NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
NM_000054.7(AVPR2):c.26-6T>G
|
rs56689668
|
0.99968
|
NM_004415.4(DSP):c.741= (p.Ala247=)
|
rs2806234
|
0.99917
|
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala)
|
rs1552311
|
0.99732
|
NM_001191016.3(CASP12):c.373C>T (p.Arg125Ter)
|
rs497116
|
0.95649
|
NM_000367.5(TPMT):c.474C>T (p.Ile158=)
|
rs2842934
|
0.78250
|
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=)
|
rs774726264
|
0.33333
|
NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val)
|
rs396991
|
0.32987
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_001164508.2(NEB):c.13788+12C>G
|
rs876657543
|
0.14589
|
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)
|
rs113097169
|
0.13255
|
NM_005411.5(SFTPA1):c.56T>C (p.Val19Ala)
|
rs1059047
|
0.08215
|
NM_001103146.3(GIGYF2):c.3630_3631insG (p.Gln1211fs)
|
rs775324034
|
0.03496
|
NM_002458.3(MUC5B):c.9010G>A (p.Ala3004Thr)
|
rs116870693
|
0.03214
|
NM_000130.5(F5):c.6443T>C (p.Met2148Thr)
|
rs9332701
|
0.03115
|
NM_001393986.1(PRDM2):c.3070T>A (p.Ser1024Thr)
|
rs41269807
|
0.03109
|
NM_004415.4(DSP):c.423-16_423-15insC
|
rs113028223
|
0.03015
|
NM_001130182.2(DNAJA4):c.132+1348_132+1349del
|
rs142025971
|
0.02999
|
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val)
|
rs75792246
|
0.02993
|
NM_002458.3(MUC5B):c.11913T>C (p.Pro3971=)
|
rs367905040
|
0.02930
|
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)
|
rs28933977
|
0.02826
|
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)
|
rs117535951
|
0.02765
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_002458.3(MUC5B):c.9181T>C (p.Ser3061Pro)
|
rs189329205
|
0.02674
|
NM_002458.3(MUC5B):c.9179A>C (p.Lys3060Thr)
|
rs184565965
|
0.02673
|
NM_002458.3(MUC5B):c.9140C>A (p.Thr3047Asn)
|
rs201236828
|
0.02641
|
NM_002458.3(MUC5B):c.13674T>C (p.Thr4558=)
|
rs202088302
|
0.02606
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_002458.3(MUC5B):c.8900A>G (p.Asn2967Ser)
|
rs200811033
|
0.02553
|
NM_003719.5(PDE8B):c.1366-5G>A
|
rs79008179
|
0.02537
|
NM_020877.5(DNAH2):c.12974C>G (p.Pro4325Arg)
|
rs116930996
|
0.02472
|
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile)
|
rs1800961
|
0.02469
|
NM_198505.4(ATP13A5):c.1063C>T (p.Gln355Ter)
|
rs74437357
|
0.02405
|
NM_001347886.2(DNAH3):c.6795C>T (p.Phe2265=)
|
rs111770788
|
0.02387
|
NM_002458.3(MUC5B):c.7826T>C (p.Leu2609Pro)
|
rs2943496
|
0.02358
|
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg)
|
rs34231037
|
0.02299
|
NM_001347886.2(DNAH3):c.10328G>A (p.Arg3443Gln)
|
rs111539520
|
0.02242
|
NM_005173.4(ATP2A3):c.2020C>T (p.Arg674Cys)
|
rs9895012
|
0.02226
|
NM_002458.3(MUC5B):c.14718T>C (p.Pro4906=)
|
rs145066684
|
0.02192
|
NM_004211.5(SLC6A5):c.266C>A (p.Ala89Glu)
|
rs61736602
|
0.02191
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_134424.4(RAD52):c.1245T>G (p.Tyr415Ter)
|
rs4987208
|
0.02163
|
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys)
|
rs35879351
|
0.02129
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_005144.5(HR):c.1859G>A (p.Arg620Gln)
|
rs117197822
|
0.02084
|
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys)
|
rs62636730
|
0.02044
|
NM_012106.4(ARL2BP):c.259G>A (p.Glu87Lys)
|
rs7198865
|
0.02043
|
NM_002458.3(MUC5B):c.8886T>C (p.Arg2962=)
|
rs368128605
|
0.02002
|
NM_002458.3(MUC5B):c.9143C>T (p.Ala3048Val)
|
rs188370271
|
0.01993
|
NM_017637.6(BNC2):c.2768C>T (p.Ala923Val)
|
rs117452684
|
0.01981
|
NM_006915.3(RP2):c.844C>T (p.Arg282Trp)
|
rs1805147
|
0.01957
|
NM_000237.3(LPL):c.106G>A (p.Asp36Asn)
|
rs1801177
|
0.01951
|
NM_173628.4(DNAH17):c.12854G>A (p.Arg4285Gln)
|
rs35973257
|
0.01936
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_001363538.2(TCAF2):c.2190C>T (p.Pro730=)
|
rs142539094
|
0.01872
|
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)
|
rs34162630
|
0.01756
|
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)
|
rs35662416
|
0.01746
|
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys)
|
rs35037984
|
0.01713
|
NM_018897.3(DNAH7):c.6161A>G (p.Tyr2054Cys)
|
rs62623377
|
0.01654
|
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)
|
rs5742912
|
0.01653
|
NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
NM_032495.6(HOPX):c.87G>A (p.Glu29=)
|
rs11555052
|
0.01597
|
NM_002424.3(MMP8):c.1348C>T (p.Gln450Ter)
|
rs35231465
|
0.01589
|
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)
|
rs62288347
|
0.01504
|
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser)
|
rs72842957
|
0.01485
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr)
|
rs143663847
|
0.01456
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_000369.5(TSHR):c.692+49T>C
|
rs28636074
|
0.01441
|
NM_000175.5(GPI):c.623T>C (p.Ile208Thr)
|
rs8191371
|
0.01437
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_001194.4(HCN2):c.1584+7C>T
|
rs55978915
|
0.01331
|
NM_012268.4(PLD3):c.1326G>A (p.Ala442=)
|
rs4819
|
0.01329
|
NM_012079.6(DGAT1):c.455A>G (p.Lys152Arg)
|
rs55907012
|
0.01307
|
NM_000077.5(CDKN2A):c.-25C>T
|
rs144481587
|
0.01273
|
NM_031900.4(AGXT2):c.1188+1G>A
|
rs114286107
|
0.01270
|
NM_004004.6(GJB2):c.-216T>G
|
rs574815423
|
0.01243
|
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=)
|
rs17849079
|
0.01239
|
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser)
|
rs61735304
|
0.01236
|
NM_001267550.2(TTN):c.100766-9C>T
|
rs77483833
|
0.01165
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter)
|
rs45621032
|
0.01134
|
NM_004333.6(BRAF):c.-19C>T
|
rs71645935
|
0.01115
|
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)
|
rs36049418
|
0.01075
|
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)
|
rs17850455
|
0.01048
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)
|
rs117761837
|
0.01028
|
NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=)
|
rs116757787
|
0.01011
|
NM_018046.5(AGGF1):c.397G>A (p.Glu133Lys)
|
rs34203073
|
0.01003
|
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)
|
rs41314453
|
0.01000
|
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser)
|
rs56398830
|
0.00998
|
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu)
|
rs76491994
|
0.00978
|
NM_000479.5(AMH):c.974A>G (p.Gln325Arg)
|
rs140765565
|
0.00966
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)
|
rs34617762
|
0.00959
|
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168
|
0.00946
|
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)
|
rs116474260
|
0.00939
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
|
rs58238559
|
0.00910
|
NM_018897.3(DNAH7):c.1139T>G (p.Met380Arg)
|
rs144390858
|
0.00904
|
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)
|
rs35942089
|
0.00900
|
NM_005411.5(SFTPA1):c.26A>C (p.Asn9Thr)
|
rs139899873
|
0.00891
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_020877.5(DNAH2):c.492G>A (p.Arg164=)
|
rs117035657
|
0.00887
|
NM_020877.5(DNAH2):c.2648C>T (p.Ser883Leu)
|
rs118057786
|
0.00885
|
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)
|
rs141309384
|
0.00866
|
NM_007214.5(SEC63):c.340-9T>C
|
rs1569555
|
0.00851
|
NM_000037.4(ANK1):c.5544+91C>T
|
rs72638959
|
0.00849
|
NM_005544.3(IRS1):c.2452G>C (p.Gly818Arg)
|
rs41265094
|
0.00841
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_005460.4(SNCAIP):c.2125G>C (p.Glu709Gln)
|
rs55712196
|
0.00826
|
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys)
|
rs61735393
|
0.00824
|
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met)
|
rs140447165
|
0.00815
|
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)
|
rs140869992
|
0.00811
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn)
|
rs52815063
|
0.00800
|
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=)
|
rs577023485
|
0.00762
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)
|
rs138292988
|
0.00725
|
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)
|
rs112571971
|
0.00706
|
NM_004316.4(ASCL1):c.123A>G (p.Ala41=)
|
rs558732328
|
0.00702
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_170665.4(ATP2A2):c.-10C>G
|
rs201929640
|
0.00698
|
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)
|
rs55984131
|
0.00696
|
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met)
|
rs61757218
|
0.00685
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys)
|
rs117603931
|
0.00662
|
NM_001292063.2(OTOG):c.8168T>C (p.Leu2723Pro)
|
rs180703235
|
0.00643
|
NM_000492.4(CFTR):c.1680-871A>G
|
rs572658447
|
0.00636
|
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
NM_002458.3(MUC5B):c.15826G>T (p.Val5276Leu)
|
rs55893724
|
0.00624
|
NM_000275.3(OCA2):c.574-19A>G
|
rs145242923
|
0.00618
|
NM_001142784.3(IL11RA):c.128C>T (p.Ser43Phe)
|
rs76429508
|
0.00615
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_003002.4(SDHD):c.*428A>G
|
rs184654032
|
0.00590
|
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)
|
rs72554028
|
0.00578
|
NM_001134363.3(RBM20):c.1881-3C>T
|
rs138436392
|
0.00575
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
0.00573
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
NM_004960.4(FUS):c.*41G>A
|
rs80301724
|
0.00551
|
NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln)
|
rs138964358
|
0.00550
|
NR_029615.1(MIR183):n.51G>T
|
rs72631833
|
0.00548
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe)
|
rs113470661
|
0.00506
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys)
|
rs77303974
|
0.00503
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_021075.4(NDUFV3):c.168A>C (p.Lys56Asn)
|
rs141922962
|
0.00469
|
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr)
|
rs113745835
|
0.00467
|
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)
|
rs757355779
|
0.00466
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_004316.4(ASCL1):c.138A>T (p.Ala46=)
|
rs552552603
|
0.00464
|
NM_001277115.2(DNAH11):c.4501-7A>T
|
rs62447794
|
0.00461
|
NR_029512.1(MIR96):n.42C>T
|
rs73159662
|
0.00451
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr)
|
rs12998234
|
0.00437
|
NM_003803.4(MYOM1):c.739G>A (p.Glu247Lys)
|
rs139422575
|
0.00435
|
NM_020297.4(ABCC9):c.142+15dup
|
rs571187142
|
0.00428
|
NM_032122.5(DTNBP1):c.811+96G>A
|
rs16876569
|
0.00424
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00418
|
NM_001393500.2(TOMT):c.253G>A (p.Val85Ile)
|
rs181092713
|
0.00416
|
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)
|
rs142027794
|
0.00415
|
NM_002458.3(MUC5B):c.2429C>A (p.Thr810Asn)
|
rs190624357
|
0.00413
|
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=)
|
rs182293382
|
0.00413
|
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)
|
rs55816283
|
0.00412
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu)
|
rs34035085
|
0.00401
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_001277115.2(DNAH11):c.13050-15C>T
|
rs149634292
|
0.00399
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)
|
rs7587103
|
0.00394
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)
|
rs41277374
|
0.00382
|
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)
|
rs182004761
|
0.00376
|
NM_012156.2(EPB41L1):c.1245C>T (p.Pro415=)
|
rs77396561
|
0.00373
|
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)
|
rs144511230
|
0.00372
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00362
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile)
|
rs76394680
|
0.00359
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys)
|
rs119486097
|
0.00351
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly)
|
rs35605307
|
0.00349
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg)
|
rs114969026
|
0.00341
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
NM_006393.3(NEBL):c.480+3A>G
|
rs71578983
|
0.00336
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_004817.4(TJP2):c.2992-8C>T
|
rs143965233
|
0.00327
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_001032283.3(TMPO):c.*1A>G
|
rs1058300
|
0.00324
|
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys)
|
rs150273659
|
0.00321
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00318
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_001292063.2(OTOG):c.639G>T (p.Glu213Asp)
|
rs61736015
|
0.00315
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_030930.4(UNC93B1):c.393-10C>T
|
rs117183629
|
0.00314
|
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)
|
rs144486524
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser)
|
rs41271277
|
0.00309
|
NM_181507.2(HPS5):c.345G>A (p.Met115Ile)
|
rs149229493
|
0.00309
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln)
|
rs76461792
|
0.00308
|
NM_020297.4(ABCC9):c.1296C>T (p.Pro432=)
|
rs10770865
|
0.00308
|
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)
|
rs72657389
|
0.00307
|
NM_015690.5(STK36):c.1158T>C (p.Asp386=)
|
rs55839518
|
0.00306
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)
|
rs72647870
|
0.00293
|
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val)
|
rs188517529
|
0.00293
|
NM_001277115.2(DNAH11):c.8798-5G>A
|
rs189821372
|
0.00292
|
NM_003672.4(CDC14A):c.1604A>G (p.Gln535Arg)
|
rs113885721
|
0.00292
|
NM_001292063.2(OTOG):c.7585+12G>A
|
rs538124093
|
0.00291
|
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)
|
rs72648256
|
0.00290
|
NM_001292063.2(OTOG):c.1213+14A>C
|
rs143302987
|
0.00290
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
NM_001614.5(ACTG1):c.780G>A (p.Ala260=)
|
rs140846345
|
0.00287
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met)
|
rs79229040
|
0.00285
|
NM_001032283.3(TMPO):c.565+1240G>A
|
rs139700737
|
0.00284
|
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile)
|
rs148915045
|
0.00284
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)
|
rs143567667
|
0.00277
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00276
|
NM_003803.4(MYOM1):c.2062A>T (p.Thr688Ser)
|
rs188677538
|
0.00276
|
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
|
rs116920018
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg)
|
rs150199226
|
0.00275
|
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)
|
rs72648980
|
0.00273
|
NM_012208.4(HARS2):c.7C>G (p.Leu3Val)
|
rs186043734
|
0.00273
|
NM_198999.3(SLC26A5):c.-13A>C
|
rs142432368
|
0.00273
|
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)
|
rs36119840
|
0.00272
|
NM_016938.5(EFEMP2):c.368-11G>A
|
rs181514768
|
0.00272
|
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)
|
rs111866410
|
0.00271
|
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu)
|
rs114435632
|
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_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)
|
rs146608896
|
0.00267
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
NM_015846.4(MBD1):c.1410G>A (p.Pro470=)
|
rs116701586
|
0.00267
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)
|
rs147383873
|
0.00265
|
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser)
|
rs149075285
|
0.00263
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
NM_003803.4(MYOM1):c.1901-14T>C
|
rs200115559
|
0.00262
|
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)
|
rs181717727
|
0.00261
|
NM_020297.4(ABCC9):c.2093-7T>C
|
rs185235724
|
0.00261
|
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln)
|
rs143848095
|
0.00260
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
NM_002230.4(JUP):c.1159-13C>A
|
rs201627219
|
0.00258
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)
|
rs72648913
|
0.00258
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)
|
rs139506970
|
0.00255
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_005422.4(TECTA):c.3304G>A (p.Val1102Ile)
|
rs34658230
|
0.00253
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
0.00252
|
NM_006393.3(NEBL):c.154-11C>A
|
rs41277376
|
0.00252
|
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)
|
rs188370772
|
0.00250
|
NM_019616.4(F7):c.739+7A>G
|
rs519650
|
0.00249
|
NM_020297.4(ABCC9):c.407-14C>A
|
rs201279882
|
0.00248
|
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg)
|
rs139459217
|
0.00247
|
NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys)
|
rs78427072
|
0.00246
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00246
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)
|
rs143584663
|
0.00245
|
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)
|
rs201709592
|
0.00245
|
NM_001134363.3(RBM20):c.150A>T (p.Pro50=)
|
rs376936285
|
0.00244
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_001292063.2(OTOG):c.899A>G (p.His300Arg)
|
rs189159426
|
0.00243
|
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=)
|
rs45437099
|
0.00242
|
NM_004447.6(EPS8):c.2230G>A (p.Val744Ile)
|
rs77967764
|
0.00242
|
NM_000337.6(SGCD):c.*2A>C
|
rs200757725
|
0.00241
|
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)
|
rs199821105
|
0.00240
|
NM_014000.3(VCL):c.1907A>G (p.His636Arg)
|
rs71579374
|
0.00240
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
NM_001005242.3(PKP2):c.1171-11T>C
|
rs183414126
|
0.00239
|
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr)
|
rs61756328
|
0.00239
|
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu)
|
rs200350579
|
0.00238
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=)
|
rs200913298
|
0.00238
|
NM_032119.4(ADGRV1):c.22+9T>C
|
rs368604803
|
0.00236
|
NM_153702.4(ELMOD2):c.116T>G (p.Val39Gly)
|
rs150922490
|
0.00232
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_000092.5(COL4A4):c.4217-15T>C
|
rs200926310
|
0.00228
|
NM_001035.3(RYR2):c.6555+6G>A
|
rs372661934
|
0.00228
|
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr)
|
rs144482486
|
0.00228
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)
|
rs201554140
|
0.00225
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
NM_024334.3(TMEM43):c.*8C>T
|
rs192707412
|
0.00225
|
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala)
|
rs147287437
|
0.00225
|
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)
|
rs72648925
|
0.00223
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)
|
rs138576504
|
0.00222
|
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)
|
rs144383241
|
0.00222
|
NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg)
|
rs147659164
|
0.00222
|
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met)
|
rs140126678
|
0.00220
|
NM_198253.3(TERT):c.1574-7G>A
|
rs34846301
|
0.00220
|
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)
|
rs138506461
|
0.00219
|
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)
|
rs114711705
|
0.00218
|
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys)
|
rs139954112
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_001386795.1(DTNA):c.1176-8T>C
|
rs41274310
|
0.00216
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_001105206.3(LAMA4):c.5207-14G>C
|
rs112265545
|
0.00214
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00214
|
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)
|
rs41268014
|
0.00213
|
NM_001267550.2(TTN):c.1068G>A (p.Glu356=)
|
rs144716589
|
0.00212
|
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)
|
rs140042576
|
0.00212
|
NM_006261.5(PROP1):c.630A>C (p.Pro210=)
|
rs535993919
|
0.00212
|
NM_053025.4(MYLK):c.755-12C>T
|
rs138877679
|
0.00212
|
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln)
|
rs150883816
|
0.00211
|
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr)
|
rs72647897
|
0.00211
|
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=)
|
rs113152264
|
0.00210
|
NM_001292063.2(OTOG):c.7693+14A>T
|
rs545542156
|
0.00210
|
NM_001267550.2(TTN):c.289G>A (p.Val97Met)
|
rs185921345
|
0.00208
|
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys)
|
rs191662816
|
0.00208
|
NM_002471.4(MYH6):c.4401T>G (p.Ser1467=)
|
rs150081280
|
0.00208
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_000260.4(MYO7A):c.4323+12G>A
|
rs115708951
|
0.00207
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
NM_198253.3(TERT):c.3105C>T (p.Val1035=)
|
rs181612536
|
0.00207
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)
|
rs147232392
|
0.00206
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)
|
rs200146361
|
0.00205
|
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=)
|
rs143004930
|
0.00205
|
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=)
|
rs546907305
|
0.00204
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00204
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)
|
rs140528529
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)
|
rs121908108
|
0.00202
|
NM_005379.4(MYO1A):c.541+12C>T
|
rs150907076
|
0.00201
|
NM_005411.5(SFTPA1):c.630C>G (p.Asn210Lys)
|
rs150214547
|
0.00201
|
NM_033337.3(CAV3):c.-1G>A
|
rs74377241
|
0.00201
|
NM_004700.4(KCNQ4):c.1292+12G>A
|
rs200426006
|
0.00200
|
NM_016929.5(CLIC5):c.341C>A (p.Ala114Glu)
|
rs143360018
|
0.00200
|
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)
|
rs191736683
|
0.00200
|
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met)
|
rs144539321
|
0.00200
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
NM_181426.2(CCDC39):c.1363-3del
|
rs551191744
|
0.00199
|
NM_000258.3(MYL3):c.130-14G>T
|
rs192329378
|
0.00198
|
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser)
|
rs148109368
|
0.00198
|
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp)
|
rs141407971
|
0.00198
|
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)
|
rs200378865
|
0.00197
|
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met)
|
rs150403702
|
0.00197
|
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser)
|
rs150864240
|
0.00196
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)
|
rs202085918
|
0.00195
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
NM_053025.4(MYLK):c.4620-6C>T
|
rs113607507
|
0.00195
|
NM_172245.4(CSF2RA):c.647-7G>A
|
rs189869234
|
0.00195
|
NM_172245.4(CSF2RA):c.997G>A (p.Val333Met)
|
rs150290042
|
0.00195
|
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)
|
rs144930507
|
0.00194
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_001943.5(DSG2):c.6G>A (p.Ala2=)
|
rs368809971
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_000899.5(KITLG):c.177C>T (p.Pro59=)
|
rs61924705
|
0.00192
|
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)
|
rs141202530
|
0.00192
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
NM_144991.3(TSPEAR):c.337G>A (p.Glu113Lys)
|
rs144166142
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00191
|
NM_000363.5(TNNI3):c.550-10C>T
|
rs201240150
|
0.00190
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)
|
rs62001015
|
0.00189
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)
|
rs149668487
|
0.00189
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
NM_007078.3(LDB3):c.1460G>A (p.Arg487His)
|
rs146265188
|
0.00189
|
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)
|
rs113498662
|
0.00189
|
NM_001032283.3(TMPO):c.565+1728G>C
|
rs145703021
|
0.00188
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)
|
rs116572520
|
0.00188
|
NM_006393.3(NEBL):c.1869+8C>G
|
rs188529864
|
0.00188
|
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)
|
rs11570052
|
0.00187
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro)
|
rs61744602
|
0.00187
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu)
|
rs35107075
|
0.00186
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu)
|
rs143251588
|
0.00185
|
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)
|
rs149133845
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_080680.3(COL11A2):c.2115+7T>C
|
rs186051366
|
0.00185
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)
|
rs149131555
|
0.00184
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)
|
rs200509948
|
0.00184
|
NM_014391.3(ANKRD1):c.208-15G>A
|
rs116511484
|
0.00184
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala)
|
rs144022614
|
0.00183
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_173477.5(USH1G):c.501C>G (p.Arg167=)
|
rs141688757
|
0.00182
|
NM_016929.5(CLIC5):c.508G>C (p.Gly170Arg)
|
rs114149334
|
0.00181
|
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)
|
rs61759926
|
0.00180
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_021167.5(GATAD1):c.176G>C (p.Gly59Ala)
|
rs531449433
|
0.00180
|
NM_133261.3(GIPC3):c.132G>C (p.Ala44=)
|
rs80060313
|
0.00180
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)
|
rs144682235
|
0.00179
|
NM_033118.4(MYLK2):c.1295+4C>A
|
rs113936360
|
0.00179
|
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)
|
rs45488304
|
0.00178
|
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=)
|
rs114736976
|
0.00178
|
NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro)
|
rs76657474
|
0.00178
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_080680.3(COL11A2):c.1774-9C>T
|
rs148243956
|
0.00178
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
|
rs28933981
|
0.00177
|
NM_001267550.2(TTN):c.29963-13A>G
|
rs72650008
|
0.00177
|
NM_006073.4(TRDN):c.793+61T>C
|
rs572614305
|
0.00177
|
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
|
rs200224422
|
0.00176
|
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly)
|
rs188319622
|
0.00176
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
NM_001318895.3(FHL2):c.109G>T (p.Ala37Ser)
|
rs74575749
|
0.00175
|
NM_002471.4(MYH6):c.2293-12C>G
|
rs115453571
|
0.00175
|
NM_004281.4(BAG3):c.25A>G (p.Met9Val)
|
rs137965903
|
0.00175
|
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys)
|
rs145656924
|
0.00175
|
NM_181458.4(PAX3):c.586+57A>G
|
rs202175449
|
0.00175
|
NM_001105206.3(LAMA4):c.196-9C>T
|
rs144850734
|
0.00174
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=)
|
rs111750275
|
0.00173
|
NM_001943.5(DSG2):c.1652-12C>T
|
rs140850369
|
0.00173
|
NM_002906.4(RDX):c.1487C>T (p.Ala496Val)
|
rs74983220
|
0.00173
|
NM_004985.5(KRAS):c.-48G>A
|
rs532564755
|
0.00173
|
NM_002471.4(MYH6):c.2928+5G>A
|
rs28730772
|
0.00172
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_001039141.3(TRIOBP):c.5886A>G (p.Pro1962=)
|
rs372220018
|
0.00171
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)
|
rs72773422
|
0.00170
|
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)
|
rs190565627
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln)
|
rs144800506
|
0.00170
|
NM_005419.4(STAT2):c.759C>T (p.His253=)
|
rs147605088
|
0.00169
|
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala)
|
rs139915181
|
0.00169
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)
|
rs142372794
|
0.00168
|
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln)
|
rs143495342
|
0.00168
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His)
|
rs200623501
|
0.00168
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn)
|
rs138151478
|
0.00168
|
NM_001292063.2(OTOG):c.1285C>T (p.Arg429Trp)
|
rs199968574
|
0.00166
|
NM_003803.4(MYOM1):c.3572A>G (p.Asn1191Ser)
|
rs200480164
|
0.00166
|
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)
|
rs373913240
|
0.00165
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)
|
rs11570351
|
0.00164
|
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)
|
rs115813214
|
0.00163
|
NM_170682.4(P2RX2):c.211G>A (p.Glu71Lys)
|
rs143664462
|
0.00163
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val)
|
rs61760172
|
0.00161
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_001369.3(DNAH5):c.1321-15T>C
|
rs202081804
|
0.00160
|
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)
|
rs143730090
|
0.00160
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
0.00160
|
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206
|
0.00160
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=)
|
rs201200682
|
0.00159
|
NM_001378609.3(OTOGL):c.1957T>G (p.Cys653Gly)
|
rs200364230
|
0.00159
|
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)
|
rs150395260
|
0.00159
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)
|
rs112120466
|
0.00159
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_001330691.3(CEP78):c.898T>C (p.Ser300Pro)
|
rs72743760
|
0.00158
|
NM_001370.2(DNAH6):c.10233C>G (p.Pro3411=)
|
rs72832550
|
0.00158
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_001039141.3(TRIOBP):c.3954C>T (p.Ser1318=)
|
rs200990219
|
0.00157
|
NM_015340.4(LARS2):c.255C>T (p.Tyr85=)
|
rs114881088
|
0.00157
|
NM_033337.3(CAV3):c.336C>T (p.Ile112=)
|
rs139985460
|
0.00157
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_001164508.2(NEB):c.8072G>A (p.Arg2691His)
|
rs35555631
|
0.00156
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
NM_004985.5(KRAS):c.-122C>T
|
rs61759617
|
0.00155
|
NM_172245.4(CSF2RA):c.279A>G (p.Thr93=)
|
rs140581875
|
0.00155
|
NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val)
|
rs138037294
|
0.00155
|
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala)
|
rs200017524
|
0.00154
|
NM_001145809.2(MYH14):c.5127+10G>A
|
rs370928889
|
0.00153
|
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)
|
rs189202799
|
0.00153
|
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys)
|
rs199809248
|
0.00153
|
NM_006941.4(SOX10):c.822C>T (p.Gly274=)
|
rs147334218
|
0.00153
|
NM_022114.4(PRDM16):c.201G>A (p.Pro67=)
|
rs199614349
|
0.00153
|
NM_001105206.3(LAMA4):c.4822-3C>T
|
rs191447048
|
0.00151
|
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)
|
rs72646880
|
0.00151
|
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)
|
rs199805060
|
0.00151
|
NM_003280.3(TNNC1):c.203-5C>T
|
rs142519988
|
0.00151
|
NM_006005.3(WFS1):c.1491C>T (p.Val497=)
|
rs148310584
|
0.00151
|
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)
|
rs61999270
|
0.00151
|
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val)
|
rs201323940
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)
|
rs77562287
|
0.00150
|
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val)
|
rs111033492
|
0.00150
|
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys)
|
rs201060702
|
0.00149
|
NM_003803.4(MYOM1):c.4776C>G (p.Leu1592=)
|
rs1143658
|
0.00149
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn)
|
rs151264959
|
0.00148
|
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser)
|
rs144907522
|
0.00148
|
NM_002458.3(MUC5B):c.8709G>A (p.Ala2903=)
|
rs371299435
|
0.00147
|
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)
|
rs182139018
|
0.00147
|
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp)
|
rs142990800
|
0.00147
|
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)
|
rs145204073
|
0.00146
|
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)
|
rs72650040
|
0.00146
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_002458.3(MUC5B):c.1497C>T (p.Gly499=)
|
rs377351415
|
0.00146
|
NM_006284.4(TAF10):c.*1210C>T
|
rs145172848
|
0.00146
|
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=)
|
rs186426892
|
0.00146
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_001038.6(SCNN1A):c.416+3C>T
|
rs181894737
|
0.00145
|
NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr)
|
rs61753157
|
0.00145
|
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)
|
rs72648972
|
0.00145
|
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu)
|
rs79730689
|
0.00145
|
NM_020433.5(JPH2):c.642G>A (p.Ala214=)
|
rs587780956
|
0.00145
|
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=)
|
rs61741955
|
0.00145
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)
|
rs17853184
|
0.00144
|
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=)
|
rs112874177
|
0.00143
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp)
|
rs148532589
|
0.00143
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
NM_000363.5(TNNI3):c.373-15C>G
|
rs192630178
|
0.00141
|
NM_001010892.3(RSPH4A):c.1662+15C>T
|
rs183372450
|
0.00141
|
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu)
|
rs150733188
|
0.00141
|
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)
|
rs148849567
|
0.00141
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
NM_004281.4(BAG3):c.549C>G (p.Ser183=)
|
rs112929734
|
0.00141
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00141
|
NM_144573.4(NEXN):c.864+12T>A
|
rs188416492
|
0.00141
|
NM_144672.4(OTOA):c.2417A>C (p.Tyr806Ser)
|
rs464691
|
0.00141
|
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=)
|
rs114719960
|
0.00141
|
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)
|
rs181306086
|
0.00140
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)
|
rs143002265
|
0.00139
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
NM_002473.6(MYH9):c.705+14C>T
|
rs142552338
|
0.00139
|
NM_003803.4(MYOM1):c.117C>T (p.Tyr39=)
|
rs375113650
|
0.00139
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
NM_000548.5(TSC2):c.5260-15C>T
|
rs45517416
|
0.00138
|
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)
|
rs370616818
|
0.00138
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_000257.4(MYH7):c.2358G>A (p.Thr786=)
|
rs36211714
|
0.00137
|
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg)
|
rs184218219
|
0.00137
|
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=)
|
rs375013523
|
0.00137
|
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His)
|
rs11882073
|
0.00137
|
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp)
|
rs114917863
|
0.00137
|
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)
|
rs79068489
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)
|
rs202211640
|
0.00137
|
NM_004100.5(EYA4):c.783G>A (p.Thr261=)
|
rs17854076
|
0.00136
|
NM_007078.3(LDB3):c.1422G>A (p.Ser474=)
|
rs142625982
|
0.00136
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser)
|
rs145506099
|
0.00136
|
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)
|
rs138153075
|
0.00135
|
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)
|
rs183447491
|
0.00135
|
NM_153700.2(STRC):c.5179G>C (p.Glu1727Gln)
|
rs141749062
|
0.00135
|
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)
|
rs148121889
|
0.00134
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
NM_001292063.2(OTOG):c.7353A>C (p.Gln2451His)
|
rs145833172
|
0.00134
|
NM_001378609.3(OTOGL):c.4906G>A (p.Glu1636Lys)
|
rs143817729
|
0.00134
|
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu)
|
rs145139708
|
0.00134
|
