
|
0.00001
|
NM_001103.4(ACTN2):c.616-3C>T
|
rs111464645
|
0.00001
|
NM_001105206.3(LAMA4):c.1778A>G (p.His593Arg)
|
rs751004946
|
0.00001
|
NM_001105206.3(LAMA4):c.2057-2A>T
|
rs1780342227
|
0.00001
|
NM_001105206.3(LAMA4):c.3109C>T (p.Arg1037Ter)
|
rs782727584
|
0.00001
|
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser)
|
rs542157463
|
0.00001
|
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser)
|
rs781993685
|
0.00001
|
NM_001110556.2(FLNA):c.696G>A (p.Ala232=)
|
rs781907486
|
0.00001
|
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg)
|
rs757792232
|
0.00001
|
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=)
|
rs751700486
|
0.00001
|
NM_001130144.3(LTBP3):c.2913C>T (p.Cys971=)
|
rs559704168
|
0.00001
|
NM_001130987.2(DYSF):c.3928-12G>C
|
rs1322835903
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser)
|
rs1371567866
|
0.00001
|
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys)
|
rs535839168
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val)
|
rs1266240114
|
0.00001
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
NM_001267550.2(TTN):c.104082A>G (p.Ser34694=)
|
rs1413571023
|
0.00001
|
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met)
|
rs56001826
|
0.00001
|
NM_001267550.2(TTN):c.1168G>A (p.Gly390Ser)
|
rs794729412
|
0.00001
|
NM_001267550.2(TTN):c.1292C>T (p.Ala431Val)
|
rs1417215136
|
0.00001
|
NM_001267550.2(TTN):c.16179T>A (p.Asp5393Glu)
|
rs768837104
|
0.00001
|
NM_001267550.2(TTN):c.30492G>T (p.Glu10164Asp)
|
rs1064797276
|
0.00001
|
NM_001267550.2(TTN):c.39128-16A>G
|
rs769738352
|
0.00001
|
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His)
|
rs750520224
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=)
|
rs567251026
|
0.00001
|
NM_001267550.2(TTN):c.55432+19G>A
|
rs1213547538
|
0.00001
|
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter)
|
rs1192054216
|
0.00001
|
NM_001267550.2(TTN):c.62219A>T (p.Glu20740Val)
|
rs559490402
|
0.00001
|
NM_001267550.2(TTN):c.6383G>C (p.Trp2128Ser)
|
rs751340835
|
0.00001
|
NM_001267550.2(TTN):c.64443G>A (p.Gly21481=)
|
rs747850027
|
0.00001
|
NM_001267550.2(TTN):c.66780G>C (p.Glu22260Asp)
|
rs574543857
|
0.00001
|
NM_001267550.2(TTN):c.66820C>T (p.Arg22274Cys)
|
rs770627108
|
0.00001
|
NM_001267550.2(TTN):c.68484del (p.Lys22828fs)
|
rs1370805955
|
0.00001
|
NM_001267550.2(TTN):c.70854A>G (p.Glu23618=)
|
rs768115158
|
0.00001
|
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)
|
rs397517691
|
0.00001
|
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=)
|
rs189187431
|
0.00001
|
NM_001267550.2(TTN):c.84225T>C (p.Ser28075=)
|
rs753003337
|
0.00001
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile)
|
rs774609232
|
0.00001
|
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)
|
rs776065839
|
0.00001
|
NM_001267550.2(TTN):c.93154G>A (p.Val31052Met)
|
rs764170998
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr)
|
rs751714990
|
0.00001
|
NM_001267550.2(TTN):c.96566A>T (p.Glu32189Val)
|
rs1002475776
|
0.00001
|
NM_001267550.2(TTN):c.97192+6G>A
|
rs367760700
|
0.00001
|
NM_001270508.2(TNFAIP3):c.2269C>A (p.Pro757Thr)
|
rs771436999
|
0.00001
|
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)
|
rs746492909
|
0.00001
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)
|
rs754037135
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_001287.6(CLCN7):c.2330A>G (p.Gln777Arg)
|
rs2038658229
|
0.00001
|
NM_001323289.2(CDKL5):c.1613C>T (p.Thr538Met)
|
rs1413837885
|
0.00001
|
NM_001365536.1(SCN9A):c.4668C>A (p.Ile1556=)
|
rs771245206
|
0.00001
|
NM_001375834.1(WIPF1):c.231C>T (p.Gly77=)
|
rs772302114
|
0.00001
|
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)
|
rs749339938
|
0.00001
|
NM_001379150.1(IRS4):c.1523A>G (p.Asn508Ser)
|
rs769725218
|
0.00001
|
NM_001384732.1(CPLANE1):c.9669C>T (p.Leu3223=)
|
rs571665485
|
0.00001
|
NM_001386795.1(DTNA):c.1007C>T (p.Pro336Leu)
|
rs1293106380
|
0.00001
|
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val)
|
rs534407127
|
0.00001
|
NM_001458.5(FLNC):c.4728C>T (p.Val1576=)
|
rs1222823077
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001927.4(DES):c.66G>A (p.Pro22=)
|
rs767502653
|
0.00001
|
NM_001927.4(DES):c.79G>A (p.Gly27Ser)
|
rs727504877
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)
|
rs762526848
|
0.00001
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
NM_001943.5(DSG2):c.3027A>G (p.Gln1009=)
|
rs1383834116
|
0.00001
|
NM_001943.5(DSG2):c.445G>A (p.Val149Ile)
|
rs372606274
|
0.00001
|
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)
|
rs770921270
|
0.00001
|
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=)
|
rs941219425
|
0.00001
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
NM_002230.4(JUP):c.1667T>C (p.Met556Thr)
|
rs781884735
|
0.00001
|
NM_002230.4(JUP):c.1925-19T>G
|
rs545000698
|
0.00001
|
NM_002230.4(JUP):c.335A>G (p.Asn112Ser)
|
rs372364561
|
0.00001
|
NM_002230.4(JUP):c.374C>T (p.Ser125Leu)
|
rs782527770
|
0.00001
|
NM_002317.7(LOX):c.643C>T (p.Leu215=)
|
rs992964699
|
0.00001
|
NM_002354.3(EPCAM):c.307G>A (p.Gly103Arg)
|
rs1346393896
|
0.00001
|
NM_002397.5(MEF2C):c.798G>A (p.Thr266=)
|
rs761222463
|
0.00001
|
NM_002471.4(MYH6):c.1545C>T (p.Gly515=)
|
rs200235378
|
0.00001
|
NM_002471.4(MYH6):c.5407G>C (p.Glu1803Gln)
|
rs768893054
|
0.00001
|
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys)
|
rs760353963
|
0.00001
|
NM_002474.3(MYH11):c.1402-12C>G
|
rs769036516
|
0.00001
|
NM_002474.3(MYH11):c.3294-10del
|
rs756946356
|
0.00001
|
NM_002524.5(NRAS):c.450+12C>T
|
rs749906475
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002880.4(RAF1):c.1051C>T (p.Leu351=)
|
rs1478388712
|
0.00001
|
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003052.5(SLC34A1):c.1006+1G>A
|
rs200095793
|
0.00001
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
0.00001
|
NM_003098.3(SNTA1):c.497-5A>G
|
rs202178576
|
0.00001
|
NM_003190.5(TAPBP):c.1014C>T (p.Gly338=)
|
rs749398191
|
0.00001
|
NM_003283.6(TNNT1):c.309+1G>A
|
rs149559898
|
0.00001
|
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met)
|
rs758947977
|
0.00001
|
NM_003611.3(OFD1):c.2136C>T (p.Asp712=)
|
rs775705991
|
0.00001
|
NM_004006.3(DMD):c.3937A>G (p.Met1313Val)
|
rs794729003
|
0.00001
|
NM_004006.3(DMD):c.9291C>T (p.Asp3097=)
|
rs796934165
|
0.00001
|
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr)
|
rs770678896
|
0.00001
|
NM_004281.4(BAG3):c.828G>A (p.Arg276=)
|
rs752538980
|
0.00001
|
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys)
|
rs767223665
|
0.00001
|
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)
|
rs1060500615
|
0.00001
|
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala)
|
rs1327599046
|
0.00001
|
NM_004415.4(DSP):c.6423C>A (p.Val2141=)
|
rs1455331228
|
0.00001
|
NM_004415.4(DSP):c.6930A>G (p.Leu2310=)
|
rs1759552189
|
0.00001
|
NM_004415.4(DSP):c.695G>A (p.Arg232His)
|
rs749438581
|
0.00001
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
NM_004484.4(GPC3):c.1033-4249C>A
|
rs76180513
|
0.00001
|
NM_004517.4(ILK):c.721C>T (p.Arg241Trp)
|
rs765298592
|
0.00001
|
NM_004715.5(CTDP1):c.1723A>G (p.Ser575Gly)
|
rs779827748
|
0.00001
|
NM_004946.3(DOCK2):c.5262C>T (p.Ala1754=)
|
rs757478455
|
0.00001
|
NM_004958.4(MTOR):c.1500T>C (p.Asp500=)
|
rs533405069
|
0.00001
|
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys)
|
rs121909668
|
0.00001
|
NM_005045.4(RELN):c.5100G>A (p.Glu1700=)
|
rs1293123413
|
0.00001
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
NM_005120.3(MED12):c.6045-5T>C
|
rs1294743596
|
0.00001
|
NM_005159.5(ACTC1):c.447T>C (p.Arg149=)
|
rs1315206069
|
0.00001
|
NM_005159.5(ACTC1):c.617-7T>C
|
rs750536667
|
0.00001
|
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)
|
rs727505179
|
0.00001
|
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=)
|
rs782322654
|
0.00001
|
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg)
|
rs794727637
|
0.00001
|
NM_005751.5(AKAP9):c.7788G>A (p.Glu2596=)
|
rs777561134
|
0.00001
|
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)
|
rs13447332
|
0.00001
|
NM_006231.4(POLE):c.1656C>T (p.Phe552=)
|
rs1555228270
|
0.00001
|
NM_006231.4(POLE):c.3651C>T (p.Leu1217=)
|
rs765445494
|
0.00001
|
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser)
|
rs775720873
|
0.00001