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro)
|
rs144261647
|
0.00134
|
NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly)
|
rs202059880
|
0.00133
|
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)
|
rs200431386
|
0.00133
|
NM_001267550.2(TTN):c.17183-9T>C
|
rs141687561
|
0.00133
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
NM_005422.4(TECTA):c.2418G>A (p.Leu806=)
|
rs138185038
|
0.00133
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_004415.4(DSP):c.3696C>A (p.Ser1232=)
|
rs141120358
|
0.00132
|
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val)
|
rs143930021
|
0.00132
|
NM_000432.4(MYL2):c.279G>A (p.Ala93=)
|
rs28645088
|
0.00131
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858
|
0.00131
|
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=)
|
rs200068167
|
0.00130
|
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)
|
rs114544564
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_001039141.3(TRIOBP):c.5224C>T (p.Leu1742Phe)
|
rs200493962
|
0.00129
|
NM_001039141.3(TRIOBP):c.5378A>C (p.Glu1793Ala)
|
rs147273930
|
0.00129
|
NM_001267550.2(TTN):c.32555-6T>C
|
rs375742678
|
0.00129
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_133379.5(TTN):c.14214C>T (p.Thr4738=)
|
rs147513899
|
0.00129
|
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile)
|
rs150016894
|
0.00129
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00128
|
NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser)
|
rs142006633
|
0.00128
|
NM_001330691.3(CEP78):c.103C>T (p.Arg35Cys)
|
rs200483715
|
0.00128
|
NM_001614.5(ACTG1):c.18C>T (p.Ala6=)
|
rs145211830
|
0.00128
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)
|
rs61736168
|
0.00127
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr)
|
rs548278514
|
0.00127
|
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile)
|
rs139779680
|
0.00127
|
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=)
|
rs146436765
|
0.00126
|
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)
|
rs142977481
|
0.00126
|
NM_001038603.3(MARVELD2):c.615C>T (p.Ala205=)
|
rs146796266
|
0.00126
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_001199107.2(TBC1D24):c.-7C>T
|
rs199852092
|
0.00126
|
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu)
|
rs199855270
|
0.00126
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly)
|
rs529972175
|
0.00125
|
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu)
|
rs200897149
|
0.00125
|
NM_001008216.2(GALE):c.873+13G>C
|
rs760941
|
0.00124
|
NM_001042492.3(NF1):c.4577+11C>G
|
rs190614908
|
0.00124
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
NM_001379180.1(ESRRB):c.1120+11C>T
|
rs116803435
|
0.00124
|
NM_004985.5(KRAS):c.-160A>G
|
rs727503111
|
0.00124
|
NM_004999.4(MYO6):c.2595C>T (p.Pro865=)
|
rs150876010
|
0.00124
|
NM_022124.6(CDH23):c.5067+15G>A
|
rs367928867
|
0.00124
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00124
|
NM_133379.5(TTN):c.10411G>A (p.Ala3471Thr)
|
rs149878929
|
0.00124
|
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg)
|
rs200770543
|
0.00124
|
NM_000414.4(HSD17B4):c.1210-8T>C
|
rs34254740
|
0.00123
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
NM_001039141.3(TRIOBP):c.5058C>G (p.Pro1686=)
|
rs113459040
|
0.00123
|
NM_001039141.3(TRIOBP):c.5380-14C>T
|
rs182214887
|
0.00123
|
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys)
|
rs72647862
|
0.00123
|
NM_002524.5(NRAS):c.225C>T (p.Gly75=)
|
rs142739534
|
0.00123
|
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=)
|
rs148968935
|
0.00123
|
NM_005422.4(TECTA):c.2123A>G (p.Lys708Arg)
|
rs144932466
|
0.00123
|
NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val)
|
rs147354818
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_022124.6(CDH23):c.2781C>T (p.Tyr927=)
|
rs375102725
|
0.00123
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)
|
rs45466399
|
0.00122
|
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr)
|
rs189893797
|
0.00122
|
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=)
|
rs371819104
|
0.00122
|
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His)
|
rs185432248
|
0.00122
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)
|
rs141552752
|
0.00121
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)
|
rs147831309
|
0.00121
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr)
|
rs140301218
|
0.00121
|
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)
|
rs144269892
|
0.00121
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)
|
rs11570082
|
0.00120
|
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=)
|
rs189243324
|
0.00120
|
NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=)
|
rs34716166
|
0.00120
|
NM_001199799.2(ILDR1):c.1305C>A (p.Ser435Arg)
|
rs35597690
|
0.00120
|
NM_002471.4(MYH6):c.*8T>C
|
rs201560522
|
0.00120
|
NM_022124.6(CDH23):c.2954-15C>T
|
rs376377077
|
0.00120
|
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=)
|
rs55807353
|
0.00120
|
NM_203447.4(DOCK8):c.3826G>T (p.Val1276Leu)
|
rs148796842
|
0.00120
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00119
|
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)
|
rs200971254
|
0.00119
|
NM_001292063.2(OTOG):c.2561+9C>T
|
rs528157125
|
0.00119
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_002473.6(MYH9):c.1158C>T (p.Thr386=)
|
rs138502859
|
0.00119
|
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)
|
rs142441725
|
0.00119
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00119
|
NM_001128840.3(CACNA1D):c.3168-6C>G
|
rs72556355
|
0.00118
|
NM_003672.4(CDC14A):c.192C>T (p.Cys64=)
|
rs201731089
|
0.00118
|
NM_016239.4(MYO15A):c.7908C>T (p.Ala2636=)
|
rs201535856
|
0.00118
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
NM_000335.5(SCN5A):c.4297-14T>C
|
rs56104887
|
0.00117
|
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_198999.3(SLC26A5):c.78G>A (p.Pro26=)
|
rs141436712
|
0.00117
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu)
|
rs147195954
|
0.00116
|
NM_002471.4(MYH6):c.1122G>A (p.Ala374=)
|
rs148091079
|
0.00116
|
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys)
|
rs149460065
|
0.00116
|
NM_003803.4(MYOM1):c.1952G>A (p.Arg651Gln)
|
rs184721031
|
0.00116
|
NM_000260.4(MYO7A):c.3864C>T (p.Ala1288=)
|
rs144657938
|
0.00115
|
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu)
|
rs41313681
|
0.00115
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)
|
rs200187681
|
0.00115
|
NM_000061.3(BTK):c.615G>T (p.Glu205Asp)
|
rs35877704
|
0.00114
|
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His)
|
rs144717803
|
0.00114
|
NM_004568.6(SERPINB6):c.708C>T (p.Asp236=)
|
rs144895010
|
0.00114
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00113
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
NM_001039876.3(SYNE4):c.257C>T (p.Pro86Leu)
|
rs200630302
|
0.00113
|
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=)
|
rs372019333
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)
|
rs34055850
|
0.00113
|
NM_144573.4(NEXN):c.1618A>G (p.Met540Val)
|
rs201390657
|
0.00113
|
NM_194248.3(OTOF):c.3734-13T>C
|
rs368329882
|
0.00113
|
NM_001145472.3(LOXHD1):c.3340G>A (p.Gly1114Arg)
|
rs142931455
|
0.00112
|
NM_080680.3(COL11A2):c.1612-10G>C
|
rs182657680
|
0.00112
|
NM_001366385.1(CARD14):c.2691+15G>A
|
rs200394665
|
0.00111
|
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu)
|
rs183159689
|
0.00111
|
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys)
|
rs138453255
|
0.00111
|
NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser)
|
rs199695398
|
0.00111
|
NM_017433.5(MYO3A):c.1566A>C (p.Gly522=)
|
rs139121564
|
0.00111
|
NM_022124.6(CDH23):c.6275C>T (p.Thr2092Ile)
|
rs145868749
|
0.00111
|
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser)
|
rs144417952
|
0.00110
|
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)
|
rs201835888
|
0.00110
|
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)
|
rs200343420
|
0.00110
|
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly)
|
rs145929269
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
|
rs149911553
|
0.00110
|
NM_006941.4(SOX10):c.72C>T (p.Ser24=)
|
rs763019569
|
0.00110
|
NM_016239.4(MYO15A):c.9691-3C>A
|
rs142996507
|
0.00110
|
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)
|
rs138380958
|
0.00110
|
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)
|
rs45489199
|
0.00109
|
NM_001292063.2(OTOG):c.6907C>T (p.Arg2303Cys)
|
rs568549806
|
0.00109
|
NM_000384.3(APOB):c.2068-4T>A
|
rs41291161
|
0.00108
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)
|
rs199560188
|
0.00108
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
NM_001267550.2(TTN):c.16055-9A>C
|
rs368897883
|
0.00108
|
NM_002471.4(MYH6):c.2430-14C>T
|
rs190342289
|
0.00108
|
NM_004415.4(DSP):c.2986-6T>A
|
rs144748036
|
0.00108
|
NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=)
|
rs876657451
|
0.00108
|
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=)
|
rs372846962
|
0.00108
|
NM_057176.3(BSND):c.177+15G>C
|
rs193020037
|
0.00108
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_001145809.2(MYH14):c.4417G>A (p.Val1473Met)
|
rs112716976
|
0.00107
|
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
|
rs199652066
|
0.00107
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=)
|
rs143049740
|
0.00107
|
NM_001614.5(ACTG1):c.72C>T (p.Asp24=)
|
rs139517777
|
0.00107
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=)
|
rs34827377
|
0.00106
|
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)
|
rs186699871
|
0.00106
|
NM_001614.5(ACTG1):c.531T>C (p.Arg177=)
|
rs143851458
|
0.00106
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
NM_001035.3(RYR2):c.1143C>T (p.Ser381=)
|
rs368844286
|
0.00105
|
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=)
|
rs145203578
|
0.00105
|
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met)
|
rs201167216
|
0.00105
|
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)
|
rs72646852
|
0.00105
|
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu)
|
rs200875379
|
0.00105
|
NM_001372106.1(DNAH10):c.9848C>T (p.Thr3283Met)
|
rs191384577
|
0.00105
|
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)
|
rs189255177
|
0.00105
|
NM_022124.6(CDH23):c.2865C>T (p.Arg955=)
|
rs79636933
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_000321.3(RB1):c.1961-12T>C
|
rs201697122
|
0.00104
|
NM_001035.3(RYR2):c.1135G>A (p.Val379Met)
|
rs199693714
|
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_017433.5(MYO3A):c.1500G>A (p.Ala500=)
|
rs146797033
|
0.00104
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_198999.3(SLC26A5):c.1233+14A>G
|
rs191459658
|
0.00104
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_001292063.2(OTOG):c.6012C>T (p.Asp2004=)
|
rs61734252
|
0.00103
|
NM_005379.4(MYO1A):c.2341A>G (p.Lys781Glu)
|
rs144384395
|
0.00103
|
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)
|
rs146555195
|
0.00103
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
NM_001134363.3(RBM20):c.280C>T (p.Leu94=)
|
rs182768779
|
0.00102
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=)
|
rs376917681
|
0.00102
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr)
|
rs144209883
|
0.00102
|
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln)
|
rs147967199
|
0.00102
|
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys)
|
rs149165620
|
0.00101
|
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=)
|
rs150266932
|
0.00101
|
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)
|
rs201005813
|
0.00101
|
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His)
|
rs192234924
|
0.00101
|
NM_022124.6(CDH23):c.4287C>T (p.Pro1429=)
|
rs377493327
|
0.00101
|
NM_033118.4(MYLK2):c.102A>G (p.Lys34=)
|
rs28763880
|
0.00101
|
NM_001267550.2(TTN):c.1776T>C (p.Asp592=)
|
rs147081804
|
0.00100
|
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)
|
rs150682764
|
0.00100
|
NM_001292063.2(OTOG):c.1286G>A (p.Arg429Gln)
|
rs528799547
|
0.00100
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala)
|
rs201104206
|
0.00100
|
NM_004568.6(SERPINB6):c.1095C>T (p.Asn365=)
|
rs145397970
|
0.00100
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His)
|
rs138846756
|
0.00099
|
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn)
|
rs201737186
|
0.00099
|
NM_020433.5(JPH2):c.1971G>A (p.Glu657=)
|
rs142333841
|
0.00099
|
NM_032578.4(MYPN):c.465C>G (p.Ala155=)
|
rs142867001
|
0.00099
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_001032283.3(TMPO):c.565+2224A>G
|
rs34983516
|
0.00098
|
NM_001145809.2(MYH14):c.1275C>T (p.Thr425=)
|
rs149221129
|
0.00098
|
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln)
|
rs113570783
|
0.00098
|
NM_001199799.2(ILDR1):c.225A>G (p.Ser75=)
|
rs146402126
|
0.00098
|
NM_002458.3(MUC5B):c.16273G>A (p.Gly5425Arg)
|
rs201746407
|
0.00098
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
NM_015404.4(WHRN):c.1149C>T (p.Thr383=)
|
rs149558159
|
0.00098
|
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln)
|
rs145019640
|
0.00098
|
NM_001039141.3(TRIOBP):c.4099C>T (p.Arg1367Trp)
|
rs191589773
|
0.00097
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)
|
rs150544093
|
0.00097
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00097
|
NM_004004.6(GJB2):c.-174C>G
|
rs541058463
|
0.00097
|
NM_032383.5(HPS3):c.51C>T (p.Pro17=)
|
rs141883346
|
0.00097
|
NM_206933.4(USH2A):c.3158-7A>G
|
rs201558076
|
0.00097
|
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)
|
rs193922382
|
0.00096
|
NM_000260.4(MYO7A):c.5259G>A (p.Lys1753=)
|
rs370062187
|
0.00096
|
NM_000503.6(EYA1):c.1199+13G>T
|
rs200345478
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=)
|
rs138680809
|
0.00096
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)
|
rs147207100
|
0.00096
|
NM_006012.4(CLPP):c.399C>T (p.Tyr133=)
|
rs140025832
|
0.00096
|
NM_006016.6(CD164):c.575G>A (p.Arg192Gln)
|
rs62436104
|
0.00096
|
NM_007078.3(LDB3):c.1653C>T (p.Cys551=)
|
rs45581435
|
0.00096
|
NM_016239.4(MYO15A):c.1387A>G (p.Met463Val)
|
rs201794569
|
0.00096
|
NM_017837.4(PIGV):c.348G>A (p.Leu116=)
|
rs148662665
|
0.00096
|
NM_032578.4(MYPN):c.1460-14T>A
|
rs201156035
|
0.00096
|
NM_032578.4(MYPN):c.2880T>G (p.Ser960=)
|
rs146028308
|
0.00096
|
NM_001039876.3(SYNE4):c.7C>T (p.Leu3=)
|
rs373148223
|
0.00095
|
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=)
|
rs149746093
|
0.00095
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_002471.4(MYH6):c.3303G>A (p.Val1101=)
|
rs143825034
|
0.00095
|
NM_007078.3(LDB3):c.993G>A (p.Ala331=)
|
rs140347820
|
0.00095
|
NM_017433.5(MYO3A):c.585+4A>T
|
rs202189844
|
0.00095
|
NM_022124.6(CDH23):c.8980-12C>T
|
rs111583276
|
0.00095
|
NM_001031679.3(MSRB3):c.114T>C (p.Phe38=)
|
rs114599476
|
0.00094
|
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn)
|
rs138452803
|
0.00094
|
NM_001267550.2(TTN):c.101936C>G (p.Pro33979Arg)
|
rs200238877
|
0.00094
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_006005.3(WFS1):c.1321G>A (p.Val441Met)
|
rs150894674
|
0.00094
|
NM_133379.5(TTN):c.14489A>G (p.Gln4830Arg)
|
rs144905085
|
0.00094
|
NM_000090.4(COL3A1):c.1051-13G>A
|
rs371934572
|
0.00093
|
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)
|
rs201337011
|
0.00093
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met)
|
rs145527033
|
0.00093
|
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)
|
rs201069672
|
0.00093
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
NM_003672.4(CDC14A):c.457-6T>C
|
rs202211124
|
0.00093
|
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)
|
rs148735953
|
0.00093
|
NM_032578.4(MYPN):c.734C>G (p.Ala245Gly)
|
rs143574079
|
0.00093
|
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp)
|
rs140542643
|
0.00093
|
NM_194248.3(OTOF):c.1530C>T (p.Ile510=)
|
rs150452778
|
0.00093
|
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=)
|
rs145151677
|
0.00093
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
NM_002471.4(MYH6):c.1083G>T (p.Gly361=)
|
rs138928022
|
0.00092
|
NM_022124.6(CDH23):c.4488+7C>T
|
rs374215303
|
0.00092
|
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met)
|
rs75813654
|
0.00091
|
NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=)
|
rs201843208
|
0.00091
|
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser)
|
rs147695488
|
0.00091
|
NM_001378609.3(OTOGL):c.4280-5T>C
|
rs200889330
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_014000.3(VCL):c.660C>T (p.Asn220=)
|
rs56264452
|
0.00091
|
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)
|
rs111033366
|
0.00091
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00090
|
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)
|
rs55938627
|
0.00090
|
NM_001267550.2(TTN):c.25351+13C>G
|
rs138362885
|
0.00090
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=)
|
rs111588500
|
0.00090
|
NM_002230.4(JUP):c.567C>T (p.Val189=)
|
rs35297577
|
0.00090
|
NM_002471.4(MYH6):c.3297G>A (p.Glu1099=)
|
rs144957142
|
0.00090
|
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser)
|
rs61746118
|
0.00089
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=)
|
rs146442638
|
0.00089
|
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)
|
rs142890313
|
0.00089
|
NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr)
|
rs140064945
|
0.00089
|
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser)
|
rs192944055
|
0.00088
|
NM_001384474.1(LOXHD1):c.3449A>G (p.Gln1150Arg)
|
rs201576880
|
0.00088
|
NM_002471.4(MYH6):c.3978+8C>T
|
rs367866050
|
0.00088
|
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=)
|
rs76069100
|
0.00088
|
NM_002473.6(MYH9):c.615C>T (p.Gly205=)
|
rs139466141
|
0.00088
|
NM_002880.4(RAF1):c.1830A>G (p.Gln610=)
|
rs141791080
|
0.00088
|
NM_004999.4(MYO6):c.2175A>G (p.Lys725=)
|
rs116571790
|
0.00088
|
NM_022114.4(PRDM16):c.1134C>G (p.Ser378=)
|
rs200169663
|
0.00088
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_144573.4(NEXN):c.1252-10T>G
|
rs201019553
|
0.00088
|
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=)
|
rs373182578
|
0.00087
|
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His)
|
rs189248390
|
0.00087
|
NM_001378373.1(MBL2):c.132C>T (p.Asn44=)
|
rs34120190
|
0.00087
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=)
|
rs564053026
|
0.00087
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_001039213.4(CEACAM16):c.519C>T (p.Val173=)
|
rs114645388
|
0.00086
|
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)
|
rs146731467
|
0.00086
|
NM_001110219.3(GJB6):c.607A>G (p.Met203Val)
|
rs200674715
|
0.00086
|
NM_001145809.2(MYH14):c.1992G>A (p.Pro664=)
|
rs192745436
|
0.00086
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=)
|
rs186105748
|
0.00086
|
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=)
|
rs147419066
|
0.00086
|
NM_014000.3(VCL):c.1572C>T (p.Ala524=)
|
rs138566234
|
0.00086
|
NM_016203.4(PRKAG2):c.1584+7C>T
|
rs111627309
|
0.00086
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00086
|
NM_017433.5(MYO3A):c.177C>T (p.Asp59=)
|
rs139958275
|
0.00085
|
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)
|
rs150549897
|
0.00085
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
NM_001018116.2(CAVIN4):c.692G>A (p.Arg231Lys)
|
rs114540433
|
0.00084
|
NM_001035.3(RYR2):c.231G>A (p.Ala77=)
|
rs376225470
|
0.00084
|
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser)
|
rs142977595
|
0.00084
|
NM_001330691.3(CEP78):c.1194A>G (p.Ala398=)
|
rs138501486
|
0.00084
|
NM_015404.4(WHRN):c.1992G>A (p.Pro664=)
|
rs142568702
|
0.00084
|
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=)
|
rs34803755
|
0.00084
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_001032283.3(TMPO):c.1119G>A (p.Arg373=)
|
rs144913822
|
0.00083
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg)
|
rs140201636
|
0.00083
|
NM_002473.6(MYH9):c.1242C>T (p.Ile414=)
|
rs138436678
|
0.00083
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_022124.6(CDH23):c.7463G>A (p.Arg2488His)
|
rs148149598
|
0.00083
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=)
|
rs139647701
|
0.00083
|
NM_000257.4(MYH7):c.1395C>T (p.Phe465=)
|
rs45508293
|
0.00082
|
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)
|
rs72647541
|
0.00082
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_004700.4(KCNQ4):c.465A>C (p.Gly155=)
|
rs145129529
|
0.00082
|
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser)
|
rs139592595
|
0.00082
|
NM_080680.3(COL11A2):c.4015-8T>C
|
rs377001136
|
0.00082
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00081
|
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)
|
rs202108224
|
0.00081
|
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu)
|
rs200049911
|
0.00081
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)
|
rs139258361
|
0.00081
|
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val)
|
rs145538358
|
0.00081
|
NM_007214.5(SEC63):c.340-7T>C
|
rs1569557
|
0.00081
|
NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser)
|
rs199998420
|
0.00081
|
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)
|
rs115143295
|
0.00081
|
NM_153676.4(USH1C):c.114C>T (p.Asp38=)
|
rs137962152
|
0.00081
|
NM_153700.2(STRC):c.4157T>C (p.Val1386Ala)
|
rs377674360
|
0.00081
|
NM_181458.4(PAX3):c.982G>A (p.Val328Ile)
|
rs149799356
|
0.00081
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=)
|
rs150286388
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_001039876.3(SYNE4):c.1020G>A (p.Glu340=)
|
rs186898202
|
0.00080
|
NM_001267550.2(TTN):c.32807-10T>A
|
rs138192315
|
0.00080
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00080
|
NM_001378609.3(OTOGL):c.3020T>C (p.Val1007Ala)
|
rs202051419
|
0.00080
|
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)
|
rs147576439
|
0.00080
|
NM_004517.4(ILK):c.65A>G (p.Asn22Ser)
|
rs114115159
|
0.00080
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
NM_007373.4(SHOC2):c.-179T>A
|
rs143180451
|
0.00080
|
NM_153676.4(USH1C):c.2184+10T>C
|
rs200889109
|
0.00080
|
NM_173477.5(USH1G):c.705G>A (p.Glu235=)
|
rs149002004
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)
|
rs183898408
|
0.00079
|
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His)
|
rs139375212
|
0.00079
|
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)
|
rs200532919
|
0.00079
|
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)
|
rs143342988
|
0.00079
|
NM_000091.5(COL4A3):c.573T>C (p.Pro191=)
|
rs375503109
|
0.00078
|
NM_000257.4(MYH7):c.261C>T (p.Ile87=)
|
rs148560996
|
0.00078
|
NM_001006630.2(CHRM2):c.1114C>G (p.Pro372Ala)
|
rs138806839
|
0.00078
|
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=)
|
rs142559688
|
0.00078
|
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)
|
rs150069819
|
0.00078
|
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)
|
rs200588338
|
0.00078
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00078
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
NM_001267550.2(TTN):c.98683+7G>C
|
rs141150066
|
0.00078
|
NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile)
|
rs569603083
|
0.00078
|
NM_001363118.2(SLC52A2):c.1066C>T (p.Leu356=)
|
rs138107380
|
0.00078
|
NM_001371333.1(DIABLO):c.8C>G (p.Ala3Gly)
|
rs202028496
|
0.00078
|
NM_002473.6(MYH9):c.1843+14C>A
|
rs372865551
|
0.00078
|
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)
|
rs184043065
|
0.00078
|
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)
|
rs200946170
|
0.00078
|
NM_032119.4(ADGRV1):c.10952A>G (p.Tyr3651Cys)
|
rs200106260
|
0.00078
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
NM_000258.3(MYL3):c.559+6C>T
|
rs199474709
|
0.00077
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
NM_001371333.1(DIABLO):c.546C>T (p.Thr182=)
|
rs149387774
|
0.00077
|
NM_016239.4(MYO15A):c.969G>A (p.Ser323=)
|
rs371387378
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_144573.4(NEXN):c.777A>G (p.Gln259=)
|
rs375544798
|
0.00077
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
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_000432.4(MYL2):c.36C>T (p.Gly12=)
|
rs139794370
|
0.00076
|
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)
|
rs142036299
|
0.00076
|
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
|
rs148551876
|
0.00076
|
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)
|
rs143368674
|
0.00076
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)
|
rs201285872
|
0.00076
|
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp)
|
rs61734125
|
0.00076
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_003803.4(MYOM1):c.5019C>T (p.Ala1673=)
|
rs199980922
|
0.00076
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
NM_024915.4(GRHL2):c.804C>T (p.Thr268=)
|
rs55682875
|
0.00076
|
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)
|
rs139404261
|
0.00076
|
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)
|
rs201236317
|
0.00076
|
NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu)
|
rs138583865
|
0.00076
|
NM_144991.3(TSPEAR):c.1515G>A (p.Ser505=)
|
rs150444121
|
0.00076
|
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)
|
rs111033450
|
0.00076
|
NM_207034.3(EDN3):c.588+48C>T
|
rs200659956
|
0.00076
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
NM_001039213.4(CEACAM16):c.999C>T (p.Asp333=)
|
rs200767877
|
0.00075
|
NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=)
|
rs375866139
|
0.00075
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
NM_014000.3(VCL):c.1348A>C (p.Arg450=)
|
rs142128712
|
0.00075
|
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)
|
rs754894988
|
0.00075
|
NM_022124.6(CDH23):c.4512C>G (p.Thr1504=)
|
rs562273075
|
0.00075
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00074
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
NM_003280.3(TNNC1):c.201C>T (p.Asp67=)
|
rs150881554
|
0.00074
|
NM_005188.4(CBL):c.1641T>C (p.Pro547=)
|
rs61755280
|
0.00074
|
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile)
|
rs61758992
|
0.00074
|
NM_014908.4(DOLK):c.671A>T (p.Asp224Val)
|
rs17485436
|
0.00074
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00074
|
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)
|
rs138553244
|
0.00074
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_000501.4(ELN):c.212C>T (p.Ala71Val)
|
rs41350445
|
0.00073
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
NM_001114753.3(ENG):c.219+22C>T
|
rs370257876
|
0.00073
|
NM_001384140.1(PCDH15):c.1653G>A (p.Gly551=)
|
rs141281651
|
0.00073
|
NM_001384140.1(PCDH15):c.243G>A (p.Val81=)
|
rs151119732
|
0.00073
|
NM_001384474.1(LOXHD1):c.2684C>G (p.Thr895Ser)
|
rs115042043
|
0.00073
|
NM_002458.3(MUC5B):c.14584G>A (p.Gly4862Ser)
|
rs191989562
|
0.00073
|
NM_005422.4(TECTA):c.2604G>T (p.Thr868=)
|
rs139509847
|
0.00073
|
NM_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp)
|
rs201028204
|
0.00073
|
NM_144991.3(TSPEAR):c.1107G>A (p.Thr369=)
|
rs145868820
|
0.00073
|
NM_194248.3(OTOF):c.2076G>T (p.Arg692=)
|
rs138769870
|
0.00073
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00072
|
NM_001105206.3(LAMA4):c.2950G>A (p.Val984Ile)
|
rs145648026
|
0.00072
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00072
|
NM_001292063.2(OTOG):c.3006+11G>A
|
rs150247729
|
0.00072
|
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn)
|
rs112430701
|
0.00072
|
NM_017433.5(MYO3A):c.546G>T (p.Arg182=)
|
rs148349532
|
0.00072
|
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=)
|
rs148291450
|
0.00072
|
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=)
|
rs151229044
|
0.00072
|
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)
|
rs201667254
|
0.00072
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=)
|
rs377283955
|
0.00071
|
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)
|
rs1805125
|
0.00071
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)
|
rs199910006
|
0.00071
|
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn)
|
rs111033261
|
0.00071
|
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)
|
rs55838839
|
0.00071
|
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)
|
rs201388780
|
0.00071
|
NM_014908.4(DOLK):c.1314C>T (p.Leu438=)
|
rs148118523
|
0.00071
|
NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=)
|
rs200594132
|
0.00070
|
NM_000551.4(VHL):c.150C>G (p.Ala50=)
|
rs61751580
|
0.00070
|
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr)
|
rs139520402
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001292063.2(OTOG):c.3229A>G (p.Ile1077Val)
|
rs56359117
|
0.00070
|
NM_001369.3(DNAH5):c.8224+15G>A
|
rs148099176
|
0.00070
|
NM_001692.4(ATP6V1B1):c.688-7T>C
|
rs193240706
|
0.00070
|
NM_006073.4(TRDN):c.84C>T (p.Pro28=)
|
rs145992727
|
0.00070
|
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln)
|
rs200546031
|
0.00070
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=)
|
rs145934142
|
0.00070
|
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser)
|
rs142307980
|
0.00070
|
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)
|
rs138130914
|
0.00070
|
NM_206933.4(USH2A):c.5409C>G (p.Val1803=)
|
rs140326085
|
0.00070
|
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)
|
rs201834743
|
0.00069
|
NM_000363.5(TNNI3):c.25-4C>T
|
rs202086705
|
0.00069
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)
|
rs139717960
|
0.00069
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)
|
rs201366522
|
0.00069
|
NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=)
|
rs146832858
|
0.00069
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731
|
0.00069
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)
|
rs183923129
|
0.00068
|
NM_001283009.2(RTEL1):c.1349-13C>T
|
rs376698655
|
0.00068
|
NM_001283009.2(RTEL1):c.1349-14C>T
|
rs373301404
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met)
|
rs145502954
|
0.00068
|
NM_005379.4(MYO1A):c.659G>A (p.Arg220Gln)
|
rs114674819
|
0.00068
|
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser)
|
rs139185707
|
0.00068
|
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=)
|
rs139965967
|
0.00068
|
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=)
|
rs150237947
|
0.00067
|
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr)
|
rs545740473
|
0.00067
|
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=)
|
rs144290224
|
0.00067
|
NM_001734.5(C1S):c.1284C>G (p.Pro428=)
|
rs144851896
|
0.00067
|
NM_002458.3(MUC5B):c.17044G>A (p.Glu5682Lys)
|
rs200719329
|
0.00067
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821
|
0.00067
|
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln)
|
rs147088274
|
0.00067
|
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=)
|
rs147037435
|
0.00067
|
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_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_001347886.2(DNAH3):c.1842T>C (p.Asp614=)
|
rs144106056
|
0.00066
|
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153
|
0.00066
|
NM_002458.3(MUC5B):c.3846C>T (p.Gly1282=)
|
rs141821939
|
0.00066
|
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)
|
rs77416370
|
0.00066
|
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)
|
rs151036570
|
0.00066
|
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=)
|
rs144179406
|
0.00066
|
NM_002473.6(MYH9):c.591G>A (p.Ser197=)
|
rs140241271
|
0.00066
|
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)
|
rs574196735
|
0.00066
|
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)
|
rs201416399
|
0.00066
|
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=)
|
rs200463088
|
0.00065
|
NM_002471.4(MYH6):c.1779C>A (p.Gly593=)
|
rs190996339
|
0.00065
|
NM_006393.3(NEBL):c.994G>A (p.Val332Ile)
|
rs150518045
|
0.00065
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=)
|
rs201338158
|
0.00065
|
NM_030662.4(MAP2K2):c.1093-6T>C
|
rs369681843
|
0.00065
|
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)
|
rs139921272
|
0.00065
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)
|
rs144465613
|
0.00064
|
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)
|
rs111033229
|
0.00064
|
NM_000335.5(SCN5A):c.630G>A (p.Val210=)
|
rs193922727
|
0.00064
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)
|
rs72648266
|
0.00064
|
NM_001384474.1(LOXHD1):c.1162A>G (p.Ile388Val)
|
rs115395163
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_003803.4(MYOM1):c.5001G>A (p.Glu1667=)
|
rs376007739
|
0.00064
|
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser)
|
rs144918959
|
0.00064
|
NM_153700.2(STRC):c.4399G>A (p.Val1467Ile)
|
rs147447264
|
0.00064
|
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=)
|
rs138294643
|
0.00063
|
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=)
|
rs368930040
|
0.00063
|
NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala)
|
rs200529550
|
0.00063
|
NM_001146079.2(CLDN14):c.471G>A (p.Lys157=)
|
rs146860442
|
0.00063
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
NM_001267550.2(TTN):c.6790+12C>T
|
rs200187117
|
0.00063
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_001292063.2(OTOG):c.879C>T (p.Asp293=)
|
rs144220847
|
0.00063
|
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr)
|
rs376122149
|
0.00063
|
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=)
|
rs145486636
|
0.00063
|
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp)
|
rs144783536
|
0.00063
|
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)
|
rs142433421
|
0.00063
|
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val)
|
rs199740747
|
0.00063
|
NM_022124.6(CDH23):c.1185C>T (p.Ser395=)
|
rs185105210
|
0.00063
|
NM_032578.4(MYPN):c.2703+13G>A
|
rs375320760
|
0.00063
|
NM_033360.4(KRAS):c.-48_-29dup
|
rs730880342
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
NM_001145809.2(MYH14):c.2680C>A (p.Arg894=)
|
rs34805056
|
0.00062
|
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe)
|
rs148426950
|
0.00062
|
NM_015404.4(WHRN):c.2322C>T (p.Ser774=)
|
rs55966714
|
0.00062
|
NM_016239.4(MYO15A):c.5532-10C>T
|
rs200169924
|
0.00062
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
NM_001039141.3(TRIOBP):c.5166C>G (p.Asp1722Glu)
|
rs183189469
|
0.00061
|
NM_001164375.3(C10orf105):c.*3111C>T
|
rs187975106
|
0.00061
|
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=)
|
rs150917752
|
0.00061
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)
|
rs370036981
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser)
|
rs368261417
|
0.00061
|
NM_001368067.1(LDB3):c.780C>T (p.Asn260=)
|
rs372789789
|
0.00061
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
NM_002473.6(MYH9):c.4344+10C>T
|
rs200977419
|
0.00061
|
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=)
|
rs144166521
|
0.00061
|
NM_018139.3(DNAAF2):c.423C>T (p.Val141=)
|
rs373251065
|
0.00061
|
NM_022124.6(CDH23):c.9198+13C>T
|
rs375384238
|
0.00061
|
NM_153676.4(USH1C):c.1086-13G>T
|
rs200490320
|
0.00061
|
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)
|
rs148504065
|
0.00061
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
NM_016366.3(CABP2):c.638-10G>A
|
rs188811948
|
0.00060
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
NM_032383.5(HPS3):c.1152C>T (p.His384=)
|
rs113381494
|
0.00060
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00059
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=)
|
rs72648216
|
0.00059
|
NM_024915.4(GRHL2):c.689G>A (p.Ser230Asn)
|
rs140423160
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_133261.3(GIPC3):c.207C>T (p.Phe69=)
|
rs727504653
|
0.00059
|
NM_133379.5(TTN):c.10920T>C (p.Ser3640=)
|
rs142585268
|
0.00059
|
NM_138691.3(TMC1):c.1566+8C>T
|
rs202184917
|
0.00059
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=)
|
rs200663253
|
0.00058
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)
|
rs200793989
|
0.00058
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=)
|
rs542151771
|
0.00058
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
NM_002764.4(PRPS1):c.942C>T (p.Ser314=)
|
rs147731055
|
0.00058
|
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=)
|
rs202166096
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_206933.4(USH2A):c.485+12T>C
|
rs201857884
|
0.00058
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)
|
rs140220538
|
0.00057
|
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=)
|
rs138477419
|
0.00057
|
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys)
|
rs71524353
|
0.00057
|
NM_001110219.3(GJB6):c.405G>A (p.Thr135=)
|
rs145438428
|
0.00056
|
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=)
|
rs373587801
|
0.00056
|
NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn)
|
rs201567815
|
0.00056
|
NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser)
|
rs199891245
|
0.00056
|
NM_001379180.1(ESRRB):c.*1535G>A
|
rs200237229
|
0.00056
|
NM_004999.4(MYO6):c.875T>C (p.Leu292Ser)
|
rs144038082
|
0.00056
|
NM_015340.4(LARS2):c.1989G>T (p.Arg663=)
|
rs139111439
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_022124.6(CDH23):c.1514+13C>T
|
rs376369708
|
0.00056
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060
|
0.00056
|
NM_032578.4(MYPN):c.1935C>T (p.Pro645=)
|
rs71535754
|
0.00056
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=)
|
rs368221517
|
0.00055
|
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)
|
rs199868951
|
0.00055
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
NM_002473.6(MYH9):c.3216G>A (p.Ala1072=)
|
rs139441456
|
0.00055
|
NM_004086.3(COCH):c.429A>G (p.Pro143=)
|
rs147841606
|
0.00055
|
NM_004281.4(BAG3):c.870C>G (p.Pro290=)
|
rs140737221
|
0.00055
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00055
|
NM_016203.4(PRKAG2):c.1106+9G>C
|
rs200429988
|
0.00055
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)
|
rs138574576
|
0.00054
|
NM_000257.4(MYH7):c.3777C>T (p.His1259=)
|
rs149103761
|
0.00054
|
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys)
|
rs142257684
|
0.00054
|
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)
|
rs200529923
|
0.00054
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys)
|
rs141169746
|
0.00054
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=)
|
rs727505358
|
0.00054
|
NM_002473.6(MYH9):c.1566G>A (p.Pro522=)
|
rs145517108
|
0.00054
|
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=)
|
rs140749690
|
0.00054
|
NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr)
|
rs140623300
|
0.00054
|
NM_003803.4(MYOM1):c.2064G>A (p.Thr688=)
|
rs374462999
|
0.00054
|
NM_005379.4(MYO1A):c.376G>A (p.Glu126Lys)
|
rs151045364
|
0.00054
|
NM_006393.3(NEBL):c.1008+8C>G
|
rs376842299
|
0.00054
|
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr)
|
rs201968775
|
0.00054
|
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr)
|
rs45539535
|
0.00054
|
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser)
|
rs727504512
|
0.00054
|
NM_016239.4(MYO15A):c.7473+10G>T
|
rs181355572
|
0.00054
|
NM_016366.3(CABP2):c.379+11C>T
|
rs147530804
|
0.00054
|
NM_173628.4(DNAH17):c.5217G>A (p.Thr1739=)
|
rs376047406
|
0.00054
|
NM_182548.4(LHFPL5):c.615G>C (p.Lys205Asn)
|
rs149081163
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=)
|
rs140749530
|
0.00053
|
NM_001330.5(CTF1):c.280C>T (p.Leu94=)
|
rs397516648
|
0.00053
|
NM_001614.5(ACTG1):c.774G>A (p.Pro258=)
|
rs61997068
|
0.00053
|
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)
|
rs142004123
|
0.00053
|
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)
|
rs147500559
|
0.00053
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00053
|
NM_022124.6(CDH23):c.1446C>A (p.Val482=)
|
rs200324241
|
0.00053
|
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile)
|
rs200786014
|
0.00053
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00053
|
NM_147196.3(TMIE):c.219G>A (p.Thr73=)
|
rs202208051
|
0.00053
|
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu)
|
rs147393144
|
0.00053
|
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu)
|
rs144045691
|
0.00052
|
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val)
|
rs149615862
|
0.00052
|
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)
|
rs201804323
|
0.00052
|
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)
|
rs199798449
|
0.00052
|
NM_005379.4(MYO1A):c.2302C>T (p.Arg768Trp)
|
rs143613424
|
0.00052
|
NM_194248.3(OTOF):c.237G>A (p.Gly79=)
|
rs117985483
|
0.00052
|
NM_000260.4(MYO7A):c.486C>T (p.Ala162=)
|
rs367687624
|
0.00051
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)
|
rs370297602
|
0.00051
|
NM_001103.4(ACTN2):c.927C>T (p.Pro309=)
|
rs145411160
|
0.00051
|
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=)
|
rs35772073
|
0.00051
|
NM_001195248.2(APTX):c.484-13del
|
rs754565169
|
0.00051
|
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)
|
rs139814109
|
0.00051
|
NM_001256317.3(TMPRSS3):c.347T>C (p.Val116Ala)
|
rs201007237
|
0.00051
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)
|
rs192788942
|
0.00051
|
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser)
|
rs543999548
|
0.00051
|
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met)
|
rs542442173
|
0.00051
|
NM_001367479.1(DNAH14):c.7830T>C (p.Asp2610=)
|
rs560792252
|
0.00051
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
NM_003803.4(MYOM1):c.2656A>G (p.Ser886Gly)
|
rs199900004
|
0.00051
|
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr)
|
rs147042608
|
0.00051
|
NM_015340.4(LARS2):c.2211T>C (p.Ser737=)
|
rs371382425
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_017780.4(CHD7):c.2829G>A (p.Glu943=)
|
rs374877439
|
0.00051
|
NM_020297.4(ABCC9):c.372T>C (p.Asn124=)
|
rs377384557
|
0.00051
|
NM_022114.4(PRDM16):c.142G>A (p.Val48Met)
|
rs199968728
|
0.00051
|
NM_022124.6(CDH23):c.67+8C>T
|
rs186548927
|
0.00051
|
NM_144991.3(TSPEAR):c.1698C>T (p.Tyr566=)
|
rs62218852
|
0.00051
|
NM_144991.3(TSPEAR):c.943G>A (p.Val315Met)
|
rs148421362
|
0.00051
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_001077365.2(POMT1):c.42C>T (p.Asp14=)
|
rs150937126
|
0.00050
|
NM_001146079.2(CLDN14):c.690C>T (p.His230=)
|
rs149733854
|
0.00050
|
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)
|
rs200825430
|
0.00050
|
NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=)
|
rs147229014
|
0.00050
|
NM_005422.4(TECTA):c.1509C>T (p.Cys503=)
|
rs61733565
|
0.00050
|
NM_005633.4(SOS1):c.345+12_345+13dup
|
rs397517167
|
0.00050
|
NM_000257.4(MYH7):c.2907C>T (p.His969=)
|
rs142573531
|
0.00049
|
NM_000260.4(MYO7A):c.5559C>T (p.His1853=)
|
rs373612656
|
0.00049
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
NM_001105206.3(LAMA4):c.1668+9G>A
|
rs201457182
|
0.00049
|
NM_001105206.3(LAMA4):c.4665+15G>A
|
rs377415750
|
0.00049
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)
|
rs370080995
|
0.00049
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
NM_001378609.3(OTOGL):c.119+7A>G
|
rs753923439
|
0.00049
|
NM_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
NM_002230.4(JUP):c.297G>A (p.Ser99=)
|
rs200976464
|
0.00049
|
NM_004230.4(S1PR2):c.923C>T (p.Pro308Leu)
|
rs200973983
|
0.00049
|
NM_005633.4(SOS1):c.1203-13T>A
|
rs145166996
|
0.00049
|
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile)
|
rs201734915
|
0.00049
|
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys)
|
rs140154015
|
0.00049
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00049
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_206933.4(USH2A):c.8805C>T (p.Val2935=)
|
rs111033534
|
0.00049
|
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=)
|
rs374510402
|
0.00048
|
NM_000138.5(FBN1):c.5065+10A>G
|
rs375945405
|
0.00048
|
NM_000258.3(MYL3):c.482-14C>A
|
rs201780962
|
0.00048
|
NM_000503.6(EYA1):c.1699-8T>C
|
rs201537030
|
0.00048
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
NM_001103.4(ACTN2):c.1519A>G (p.Met507Val)
|
rs144553482
|
0.00048
|
NM_001103.4(ACTN2):c.2367+8A>G
|
rs112714025
|
0.00048
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp)
|
rs559512010
|
0.00048
|
NM_001292063.2(OTOG):c.7209C>T (p.Ser2403=)
|
rs56236649
|
0.00048
|
NM_001292063.2(OTOG):c.8322C>T (p.Cys2774=)
|
rs539684481
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=)
|
rs202020722
|
0.00048
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00048
|
NM_032119.4(ADGRV1):c.15240T>C (p.Asn5080=)
|
rs375911753
|
0.00048
|
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)
|
rs145499180
|
0.00048
|
NM_080680.3(COL11A2):c.2431-11G>A
|
rs368695514
|
0.00048
|
NM_153700.2(STRC):c.4749G>T (p.Val1583=)
|
rs770417511
|
0.00048
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_194248.3(OTOF):c.1020C>T (p.Asp340=)
|
rs138250704
|
0.00048
|
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=)
|
rs147321712
|
0.00048
|
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)
|
rs193068692
|
0.00047
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
NM_015340.4(LARS2):c.1008C>T (p.Val336=)
|
rs142803778
|
0.00047
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
NM_022124.6(CDH23):c.4947G>A (p.Thr1649=)
|
rs373046094
|
0.00047
|
NM_024915.4(GRHL2):c.454G>A (p.Val152Met)
|
rs147703146
|
0.00047
|
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
|
rs146445078
|
0.00047
|
NM_206933.4(USH2A):c.9258+15T>C
|
rs181894778
|
0.00047
|
NM_000335.5(SCN5A):c.3663+10T>C
|
rs200656652
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_001031679.3(MSRB3):c.-110C>T
|
rs150572160
|
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_001035.3(RYR2):c.7233C>T (p.Ala2411=)
|
rs367994477
|
0.00046
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
NM_001267550.2(TTN):c.65276-8T>C
|
rs377484398
|
0.00046
|
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys)
|
rs201272728
|
0.00046
|
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=)
|
rs151274810
|
0.00046
|
NM_001379180.1(ESRRB):c.949G>A (p.Asp317Asn)
|
rs145982062
|
0.00046
|
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys)
|
rs199518750
|
0.00046
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
NM_005228.5(EGFR):c.2289C>G (p.Ala763=)
|
rs117420095
|
0.00046
|
NM_005228.5(EGFR):c.2748C>T (p.Asp916=)
|
rs41396448
|
0.00046
|
NM_005379.4(MYO1A):c.1340G>A (p.Arg447Gln)
|
rs138679694
|
0.00046
|
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro)
|
rs201826872
|
0.00046
|
NM_022114.4(PRDM16):c.3110-4G>A
|
rs201495178
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_144672.4(OTOA):c.120+10C>G
|
rs200215069
|
0.00046
|
NM_144991.3(TSPEAR):c.1878C>T (p.Phe626=)
|
rs150268113
|
0.00046
|
NM_174878.3(CLRN1):c.433+1106T>C
|
rs140407590
|
0.00046
|
NM_181458.4(PAX3):c.9G>A (p.Thr3=)
|
rs377366463
|
0.00046
|
NM_000091.5(COL4A3):c.2826C>T (p.Pro942=)
|
rs201064766
|
0.00045
|
NM_001146079.2(CLDN14):c.102G>A (p.Ala34=)
|
rs146395322
|
0.00045
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)
|
rs141027782
|
0.00045
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
NM_001292063.2(OTOG):c.94+75G>T
|
rs550807341
|
0.00045
|
NM_001378609.3(OTOGL):c.4146C>A (p.Pro1382=)
|
rs374853700
|
0.00045
|
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)
|
rs146796009
|
0.00045
|
NM_002471.4(MYH6):c.1141+8G>T
|
rs377327277
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_014908.4(DOLK):c.525T>G (p.Val175=)
|
rs200278288
|
0.00045
|
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile)
|
rs141011840
|
0.00045
|
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln)
|
rs139193948
|
0.00045
|
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=)
|
rs183834387
|
0.00045
|
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)
|
rs111033522
|
0.00045
|
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln)
|
rs199514829
|
0.00045
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
NM_144573.4(NEXN):c.732C>A (p.Pro244=)
|
rs201171783
|
0.00045
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His)
|
rs139146419
|
0.00044
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_004817.4(TJP2):c.2880+19C>T
|
rs200384355
|
0.00044
|
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
NM_014000.3(VCL):c.1237G>A (p.Ala413Thr)
|
rs146278697
|
0.00044
|
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=)
|
rs35541310
|
0.00044
|
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile)
|
rs201364852
|
0.00044
|
NM_080680.3(COL11A2):c.480T>G (p.Ser160=)
|
rs142969513
|
0.00044
|
NM_138691.3(TMC1):c.1602C>G (p.Thr534=)
|
rs111033462
|
0.00044
|
NM_170682.4(P2RX2):c.1176T>C (p.Pro392=)
|
rs189869132
|
0.00044
|
NM_194248.3(OTOF):c.894C>T (p.Asn298=)
|
rs112794890
|
0.00044
|
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=)
|
rs191358470
|
0.00044
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=)
|
rs200162906
|
0.00043
|
NM_000260.4(MYO7A):c.1422G>A (p.Gln474=)
|
rs201332147
|
0.00043
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=)
|
rs138870926
|
0.00043
|
NM_001031679.3(MSRB3):c.-95C>T
|
rs149757878
|
0.00043
|
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)
|
rs138980048
|
0.00043
|
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=)
|
rs375811590
|
0.00043
|
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)
|
rs367732133
|
0.00043
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00043
|
NM_001378609.3(OTOGL):c.792A>G (p.Gln264=)
|
rs144176460
|
0.00043
|
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=)
|
rs149481989
|
0.00043
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
NM_005379.4(MYO1A):c.2228T>C (p.Ile743Thr)
|
rs145027196
|
0.00043
|
NM_000256.3(MYBPC3):c.926+8C>T
|
rs377595584
|
0.00042
|
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)
|
rs200285003
|
0.00042
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_003803.4(MYOM1):c.2385-13G>A
|
rs116126674
|
0.00042
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)
|
rs200606811
|
0.00042
|
NM_005219.5(DIAPH1):c.2358+15C>G
|
rs375375478
|
0.00042
|
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp)
|
rs144009842
|
0.00042
|
NM_006073.4(TRDN):c.546G>A (p.Lys182=)
|
rs377594350
|
0.00042
|
NM_133379.5(TTN):c.10617T>C (p.His3539=)
|
rs200284932
|
0.00042
|
NM_133379.5(TTN):c.14616C>T (p.Ser4872=)
|
rs148105798
|
0.00042
|
NM_000091.5(COL4A3):c.21C>A (p.Pro7=)
|
rs530353117
|
0.00041
|
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)
|
rs189991547
|
0.00041
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser)
|
rs35874056
|
0.00041
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
NM_001267550.2(TTN):c.30433+11T>G
|
rs199848546
|
0.00041
|
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)
|
rs374281025
|
0.00041
|
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=)
|
rs186402008
|
0.00041
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=)
|
rs144810195
|
0.00041
|
NM_004817.4(TJP2):c.918C>T (p.Ile306=)
|
rs374523970
|
0.00041
|
NM_005422.4(TECTA):c.2299C>A (p.Arg767=)
|
rs140534420
|
0.00041
|
NM_006005.3(WFS1):c.2202C>T (p.Leu734=)
|
rs140427062
|
0.00041
|
NM_016239.4(MYO15A):c.7068C>T (p.Asp2356=)
|
rs373935449
|
0.00041
|
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val)
|
rs56261037
|
0.00041
|
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=)
|
rs370184182
|
0.00041
|
NM_024334.3(TMEM43):c.45C>A (p.Val15=)
|
rs150334659
|
0.00041
|
NM_024747.6(HPS6):c.2250G>A (p.Ser750=)
|
rs139161525
|
0.00041
|
NM_144573.4(NEXN):c.1785C>T (p.Asp595=)
|
rs182998780
|
0.00041
|
NM_206933.4(USH2A):c.10470G>T (p.Val3490=)
|
rs201401001
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
NM_001039141.3(TRIOBP):c.4103G>A (p.Arg1368Gln)
|
rs182816010
|
0.00040
|
NM_001039141.3(TRIOBP):c.6324+235C>T
|
rs146823511
|
0.00040
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp)
|
rs200215464
|
0.00040
|
NM_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00040
|
NM_005159.5(ACTC1):c.219C>T (p.Ile73=)
|
rs376566924
|
0.00040
|
NM_006005.3(WFS1):c.402G>A (p.Ala134=)
|
rs199533137
|
0.00040
|
NM_022114.4(PRDM16):c.102G>A (p.Ala34=)
|
rs374918897
|
0.00040
|
NM_032578.4(MYPN):c.2190G>A (p.Thr730=)
|
rs71584492
|
0.00040
|
NM_194248.3(OTOF):c.1116C>T (p.Tyr372=)
|
rs147595264
|
0.00040
|
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=)
|
rs139525746
|
0.00040
|
NM_194248.3(OTOF):c.80-5C>T
|
rs531034566
|
0.00040
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
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_001145809.2(MYH14):c.5778C>T (p.Leu1926=)
|
rs201839634
|
0.00039
|
NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=)
|
rs56178910
|
0.00039
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00039
|
NM_001267550.2(TTN):c.32197+11G>A
|
rs369265969
|
0.00039
|
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)
|
rs367622770
|
0.00039
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_002473.6(MYH9):c.769+15C>T
|
rs201691359
|
0.00039
|
NM_004415.4(DSP):c.4500G>T (p.Leu1500=)
|
rs372881903
|
0.00039
|
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr)
|
rs182072601
|
0.00039
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
NM_020297.4(ABCC9):c.3030T>C (p.Ala1010=)
|
rs76102634
|
0.00039
|
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=)
|
rs150691499
|
0.00039
|
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr)
|
rs72969704
|
0.00038
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_000218.3(KCNQ1):c.1860C>T (p.His620=)
|
rs139893266
|
0.00038
|
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=)
|
rs397516505
|
0.00038
|
NM_001039876.3(SYNE4):c.128+10G>A
|
rs376639796
|
0.00038
|
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu)
|
rs141181035
|
0.00038
|
NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=)
|
rs144469697
|
0.00038
|
NM_001267550.2(TTN):c.180T>C (p.Asp60=)
|
rs144750850
|
0.00038
|
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)
|
rs199525540
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg)
|
rs143975327
|
0.00038
|
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=)
|
rs150096625
|
0.00038
|
NM_021167.5(GATAD1):c.249+13G>A
|
rs548757932
|
0.00038
|
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=)
|
rs202030777
|
0.00038
|
NM_080680.3(COL11A2):c.2064A>G (p.Gly688=)
|
rs753871660
|
0.00038
|
NM_144672.4(OTOA):c.2207+9C>T
|
rs374535775
|
0.00038
|
NM_178335.3(CCDC50):c.1429+5G>A
|
rs375535283
|
0.00038
|
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)
|
rs147091980
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_001384140.1(PCDH15):c.913C>G (p.Gln305Glu)
|
rs143058902
|
0.00037
|
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)
|
rs144415484
|
0.00037
|
NM_016239.4(MYO15A):c.6112C>T (p.Arg2038Cys)
|
rs146633221
|
0.00037
|
NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala)
|
rs138955440
|
0.00037
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_032229.3(SLITRK6):c.903G>A (p.Thr301=)
|
rs145725721
|
0.00037
|
NM_032578.4(MYPN):c.1662A>C (p.Ala554=)
|
rs71584488
|
0.00037
|
NM_033118.4(MYLK2):c.783G>A (p.Pro261=)
|
rs144621796
|
0.00037
|
NM_057176.3(BSND):c.*14C>T
|
rs187356092
|
0.00037
|
NM_153700.2(STRC):c.4593T>C (p.Leu1531=)
|
rs201633242
|
0.00037
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
NM_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
0.00036
|
NM_001103.4(ACTN2):c.1975-12C>T
|
rs371352710
|
0.00036
|
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)
|
rs199971778
|
0.00036
|
NM_001145809.2(MYH14):c.1115-4C>T
|
rs142696359
|
0.00036
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_001277115.2(DNAH11):c.11418C>T (p.Phe3806=)
|
rs187814474
|
0.00036
|
NM_001292063.2(OTOG):c.7866C>T (p.Pro2622=)
|
rs200566292
|
0.00036
|
NM_001318895.3(FHL2):c.207G>A (p.Ser69=)
|
rs138189036
|
0.00036
|
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys)
|
rs140148322
|
0.00036
|
NM_002230.4(JUP):c.1366G>A (p.Val456Ile)
|
rs78437817
|
0.00036
|
NM_002230.4(JUP):c.633C>T (p.Asn211=)
|
rs372145644
|
0.00036
|
NM_004415.4(DSP):c.8199G>C (p.Thr2733=)
|
rs145085696
|
0.00036
|
NM_004568.6(SERPINB6):c.996C>T (p.Ala332=)
|
rs147792064
|
0.00036
|
NM_005188.4(CBL):c.12C>T (p.Asn4=)
|
rs371567712
|
0.00036
|
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)
|
rs199749212
|
0.00036
|
NM_006393.3(NEBL):c.1962+7A>G
|
rs371630900
|
0.00036
|
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro)
|
rs143764931
|
0.00036
|
NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln)
|
rs200456053
|
0.00036
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
NM_017433.5(MYO3A):c.3000-11T>C
|
rs375346333
|
0.00036
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)
|
rs376636949
|
0.00036
|
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met)
|
rs200191563
|
0.00036
|
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)
|
rs200352299
|
0.00035
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
NM_000260.4(MYO7A):c.6558+9G>A
|
rs111033184
|
0.00035
|
NM_000260.4(MYO7A):c.849+7C>G
|
rs370740228
|
0.00035
|
NM_001018116.2(CAVIN4):c.519G>C (p.Ser173=)
|
rs145794010
|
0.00035
|
NM_001039141.3(TRIOBP):c.4329A>G (p.Leu1443=)
|
rs547759535
|
0.00035
|
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=)
|
rs141926228
|
0.00035
|
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)
|
rs78644690
|
0.00035
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
NM_001292063.2(OTOG):c.1623G>A (p.Leu541=)
|
rs755383141
|
0.00035
|
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile)
|
rs545321215
|
0.00035
|
NM_004086.3(COCH):c.786A>G (p.Val262=)
|
rs375612298
|
0.00035
|
NM_004999.4(MYO6):c.18C>T (p.Pro6=)
|
rs138024490
|
0.00035
|
NM_015404.4(WHRN):c.1887G>A (p.Pro629=)
|
rs143443833
|
0.00035
|
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)
|
rs148791216
|
0.00035
|
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=)
|
rs373457993
|
0.00035
|
NM_024915.4(GRHL2):c.543G>A (p.Glu181=)
|
rs200674096
|
0.00035
|
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)
|
rs372065024
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=)
|
rs376826051
|
0.00034
|
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)
|
rs192301957
|
0.00034
|
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=)
|
rs142362933
|
0.00034
|
NM_001031679.3(MSRB3):c.483T>C (p.Pro161=)
|
rs141532859
|
0.00034
|
NM_001034853.2(RPGR):c.141T>G (p.Ser47=)
|
rs62638631
|
0.00034
|
NM_001035.3(RYR2):c.463+6dup
|
rs397516534
|
0.00034
|
NM_001039141.3(TRIOBP):c.4497T>G (p.Thr1499=)
|
rs139919698
|
0.00034
|
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys)
|
rs201117318
|
0.00034
|
NM_001145809.2(MYH14):c.5960+8C>T
|
rs373176553
|
0.00034
|
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00034
|
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=)
|
rs114687298
|
0.00034
|
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)
|
rs202132383
|
0.00034
|
NM_002524.5(NRAS):c.360G>A (p.Leu120=)
|
rs143020946
|
0.00034
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=)
|
rs201149420
|
0.00034
|
NM_005422.4(TECTA):c.199-4G>A
|
rs373736415
|
0.00034
|
NM_005422.4(TECTA):c.5273-8del
|
rs727504781
|
0.00034
|
NM_007078.3(LDB3):c.732C>T (p.Pro244=)
|
rs144509718
|
0.00034
|
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)
|
rs201540919
|
0.00034
|
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=)
|
rs146618055
|
0.00034
|
NM_032119.4(ADGRV1):c.11562C>T (p.Ala3854=)
|
rs182115637
|
0.00034
|
NM_057176.3(BSND):c.309G>C (p.Glu103Asp)
|
rs200246335
|
0.00034
|
NM_138691.3(TMC1):c.1019T>C (p.Met340Thr)
|
rs111033464
|
0.00034
|
NM_147196.3(TMIE):c.102G>A (p.Thr34=)
|
rs201107982
|
0.00034
|
NM_198253.3(TERT):c.219+7C>T
|
rs573817924
|
0.00034
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
|
rs141355480
|
0.00033
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
NM_005228.5(EGFR):c.2355C>T (p.Thr785=)
|
rs148188503
|
0.00033
|
NM_005379.4(MYO1A):c.1770G>A (p.Lys590=)
|
rs200927840
|
0.00033
|
NM_006073.4(TRDN):c.1472-13C>T
|
rs367962513
|
0.00033
|
NM_006941.4(SOX10):c.753G>A (p.Ser251=)
|
rs376907937
|
0.00033
|
NM_014000.3(VCL):c.492T>G (p.Leu164=)
|
rs143702799
|
0.00033
|
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)
|
rs146693681
|
0.00033
|
NM_020433.5(JPH2):c.1107T>C (p.Ser369=)
|
rs148311735
|
0.00033
|
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser)
|
rs200496467
|
0.00033
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
NM_000138.5(FBN1):c.5788+10C>A
|
rs371560107
|
0.00032
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=)
|
rs193922378
|
0.00032
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
NM_000432.4(MYL2):c.342G>A (p.Leu114=)
|
rs199572927
|
0.00032
|
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)
|
rs147245615
|
0.00032
|
NM_001267550.2(TTN):c.11583C>T (p.Thr3861=)
|
rs11899887
|
0.00032
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.39128-14T>C
|
rs200916144
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=)
|
rs138313387
|
0.00032
|
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=)
|
rs545896255
|
0.00032
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_002473.6(MYH9):c.1491C>T (p.Ile497=)
|
rs146487404
|
0.00032
|
NM_002880.4(RAF1):c.-59C>A
|
rs201603517
|
0.00032
|
NM_004415.4(DSP):c.531C>G (p.Gly177=)
|
rs138865799
|
0.00032
|
NM_005422.4(TECTA):c.552C>T (p.Tyr184=)
|
rs148364865
|
0.00032
|
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)
|
rs200697103
|
0.00032
|
NM_016239.4(MYO15A):c.9613-13C>T
|
rs368335921
|
0.00032
|
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=)
|
rs202066007
|
0.00032
|
NM_133261.3(GIPC3):c.319C>A (p.Arg107=)
|
rs138707041
|
0.00032
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu)
|
rs186644871
|
0.00031
|
NM_000335.5(SCN5A):c.456C>T (p.Asp152=)
|
rs190803993
|
0.00031
|
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met)
|
rs201829896
|
0.00031
|
NM_001039141.3(TRIOBP):c.6324+191G>A
|
rs181741158
|
0.00031
|
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser)
|
rs191901426
|
0.00031
|
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=)
|
rs373050209
|
0.00031
|
NM_001105206.3(LAMA4):c.4626T>C (p.Ile1542=)
|
rs150791451
|
0.00031
|
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)
|
rs200226466
|
0.00031
|
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)
|
rs117287351
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
NM_001292063.2(OTOG):c.1806C>T (p.Ser602=)
|
rs536715287
|
0.00031
|
NM_001369.3(DNAH5):c.11570+8T>C
|
rs369789559
|
0.00031
|
NM_001614.5(ACTG1):c.364-8C>T
|
rs201748657
|
0.00031
|
NM_002458.3(MUC5B):c.3483T>C (p.His1161=)
|
rs376955587
|
0.00031
|
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)
|
rs150450178
|
0.00031
|
NM_002473.6(MYH9):c.2500-14A>G
|
rs199505086
|
0.00031
|
NM_002700.3(POU4F3):c.421C>A (p.Pro141Thr)
|
rs139312280
|
0.00031
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
NM_004985.5(KRAS):c.451-5565G>A
|
rs200970347
|
0.00031
|
NM_006005.3(WFS1):c.594G>A (p.Ala198=)
|
rs563931269
|
0.00031
|
NM_014000.3(VCL):c.1626C>T (p.Leu542=)
|
rs150402791
|
0.00031
|
NM_014908.4(DOLK):c.1394G>A (p.Arg465His)
|
rs148930043
|
0.00031
|
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=)
|
rs74067815
|
0.00031
|
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=)
|
rs138280089
|
0.00031
|
NM_024334.3(TMEM43):c.442+7G>A
|
rs373590238
|
0.00031
|
NM_033118.4(MYLK2):c.1176C>T (p.Asp392=)
|
rs147099889
|
0.00031
|
NM_133261.3(GIPC3):c.20G>A (p.Arg7Gln)
|
rs998073430
|
0.00031
|
NM_133261.3(GIPC3):c.440G>A (p.Arg147Gln)
|
rs141293401
|
0.00031
|
NM_144498.4(OSBPL2):c.429C>G (p.Ser143=)
|
rs142341897
|
0.00031
|
NM_194248.3(OTOF):c.2859C>T (p.Val953=)
|
rs77414333
|
0.00031
|
NM_000256.3(MYBPC3):c.772+10C>T
|
rs375525278
|
0.00030
|
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=)
|
rs144420313
|
0.00030
|
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=)
|
rs146144731
|
0.00030
|
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)
|
rs55821172
|
0.00030
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00030
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
0.00030
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00030
|
NM_001267550.2(TTN):c.94863C>T (p.His31621=)
|
rs373871146
|
0.00030
|
NM_001378454.1(ALMS1):c.1161T>C (p.His387=)
|
rs191091347
|
0.00030
|
NM_001378609.3(OTOGL):c.2628C>T (p.Asn876=)
|
rs371565107
|
0.00030
|
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=)
|
rs367826075
|
0.00030
|
NM_001386795.1(DTNA):c.51G>A (p.Gln17=)
|
rs368000651
|
0.00030
|
NM_002458.3(MUC5B):c.3926C>T (p.Thr1309Met)
|
rs200226020
|
0.00030
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
NM_002471.4(MYH6):c.4611G>A (p.Val1537=)
|
rs142983918
|
0.00030
|
NM_003280.3(TNNC1):c.108C>A (p.Ile36=)
|
rs202000367
|
0.00030
|
NM_015340.4(LARS2):c.1622+8G>A
|
rs202009605
|
0.00030
|
NM_022124.6(CDH23):c.9087G>A (p.Gln3029=)
|
rs376098894
|
0.00030
|
NM_030662.4(MAP2K2):c.303+12G>A
|
rs376432107
|
0.00030
|
NM_206933.4(USH2A):c.9495T>C (p.Asp3165=)
|
rs41305094
|
0.00030
|
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=)
|
rs372838090
|
0.00029
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000257.4(MYH7):c.5725C>A (p.Arg1909=)
|
rs146796870
|
0.00029
|
NM_000260.4(MYO7A):c.3925-8G>A
|
rs367645097
|
0.00029
|
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
|
rs397516327
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_000414.4(HSD17B4):c.1261+14A>G
|
rs371682983
|
0.00029
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_001018005.2(TPM1):c.375-5T>C
|
rs377061868
|
0.00029
|
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)
|
rs145087575
|
0.00029
|
NM_001145809.2(MYH14):c.1026G>A (p.Pro342=)
|
rs368124508
|
0.00029
|
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=)
|
rs192668758
|
0.00029
|
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His)
|
rs138946894
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
NM_001267550.2(TTN):c.4645+8G>T
|
rs144456585
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_001286445.3(RIPOR2):c.1329G>A (p.Ala443=)
|
rs200686463
|
0.00029
|
NM_001614.5(ACTG1):c.126C>T (p.Gly42=)
|
rs11549197
|
0.00029
|
NM_002230.4(JUP):c.459C>T (p.Asp153=)
|
rs376289528
|
0.00029
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00029
|
NM_002471.4(MYH6):c.981C>T (p.Ser327=)
|
rs148407931
|
0.00029
|
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val)
|
rs144080051
|
0.00029
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
NM_003036.4(SKI):c.312A>T (p.Val104=)
|
rs368195821
|
0.00029
|
NM_004086.3(COCH):c.1128C>T (p.Ser376=)
|
rs146166304
|
0.00029
|
NM_007078.3(LDB3):c.1035C>T (p.Ile345=)
|
rs121908336
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_014000.3(VCL):c.366G>A (p.Leu122=)
|
rs199562976
|
0.00029
|
NM_014476.6(PDLIM3):c.195G>A (p.Ala65=)
|
rs148570356
|
0.00029
|
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp)
|
rs138121304
|
0.00029
|
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His)
|
rs201794696
|
0.00029
|
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)
|
rs202039728
|
0.00029
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=)
|
rs145561881
|
0.00029
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=)
|
rs150833333
|
0.00029
|
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)
|
rs373352597
|
0.00029
|
NM_033118.4(MYLK2):c.786A>G (p.Pro262=)
|
rs727504437
|
0.00029
|
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser)
|
rs72647902
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_181507.2(HPS5):c.85C>A (p.Arg29=)
|
rs138638048
|
0.00029
|
NM_206933.4(USH2A):c.2167+11C>T
|
rs139647897
|
0.00029
|
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=)
|
rs370945942
|
0.00028
|
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=)
|
rs373656667
|
0.00028
|
NM_000601.6(HGF):c.885C>T (p.Asp295=)
|
rs141751290
|
0.00028
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=)
|
rs368119524
|
0.00028
|
NM_001039876.3(SYNE4):c.638C>T (p.Thr213Met)
|
rs199916743
|
0.00028
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
NM_001199799.2(ILDR1):c.1159T>C (p.Ser387Pro)
|
rs150250182
|
0.00028
|
NM_001232.4(CASQ2):c.861C>A (p.Ile287=)
|
rs143718767