|
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)
|
rs104894093
|
0.00001
|
NM_006950.3(SYN1):c.450T>G (p.Asp150Glu)
|
rs1482229221
|
0.00001
|
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr)
|
rs879218802
|
0.00001
|
NM_007078.3(LDB3):c.2091C>T (p.Cys697=)
|
rs571356142
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu)
|
rs876660005
|
0.00001
|
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)
|
rs80357486
|
0.00001
|
NM_007294.4(BRCA1):c.4764T>C (p.Ala1588=)
|
rs753651115
|
0.00001
|
NM_007294.4(BRCA1):c.5406+65A>C
|
rs1325470549
|
0.00001
|
NM_013266.4(CTNNA3):c.1351C>T (p.His451Tyr)
|
rs1844757301
|
0.00001
|
NM_013266.4(CTNNA3):c.451G>T (p.Val151Leu)
|
rs1418212392
|
0.00001
|
NM_013266.4(CTNNA3):c.889C>T (p.Arg297Ter)
|
rs771161312
|
0.00001
|
NM_014000.3(VCL):c.1298G>A (p.Arg433His)
|
rs754046223
|
0.00001
|
NM_014000.3(VCL):c.1681A>G (p.Arg561Gly)
|
rs1321164216
|
0.00001
|
NM_014000.3(VCL):c.2285G>A (p.Arg762Gln)
|
rs540039788
|
0.00001
|
NM_014000.3(VCL):c.2848G>A (p.Glu950Lys)
|
rs1174019524
|
0.00001
|
NM_014000.3(VCL):c.3154-6C>T
|
rs371257509
|
0.00001
|
NM_014000.3(VCL):c.539A>G (p.Gln180Arg)
|
rs1841681941
|
0.00001
|
NM_014000.3(VCL):c.689G>A (p.Arg230His)
|
rs749628307
|
0.00001
|
NM_014000.3(VCL):c.875-5T>C
|
rs1225977039
|
0.00001
|
NM_014055.4(IFT81):c.1617C>T (p.Leu539=)
|
rs747127910
|
0.00001
|
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe)
|
rs397517251
|
0.00001
|
NM_015450.3(POT1):c.916A>G (p.Ile306Val)
|
rs1415345156
|
0.00001
|
NM_015474.4(SAMHD1):c.626-5T>C
|
rs768848252
|
0.00001
|
NM_015910.7(WDPCP):c.541C>T (p.Gln181Ter)
|
rs749286148
|
0.00001
|
NM_016203.4(PRKAG2):c.253C>T (p.Pro85Ser)
|
rs754570613
|
0.00001
|
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)
|
rs750169914
|
0.00001
|
NM_017668.3(NDE1):c.948-39G>A
|
rs571613839
|
0.00001
|
NM_018055.5(NODAL):c.1021G>A (p.Val341Met)
|
rs751176757
|
0.00001
|
NM_020297.4(ABCC9):c.2324C>A (p.Pro775His)
|
rs796559062
|
0.00001
|
NM_020297.4(ABCC9):c.842G>A (p.Arg281Gln)
|
rs753456211
|
0.00001
|
NM_020433.5(JPH2):c.1293G>A (p.Pro431=)
|
rs2072193158
|
0.00001
|
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser)
|
rs1021631118
|
0.00001
|
NM_020529.3(NFKBIA):c.847A>T (p.Ser283Cys)
|
rs989569540
|
0.00001
|
NM_020774.4(MIB1):c.1372-12T>A
|
rs772089721
|
0.00001
|
NM_020774.4(MIB1):c.2307A>G (p.Arg769=)
|
rs374946957
|
0.00001
|
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=)
|
rs188837127
|
0.00001
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr)
|
rs202099742
|
0.00001
|
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser)
|
rs767916602
|
0.00001
|
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)
|
rs562700595
|
0.00001
|
NM_024422.6(DSC2):c.2104T>C (p.Leu702=)
|
rs753742489
|
0.00001
|
NM_024426.6(WT1):c.1568G>A (p.Ter523=)
|
rs148856160
|
0.00001
|
NM_024426.6(WT1):c.468G>T (p.Pro156=)
|
rs961309280
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024928.5(STN1):c.283G>A (p.Glu95Lys)
|
rs1389781569
|
0.00001
|
NM_031407.7(HUWE1):c.754G>A (p.Asp252Asn)
|
rs782531338
|
0.00001
|
NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=)
|
rs372228779
|
0.00001
|
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)
|
rs121434508
|
0.00001
|
NM_032588.4(TRIM63):c.644C>T (p.Thr215Met)
|
rs537877132
|
0.00001
|
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala)
|
rs118203967
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr)
|
rs1338886488
|
0.00001
|
NM_144573.4(NEXN):c.66T>C (p.Tyr22=)
|
rs749182975
|
0.00001
|
NM_144596.4(TTC8):c.624+1G>A
|
rs587777808
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1728C>T (p.Pro576=)
|
rs767783294
|
0.00001
|
NM_170707.4(LMNA):c.1785C>T (p.Ala595=)
|
rs748139390
|
0.00001
|
NM_170707.4(LMNA):c.1969-4T>C
|
rs751715969
|
0.00001
|
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
|
rs59026483
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter)
|
rs121913161
|
0.00001
|
NM_181507.2(HPS5):c.1960A>T (p.Lys654Ter)
|
rs1179872960
|
0.00001
|
NM_182961.4(SYNE1):c.2685G>A (p.Thr895=)
|
rs754176545
|
0.00001
|
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)
|
rs121909715
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter)
|
rs766657895
|
0.00001
|
NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter)
|
rs1555152650
|
|
NM_000026.4(ADSL):c.357+7G>T
|
rs199993991
|
|
NM_000043.6(FAS):c.749G>A (p.Arg250Gln)
|
rs121913080
|
|
NM_000043.6(FAS):c.749G>C (p.Arg250Pro)
|
rs121913080
|
|
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[26] (p.Gln78_Gln80dup)
|
rs3032358
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)
|
rs587778068
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)
|
rs766706861
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)
|
rs104894760
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
NM_000059.4(BRCA2):c.3074AGA[3] (p.Lys1026dup)
|
rs1342774938
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.4130A>T (p.Asn1377Ile)
|
rs749624669
|
|
NM_000059.4(BRCA2):c.4206T>C (p.Asn1402=)
|
rs878853580
|
|
NM_000059.4(BRCA2):c.425+22A>G
|
rs2137447215
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro)
|
rs730881538
|
|
NM_000059.4(BRCA2):c.596C>T (p.Ala199Val)
|
rs878853593
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser)
|
rs80358930
|
|
NM_000059.4(BRCA2):c.7388A>T (p.Asn2463Ile)
|
rs1593918551
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter)
|
rs886041149
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
NM_000064.4(C3):c.4350+6G>C
|
rs369993135
|
|
NM_000064.4(C3):c.4645C>A (p.Leu1549Met)
|
rs149202905
|
|
NM_000064.4(C3):c.481C>T (p.Arg161Trp)
|
rs776423109
|
|
NM_000066.4(C8B):c.255G>A (p.Arg85=)
|
rs530181040
|
|
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)
|
rs35534614
|
|
NM_000081.4(LYST):c.5922+10A>G
|
rs375422713
|
|
NM_000081.4(LYST):c.9785-21_9785-17del
|
rs547173744
|
|
NM_000090.4(COL3A1):c.753del (p.Gly252fs)
|
rs2153501973
|
|
NM_000091.5(COL4A3):c.2881G>C (p.Gly961Arg)
|
rs1285576172
|
|
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp)
|
rs1014839148
|
|
NM_000092.5(COL4A4):c.1848del (p.Pro617fs)
|
rs2150476941
|
|
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp)
|
rs2150277040
|
|
NM_000092.5(COL4A4):c.2833G>T (p.Gly945Ter)
|
rs1303057809
|
|
NM_000092.5(COL4A4):c.4334-3del
|
rs780415519
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
NM_000093.5(COL5A1):c.1936-16C>G
|
rs199694949
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del)
|
rs773994971
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000116.5(TAFAZZIN):c.324A>G (p.Leu108=)
|
rs2068387204
|
|
NM_000117.3(EMD):c.212C>T (p.Ala71Val)
|
rs2148128318
|
|
NM_000132.4(F8):c.1910A>G (p.Asn637Ser)
|
rs2073315379
|
|
NM_000132.4(F8):c.2440C>T (p.Arg814Ter)
|
rs137852437
|
|
NM_000132.4(F8):c.5399G>A (p.Arg1800His)
|
rs137852442
|
|
NM_000132.4(F8):c.541G>A (p.Val181Met)
|
rs137852394
|
|
NM_000132.4(F8):c.6754G>C (p.Asp2252His)
|
rs2072683196
|
|
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg)
|
rs137852470
|
|
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)
|
rs137852472
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)
|
rs754992689
|
|
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=)
|
rs1597507799
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000143.4(FH):c.1210G>T (p.Glu404Ter)
|
rs797044974
|
|
NM_000143.4(FH):c.1237-50TC[18]
|
rs144131869
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)
|
rs876661269
|
|
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)
|
rs104894834
|
|
NM_000169.3(GLA):c.53T>C (p.Phe18Ser)
|
rs2147487622
|
|
NM_000169.3(GLA):c.658C>T (p.Arg220Ter)
|
rs727503949
|
|
NM_000169.3(GLA):c.921C>G (p.Ala307=)
|
rs2147472055
|
|
NM_000169.3(GLA):c.956T>C (p.Ile319Thr)
|
rs2147471929
|
|
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg)
|
rs1554648060
|
|
NM_000173.7(GP1BA):c.1305C>T (p.Thr435=)
|
rs761456793
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000186.4(CFH):c.2783-3del
|
rs748791414
|
|
NM_000208.4(INSR):c.653-23TC[11]
|
rs3835070
|
|
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His)
|
rs149659118
|
|
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly)
|
rs2122623598
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg)
|
rs199472774
|
|
NM_000218.3(KCNQ1):c.1320C>G (p.Val440=)
|
rs781151116
|
|
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)
|
rs199472687
|
|
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)
|
rs199473662
|
|
NM_000238.4(KCNH2):c.260T>C (p.Leu87Pro)
|
rs199473495
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)
|
rs121913670
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)
|
rs63750489
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)
|
rs886037900
|
|
NM_000256.3(MYBPC3):c.149G>A (p.Ser50Asn)
|
rs2142869623
|
|
NM_000256.3(MYBPC3):c.1586C>A (p.Thr529Asn)
|
rs397515911
|
|
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)
|
rs730880695
|
|
NM_000256.3(MYBPC3):c.1791-1G>A
|
rs2142859427
|
|
NM_000256.3(MYBPC3):c.2013C>T (p.Val671=)
|
rs1168755518
|
|
NM_000256.3(MYBPC3):c.2749del (p.Val917fs)
|
rs2142853029
|
|
NM_000256.3(MYBPC3):c.3142C>A (p.Arg1048Ser)
|
rs11570113
|
|
NM_000256.3(MYBPC3):c.3257_3258dup (p.Lys1087fs)
|
rs2142850930
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3416T>C (p.Val1139Ala)
|
rs2142850291
|
|
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)
|
rs786204329
|
|
NM_000256.3(MYBPC3):c.852-20C>A
|
rs371941585
|
|
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)
|
rs193922386
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1291G>C (p.Val431Leu)
|
rs606231322
|
|
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala)
|
rs1244840759
|
|
NM_000257.4(MYH7):c.1436A>C (p.Asn479Thr)
|
rs727504236
|
|
NM_000257.4(MYH7):c.1578+13C>T
|
rs1178580158
|
|
NM_000257.4(MYH7):c.1823T>C (p.Leu608Ser)
|
rs2138671995
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)
|
rs2069544
|
|
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)
|
rs397516165
|
|
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val)
|
rs727504558
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
|
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)
|
rs730880792
|
|
NM_000257.4(MYH7):c.4327G>A (p.Asp1443Asn)
|
rs2138646412
|
|
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly)
|
rs1351712658
|
|
NM_000257.4(MYH7):c.4853T>C (p.Met1618Thr)
|
rs1257400566
|
|
NM_000257.4(MYH7):c.495G>A (p.Met165Ile)
|
rs1555338758
|
|
NM_000257.4(MYH7):c.5368A>G (p.Ile1790Val)
|
rs2138638553
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln)
|
rs730880822
|
|
NM_000257.4(MYH7):c.5754C>G (p.Asn1918Lys)
|
rs138110910
|
|
NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly)
|
rs755706526
|
|
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser)
|
rs886038844
|
|
NM_000258.3(MYL3):c.421G>A (p.Asp141Asn)
|
rs1483805765
|
|
NM_000265.7(NCF1):c.936C>T (p.His312=)
|
rs587594457
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
NM_000271.5(NPC1):c.1947+10G>A
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+8_1947+12dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8_1947+9dup
|
rs3837910
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter)
|
rs1845412705
|
|
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu)
|
rs137852288
|
|
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2584del (p.Ala862fs)
|
rs2110150747
|
|
NM_000297.4(PKD2):c.290AGG[5] (p.Glu102del)
|
rs750077647
|
|
NM_000297.4(PKD2):c.710-2A>G
|
rs2110104722
|
|
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly)
|
rs922997919
|
|
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly)
|
rs758340382
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000310.4(PPT1):c.627+4A>G
|
rs572153728
|
|
NM_000334.4(SCN4A):c.483-5C>A
|
rs191547933
|
|
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs)
|
rs2125881165
|
|
NM_000335.5(SCN5A):c.3213G>A (p.Glu1071=)
|
rs531062263
|
|
NM_000335.5(SCN5A):c.327C>T (p.Asn109=)
|
rs199473056
|
|
NM_000335.5(SCN5A):c.3370G>T (p.Ala1124Ser)
|
rs796070621
|
|
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)
|
rs199473062
|
|
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met)
|
rs199473297
|
|
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu)
|
rs199473629
|
|
NM_000335.5(SCN5A):c.726C>T (p.Ala242=)
|
rs746812420
|
|
NM_000342.4(SLC4A1):c.37G>T (p.Glu13Ter)
|
rs2144625139
|
|
NM_000363.5(TNNI3):c.373-4C>T
|
rs2288530
|
|
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)
|
rs1060499912
|
|
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala)
|
rs730881083
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
NM_000383.4(AIRE):c.799-17G>A
|
rs72650675
|
|
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)
|
rs1800520
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000391.4(TPP1):c.1142C>G (p.Ser381Cys)
|
rs1241569976
|
|
NM_000417.3(IL2RA):c.76G>C (p.Asp26His)
|
rs55868253
|
|
NM_000431.4(MVK):c.185G>A (p.Trp62Ter)
|
rs104895306
|
|
NM_000431.4(MVK):c.925G>A (p.Gly309Ser)
|
rs104895305
|
|
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His)
|
rs1810212221
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000458.4(HNF1B):c.345-4C>T
|
rs200590728
|
|
NM_000458.4(HNF1B):c.544+1G>A
|
|
|
NM_000483.5(APOC2):c.195C>A (p.Pro65=)
|
rs145771233
|
|
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)
|
rs2082658031
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.5787-24GTTT[4]
|
rs782072699
|
|
NM_000490.5(AVP):c.260C>A (p.Ser87Tyr)
|
rs121964890
|
|
NM_000490.5(AVP):c.346T>G (p.Cys116Gly)
|
rs74315383
|
|
NM_000490.5(AVP):c.55G>A (p.Ala19Thr)
|
rs387906511
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000501.4(ELN):c.1269C>G (p.Val423=)
|
rs61734583
|
|
NM_000501.4(ELN):c.134-7C>A
|
rs782721415
|
|
NM_000501.4(ELN):c.1778C>A (p.Ala593Asp)
|
rs1796553212
|
|
NM_000501.4(ELN):c.483C>A (p.Pro161=)
|
rs150690195
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_000516.7(GNAS):c.531-13_531-10del
|
rs576071932
|
|
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn)
|
rs1054487
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)
|
rs886044196
|
|
NM_000540.3(RYR1):c.7445-13T>A
|
rs1600825341
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)
|
rs5030826
|
|
NM_000551.4(VHL):c.340+1G>A
|
rs730882032
|
|
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)
|
rs5030830
|
|
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)
|
rs869025642
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
NM_000551.4(VHL):c.497T>C (p.Val166Ala)
|
rs397516445
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000551.4(VHL):c.509T>A (p.Val170Asp)
|
rs864321642
|
|
NM_000552.5(VWF):c.2435del (p.Pro812fs)
|
rs62643632
|
|
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)
|
rs61750069
|
|
NM_000569.8(FCGR3A):c.32T>A (p.Leu11Gln)
|
rs371773367
|
|
NM_000574.5(CD55):c.155G>C (p.Arg52Pro)
|
rs28371588
|
|
NM_000593.6(TAP1):c.955A>C (p.Ile319Leu)
|
rs748668600
|
|
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met)
|
rs768088341
|
|
NM_000702.4(ATP1A2):c.1652-7C>A
|
rs200102433
|
|
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)
|
rs786205753
|
|
NM_000719.7(CACNA1C):c.3050A>G (p.His1017Arg)
|
rs2153426949
|
|
NM_000719.7(CACNA1C):c.3712A>G (p.Met1238Val)
|
rs2077233710
|
|
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys)
|
rs2153891904
|
|
NM_000722.4(CACNA2D1):c.3160-9del
|
rs367960608
|
|
NM_000722.4(CACNA2D1):c.659-23CT[2]
|
rs66474649
|
|
NM_000733.4(CD3E):c.211G>C (p.Asp71His)
|
rs148647954
|
|
NM_000789.4(ACE):c.2673_2674dup (p.Tyr892fs)
|
rs2030333357
|
|
NM_000789.4(ACE):c.870G>A (p.Trp290Ter)
|
rs2147530850
|
|
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)
|
rs797044849
|
|
NM_000939.4(POMC):c.394C>G (p.Pro132Ala)
|
rs8192606
|
|
NM_001003841.3(SLC6A19):c.1173+2T>G
|
rs142979576
|
|
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)
|
rs397516989
|
|
NM_001005242.3(PKP2):c.1379-2114G>A
|
rs2137838518
|
|
NM_001005242.3(PKP2):c.2357+4A>C
|
rs1064793905
|
|
NM_001005242.3(PKP2):c.834G>T (p.Gln278His)
|
rs1956949832
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001006658.3(CR2):c.624C>A (p.Pro208=)
|
rs61759494
|
|
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)
|
rs968974699
|
|
NM_001009944.3(PKD1):c.10602G>A (p.Ala3534=)
|
rs572474052
|
|
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)
|
rs1320867301
|
|
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro)
|
rs757055929
|
|
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)