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)
|
rs373223049
|
0.00028
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
NM_001267550.2(TTN):c.75762G>T (p.Val25254=)
|
rs374003257
|
0.00028
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=)
|
rs114557260
|
0.00028
|
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln)
|
rs142009291
|
0.00028
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)
|
rs376881824
|
0.00028
|
NM_032119.4(ADGRV1):c.17871G>A (p.Ala5957=)
|
rs373800116
|
0.00028
|
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=)
|
rs146884759
|
0.00028
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)
|
rs142511345
|
0.00027
|
NM_000503.6(EYA1):c.1734G>A (p.Ser578=)
|
rs770876882
|
0.00027
|
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=)
|
rs143587921
|
0.00027
|
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)
|
rs375538420
|
0.00027
|
NM_001292063.2(OTOG):c.8022G>A (p.Pro2674=)
|
rs753850661
|
0.00027
|
NM_001354604.2(MITF):c.1182A>G (p.Glu394=)
|
rs137904015
|
0.00027
|
NM_001378609.3(OTOGL):c.5736T>C (p.Val1912=)
|
rs368807465
|
0.00027
|
NM_002834.3(PTPN11):c.*13A>G
|
rs201957261
|
0.00027
|
NM_016239.4(MYO15A):c.9998G>A (p.Arg3333Gln)
|
rs200605472
|
0.00027
|
NM_020975.6(RET):c.2673G>A (p.Ser891=)
|
rs201620214
|
0.00027
|
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile)
|
rs201610096
|
0.00027
|
NM_182548.4(LHFPL5):c.321C>T (p.Leu107=)
|
rs200392480
|
0.00027
|
NM_194248.3(OTOF):c.3679C>A (p.Arg1227=)
|
rs111033478
|
0.00027
|
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=)
|
rs149566576
|
0.00027
|
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
NM_000138.5(FBN1):c.2187A>C (p.Leu729=)
|
rs61730055
|
0.00026
|
NM_000256.3(MYBPC3):c.1624+14_1624+15insA
|
rs369096037
|
0.00026
|
NM_001005242.3(PKP2):c.696C>T (p.Asp232=)
|
rs375677250
|
0.00026
|
NM_001039141.3(TRIOBP):c.6792G>A (p.Ser2264=)
|
rs371118329
|
0.00026
|
NM_001103.4(ACTN2):c.1406+8C>T
|
rs397516567
|
0.00026
|
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp)
|
rs186968009
|
0.00026
|
NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln)
|
rs372923744
|
0.00026
|
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=)
|
rs377697825
|
0.00026
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)
|
rs368781863
|
0.00026
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_001267550.2(TTN):c.57263-4C>T
|
rs373552048
|
0.00026
|
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)
|
rs371884545
|
0.00026
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
0.00026
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)
|
rs374081262
|
0.00026
|
NM_001292063.2(OTOG):c.7380T>A (p.Asp2460Glu)
|
rs532385451
|
0.00026
|
NM_002230.4(JUP):c.486G>A (p.Ala162=)
|
rs113317262
|
0.00026
|
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)
|
rs201341211
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
NM_005422.4(TECTA):c.5766A>G (p.Thr1922=)
|
rs149602974
|
0.00026
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
0.00026
|
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln)
|
rs199783506
|
0.00026
|
NM_016239.4(MYO15A):c.7926G>A (p.Pro2642=)
|
rs372373045
|
0.00026
|
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro)
|
rs149521185
|
0.00026
|
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)
|
rs199614124
|
0.00026
|
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=)
|
rs140255091
|
0.00026
|
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)
|
rs200874968
|
0.00026
|
NM_032119.4(ADGRV1):c.3741G>A (p.Glu1247=)
|
rs371571867
|
0.00026
|
NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys)
|
rs201210744
|
0.00026
|
NM_144672.4(OTOA):c.739+11A>G
|
rs186092865
|
0.00026
|
NM_152594.3(SPRED1):c.377-10A>G
|
rs376134678
|
0.00026
|
NM_153700.2(STRC):c.4546-13G>C
|
rs374896210
|
0.00026
|
NM_198999.3(SLC26A5):c.498T>C (p.Asn166=)
|
rs151200437
|
0.00026
|
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)
|
rs138326802
|
0.00026
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
NM_001114086.2(CLIC5):c.360C>T (p.Cys120=)
|
rs370825642
|
0.00025
|
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=)
|
rs150463212
|
0.00025
|
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=)
|
rs368984050
|
0.00025
|
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=)
|
rs528832388
|
0.00025
|
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)
|
rs148434577
|
0.00025
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00025
|
NM_002230.4(JUP):c.1910G>A (p.Arg637His)
|
rs142095597
|
0.00025
|
NM_002458.3(MUC5B):c.3584-10C>T
|
rs140245340
|
0.00025
|
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=)
|
rs377720622
|
0.00025
|
NM_002880.4(RAF1):c.909A>C (p.Thr303=)
|
rs5746219
|
0.00025
|
NM_004281.4(BAG3):c.645C>T (p.Asn215=)
|
rs138078305
|
0.00025
|
NM_004700.4(KCNQ4):c.438G>A (p.Glu146=)
|
rs144434662
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_006005.3(WFS1):c.1470C>T (p.Thr490=)
|
rs146027767
|
0.00025
|
NM_007078.3(LDB3):c.1971C>T (p.Cys657=)
|
rs140552419
|
0.00025
|
NM_013296.5(GPSM2):c.1631C>T (p.Thr544Met)
|
rs191870755
|
0.00025
|
NM_016929.5(CLIC5):c.491C>G (p.Thr164Ser)
|
rs201781198
|
0.00025
|
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
|
rs111033493
|
0.00025
|
NM_022124.6(CDH23):c.9438G>A (p.Ala3146=)
|
rs200572025
|
0.00025
|
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)
|
rs146245480
|
0.00025
|
NM_144991.3(TSPEAR):c.542+15G>A
|
rs587599565
|
0.00025
|
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)
|
rs199473648
|
0.00025
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000414.4(HSD17B4):c.622+15T>A
|
rs201280286
|
0.00024
|
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys)
|
rs149470089
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)
|
rs79406408
|
0.00024
|
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)
|
rs75948012
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys)
|
rs117729990
|
0.00024
|
NM_001277115.2(DNAH11):c.4945-12T>C
|
rs141572016
|
0.00024
|
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu)
|
rs200797401
|
0.00024
|
NM_001384474.1(LOXHD1):c.2580G>A (p.Ala860=)
|
rs118140267
|
0.00024
|
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=)
|
rs376334860
|
0.00024
|
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=)
|
rs182162229
|
0.00024
|
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)
|
rs148656020
|
0.00024
|
NM_004086.3(COCH):c.141T>C (p.Asp47=)
|
rs199674735
|
0.00024
|
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu)
|
rs199892018
|
0.00024
|
NM_005422.4(TECTA):c.2700G>A (p.Ser900=)
|
rs375406423
|
0.00024
|
NM_007078.3(LDB3):c.1503C>T (p.Ala501=)
|
rs147692024
|
0.00024
|
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=)
|
rs145688699
|
0.00024
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=)
|
rs144850779
|
0.00024
|
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=)
|
rs41306255
|
0.00024
|
NM_153700.2(STRC):c.4563G>A (p.Arg1521=)
|
rs140729822
|
0.00024
|
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=)
|
rs397518016
|
0.00024
|
NM_000260.4(MYO7A):c.514C>T (p.Leu172=)
|
rs368246776
|
0.00023
|
NM_000503.6(EYA1):c.164C>T (p.Thr55Met)
|
rs201434219
|
0.00023
|
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=)
|
rs143592561
|
0.00023
|
NM_001145809.2(MYH14):c.4943G>A (p.Arg1648Lys)
|
rs727503228
|
0.00023
|
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)
|
rs372635204
|
0.00023
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)
|
rs377388499
|
0.00023
|
NM_001614.5(ACTG1):c.546C>T (p.Gly182=)
|
rs61997063
|
0.00023
|
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr)
|
rs527738649
|
0.00023
|
NM_002230.4(JUP):c.546G>A (p.Ser182=)
|
rs202038498
|
0.00023
|
NM_002473.6(MYH9):c.3100+7G>A
|
rs553320578
|
0.00023
|
NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=)
|
rs568177070
|
0.00023
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln)
|
rs138437422
|
0.00023
|
NM_016203.4(PRKAG2):c.1585-4G>A
|
rs373649956
|
0.00023
|
NM_016239.4(MYO15A):c.3591G>A (p.Pro1197=)
|
rs200222411
|
0.00023
|
NM_016239.4(MYO15A):c.8652G>A (p.Ala2884=)
|
rs373922407
|
0.00023
|
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=)
|
rs140182559
|
0.00023
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)
|
rs181275139
|
0.00023
|
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=)
|
rs369603764
|
0.00023
|
NM_144573.4(NEXN):c.1029G>A (p.Ala343=)
|
rs374260457
|
0.00023
|
NM_174878.3(CLRN1):c.660C>T (p.Asp220=)
|
rs148752352
|
0.00023
|
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe)
|
rs375083165
|
0.00023
|
NM_000432.4(MYL2):c.353+12C>A
|
rs186323458
|
0.00022
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
NM_001010892.3(RSPH4A):c.1245G>A (p.Gln415=)
|
rs139726443
|
0.00022
|
NM_001032283.3(TMPO):c.252G>T (p.Ala84=)
|
rs727504659
|
0.00022
|
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=)
|
rs149106800
|
0.00022
|
NM_001145809.2(MYH14):c.1155C>T (p.Asn385=)
|
rs558991834
|
0.00022
|
NM_001256317.3(TMPRSS3):c.279C>T (p.Asp93=)
|
rs145824109
|
0.00022
|
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)
|
rs183336802
|
0.00022
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=)
|
rs192857526
|
0.00022
|
NM_001267550.2(TTN):c.54811+15G>A
|
rs201450276
|
0.00022
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
NM_001384474.1(LOXHD1):c.2223C>T (p.Leu741=)
|
rs199595156
|
0.00022
|
NM_001395849.1(NPIPB5):c.1488C>T (p.Ala496=)
|
rs755632125
|
0.00022
|
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=)
|
rs372158844
|
0.00022
|
NM_004086.3(COCH):c.22G>A (p.Ala8Thr)
|
rs200935305
|
0.00022
|
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=)
|
rs192662552
|
0.00022
|
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=)
|
rs145023222
|
0.00022
|
NM_005422.4(TECTA):c.2886C>T (p.Ser962=)
|
rs138065050
|
0.00022
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
NM_006393.3(NEBL):c.1449+14G>A
|
rs373699154
|
0.00022
|
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu)
|
rs143155251
|
0.00022
|
NM_015512.5(DNAH1):c.5332-14G>A
|
rs375828810
|
0.00022
|
NM_022124.6(CDH23):c.945+12G>A
|
rs368487424
|
0.00022
|
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=)
|
rs201475256
|
0.00022
|
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)
|
rs375921325
|
0.00022
|
NM_032119.4(ADGRV1):c.8204A>G (p.Asn2735Ser)
|
rs200604083
|
0.00022
|
NM_032229.3(SLITRK6):c.1638C>T (p.Cys546=)
|
rs200014932
|
0.00022
|
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln)
|
rs142157418
|
0.00022
|
NM_144672.4(OTOA):c.2019C>T (p.Asp673=)
|
rs147901051
|
0.00022
|
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)
|
rs200701839
|
0.00022
|
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=)
|
rs189574905
|
0.00021
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=)
|
rs367738288
|
0.00021
|
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=)
|
rs372328054
|
0.00021
|
NM_001010892.3(RSPH4A):c.1734C>T (p.Asp578=)
|
rs188903141
|
0.00021
|
NM_001035.3(RYR2):c.1005+13A>G
|
rs552027921
|
0.00021
|
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)
|
rs369917806
|
0.00021
|
NM_001039141.3(TRIOBP):c.6007G>A (p.Gly2003Ser)
|
rs397516554
|
0.00021
|
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val)
|
rs199938988
|
0.00021
|
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)
|
rs150043310
|
0.00021
|
NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu)
|
rs373698416
|
0.00021
|
NM_001232.4(CASQ2):c.607-15T>C
|
rs138298959
|
0.00021
|
NM_001267550.2(TTN):c.101055T>C (p.Asp33685=)
|
rs372788551
|
0.00021
|
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=)
|
rs201129413
|
0.00021
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00021
|
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=)
|
rs72647883
|
0.00021
|
NM_001277115.2(DNAH11):c.4254+13G>A
|
rs371484690
|
0.00021
|
NM_001354604.2(MITF):c.114C>T (p.Ala38=)
|
rs374097282
|
0.00021
|
NM_001354604.2(MITF):c.667-3C>T
|
rs376704147
|
0.00021
|
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=)
|
rs111033499
|
0.00021
|
NM_001384140.1(PCDH15):c.4671+1642T>C
|
rs182175548
|
0.00021
|
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=)
|
rs189550119
|
0.00021
|
NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=)
|
rs189561302
|
0.00021
|
NM_001614.5(ACTG1):c.345C>T (p.Asn115=)
|
rs149057480
|
0.00021
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
NM_002471.4(MYH6):c.1839C>G (p.Ser613=)
|
rs138984258
|
0.00021
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
NM_004281.4(BAG3):c.1674G>A (p.Ala558=)
|
rs142981190
|
0.00021
|
NM_004281.4(BAG3):c.471G>A (p.Ala157=)
|
rs148985314
|
0.00021
|
NM_004568.6(SERPINB6):c.430+3G>A
|
rs201080069
|
0.00021
|
NM_004985.5(KRAS):c.264A>G (p.Lys88=)
|
rs370920665
|
0.00021
|
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser)
|
rs147974629
|
0.00021
|
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
|
rs145144527
|
0.00021
|
NM_006393.3(NEBL):c.82-4A>G
|
rs368268112
|
0.00021
|
NM_014000.3(VCL):c.1788A>C (p.Ser596=)
|
rs199582103
|
0.00021
|
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=)
|
rs201026034
|
0.00021
|
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln)
|
rs761180573
|
0.00021
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_021167.5(GATAD1):c.276T>G (p.Ser92=)
|
rs143082866
|
0.00021
|
NM_021167.5(GATAD1):c.48G>A (p.Ser16=)
|
rs376686657
|
0.00021
|
NM_022114.4(PRDM16):c.3109+9C>T
|
rs369808146
|
0.00021
|
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
|
rs199894395
|
0.00021
|
NM_022124.6(CDH23):c.551G>A (p.Arg184His)
|
rs201132251
|
0.00021
|
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)
|
rs201457010
|
0.00021
|
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=)
|
rs141675061
|
0.00021
|
NM_024422.6(DSC2):c.348A>G (p.Gln116=)
|
rs137941742
|
0.00021
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248
|
0.00021
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00021
|
NM_153676.4(USH1C):c.1386G>A (p.Gln462=)
|
rs141564204
|
0.00021
|
NM_206933.4(USH2A):c.1550+10T>C
|
rs200728788
|
0.00021
|
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)
|
rs201710470
|
0.00021
|
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)
|
rs147930567
|
0.00021
|
NM_206933.4(USH2A):c.6325+13G>A
|
rs368490585
|
0.00021
|
NM_001039141.3(TRIOBP):c.4935A>G (p.Ala1645=)
|
rs371078565
|
0.00020
|
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)
|
rs142636150
|
0.00020
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)
|
rs200430493
|
0.00020
|
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=)
|
rs369327691
|
0.00020
|
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=)
|
rs372740215
|
0.00020
|
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser)
|
rs188528174
|
0.00020
|
NM_001386795.1(DTNA):c.126G>A (p.Arg42=)
|
rs376001633
|
0.00020
|
NM_002471.4(MYH6):c.202-12C>T
|
rs566157802
|
0.00020
|
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=)
|
rs142427583
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_006005.3(WFS1):c.1632C>T (p.Ser544=)
|
rs140115060
|
0.00020
|
NM_006005.3(WFS1):c.762C>T (p.Tyr254=)
|
rs140266808
|
0.00020
|
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln)
|
rs141903506
|
0.00020
|
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=)
|
rs376952695
|
0.00020
|
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)
|
rs145903555
|
0.00020
|
NM_033118.4(MYLK2):c.972+14G>A
|
rs193922713
|
0.00020
|
NM_033337.3(CAV3):c.115-13G>C
|
rs368367319
|
0.00020
|
NM_144672.4(OTOA):c.660C>T (p.Tyr220=)
|
rs139292090
|
0.00020
|
NM_152732.5(RSPH9):c.421G>A (p.Val141Met)
|
rs2295947
|
0.00020
|
NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys)
|
rs199955493
|
0.00020
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
NM_000256.3(MYBPC3):c.207G>C (p.Arg69=)
|
rs397515946
|
0.00019
|
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=)
|
rs376344765
|
0.00019
|
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=)
|
rs367927327
|
0.00019
|
NM_000257.4(MYH7):c.796+7G>A
|
rs369286647
|
0.00019
|
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=)
|
rs372623270
|
0.00019
|
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=)
|
rs727505004
|
0.00019
|
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys)
|
rs781922871
|
0.00019
|
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=)
|
rs2303156
|
0.00019
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00019
|
NM_000501.4(ELN):c.427+9G>A
|
rs370752724
|
0.00019
|
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr)
|
rs750153629
|
0.00019
|
NM_001127217.3(SMAD9):c.48C>T (p.Pro16=)
|
rs151312678
|
0.00019
|
NM_001267550.2(TTN):c.22653T>C (p.Asp7551=)
|
rs371736246
|
0.00019
|
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)
|
rs371447978
|
0.00019
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser)
|
rs186404793
|
0.00019
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=)
|
rs148210834
|
0.00019
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_001286445.3(RIPOR2):c.2430G>A (p.Ala810=)
|
rs541774937
|
0.00019
|
NM_001292063.2(OTOG):c.4866C>T (p.Val1622=)
|
rs780581249
|
0.00019
|
NM_001292063.2(OTOG):c.7461C>T (p.Cys2487=)
|
rs530992812
|
0.00019
|
NM_001378609.3(OTOGL):c.3393T>C (p.Tyr1131=)
|
rs574974638
|
0.00019
|
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=)
|
rs139751304
|
0.00019
|
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=)
|
rs199914263
|
0.00019
|
NM_002471.4(MYH6):c.1875C>T (p.Tyr625=)
|
rs146591697
|
0.00019
|
NM_003280.3(TNNC1):c.324T>C (p.Ala108=)
|
rs145066209
|
0.00019
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)
|
rs764692193
|
0.00019
|
NM_004415.4(DSP):c.6351T>C (p.Asp2117=)
|
rs148743859
|
0.00019
|
NM_004415.4(DSP):c.8415C>T (p.Ala2805=)
|
rs377148997
|
0.00019
|
NM_004568.6(SERPINB6):c.1050C>T (p.Cys350=)
|
rs201048748
|
0.00019
|
NM_005422.4(TECTA):c.6250+12C>T
|
rs199696601
|
0.00019
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00019
|
NM_006393.3(NEBL):c.1728T>C (p.Asp576=)
|
rs1528182
|
0.00019
|
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)
|
rs397517263
|
0.00019
|
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His)
|
rs148993025
|
0.00019
|
NM_017668.3(NDE1):c.948-5740C>T
|
rs373378619
|
0.00019
|
NM_024915.4(GRHL2):c.216+8C>T
|
rs376505205
|
0.00019
|
NM_032119.4(ADGRV1):c.2734+8A>G
|
rs371906040
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_033337.3(CAV3):c.306G>A (p.Ala102=)
|
rs149375325
|
0.00019
|
NM_133379.5(TTN):c.13614A>C (p.Gln4538His)
|
rs139344272
|
0.00019
|
NM_144672.4(OTOA):c.1521C>T (p.Ile507=)
|
rs140579035
|
0.00019
|
NM_144991.3(TSPEAR):c.1524C>T (p.Tyr508=)
|
rs140557785
|
0.00019
|
NM_153676.4(USH1C):c.1449G>A (p.Ser483=)
|
rs142669563
|
0.00019
|
NM_153676.4(USH1C):c.2616C>T (p.Ala872=)
|
rs141591891
|
0.00019
|
NM_194248.3(OTOF):c.1506G>A (p.Ser502=)
|
rs199713499
|
0.00019
|
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu)
|
rs191568463
|
0.00019
|
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile)
|
rs199613764
|
0.00019
|
NM_194248.3(OTOF):c.5196C>T (p.Tyr1732=)
|
rs138681366
|
0.00019
|
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=)
|
rs111033353
|
0.00019
|
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His)
|
rs189729452
|
0.00019
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
NM_000169.3(GLA):c.129C>T (p.Gly43=)
|
rs146177035
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)
|
rs727505215
|
0.00018
|
NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val)
|
rs150773481
|
0.00018
|
NM_001105206.3(LAMA4):c.4691G>T (p.Ser1564Ile)
|
rs369887291
|
0.00018
|
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=)
|
rs368735897
|
0.00018
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00018
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)
|
rs371973579
|
0.00018
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
NM_001277115.2(DNAH11):c.8770G>A (p.Val2924Met)
|
rs72657369
|
0.00018
|
NM_001318895.3(FHL2):c.174C>T (p.Asp58=)
|
rs141208906
|
0.00018
|
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)
|
rs199645176
|
0.00018
|
NM_002230.4(JUP):c.1377G>T (p.Leu459=)
|
rs147370522
|
0.00018
|
NM_002230.4(JUP):c.2031G>A (p.Pro677=)
|
rs188888662
|
0.00018
|
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=)
|
rs142539180
|
0.00018
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00018
|
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val)
|
rs142480526
|
0.00018
|
NM_006005.3(WFS1):c.1923G>A (p.Thr641=)
|
rs139040290
|
0.00018
|
NM_014391.3(ANKRD1):c.441T>C (p.Asp147=)
|
rs145827106
|
0.00018
|
NM_016239.4(MYO15A):c.10077G>A (p.Pro3359=)
|
rs367627564
|
0.00018
|
NM_016239.4(MYO15A):c.3012A>G (p.Ser1004=)
|
rs376387472
|
0.00018
|
NM_016239.4(MYO15A):c.4407T>C (p.Ser1469=)
|
rs202180744
|
0.00018
|
NM_016239.4(MYO15A):c.5360+13G>T
|
rs374693221
|
0.00018
|
NM_017433.5(MYO3A):c.1668A>G (p.Leu556=)
|
rs112809849
|
0.00018
|
NM_022124.6(CDH23):c.3431-6A>T
|
rs377614198
|
0.00018
|
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)
|
rs146082509
|
0.00018
|
NM_032119.4(ADGRV1):c.17856+10C>T
|
rs371949377
|
0.00018
|
NM_153676.4(USH1C):c.186T>C (p.Ile62=)
|
rs200239508
|
0.00018
|
NM_194248.3(OTOF):c.5091G>A (p.Pro1697=)
|
rs373568741
|
0.00018
|
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=)
|
rs369787754
|
0.00017
|
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)
|
rs375968860
|
0.00017
|
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln)
|
rs369678002
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_000441.2(SLC26A4):c.1947C>T (p.Asn649=)
|
rs761139326
|
0.00017
|
NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly)
|
rs201008196
|
0.00017
|
NM_001128840.3(CACNA1D):c.2406+5G>A
|
rs193270389
|
0.00017
|
NM_001199799.2(ILDR1):c.921A>G (p.Lys307=)
|
rs370886914
|
0.00017
|
NM_001267550.2(TTN):c.11109C>T (p.Ser3703=)
|
rs879160199
|
0.00017
|
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)
|
rs146690035
|
0.00017
|
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=)
|
rs182355009
|
0.00017
|
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)
|
rs55734111
|
0.00017
|
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)
|
rs727504191
|
0.00017
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001292063.2(OTOG):c.7693+13C>T
|
rs773422239
|
0.00017
|
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=)
|
rs370844317
|
0.00017
|
NM_001614.5(ACTG1):c.825C>T (p.His275=)
|
rs145303691
|
0.00017
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
NM_004100.5(EYA4):c.1617-11C>T
|
rs118166702
|
0.00017
|
NM_004415.4(DSP):c.3153C>T (p.Asn1051=)
|
rs563387839
|
0.00017
|
NM_004999.4(MYO6):c.188-3T>C
|
rs373199401
|
0.00017
|
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=)
|
rs587781024
|
0.00017
|
NM_007078.3(LDB3):c.1572G>A (p.Ala524=)
|
rs149423035
|
0.00017
|
NM_017433.5(MYO3A):c.4730+11A>C
|
rs375717548
|
0.00017
|
NM_020297.4(ABCC9):c.3096+13C>T
|
rs370712530
|
0.00017
|
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)
|
rs376612687
|
0.00017
|
NM_022114.4(PRDM16):c.252C>T (p.Phe84=)
|
rs370290776
|
0.00017
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
0.00017
|
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)
|
rs201089046
|
0.00017
|
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=)
|
rs147993163
|
0.00017
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
NM_133379.5(TTN):c.15981G>A (p.Gln5327=)
|
rs186841908
|
0.00017
|
NM_138691.3(TMC1):c.2070G>A (p.Ala690=)
|
rs145757452
|
0.00017
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
NM_173477.5(USH1G):c.756C>T (p.Asp252=)
|
rs146752863
|
0.00017
|
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)
|
rs376041792
|
0.00016
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00016
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
NM_000335.5(SCN5A):c.5478C>T (p.Ile1826=)
|
rs138892850
|
0.00016
|
NM_000336.3(SCNN1B):c.1305G>A (p.Ala435=)
|
rs727503413
|
0.00016
|
NM_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
NM_000503.6(EYA1):c.1185C>T (p.Asn395=)
|
rs372488542
|
0.00016
|
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr)
|
rs368740836
|
0.00016
|
NM_001032283.3(TMPO):c.534T>C (p.Asn178=)
|
rs200016687
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
NM_001035.3(RYR2):c.7075C>A (p.Arg2359=)
|
rs200921429
|
0.00016
|
NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=)
|
rs192500421
|
0.00016
|
NM_001039141.3(TRIOBP):c.6324+162G>A
|
rs201529268
|
0.00016
|
NM_001103.4(ACTN2):c.186C>T (p.Ile62=)
|
rs34403480
|
0.00016
|
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn)
|
rs148716975
|
0.00016
|
NM_001145809.2(MYH14):c.3514C>A (p.Arg1172=)
|
rs373919106
|
0.00016
|
NM_001232.4(CASQ2):c.177G>A (p.Pro59=)
|
rs371260149
|
0.00016
|
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=)
|
rs369993514
|
0.00016
|
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)
|
rs374156904
|
0.00016
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)
|
rs550471556
|
0.00016
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His)
|
rs142129359
|
0.00016
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=)
|
rs375403439
|
0.00016
|
NM_001292063.2(OTOG):c.2294-6C>T
|
rs201721923
|
0.00016
|
NM_001292063.2(OTOG):c.2562-14G>A
|
rs550895099
|
0.00016
|
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu)
|
rs542646349
|
0.00016
|
NM_001292063.2(OTOG):c.3819G>A (p.Ala1273=)
|
rs750862882
|
0.00016
|
NM_001292063.2(OTOG):c.540+8C>T
|
rs1027600196
|
0.00016
|
NM_001292063.2(OTOG):c.6006G>A (p.Pro2002=)
|
rs554657199
|
0.00016
|
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=)
|
rs367648094
|
0.00016
|
NM_001378609.3(OTOGL):c.3555C>T (p.Tyr1185=)
|
rs374198258
|
0.00016
|
NM_001379180.1(ESRRB):c.1176C>T (p.His392=)
|
rs370193367
|
0.00016
|
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)
|
rs111033449
|
0.00016
|
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=)
|
rs141737883
|
0.00016
|
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=)
|
rs397517443
|
0.00016
|
NM_001692.4(ATP6V1B1):c.368-6C>T
|
rs200038589
|
0.00016
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
0.00016
|
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=)
|
rs147961725
|
0.00016
|
NM_002473.6(MYH9):c.4956C>T (p.Arg1652=)
|
rs148632964
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_002880.4(RAF1):c.576A>G (p.Gln192=)
|
rs148759910
|
0.00016
|
NM_004004.6(GJB2):c.186C>T (p.Asn62=)
|
rs397516869
|
0.00016
|
NM_004100.5(EYA4):c.1739-48C>T
|
rs148180981
|
0.00016
|
NM_004230.4(S1PR2):c.673G>A (p.Ala225Thr)
|
rs143046723
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
|
rs201638005
|
0.00016
|
NM_004333.6(BRAF):c.483G>C (p.Leu161=)
|
rs61730029
|
0.00016
|
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=)
|
rs200062984
|
0.00016
|
NM_004700.4(KCNQ4):c.735G>A (p.Gly245=)
|
rs147751558
|
0.00016
|
NM_004985.5(KRAS):c.198A>G (p.Ala66=)
|
rs200229810
|
0.00016
|
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=)
|
rs369299884
|
0.00016
|
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr)
|
rs148582008
|
0.00016
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
NM_006005.3(WFS1):c.1441C>T (p.Leu481=)
|
rs727504663
|
0.00016
|
NM_006005.3(WFS1):c.2013G>A (p.Ala671=)
|
rs147262416
|
0.00016
|
NM_006005.3(WFS1):c.825G>A (p.Ala275=)
|
rs566634291
|
0.00016
|
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met)
|
rs202112717
|
0.00016
|
NM_006393.3(NEBL):c.258+1G>A
|
rs139581346
|
0.00016
|
NM_006393.3(NEBL):c.2775C>T (p.Pro925=)
|
rs199887353
|
0.00016
|
NM_007078.3(LDB3):c.159C>T (p.Asp53=)
|
rs200114285
|
0.00016
|
NM_007214.5(SEC63):c.340-8T>C
|
rs1569556
|
0.00016
|
NM_014000.3(VCL):c.1842G>A (p.Thr614=)
|
rs144117013
|
0.00016
|
NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=)
|
rs768299371
|
0.00016
|
NM_016239.4(MYO15A):c.4482+10C>T
|
rs200857668
|
0.00016
|
NM_016239.4(MYO15A):c.5100C>T (p.Thr1700=)
|
rs529758445
|
0.00016
|
NM_016239.4(MYO15A):c.5568G>A (p.Pro1856=)
|
rs374927379
|
0.00016
|
NM_016239.4(MYO15A):c.6060C>T (p.Ala2020=)
|
rs370091178
|
0.00016
|
NM_016929.5(CLIC5):c.351C>T (p.Asp117=)
|
rs139356265
|
0.00016
|
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=)
|
rs145005748
|
0.00016
|
NM_022114.4(PRDM16):c.1578G>A (p.Pro526=)
|
rs376747653
|
0.00016
|
NM_022124.6(CDH23):c.6050-10C>T
|
rs560760228
|
0.00016
|
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val)
|
rs368795540
|
0.00016
|
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
|
rs1996552
|
0.00016
|
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)
|
rs115239207
|
0.00016
|
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=)
|
rs201453118
|
0.00016
|
NM_032119.4(ADGRV1):c.14575G>A (p.Gly4859Ser)
|
rs747275713
|
0.00016
|
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=)
|
rs371091564
|
0.00016
|
NM_033337.3(CAV3):c.144T>C (p.Pro48=)
|
rs149287333
|
0.00016
|
NM_133261.3(GIPC3):c.626G>A (p.Cys209Tyr)
|
rs374129877
|
0.00016
|
NM_138691.3(TMC1):c.822G>A (p.Pro274=)
|
rs370523728
|
0.00016
|
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=)
|
rs377439949
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
NM_174878.3(CLRN1):c.226T>C (p.Leu76=)
|
rs139829306
|
0.00016
|
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=)
|
rs138885901
|
0.00016
|
NM_194248.3(OTOF):c.2949C>T (p.Pro983=)
|
rs200246317
|
0.00016
|
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=)
|
rs141082575
|
0.00016
|
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)
|
rs150406015
|
0.00016
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00016
|
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=)
|
rs769363556
|
0.00015
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=)
|
rs368706722
|
0.00015
|
NM_000260.4(MYO7A):c.3630+7A>G
|
rs373958166
|
0.00015
|
NM_000260.4(MYO7A):c.5115C>T (p.Pro1705=)
|
rs111033411
|
0.00015
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00015
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_000432.4(MYL2):c.243G>T (p.Val81=)
|
rs368851472
|
0.00015
|
NM_000514.4(GDNF):c.222A>G (p.Arg74=)
|
rs139694199
|
0.00015
|
NM_000601.6(HGF):c.471A>G (p.Pro157=)
|
rs142045938
|
0.00015
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
NM_001018005.2(TPM1):c.115-316G>A
|
rs397516491
|
0.00015
|
NM_001032283.3(TMPO):c.565+2376C>T
|
rs202035749
|
0.00015
|
NM_001105206.3(LAMA4):c.3087C>T (p.Pro1029=)
|
rs146880158
|
0.00015
|
NM_001128228.3(TPRN):c.1743C>T (p.Asn581=)
|
rs146518581
|
0.00015
|
NM_001145809.2(MYH14):c.1210+12G>A
|
rs367560074
|
0.00015
|
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=)
|
rs534463809
|
0.00015
|
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)
|
rs181679744
|
0.00015
|
NM_001369.3(DNAH5):c.4687G>A (p.Gly1563Ser)
|
rs147567352
|
0.00015
|
NM_001378609.3(OTOGL):c.5502C>T (p.Ser1834=)
|
rs372006140
|
0.00015
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
0.00015
|
NM_002230.4(JUP):c.2086+13C>T
|
rs199935213
|
0.00015
|
NM_002294.3(LAMP2):c.1093+2450G>A
|
rs149783672
|
0.00015
|
NM_002473.6(MYH9):c.2295C>T (p.Ala765=)
|
rs150133983
|
0.00015
|
NM_003803.4(MYOM1):c.1627G>A (p.Gly543Arg)
|
rs370063864
|
0.00015
|
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)
|
rs146999911
|
0.00015
|
NM_004568.6(SERPINB6):c.125A>C (p.Tyr42Ser)
|
rs147962494
|
0.00015
|
NM_004817.4(TJP2):c.3407+7G>A
|
rs369322645
|
0.00015
|
NM_004985.5(KRAS):c.-27C>T
|
rs587781013
|
0.00015
|
NM_005159.5(ACTC1):c.-22-15C>G
|
rs368171271
|
0.00015
|
NM_005422.4(TECTA):c.33C>A (p.Val11=)
|
rs140393508
|
0.00015
|
NM_006005.3(WFS1):c.2667G>A (p.Ala889=)
|
rs71526454
|
0.00015
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
NM_144672.4(OTOA):c.1821G>A (p.Ala607=)
|
rs143993346
|
0.00015
|
NM_194248.3(OTOF):c.446C>T (p.Thr149Met)
|
rs140454738
|
0.00015
|
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro)
|
rs145114473
|
0.00015
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=)
|
rs372423505
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=)
|
rs1805118
|
0.00014
|
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=)
|
rs200669271
|
0.00014
|
NM_000256.3(MYBPC3):c.2149-5C>T
|
rs36211722
|
0.00014
|
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=)
|
rs532996422
|
0.00014
|
NM_000257.4(MYH7):c.3861G>C (p.Leu1287=)
|
rs150292548
|
0.00014
|
NM_000257.4(MYH7):c.957C>T (p.Thr319=)
|
rs368699342
|
0.00014
|
NM_000260.4(MYO7A):c.1587C>T (p.Asn529=)
|
rs372325609
|
0.00014
|
NM_000432.4(MYL2):c.274+8C>T
|
rs397516400
|
0.00014
|
NM_001018005.2(TPM1):c.114+14C>T
|
rs576659891
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001103.4(ACTN2):c.615+15C>T
|
rs369293885
|
0.00014
|
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=)
|
rs150809897
|
0.00014
|
NM_001122659.3(EDNRB):c.732G>A (p.Thr244=)
|
rs186620070
|
0.00014
|
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=)
|
rs373851693
|
0.00014
|
NM_001134363.3(RBM20):c.1497C>T (p.Pro499=)
|
rs727505095
|
0.00014
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
NM_001145809.2(MYH14):c.858C>T (p.Gly286=)
|
rs376429869
|
0.00014
|
NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=)
|
rs147181936
|
0.00014
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)
|
rs372802604
|
0.00014
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00014
|
NM_001267550.2(TTN):c.49648+13T>A
|
rs368996176
|
0.00014
|
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)
|
rs397517627
|
0.00014
|
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)
|
rs558830502
|
0.00014
|
NM_001267550.2(TTN):c.87111G>A (p.Glu29037=)
|
rs374902148
|
0.00014
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001292063.2(OTOG):c.5051C>T (p.Pro1684Leu)
|
rs553479177
|
0.00014
|
NM_001369.3(DNAH5):c.13492-15T>C
|
rs192514899