|
rs144200494
|
|
NM_001009944.3(PKD1):c.4654GTC[1] (p.Val1553del)
|
rs1362745259
|
|
NM_001009944.3(PKD1):c.5622G>A (p.Trp1874Ter)
|
rs2151792322
|
|
NM_001009944.3(PKD1):c.7120A>T (p.Lys2374Ter)
|
rs2151776957
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter)
|
rs2151772321
|
|
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del)
|
rs1358948221
|
|
NM_001010874.5(TECRL):c.552-13dup
|
rs577970051
|
|
NM_001012339.3(DNAJC21):c.1193A>G (p.Asp398Gly)
|
rs934565737
|
|
NM_001018005.2(TPM1):c.591G>A (p.Leu197=)
|
rs2140963657
|
|
NM_001018005.2(TPM1):c.607A>G (p.Asn203Asp)
|
rs1555409523
|
|
NM_001018005.2(TPM1):c.832C>G (p.Leu278Val)
|
rs730881161
|
|
NM_001018005.2(TPM1):c.851+5dup
|
rs2036008903
|
|
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)
|
rs1555841301
|
|
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)
|
rs104893991
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)
|
rs796053356
|
|
NM_001032221.6(STXBP1):c.579-2A>G
|
rs112111568
|
|
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)
|
rs796053359
|
|
NM_001034850.3(RETREG1):c.18T>G (p.Pro6=)
|
rs773314283
|
|
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)
|
rs1401116572
|
|
NM_001035.3(RYR2):c.1293-14A>G
|
rs752527636
|
|
NM_001035.3(RYR2):c.13956+9_13956+12del
|
rs2149392567
|
|
NM_001035.3(RYR2):c.1395C>A (p.Pro465=)
|
rs111990043
|
|
NM_001035.3(RYR2):c.14217del (p.Phe4739fs)
|
rs749201569
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
NM_001035.3(RYR2):c.473G>A (p.Cys158Tyr)
|
rs2149792694
|
|
NM_001035.3(RYR2):c.8643G>A (p.Glu2881=)
|
rs749903392
|
|
NM_001039569.2(AP1S3):c.3+8C>A
|
rs758275363
|
|
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg)
|
rs111588143
|
|
NM_001040142.2(SCN2A):c.2016+6G>T
|
rs748611550
|
|
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro)
|
rs796053116
|
|
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)
|
rs1057520413
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=)
|
rs148484744
|
|
NM_001042413.2(GLIS3):c.2656+8G>C
|
rs1817905872
|
|
NM_001042413.2(GLIS3):c.844C>G (p.Pro282Ala)
|
rs143051164
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001065.4(TNFRSF1A):c.151C>T (p.His51Tyr)
|
rs104895227
|
|
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)
|
rs368981218
|
|
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)
|
rs2076985517
|
|
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter)
|
rs2045524028
|
|
NM_001080517.3(SETD5):c.3520C>T (p.Arg1174Ter)
|
rs1559496157
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr)
|
rs41301097
|
|
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=)
|
rs552340151
|
|
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val)
|
rs1568303352
|
|
NM_001085377.2(MCC):c.71_72insGGCAGCAGC (p.Ser24delinsArgAlaAlaAla)
|
rs2150439379
|
|
NM_001099857.5(IKBKG):c.1056-16G>C
|
rs1557236756
|
|
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)
|
rs137853322
|
|
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)
|
rs772766102
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp)
|
rs199604590
|
|
NM_001103.4(ACTN2):c.1512A>G (p.Leu504=)
|
rs2102934725
|
|
NM_001103.4(ACTN2):c.1741G>A (p.Glu581Lys)
|
rs1398504608
|
|
NM_001103.4(ACTN2):c.343G>C (p.Val115Leu)
|
rs397516579
|
|
NM_001105206.3(LAMA4):c.1176_1177insT (p.Asp393Ter)
|
rs2114895179
|
|
NM_001105206.3(LAMA4):c.2475C>G (p.Thr825=)
|
rs189313630
|
|
NM_001105206.3(LAMA4):c.3296G>T (p.Arg1099Ile)
|
rs1779337380
|
|
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His)
|
rs150662822
|
|
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=)
|
rs782308141
|
|
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001111125.3(IQSEC2):c.1402-15dup
|
rs781861463
|
|
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser)
|
rs1556862958
|
|
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)
|
rs863223532
|
|
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys)
|
rs1255912441
|
|
NM_001114753.3(ENG):c.67+1G>A
|
rs1554813783
|
|
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)
|
rs201311000
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)
|
rs539546830
|
|
NM_001128148.3(TFRC):c.1038T>C (p.Phe346=)
|
rs201264476
|
|
NM_001128164.2(ATXN1):c.636GCA[15] (p.Gln225dup)
|
rs751421308
|
|
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=)
|
rs36061665
|
|
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup)
|
rs71036212
|
|
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup)
|
rs71036212
|
|
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del)
|
rs71036212
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
NM_001134363.3(RBM20):c.146A>C (p.Gln49Pro)
|
rs1554886578
|
|
NM_001134363.3(RBM20):c.150A>C (p.Pro50=)
|
rs376936285
|
|
NM_001134363.3(RBM20):c.1527+18T>G
|
rs2135051286
|
|
NM_001134363.3(RBM20):c.1528-1G>C
|
rs534513476
|
|
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)
|
rs796734066
|
|
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe)
|
rs397516608
|
|
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.3317-20C>T
|
rs202039414
|
|
NM_001134363.3(RBM20):c.665C>T (p.Ala222Val)
|
rs2135042487
|
|
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453
|
|
NM_001134673.4(NFIA):c.1413G>A (p.Thr471=)
|
rs146012018
|
|
NM_001142864.4(PIEZO1):c.4495+10_4495+14dup
|
rs567560285
|
|
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser)
|
rs763940836
|
|
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=)
|
rs369279313
|
|
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)
|
rs587776988
|
|
NM_001148.6(ANK2):c.5778G>A (p.Pro1926=)
|
rs754030532
|
|
NM_001159699.2(FHL1):c.737-3del
|
rs368428875
|
|
NM_001164508.2(NEB):c.1266T>A (p.Tyr422Ter)
|
rs2149360884
|
|
NM_001164508.2(NEB):c.14563T>C (p.Leu4855=)
|
rs2288217
|
|
NM_001164508.2(NEB):c.20467-4del
|
rs10687343
|
|
NM_001164508.2(NEB):c.20467-6_20467-4dup
|
rs10687343
|
|
NM_001164508.2(NEB):c.5032-13dup
|
rs148862132
|
|
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys)
|
rs193042896
|
|
NM_001165963.4(SCN1A):c.2177-11dup
|
rs11394960
|
|
NM_001165963.4(SCN1A):c.2589+19del
|
rs3032638
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
|
|
|
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)
|
rs139300715
|
|
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)
|
rs794726752
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter)
|
rs1555314911
|
|
NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr)
|
rs1749930972
|
|
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)
|
rs796052839
|
|
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)
|
rs1569315876
|
|
NM_001195553.2(DCX):c.540G>T (p.Lys180Asn)
|
rs1927758267
|
|
NM_001201550.3(CFHR4):c.1234C>A (p.Arg412=)
|
rs75774768
|
|
NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys)
|
rs727504510
|
|
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)
|
rs1569067939
|
|
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)
|
rs151344629
|
|
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)
|
rs121908146
|
|
NM_001243133.2(NLRP3):c.450A>G (p.Glu150=)
|
rs1194375582
|
|
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter)
|
rs121908150
|
|
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)
|
rs121908153
|
|
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=)
|
rs201861261
|
|
NM_001244008.2(KIF1A):c.4926C>T (p.Ala1642=)
|
rs376581099
|
|
NM_001250.6(CD40):c.57T>A (p.His19Gln)
|
rs1204102934
|
|
NM_001257180.2(SLC20A2):c.1158C>A (p.Tyr386Ter)
|
rs2131006757
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
NM_001267550.2(TTN):c.103132C>T (p.Gln34378Ter)
|
rs2154135182
|
|
NM_001267550.2(TTN):c.10433_10443del (p.Asn3478fs)
|
rs2154336089
|
|
NM_001267550.2(TTN):c.105428del (p.Gly35143fs)
|
rs886042825
|
|
NM_001267550.2(TTN):c.106793A>C (p.Gln35598Pro)
|
rs953569145
|
|
NM_001267550.2(TTN):c.11605G>C (p.Val3869Leu)
|
rs747929496
|
|
NM_001267550.2(TTN):c.13003GAA[1] (p.Glu4336del)
|
rs1481572021
|
|
NM_001267550.2(TTN):c.23674A>G (p.Ile7892Val)
|
rs2078060561
|
|
NM_001267550.2(TTN):c.23939-7del
|
rs796323548
|
|
NM_001267550.2(TTN):c.2775+19G>T
|
rs199707799
|
|
NM_001267550.2(TTN):c.2921del (p.Val974fs)
|
rs2154350102
|
|
NM_001267550.2(TTN):c.32554+5_32554+6del
|
rs771419718
|
|
NM_001267550.2(TTN):c.34175C>T (p.Pro11392Leu)
|
rs868108980
|
|
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr)
|
rs1405466072
|
|
NM_001267550.2(TTN):c.37029A>G (p.Pro12343=)
|
rs200163049
|
|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
|
NM_001267550.2(TTN):c.40603A>T (p.Lys13535Ter)
|
rs2154238618
|
|
NM_001267550.2(TTN):c.40634-15_40634-11del
|
rs375561641
|
|
NM_001267550.2(TTN):c.41329+1G>T
|
rs796238032
|
|
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter)
|
rs745926057
|
|
NM_001267550.2(TTN):c.42682+14A>C
|
rs2154225957
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
NM_001267550.2(TTN):c.47352T>G (p.Tyr15784Ter)
|
rs2057661952
|
|
NM_001267550.2(TTN):c.47805T>G (p.Ser15935=)
|
rs918631230
|
|
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter)
|
rs376188859
|
|
NM_001267550.2(TTN):c.50317G>A (p.Glu16773Lys)
|
rs879025295
|
|
NM_001267550.2(TTN):c.50793C>A (p.Val16931=)
|
rs2056308114
|
|
NM_001267550.2(TTN):c.50794A>T (p.Asn16932Tyr)
|
rs2056307677
|
|
NM_001267550.2(TTN):c.50923C>A (p.Pro16975Thr)
|
rs2154199573
|
|
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe)
|
rs397517603
|
|
NM_001267550.2(TTN):c.5209G>T (p.Glu1737Ter)
|
rs2154346241
|
|
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)
|
rs2154197219
|
|
NM_001267550.2(TTN):c.53918del (p.Gly17973fs)
|
rs1486129583
|
|
NM_001267550.2(TTN):c.54812-14del
|
rs770542364
|
|
NM_001267550.2(TTN):c.55393G>T (p.Ala18465Ser)
|
rs899078606
|
|
NM_001267550.2(TTN):c.57508G>T (p.Gly19170Ter)
|
rs750947988
|
|
NM_001267550.2(TTN):c.5780T>G (p.Leu1927Arg)
|
rs2154345987
|
|
NM_001267550.2(TTN):c.58433-16dup
|
rs758370659
|
|
NM_001267550.2(TTN):c.58433-7del
|
rs758370659
|
|
NM_001267550.2(TTN):c.59926+1G>A
|
rs553526525
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.62246del (p.Gly20749fs)
|
rs2154183801
|
|
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp)
|
rs763722868
|
|
NM_001267550.2(TTN):c.63505C>T (p.Leu21169=)
|
rs543686186
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter)
|
rs794729279
|
|
NM_001267550.2(TTN):c.63794-1G>A
|
rs2049262622
|
|
NM_001267550.2(TTN):c.64672+2T>C
|
rs2154180290
|
|
NM_001267550.2(TTN):c.64708del (p.Ser21570fs)
|
rs2048590205
|
|
NM_001267550.2(TTN):c.65042del (p.Asp21681fs)
|
rs2154179867
|
|
NM_001267550.2(TTN):c.67667del (p.Pro22556fs)
|
rs2154175408
|
|
NM_001267550.2(TTN):c.70560A>G (p.Pro23520=)
|
rs759355651
|
|
NM_001267550.2(TTN):c.71000G>A (p.Trp23667Ter)
|
rs865930770
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs)
|
rs1254650118
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter)
|
rs748619096
|
|
NM_001267550.2(TTN):c.7855+1G>T
|
rs746566745
|
|
NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter)
|
rs2154166071
|
|
NM_001267550.2(TTN):c.7907A>T (p.Glu2636Val)
|
rs1207371966
|
|
NM_001267550.2(TTN):c.80530del (p.Ser26844fs)
|
rs2154164929
|
|
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)
|
rs2154161716
|
|
NM_001267550.2(TTN):c.82309_82312dup (p.Asn27438delinsArgTer)
|
rs2154161683
|
|
NM_001267550.2(TTN):c.83062C>T (p.Arg27688Cys)
|
rs757441189
|
|
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter)
|
rs2154159874
|
|
NM_001267550.2(TTN):c.85809del (p.Lys28603fs)
|
rs796983799
|
|
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter)
|
rs794729298
|
|
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs)
|
rs1415420768
|
|
NM_001267550.2(TTN):c.8902+12_8902+13del
|
rs774238749
|
|
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)
|
rs200503016
|
|
NM_001267550.2(TTN):c.90298G>C (p.Glu30100Gln)
|
rs762287310
|
|
NM_001267550.2(TTN):c.91152T>A (p.Tyr30384Ter)
|
rs796635140
|
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
|
NM_001267550.2(TTN):c.92847C>G (p.Tyr30949Ter)
|
rs2154147680
|
|
NM_001267550.2(TTN):c.94032_94040dup (p.Val31346_Glu31347insAspIleVal)
|
rs1697753486
|
|
NM_001267550.2(TTN):c.95950A>G (p.Arg31984Gly)
|
rs2154144165
|
|
NM_001267550.2(TTN):c.97604T>C (p.Ile32535Thr)
|
rs2154141649
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
NM_001267550.2(TTN):c.98713G>A (p.Glu32905Lys)
|
rs763344306
|
|
NM_001267550.2(TTN):c.98990-1G>T
|
rs796111471
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
|
NM_001276345.2(TNNT2):c.42-6T>C
|
rs1660720268
|
|
NM_001276345.2(TNNT2):c.443A>G (p.Gln148Arg)
|
rs730880232
|
|
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)
|
rs397516470
|
|
NM_001276345.2(TNNT2):c.810+7C>A
|
rs373069229
|
|
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)
|
rs200930463
|
|
NM_001289808.2(CRYAB):c.167G>C (p.Arg56Pro)
|
rs781986102
|
|
NM_001289808.2(CRYAB):c.201+17C>G
|
rs782366958
|
|
NM_001290043.2(TAP2):c.983C>G (p.Ala328Gly)
|
rs148663600
|
|
NM_001291415.2(KDM6A):c.2859-5del
|
rs10605935
|
|
NM_001318777.2(TIRAP):c.286G>A (p.Asp96Asn)
|
rs8177400
|
|
NM_001318777.2(TIRAP):c.646+36T>G
|
rs373668992
|
|
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)
|
rs267606715
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys)
|
rs879255705
|
|
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
|
|
|
NM_001354930.2(RIPK1):c.1935G>A (p.Thr645=)
|
rs114183703
|
|
NM_001356.5(DDX3X):c.731C>G (p.Ser244Ter)
|
rs1275844963
|
|
NM_001358263.1(HK1):c.75+23del
|
rs111682217
|
|
NM_001364905.1(LRBA):c.1015-20dup
|
rs753223643
|
|
NM_001364905.1(LRBA):c.114G>T (p.Gly38=)
|
rs72721739
|
|
NM_001365088.1(SLC12A6):c.317-5del
|
rs747243268
|
|
NM_001365276.2(TNXB):c.3763C>G (p.Arg1255Gly)
|
rs376472382
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
NM_001365536.1(SCN9A):c.2467C>G (p.Leu823Val)
|
rs1029813878
|
|
NM_001365536.1(SCN9A):c.2874+12G>T
|
rs201188263
|
|
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu)
|
rs144285237
|
|
NM_001369.3(DNAH5):c.2578-9_2578-7del
|
rs71600031
|
|
NM_001370259.2(MEN1):c.1052A>G (p.Tyr351Cys)
|
rs2136111524
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
|
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser)
|
rs1387157979
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro)
|
rs2071240
|
|
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)
|
rs180177042
|
|
NM_001374736.1(DST):c.21676-15_21676-14del
|
rs540330544
|
|
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)
|
rs1554238072
|
|
NM_001375405.1(CEP120):c.1431-31dup
|
rs75744800
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
NM_001378454.1(ALMS1):c.10262del (p.Pro3421fs)
|
rs2104063769
|
|
NM_001378454.1(ALMS1):c.3197_3200del (p.Asp1066fs)
|
rs2103777977
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup)
|
rs756301830
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001379081.2(FREM1):c.2459C>T (p.Pro820Leu)
|
rs868815512
|
|
NM_001379110.1(SLC9A6):c.1582-3C>T
|
rs563279759
|
|
NM_001382567.1(STIM1):c.271-3C>T
|
rs561797617
|
|
NM_001388492.1(HTT):c.54GCA[26] (p.Gln32_Gln38dup)
|
rs71180116
|
|
NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=)
|
rs71180116
|
|
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)
|
rs770606675
|
|
NM_001458.5(FLNC):c.248_265dup (p.Pro88_Arg89insHisArgLysPheHisPro)
|
rs2128932214
|
|
NM_001458.5(FLNC):c.3259A>C (p.Thr1087Pro)
|
rs1272329612
|
|
NM_001458.5(FLNC):c.4418G>A (p.Gly1473Asp)
|
rs1174959724
|
|
NM_001458.5(FLNC):c.4456+1G>A
|
rs1318885805
|
|
NM_001458.5(FLNC):c.4925C>G (p.Thr1642Arg)
|
rs756074974
|
|
NM_001458.5(FLNC):c.5399-17C>T
|
rs930809365
|
|
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln)
|
rs1350832784
|
|
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu)
|
rs1350832784
|
|
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)
|
rs2128939508
|
|
NM_001458.5(FLNC):c.7334A>G (p.His2445Arg)
|
rs2128940144
|
|
NM_001458.5(FLNC):c.7372G>A (p.Glu2458Lys)
|
rs2128940160
|
|
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr)
|
rs201486752
|
|
NM_001458.5(FLNC):c.969+14G>T
|
rs765545958
|
|
NM_001543.5(NDST1):c.1749+8dup
|
rs528143978
|
|
NM_001555.5(IGSF1):c.1966G>A (p.Gly656Arg)
|
rs2124097454
|
|
NM_001605.3(AARS1):c.1737C>T (p.Ile579=)
|
rs144323646
|
|
NM_001626.6(AKT2):c.1110G>T (p.Pro370=)
|
rs41309435
|
|
NM_001643.2(APOA2):c.53-43TG[20]
|
rs17244502
|
|
NM_001692.4(ATP6V1B1):c.175-1G>C
|
rs1572919267
|
|
NM_001710.6(CFB):c.1524C>T (p.His508=)
|
rs138207668
|
|
NM_001723.7(DST):c.5892C>T (p.Thr1964=)
|
rs146263203