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr)
|
rs78377084
|
0.00014
|
NM_001379180.1(ESRRB):c.726G>A (p.Pro242=)
|
rs370195063
|
0.00014
|
NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln)
|
rs188715129
|
0.00014
|
NM_001393500.2(TOMT):c.745A>C (p.Ile249Leu)
|
rs727503153
|
0.00014
|
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)
|
rs891844407
|
0.00014
|
NM_002230.4(JUP):c.708-4C>G
|
rs201313464
|
0.00014
|
NM_002230.4(JUP):c.801C>T (p.Ala267=)
|
rs138397457
|
0.00014
|
NM_002294.3(LAMP2):c.591G>A (p.Val197=)
|
rs201030806
|
0.00014
|
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser)
|
rs148962966
|
0.00014
|
NM_002471.4(MYH6):c.2429+14A>C
|
rs200817451
|
0.00014
|
NM_002473.6(MYH9):c.4308G>A (p.Ala1436=)
|
rs369577944
|
0.00014
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
NM_003803.4(MYOM1):c.4648+7A>G
|
rs555598943
|
0.00014
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val)
|
rs145266970
|
0.00014
|
NM_004985.5(KRAS):c.451-14T>C
|
rs372508498
|
0.00014
|
NM_004999.4(MYO6):c.2665A>G (p.Met889Val)
|
rs727505098
|
0.00014
|
NM_005422.4(TECTA):c.1320T>C (p.Asp440=)
|
rs141488594
|
0.00014
|
NM_005633.4(SOS1):c.1962G>A (p.Glu654=)
|
rs144382701
|
0.00014
|
NM_006005.3(WFS1):c.1399C>T (p.Leu467=)
|
rs142700542
|
0.00014
|
NM_006393.3(NEBL):c.240C>T (p.Ile80=)
|
rs727503337
|
0.00014
|
NM_006393.3(NEBL):c.480+11G>A
|
rs769167750
|
0.00014
|
NM_006393.3(NEBL):c.489T>C (p.Tyr163=)
|
rs141153708
|
0.00014
|
NM_007078.3(LDB3):c.897-14T>C
|
rs763081924
|
0.00014
|
NM_015340.4(LARS2):c.1383T>C (p.Ile461=)
|
rs35347543
|
0.00014
|
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr)
|
rs201541616
|
0.00014
|
NM_017433.5(MYO3A):c.906G>A (p.Thr302=)
|
rs139818474
|
0.00014
|
NM_021116.4(ADCY1):c.984C>T (p.Leu328=)
|
rs148862065
|
0.00014
|
NM_022114.4(PRDM16):c.2154G>A (p.Ser718=)
|
rs781041726
|
0.00014
|
NM_022124.6(CDH23):c.1206G>A (p.Pro402=)
|
rs397517304
|
0.00014
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00014
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099
|
0.00014
|
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=)
|
rs370762205
|
0.00014
|
NM_030662.4(MAP2K2):c.529-12G>A
|
rs375701469
|
0.00014
|
NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile)
|
rs138873805
|
0.00014
|
NM_031475.3(ESPN):c.*6G>A
|
rs200806495
|
0.00014
|
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile)
|
rs201677553
|
0.00014
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=)
|
rs150303579
|
0.00014
|
NM_057176.3(BSND):c.102C>T (p.Tyr34=)
|
rs141403253
|
0.00014
|
NM_080680.3(COL11A2):c.4590C>T (p.Thr1530=)
|
rs375329541
|
0.00014
|
NM_153676.4(USH1C):c.2617G>A (p.Val873Met)
|
rs201533059
|
0.00014
|
NM_153676.4(USH1C):c.684C>T (p.Ser228=)
|
rs149172005
|
0.00014
|
NM_153676.4(USH1C):c.790G>A (p.Val264Ile)
|
rs79875849
|
0.00014
|
NM_153700.2(STRC):c.3555G>A (p.Leu1185=)
|
rs2597064
|
0.00014
|
NM_181458.4(PAX3):c.1449C>T (p.Ile483=)
|
rs757964568
|
0.00014
|
NM_194248.3(OTOF):c.79+12G>A
|
rs201241987
|
0.00014
|
NM_194323.3(OTOF):c.3600C>T (p.Ile1200=)
|
rs145899319
|
0.00014
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00014
|
NM_206933.4(USH2A):c.15090G>A (p.Ser5030=)
|
rs397517997
|
0.00014
|
NM_206933.4(USH2A):c.1581C>T (p.Cys527=)
|
rs140331348
|
0.00014
|
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=)
|
rs397516054
|
0.00013
|
NM_000257.4(MYH7):c.3726+6C>T
|
rs377745688
|
0.00013
|
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=)
|
rs181126043
|
0.00013
|
NM_000260.4(MYO7A):c.2928G>A (p.Glu976=)
|
rs372223659
|
0.00013
|
NM_000307.5(POU3F4):c.753G>A (p.Leu251=)
|
rs779713849
|
0.00013
|
NM_000441.2(SLC26A4):c.90C>G (p.Leu30=)
|
rs566715839
|
0.00013
|
NM_001031679.3(MSRB3):c.-67G>C
|
rs368104588
|
0.00013
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln)
|
rs200528850
|
0.00013
|
NM_001145809.2(MYH14):c.810C>T (p.Phe270=)
|
rs374146214
|
0.00013
|
NM_001232.4(CASQ2):c.533-6C>T
|
rs545407254
|
0.00013
|
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His)
|
rs146159479
|
0.00013
|
NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg)
|
rs727504697
|
0.00013
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=)
|
rs141768043
|
0.00013
|
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=)
|
rs371730757
|
0.00013
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)
|
rs373509153
|
0.00013
|
NM_001292063.2(OTOG):c.7542C>G (p.Leu2514=)
|
rs752641698
|
0.00013
|
NM_001292063.2(OTOG):c.8004C>T (p.Tyr2668=)
|
rs892246727
|
0.00013
|
NM_001384474.1(LOXHD1):c.5097C>T (p.Asp1699=)
|
rs375851293
|
0.00013
|
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)
|
rs201994383
|
0.00013
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
NM_002230.4(JUP):c.1365C>T (p.Ala455=)
|
rs77375949
|
0.00013
|
NM_002473.6(MYH9):c.132C>T (p.Ala44=)
|
rs138526426
|
0.00013
|
NM_002755.4(MAP2K1):c.726G>T (p.Val242=)
|
rs373745627
|
0.00013
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
NM_003242.6(TGFBR2):c.94+16238C>T
|
rs149757320
|
0.00013
|
NM_004006.3(DMD):c.7244G>A (p.Arg2415His)
|
rs373749120
|
0.00013
|
NM_004568.6(SERPINB6):c.231C>T (p.Thr77=)
|
rs571234750
|
0.00013
|
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=)
|
rs367977493
|
0.00013
|
NM_004999.4(MYO6):c.553+13T>A
|
rs369806112
|
0.00013
|
NM_005219.5(DIAPH1):c.3662-14G>A
|
rs369935242
|
0.00013
|
NM_005422.4(TECTA):c.1425G>A (p.Pro475=)
|
rs149533095
|
0.00013
|
NM_005422.4(TECTA):c.1968C>A (p.Gly656=)
|
rs147246652
|
0.00013
|
NM_006005.3(WFS1):c.2610C>T (p.Thr870=)
|
rs727503754
|
0.00013
|
NM_006012.4(CLPP):c.555+15C>T
|
rs371120549
|
0.00013
|
NM_007078.3(LDB3):c.1956C>T (p.Asp652=)
|
rs139213290
|
0.00013
|
NM_007078.3(LDB3):c.714C>T (p.Ala238=)
|
rs727503125
|
0.00013
|
NM_016239.4(MYO15A):c.1602C>T (p.Phe534=)
|
rs547305039
|
0.00013
|
NM_017780.4(CHD7):c.5607+11G>A
|
rs369304706
|
0.00013
|
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=)
|
rs375800664
|
0.00013
|
NM_022114.4(PRDM16):c.1363G>A (p.Gly455Ser)
|
rs536908705
|
0.00013
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982
|
0.00013
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
NM_030662.4(MAP2K2):c.246C>T (p.Asn82=)
|
rs150942310
|
0.00013
|
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=)
|
rs368233443
|
0.00013
|
NM_032119.4(ADGRV1):c.1510-7A>T
|
rs182260529
|
0.00013
|
NM_032119.4(ADGRV1):c.18349G>A (p.Val6117Met)
|
rs200062593
|
0.00013
|
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=)
|
rs375077719
|
0.00013
|
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu)
|
rs200659780
|
0.00013
|
NM_057176.3(BSND):c.806G>A (p.Arg269Gln)
|
rs199832638
|
0.00013
|
NM_080680.3(COL11A2):c.2928G>A (p.Gly976=)
|
rs147004824
|
0.00013
|
NM_138691.3(TMC1):c.1225-8C>T
|
rs375785074
|
0.00013
|
NM_170682.4(P2RX2):c.762G>A (p.Glu254=)
|
rs144300117
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_203447.4(DOCK8):c.4998G>C (p.Val1666=)
|
rs370901183
|
0.00013
|
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr)
|
rs146980351
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=)
|
rs377292092
|
0.00012
|
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=)
|
rs201040413
|
0.00012
|
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys)
|
rs190765116
|
0.00012
|
NM_000257.4(MYH7):c.240C>T (p.Asn80=)
|
rs200493975
|
0.00012
|
NM_000260.4(MYO7A):c.4441+7C>T
|
rs372493678
|
0.00012
|
NM_000363.5(TNNI3):c.132G>C (p.Ser44=)
|
rs727504941
|
0.00012
|
NM_001005242.3(PKP2):c.1379-2005A>G
|
rs397516995
|
0.00012
|
NM_001005242.3(PKP2):c.306C>A (p.Ser102=)
|
rs376613662
|
0.00012
|
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=)
|
rs370629848
|
0.00012
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=)
|
rs562290651
|
0.00012
|
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys)
|
rs556541366
|
0.00012
|
NM_001199799.2(ILDR1):c.1378G>A (p.Gly460Arg)
|
rs559855953
|
0.00012
|
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)
|
rs376894729
|
0.00012
|
NM_001267550.2(TTN):c.107082G>A (p.Leu35694=)
|
rs727505278
|
0.00012
|
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=)
|
rs143845692
|
0.00012
|
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)
|
rs146219199
|
0.00012
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
NM_001267550.2(TTN):c.24505+13C>T
|
rs534803807
|
0.00012
|
NM_001267550.2(TTN):c.39045G>C (p.Val13015=)
|
rs192464868
|
0.00012
|
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile)
|
rs374394719
|
0.00012
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
NM_001292063.2(OTOG):c.7959G>A (p.Glu2653=)
|
rs762613093
|
0.00012
|
NM_001354604.2(MITF):c.666+15G>C
|
rs201698367
|
0.00012
|
NM_001370649.1(CLIC5):c.-55+49690T>A
|
rs376156807
|
0.00012
|
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val)
|
rs377282102
|
0.00012
|
NM_002230.4(JUP):c.1959C>T (p.Ser653=)
|
rs375451560
|
0.00012
|
NM_002471.4(MYH6):c.3342+10T>C
|
rs552662475
|
0.00012
|
NM_002473.6(MYH9):c.1212G>A (p.Ala404=)
|
rs148832136
|
0.00012
|
NM_002473.6(MYH9):c.5709C>T (p.Ala1903=)
|
rs145444485
|
0.00012
|
NM_004999.4(MYO6):c.441C>T (p.Ile147=)
|
rs565770950
|
0.00012
|
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)
|
rs140261885
|
0.00012
|
NM_005228.5(EGFR):c.2166G>A (p.Ala722=)
|
rs367694667
|
0.00012
|
NM_006012.4(CLPP):c.39G>A (p.Ala13=)
|
rs779446991
|
0.00012
|
NM_006383.4(CIB2):c.192G>A (p.Glu64=)
|
rs145415848
|
0.00012
|
NM_014000.3(VCL):c.2796T>C (p.Asp932=)
|
rs140308982
|
0.00012
|
NM_014000.3(VCL):c.378C>T (p.Phe126=)
|
rs148966602
|
0.00012
|
NM_016239.4(MYO15A):c.6720C>G (p.Ser2240=)
|
rs367799231
|
0.00012
|
NM_016599.5(MYOZ2):c.76+10A>G
|
rs372006344
|
0.00012
|
NM_020297.4(ABCC9):c.2339+13A>G
|
rs189255166
|
0.00012
|
NM_021116.4(ADCY1):c.2338G>A (p.Val780Ile)
|
rs140746527
|
0.00012
|
NM_024009.3(GJB3):c.372C>T (p.His124=)
|
rs145436095
|
0.00012
|
NM_030662.4(MAP2K2):c.581-8G>A
|
rs369262004
|
0.00012
|
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=)
|
rs549704545
|
0.00012
|
NM_133379.5(TTN):c.12153C>T (p.Asp4051=)
|
rs200304872
|
0.00012
|
NM_144991.3(TSPEAR):c.138C>T (p.Ser46=)
|
rs781956758
|
0.00012
|
NM_206933.4(USH2A):c.1623G>A (p.Glu541=)
|
rs146805130
|
0.00012
|
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=)
|
rs369778429
|
0.00012
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=)
|
rs35690719
|
0.00011
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
NM_000257.4(MYH7):c.345C>T (p.Tyr115=)
|
rs149439730
|
0.00011
|
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=)
|
rs374289523
|
0.00011
|
NM_000260.4(MYO7A):c.1798-11C>T
|
rs782146561
|
0.00011
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
NM_000260.4(MYO7A):c.3375+14C>A
|
rs782500012
|
0.00011
|
NM_000260.4(MYO7A):c.4568+13G>A
|
rs532356676
|
0.00011
|
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
|
rs372970828
|
0.00011
|
NM_000432.4(MYL2):c.33G>A (p.Gly11=)
|
rs199742269
|
0.00011
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
NM_001018005.2(TPM1):c.726G>A (p.Ala242=)
|
rs200484871
|
0.00011
|
NM_001031679.3(MSRB3):c.234A>G (p.Lys78=)
|
rs143333399
|
0.00011
|
NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His)
|
rs746541677
|
0.00011
|
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr)
|
rs397516720
|
0.00011
|
NM_001128840.3(CACNA1D):c.132T>C (p.Asn44=)
|
rs377363390
|
0.00011
|
NM_001134363.3(RBM20):c.1275+8G>T
|
rs727505318
|
0.00011
|
NM_001232.4(CASQ2):c.540G>A (p.Lys180=)
|
rs72554057
|
0.00011
|
NM_001243133.2(NLRP3):c.906C>T (p.Phe302=)
|
rs756989752
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.15775+14C>T
|
rs151057960
|
0.00011
|
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)
|
rs376037792
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.19715-4A>G
|
rs375009631
|
0.00011
|
NM_001267550.2(TTN):c.25065G>A (p.Ala8355=)
|
rs397517514
|
0.00011
|
NM_001267550.2(TTN):c.27915A>G (p.Arg9305=)
|
rs367900368
|
0.00011
|
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)
|
rs369095270
|
0.00011
|
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp)
|
rs144672482
|
0.00011
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)
|
rs201380749
|
0.00011
|
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn)
|
rs376679796
|
0.00011
|
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala)
|
rs556720151
|
0.00011
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
NM_001292063.2(OTOG):c.783G>T (p.Met261Ile)
|
rs118083195
|
0.00011
|
NM_001318895.3(FHL2):c.192C>T (p.Ala64=)
|
rs199943518
|
0.00011
|
NM_001363118.2(SLC52A2):c.1209G>A (p.Pro403=)
|
rs374612342
|
0.00011
|
NM_001363118.2(SLC52A2):c.822C>A (p.Ala274=)
|
rs145009003
|
0.00011
|
NM_002230.4(JUP):c.1989C>T (p.Arg663=)
|
rs145175985
|
0.00011
|
NM_002471.4(MYH6):c.1410C>T (p.Asp470=)
|
rs139886074
|
0.00011
|
NM_002471.4(MYH6):c.2097C>T (p.Gly699=)
|
rs149734381
|
0.00011
|
NM_002471.4(MYH6):c.2464G>A (p.Ala822Thr)
|
rs138419275
|
0.00011
|
NM_002471.4(MYH6):c.2805C>T (p.Asn935=)
|
rs757958461
|
0.00011
|
NM_002473.6(MYH9):c.1980G>A (p.Thr660=)
|
rs200975323
|
0.00011
|
NM_002473.6(MYH9):c.5277C>T (p.Ile1759=)
|
rs183105164
|
0.00011
|
NM_002834.5(PTPN11):c.1224+15G>A
|
rs373271861
|
0.00011
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
NM_002906.4(RDX):c.471A>G (p.Val157=)
|
rs376917034
|
0.00011
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
|
rs181378432
|
0.00011
|
NM_004447.6(EPS8):c.2313G>A (p.Ala771=)
|
rs761418186
|
0.00011
|
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)
|
rs201267786
|
0.00011
|
NM_004700.4(KCNQ4):c.909C>T (p.Phe303=)
|
rs773015201
|
0.00011
|
NM_004999.4(MYO6):c.3393A>G (p.Pro1131=)
|
rs768505655
|
0.00011
|
NM_004999.4(MYO6):c.600C>T (p.Asn200=)
|
rs145665265
|
0.00011
|
NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=)
|
rs750444501
|
0.00011
|
NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser)
|
rs370849059
|
0.00011
|
NM_005343.4(HRAS):c.330C>T (p.Pro110=)
|
rs200747280
|
0.00011
|
NM_005422.4(TECTA):c.915C>T (p.Cys305=)
|
rs367974065
|
0.00011
|
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=)
|
rs373319212
|
0.00011
|
NM_006073.4(TRDN):c.129G>A (p.Thr43=)
|
rs373840513
|
0.00011
|
NM_006073.4(TRDN):c.793+27G>A
|
rs189106156
|
0.00011
|
NM_015404.4(WHRN):c.2112G>T (p.Leu704=)
|
rs535492772
|
0.00011
|
NM_016239.4(MYO15A):c.4461C>T (p.Asn1487=)
|
rs201076604
|
0.00011
|
NM_020297.4(ABCC9):c.3288T>C (p.Phe1096=)
|
rs377372612
|
0.00011
|
NM_020297.4(ABCC9):c.96C>T (p.Val32=)
|
rs727505034
|
0.00011
|
NM_022124.6(CDH23):c.1227G>A (p.Ala409=)
|
rs371212430
|
0.00011
|
NM_022124.6(CDH23):c.1450-4G>A
|
rs374549358
|
0.00011
|
NM_024747.6(HPS6):c.2238A>G (p.Gln746=)
|
rs371739854
|
0.00011
|
NM_024915.4(GRHL2):c.849C>T (p.Thr283=)
|
rs138628340
|
0.00011
|
NM_032119.4(ADGRV1):c.10293C>T (p.Asn3431=)
|
rs763452527
|
0.00011
|
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)
|
rs373354231
|
0.00011
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=)
|
rs201983595
|
0.00011
|
NM_032119.4(ADGRV1):c.7294G>A (p.Val2432Met)
|
rs111033531
|
0.00011
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
NM_033118.4(MYLK2):c.281C>T (p.Pro94Leu)
|
rs201134349
|
0.00011
|
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln)
|
rs199861879
|
0.00011
|
NM_144573.4(NEXN):c.688-10G>A
|
rs370574269
|
0.00011
|
NM_153676.4(USH1C):c.2538C>T (p.Asp846=)
|
rs143860238
|
0.00011
|
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=)
|
rs370128838
|
0.00011
|
NM_181458.4(PAX3):c.958+9G>A
|
rs185119406
|
0.00011
|
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)
|
rs181805996
|
0.00011
|
NM_194248.3(OTOF):c.1977G>A (p.Pro659=)
|
rs145589784
|
0.00011
|
NM_194248.3(OTOF):c.328-11C>T
|
rs369879663
|
0.00011
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00011
|
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=)
|
rs200287425
|
0.00011
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)
|
rs188093326
|
0.00011
|
NM_213569.2(NEBL):c.69+15G>T
|
rs377648518
|
0.00011
|
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)
|
rs80358387
|
0.00010
|
NM_000256.3(MYBPC3):c.402C>T (p.Pro134=)
|
rs397516046
|
0.00010
|
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=)
|
rs377520770
|
0.00010
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr)
|
rs374576916
|
0.00010
|
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=)
|
rs376301325
|
0.00010
|
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=)
|
rs200556220
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000337.6(SGCD):c.394G>A (p.Val132Ile)
|
rs367819390
|
0.00010
|
NM_000432.4(MYL2):c.274+9G>A
|
rs371405579
|
0.00010
|
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)
|
rs138462416
|
0.00010
|
NM_000601.6(HGF):c.258T>C (p.Ala86=)
|
rs370202240
|
0.00010
|
NM_000720.4(CACNA1D):c.1504G>A (p.Ala502Thr)
|
rs773409037
|
0.00010
|
NM_001018005.2(TPM1):c.522C>T (p.Ser174=)
|
rs200173919
|
0.00010
|
NM_001018116.2(CAVIN4):c.939G>A (p.Glu313=)
|
rs778284038
|
0.00010
|
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=)
|
rs368103385
|
0.00010
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=)
|
rs570566104
|
0.00010
|
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=)
|
rs191631773
|
0.00010
|
NM_001105206.3(LAMA4):c.3819C>T (p.Phe1273=)
|
rs138232283
|
0.00010
|
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)
|
rs180177462
|
0.00010
|
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)
|
rs372521529
|
0.00010
|
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)
|
rs369896045
|
0.00010
|
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)
|
rs377337528
|
0.00010
|
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys)
|
rs727504586
|
0.00010
|
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)
|
rs201506104
|
0.00010
|
NM_001267550.2(TTN):c.2151C>T (p.Pro717=)
|
rs374570732
|
0.00010
|
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)
|
rs370973715
|
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.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn)
|
rs192962624
|
0.00010
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
NM_001292063.2(OTOG):c.2486+7G>A
|
rs774905533
|
0.00010
|
NM_001292063.2(OTOG):c.3017A>T (p.Asp1006Val)
|
rs551850126
|
0.00010
|
NM_001330.5(CTF1):c.144+7G>T
|
rs374359365
|
0.00010
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
NM_001378609.3(OTOGL):c.6882C>T (p.Asp2294=)
|
rs751285103
|
0.00010
|
NM_001379180.1(ESRRB):c.*7C>T
|
rs374018995
|
0.00010
|
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=)
|
rs144955298
|
0.00010
|
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=)
|
rs141969350
|
0.00010
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
NM_002471.4(MYH6):c.5514G>T (p.Ser1838=)
|
rs727503232
|
0.00010
|
NM_002473.6(MYH9):c.1149C>T (p.Thr383=)
|
rs143974891
|
0.00010
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)
|
rs200213555
|
0.00010
|
NM_004006.3(DMD):c.7596C>T (p.Thr2532=)
|
rs778412539
|
0.00010
|
NM_004230.4(S1PR2):c.729C>T (p.Ile243=)
|
rs148315102
|
0.00010
|
NM_004333.6(BRAF):c.1632T>C (p.Ile544=)
|
rs149702741
|
0.00010
|
NM_004415.4(DSP):c.5304G>C (p.Gly1768=)
|
rs530612211
|
0.00010
|
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=)
|
rs78843072
|
0.00010
|
NM_004415.4(DSP):c.8493G>C (p.Ser2831=)
|
rs397516969
|
0.00010
|
NM_004447.6(EPS8):c.670G>A (p.Val224Ile)
|
rs758506896
|
0.00010
|
NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=)
|
rs140945833
|
0.00010
|
NM_004817.4(TJP2):c.2880+72G>A
|
rs397516632
|
0.00010
|
NM_005228.5(EGFR):c.2457G>A (p.Val819=)
|
rs56183713
|
0.00010
|
NM_005379.4(MYO1A):c.48G>T (p.Leu16=)
|
rs201000642
|
0.00010
|
NM_005422.4(TECTA):c.3315C>T (p.Tyr1105=)
|
rs142573400
|
0.00010
|
NM_005548.3(KARS1):c.1275T>C (p.Asp425=)
|
rs779241883
|
0.00010
|
NM_005548.3(KARS1):c.1551+10G>A
|
rs367722503
|
0.00010
|
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu)
|
rs189654215
|
0.00010
|
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)
|
rs143763650
|
0.00010
|
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)
|
rs142482217
|
0.00010
|
NM_016239.4(MYO15A):c.3866+12G>A
|
rs533500962
|
0.00010
|
NM_016239.4(MYO15A):c.9494G>A (p.Arg3165Gln)
|
rs780281329
|
0.00010
|
NM_020297.4(ABCC9):c.852T>A (p.Ser284=)
|
rs113562970
|
0.00010
|
NM_022114.4(PRDM16):c.714C>A (p.Leu238=)
|
rs371540074
|
0.00010
|
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile)
|
rs111033519
|
0.00010
|
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)
|
rs186866326
|
0.00010
|
NM_022124.6(CDH23):c.8856G>A (p.Arg2952=)
|
rs377598904
|
0.00010
|
NM_024915.4(GRHL2):c.1416T>C (p.Pro472=)
|
rs371708806
|
0.00010
|
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)
|
rs201180985
|
0.00010
|
NM_033337.3(CAV3):c.168C>T (p.Gly56=)
|
rs116840774
|
0.00010
|
NM_057176.3(BSND):c.457G>A (p.Asp153Asn)
|
rs202128855
|
0.00010
|
NM_080680.3(COL11A2):c.1179+8A>T
|
rs773318336
|
0.00010
|
NM_133379.5(TTN):c.10410C>T (p.Asp3470=)
|
rs727505183
|
0.00010
|
NM_144672.4(OTOA):c.396C>T (p.Gly132=)
|
rs147717988
|
0.00010
|
NM_152594.3(SPRED1):c.177T>C (p.Phe59=)
|
rs397517871
|
0.00010
|
NM_153700.2(STRC):c.4845C>T (p.Ser1615=)
|
rs184909019
|
0.00010
|
NM_194248.3(OTOF):c.5813+15G>A
|
rs371649088
|
0.00010
|
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=)
|
rs141528682
|
0.00010
|
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met)
|
rs200570742
|
0.00010
|
NM_206933.4(USH2A):c.6958-5C>T
|
rs147914083
|
0.00010
|
NM_213569.2(NEBL):c.165-6C>G
|
rs201869237
|
0.00010
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)
|
rs200860702
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000257.4(MYH7):c.2091T>C (p.Gly697=)
|
rs140380523
|
0.00009
|
NM_000257.4(MYH7):c.327C>T (p.Tyr109=)
|
rs36211408
|
0.00009
|
NM_000260.4(MYO7A):c.2091G>A (p.Lys697=)
|
rs768972429
|
0.00009
|
NM_000260.4(MYO7A):c.3750+7G>A
|
rs397516305
|
0.00009
|
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)
|
rs111033376
|
0.00009
|
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=)
|
rs758921557
|
0.00009
|
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=)
|
rs564847999
|
0.00009
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
NM_000441.2(SLC26A4):c.61A>G (p.Met21Val)
|
rs375716219
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_000601.6(HGF):c.270T>C (p.Asp90=)
|
rs145598174
|
0.00009
|
NM_001035.3(RYR2):c.5754C>T (p.Val1918=)
|
rs397516545
|
0.00009
|
NM_001039141.3(TRIOBP):c.5529G>A (p.Thr1843=)
|
rs531565607
|
0.00009
|
NM_001039141.3(TRIOBP):c.6324+177G>A
|
rs150061404
|
0.00009
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
0.00009
|
NM_001042702.5(PJVK):c.405A>C (p.Thr135=)
|
rs373800401
|
0.00009
|
NM_001089.3(ABCA3):c.2898C>T (p.Thr966=)
|
rs374605569
|
0.00009
|
NM_001089.3(ABCA3):c.4617C>T (p.Asp1539=)
|
rs369494610
|
0.00009
|
NM_001103.4(ACTN2):c.165C>T (p.Ala55=)
|
rs193922634
|
0.00009
|
NM_001105206.3(LAMA4):c.5442C>T (p.Ala1814=)
|
rs200300118
|
0.00009
|
NM_001145809.2(MYH14):c.693+12C>T
|
rs370673291
|
0.00009
|
NM_001199107.2(TBC1D24):c.1302+14A>C
|
rs528462687
|
0.00009
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=)
|
rs186672543
|
0.00009
|
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)
|
rs773237428
|
0.00009
|
NM_001256317.3(TMPRSS3):c.300C>T (p.Asp100=)
|
rs146621712
|
0.00009
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)
|
rs143030869
|
0.00009
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
NM_001267550.2(TTN):c.18307+12A>G
|
rs376899412
|
0.00009
|
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)
|
rs201904848
|
0.00009
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
NM_001267550.2(TTN):c.33418+12C>A
|
rs199772748
|
0.00009
|
NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe)
|
rs551911856
|
0.00009
|
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=)
|
rs369128249
|
0.00009
|
NM_001267550.2(TTN):c.41982T>C (p.Pro13994=)
|
rs777609108
|
0.00009
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001267550.2(TTN):c.59073T>C (p.Asp19691=)
|
rs775577598
|
0.00009
|
NM_001267550.2(TTN):c.64005G>A (p.Glu21335=)
|
rs749889687
|
0.00009
|
NM_001267550.2(TTN):c.68225-5T>C
|
rs758273663
|
0.00009
|
NM_001267550.2(TTN):c.79072G>A (p.Val26358Ile)
|
rs774747865
|
0.00009
|
NM_001267550.2(TTN):c.83820C>T (p.Asn27940=)
|
rs727503555
|
0.00009
|
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=)
|
rs531445644
|
0.00009
|
NM_001267550.2(TTN):c.93292G>A (p.Val31098Ile)
|
rs760282296
|
0.00009
|
NM_001267550.2(TTN):c.98203A>G (p.Ile32735Val)
|
rs761246331
|
0.00009
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
0.00009
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)
|
rs397516481
|
0.00009
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
NM_001292063.2(OTOG):c.4826C>T (p.Pro1609Leu)
|
rs937557181
|
0.00009
|
NM_001292063.2(OTOG):c.4896G>A (p.Thr1632=)
|
rs143785785
|
0.00009
|
NM_001292063.2(OTOG):c.7585+11C>T
|
rs369343034
|
0.00009
|
NM_001292063.2(OTOG):c.7693+11G>A
|
rs976807214
|
0.00009
|
NM_001318895.3(FHL2):c.392G>A (p.Arg131His)
|
rs371421189
|
0.00009
|
NM_001371333.1(DIABLO):c.175A>G (p.Ile59Val)
|
rs574777883
|
0.00009
|
NM_001378609.3(OTOGL):c.4446T>C (p.Tyr1482=)
|
rs376273459
|
0.00009
|
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr)
|
rs775475186
|
0.00009
|
NM_001384474.1(LOXHD1):c.3471C>T (p.Gly1157=)
|
rs727503141
|
0.00009
|
NM_001614.5(ACTG1):c.45C>T (p.Gly15=)
|
rs145574149
|
0.00009
|
NM_001614.5(ACTG1):c.954C>T (p.Thr318=)
|
rs3211110
|
0.00009
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
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_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_004006.3(DMD):c.3270G>A (p.Gln1090=)
|
rs373475857
|
0.00009
|
NM_004085.4(TIMM8A):c.15C>T (p.Ser5=)
|
rs369736736
|
0.00009
|
NM_004100.5(EYA4):c.9C>T (p.Asp3=)
|
rs374322196
|
0.00009
|
NM_004230.4(S1PR2):c.558C>T (p.Tyr186=)
|
rs199954220
|
0.00009
|
NM_004415.4(DSP):c.3981C>T (p.Ile1327=)
|
rs397516934
|
0.00009
|
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr)
|
rs191778417
|
0.00009
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
NM_004447.6(EPS8):c.589G>A (p.Asp197Asn)
|
rs150255928
|
0.00009
|
NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=)
|
rs552843990
|
0.00009
|
NM_004817.4(TJP2):c.2859G>T (p.Ser953=)
|
rs369972534
|
0.00009
|
NM_005188.4(CBL):c.2223G>A (p.Ala741=)
|
rs202229538
|
0.00009
|
NM_005219.5(DIAPH1):c.1397-14C>T
|
rs201444168
|
0.00009
|
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=)
|
rs189900453
|
0.00009
|
NM_005422.4(TECTA):c.2574C>T (p.Asp858=)
|
rs150564356
|
0.00009
|
NM_006016.6(CD164):c.330C>T (p.Ser110=)
|
rs199887608
|
0.00009
|
NM_006393.3(NEBL):c.120A>G (p.Glu40=)
|
rs397517203
|
0.00009
|
NM_007078.3(LDB3):c.1071T>A (p.Pro357=)
|
rs143823978
|
0.00009
|
NM_007078.3(LDB3):c.493C>T (p.Arg165Trp)
|
rs45610637
|
0.00009
|
NM_014000.3(VCL):c.1290C>T (p.Asp430=)
|
rs576271894
|
0.00009
|
NM_014000.3(VCL):c.2142C>T (p.Asp714=)
|
rs373790383
|
0.00009
|
NM_014000.3(VCL):c.2799G>A (p.Ala933=)
|
rs199507346
|
0.00009
|
NM_014000.3(VCL):c.3066C>T (p.Ile1022=)
|
rs138619320
|
0.00009
|
NM_015404.4(WHRN):c.1611C>T (p.Thr537=)
|
rs201280818
|
0.00009
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=)
|
rs397517276
|
0.00009
|
NM_016239.4(MYO15A):c.1047C>T (p.Tyr349=)
|
rs567657743
|
0.00009
|
NM_016239.4(MYO15A):c.642C>T (p.Phe214=)
|
rs766970263
|
0.00009
|
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His)
|
rs377389290
|
0.00009
|
NM_016599.5(MYOZ2):c.303G>A (p.Ser101=)
|
rs527258961
|
0.00009
|
NM_017827.4(SARS2):c.589+9C>T
|
rs747815067
|
0.00009
|
NM_020433.5(JPH2):c.1169+10C>T
|
rs372219237
|
0.00009
|
NM_021116.4(ADCY1):c.2187T>C (p.His729=)
|
rs145126980
|
0.00009
|
NM_022114.4(PRDM16):c.2856G>A (p.Thr952=)
|
rs563342786
|
0.00009
|
NM_022124.6(CDH23):c.2854G>A (p.Glu952Lys)
|
rs370554545
|
0.00009
|
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met)
|
rs397517319
|
0.00009
|
NM_022124.6(CDH23):c.825C>T (p.Ile275=)
|
rs376436182
|
0.00009
|
NM_022124.6(CDH23):c.8499C>T (p.Arg2833=)
|
rs397517358
|
0.00009
|
NM_022124.6(CDH23):c.8829G>A (p.Thr2943=)
|
rs369023265
|
0.00009
|
NM_030662.4(MAP2K2):c.*9G>A
|
rs397517410
|
0.00009
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680
|
0.00009
|
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)
|
rs375062187
|
0.00009
|
NM_032119.4(ADGRV1):c.6925G>A (p.Ala2309Thr)
|
rs201528839
|
0.00009
|
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)
|
rs200179979
|
0.00009
|
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu)
|
rs201245117
|
0.00009
|
NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=)
|
rs367881384
|
0.00009
|
NM_080680.3(COL11A2):c.2628+14G>A
|
rs559123089
|
0.00009
|
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=)
|
rs372250466
|
0.00009
|
NM_133261.3(GIPC3):c.871G>A (p.Ala291Thr)
|
rs199951984
|
0.00009
|
NM_133379.5(TTN):c.13746A>G (p.Gln4582=)
|
rs201945197
|
0.00009
|
NM_138691.3(TMC1):c.760G>A (p.Val254Ile)
|
rs111033497
|
0.00009
|
NM_144573.4(NEXN):c.949A>C (p.Met317Leu)
|
rs559464457
|
0.00009
|
NM_144672.4(OTOA):c.180-12C>T
|
rs776210902
|
0.00009
|
NM_144672.4(OTOA):c.2153A>G (p.Asp718Gly)
|
rs767518359
|
0.00009
|
NM_144991.3(TSPEAR):c.411G>A (p.Thr137=)
|
rs140923114
|
0.00009
|
NM_153676.4(USH1C):c.1731G>A (p.Pro577=)
|
rs199572804
|
0.00009
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
NM_170707.4(LMNA):c.150C>T (p.Arg50=)
|
rs397517894
|
0.00009
|
NM_194248.3(OTOF):c.5523C>T (p.Asp1841=)
|
rs145894536
|
0.00009
|
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=)
|
rs369335995
|
0.00009
|
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=)
|
rs138064171
|
0.00009
|
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=)
|
rs768759268
|
0.00009
|
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=)
|
rs143683292
|
0.00009
|
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)
|
rs140751478
|
0.00008
|
NM_000218.3(KCNQ1):c.804C>T (p.Ile268=)
|
rs373227792
|
0.00008
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
NM_000256.3(MYBPC3):c.93C>T (p.Ala31=)
|
rs397516085
|
0.00008
|
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)
|
rs45560242
|
0.00008
|
NM_000258.3(MYL3):c.516G>A (p.Leu172=)
|
rs367761724
|
0.00008
|
NM_000260.4(MYO7A):c.2421C>T (p.His807=)
|
rs782218928
|
0.00008
|
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=)
|
rs111033331
|
0.00008
|
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=)
|
rs372311564
|
0.00008
|
NM_000335.5(SCN5A):c.2268C>T (p.Phe756=)
|
rs372271677
|
0.00008
|
NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=)
|
rs371686822
|
0.00008
|
NM_001005242.3(PKP2):c.888C>T (p.His296=)
|
rs397517029
|
0.00008
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
NM_001006630.2(CHRM2):c.703C>A (p.Leu235Met)
|
rs138886480
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=)
|
rs367987360
|
0.00008
|
NM_001035.3(RYR2):c.9891G>A (p.Lys3297=)
|
rs368661838
|
0.00008
|
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=)
|
rs140733963
|
0.00008
|
NM_001105206.3(LAMA4):c.4305T>C (p.Asp1435=)
|
rs147800037
|
0.00008
|
NM_001134363.3(RBM20):c.3279C>T (p.Asp1093=)
|
rs1003478669
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser)
|
rs200272339
|
0.00008
|
NM_001146079.2(CLDN14):c.369C>A (p.Thr123=)
|
rs727502938
|
0.00008
|
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)
|
rs370869383
|
0.00008
|
NM_001256317.3(TMPRSS3):c.1020G>A (p.Thr340=)
|
rs374149338
|
0.00008
|
NM_001256317.3(TMPRSS3):c.1155C>T (p.Cys385=)
|
rs746293388
|
0.00008
|
NM_001267550.2(TTN):c.103524C>T (p.Val34508=)
|
rs587780985
|
0.00008
|
NM_001267550.2(TTN):c.1365G>A (p.Thr455=)
|
rs145211131
|
0.00008
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
NM_001354604.2(MITF):c.537C>T (p.Asn179=)
|
rs150591206
|
0.00008
|
NM_001370649.1(CLIC5):c.-55+49314C>T
|
rs759950763
|
0.00008
|
NM_001379180.1(ESRRB):c.177G>A (p.Ser59=)
|
rs781612689
|
0.00008
|
NM_001384140.1(PCDH15):c.92-10C>T
|
rs202223952
|
0.00008
|
NM_001614.5(ACTG1):c.669C>T (p.Phe223=)
|
rs373099591
|
0.00008
|
NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=)
|
rs782329243
|
0.00008
|
NM_002230.4(JUP):c.891C>T (p.Tyr297=)
|
rs397517302
|
0.00008
|
NM_002473.6(MYH9):c.5694C>T (p.Arg1898=)
|
rs559732738
|
0.00008
|
NM_004333.6(BRAF):c.375T>G (p.Ser125=)
|
rs201507202
|
0.00008
|
NM_004817.4(TJP2):c.2970A>G (p.Ala990=)
|
rs727503481
|
0.00008
|
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)
|
rs149432225
|
0.00008
|
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met)
|
rs186780639
|
0.00008
|
NM_006005.3(WFS1):c.2103C>T (p.Thr701=)
|
rs113800346
|
0.00008
|
NM_006941.4(SOX10):c.1125C>T (p.Thr375=)
|
rs147817756
|
0.00008
|
NM_014000.3(VCL):c.3333T>C (p.Ala1111=)
|
rs147415627
|
0.00008
|
NM_015340.4(LARS2):c.1861+7A>G
|
rs369084897
|
0.00008
|
NM_016239.4(MYO15A):c.4807C>T (p.Leu1603=)
|
rs368865502
|
0.00008
|
NM_017433.5(MYO3A):c.4846T>C (p.Ser1616Pro)
|
rs767228097
|
0.00008
|
NM_017780.4(CHD7):c.8412G>A (p.Ala2804=)
|
rs200747690
|
0.00008
|
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=)
|
rs372889781
|
0.00008
|
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=)
|
rs377156300
|
0.00008
|
NM_020297.4(ABCC9):c.3993C>T (p.His1331=)
|
rs377704379
|
0.00008
|
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)
|
rs373768157
|
0.00008
|
NM_022124.6(CDH23):c.6637G>A (p.Gly2213Ser)
|
rs375900265
|
0.00008
|
NM_022124.6(CDH23):c.856C>T (p.Leu286=)
|
rs727502918
|
0.00008
|
NM_030662.4(MAP2K2):c.258C>A (p.Val86=)
|
rs148437150
|
0.00008
|
NM_030662.4(MAP2K2):c.939G>T (p.Arg313=)
|
rs397517417
|
0.00008
|
NM_032119.4(ADGRV1):c.8265C>T (p.Ser2755=)
|
rs371820414
|
0.00008
|
NM_032119.4(ADGRV1):c.9888G>A (p.Gly3296=)
|
rs372603399
|
0.00008
|
NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala)
|
rs753618520
|
0.00008
|
NM_033337.3(CAV3):c.444G>A (p.Arg148=)