|
|
NM_001733.7(C1R):c.647C>G (p.Pro216Arg)
|
rs189155429
|
|
NM_001734.5(C1S):c.306A>G (p.Pro102=)
|
rs144939472
|
|
NM_001737.5(C9):c.162C>T (p.Cys54=)
|
rs34000044
|
|
NM_001743.6(CALM2):c.285+16G>C
|
rs3729963
|
|
NM_001814.6(CTSC):c.173-19dup
|
rs11326739
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
NM_001875.5(CPS1):c.3928-9_3928-8del
|
rs397703682
|
|
NM_001918.5(DBT):c.1282-4C>A
|
rs1410431336
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
NM_001927.4(DES):c.195C>T (p.Gly65=)
|
rs1256584430
|
|
NM_001927.4(DES):c.407T>C (p.Leu136Pro)
|
rs397516695
|
|
NM_001927.4(DES):c.725T>A (p.Val242Glu)
|
rs794728984
|
|
NM_001927.4(DES):c.735+14C>T
|
rs2125167702
|
|
NM_001927.4(DES):c.802C>G (p.Pro268Ala)
|
rs1434613160
|
|
NM_001927.4(DES):c.816dup (p.Ala273fs)
|
rs2125167896
|
|
NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del)
|
rs60216939
|
|
NM_001943.5(DSG2):c.2796T>C (p.Asn932=)
|
rs2073307337
|
|
NM_001943.5(DSG2):c.523+23_523+24del
|
rs77324780
|
|
NM_001943.5(DSG2):c.829-15G>C
|
rs2144322515
|
|
NM_001961.4(EEF2):c.1011+17G>A
|
rs190562397
|
|
NM_001999.4(FBN2):c.1826C>G (p.Thr609Ser)
|
rs2126958666
|
|
NM_001999.4(FBN2):c.4472-12del
|
rs758812755
|
|
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_002087.4(GRN):c.99C>T (p.Asp33=)
|
rs63750742
|
|
NM_002133.3(HMOX1):c.709C>G (p.Arg237Gly)
|
rs145427664
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002184.4(IL6ST):c.658+5dup
|
rs530599601
|
|
NM_002227.4(JAK1):c.414C>T (p.Tyr138=)
|
rs35237903
|
|
NM_002230.4(JUP):c.633C>A (p.Asn211Lys)
|
rs372145644
|
|
NM_002230.4(JUP):c.809T>G (p.Leu270Arg)
|
rs794729040
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu)
|
rs139069413
|
|
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
|
rs104894858
|
|
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)
|
rs72555376
|
|
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)
|
rs72610640
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
NM_002448.3(MSX1):c.469+5G>C
|
rs2108777804
|
|
NM_002448.3(MSX1):c.605G>A (p.Arg202His)
|
rs121913129
|
|
NM_002470.4(MYH3):c.1960-17dup
|
rs3216884
|
|
NM_002470.4(MYH3):c.1960-8del
|
rs3216884
|
|
NM_002471.3(MYH6):c.3979-8C>A
|
rs555976716
|
|
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly)
|
rs138572790
|
|
NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu)
|
rs2138615086
|
|
NM_002471.4(MYH6):c.1887T>C (p.Asp629=)
|
rs2138609012
|
|
NM_002471.4(MYH6):c.2093A>G (p.Asn698Ser)
|
rs2138604595
|
|
NM_002471.4(MYH6):c.2292+1G>T
|
rs771569935
|
|
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser)
|
rs1891315952
|
|
NM_002471.4(MYH6):c.3979-10C>A
|
rs28730768
|
|
NM_002471.4(MYH6):c.3979-11C>G
|
rs200618133
|
|
NM_002471.4(MYH6):c.3979-11C>T
|
rs200618133
|
|
NM_002471.4(MYH6):c.3979-14C>A
|
rs372226248
|
|
NM_002471.4(MYH6):c.3979-7_3979-5del
|
rs397516764
|
|
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys)
|
rs201989347
|
|
NM_002471.4(MYH6):c.4651-7T>A
|
rs1891033978
|
|
NM_002471.4(MYH6):c.4955T>C (p.Leu1652Pro)
|
rs2138584834
|
|
NM_002474.3(MYH11):c.1575+8del
|
rs769321167
|
|
NM_002474.3(MYH11):c.232A>G (p.Lys78Glu)
|
rs2151381334
|
|
NM_002474.3(MYH11):c.2998-18_2998-17del
|
rs746744616
|
|
NM_002474.3(MYH11):c.5370C>G (p.Leu1790=)
|
rs35295469
|
|
NM_002479.6(MYOG):c.106G>C (p.Glu36Gln)
|
rs141951943
|
|
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)
|
rs121908985
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002693.3(POLG):c.856-17CTC[4]
|
rs200056162
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)
|
rs121918514
|
|
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)
|
rs397507509
|
|
NM_002860.4(ALDH18A1):c.809-1G>C
|
rs1202802893
|
|
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del)
|
rs113614842
|
|
NM_003000.3(SDHB):c.200+1G>A
|
rs2101541309
|
|
NM_003000.3(SDHB):c.490C>T (p.Gln164Ter)
|
rs1553177679
|
|
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser)
|
rs1553177290
|
|
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro)
|
rs80338846
|
|
NM_003036.4(SKI):c.27C>A (p.Gly9=)
|
rs1476360335
|
|
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=)
|
rs6344
|
|
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)
|
rs876657400
|
|
NM_003060.4(SLC22A5):c.825-1G>C
|
rs1057516805
|
|
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238_Pro239insGln)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln)
|
rs113070757
|
|
NM_003193.5(TBCE):c.569A>C (p.Lys190Thr)
|
rs150592371
|
|
NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del)
|
rs550914200
|
|
NM_003200.5(TCF3):c.888C>T (p.Ala296=)
|
rs34203855
|
|
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)
|
rs1555360033
|
|
NM_003242.6(TGFBR2):c.1114A>G (p.Lys372Glu)
|
rs2125436283
|
|
NM_003242.6(TGFBR2):c.123C>T (p.Asn41=)
|
rs2125404707
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
NM_003289.4(TPM2):c.773-3dup
|
rs35401252
|
|
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)
|
rs782416867
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
NM_003413.4(ZIC3):c.667AACATG[3] (p.223NM[3])
|
rs779610526
|
|
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs)
|
rs960577385
|
|
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup)
|
rs398123707
|
|
NM_003482.4(KMT2D):c.11538C>T (p.Gly3846=)
|
rs990458285
|
|
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter)
|
rs727503979
|
|
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)
|
rs201623566
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
NM_003611.3(OFD1):c.2052C>G (p.Ser684=)
|
rs61742891
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003661.4(APOL1):c.945T>G (p.Gly315=)
|
rs1603482264
|
|
NM_003737.4(DCHS1):c.5035+10dup
|
rs554638348
|
|
NM_003749.3(IRS2):c.2081CCG[9] (p.Ala701dup)
|
rs34412495
|
|
NM_003824.4(FADD):c.276T>G (p.Pro92=)
|
rs2135898214
|
|
NM_003923.3(FOXH1):c.771C>T (p.Gly257=)
|
rs115750264
|
|
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr)
|
rs121908130
|
|
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)
|
rs28939089
|
|
NM_003978.5(PSTPIP1):c.821C>T (p.Thr274Met)
|
rs2076440871
|
|
NM_004006.3(DMD):c.2168+11C>G
|
rs376214348
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004056.6(CA8):c.*36-24dup
|
rs57677078
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)
|
rs112307877
|
|
NM_004168.4(SDHA):c.622-13del
|
rs3835068
|
|
NM_004177.5(STX3):c.739C>T (p.Arg247Ter)
|
rs575668968
|
|
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)
|
rs35353912
|
|
NM_004187.5(KDM5C):c.2517-9_2517-7dup
|
rs398124111
|
|
NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs)
|
rs778141083
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)
|
rs35434411
|
|
NM_004281.4(BAG3):c.612G>A (p.Gly204=)
|
rs2134065088
|
|
NM_004360.5(CDH1):c.1320+1G>T
|
rs886039685
|
|
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)
|
rs77181645
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.3370-16dup
|
rs75459669
|
|
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His)
|
rs142545779
|
|
NM_004387.4(NKX2-5):c.335-311_335-303del
|
rs200467566
|
|
NM_004393.6(DAG1):c.-116-4dup
|
rs200455639
|
|
NM_004415.3(DSP):c.8487_8498del12
|
rs727504704
|
|
NM_004415.4(DSP):c.1266+6G>T
|
rs73375345
|
|
NM_004415.4(DSP):c.2436+16A>G
|
rs199555263
|
|
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)
|
rs730880082
|
|
NM_004415.4(DSP):c.3054_3055del (p.Ser1018fs)
|
rs2113690064
|
|
NM_004415.4(DSP):c.3146C>G (p.Ser1049Trp)
|
rs751361395
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
NM_004415.4(DSP):c.4245T>G (p.Thr1415=)
|
rs397516936
|
|
NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs)
|
rs796620239
|
|
NM_004415.4(DSP):c.5798C>T (p.Ser1933Phe)
|
rs558069434
|
|
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser)
|
rs1759514545
|
|
NM_004415.4(DSP):c.6075T>A (p.Pro2025=)
|
rs2113699490
|
|
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly)
|
rs1198357388
|
|
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val)
|
rs374137476
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004525.3(LRP2):c.428-9_428-8del
|
rs370823033
|
|
NM_004577.4(PSPH):c.268G>A (p.Gly90Ser)
|
rs75395437
|
|
NM_004612.4(TGFBR1):c.927G>C (p.Thr309=)
|
rs201323409
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)