|
rs376749605
|
0.00008
|
NM_033360.4(KRAS):c.5-11A>G
|
rs369047577
|
0.00008
|
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=)
|
rs369726425
|
0.00008
|
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=)
|
rs749966154
|
0.00008
|
NM_133261.3(GIPC3):c.57G>T (p.Ala19=)
|
rs754337950
|
0.00008
|
NM_133261.3(GIPC3):c.639G>A (p.Ala213=)
|
rs371566042
|
0.00008
|
NM_138691.3(TMC1):c.2129+15T>A
|
rs747921456
|
0.00008
|
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=)
|
rs140537845
|
0.00008
|
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln)
|
rs397517883
|
0.00008
|
NM_153700.2(STRC):c.4260G>A (p.Lys1420=)
|
rs140545217
|
0.00008
|
NM_170682.4(P2RX2):c.1219G>A (p.Gly407Ser)
|
rs199712315
|
0.00008
|
NM_182548.4(LHFPL5):c.411G>A (p.Ala137=)
|
rs140326236
|
0.00008
|
NM_203447.4(DOCK8):c.3543A>G (p.Val1181=)
|
rs753242273
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys)
|
rs140548353
|
0.00008
|
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)
|
rs537863698
|
0.00008
|
NM_206965.2(FTCD):c.1098+15A>G
|
rs1060499859
|
0.00008
|
NM_213569.2(NEBL):c.204A>T (p.Thr68=)
|
rs563150056
|
0.00008
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=)
|
rs397515832
|
0.00007
|
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln)
|
rs147125175
|
0.00007
|
NM_000219.6(KCNE1):c.252C>T (p.Ser84=)
|
rs138884514
|
0.00007
|
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=)
|
rs397515955
|
0.00007
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
NM_000257.4(MYH7):c.114C>T (p.Phe38=)
|
rs146210693
|
0.00007
|
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=)
|
rs368734580
|
0.00007
|
NM_000257.4(MYH7):c.5397A>G (p.Glu1799=)
|
rs200374977
|
0.00007
|
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=)
|
rs3729831
|
0.00007
|
NM_000260.4(MYO7A):c.2625G>A (p.Ala875=)
|
rs375489617
|
0.00007
|
NM_000260.4(MYO7A):c.4650G>A (p.Pro1550=)
|
rs751242817
|
0.00007
|
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=)
|
rs778051833
|
0.00007
|
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)
|
rs199473339
|
0.00007
|
NM_000335.5(SCN5A):c.993C>T (p.Asp331=)
|
rs757715398
|
0.00007
|
NM_000363.5(TNNI3):c.246G>T (p.Pro82=)
|
rs397516343
|
0.00007
|
NM_000363.5(TNNI3):c.373-4C>G
|
rs2288530
|
0.00007
|
NM_000503.6(EYA1):c.1377T>A (p.Ala459=)
|
rs112593082
|
0.00007
|
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr)
|
rs141774517
|
0.00007
|
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)
|
rs375268778
|
0.00007
|
NM_001038603.3(MARVELD2):c.592G>A (p.Val198Met)
|
rs201914751
|
0.00007
|
NM_001105206.3(LAMA4):c.1077+8dup
|
rs397516713
|
0.00007
|
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His)
|
rs397516723
|
0.00007
|
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=)
|
rs368035633
|
0.00007
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=)
|
rs727503388
|
0.00007
|
NM_001145809.2(MYH14):c.3777C>T (p.His1259=)
|
rs371116668
|
0.00007
|
NM_001145809.2(MYH14):c.4800T>C (p.Asn1600=)
|
rs772671104
|
0.00007
|
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys)
|
rs141559449
|
0.00007
|
NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=)
|
rs397517379
|
0.00007
|
NM_001267550.2(TTN):c.102183C>T (p.Arg34061=)
|
rs727504536
|
0.00007
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
NM_001267550.2(TTN):c.43167C>T (p.Ser14389=)
|
rs375780439
|
0.00007
|
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)
|
rs374419129
|
0.00007
|
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=)
|
rs371155050
|
0.00007
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
NM_001267550.2(TTN):c.561G>A (p.Ser187=)
|
rs141444282
|
0.00007
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=)
|
rs189818369
|
0.00007
|
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=)
|
rs377109969
|
0.00007
|
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=)
|
rs181702963
|
0.00007
|
NM_001267550.2(TTN):c.76854A>G (p.Val25618=)
|
rs192902075
|
0.00007
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_001292063.2(OTOG):c.3264C>T (p.His1088=)
|
rs776482697
|
0.00007
|
NM_001384474.1(LOXHD1):c.3279C>T (p.His1093=)
|
rs751278435
|
0.00007
|
NM_001384474.1(LOXHD1):c.3846C>T (p.Asn1282=)
|
rs759329010
|
0.00007
|
NM_001384474.1(LOXHD1):c.4842C>T (p.Thr1614=)
|
rs779714173
|
0.00007
|
NM_001384474.1(LOXHD1):c.6084C>T (p.Gly2028=)
|
rs779218726
|
0.00007
|
NM_001614.5(ACTG1):c.168C>T (p.Asp56=)
|
rs368299537
|
0.00007
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala)
|
rs754354210
|
0.00007
|
NM_002473.6(MYH9):c.5151-4G>A
|
rs368125656
|
0.00007
|
NM_002880.4(RAF1):c.1515T>C (p.Pro505=)
|
rs140668986
|
0.00007
|
NM_002906.4(RDX):c.906A>G (p.Val302=)
|
rs375582413
|
0.00007
|
NM_004415.4(DSP):c.1839C>T (p.Thr613=)
|
rs397516921
|
0.00007
|
NM_004415.4(DSP):c.7563T>C (p.Asp2521=)
|
rs984412074
|
0.00007
|
NM_004517.4(ILK):c.252G>A (p.Gln84=)
|
rs757818130
|
0.00007
|
NM_004817.4(TJP2):c.3407+3A>G
|
rs727505291
|
0.00007
|
NM_005159.5(ACTC1):c.465G>A (p.Leu155=)
|
rs397517062
|
0.00007
|
NM_005422.4(TECTA):c.2184C>T (p.Ser728=)
|
rs148638616
|
0.00007
|
NM_005422.4(TECTA):c.696T>C (p.Asn232=)
|
rs149758927
|
0.00007
|
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=)
|
rs727505181
|
0.00007
|
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu)
|
rs373669861
|
0.00007
|
NM_006941.4(SOX10):c.1245G>A (p.Ser415=)
|
rs200970285
|
0.00007
|
NM_015404.4(WHRN):c.1716C>T (p.Thr572=)
|
rs760471578
|
0.00007
|
NM_016599.5(MYOZ2):c.245A>C (p.Asn82Thr)
|
rs149125238
|
0.00007
|
NM_017433.5(MYO3A):c.3027C>T (p.Ser1009=)
|
rs141341808
|
0.00007
|
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=)
|
rs748644473
|
0.00007
|
NM_021116.4(ADCY1):c.1983+10T>A
|
rs12721475
|
0.00007
|
NM_022114.4(PRDM16):c.1839C>T (p.Thr613=)
|
rs549179676
|
0.00007
|
NM_022114.4(PRDM16):c.3135G>A (p.Thr1045=)
|
rs761078027
|
0.00007
|
NM_022124.6(CDH23):c.1068C>T (p.Ala356=)
|
rs141247813
|
0.00007
|
NM_022124.6(CDH23):c.1449+100A>C
|
rs758005146
|
0.00007
|
NM_022124.6(CDH23):c.996G>A (p.Thr332=)
|
rs727504715
|
0.00007
|
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr)
|
rs199689484
|
0.00007
|
NM_024915.4(GRHL2):c.816A>G (p.Lys272=)
|
rs760857170
|
0.00007
|
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=)
|
rs182626712
|
0.00007
|
NM_032119.4(ADGRV1):c.13185C>T (p.Asn4395=)
|
rs371623591
|
0.00007
|
NM_032119.4(ADGRV1):c.453+8C>T
|
rs768784430
|
0.00007
|
NM_032229.3(SLITRK6):c.1029T>C (p.Leu343=)
|
rs200156618
|
0.00007
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00007
|
NM_057176.3(BSND):c.225A>G (p.Pro75=)
|
rs755110588
|
0.00007
|
NM_080680.3(COL11A2):c.106C>T (p.Arg36Trp)
|
rs118097056
|
0.00007
|
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)
|
rs147576338
|
0.00007
|
NM_133379.5(TTN):c.11253A>G (p.Arg3751=)
|
rs374616494
|
0.00007
|
NM_133379.5(TTN):c.16602G>A (p.Gln5534=)
|
rs141624211
|
0.00007
|
NM_138691.3(TMC1):c.1263A>G (p.Pro421=)
|
rs139985214
|
0.00007
|
NM_147196.3(TMIE):c.174C>T (p.His58=)
|
rs373379198
|
0.00007
|
NM_153676.4(USH1C):c.2004C>A (p.Pro668=)
|
rs201586291
|
0.00007
|
NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln)
|
rs374696855
|
0.00007
|
NM_178335.3(CCDC50):c.113-4C>G
|
rs145892736
|
0.00007
|
NM_194248.3(OTOF):c.1569C>T (p.Asp523=)
|
rs111440869
|
0.00007
|
NM_194248.3(OTOF):c.5159C>T (p.Thr1720Met)
|
rs375712326
|
0.00007
|
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His)
|
rs140845899
|
0.00007
|
NM_000062.3(SERPING1):c.279G>A (p.Glu93=)
|
rs778803626
|
0.00006
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000218.3(KCNQ1):c.1514+7G>T
|
rs372593469
|
0.00006
|
NM_000218.3(KCNQ1):c.1795-4G>A
|
rs769865006
|
0.00006
|
NM_000218.3(KCNQ1):c.225T>C (p.Val75=)
|
rs367817352
|
0.00006
|
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)
|
rs727504769
|
0.00006
|
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=)
|
rs377579620
|
0.00006
|
NM_000256.3(MYBPC3):c.1335G>A (p.Thr445=)
|
rs727503205
|
0.00006
|
NM_000256.3(MYBPC3):c.1815C>T (p.Asp605=)
|
rs768380030
|
0.00006
|
NM_000256.3(MYBPC3):c.2310C>T (p.Asp770=)
|
rs397515959
|
0.00006
|
NM_000256.3(MYBPC3):c.654+12G>A
|
rs397516065
|
0.00006
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
NM_000257.4(MYH7):c.115G>A (p.Val39Met)
|
rs376160714
|
0.00006
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
NM_000257.4(MYH7):c.1888+8G>T
|
rs200668471
|
0.00006
|
NM_000257.4(MYH7):c.2922G>A (p.Lys974=)
|
rs147727900
|
0.00006
|
NM_000257.4(MYH7):c.4053G>A (p.Thr1351=)
|
rs397516200
|
0.00006
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
NM_000257.4(MYH7):c.474C>T (p.Ser158=)
|
rs200444892
|
0.00006
|
NM_000257.4(MYH7):c.5559+8G>A
|
rs377473156
|
0.00006
|
NM_000258.3(MYL3):c.420C>T (p.Phe140=)
|
rs201138698
|
0.00006
|
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=)
|
rs370305347
|
0.00006
|
NM_000260.4(MYO7A):c.3503+9C>T
|
rs1481745974
|
0.00006
|
NM_000260.4(MYO7A):c.4254C>T (p.Pro1418=)
|
rs548434591
|
0.00006
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
0.00006
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=)
|
rs375254452
|
0.00006
|
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
|
rs397517923
|
0.00006
|
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
|
rs200511789
|
0.00006
|
NM_000441.2(SLC26A4):c.1470C>T (p.Ile490=)
|
rs140918297
|
0.00006
|
NM_000503.6(EYA1):c.121G>A (p.Glu41Lys)
|
rs561111097
|
0.00006
|
NM_000542.5(SFTPB):c.357C>T (p.Tyr119=)
|
rs368293273
|
0.00006
|
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile)
|
rs147075806
|
0.00006
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
NM_001018005.2(TPM1):c.27G>A (p.Gln9=)
|
rs397516365
|
0.00006
|
NM_001018008.2(TPM1):c.695G>A (p.Arg232His)
|
rs730881128
|
0.00006
|
NM_001035.3(RYR2):c.13206C>T (p.Leu4402=)
|
rs397516509
|
0.00006
|
NM_001035.3(RYR2):c.1518C>T (p.His506=)
|
rs372620246
|
0.00006
|
NM_001035.3(RYR2):c.1612+13A>G
|
rs368200572
|
0.00006
|
NM_001035.3(RYR2):c.6166+8G>A
|
rs373112536
|
0.00006
|
NM_001035.3(RYR2):c.7494G>A (p.Ala2498=)
|
rs533068485
|
0.00006
|
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)
|
rs370740528
|
0.00006
|
NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=)
|
rs181575833
|
0.00006
|
NM_001038603.3(MARVELD2):c.60C>T (p.Asp20=)
|
rs1264640823
|
0.00006
|
NM_001039141.3(TRIOBP):c.5949C>T (p.Ser1983=)
|
rs746538137
|
0.00006
|
NM_001039141.3(TRIOBP):c.6324+236G>A
|
rs140572991
|
0.00006
|
NM_001039141.3(TRIOBP):c.6325-10C>T
|
rs727503527
|
0.00006
|
NM_001039213.4(CEACAM16):c.1045G>A (p.Ala349Thr)
|
rs187740201
|
0.00006
|
NM_001039213.4(CEACAM16):c.546C>T (p.Asp182=)
|
rs747829770
|
0.00006
|
NM_001042492.3(NF1):c.6375G>A (p.Leu2125=)
|
rs773467465
|
0.00006
|
NM_001042545.2(LTBP4):c.3975G>A (p.Ala1325=)
|
rs375560922
|
0.00006
|
NM_001103.4(ACTN2):c.1698C>T (p.Pro566=)
|
rs148961019
|
0.00006
|
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=)
|
rs137890030
|
0.00006
|
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=)
|
rs149554430
|
0.00006
|
NM_001103.4(ACTN2):c.354C>T (p.Gly118=)
|
rs539250948
|
0.00006
|
NM_001105206.3(LAMA4):c.1189+8T>C
|
rs377133875
|
0.00006
|
NM_001105206.3(LAMA4):c.1353C>T (p.Tyr451=)
|
rs782546070
|
0.00006
|
NM_001105206.3(LAMA4):c.228G>A (p.Ser76=)
|
rs200589775
|
0.00006
|
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr)
|
rs144123257
|
0.00006
|
NM_001105206.3(LAMA4):c.279C>T (p.Asp93=)
|
rs397516726
|
0.00006
|
NM_001105206.3(LAMA4):c.2940A>C (p.Thr980=)
|
rs397516727
|
0.00006
|
NM_001105206.3(LAMA4):c.3897A>G (p.Lys1299=)
|
rs876657482
|
0.00006
|
NM_001105206.3(LAMA4):c.967-13C>T
|
rs782148493
|
0.00006
|
NM_001128840.3(CACNA1D):c.1749C>T (p.Phe583=)
|
rs565265907
|
0.00006
|
NM_001128840.3(CACNA1D):c.4926G>A (p.Ala1642=)
|
rs568306347
|
0.00006
|
NM_001128840.3(CACNA1D):c.5643C>T (p.Pro1881=)
|
rs189057793
|
0.00006
|
NM_001134363.3(RBM20):c.348C>T (p.Ala116=)
|
rs569709951
|
0.00006
|
NM_001134363.3(RBM20):c.774G>A (p.Ser258=)
|
rs569846404
|
0.00006
|
NM_001145809.2(MYH14):c.2334C>A (p.Leu778=)
|
rs190941610
|
0.00006
|
NM_001145809.2(MYH14):c.5128-12C>T
|
rs372261958
|
0.00006
|
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=)
|
rs745405784
|
0.00006
|
NM_001199799.2(ILDR1):c.660C>T (p.His220=)
|
rs759965447
|
0.00006
|
NM_001199799.2(ILDR1):c.801C>G (p.Leu267=)
|
rs149548365
|
0.00006
|
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)
|
rs72554056
|
0.00006
|
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)
|
rs199696688
|
0.00006
|
NM_001256317.3(TMPRSS3):c.1053C>T (p.Asp351=)
|
rs397517369
|
0.00006
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
NM_001267550.2(TTN):c.12558A>G (p.Pro4186=)
|
rs72648921
|
0.00006
|
NM_001267550.2(TTN):c.18231C>T (p.Thr6077=)
|
rs377639910
|
0.00006
|
NM_001267550.2(TTN):c.21545G>A (p.Arg7182Gln)
|
rs200447686
|
0.00006
|
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)
|
rs368151971
|
0.00006
|
NM_001267550.2(TTN):c.27015T>C (p.Gly9005=)
|
rs727503643
|
0.00006
|
NM_001267550.2(TTN):c.33173-4G>A
|
rs727504440
|
0.00006
|
NM_001267550.2(TTN):c.45083-12C>T
|
rs377143579
|
0.00006
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
NM_001267550.2(TTN):c.53002+10G>A
|
rs370352450
|
0.00006
|
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)
|
rs767152563
|
0.00006
|
NM_001267550.2(TTN):c.60471C>T (p.Ala20157=)
|
rs397517645
|
0.00006
|
NM_001267550.2(TTN):c.64860G>A (p.Arg21620=)
|
rs373713828
|
0.00006
|
NM_001267550.2(TTN):c.65379C>T (p.Phe21793=)
|
rs377017745
|
0.00006
|
NM_001267550.2(TTN):c.66160+15C>T
|
rs377288086
|
0.00006
|
NM_001267550.2(TTN):c.66480G>A (p.Pro22160=)
|
rs372814670
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)
|
rs727503575
|
0.00006
|
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)
|
rs397517684
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu)
|
rs200406978
|
0.00006
|
NM_001267550.2(TTN):c.83514C>T (p.Phe27838=)
|
rs779213695
|
0.00006
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)
|
rs561739832
|
0.00006
|
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)
|
rs2288326
|
0.00006
|
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=)
|
rs199652273
|
0.00006
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
NM_001267550.2(TTN):c.98544C>G (p.Ser32848=)
|
rs756591209
|
0.00006
|
NM_001276345.2(TNNT2):c.295-14C>T
|
rs747477576
|
0.00006
|
NM_001276345.2(TNNT2):c.90C>T (p.Asp30=)
|
rs727503515
|
0.00006
|
NM_001292063.2(OTOG):c.3360A>G (p.Leu1120=)
|
rs779322374
|
0.00006
|
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met)
|
rs758489218
|
0.00006
|
NM_001292063.2(OTOG):c.8220C>T (p.Leu2740=)
|
rs749120808
|
0.00006
|
NM_001330691.3(CEP78):c.1273G>C (p.Val425Leu)
|
rs375721961
|
0.00006
|
NM_001354604.2(MITF):c.623A>G (p.Glu208Gly)
|
rs200108255
|
0.00006
|
NM_001354604.2(MITF):c.667-7C>T
|
rs201271211
|
0.00006
|
NM_001369.3(DNAH5):c.5907T>C (p.Ala1969=)
|
rs569572855
|
0.00006
|
NM_001379180.1(ESRRB):c.483G>A (p.Pro161=)
|
rs778645048
|
0.00006
|
NM_001379180.1(ESRRB):c.924C>A (p.Gly308=)
|
rs148356050
|
0.00006
|
NM_001384474.1(LOXHD1):c.2037G>A (p.Ala679=)
|
rs201226222
|
0.00006
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=)
|
rs373657978
|
0.00006
|
NM_001384474.1(LOXHD1):c.4740+13G>T
|
rs570127242
|
0.00006
|
NM_001386795.1(DTNA):c.603+15T>C
|
rs367772080
|
0.00006
|
NM_001393500.2(TOMT):c.123A>G (p.Ser41=)
|
rs397516626
|
0.00006
|
NM_001614.5(ACTG1):c.267C>T (p.Thr89=)
|
rs140398667
|
0.00006
|
NM_001927.4(DES):c.99C>T (p.Pro33=)
|
rs774006810
|
0.00006
|
NM_001943.5(DSG2):c.2085G>A (p.Thr695=)
|
rs554396523
|
0.00006
|
NM_002109.6(HARS1):c.1312-8C>T
|
rs772505507
|
0.00006
|
NM_002230.4(JUP):c.762C>T (p.Leu254=)
|
rs781805854
|
0.00006
|
NM_002458.3(MUC5B):c.200-12C>T
|
rs776408111
|
0.00006
|
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met)
|
rs375819633
|
0.00006
|
NM_002471.4(MYH6):c.4525+13T>C
|
rs397516770
|
0.00006
|
NM_002471.4(MYH6):c.800-5C>T
|
rs727505228
|
0.00006
|
NM_002473.6(MYH9):c.2839-6C>T
|
rs774361853
|
0.00006
|
NM_002473.6(MYH9):c.4203C>T (p.His1401=)
|
rs539186034
|
0.00006
|
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=)
|
rs149271663
|
0.00006
|
NM_002473.6(MYH9):c.4653C>T (p.Thr1551=)
|
rs375806364
|
0.00006
|
NM_002473.6(MYH9):c.5130C>T (p.Ile1710=)
|
rs150198935
|
0.00006
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
NM_002880.4(RAF1):c.66T>G (p.Phe22Leu)
|
rs397516824
|
0.00006
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00006
|
NM_003803.4(MYOM1):c.2350G>A (p.Glu784Lys)
|
rs368949465
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004086.3(COCH):c.1221T>C (p.Ala407=)
|
rs199608109
|
0.00006
|
NM_004281.4(BAG3):c.1422C>T (p.Ala474=)
|
rs727505000
|
0.00006
|
NM_004333.6(BRAF):c.1084C>A (p.Arg362=)
|
rs397516885
|
0.00006
|
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly)
|
rs397516906
|
0.00006
|
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)
|
rs149773722
|
0.00006
|
NM_004415.4(DSP):c.8268A>C (p.Ile2756=)
|
rs397516963
|
0.00006
|
NM_004568.6(SERPINB6):c.1092C>A (p.Thr364=)
|
rs182270252
|
0.00006
|
NM_004568.6(SERPINB6):c.379G>A (p.Val127Ile)
|
rs146252067
|
0.00006
|
NM_004985.5(KRAS):c.451-5560T>A
|
rs373169526
|
0.00006
|
NM_004999.4(MYO6):c.3537C>T (p.Ala1179=)
|
rs371212410
|
0.00006
|
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe)
|
rs2227986
|
0.00006
|
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=)
|
rs200506473
|
0.00006
|
NM_005379.4(MYO1A):c.771G>A (p.Ser257=)
|
rs201705384
|
0.00006
|
NM_005422.4(TECTA):c.4044C>T (p.Tyr1348=)
|
rs758718634
|
0.00006
|
NM_005422.4(TECTA):c.5304G>A (p.Ala1768=)
|
rs373055342
|
0.00006
|
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met)
|
rs372282487
|
0.00006
|
NM_006005.3(WFS1):c.1392C>T (p.Thr464=)
|
rs565697340
|
0.00006
|
NM_006005.3(WFS1):c.1479C>T (p.Val493=)
|
rs750126396
|
0.00006
|
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr)
|
rs571946670
|
0.00006
|
NM_006393.3(NEBL):c.1272A>G (p.Gly424=)
|
rs727504866
|
0.00006
|
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu)
|
rs727503338
|
0.00006
|
NM_007078.3(LDB3):c.689+9C>T
|
rs727503124
|
0.00006
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=)
|
rs147484763
|
0.00006
|
NM_015340.4(LARS2):c.1782G>T (p.Leu594=)
|
rs145796540
|
0.00006
|
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr)
|
rs201911936
|
0.00006
|
NM_016239.4(MYO15A):c.10083-4A>C
|
rs550552225
|
0.00006
|
NM_016239.4(MYO15A):c.264G>A (p.Thr88=)
|
rs571886925
|
0.00006
|
NM_016239.4(MYO15A):c.381C>G (p.Leu127=)
|
rs199520255
|
0.00006
|
NM_016239.4(MYO15A):c.3909C>T (p.Leu1303=)
|
rs377070697
|
0.00006
|
NM_016239.4(MYO15A):c.4484C>T (p.Thr1495Met)
|
rs760534158
|
0.00006
|
NM_016366.3(CABP2):c.345C>A (p.Thr115=)
|
rs376093439
|
0.00006
|
NM_016929.5(CLIC5):c.342G>A (p.Ala114=)
|
rs149700111
|
0.00006
|
NM_017433.5(MYO3A):c.542G>A (p.Arg181His)
|
rs574220416
|
0.00006
|
NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=)
|
rs368079660
|
0.00006
|
NM_021116.4(ADCY1):c.1307+14G>A
|
rs886629273
|
0.00006
|
NM_021116.4(ADCY1):c.2133G>A (p.Ser711=)
|
rs149908239
|
0.00006
|
NM_022114.4(PRDM16):c.3366C>T (p.Asp1122=)
|
rs370195954
|
0.00006
|
NM_022114.4(PRDM16):c.822C>T (p.Gly274=)
|
rs372730781
|
0.00006
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321
|
0.00006
|
NM_022124.6(CDH23):c.6168C>T (p.Leu2056=)
|
rs371570295
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val)
|
rs3802707
|
0.00006
|
NM_023014.1(PRAMEF2):c.1233G>A (p.Thr411=)
|
rs370982921
|
0.00006
|
NM_024009.3(GJB3):c.546C>T (p.Thr182=)
|
rs370947069
|
0.00006
|
NM_024009.3(GJB3):c.99G>A (p.Val33=)
|
rs727504610
|
0.00006
|
NM_024422.6(DSC2):c.1591A>C (p.Arg531=)
|
rs727502981
|
0.00006
|
NM_024422.6(DSC2):c.2139G>A (p.Thr713=)
|
rs112532429
|
0.00006
|
NM_031475.3(ESPN):c.1080G>A (p.Thr360=)
|
rs373242735
|
0.00006
|
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser)
|
rs397517420
|
0.00006
|
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln)
|
rs534266547
|
0.00006
|
NM_032119.4(ADGRV1):c.14433G>A (p.Pro4811=)
|
rs373038870
|
0.00006
|
NM_032119.4(ADGRV1):c.18621G>A (p.Glu6207=)
|
rs543269561
|
0.00006
|
NM_032119.4(ADGRV1):c.23-13C>G
|
rs567154907
|
0.00006
|
NM_032119.4(ADGRV1):c.243A>T (p.Thr81=)
|
rs376660492
|
0.00006
|
NM_032119.4(ADGRV1):c.3885T>G (p.Gly1295=)
|
rs530678993
|
0.00006
|
NM_032119.4(ADGRV1):c.4349A>G (p.Lys1450Arg)
|
rs372188446
|
0.00006
|
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=)
|
rs767811568
|
0.00006
|
NM_033118.4(MYLK2):c.105C>T (p.Asp35=)
|
rs551492045
|
0.00006
|
NM_033118.4(MYLK2):c.1224+8A>C
|
rs375144075
|
0.00006
|
NM_033337.3(CAV3):c.39C>T (p.Ile13=)
|
rs200562715
|
0.00006
|
NM_057176.3(BSND):c.425G>A (p.Gly142Glu)
|
rs769608234
|
0.00006
|
NM_057176.3(BSND):c.842C>T (p.Ser281Leu)
|
rs781101708
|
0.00006
|
NM_080680.3(COL11A2):c.1188C>T (p.Leu396=)
|
rs532305958
|
0.00006
|
NM_080680.3(COL11A2):c.2178C>T (p.Asp726=)
|
rs138650682
|
0.00006
|
NM_133261.3(GIPC3):c.702A>G (p.Glu234=)
|
rs748059362
|
0.00006
|
NM_133261.3(GIPC3):c.706-7C>T
|
rs775627552
|
0.00006
|
NM_133379.5(TTN):c.12387G>A (p.Leu4129=)
|
rs142887857
|
0.00006
|
NM_138691.3(TMC1):c.483G>A (p.Glu161=)
|
rs375984349
|
0.00006
|
NM_144991.3(TSPEAR):c.1500C>T (p.Ser500=)
|
rs782070183
|
0.00006
|
NM_144991.3(TSPEAR):c.1754+7G>A
|
rs200711828
|
0.00006
|
NM_153676.4(USH1C):c.1211-1188G>A
|
rs199972595
|
0.00006
|
NM_153676.4(USH1C):c.2013+5T>C
|
rs371038786
|
0.00006
|
NM_153676.4(USH1C):c.2112A>G (p.Pro704=)
|
rs199532754
|
0.00006
|
NM_153676.4(USH1C):c.66G>A (p.Glu22=)
|
rs768165881
|
0.00006
|
NM_153676.4(USH1C):c.921G>A (p.Ala307=)
|
rs778447994
|
0.00006
|
NM_153700.2(STRC):c.4339G>A (p.Ala1447Thr)
|
rs140238012
|
0.00006
|
NM_170707.4(LMNA):c.1381-6C>T
|
rs371635492
|
0.00006
|
NM_170707.4(LMNA):c.1770C>T (p.Thr590=)
|
rs397517896
|
0.00006
|
NM_173477.5(USH1G):c.510C>G (p.Ala170=)
|
rs374630813
|
0.00006
|
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys)
|
rs574277214
|
0.00006
|
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp)
|
rs2272070
|
0.00006
|
NM_194248.3(OTOF):c.3480C>T (p.Ile1160=)
|
rs375349663
|
0.00006
|
NM_194248.3(OTOF):c.447G>A (p.Thr149=)
|
rs151257291
|
0.00006
|
NM_194248.3(OTOF):c.5115G>A (p.Glu1705=)
|
rs150521317
|
0.00006
|
NM_201384.3(PLEC):c.12558G>A (p.Ser4186=)
|
rs370789200
|
0.00006
|
NM_201384.3(PLEC):c.8475C>T (p.Pro2825=)
|
rs374602421
|
0.00006
|
NM_206933.4(USH2A):c.1143+12C>T
|
rs727505167
|
0.00006
|
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=)
|
rs139847770
|
0.00006
|
NM_206933.4(USH2A):c.4886-12C>T
|
rs199823130
|
0.00006
|
NM_206933.4(USH2A):c.5496G>A (p.Val1832=)
|
rs146585940
|
0.00006
|
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=)
|
rs41277216
|
0.00006
|
NM_206933.4(USH2A):c.6279T>C (p.Asp2093=)
|
rs200876799
|
0.00006
|
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=)
|
rs147615382
|
0.00006
|
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn)
|
rs972796332
|
0.00005
|
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)
|
rs181952966
|
0.00005
|
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp)
|
rs200817090
|
0.00005
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
NM_000219.6(KCNE1):c.315G>A (p.Ser105=)
|
rs563859144
|
0.00005
|
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=)
|
rs397515906
|
0.00005
|
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=)
|
rs397515932
|
0.00005
|
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=)
|
rs397515996
|
0.00005
|
NM_000257.4(MYH7):c.1251C>G (p.Val417=)
|
rs370628924
|
0.00005
|
NM_000257.4(MYH7):c.1323G>A (p.Thr441=)
|
rs397516096
|
0.00005
|
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=)
|
rs200664031
|
0.00005
|
NM_000260.4(MYO7A):c.1821G>A (p.Ser607=)
|
rs397516288
|
0.00005
|
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=)
|
rs199979876
|
0.00005
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224
|
0.00005
|
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=)
|
rs368749248
|
0.00005
|
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=)
|
rs377173580
|
0.00005
|
NM_000363.5(TNNI3):c.39C>G (p.Arg13=)
|
rs397516346
|
0.00005
|
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu)
|
rs368351103
|
0.00005
|
NM_000601.6(HGF):c.865+11G>A
|
rs761252474
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
NM_001035.3(RYR2):c.10293T>C (p.Leu3431=)
|
rs727505058
|
0.00005
|
NM_001035.3(RYR2):c.594C>T (p.Asn198=)
|
rs727504676
|
0.00005
|
NM_001039141.3(TRIOBP):c.7017C>T (p.Ile2339=)
|
rs149496377
|
0.00005
|
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr)
|
rs370890913
|
0.00005
|
NM_001080476.3(GRXCR1):c.747A>G (p.Pro249=)
|
rs369500517
|
0.00005
|
NM_001103.4(ACTN2):c.1476A>T (p.Arg492=)
|
rs397516569
|
0.00005
|
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=)
|
rs201179281
|
0.00005
|
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)
|
rs201047984
|
0.00005
|
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=)
|
rs559356437
|
0.00005
|
NM_001145809.2(MYH14):c.4377C>T (p.Ala1459=)
|
rs779641478
|
0.00005
|
NM_001195263.2(PDZD7):c.306C>T (p.Arg102=)
|
rs141305163
|
0.00005
|
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)
|
rs749163517
|
0.00005
|
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys)
|
rs746732835
|
0.00005
|
NM_001199799.2(ILDR1):c.1461G>A (p.Arg487=)
|
rs189004426
|
0.00005
|
NM_001256317.3(TMPRSS3):c.993C>T (p.Asn331=)
|
rs397517380
|
0.00005
|
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=)
|
rs727505046
|
0.00005
|
NM_001267550.2(TTN):c.100281C>T (p.Tyr33427=)
|
rs373085562
|
0.00005
|
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys)
|
rs375103237
|
0.00005
|
NM_001267550.2(TTN):c.14935+9C>T
|
rs544241749
|
0.00005
|
NM_001267550.2(TTN):c.2280C>T (p.Val760=)
|
rs727505021
|
0.00005
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)
|
rs370903846
|
0.00005
|
NM_001267550.2(TTN):c.47196G>C (p.Val15732=)
|
rs369979598
|
0.00005
|
NM_001267550.2(TTN):c.50083C>A (p.Arg16695=)
|
rs751502842
|
0.00005
|
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)
|
rs374672630
|
0.00005
|
NM_001267550.2(TTN):c.51739+14C>A
|
rs727505018
|
0.00005
|
NM_001267550.2(TTN):c.83115C>T (p.Pro27705=)
|
rs747021593
|
0.00005
|
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)
|
rs727504857
|
0.00005
|
NM_001267550.2(TTN):c.9519C>T (p.Asp3173=)
|
rs151129843
|
0.00005
|
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=)
|
rs397516474
|
0.00005
|
NM_001292063.2(OTOG):c.5467G>A (p.Gly1823Ser)
|
rs539129544
|
0.00005
|
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr)
|
rs777809121
|
0.00005
|
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe)
|
rs188793584
|
0.00005
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
NM_001384474.1(LOXHD1):c.4147A>G (p.Thr1383Ala)
|
rs1182325987
|
0.00005
|
NM_001384474.1(LOXHD1):c.4734C>T (p.Tyr1578=)
|
rs376338995
|
0.00005
|
NM_001384474.1(LOXHD1):c.6050-15C>T
|
rs397517864
|
0.00005
|
NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=)
|
rs376581983
|
0.00005
|
NM_002473.6(MYH9):c.2635A>C (p.Met879Leu)
|
rs200328859
|
0.00005
|
NM_002473.6(MYH9):c.2691C>T (p.Ala897=)
|
rs148883810
|
0.00005
|
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=)
|
rs531623930
|
0.00005
|
NM_002473.6(MYH9):c.4800C>T (p.Asp1600=)
|
rs201223994
|
0.00005
|
NM_002473.6(MYH9):c.5142C>T (p.Ser1714=)
|
rs141854577
|
0.00005
|
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr)
|
rs756195567
|
0.00005
|
NM_002755.4(MAP2K1):c.957C>T (p.Asn319=)
|
rs143019052
|
0.00005
|
NM_002764.4(PRPS1):c.864+10A>G
|
rs200767443
|
0.00005
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004333.6(BRAF):c.2196C>G (p.Ser732=)
|
rs142592480
|
0.00005
|
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)
|
rs148894066
|
0.00005
|
NM_004415.4(DSP):c.643G>A (p.Glu215Lys)
|
rs148095061
|
0.00005
|
NM_004568.6(SERPINB6):c.18A>G (p.Glu6=)
|
rs727505182
|
0.00005
|
NM_004568.6(SERPINB6):c.816G>A (p.Pro272=)
|
rs151200580
|
0.00005
|
NM_004700.4(KCNQ4):c.1263G>A (p.Pro421=)
|
rs727503105
|
0.00005
|
NM_004700.4(KCNQ4):c.315-9T>C
|
rs548061300
|
0.00005
|
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu)
|
rs369030902
|
0.00005
|
NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=)
|
rs727502960
|
0.00005
|
NM_006005.3(WFS1):c.477C>T (p.Asn159=)
|
rs753964845
|
0.00005
|
NM_006012.4(CLPP):c.153G>A (p.Thr51=)
|
rs769823589
|
0.00005
|
NM_006393.3(NEBL):c.2761+15C>T
|
rs760162209
|
0.00005
|
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu)
|
rs375306400
|
0.00005
|
NM_015404.4(WHRN):c.1677C>T (p.Asn559=)
|
rs138127153
|
0.00005
|
NM_016239.4(MYO15A):c.5301G>A (p.Ala1767=)
|
rs371647200
|
0.00005
|
NM_016239.4(MYO15A):c.5886C>T (p.Tyr1962=)
|
rs727503310
|
0.00005
|
NM_016239.4(MYO15A):c.6624G>A (p.Pro2208=)
|
rs560456552
|
0.00005
|
NM_016239.4(MYO15A):c.6864G>A (p.Ser2288=)
|
rs727503313
|
0.00005
|
NM_016239.4(MYO15A):c.9304-15C>T
|
rs753539094
|
0.00005
|
NM_020297.4(ABCC9):c.48C>T (p.Asn16=)
|
rs199631710
|
0.00005
|
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu)
|
rs371145622
|
0.00005
|
NM_022124.6(CDH23):c.5481G>T (p.Gly1827=)
|
rs375545532
|
0.00005
|
NM_024747.6(HPS6):c.455C>T (p.Ser152Leu)
|
rs369112226
|
0.00005
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00005
|
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg)
|
rs771737095
|
0.00005
|
NM_032119.4(ADGRV1):c.14532G>T (p.Leu4844=)
|
rs367716487
|
0.00005
|
NM_032119.4(ADGRV1):c.2284C>T (p.Arg762Cys)
|
rs41302842
|
0.00005
|
NM_032578.4(MYPN):c.1536C>T (p.Cys512=)
|
rs569718340
|
0.00005
|
NM_032578.4(MYPN):c.3582C>T (p.Arg1194=)
|
rs139820597
|
0.00005
|
NM_080680.3(COL11A2):c.4545G>A (p.Ser1515=)
|
rs367885056
|
0.00005
|
NM_133379.5(TTN):c.12129A>G (p.Ala4043=)
|
rs727503669
|
0.00005
|
NM_133379.5(TTN):c.15585T>C (p.Tyr5195=)
|
rs149543721
|
0.00005
|
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu)
|
rs370899710
|
0.00005
|
NM_153676.4(USH1C):c.1907G>A (p.Arg636His)
|
rs138017852
|
0.00005
|
NM_153700.2(STRC):c.4903G>T (p.Val1635Phe)
|
rs2915791
|
0.00005
|
NM_194248.3(OTOF):c.5610C>T (p.Thr1870=)
|
rs141119917
|
0.00005
|
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly)
|
rs149527139
|
0.00005
|
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg)
|
rs201864716
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_000038.6(APC):c.1242C>T (p.Arg414=)
|
rs751423790
|
0.00004
|
NM_000116.5(TAFAZZIN):c.583+10G>A
|
rs370536414
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000169.3(GLA):c.1000-14T>C
|
rs397515868
|
0.00004
|
NM_000218.3(KCNQ1):c.1033-4C>T
|
rs543599445
|
0.00004
|
NM_000256.3(MYBPC3):c.1518C>T (p.Asp506=)
|
rs397515908
|
0.00004
|
NM_000256.3(MYBPC3):c.1914C>T (p.Phe638=)
|
rs377227442
|
0.00004
|
NM_000256.3(MYBPC3):c.1968A>G (p.Pro656=)
|
rs397515940
|
0.00004
|
NM_000256.3(MYBPC3):c.2319C>T (p.Asp773=)
|
rs397515962
|
0.00004
|
NM_000256.3(MYBPC3):c.2517C>T (p.Gly839=)
|
rs370561202
|
0.00004
|
NM_000256.3(MYBPC3):c.2603-11C>T
|
rs11570105
|
0.00004
|
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=)
|
rs397515980
|
0.00004
|
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)
|
rs371061770
|
0.00004
|
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=)
|
rs371842442
|
0.00004
|
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=)
|
rs727504858
|
0.00004
|
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=)
|
rs397516064
|
0.00004
|
NM_000257.4(MYH7):c.12G>A (p.Ser4=)
|
rs45561941
|
0.00004
|
NM_000257.4(MYH7):c.1332T>C (p.Asn444=)
|
rs397516099
|
0.00004
|
NM_000257.4(MYH7):c.2637C>T (p.Ser879=)
|
rs199915408
|
0.00004
|
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg)
|
rs199577321
|
0.00004
|
NM_000257.4(MYH7):c.3771T>C (p.Asn1257=)
|
rs375219617
|
0.00004
|
NM_000257.4(MYH7):c.3993C>T (p.His1331=)
|
rs200288088
|
0.00004
|
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=)
|
rs45523835
|
0.00004
|
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=)
|
rs587781085
|
0.00004
|
NM_000257.4(MYH7):c.5115G>A (p.Glu1705=)
|
rs397516239
|
0.00004
|
NM_000258.3(MYL3):c.246G>A (p.Ala82=)
|
rs368364468
|
0.00004
|
NM_000260.4(MYO7A):c.1690+15C>T
|
rs781801012
|
0.00004
|
NM_000260.4(MYO7A):c.5748C>T (p.Phe1916=)
|
rs756514910
|
0.00004
|
NM_000260.4(MYO7A):c.6384C>T (p.Ile2128=)
|
rs748743374
|
0.00004
|
NM_000335.5(SCN5A):c.1195C>T (p.Leu399=)
|
rs369253900
|
0.00004
|
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=)
|
rs560476223
|
0.00004
|
NM_000335.5(SCN5A):c.954C>T (p.Asn318=)
|
rs372623225
|
0.00004
|
NM_000337.6(SGCD):c.393C>T (p.Ala131=)
|
rs397517922
|
0.00004
|
NM_000363.5(TNNI3):c.303C>T (p.His101=)
|
rs199539066
|
0.00004
|
NM_000363.5(TNNI3):c.372+7C>T
|
rs367809676
|
0.00004
|
NM_000363.5(TNNI3):c.6G>A (p.Ala2=)
|
rs397516361
|
0.00004
|
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=)
|
rs759047948
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000441.2(SLC26A4):c.322C>T (p.Leu108=)
|
rs374545905
|
0.00004
|
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=)
|
rs142526976
|
0.00004
|
NM_000540.3(RYR1):c.14814C>T (p.Ile4938=)
|
rs118192159
|
0.00004
|
NM_000601.6(HGF):c.2179C>T (p.Gln727Ter)
|
rs140790665
|
0.00004
|
NM_001005242.3(PKP2):c.12C>T (p.Pro4=)
|
rs397516991
|
0.00004
|
NM_001005242.3(PKP2):c.1608C>T (p.Asp536=)
|
rs397517006
|
0.00004
|
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=)
|
rs727505293
|
0.00004
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
NM_001005242.3(PKP2):c.714G>A (p.Pro238=)
|
rs727503372
|
0.00004
|
NM_001035.3(RYR2):c.11115C>T (p.Asp3705=)
|
rs752297019
|
0.00004
|
NM_001035.3(RYR2):c.11382C>T (p.Ala3794=)
|
rs760519786
|
0.00004
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00004
|
NM_001035.3(RYR2):c.294+15G>A
|
rs750047302
|
0.00004
|
NM_001035.3(RYR2):c.3423+10C>A
|
rs876657577
|
0.00004
|
NM_001035.3(RYR2):c.345C>T (p.Tyr115=)
|
rs397516525
|
0.00004
|
NM_001035.3(RYR2):c.385-14T>C
|
rs372287944
|
0.00004
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
NM_001039141.3(TRIOBP):c.*2+10G>A
|
rs727503531
|
0.00004
|
NM_001039141.3(TRIOBP):c.477G>T (p.Arg159Ser)
|
rs188030007
|
0.00004
|
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln)
|
rs200850285
|
0.00004
|
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr)
|
rs774276326
|
0.00004
|
NM_001042545.2(LTBP4):c.3066C>T (p.Cys1022=)
|
rs727503154
|
0.00004
|
NM_001089.3(ABCA3):c.4668C>T (p.Thr1556=)
|
rs727502872
|
0.00004
|
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=)
|
rs202135204
|
0.00004
|
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=)
|
rs141884271
|
0.00004
|
NM_001103.4(ACTN2):c.2445C>T (p.Ile815=)
|
rs397516575
|
0.00004
|
NM_001103.4(ACTN2):c.48G>A (p.Glu16=)
|
rs397516580
|
0.00004
|
NM_001103.4(ACTN2):c.795G>A (p.Ala265=)
|
rs757253639
|
0.00004
|
NM_001105206.3(LAMA4):c.2056+12C>T
|
rs397516722
|
0.00004
|
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr)
|
rs727503113
|
0.00004
|
NM_001110219.3(GJB6):c.117T>C (p.Ala39=)
|
rs727503070
|
0.00004
|
NM_001128228.3(TPRN):c.1986G>A (p.Pro662=)
|
rs373509671
|
0.00004
|
NM_001128840.3(CACNA1D):c.2221+14C>T
|
rs373186365
|
0.00004
|
NM_001128840.3(CACNA1D):c.2721C>T (p.Asp907=)
|
rs142208141
|
0.00004
|
NM_001128840.3(CACNA1D):c.5628C>T (p.Ile1876=)
|
rs756947491
|
0.00004
|
NM_001128840.3(CACNA1D):c.5841G>A (p.Thr1947=)
|
rs146425374
|
0.00004
|
NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=)
|
rs397516594
|
0.00004
|
NM_001134363.3(RBM20):c.363C>T (p.Asn121=)
|
rs727504930
|
0.00004
|
NM_001134363.3(RBM20):c.441C>T (p.His147=)
|
rs397516619
|
0.00004
|
NM_001145308.5(LRTOMT):c.35-4G>A
|
rs781682346
|
0.00004
|
NM_001145809.2(MYH14):c.1665C>T (p.Pro555=)
|
rs202104229
|
0.00004
|
NM_001145809.2(MYH14):c.3585G>A (p.Ala1195=)
|
rs368190437
|
0.00004
|
NM_001145809.2(MYH14):c.975C>T (p.Ala325=)
|
rs553878240
|
0.00004
|
NM_001146079.2(CLDN14):c.363C>T (p.Gly121=)
|
rs763411863
|
0.00004
|
NM_001199107.2(TBC1D24):c.1142+14G>A
|
rs745904419
|
0.00004
|
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=)
|
rs779117497
|
0.00004
|
NM_001256317.3(TMPRSS3):c.309C>T (p.Asp103=)
|
rs111033502
|
0.00004
|
NM_001256317.3(TMPRSS3):c.783C>T (p.Asp261=)
|
rs397517378
|
0.00004
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00004
|
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)
|
rs530537991
|
0.00004
|
NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser)
|
rs377296133
|
0.00004
|
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)
|
rs727503660
|
0.00004
|
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)
|
rs201046911
|
0.00004
|
NM_001267550.2(TTN):c.15978C>T (p.His5326=)
|
rs397517482
|
0.00004
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00004
|
NM_001267550.2(TTN):c.1914A>G (p.Glu638=)
|
rs727504691
|
0.00004
|
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=)
|
rs369275615
|
0.00004
|
NM_001267550.2(TTN):c.1953C>T (p.Ala651=)
|
rs778742098
|
0.00004
|
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)
|
rs727504579
|
0.00004
|
NM_001267550.2(TTN):c.21777T>A (p.Ile7259=)
|
rs727505220
|
0.00004
|
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)
|
rs191854953
|
0.00004
|
NM_001267550.2(TTN):c.24227-15C>T
|
rs397517505
|
0.00004
|
NM_001267550.2(TTN):c.26463C>T (p.Phe8821=)
|
rs551600321
|
0.00004
|
NM_001267550.2(TTN):c.2883C>T (p.Thr961=)
|
rs397517541
|
0.00004
|
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser)
|
rs368531555
|
0.00004
|
NM_001267550.2(TTN):c.30642A>G (p.Pro10214=)
|
rs397517533
|
0.00004
|
NM_001267550.2(TTN):c.32722+8C>T
|
rs765936606
|
0.00004
|
NM_001267550.2(TTN):c.34379-14T>C
|
rs727505341
|
0.00004
|
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg)
|
rs541811273
|
0.00004
|
NM_001267550.2(TTN):c.39276G>A (p.Pro13092=)
|
rs369002632
|
0.00004
|
NM_001267550.2(TTN):c.41329+9T>C
|
rs779075177
|
0.00004
|
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=)
|
rs147703145
|
0.00004
|
NM_001267550.2(TTN):c.48270C>T (p.Tyr16090=)
|
rs397517592
|
0.00004
|
NM_001267550.2(TTN):c.49008G>A (p.Val16336=)
|
rs781078888
|
0.00004
|
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=)
|
rs397517604
|
0.00004
|
NM_001267550.2(TTN):c.57112-11T>C
|
rs553667328
|
0.00004
|
NM_001267550.2(TTN):c.597A>G (p.Val199=)
|
rs144214844
|
0.00004
|
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=)
|
rs143265948
|
0.00004
|
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)
|
rs368716894
|
0.00004
|
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)
|
rs374736305
|
0.00004
|
NM_001267550.2(TTN):c.67348+11G>C
|
rs587780982
|
0.00004
|
NM_001267550.2(TTN):c.70036C>T (p.Leu23346=)
|
rs397517681
|
0.00004
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
NM_001267550.2(TTN):c.75969T>C (p.Val25323=)
|
rs368759398
|
0.00004
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)
|
rs368270588
|
0.00004
|
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu)
|
rs199670463
|
0.00004
|
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)
|
rs557628408
|
0.00004
|
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)
|
rs397517736
|
0.00004
|
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=)
|
rs376289479
|
0.00004
|
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)
|
rs727504439
|
0.00004
|
NM_001267550.2(TTN):c.91332C>T (p.Asn30444=)
|
rs397517752
|
0.00004
|
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=)
|
rs373502790
|
0.00004
|
NM_001267550.2(TTN):c.9485A>G (p.Gln3162Arg)
|
rs727503681
|
0.00004
|
NM_001267550.2(TTN):c.97464T>C (p.Ser32488=)
|
rs571147766
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001267550.2(TTN):c.99102G>C (p.Trp33034Cys)
|
rs397517778
|
0.00004
|
NM_001286445.3(RIPOR2):c.105G>A (p.Gln35=)
|
rs376465905
|
0.00004
|
NM_001292063.2(OTOG):c.1343-8C>T
|
rs876657551
|
0.00004
|
NM_001292063.2(OTOG):c.1641C>T (p.Gly547=)
|
rs535620249
|
0.00004
|
NM_001292063.2(OTOG):c.7890C>T (p.Ser2630=)
|
rs555614943
|
0.00004
|
NM_001292063.2(OTOG):c.8472T>C (p.Asp2824=)
|
rs940623349
|
0.00004
|
NM_001318895.3(FHL2):c.84C>T (p.Cys28=)
|
rs375234968
|
0.00004
|
NM_001330.5(CTF1):c.414C>A (p.Ala138=)
|
rs727505121
|
0.00004
|
NM_001330691.3(CEP78):c.2107+10C>G
|
rs374257343
|
0.00004
|
NM_001368067.1(LDB3):c.348C>T (p.Ala116=)
|
rs397516557
|
0.00004
|
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=)
|
rs201598829
|
0.00004
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)
|
rs760068474
|
0.00004
|
NM_001379180.1(ESRRB):c.1120+15G>A
|
rs754237725
|
0.00004
|
NM_001379180.1(ESRRB):c.460+4C>T
|
rs727503040
|
0.00004
|
NM_001384140.1(PCDH15):c.2811G>A (p.Pro937=)
|
rs1449039709
|
0.00004
|
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=)
|
rs755305237
|
0.00004
|
NM_001384474.1(LOXHD1):c.3061+8G>T
|
rs764128579
|
0.00004
|
NM_001384474.1(LOXHD1):c.3855C>T (p.Asp1285=)
|
rs876657496
|
0.00004
|
NM_001384474.1(LOXHD1):c.5289G>A (p.Thr1763=)
|
rs727503138
|
0.00004
|
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=)
|
rs181548456
|
0.00004
|
NM_001384474.1(LOXHD1):c.927G>T (p.Gly309=)
|
rs749677224
|
0.00004
|
NM_001614.5(ACTG1):c.255C>T (p.Ile85=)
|
rs147001458
|
0.00004
|
NM_001614.5(ACTG1):c.803-13C>T
|
rs376658586
|
0.00004
|
NM_001614.5(ACTG1):c.81C>T (p.Pro27=)
|
rs11549230
|
0.00004
|
NM_001943.5(DSG2):c.1911C>T (p.Cys637=)
|
rs201654341
|
0.00004
|
NM_002230.4(JUP):c.1914C>T (p.Asn638=)
|
rs368772249
|
0.00004
|
NM_002230.4(JUP):c.2086+14G>A
|
rs727504485
|
0.00004
|
NM_002230.4(JUP):c.945C>T (p.Leu315=)
|
rs146804895
|
0.00004
|
NM_002294.3(LAMP2):c.1093+2589C>T
|
rs377303143
|
0.00004
|
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val)
|
rs397516741
|
0.00004
|
NM_002471.4(MYH6):c.297C>T (p.Pro99=)
|
rs751088892
|
0.00004
|
NM_002471.4(MYH6):c.4125C>G (p.Thr1375=)
|
rs876657518
|
0.00004
|
NM_002473.6(MYH9):c.1686G>A (p.Leu562=)
|
rs199506577
|
0.00004
|
NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr)
|
rs532156048
|
0.00004
|
NM_002473.6(MYH9):c.3915G>A (p.Ala1305=)
|
rs183685723
|
0.00004
|
NM_002755.4(MAP2K1):c.439-8G>A
|
rs747709090
|
0.00004
|
NM_002834.5(PTPN11):c.1278C>T (p.His426=)
|
rs886038519
|
0.00004
|
NM_002834.5(PTPN11):c.1683G>A (p.Pro561=)
|
rs397516798
|
0.00004
|
NM_002880.4(RAF1):c.435G>A (p.Thr145=)
|
rs371565419
|
0.00004
|
NM_003803.4(MYOM1):c.4672T>C (p.Phe1558Leu)
|
rs187108957
|
0.00004
|
NM_004004.6(GJB2):c.78C>T (p.Thr26=)
|
rs201848820
|
0.00004
|
NM_004006.3(DMD):c.1503A>G (p.Glu501=)
|
rs770464589
|
0.00004
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
NM_004006.3(DMD):c.4234-12T>C
|
rs757851097
|
0.00004
|
NM_004086.3(COCH):c.971G>A (p.Arg324Gln)
|
rs748731866
|
0.00004
|
NM_004100.5(EYA4):c.741A>G (p.Pro247=)
|
rs752226573
|
0.00004
|
NM_004230.4(S1PR2):c.955G>A (p.Gly319Arg)
|
rs139097585
|
0.00004
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
NM_004447.6(EPS8):c.1449A>C (p.Ser483=)
|
rs140797755
|
0.00004
|
NM_004447.6(EPS8):c.646C>G (p.Pro216Ala)
|
rs201875630
|
0.00004
|
NM_004568.6(SERPINB6):c.378C>T (p.Ala126=)
|
rs752725436
|
0.00004
|
NM_004568.6(SERPINB6):c.460T>G (p.Ser154Ala)
|
rs727503416
|
0.00004
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
NM_005219.5(DIAPH1):c.2538A>G (p.Val846=)
|
rs973415272
|
0.00004
|
NM_005343.4(HRAS):c.249C>T (p.Ala83=)
|
rs111372582
|
0.00004
|
NM_005343.4(HRAS):c.363T>C (p.Ala121=)
|
rs146440188
|
0.00004
|
NM_005379.4(MYO1A):c.1333-8C>T
|
rs727505302
|
0.00004
|
NM_005379.4(MYO1A):c.1928G>A (p.Arg643Gln)
|
rs200450661
|
0.00004
|
NM_005379.4(MYO1A):c.2316C>T (p.Ala772=)
|
rs147832651
|
0.00004
|
NM_005422.4(TECTA):c.2358G>A (p.Ser786=)
|
rs145498566
|
0.00004
|
NM_005422.4(TECTA):c.240C>T (p.Ser80=)
|
rs142064539
|
0.00004
|
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val)
|
rs760917490
|
0.00004
|
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val)
|
rs71524356
|
0.00004
|
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)
|
rs377539343
|
0.00004
|
NM_006005.3(WFS1):c.2334C>T (p.Thr778=)
|
rs71526460
|
0.00004
|
NM_006005.3(WFS1):c.2355C>T (p.Ser785=)
|
rs201731358
|
0.00004
|
NM_006005.3(WFS1):c.375C>T (p.Thr125=)
|
rs762324196
|
0.00004
|
NM_006393.3(NEBL):c.1008+15G>A
|
rs375728589
|
0.00004
|
NM_006393.3(NEBL):c.2347-9C>T
|
rs750957531
|
0.00004
|
NM_006393.3(NEBL):c.2445G>A (p.Val815=)
|
rs578252294
|
0.00004
|
NM_007078.3(LDB3):c.689+15T>C
|
rs375094467
|
0.00004
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
NM_007078.3(LDB3):c.867C>T (p.Asp289=)
|
rs397517227
|
0.00004
|
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)
|
rs397517231
|
0.00004
|
NM_012208.4(HARS2):c.1077T>G (p.Ala359=)
|
rs776286420
|
0.00004
|
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)
|
rs144770680
|
0.00004
|
NM_015340.4(LARS2):c.1104C>G (p.Gly368=)
|
rs747618737
|
0.00004
|
NM_015340.4(LARS2):c.1123+8G>C
|
rs770963717
|
0.00004
|
NM_015340.4(LARS2):c.2490G>A (p.Pro830=)
|
rs374014256
|
0.00004
|
NM_015404.4(WHRN):c.1176C>T (p.Gly392=)
|
rs200276167
|
0.00004
|
NM_015404.4(WHRN):c.1417-8G>A
|
rs202228471
|
0.00004
|
NM_015404.4(WHRN):c.2073C>T (p.Ser691=)
|
rs768690928
|
0.00004
|
NM_015404.4(WHRN):c.2085G>A (p.Glu695=)
|
rs140043085
|
0.00004
|
NM_015404.4(WHRN):c.2193C>T (p.Ser731=)
|
rs147358257
|
0.00004
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00004
|
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)
|
rs397517268
|
0.00004
|
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)
|
rs764162597
|
0.00004
|
NM_016239.4(MYO15A):c.4251C>T (p.Ala1417=)
|
rs764113282
|
0.00004
|
NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=)
|
rs773598909
|
0.00004
|
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=)
|
rs370047914
|
0.00004
|
NM_016239.4(MYO15A):c.5934G>A (p.Gln1978=)
|
rs542354280
|
0.00004
|
NM_017433.5(MYO3A):c.1725C>G (p.Ser575=)
|
rs201882363
|
0.00004
|
NM_017433.5(MYO3A):c.4350T>C (p.Ile1450=)
|
rs397517294
|
0.00004
|
NM_020297.4(ABCC9):c.2157C>T (p.Leu719=)
|
rs201848437
|
0.00004
|
NM_020297.4(ABCC9):c.816+11G>A
|
rs200986421
|
0.00004
|
NM_022124.6(CDH23):c.1584C>T (p.Arg528=)
|
rs397517309
|
0.00004
|
NM_022124.6(CDH23):c.1620C>T (p.Gly540=)
|
rs374231594
|
0.00004
|
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)
|
rs397517310
|
0.00004
|
NM_022124.6(CDH23):c.4210-13C>T
|
rs377079875
|
0.00004
|
NM_022124.6(CDH23):c.5025C>T (p.Val1675=)
|
rs775157930
|
0.00004
|
NM_022124.6(CDH23):c.5919C>T (p.Pro1973=)
|
rs752519912
|
0.00004
|
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=)
|
rs397517347
|
0.00004
|
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)
|
rs537971045
|
0.00004
|
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=)
|
rs568741210
|
0.00004
|
NM_022124.6(CDH23):c.9511-7T>C
|
rs531195164
|
0.00004
|
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile)
|
rs750750518
|
0.00004
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
NM_024422.6(DSC2):c.1776G>A (p.Ala592=)
|
rs727502980
|
0.00004
|
NM_024422.6(DSC2):c.2208C>T (p.Asn736=)
|
rs727504534
|
0.00004
|
NM_024915.4(GRHL2):c.1212A>G (p.Lys404=)
|
rs202007390
|
0.00004
|
NM_024915.4(GRHL2):c.1348T>A (p.Ser450Thr)
|
rs141136371
|
0.00004
|
NM_031475.3(ESPN):c.1947G>A (p.Thr649=)
|
rs377497281
|
0.00004
|
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser)
|
rs576429729
|
0.00004
|
NM_032119.4(ADGRV1):c.1292C>T (p.Ala431Val)
|
rs111723628
|
0.00004
|
NM_032119.4(ADGRV1):c.14043+7C>T
|
rs563519322
|
0.00004
|
NM_032119.4(ADGRV1):c.14889G>A (p.Thr4963=)
|
rs370103595
|
0.00004
|
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=)
|
rs752223599
|
0.00004
|
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=)
|
rs201516498
|
0.00004
|
NM_032229.3(SLITRK6):c.663C>T (p.Ala221=)
|
rs201618207
|
0.00004
|
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His)
|
rs531222847
|
0.00004
|
NM_033056.4(PCDH15):c.4837G>A (p.Gly1613Arg)
|
rs876657563
|
0.00004
|
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn)
|
rs727503364
|
0.00004
|
NM_033118.4(MYLK2):c.417C>T (p.Ala139=)
|
rs560951755
|
0.00004
|
NM_033118.4(MYLK2):c.558G>A (p.Thr186=)
|
rs140695242
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_057176.3(BSND):c.177+7G>A
|
rs368723796
|
0.00004
|
NM_057176.3(BSND):c.315C>T (p.Ala105=)
|
rs757808729
|
0.00004
|
NM_080680.3(COL11A2):c.4026C>T (p.Gly1342=)
|
rs778423110
|
0.00004
|
NM_133261.3(GIPC3):c.213C>A (p.Ile71=)
|
rs876657467
|
0.00004
|
NM_133379.5(TTN):c.12007C>T (p.Leu4003Phe)
|
rs200550488
|
0.00004
|
NM_133379.5(TTN):c.14331G>C (p.Gly4777=)
|
rs397517813
|
0.00004
|
NM_133379.5(TTN):c.14399G>A (p.Gly4800Glu)
|
rs565140436
|
0.00004
|
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys)
|
rs776361113
|
0.00004
|
NM_144573.4(NEXN):c.1065T>C (p.Asp355=)
|
rs369897647
|
0.00004
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
NM_144672.4(OTOA):c.2133C>T (p.His711=)
|
rs201907941
|
0.00004
|
NM_144672.4(OTOA):c.645G>A (p.Val215=)
|
rs759683702
|
0.00004
|
NM_144991.3(TSPEAR):c.1856+13C>T
|
rs781882860
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_170707.4(LMNA):c.837G>A (p.Glu279=)
|
rs727505198
|
0.00004
|
NM_173477.5(USH1G):c.972T>C (p.Ser324=)
|
rs773660538
|
0.00004
|
NM_178335.3(CCDC50):c.153G>A (p.Leu51=)
|
rs201015131
|
0.00004
|
NM_194248.3(OTOF):c.1221C>T (p.Pro407=)
|
rs727504716
|
0.00004
|
NM_194248.3(OTOF):c.1317T>C (p.Asn439=)
|
rs201171459
|
0.00004
|
NM_194248.3(OTOF):c.1800G>A (p.Ser600=)
|
rs397517936
|
0.00004
|
NM_194248.3(OTOF):c.2520C>T (p.Asp840=)
|
rs147061068
|
0.00004
|
NM_194248.3(OTOF):c.2877G>A (p.Ala959=)
|
rs111033424
|
0.00004
|
NM_194248.3(OTOF):c.4185C>T (p.Ser1395=)
|
rs148819838
|
0.00004
|
NM_194248.3(OTOF):c.4500+11C>T
|
rs727503353
|
0.00004
|
NM_198253.3(TERT):c.2793C>T (p.Cys931=)
|
rs764925909
|
0.00004
|
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn)
|
rs111033515
|
0.00004
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
NM_206933.4(USH2A):c.12895A>C (p.Arg4299=)
|
rs1197075904
|
0.00004
|
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=)
|
rs200934092
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
NM_206933.4(USH2A):c.3811+10C>A
|
rs769756794
|
0.00004
|
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His)
|
rs374449657
|
0.00004
|
NM_206933.4(USH2A):c.6765C>T (p.Asp2255=)
|
rs767205760
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_000091.5(COL4A3):c.4191A>G (p.Gly1397=)
|
rs749383198
|
0.00003
|
NM_000092.5(COL4A4):c.888G>A (p.Gly296=)
|
rs746239973
|
0.00003
|
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)
|
rs397515743
|
0.00003
|
NM_000169.3(GLA):c.714T>C (p.Ser238=)
|
rs397515872
|
0.00003
|
NM_000195.5(HPS1):c.1239G>T (p.Pro413=)
|
rs777125097
|
0.00003
|
NM_000218.3(KCNQ1):c.1794+12C>G
|
rs727505084
|
0.00003
|
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=)
|
rs148566141
|
0.00003
|
NM_000219.6(KCNE1):c.297C>G (p.Val99=)
|
rs780553669
|
0.00003
|
NM_000256.3(MYBPC3):c.1308C>T (p.Cys436=)
|
rs759826878
|
0.00003
|
NM_000256.3(MYBPC3):c.1758C>T (p.Pro586=)
|
rs727505203
|
0.00003
|
NM_000256.3(MYBPC3):c.2178C>T (p.Arg726=)
|
rs370676057
|
0.00003
|
NM_000256.3(MYBPC3):c.2308+12C>T
|
rs727505335
|
0.00003
|
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=)
|
rs200372325
|
0.00003
|
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile)
|
rs542350927
|
0.00003
|
NM_000256.3(MYBPC3):c.3777G>A (p.Gln1259=)
|
rs746042492
|
0.00003
|
NM_000257.4(MYH7):c.1608G>A (p.Glu536=)
|
rs397516115
|
0.00003
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
NM_000257.4(MYH7):c.2658C>T (p.Asp886=)
|
rs765948561
|
0.00003
|
NM_000257.4(MYH7):c.3337-10G>A
|
rs397516181
|
0.00003
|
NM_000257.4(MYH7):c.3666C>T (p.Ser1222=)
|
rs397516191
|
0.00003
|
NM_000257.4(MYH7):c.5656-5C>T
|
rs200231434
|
0.00003
|
NM_000257.4(MYH7):c.733-9T>C
|
rs944780538
|
0.00003
|
NM_000257.4(MYH7):c.895+12C>T
|
rs186276057
|
0.00003
|
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=)
|
rs559209306
|
0.00003
|
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr)
|
rs201046979
|
0.00003
|
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=)
|
rs727504631
|
0.00003
|
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)
|
rs376743356
|
0.00003
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
NM_000260.4(MYO7A):c.593-4G>A
|
rs876657534
|
0.00003
|
NM_000335.5(SCN5A):c.1188C>T (p.Val396=)
|
rs749683415
|
0.00003
|
NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=)
|
rs372132916
|
0.00003
|
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)
|
rs374618872
|
0.00003
|
NM_000395.3(CSF2RB):c.1107C>G (p.Asp369Glu)
|
rs139685237
|
0.00003
|
NM_000414.4(HSD17B4):c.264T>C (p.Asp88=)
|
rs763999607
|
0.00003
|
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=)
|
rs573894071
|
0.00003
|
NM_000503.6(EYA1):c.1425C>T (p.Thr475=)
|
rs727503043
|
0.00003
|
NM_000546.6(TP53):c.903A>G (p.Pro301=)
|
rs72661120
|
0.00003
|
NM_001002295.2(GATA3):c.213G>C (p.Thr71=)
|
rs767609253
|
0.00003
|
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=)
|
rs397516984
|
0.00003
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
NM_001018005.2(TPM1):c.375-3C>T
|
rs202228866
|
0.00003
|
NM_001018005.2(TPM1):c.549T>C (p.Ala183=)
|
rs199476313
|
0.00003
|
NM_001018116.2(CAVIN4):c.84C>T (p.Asp28=)
|
rs745781742
|
0.00003
|
NM_001031679.3(MSRB3):c.198A>C (p.Gly66=)
|
rs183150969
|
0.00003
|
NM_001032283.3(TMPO):c.565+1301A>G
|
rs375249647
|
0.00003
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
NM_001035.3(RYR2):c.1477-8C>T
|
rs876657575
|
0.00003
|
NM_001035.3(RYR2):c.4410A>G (p.Gly1470=)
|
rs727503399
|
0.00003
|
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)
|
rs397516537
|
0.00003
|
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)
|
rs755520825
|
0.00003
|
NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val)
|
rs781135139
|
0.00003
|
NM_001039213.4(CEACAM16):c.1104A>G (p.Gly368=)
|
rs750455256
|
0.00003
|
NM_001042492.3(NF1):c.4362C>T (p.Leu1454=)
|
rs864622298
|
0.00003
|
NM_001042492.3(NF1):c.861C>T (p.Asp287=)
|
rs749949219
|
0.00003
|
NM_001103.4(ACTN2):c.18C>T (p.Pro6=)
|
rs368367224
|
0.00003
|
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=)
|
rs397516578
|
0.00003
|
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp)
|
rs782319667
|
0.00003
|
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr)
|
rs576711704
|
0.00003
|
NM_001127453.2(GSDME):c.687C>T (p.Asp229=)
|
rs371054976
|
0.00003
|
NM_001128840.3(CACNA1D):c.4575G>A (p.Arg1525=)
|
rs371203266
|
0.00003
|
NM_001134363.3(RBM20):c.-6C>T
|
rs397516589
|
0.00003
|
NM_001134363.3(RBM20):c.1056C>G (p.Pro352=)
|
rs397516590
|
0.00003
|
NM_001134363.3(RBM20):c.2664T>C (p.Asp888=)
|
rs397516605
|
0.00003
|
NM_001145809.2(MYH14):c.1626G>A (p.Leu542=)
|
rs727504565
|
0.00003
|
NM_001145809.2(MYH14):c.4056G>A (p.Gly1352=)
|
rs549322167
|
0.00003
|
NM_001145809.2(MYH14):c.4107C>T (p.Ser1369=)
|
rs372927021
|
0.00003
|
NM_001145809.2(MYH14):c.4539+10C>T
|
rs561531825
|
0.00003
|
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=)
|
rs575173753
|
0.00003
|
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=)
|
rs766745103
|
0.00003
|
NM_001256317.3(TMPRSS3):c.1191+11G>A
|
rs727505305
|
0.00003
|
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=)
|
rs397517790
|
0.00003
|
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=)
|
rs727504441
|
0.00003
|
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=)
|
rs375032616
|
0.00003
|
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)
|
rs751902051
|
0.00003
|
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)
|
rs397517492
|
0.00003
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)
|
rs374408615
|
0.00003
|
NM_001267550.2(TTN):c.22240+7A>C
|
rs368101794
|
0.00003
|
NM_001267550.2(TTN):c.2397G>A (p.Thr799=)
|
rs369313128
|
0.00003
|
NM_001267550.2(TTN):c.25002T>C (p.Tyr8334=)
|
rs371334680
|
0.00003
|
NM_001267550.2(TTN):c.28818C>T (p.Tyr9606=)
|
rs374117152
|
0.00003
|
NM_001267550.2(TTN):c.30129T>C (p.His10043=)
|
rs764724866
|
0.00003
|
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)
|
rs367901929
|
0.00003
|
NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val)
|
rs766003250
|
0.00003
|
NM_001267550.2(TTN):c.44281+8T>C
|
rs369121980
|
0.00003
|
NM_001267550.2(TTN):c.44592C>T (p.Val14864=)
|
rs397517578
|
0.00003
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
NM_001267550.2(TTN):c.48021C>T (p.Asp16007=)
|
rs368404578
|
0.00003
|
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)
|
rs727505248
|
0.00003
|
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile)
|
rs567781604
|
0.00003
|
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=)
|
rs368272978
|
0.00003
|
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)
|
rs200864020
|
0.00003
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
NM_001267550.2(TTN):c.60975C>T (p.Ile20325=)
|
rs727505195
|
0.00003
|
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr)
|
rs558670891
|
0.00003
|
NM_001267550.2(TTN):c.63330G>A (p.Ala21110=)
|
rs727504885
|
0.00003
|
NM_001267550.2(TTN):c.66804G>A (p.Arg22268=)
|
rs370501197
|
0.00003
|
NM_001267550.2(TTN):c.67537T>C (p.Leu22513=)
|
rs727504507
|
0.00003
|
NM_001267550.2(TTN):c.68449C>A (p.Arg22817=)
|
rs371678190
|
0.00003
|
NM_001267550.2(TTN):c.72C>G (p.Thr24=)
|
rs876657615
|
0.00003
|
NM_001267550.2(TTN):c.74112T>C (p.Ser24704=)
|
rs397517697
|
0.00003
|
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=)
|
rs754043680
|
0.00003
|
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=)
|
rs375553630
|
0.00003
|
NM_001267550.2(TTN):c.91731C>T (p.Asp30577=)
|
rs727505073
|
0.00003
|
NM_001267550.2(TTN):c.93570T>C (p.Asn31190=)
|
rs746309005
|
0.00003
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
NM_001267550.2(TTN):c.96310+11T>C
|
rs397517764
|
0.00003
|
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=)
|
rs141431591
|
0.00003
|
NM_001267550.2(TTN):c.98292A>G (p.Glu32764=)
|
rs750078230
|
0.00003
|
NM_001267550.2(TTN):c.99405C>T (p.Tyr33135=)
|
rs373722322
|
0.00003
|
NM_001276345.2(TNNT2):c.810+6C>T
|
rs727504260
|
0.00003
|
NM_001277115.2(DNAH11):c.8647G>A (p.Glu2883Lys)
|
rs752605468
|
0.00003
|
NM_001286445.3(RIPOR2):c.375G>T (p.Leu125=)
|
rs375464333
|
0.00003
|
NM_001292063.2(OTOG):c.292+15C>T
|
rs876657554
|
0.00003
|
NM_001292063.2(OTOG):c.4170G>A (p.Ser1390=)
|
rs765085598
|
0.00003
|
NM_001292063.2(OTOG):c.6219C>T (p.Pro2073=)
|
rs876657557
|
0.00003
|
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=)
|
rs200809116
|
0.00003
|
NM_001292063.2(OTOG):c.8571C>T (p.Cys2857=)
|
rs1166068398
|
0.00003
|
NM_001318895.3(FHL2):c.462T>C (p.Tyr154=)
|
rs397517960
|
0.00003
|
NM_001354604.2(MITF):c.105-12836C>T
|
rs779387274
|
0.00003
|
NM_001363118.2(SLC52A2):c.1293C>T (p.His431=)
|
rs184190914
|
0.00003
|
NM_001378454.1(ALMS1):c.11696A>G (p.Lys3899Arg)
|
rs1347288383
|
0.00003
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
NM_001384140.1(PCDH15):c.2379T>C (p.Asp793=)
|
rs148920891
|
0.00003
|
NM_001384140.1(PCDH15):c.2538C>T (p.Val846=)
|
rs727504573
|
0.00003
|
NM_001384140.1(PCDH15):c.4758G>A (p.Gln1586=)
|
rs368096085
|
0.00003
|
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=)
|
rs761010290
|
0.00003
|
NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=)
|
rs727503144
|
0.00003
|
NM_001384474.1(LOXHD1):c.3293A>G (p.Asn1098Ser)
|
rs876657494
|
0.00003
|
NM_001384474.1(LOXHD1):c.3816G>A (p.Thr1272=)
|
rs1031241585
|
0.00003
|
NM_001384474.1(LOXHD1):c.4671G>A (p.Leu1557=)
|
rs763078543
|
0.00003
|
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val)
|
rs141749060
|
0.00003
|
NM_001614.5(ACTG1):c.498C>T (p.Tyr166=)
|
rs373572370
|
0.00003
|
NM_001614.5(ACTG1):c.696C>T (p.Ser232=)
|
rs202155328
|
0.00003
|
NM_001614.5(ACTG1):c.909C>T (p.Thr303=)
|
rs187127467
|
0.00003
|
NM_001614.5(ACTG1):c.957C>T (p.Ala319=)
|
rs377745600
|
0.00003
|
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn)
|
rs370509593
|
0.00003
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
NM_002230.4(JUP):c.1218C>T (p.Asn406=)
|
rs782565128
|
0.00003
|
NM_002230.4(JUP):c.1290A>G (p.Thr430=)
|
rs897549158
|
0.00003
|
NM_002230.4(JUP):c.66C>T (p.Tyr22=)
|
rs782575179
|
0.00003
|
NM_002294.3(LAMP2):c.276C>T (p.Phe92=)
|
rs754577706
|
0.00003
|
NM_002458.3(MUC5B):c.15238G>A (p.Gly5080Ser)
|
rs200503009
|
0.00003
|
NM_002458.3(MUC5B):c.2478+8C>A
|
rs369614780
|
0.00003
|
NM_002471.4(MYH6):c.4959+12C>T
|
rs371661383
|
0.00003
|
NM_002471.4(MYH6):c.736-9C>T
|
rs748594445
|
0.00003
|
NM_002473.6(MYH9):c.2958G>C (p.Gln986His)
|
rs199520053
|
0.00003
|
NM_002473.6(MYH9):c.4558-13C>T
|
rs727504948
|
0.00003
|
NM_002473.6(MYH9):c.468C>T (p.Thr156=)
|
rs727503293
|
0.00003
|
NM_002473.6(MYH9):c.5013C>T (p.Asn1671=)
|
rs367872152
|
0.00003
|
NM_002473.6(MYH9):c.5718G>A (p.Thr1906=)
|
rs727504711
|
0.00003
|
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)
|
rs374061873
|
0.00003
|
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=)
|
rs147489724
|
0.00003
|
NM_002880.4(RAF1):c.1108+15C>T
|
rs727503383
|
0.00003
|
NM_002880.4(RAF1):c.63G>A (p.Val21=)
|
rs377377296
|
0.00003
|
NM_002906.4(RDX):c.1413T>C (p.Pro471=)
|
rs751528863
|
0.00003
|
NM_003019.5(SFTPD):c.158G>A (p.Arg53Gln)
|
rs142564545
|
0.00003
|
NM_003280.3(TNNC1):c.24+13G>T
|
rs748590123
|
0.00003
|
NM_003803.4(MYOM1):c.2598G>A (p.Pro866=)
|
rs778413922
|
0.00003
|
NM_004004.6(GJB2):c.21G>A (p.Gln7=)
|
rs137932057
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004006.3(DMD):c.1332-11C>T
|
rs370927319
|
0.00003
|
NM_004100.5(EYA4):c.1437G>A (p.Arg479=)
|
rs142263016
|
0.00003
|
NM_004281.4(BAG3):c.114C>T (p.Phe38=)
|
rs727504929
|
0.00003
|
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp)
|
rs548032105
|
0.00003
|
NM_004333.6(BRAF):c.1068A>G (p.Gln356=)
|
rs143335467
|
0.00003
|
NM_004333.6(BRAF):c.1694+14G>A
|
rs184144181
|
0.00003
|
NM_004333.6(BRAF):c.2136C>T (p.Ala712=)
|
rs377165711
|
0.00003
|
NM_004333.6(BRAF):c.622A>G (p.Ile208Val)
|
rs727504571
|
0.00003
|
NM_004333.6(BRAF):c.708C>T (p.Asn236=)
|
rs138333692
|
0.00003
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
NM_004415.4(DSP):c.21C>T (p.Ser7=)
|
rs750532252
|
0.00003
|
NM_004415.4(DSP):c.3015A>G (p.Glu1005=)
|
rs397516930
|
0.00003
|
NM_004415.4(DSP):c.5154G>A (p.Leu1718=)
|
rs376620183
|
0.00003
|
NM_004568.6(SERPINB6):c.187G>A (p.Gly63Ser)
|
rs727503417
|
0.00003
|
NM_004568.6(SERPINB6):c.313-15C>T
|
rs190603417
|
0.00003
|
NM_005188.4(CBL):c.1512G>A (p.Pro504=)
|
rs758285751
|
0.00003
|
NM_005219.5(DIAPH1):c.1164-10C>T
|
rs777180488
|
0.00003
|
NM_005228.5(EGFR):c.2572C>T (p.Leu858=)
|
rs121913443
|
0.00003
|
NM_005343.4(HRAS):c.282C>T (p.His94=)
|
rs375893752
|
0.00003
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
NM_005379.4(MYO1A):c.2162G>A (p.Arg721Gln)
|
rs138855953
|
0.00003
|
NM_005422.4(TECTA):c.2445G>A (p.Thr815=)
|
rs369919747
|
0.00003
|
NM_005422.4(TECTA):c.3291C>T (p.Asp1097=)
|
rs763928462
|
0.00003
|
NM_005422.4(TECTA):c.4167C>T (p.Cys1389=)
|
rs745818507
|
0.00003
|
NM_005422.4(TECTA):c.5808C>T (p.Leu1936=)
|
rs377039794
|
0.00003
|
NM_005422.4(TECTA):c.6033C>T (p.Ile2011=)
|
rs1350403244
|
0.00003
|
NM_005548.3(KARS1):c.157G>A (p.Ala53Thr)
|
rs552944283
|
0.00003
|
NM_005548.3(KARS1):c.708G>C (p.Leu236=)
|
rs876657479
|
0.00003
|
NM_006005.3(WFS1):c.143C>T (p.Ala48Val)
|
rs397517195
|
0.00003
|
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met)
|
rs760280308
|
0.00003
|
NM_006005.3(WFS1):c.2406C>T (p.Ile802=)
|
rs201102144
|
0.00003
|
NM_006012.4(CLPP):c.306G>A (p.Gln102=)
|
rs375563974
|
0.00003
|
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala)
|
rs952211002
|
0.00003
|
NM_006393.3(NEBL):c.153+15T>G
|
rs397517204
|
0.00003
|
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu)
|
rs200756166
|
0.00003
|
NM_006912.6(RIT1):c.45C>G (p.Pro15=)
|
rs748838734
|
0.00003
|
NM_006941.4(SOX10):c.207C>T (p.Pro69=)
|
rs199963686
|
0.00003
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp)
|
rs370053420
|
0.00003
|
NM_015340.4(LARS2):c.2214+13C>G
|
rs876657487
|
0.00003
|
NM_015404.4(WHRN):c.1596C>T (p.His532=)
|
rs775240892
|
0.00003
|
NM_016203.4(PRKAG2):c.864+13C>T
|
rs727505238
|
0.00003
|
NM_016239.4(MYO15A):c.1762C>A (p.Arg588=)
|
rs774157005
|
0.00003
|
NM_016239.4(MYO15A):c.3640C>A (p.Arg1214=)
|
rs201056676
|
0.00003
|
NM_016239.4(MYO15A):c.5028A>G (p.Leu1676=)
|
rs926008291
|
0.00003
|
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp)
|
rs778098806
|
0.00003
|
NM_016239.4(MYO15A):c.9702C>T (p.Asp3234=)
|
rs768813635
|
0.00003
|
NM_016599.5(MYOZ2):c.768C>A (p.Thr256=)
|
rs727503333
|
0.00003
|
NM_017433.5(MYO3A):c.472T>C (p.Leu158=)
|
rs1412624643
|
0.00003
|
NM_017780.4(CHD7):c.6468C>T (p.Val2156=)
|
rs777858802
|
0.00003
|
NM_017950.4(CCDC40):c.677-8C>T
|
rs762961824
|
0.00003
|
NM_020297.4(ABCC9):c.1164+10G>A
|
rs876657427
|
0.00003
|
NM_020297.4(ABCC9):c.1212C>T (p.Ser404=)
|
rs376726505
|
0.00003
|
NM_020297.4(ABCC9):c.4569T>C (p.Asn1523=)
|
rs727504538
|
0.00003
|
NM_021167.5(GATAD1):c.603C>T (p.Pro201=)
|
rs150863199
|
0.00003
|
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val)
|
rs727504914
|
0.00003
|
NM_022124.6(CDH23):c.1680C>T (p.Thr560=)
|
rs780822052
|
0.00003
|
NM_022124.6(CDH23):c.1866C>T (p.Ser622=)
|
rs397517312
|
0.00003
|
NM_022124.6(CDH23):c.2790G>A (p.Pro930=)
|
rs111033528
|
0.00003
|
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)
|
rs111033490
|
0.00003
|
NM_022124.6(CDH23):c.5051G>C (p.Arg1684Pro)
|
rs111033475
|
0.00003
|
NM_022124.6(CDH23):c.5328C>T (p.Asn1776=)
|
rs371522191
|
0.00003
|
NM_022124.6(CDH23):c.535G>A (p.Ala179Thr)
|
rs371422466
|
0.00003
|
NM_022124.6(CDH23):c.5523G>A (p.Val1841=)
|
rs369513655
|
0.00003
|
NM_022124.6(CDH23):c.6949G>T (p.Ala2317Ser)
|
rs727502930
|
0.00003
|
NM_022124.6(CDH23):c.8286G>A (p.Ala2762=)
|
rs727504445
|
0.00003
|
NM_024009.3(GJB3):c.589G>A (p.Val197Ile)
|
rs376506263
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=)
|
rs374807671
|
0.00003
|
NM_030662.4(MAP2K2):c.705+10C>T
|
rs372898071
|
0.00003
|
NM_031475.3(ESPN):c.2405+12G>A
|
rs876657462
|
0.00003
|
NM_032119.4(ADGRV1):c.12148G>A (p.Asp4050Asn)
|
rs576743510
|
0.00003
|
NM_032119.4(ADGRV1):c.12721G>A (p.Ala4241Thr)
|
rs727504627
|
0.00003
|
NM_032119.4(ADGRV1):c.13287T>C (p.Tyr4429=)
|
rs372799791
|
0.00003
|
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met)
|
rs375258567
|
0.00003
|
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val)
|
rs201767389
|
0.00003
|
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile)
|
rs764987437
|
0.00003
|
NM_032229.3(SLITRK6):c.403C>T (p.Leu135=)
|
rs200025237
|
0.00003
|
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=)
|
rs144488384
|
0.00003
|
NM_032578.4(MYPN):c.3591C>A (p.Gly1197=)
|
rs876657538
|
0.00003
|
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=)
|
rs375134176
|
0.00003
|
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=)
|
rs781337825
|
0.00003
|
NM_057176.3(BSND):c.375T>C (p.Ser125=)
|
rs751676380
|
0.00003
|
NM_057176.3(BSND):c.917T>C (p.Leu306Pro)
|
rs139049536
|
0.00003
|
NM_080680.3(COL11A2):c.1716T>C (p.His572=)
|
rs533884328
|
0.00003
|
NM_080680.3(COL11A2):c.4206C>T (p.Gly1402=)
|
rs201642192
|
0.00003
|
NM_080680.3(COL11A2):c.5166G>A (p.Pro1722=)
|
rs768399249
|
0.00003
|
NM_133261.3(GIPC3):c.915C>T (p.Gly305=)
|
rs142749099
|
0.00003
|
NM_133379.5(TTN):c.14790C>G (p.Val4930=)
|
rs370038956
|
0.00003
|
NM_133379.5(TTN):c.16221G>A (p.Pro5407=)
|
rs397517819
|
0.00003
|
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys)
|
rs148443938
|
0.00003
|
NM_139276.3(STAT3):c.1366-9C>T
|
rs375054973
|
0.00003
|
NM_144498.4(OSBPL2):c.30C>T (p.Ala10=)
|
rs374275739
|
0.00003
|
NM_144672.4(OTOA):c.1353C>T (p.Gly451=)
|
rs374219815
|
0.00003
|
NM_144672.4(OTOA):c.981-125T>C
|
rs201435154
|
0.00003
|
NM_144991.3(TSPEAR):c.1338C>A (p.Gly446=)
|
rs148471285
|
0.00003