|
rs143092783
|
|
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser)
|
rs115931022
|
|
NM_004655.4(AXIN2):c.1966C>T (p.Arg656Ter)
|
rs121908568
|
|
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del)
|
rs566283411
|
|
NM_004787.4(SLIT2):c.4253C>T (p.Ala1418Val)
|
rs143417693
|
|
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup)
|
rs770515802
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
NM_005045.4(RELN):c.5211-7del
|
rs34125550
|
|
NM_005045.4(RELN):c.5211-8_5211-7del
|
rs34125550
|
|
NM_005060.4(RORC):c.1391C>G (p.Ala464Gly)
|
rs113195254
|
|
NM_005097.4(LGI1):c.432-6_432-5dup
|
rs61662431
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
NM_005159.5(ACTC1):c.809-58TG[16]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.811A>G (p.Met271Val)
|
rs2140429730
|
|
NM_005159.5(ACTC1):c.967G>T (p.Ala323Ser)
|
rs771011464
|
|
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.3149-25_3149-24dup
|
rs79558427
|
|
NM_005263.5(GFI1):c.925-40CT[15]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[19]
|
rs35896485
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005475.3(SH2B3):c.1236+4TGGGG[4]
|
rs111340708
|
|
NM_005475.3(SH2B3):c.1236+4TGGGG[6]
|
rs111340708
|
|
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His)
|
rs1057519275
|
|
NM_005477.3(HCN4):c.785+18T>A
|
rs1412056222
|
|
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)
|
rs147114700
|
|
NM_005559.4(LAMA1):c.842G>A (p.Trp281Ter)
|
rs2144193240
|
|
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter)
|
rs1480105908
|
|
NM_005585.5(SMAD6):c.1318G>A (p.Asp440Asn)
|
rs924329960
|
|
NM_005591.4(MRE11):c.228C>T (p.Leu76=)
|
rs748605250
|
|
NM_005591.4(MRE11):c.315-14dup
|
rs35062043
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=)
|
rs782373793
|
|
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs)
|
rs137854889
|
|
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys)
|
rs1962537574
|
|
NM_005912.3(MC4R):c.240C>A (p.Tyr80Ter)
|
rs895704914
|
|
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln)
|
rs1435358988
|
|
NM_005989.4(AKR1D1):c.379-4del
|
rs35402657
|
|
NM_006208.3(ENPP1):c.313+9GT[20]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[22]
|
rs59956343
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn)
|
rs112835359
|
|
NM_006267.5(RANBP2):c.6612C>A (p.Ala2204=)
|
rs202005268
|
|
NM_006267.5(RANBP2):c.7790T>C (p.Phe2597Ser)
|
rs2949962
|
|
NM_006284.4(TAF10):c.*784T>G
|
rs769283883
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
NM_006393.3(NEBL):c.1775C>T (p.Ala592Val)
|
rs146275785
|
|
NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser)
|
rs192869629
|
|
NM_006440.5(TXNRD2):c.1407C>A (p.Asn469Lys)
|
rs200063300
|
|
NM_006440.5(TXNRD2):c.64G>A (p.Val22Met)
|
rs370819229
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.679+4C>T
|
rs139492241
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys)
|
rs115098969
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter)
|
rs121918316
|
|
NM_006790.3(MYOT):c.1401T>C (p.Asn467=)
|
rs145427063
|
|
NM_006796.3(AFG3L2):c.293-14_293-13del
|
rs556473698
|
|
NM_006883.2(SHOX):c.-512C>A
|
rs113313554
|
|
NM_006904.7(PRKDC):c.8662G>C (p.Val2888Leu)
|
rs185741285
|
|
NM_006904.7(PRKDC):c.9337-4del
|
rs11311765
|
|
NM_006929.5(SKIC2):c.116C>T (p.Pro39Leu)
|
rs2151802046
|
|
NM_006941.4(SOX10):c.723T>A (p.Pro241=)
|
rs1601879433
|
|
NM_006950.3(SYN1):c.189G>T (p.Pro63=)
|
rs371739376
|
|
NM_006950.3(SYN1):c.472A>C (p.Asn158His)
|
rs759485248
|
|
NM_007078.3(LDB3):c.1098T>G (p.Ser366=)
|
rs2132465936
|
|
NM_007078.3(LDB3):c.465C>T (p.Leu155=)
|
rs45516997
|
|
NM_007078.3(LDB3):c.690-4837C>T
|
rs528725791
|
|
NM_007118.4(TRIO):c.3332-8T>C
|
rs369818812
|
|
NM_007118.4(TRIO):c.3948+26_3948+27dup
|
rs57751910
|
|
NM_007126.5(VCP):c.464G>A (p.Arg155His)
|
rs121909329
|
|
NM_007126.5(VCP):c.475C>T (p.Arg159Cys)
|
rs387906789
|
|
NM_007187.5(WBP4):c.262+23del
|
rs58699334
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
NM_007194.4(CHEK2):c.78_79del (p.Gln27fs)
|
rs2146153237
|
|
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)
|
rs752018806
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)
|
rs80357576
|
|
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.1525A>G (p.Thr509Ala)
|
rs1238203770
|
|
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter)
|
rs80357427
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.2139A>C (p.Ser713=)
|
rs1131692089
|
|
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)
|
rs80357507
|
|
NM_007294.4(BRCA1):c.3467A>C (p.Asp1156Ala)
|
rs2154312065
|
|
NM_007294.4(BRCA1):c.3888TTC[1] (p.Ser1298del)
|
rs80358339
|
|
NM_007294.4(BRCA1):c.3918G>T (p.Leu1306Phe)
|
rs786202068
|
|
NM_007294.4(BRCA1):c.439T>C (p.Leu147=)
|
rs794727800
|
|
NM_007294.4(BRCA1):c.441+36_441+49del
|
rs373413425
|
|
NM_007294.4(BRCA1):c.441+51del
|
rs921962743
|
|
NM_007294.4(BRCA1):c.441+64del
|
rs72434991
|
|
NM_007294.4(BRCA1):c.4485-134C>T
|
rs1213345369
|
|
NM_007294.4(BRCA1):c.4699G>T (p.Gly1567Ter)
|
rs568753972
|
|
NM_007294.4(BRCA1):c.4987-53G>A
|
rs2153723422
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.548-41A>G
|
rs1377029950
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
NM_007315.4(STAT1):c.800C>T (p.Ala267Val)
|
rs387906759
|
|
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln)
|
rs387906760
|
|
NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln)
|
rs2131299400
|
|
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)
|
rs80356734
|
|
NM_012079.6(DGAT1):c.856-3C>T
|
rs201711241
|
|
NM_012134.3(LMOD1):c.1769T>C (p.Leu590Pro)
|
rs1681246206
|
|
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3])
|
rs768610152
|
|
NM_012216.4(MID2):c.1662G>A (p.Leu554=)
|
rs749983502
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup)
|
rs375513122
|
|
NM_013266.4(CTNNA3):c.2401-23dup
|
rs1338241471
|
|
NM_014000.3(VCL):c.1294C>T (p.Leu432=)
|
rs144146254
|
|
NM_014000.3(VCL):c.2276G>A (p.Arg759Gln)
|
rs1425397914
|
|
NM_014000.3(VCL):c.379G>A (p.Asp127Asn)
|
rs1554816666
|
|
NM_014000.3(VCL):c.622+4C>T
|
rs201020802
|
|
NM_014055.4(IFT81):c.714A>C (p.Gln238His)
|
rs146627387
|
|
NM_014251.3(SLC25A13):c.1452+19del
|
rs749506606
|
|
NM_014270.5(SLC7A9):c.120G>A (p.Val40=)
|
rs140179068
|
|
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs)
|
rs776659587
|
|
NM_014425.5(INVS):c.2069-18_2069-16del
|
rs577372332
|
|
NM_014476.6(PDLIM3):c.246-9_246-5del
|
rs765292127
|
|
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)
|
rs1490010141
|
|
NM_014846.4(WASHC5):c.2149C>T (p.Arg717Cys)
|
rs1354434507
|
|
NM_014846.4(WASHC5):c.694G>C (p.Asp232His)
|
rs1817136668
|
|
NM_014874.4(MFN2):c.475-10C>G
|
rs2100825982
|
|
NM_014915.3(ANKRD26):c.1269+7_1269+9del
|
rs200015812
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_014956.5(CEP164):c.380C>A (p.Pro127His)
|
rs143659874
|
|
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)
|
rs143659874
|
|
NM_014967.5(FAN1):c.2418C>T (p.Asp806=)
|
rs143461130
|
|
NM_015202.5(KATNIP):c.1113+10G>A
|
rs376063239
|
|
NM_015272.5(RPGRIP1L):c.3295-8del
|
rs113083177
|
|
NM_015311.3(OBSL1):c.5210C>A (p.Thr1737Lys)
|
rs199594182
|
|
NM_015450.3(POT1):c.-153-9del
|
rs57468586
|
|
NM_015909.4(NBAS):c.540C>T (p.Ser180=)
|
rs202027230
|
|
NM_016188.5(ACTL6B):c.144G>C (p.Glu48Asp)
|
rs141807780
|
|
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)
|
rs141804012
|
|
NM_016203.4(PRKAG2):c.504A>C (p.Gln168His)
|
rs2151477345
|
|
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)
|
rs372215131
|
|
NM_017534.6(MYH2):c.2615C>G (p.Ser872Ter)
|
rs2142303290
|
|
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln)
|
rs774808496
|
|
NM_017668.3(NDE1):c.*388del
|
rs543763112
|
|
NM_017780.4(CHD7):c.2096+21dup
|
rs111577577
|
|
NM_017780.4(CHD7):c.7173C>T (p.Ala2391=)
|
rs545381857
|
|
NM_017838.4(NHP2):c.160+10A>T
|
rs376220034
|
|
NM_017849.4(TMEM127):c.410-2A>G
|
rs121908826
|
|
NM_018051.5(DYNC2I1):c.471G>A (p.Ala157=)
|
rs375082266
|
|
NM_018100.4(EFHC1):c.723+106C>T
|
rs190021570
|
|
NM_018122.5(DARS2):c.228-12C>G
|
rs9425753
|
|
NM_018486.3(HDAC8):c.738-1G>A
|
rs1602975601
|
|
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)
|
rs72650732
|
|
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del)
|
rs544395150
|
|
NM_019026.6(TMCO1):c.324-7C>T
|
rs200248108
|
|
NM_019066.5(MAGEL2):c.3140T>C (p.Val1047Ala)
|
rs576711188
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG
|
rs71269007
|
|
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)
|
rs10870182
|
|
NM_020223.4(FAM20C):c.953_956+30dup
|
rs771282640
|
|
NM_020297.4(ABCC9):c.1137T>C (p.Thr379=)
|
rs1389562014
|
|
NM_020297.4(ABCC9):c.2020-6T>C
|
rs1234670723
|
|
NM_020297.4(ABCC9):c.2474C>T (p.Ala825Val)
|
rs964127282
|
|
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)
|
rs387907228
|
|
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)
|
rs387907208
|
|
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln)
|
rs387907209
|
|
NM_020297.4(ABCC9):c.4450-5del
|
rs4148680
|
|
NM_020297.4(ABCC9):c.817-18del
|
rs199947733
|
|
NM_020458.4(TTC7A):c.1026C>T (p.Ile342=)
|
rs151317740
|
|
NM_020751.3(COG6):c.1646G>T (p.Gly549Val)
|
rs387906959
|
|
NM_020774.4(MIB1):c.1322A>C (p.Asn441Thr)
|
rs730880135
|
|
NM_020774.4(MIB1):c.180C>T (p.Tyr60=)
|
rs141633387
|
|
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr)
|
rs150028343
|
|
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys)
|
rs866242631
|
|
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
|
rs587777264
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
NM_020964.3(EPG5):c.6622-23dup
|
rs11333207
|
|
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)
|
rs377767397
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp)
|
rs587777408
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met)
|
rs752653043
|
|
NM_021245.4(MYOZ1):c.652T>G (p.Tyr218Asp)
|
rs145071008
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
NM_022336.4(EDAR):c.964-1G>C
|
rs2105390253
|
|
NM_024009.3(GJB3):c.479G>A (p.Arg160His)
|
rs200055020
|
|
NM_024312.5(GNPTAB):c.-62GGC[7]
|
rs76300806
|
|
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser)
|
rs187262922
|
|
NM_024334.3(TMEM43):c.163-3del
|
rs371706980
|
|
NM_024408.4(NOTCH2):c.312A>G (p.Ser104=)
|
rs2793999
|
|
NM_024422.6(DSC2):c.2125+1del
|
rs794728072
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
NM_024426.6(WT1):c.785-14G>C
|
rs375514482
|
|
NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del)
|
rs371633333
|
|
NM_024496.4(IRF2BPL):c.491_492insCGC (p.Ala164dup)
|
rs780441372
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024589.3(ROGDI):c.117+10C>G
|
rs113858060
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)
|
rs1856010874
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)
|
rs1555457841
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024757.5(EHMT1):c.2929C>T (p.Gln977Ter)
|
rs2137711618
|
|
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs)
|
rs776789412
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)
|
rs1226324483
|
|
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu)
|
rs769602871
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
NM_025216.3(WNT10A):c.831G>C (p.Trp277Cys)
|
rs1234227647
|
|
NM_025243.4(SLC19A3):c.980-10T>C
|
rs750918156
|
|
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)
|
rs371983878
|
|
NM_031443.4(CCM2):c.236_237del (p.Tyr79fs)
|
rs2128747325
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.380-28G>A
|
rs4988343
|
|
NM_032119.4(ADGRV1):c.14691C>T (p.Leu4897=)
|
rs1282851932
|
|
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)
|
rs41303350
|
|
NM_032119.4(ADGRV1):c.18433-5del
|
rs35858094
|
|
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)
|
rs111033452
|
|
NM_032383.5(HPS3):c.884+25del
|
rs10693502
|
|
NM_032427.4(MAML2):c.1782GCA[12] (p.Gln621del)
|
rs60727839
|
|
NM_032578.4(MYPN):c.2302C>T (p.Pro768Ser)
|
rs772356751
|
|
NM_032578.4(MYPN):c.2565-8T>A
|
rs2043210119
|
|
NM_032578.4(MYPN):c.3417C>G (p.Arg1139=)
|
rs144488384
|
|
NM_032578.4(MYPN):c.3659+8A>G
|
rs2134311963
|
|
NM_032588.4(TRIM63):c.1052-21_1052-20del
|
rs768795582
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)
|
rs104886094
|
|
NM_033380.3(COL4A5):c.1525G>T (p.Gly509Cys)
|
rs754223700
|
|
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly)
|
rs768580195
|
|
NM_033629.6(TREX1):c.720G>A (p.Arg240=)
|
rs72556555
|
|
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
|
rs368390254
|
|
NM_053025.4(MYLK):c.4289-10dup
|
rs41431347
|
|
NM_058179.4(PSAT1):c.571-4dup
|
rs536197677
|
|
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp)
|
rs1196950915
|
|
NM_130797.4(DPP6):c.1095C>T (p.Thr365=)
|
rs2150383792
|
|
NM_130797.4(DPP6):c.244-141059C>T
|
rs606231226
|
|
NM_138554.5(TLR4):c.2288G>A (p.Arg763His)
|
rs5030723
|
|
NM_138638.5(CFL2):c.312-7del
|
rs35515423
|
|
NM_138694.4(PKHD1):c.8302+2T>C
|
rs2151510946
|
|
NM_138713.4(NFAT5):c.1005+14_1005+17del
|
rs751067427
|
|
NM_138927.4(SON):c.3688_3741dup (p.Tyr1230_Thr1247dup)
|
rs1569055881
|
|
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)
|
rs200067011
|
|
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)
|
rs397517848
|
|
NM_144573.4(NEXN):c.1733G>T (p.Arg578Ile)
|
rs374878979
|
|
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs)
|
rs775629965
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_145046.5(CALR3):c.1068_1069del (p.Glu357fs)
|
rs2122122870
|
|
NM_145207.3(AFG2A):c.1677C>A (p.Tyr559Ter)
|
rs139834687
|
|
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly)
|
rs768528444
|
|
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)
|
rs552219028
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_145239.3(PRRT2):c.564G>A (p.Gln188=)
|
rs545201760
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)
|
rs77838305
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152384.3(BBS5):c.387-15_387-12del
|
rs756793669
|
|
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)
|
rs1574339529
|
|
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=)
|
rs77759532
|
|
NM_152564.5(VPS13B):c.2014-2A>G
|
rs1588095580
|
|
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=)
|
rs139421676
|
|
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1608+5G>C
|
rs267607539
|
|
NM_170707.4(LMNA):c.308A>G (p.Gln103Arg)
|
rs2102818914
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)
|
rs58048078
|
|
NM_170707.4(LMNA):c.876G>A (p.Leu292=)
|
rs2102883669
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)
|
rs118192194
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)
|
rs118192199
|
|
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)
|
rs1057516085
|
|
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
|
rs1057516099
|
|
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)
|
rs864321707
|
|
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)
|
rs118192215
|
|
NM_172362.3(KCNH1):c.80-19dup
|
rs56223346
|
|
NM_172362.3(KCNH1):c.80-6del
|
rs56223346
|
|
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)
|
rs879255251
|
|
NM_174934.4(SCN4B):c.208T>C (p.Tyr70His)
|
rs1029021066
|
|
NM_175875.5(SIX5):c.1773G>T (p.Thr591=)
|
rs138916954
|
|
NM_176787.5(PIGN):c.1117-1=
|
rs9959632
|
|
NM_181523.3(PIK3R1):c.634+8T>C
|
rs368138177
|
|
NM_182895.5(SCARF2):c.1425-35_1425-25del
|
rs761153453
|
|
NM_182919.4(TICAM1):c.733G>A (p.Gly245Ser)
|
rs151272128
|
|
NM_182961.4(SYNE1):c.17203-6del
|
rs55633181
|
|
NM_182961.4(SYNE1):c.17203-7_17203-6del
|
rs55633181
|
|
NM_182961.4(SYNE1):c.3670-14del
|
rs111322292
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
NM_194454.3(KRIT1):c.1166del (p.Gly389fs)
|
rs2131511467
|
|
NM_194454.3(KRIT1):c.1287del (p.Ser430fs)
|
rs2131454847
|
|
NM_194454.3(KRIT1):c.1412-1G>C
|
rs1554513070
|
|
NM_194454.3(KRIT1):c.2043del (p.Lys682fs)
|
rs1563212150
|
|
NM_198060.4(NRAP):c.994-13dup
|
rs35741231
|
|
NM_198253.3(TERT):c.2970+7A>G
|
rs530914674
|
|
NM_198253.3(TERT):c.395G>A (p.Arg132Gln)
|
rs2126690021
|
|
NM_198271.5(LMOD3):c.426A>C (p.Glu142Asp)
|
rs111848977
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_201384.3(PLEC):c.378T>G (p.Ala126=)
|
rs6993938
|
|
NM_201596.3(CACNB2):c.121-17_121-3dup
|
rs71402148
|
|
NM_201596.3(CACNB2):c.121-25_121-3dup
|
rs71402148
|
|
NM_201596.3(CACNB2):c.121-3_121-2insTTTTGT
|
rs769211879
|
|
NM_201596.3(CACNB2):c.121-9_121-3del
|
rs71402148
|
|
NM_203447.4(DOCK8):c.3234+15del
|
rs375864618
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.2236-10del
|
rs72105710
|
|