|
NM_144991.3(TSPEAR):c.271G>A (p.Val91Ile)
|
rs1555921926
|
0.00003
|
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val)
|
rs140778310
|
0.00003
|
NM_153676.4(USH1C):c.1548G>A (p.Pro516=)
|
rs780428813
|
0.00003
|
NM_153676.4(USH1C):c.1792C>T (p.Arg598Cys)
|
rs111033520
|
0.00003
|
NM_153676.4(USH1C):c.675-4G>A
|
rs550964012
|
0.00003
|
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser)
|
rs754834213
|
0.00003
|
NM_170682.4(P2RX2):c.1310G>A (p.Arg437Gln)
|
rs115260724
|
0.00003
|
NM_170707.4(LMNA):c.78C>T (p.Ile26=)
|
rs373721390
|
0.00003
|
NM_181458.4(PAX3):c.1116T>A (p.Pro372=)
|
rs770424826
|
0.00003
|
NM_194248.3(OTOF):c.100G>A (p.Val34Ile)
|
rs397517933
|
0.00003
|
NM_194248.3(OTOF):c.1071C>A (p.Ala357=)
|
rs767723798
|
0.00003
|
NM_194248.3(OTOF):c.1713G>A (p.Leu571=)
|
rs397517935
|
0.00003
|
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr)
|
rs772763082
|
0.00003
|
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=)
|
rs199854846
|
0.00003
|
NM_194248.3(OTOF):c.80-15C>T
|
rs1487527833
|
0.00003
|
NM_198253.3(TERT):c.834C>A (p.Pro278=)
|
rs375423906
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln)
|
rs372436408
|
0.00003
|
NM_206933.4(USH2A):c.5130C>T (p.Pro1710=)
|
rs747065891
|
0.00003
|
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)
|
rs370597096
|
0.00003
|
NM_206933.4(USH2A):c.627G>A (p.Lys209=)
|
rs146402815
|
0.00003
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=)
|
rs773159617
|
0.00003
|
NM_000169.3(GLA):c.320A>G (p.Gln107Arg)
|
rs727505060
|
0.00002
|
NM_000179.3(MSH6):c.354A>G (p.Thr118=)
|
rs558590898
|
0.00002
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
NM_000218.3(KCNQ1):c.507G>A (p.Thr169=)
|
rs375845797
|
0.00002
|
NM_000218.3(KCNQ1):c.948G>C (p.Gly316=)
|
rs727505231
|
0.00002
|
NM_000219.6(KCNE1):c.174C>G (p.Thr58=)
|
rs727503101
|
0.00002
|
NM_000256.3(MYBPC3):c.1290C>T (p.Asp430=)
|
rs200664621
|
0.00002
|
NM_000256.3(MYBPC3):c.1320C>T (p.Gly440=)
|
rs368192024
|
0.00002
|
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=)
|
rs727503199
|
0.00002
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=)
|
rs397515951
|
0.00002
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
NM_000256.3(MYBPC3):c.960C>T (p.Asp320=)
|
rs369900803
|
0.00002
|
NM_000257.4(MYH7):c.1518C>T (p.Ile506=)
|
rs397516108
|
0.00002
|
NM_000257.4(MYH7):c.2976G>A (p.Leu992=)
|
rs368728770
|
0.00002
|
NM_000257.4(MYH7):c.3462C>T (p.Gly1154=)
|
rs397516185
|
0.00002
|
NM_000257.4(MYH7):c.354G>A (p.Ser118=)
|
rs368925624
|
0.00002
|
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)
|
rs150552664
|
0.00002
|
NM_000257.4(MYH7):c.5286C>T (p.Ala1762=)
|
rs771432461
|
0.00002
|
NM_000257.4(MYH7):c.5559+11C>T
|
rs565014760
|
0.00002
|
NM_000257.4(MYH7):c.5559+9G>A
|
rs727503241
|
0.00002
|
NM_000260.4(MYO7A):c.3583G>A (p.Val1195Met)
|
rs781958107
|
0.00002
|
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=)
|
rs374492441
|
0.00002
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399
|
0.00002
|
NM_000260.4(MYO7A):c.4857C>T (p.Gly1619=)
|
rs749483109
|
0.00002
|
NM_000260.4(MYO7A):c.618C>T (p.Arg206=)
|
rs375851346
|
0.00002
|
NM_000260.4(MYO7A):c.6264C>T (p.His2088=)
|
rs188278264
|
0.00002
|
NM_000260.4(MYO7A):c.72C>T (p.Ile24=)
|
rs397516334
|
0.00002
|
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)
|
rs199473142
|
0.00002
|
NM_000335.5(SCN5A):c.3408C>T (p.Ser1136=)
|
rs553231555
|
0.00002
|
NM_000335.5(SCN5A):c.4209C>T (p.Asn1403=)
|
rs397517954
|
0.00002
|
NM_000335.5(SCN5A):c.4695C>G (p.Leu1565=)
|
rs727505094
|
0.00002
|
NM_000335.5(SCN5A):c.4857G>A (p.Thr1619=)
|
rs753174463
|
0.00002
|
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=)
|
rs145731678
|
0.00002
|
NM_000368.5(TSC1):c.1251A>G (p.Thr417=)
|
rs147127442
|
0.00002
|
NM_000414.4(HSD17B4):c.58+195C>T
|
rs574416522
|
0.00002
|
NM_000414.4(HSD17B4):c.714+12T>G
|
rs762828103
|
0.00002
|
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
|
rs730880940
|
0.00002
|
NM_000441.2(SLC26A4):c.2007C>T (p.Asp669=)
|
rs749013429
|
0.00002
|
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)
|
rs111033240
|
0.00002
|
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile)
|
rs727503048
|
0.00002
|
NM_000503.6(EYA1):c.966+8A>G
|
rs190039495
|
0.00002
|
NM_000548.5(TSC2):c.1785G>A (p.Gln595=)
|
rs150352976
|
0.00002
|
NM_000548.5(TSC2):c.5260-12C>T
|
rs769264472
|
0.00002
|
NM_000601.6(HGF):c.1818T>C (p.Ile606=)
|
rs762445545
|
0.00002
|
NM_001005242.3(PKP2):c.1674+15A>C
|
rs749247141
|
0.00002
|
NM_001005242.3(PKP2):c.558C>T (p.Ala186=)
|
rs184522105
|
0.00002
|
NM_001005242.3(PKP2):c.978A>G (p.Ala326=)
|
rs775137004
|
0.00002
|
NM_001018116.2(CAVIN4):c.1005C>T (p.Pro335=)
|
rs565406194
|
0.00002
|
NM_001031679.3(MSRB3):c.522C>T (p.Val174=)
|
rs370488628
|
0.00002
|
NM_001035.3(RYR2):c.12957C>T (p.Val4319=)
|
rs727504438
|
0.00002
|
NM_001035.3(RYR2):c.186C>T (p.Leu62=)
|
rs754375280
|
0.00002
|
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=)
|
rs201469656
|
0.00002
|
NM_001035.3(RYR2):c.3978C>G (p.Gly1326=)
|
rs745839967
|
0.00002
|
NM_001035.3(RYR2):c.4329G>A (p.Val1443=)
|
rs397516531
|
0.00002
|
NM_001038603.3(MARVELD2):c.331G>A (p.Asp111Asn)
|
rs397516553
|
0.00002
|
NM_001038603.3(MARVELD2):c.494A>G (p.His165Arg)
|
rs727503157
|
0.00002
|
NM_001039141.3(TRIOBP):c.5544C>T (p.Tyr1848=)
|
rs373713130
|
0.00002
|
NM_001039141.3(TRIOBP):c.6039C>G (p.Pro2013=)
|
rs876657596
|
0.00002
|
NM_001039141.3(TRIOBP):c.6324+194A>G
|
rs727503526
|
0.00002
|
NM_001039141.3(TRIOBP):c.6575+14G>A
|
rs577534147
|
0.00002
|
NM_001039141.3(TRIOBP):c.96C>T (p.Ala32=)
|
rs563986808
|
0.00002
|
NM_001039213.4(CEACAM16):c.517G>A (p.Val173Ile)
|
rs756280582
|
0.00002
|
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=)
|
rs1015435132
|
0.00002
|
NM_001103.4(ACTN2):c.1155C>T (p.Tyr385=)
|
rs532155333
|
0.00002
|
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=)
|
rs727505177
|
0.00002
|
NM_001103.4(ACTN2):c.762C>T (p.His254=)
|
rs397516584
|
0.00002
|
NM_001105206.3(LAMA4):c.1988T>C (p.Ile663Thr)
|
rs538726706
|
0.00002
|
NM_001105206.3(LAMA4):c.3357T>G (p.Pro1119=)
|
rs782316528
|
0.00002
|
NM_001105206.3(LAMA4):c.3375G>A (p.Thr1125=)
|
rs143728627
|
0.00002
|
NM_001105206.3(LAMA4):c.392C>T (p.Pro131Leu)
|
rs374273620
|
0.00002
|
NM_001105206.3(LAMA4):c.465C>T (p.Cys155=)
|
rs150354594
|
0.00002
|
NM_001122659.3(EDNRB):c.-47T>C
|
rs201336064
|
0.00002
|
NM_001122659.3(EDNRB):c.1278T>C (p.Asn426=)
|
rs747813758
|
0.00002
|
NM_001127453.2(GSDME):c.1197C>T (p.Ser399=)
|
rs778523430
|
0.00002
|
NM_001127453.2(GSDME):c.405-12T>C
|
rs202246404
|
0.00002
|
NM_001128840.3(CACNA1D):c.2172A>G (p.Ser724=)
|
rs767446461
|
0.00002
|
NM_001128840.3(CACNA1D):c.3198T>C (p.Asp1066=)
|
rs1265964727
|
0.00002
|
NM_001128840.3(CACNA1D):c.4668G>A (p.Thr1556=)
|
rs954096785
|
0.00002
|
NM_001134363.3(RBM20):c.1209C>T (p.His403=)
|
rs397516592
|
0.00002
|
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser)
|
rs1479765434
|
0.00002
|
NM_001134363.3(RBM20):c.3603C>G (p.Gly1201=)
|
rs397516617
|
0.00002
|
NM_001134363.3(RBM20):c.409C>T (p.Leu137=)
|
rs876657570
|
0.00002
|
NM_001134363.3(RBM20):c.954A>G (p.Gln318=)
|
rs766779254
|
0.00002
|
NM_001145809.2(MYH14):c.1251G>A (p.Thr417=)
|
rs759132835
|
0.00002
|
NM_001145809.2(MYH14):c.5207G>A (p.Ser1736Asn)
|
rs776401666
|
0.00002
|
NM_001145809.2(MYH14):c.5553G>A (p.Gln1851=)
|
rs748686805
|
0.00002
|
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=)
|
rs779963634
|
0.00002
|
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=)
|
rs778212970
|
0.00002
|
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=)
|
rs767766165
|
0.00002
|
NM_001199799.2(ILDR1):c.1194G>A (p.Ser398=)
|
rs139810461
|
0.00002
|
NM_001199799.2(ILDR1):c.483A>T (p.Val161=)
|
rs369002219
|
0.00002
|
NM_001267550.2(TTN):c.100047A>C (p.Thr33349=)
|
rs727504698
|
0.00002
|
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile)
|
rs727503679
|
0.00002
|
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)
|
rs727504677
|
0.00002
|
NM_001267550.2(TTN):c.102711C>T (p.Cys34237=)
|
rs568801205
|
0.00002
|
NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys)
|
rs3813249
|
0.00002
|
NM_001267550.2(TTN):c.1208G>C (p.Ser403Thr)
|
rs727505091
|
0.00002
|
NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys)
|
rs528766978
|
0.00002
|
NM_001267550.2(TTN):c.13782G>A (p.Gln4594=)
|
rs188071134
|
0.00002
|
NM_001267550.2(TTN):c.1851A>C (p.Thr617=)
|
rs727504530
|
0.00002
|
NM_001267550.2(TTN):c.18609A>G (p.Arg6203=)
|
rs777227340
|
0.00002
|
NM_001267550.2(TTN):c.19263C>T (p.Asp6421=)
|
rs552531581
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.21980C>T (p.Thr7327Met)
|
rs727504975
|
0.00002
|
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met)
|
rs371496970
|
0.00002
|
NM_001267550.2(TTN):c.24609C>T (p.Ser8203=)
|
rs397517509
|
0.00002
|
NM_001267550.2(TTN):c.25041T>C (p.Ser8347=)
|
rs397517512
|
0.00002
|
NM_001267550.2(TTN):c.30588G>A (p.Val10196=)
|
rs727504524
|
0.00002
|
NM_001267550.2(TTN):c.31533A>G (p.Glu10511=)
|
rs757499228
|
0.00002
|
NM_001267550.2(TTN):c.3577G>A (p.Val1193Met)
|
rs727503699
|
0.00002
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
NM_001267550.2(TTN):c.39504G>T (p.Val13168=)
|
rs397517558
|
0.00002
|
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)
|
rs398124450
|
0.00002
|
NM_001267550.2(TTN):c.40335C>T (p.Leu13445=)
|
rs727504696
|
0.00002
|
NM_001267550.2(TTN):c.42304G>A (p.Ala14102Thr)
|
rs72650080
|
0.00002
|
NM_001267550.2(TTN):c.46580T>A (p.Met15527Lys)
|
rs77496539
|
0.00002
|
NM_001267550.2(TTN):c.48432T>C (p.Asp16144=)
|
rs776643336
|
0.00002
|
NM_001267550.2(TTN):c.49701A>G (p.Ser16567=)
|
rs369646977
|
0.00002
|
NM_001267550.2(TTN):c.51118A>G (p.Ile17040Val)
|
rs727505039
|
0.00002
|
NM_001267550.2(TTN):c.52557C>T (p.Val17519=)
|
rs397517610
|
0.00002
|
NM_001267550.2(TTN):c.53592A>G (p.Thr17864=)
|
rs397517613
|
0.00002
|
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)
|
rs727503693
|
0.00002
|
NM_001267550.2(TTN):c.54201C>T (p.Ser18067=)
|
rs397517618
|
0.00002
|
NM_001267550.2(TTN):c.55278T>C (p.Val18426=)
|
rs368013796
|
0.00002
|
NM_001267550.2(TTN):c.58150+10T>C
|
rs397517635
|
0.00002
|
NM_001267550.2(TTN):c.58395A>G (p.Thr19465=)
|
rs375134177
|
0.00002
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
NM_001267550.2(TTN):c.63187+8G>A
|
rs727503584
|
0.00002
|
NM_001267550.2(TTN):c.63558G>A (p.Val21186=)
|
rs200261892
|
0.00002
|
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)
|
rs397517657
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.6508+15T>C
|
rs747722195
|
0.00002
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
NM_001267550.2(TTN):c.66240A>C (p.Ala22080=)
|
rs375181938
|
0.00002
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)
|
rs563233842
|
0.00002
|
NM_001267550.2(TTN):c.70686C>T (p.Ser23562=)
|
rs371481540
|
0.00002
|
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)
|
rs727503564
|
0.00002
|
NM_001267550.2(TTN):c.73146T>A (p.Thr24382=)
|
rs372092427
|
0.00002
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)
|
rs565784637
|
0.00002
|
NM_001267550.2(TTN):c.77799A>T (p.Thr25933=)
|
rs727505210
|
0.00002
|
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=)
|
rs374042845
|
0.00002
|
NM_001267550.2(TTN):c.81297T>C (p.Asp27099=)
|
rs727505134
|
0.00002
|
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile)
|
rs746222222
|
0.00002
|
NM_001267550.2(TTN):c.81858T>C (p.Val27286=)
|
rs727503558
|
0.00002
|
NM_001267550.2(TTN):c.82551C>G (p.Thr27517=)
|
rs373634657
|
0.00002
|
NM_001267550.2(TTN):c.87102T>A (p.Leu29034=)
|
rs781200259
|
0.00002
|
NM_001267550.2(TTN):c.89368G>A (p.Val29790Ile)
|
rs775906983
|
0.00002
|
NM_001267550.2(TTN):c.90405T>C (p.Asp30135=)
|
rs371945826
|
0.00002
|
NM_001267550.2(TTN):c.91+14T>C
|
rs397517777
|
0.00002
|
NM_001267550.2(TTN):c.91326A>G (p.Lys30442=)
|
rs367777281
|
0.00002
|
NM_001267550.2(TTN):c.9306-4A>G
|
rs757164431
|
0.00002
|
NM_001267550.2(TTN):c.95409C>T (p.Asn31803=)
|
rs727505040
|
0.00002
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
0.00002
|
NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp)
|
rs746861398
|
0.00002
|
NM_001363118.2(SLC52A2):c.1152C>T (p.Gly384=)
|
rs782168938
|
0.00002
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
NM_001369268.1(ACAN):c.4341G>C (p.Glu1447Asp)
|
rs201505307
|
0.00002
|
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr)
|
rs771266951
|
0.00002
|
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=)
|
rs776254949
|
0.00002
|
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=)
|
rs747570402
|
0.00002
|
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=)
|
rs574095166
|
0.00002
|
NM_001379180.1(ESRRB):c.492C>T (p.Asn164=)
|
rs370878277
|
0.00002
|
NM_001384140.1(PCDH15):c.369A>G (p.Lys123=)
|
rs1317246200
|
0.00002
|
NM_001384140.1(PCDH15):c.4672-1586T>C
|
rs572152722
|
0.00002
|
NM_001384474.1(LOXHD1):c.1089C>T (p.Val363=)
|
rs578169078
|
0.00002
|
NM_001384474.1(LOXHD1):c.1443G>A (p.Pro481=)
|
rs184747932
|
0.00002
|
NM_001384474.1(LOXHD1):c.2316C>T (p.Ile772=)
|
rs876657493
|
0.00002
|
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=)
|
rs774278587
|
0.00002
|
NM_001384474.1(LOXHD1):c.4680C>T (p.Cys1560=)
|
rs397517863
|
0.00002
|
NM_001384474.1(LOXHD1):c.5233G>A (p.Asp1745Asn)
|
rs1020724757
|
0.00002
|
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=)
|
rs374858340
|
0.00002
|
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=)
|
rs876657498
|
0.00002
|
NM_001384474.1(LOXHD1):c.6405C>T (p.Phe2135=)
|
rs916139061
|
0.00002
|
NM_001384474.1(LOXHD1):c.87G>A (p.Glu29=)
|
rs1487954570
|
0.00002
|
NM_001614.5(ACTG1):c.1110C>A (p.Val370=)
|
rs727502879
|
0.00002
|
NM_001614.5(ACTG1):c.51C>T (p.Cys17=)
|
rs201570725
|
0.00002
|
NM_001614.5(ACTG1):c.945G>A (p.Lys315=)
|
rs727502881
|
0.00002
|
NM_001943.5(DSG2):c.1914A>G (p.Gly638=)
|
rs200395484
|
0.00002
|
NM_001943.5(DSG2):c.2100C>T (p.Ser700=)
|
rs397516704
|
0.00002
|
NM_002230.4(JUP):c.351C>T (p.Ala117=)
|
rs397517300
|
0.00002
|
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg)
|
rs727504953
|
0.00002
|
NM_002458.3(MUC5B):c.14484A>G (p.Thr4828=)
|
rs199583764
|
0.00002
|
NM_002458.3(MUC5B):c.2925G>A (p.Ala975=)
|
rs551502589
|
0.00002
|
NM_002471.4(MYH6):c.2199T>C (p.Pro733=)
|
rs727505290
|
0.00002
|
NM_002471.4(MYH6):c.4470C>T (p.Tyr1490=)
|
rs727504964
|
0.00002
|
NM_002471.4(MYH6):c.5136C>T (p.Ser1712=)
|
rs397516774
|
0.00002
|
NM_002471.4(MYH6):c.5439G>A (p.Gln1813=)
|
rs200854143
|
0.00002
|
NM_002473.6(MYH9):c.1722C>T (p.Ala574=)
|
rs373381680
|
0.00002
|
NM_002473.6(MYH9):c.2316G>A (p.Glu772=)
|
rs727503290
|
0.00002
|
NM_002473.6(MYH9):c.3291C>A (p.Ala1097=)
|
rs727503287
|
0.00002
|
NM_002473.6(MYH9):c.5853G>A (p.Ala1951=)
|
rs746116612
|
0.00002
|
NM_002473.6(MYH9):c.705+9C>T
|
rs397516781
|
0.00002
|
NM_002474.3(MYH11):c.3480C>T (p.Asp1160=)
|
rs771004572
|
0.00002
|
NM_002834.5(PTPN11):c.1551G>A (p.Ala517=)
|
rs727504377
|
0.00002
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
NM_002906.4(RDX):c.1548C>T (p.Thr516=)
|
rs764664139
|
0.00002
|
NM_003476.5(CSRP3):c.252G>A (p.Thr84=)
|
rs755614464
|
0.00002
|
NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr)
|
rs755409090
|
0.00002
|
NM_003803.4(MYOM1):c.3308G>A (p.Arg1103Gln)
|
rs186972208
|
0.00002
|
NM_003803.4(MYOM1):c.93G>A (p.Arg31=)
|
rs876657536
|
0.00002
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
0.00002
|
NM_004100.5(EYA4):c.805-12T>C
|
rs375862613
|
0.00002
|
NM_004281.4(BAG3):c.705G>A (p.Ala235=)
|
rs141328836
|
0.00002
|
NM_004333.6(BRAF):c.*7T>C
|
rs727502903
|
0.00002
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
NM_004415.4(DSP):c.8394T>A (p.Thr2798=)
|
rs775346694
|
0.00002
|
NM_004568.6(SERPINB6):c.147C>T (p.Thr49=)
|
rs763576990
|
0.00002
|
NM_004985.5(KRAS):c.451-5604T>A
|
rs397517476
|
0.00002
|
NM_004999.4(MYO6):c.27G>A (p.Ala9=)
|
rs767670766
|
0.00002
|
NM_005159.5(ACTC1):c.294G>A (p.Val98=)
|
rs397517058
|
0.00002
|
NM_005159.5(ACTC1):c.903A>G (p.Leu301=)
|
rs138347995
|
0.00002
|
NM_005188.4(CBL):c.1927C>T (p.Leu643=)
|
rs139939244
|
0.00002
|
NM_005188.4(CBL):c.801C>G (p.Gly267=)
|
rs727502913
|
0.00002
|
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=)
|
rs770304914
|
0.00002
|
NM_005219.5(DIAPH1):c.783G>A (p.Lys261=)
|
rs727502962
|
0.00002
|
NM_005228.5(EGFR):c.2280C>T (p.Leu760=)
|
rs397517103
|
0.00002
|
NM_005228.5(EGFR):c.2592G>A (p.Ala864=)
|
rs397517131
|
0.00002
|
NM_005343.4(HRAS):c.358C>T (p.Leu120=)
|
rs397517139
|
0.00002
|
NM_005343.4(HRAS):c.45C>T (p.Gly15=)
|
rs727504614
|
0.00002
|
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His)
|
rs369452147
|
0.00002
|
NM_005379.4(MYO1A):c.2499G>T (p.Arg833=)
|
rs727504563
|
0.00002
|
NM_005422.4(TECTA):c.2322C>T (p.Ala774=)
|
rs200749722
|
0.00002
|
NM_005422.4(TECTA):c.585C>T (p.Gly195=)
|
rs372185673
|
0.00002
|
NM_005548.3(KARS1):c.1742A>C (p.Asn581Thr)
|
rs117561624
|
0.00002
|
NM_005633.4(SOS1):c.87+12G>T
|
rs368569135
|
0.00002
|
NM_005982.4(SIX1):c.114C>T (p.Pro38=)
|
rs752537825
|
0.00002
|
NM_006005.3(WFS1):c.1290G>A (p.Ser430=)
|
rs752100338
|
0.00002
|
NM_006005.3(WFS1):c.1935G>T (p.Leu645=)
|
rs727504912
|
0.00002
|
NM_006012.4(CLPP):c.15A>G (p.Ile5Met)
|
rs763687804
|
0.00002
|
NM_006012.4(CLPP):c.42A>C (p.Ser14=)
|
rs935069392
|
0.00002
|
NM_006941.4(SOX10):c.717C>G (p.Pro239=)
|
rs766963456
|
0.00002
|
NM_007373.4(SHOC2):c.-125C>T
|
rs188765124
|
0.00002
|
NM_013296.5(GPSM2):c.1440+15A>G
|
rs199640162
|
0.00002
|
NM_013296.5(GPSM2):c.765T>G (p.Leu255=)
|
rs778913696
|
0.00002
|
NM_014000.3(VCL):c.390+11T>G
|
rs764668318
|
0.00002
|
NM_014000.3(VCL):c.808T>C (p.Leu270=)
|
rs727505339
|
0.00002
|
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile)
|
rs370178817
|
0.00002
|
NM_016203.4(PRKAG2):c.114G>A (p.Pro38=)
|
rs397517261
|
0.00002
|
NM_016239.4(MYO15A):c.10457C>T (p.Ala3486Val)
|
rs876657525
|
0.00002
|
NM_016239.4(MYO15A):c.3585C>T (p.Val1195=)
|
rs1398856621
|
0.00002
|
NM_016239.4(MYO15A):c.5742T>C (p.Arg1914=)
|
rs778007903
|
0.00002
|
NM_016239.4(MYO15A):c.6657G>A (p.Lys2219=)
|
rs727504708
|
0.00002
|
NM_016239.4(MYO15A):c.675G>C (p.Gly225=)
|
rs763522649
|
0.00002
|
NM_016599.5(MYOZ2):c.504T>C (p.Pro168=)
|
rs769668877
|
0.00002
|
NM_016616.5(NME8):c.401C>T (p.Pro134Leu)
|
rs369201077
|
0.00002
|
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu)
|
rs147534616
|
0.00002
|
NM_020297.4(ABCC9):c.4470A>G (p.Val1490=)
|
rs727505001
|
0.00002
|
NM_020297.4(ABCC9):c.918G>A (p.Leu306=)
|
rs142115849
|
0.00002
|
NM_020458.4(TTC7A):c.1701C>T (p.His567=)
|
rs375117959
|
0.00002
|
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=)
|
rs757093442
|
0.00002
|
NM_022124.6(CDH23):c.1080G>T (p.Leu360=)
|
rs570997401
|
0.00002
|
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)
|
rs397517307
|
0.00002
|
NM_022124.6(CDH23):c.2067G>A (p.Thr689=)
|
rs876657437
|
0.00002
|
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=)
|
rs565266663
|
0.00002
|
NM_022124.6(CDH23):c.4953C>T (p.Asn1651=)
|
rs397517332
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_022124.6(CDH23):c.5214C>T (p.Asn1738=)
|
rs767794239
|
0.00002
|
NM_022124.6(CDH23):c.8040C>T (p.Asp2680=)
|
rs1379358750
|
0.00002
|
NM_022124.6(CDH23):c.9511-12C>T
|
rs397517366
|
0.00002
|
NM_022124.6(CDH23):c.9858C>T (p.His3286=)
|
rs761835004
|
0.00002
|
NM_024422.6(DSC2):c.1680G>A (p.Thr560=)
|
rs567202599
|
0.00002
|
NM_030662.4(MAP2K2):c.450+13G>A
|
rs572847821
|
0.00002
|
NM_030662.4(MAP2K2):c.450+14G>A
|
rs397517414
|
0.00002
|
NM_030662.4(MAP2K2):c.474G>A (p.Val158=)
|
rs370736371
|
0.00002
|
NM_032119.4(ADGRV1):c.13336G>A (p.Gly4446Arg)
|
rs542716344
|
0.00002
|
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile)
|
rs768299251
|
0.00002
|
NM_032119.4(ADGRV1):c.16258C>A (p.Gln5420Lys)
|
rs876657472
|
0.00002
|
NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)
|
rs727504831
|
0.00002
|
NM_032119.4(ADGRV1):c.3179C>T (p.Thr1060Met)
|
rs768978840
|
0.00002
|
NM_032119.4(ADGRV1):c.3816G>A (p.Leu1272=)
|
rs202004141
|
0.00002
|
NM_032119.4(ADGRV1):c.4965T>C (p.Pro1655=)
|
rs755711674
|
0.00002
|
NM_032119.4(ADGRV1):c.705A>G (p.Gln235=)
|
rs372853480
|
0.00002
|
NM_032119.4(ADGRV1):c.9642C>T (p.Ile3214=)
|
rs778864521
|
0.00002
|
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)
|
rs397517461
|
0.00002
|
NM_033118.4(MYLK2):c.1284C>T (p.Gly428=)
|
rs727503305
|
0.00002
|
NM_033118.4(MYLK2):c.1683G>A (p.Lys561=)
|
rs756719732
|
0.00002
|
NM_080680.3(COL11A2):c.1968C>T (p.Thr656=)
|
rs766534015
|
0.00002
|
NM_080680.3(COL11A2):c.3529-3C>T
|
rs753183777
|
0.00002
|
NM_080680.3(COL11A2):c.4751-9A>G
|
rs555680585
|
0.00002
|
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)
|
rs752823488
|
0.00002
|
NM_133379.5(TTN):c.13374T>C (p.His4458=)
|
rs397517809
|
0.00002
|
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser)
|
rs397517834
|
0.00002
|
NM_138691.3(TMC1):c.2178G>A (p.Ala726=)
|
rs555517698
|
0.00002
|
NM_138691.3(TMC1):c.342G>A (p.Glu114=)
|
rs370554600
|
0.00002
|
NM_138691.3(TMC1):c.777T>C (p.Tyr259=)
|
rs727503482
|
0.00002
|
NM_144573.4(NEXN):c.1368A>C (p.Gly456=)
|
rs397517845
|
0.00002
|
NM_144672.4(OTOA):c.987G>A (p.Gly329=)
|
rs758229970
|
0.00002
|
NM_144991.3(TSPEAR):c.942C>T (p.Tyr314=)
|
rs146600721
|
0.00002
|
NM_147196.3(TMIE):c.361+11C>T
|
rs368701214
|
0.00002
|
NM_153676.4(USH1C):c.2418C>T (p.Asn806=)
|
rs397517876
|
0.00002
|
NM_153676.4(USH1C):c.497-4G>A
|
rs397517881
|
0.00002
|
NM_153676.4(USH1C):c.760-4C>T
|
rs374167444
|
0.00002
|
NM_153700.2(STRC):c.3100-10C>T
|
rs727503450
|
0.00002
|
NM_153700.2(STRC):c.678A>T (p.Thr226=)
|
rs727503452
|
0.00002
|
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)
|
rs397517890
|
0.00002
|
NM_173477.5(USH1G):c.1152C>T (p.Asp384=)
|
rs569032124
|
0.00002
|
NM_173477.5(USH1G):c.678C>A (p.Gly226=)
|
rs201525855
|
0.00002
|
NM_178335.3(CCDC50):c.1003G>A (p.Ala335Thr)
|
rs727502917
|
0.00002
|
NM_181458.4(PAX3):c.534G>A (p.Glu178=)
|
rs569880951
|
0.00002
|
NM_194248.3(OTOF):c.1335C>T (p.Ile445=)
|
rs749521853
|
0.00002
|
NM_194248.3(OTOF):c.2010C>T (p.Asn670=)
|
rs374029967
|
0.00002
|
NM_194248.3(OTOF):c.5202G>A (p.Leu1734=)
|
rs770579181
|
0.00002
|
NM_194248.3(OTOF):c.531C>T (p.Ser177=)
|
rs765620419
|
0.00002
|
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=)
|
rs760725818
|
0.00002
|
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)
|
rs397517966
|
0.00002
|
NM_206933.4(USH2A):c.14100C>T (p.Ser4700=)
|
rs778162193
|
0.00002
|
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=)
|
rs111033532
|
0.00002
|
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=)
|
rs727505165
|
0.00002
|
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=)
|
rs181961185
|
0.00002
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000081.4(LYST):c.7761A>G (p.Gln2587=)
|
rs139917441
|
0.00001
|
NM_000116.5(TAFAZZIN):c.109+28C>T
|
rs397515736
|
0.00001
|
NM_000117.3(EMD):c.57C>T (p.Tyr19=)
|
rs371661299
|
0.00001
|
NM_000117.3(EMD):c.711C>T (p.Ile237=)
|
rs727503037
|
0.00001
|
NM_000138.5(FBN1):c.4233C>T (p.Asn1411=)
|
rs183198761
|
0.00001
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
NM_000138.5(FBN1):c.5856G>A (p.Gly1952=)
|
rs763490270
|
0.00001
|
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=)
|
rs397515843
|
0.00001
|
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)
|
rs397515869
|
0.00001
|
NM_000169.3(GLA):c.801+14C>T
|
rs200744672
|
0.00001
|
NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=)
|
rs199630316
|
0.00001
|
NM_000218.3(KCNQ1):c.1173C>T (p.Thr391=)
|
rs770808054
|
0.00001
|
NM_000218.3(KCNQ1):c.1795-5C>T
|
rs727503104
|
0.00001
|
NM_000218.3(KCNQ1):c.192T>C (p.Pro64=)
|
rs1360376744
|
0.00001
|
NM_000218.3(KCNQ1):c.604+12C>T
|
rs370821907
|
0.00001
|
NM_000249.4(MLH1):c.2034A>G (p.Lys678=)
|
rs894876691
|
0.00001
|
NM_000256.3(MYBPC3):c.1024G>A (p.Val342Ile)
|
rs397515882
|
0.00001
|
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00001
|
NM_000256.3(MYBPC3):c.1624+14G>C
|
rs397515914
|
0.00001
|
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser)
|
rs397515918
|
0.00001
|
NM_000256.3(MYBPC3):c.1803G>A (p.Leu601=)
|
rs397515927
|
0.00001
|
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=)
|
rs727503193
|
0.00001
|
NM_000256.3(MYBPC3):c.1944C>T (p.His648=)
|
rs750861887
|
0.00001
|
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln)
|
rs397515945
|
0.00001
|
NM_000256.3(MYBPC3):c.216C>A (p.Gly72=)
|
rs760007714
|
0.00001
|
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=)
|
rs397515957
|
0.00001
|
NM_000256.3(MYBPC3):c.2544G>A (p.Ala848=)
|
rs369904619
|
0.00001
|
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=)
|
rs367980215
|
0.00001
|
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr)
|
rs727504945
|
0.00001
|
NM_000256.3(MYBPC3):c.2906-7C>T
|
rs876657512
|
0.00001
|
NM_000256.3(MYBPC3):c.3048C>T (p.Gly1016=)
|
rs397515998
|
0.00001
|
NM_000256.3(MYBPC3):c.3171G>A (p.Thr1057=)
|
rs397516004
|
0.00001
|
NM_000256.3(MYBPC3):c.3477T>C (p.Phe1159=)
|
rs876657513
|
0.00001
|
NM_000256.3(MYBPC3):c.3705G>A (p.Val1235=)
|
rs397516036
|
0.00001
|
NM_000256.3(MYBPC3):c.3814+14G>A
|
rs727504656
|
0.00001
|
NM_000257.4(MYH7):c.1083C>T (p.Asn361=)
|
rs145091844
|
0.00001
|
NM_000257.4(MYH7):c.1888+13T>G
|
rs727504516
|
0.00001
|
NM_000257.4(MYH7):c.1926G>A (p.Ser642=)
|
rs397516126
|
0.00001
|
NM_000257.4(MYH7):c.2229G>A (p.Glu743=)
|
rs397516139
|
0.00001
|
NM_000257.4(MYH7):c.2352C>T (p.Ile784=)
|
rs397516143
|
0.00001
|
NM_000257.4(MYH7):c.2472C>T (p.Val824=)
|
rs397516150
|
0.00001
|
NM_000257.4(MYH7):c.2499C>T (p.Tyr833=)
|
rs397516151
|
0.00001
|
NM_000257.4(MYH7):c.2979C>T (p.Thr993=)
|
rs397516176
|
0.00001
|
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=)
|
rs148788346
|
0.00001
|
NM_000257.4(MYH7):c.4326G>A (p.Leu1442=)
|
rs727503243
|
0.00001
|
NM_000257.4(MYH7):c.4671G>A (p.Lys1557=)
|
rs200601164
|
0.00001
|
NM_000257.4(MYH7):c.4725G>A (p.Lys1575=)
|
rs45476496
|
0.00001
|
NM_000257.4(MYH7):c.4803G>A (p.Leu1601=)
|
rs397516228
|
0.00001
|
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=)
|
rs151113658
|
0.00001
|
NM_000257.4(MYH7):c.5019C>T (p.Ile1673=)
|
rs139518691
|
0.00001
|
NM_000257.4(MYH7):c.5703C>T (p.His1901=)
|
rs45570635
|
0.00001
|
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=)
|
rs397516257
|
0.00001
|
NM_000260.4(MYO7A):c.1455G>A (p.Leu485=)
|
rs375528761
|
0.00001
|
NM_000260.4(MYO7A):c.1555-15C>T
|
rs782573211
|
0.00001
|
NM_000260.4(MYO7A):c.1797+8G>A
|
rs781801358
|
0.00001
|
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=)
|
rs367693437
|
0.00001
|
NM_000260.4(MYO7A):c.2094+8G>A
|
rs781886473
|
0.00001
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=)
|
rs970183279
|
0.00001
|
NM_000260.4(MYO7A):c.285+14C>G
|
rs876657532
|
0.00001
|
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=)
|
rs397516297
|
0.00001
|
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=)
|
rs77299211
|
0.00001
|
NM_000260.4(MYO7A):c.4153-10C>G
|
rs397516306
|
0.00001
|
NM_000260.4(MYO7A):c.4153-11C>T
|
rs727503330
|
0.00001
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
NM_000260.4(MYO7A):c.4695G>A (p.Thr1565=)
|
rs397516313
|
0.00001
|
NM_000260.4(MYO7A):c.4800G>T (p.Gly1600=)
|
rs397516314
|
0.00001
|
NM_000260.4(MYO7A):c.5481-15C>T
|
rs727504955
|
0.00001
|
NM_000260.4(MYO7A):c.6339C>A (p.Ala2113=)
|
rs764862807
|
0.00001
|
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=)
|
rs397516329
|
0.00001
|
NM_000307.5(POU3F4):c.285T>C (p.His95=)
|
rs1163443982
|
0.00001
|
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His)
|
rs397517951
|
0.00001
|
NM_000335.5(SCN5A):c.1659G>A (p.Glu553=)
|
rs727503409
|
0.00001
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
NM_000335.5(SCN5A):c.2313C>T (p.Leu771=)
|
rs876657580
|
0.00001
|
NM_000335.5(SCN5A):c.3258G>A (p.Glu1086=)
|
rs727504924
|
0.00001
|
NM_000335.5(SCN5A):c.369G>A (p.Ala123=)
|
rs727504886
|
0.00001
|
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=)
|
rs397517957
|
0.00001
|
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=)
|
rs538707712
|
0.00001
|
NM_000335.5(SCN5A):c.72C>T (p.Ile24=)
|
rs727503412
|
0.00001
|
NM_000337.6(SGCD):c.45T>A (p.Pro15=)
|
rs727505092
|
0.00001
|
NM_000363.5(TNNI3):c.258C>T (p.Ala86=)
|
rs727503508
|
0.00001
|
NM_000363.5(TNNI3):c.336C>T (p.Tyr112=)
|
rs559450042
|
0.00001
|
NM_000363.5(TNNI3):c.384G>A (p.Leu128=)
|
rs373130533
|
0.00001
|
NM_000371.4(TTR):c.337-13T>C
|
rs762691667
|
0.00001
|
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)
|
rs758045328
|
0.00001
|
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=)
|
rs745478996
|
0.00001
|
NM_000414.4(HSD17B4):c.56C>G (p.Ala19Gly)
|
rs148363262
|
0.00001
|
NM_000414.4(HSD17B4):c.622+14C>T
|
rs765736425
|
0.00001
|
NM_000432.4(MYL2):c.447C>T (p.Asn149=)
|
rs397516405
|
0.00001
|
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)
|
rs727504993
|
0.00001
|
NM_000441.2(SLC26A4):c.1299C>T (p.Ile433=)
|
rs397516415
|
0.00001
|
NM_000441.2(SLC26A4):c.1342-10C>T
|
rs727503426
|
0.00001
|
NM_000441.2(SLC26A4):c.1608C>T (p.Tyr536=)
|
rs181882513
|
0.00001
|
NM_000441.2(SLC26A4):c.1871T>C (p.Leu624Pro)
|
rs1345776426
|
0.00001
|
NM_000441.2(SLC26A4):c.2320-4A>C
|
rs727503432
|
0.00001
|
NM_000441.2(SLC26A4):c.297G>A (p.Thr99=)
|
rs397516429
|
0.00001
|
NM_000441.2(SLC26A4):c.948A>C (p.Gly316=)
|
rs876657583
|
0.00001
|
NM_000501.4(ELN):c.1233C>T (p.Val411=)
|
rs202052596
|
0.00001
|
NM_000503.6(EYA1):c.1464C>T (p.Leu488=)
|
rs770264648
|
0.00001
|
NM_000546.6(TP53):c.885T>C (p.Pro295=)
|
rs200073907
|
0.00001
|
NM_000899.5(KITLG):c.255G>C (p.Leu85=)
|
rs767292529
|
0.00001
|
NM_000899.5(KITLG):c.708C>T (p.Tyr236=)
|
rs200147285
|
0.00001
|
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)
|
rs535581825
|
0.00001
|
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr)
|
rs200095747
|
0.00001
|
NM_001018005.2(TPM1):c.241-9T>C
|
rs377417143
|
0.00001
|
NM_001018005.2(TPM1):c.252C>T (p.Asp84=)
|
rs369617788
|
0.00001
|
NM_001018005.2(TPM1):c.444G>C (p.Leu148=)
|
rs376518788
|
0.00001
|
NM_001018005.2(TPM1):c.684T>C (p.Leu228=)
|
rs397516384
|
0.00001
|
NM_001018005.2(TPM1):c.768A>G (p.Leu256=)
|
rs139650306
|
0.00001
|
NM_001018005.2(TPM1):c.837C>T (p.Asn279=)
|
rs397516393
|
0.00001
|
NM_001032283.3(TMPO):c.565+1907A>G
|
rs372248802
|
0.00001
|
NM_001035.3(RYR2):c.10047G>A (p.Ser3349=)
|
rs144428932
|
0.00001
|
NM_001035.3(RYR2):c.1077A>G (p.Ser359=)
|
rs727505317
|
0.00001
|
NM_001035.3(RYR2):c.11039+13G>T
|
rs727504882
|
0.00001
|
NM_001035.3(RYR2):c.11326-4A>G
|
rs727504876
|
0.00001
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
NM_001035.3(RYR2):c.13656T>C (p.His4552=)
|
rs397516512
|
0.00001
|
NM_001035.3(RYR2):c.14415A>G (p.Lys4805=)
|
rs397516515
|
0.00001
|
NM_001035.3(RYR2):c.2562A>G (p.Thr854=)
|
rs727503398
|
0.00001
|
NM_001035.3(RYR2):c.2719-4T>A
|
rs397516523
|
0.00001
|
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)
|
rs397516526
|
0.00001
|
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=)
|
rs190884873
|
0.00001
|
NM_001035.3(RYR2):c.4209A>G (p.Ala1403=)
|
rs727505126
|
0.00001
|
NM_001035.3(RYR2):c.5136C>T (p.Ser1712=)
|
rs397516540
|
0.00001
|
NM_001035.3(RYR2):c.7359A>G (p.Glu2453=)
|
rs779456443
|
0.00001
|
NM_001035.3(RYR2):c.8714+13A>G
|
rs876657579
|
0.00001
|
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)
|
rs762521873
|
0.00001
|
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met)
|
rs727503158
|
0.00001
|
NM_001038603.3(MARVELD2):c.1095A>G (p.Leu365=)
|
rs727503159
|
0.00001
|
NM_001038603.3(MARVELD2):c.1479G>A (p.Leu493=)
|
rs752765358
|
0.00001
|
NM_001038603.3(MARVELD2):c.771C>T (p.Leu257=)
|
rs571015098
|
0.00001
|
NM_001039141.3(TRIOBP):c.273A>G (p.Ala91=)
|
rs876657592
|
0.00001
|
NM_001039141.3(TRIOBP):c.4135C>T (p.Pro1379Ser)
|
rs727505118
|
0.00001
|
NM_001039141.3(TRIOBP):c.4429T>C (p.Trp1477Arg)
|
rs756650521
|
0.00001
|
NM_001039141.3(TRIOBP):c.4548T>C (p.Pro1516=)
|
rs770934306
|
0.00001
|
NM_001039141.3(TRIOBP):c.4773C>T (p.Ala1591=)
|
rs876657594
|
0.00001
|
NM_001039141.3(TRIOBP):c.5247A>G (p.Ser1749=)
|
rs1172498750
|
0.00001
|
NM_001039141.3(TRIOBP):c.5349A>T (p.Gly1783=)
|
rs201691906
|
0.00001
|
NM_001039141.3(TRIOBP):c.5393C>T (p.Ser1798Leu)
|
rs876657595
|
0.00001
|
NM_001039141.3(TRIOBP):c.5488-14C>T
|
rs748722151
|
0.00001
|
NM_001039141.3(TRIOBP):c.6184A>G (p.Ser2062Gly)
|
rs727503525
|
0.00001
|
NM_001039141.3(TRIOBP):c.6324+233C>G
|
rs757097829
|
0.00001
|
NM_001039141.3(TRIOBP):c.6986G>A (p.Ser2329Asn)
|
rs876657597
|
0.00001
|
NM_001039213.4(CEACAM16):c.359G>C (p.Gly120Ala)
|
rs979461820
|
0.00001
|
NM_001042492.3(NF1):c.2061A>G (p.Leu687=)
|
rs143671377
|
0.00001
|
NM_001042492.3(NF1):c.2619T>C (p.Arg873=)
|
rs766212733
|
0.00001
|
NM_001042492.3(NF1):c.3732T>A (p.Val1244=)
|
rs756653022
|
0.00001
|
NM_001042492.3(NF1):c.4944C>T (p.Thr1648=)
|
rs759291615
|
0.00001
|
NM_001042492.3(NF1):c.5229T>C (p.Ala1743=)
|
rs876657546
|
0.00001
|
NM_001042545.2(LTBP4):c.2989G>A (p.Val997Met)
|
rs748078658
|
0.00001
|
NM_001042545.2(LTBP4):c.3258C>T (p.Pro1086=)
|
rs727503155
|
0.00001
|
NM_001042702.5(PJVK):c.102A>T (p.Leu34=)
|
rs1376281701
|
0.00001
|
NM_001042702.5(PJVK):c.407+15C>G
|
rs727502959
|
0.00001
|
NM_001042702.5(PJVK):c.669C>T (p.Asp223=)
|
rs774085388
|
0.00001
|
NM_001042702.5(PJVK):c.841C>T (p.Pro281Ser)
|
rs377275979
|
0.00001
|
NM_001079668.3(NKX2-1):c.201G>C (p.Pro67=)
|
rs747491554
|
0.00001
|
NM_001079866.2(BCS1L):c.810G>A (p.Leu270=)
|
rs371242452
|
0.00001
|
NM_001080476.3(GRXCR1):c.75T>C (p.Ser25=)
|
rs876657475
|
0.00001
|
NM_001080476.3(GRXCR1):c.813C>A (p.Ala271=)
|
rs727503090
|
0.00001
|
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=)
|
rs397516562
|
0.00001
|
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=)
|
rs12043223
|
0.00001
|
NM_001103.4(ACTN2):c.1338G>A (p.Ala446=)
|
rs397516566
|
0.00001
|
NM_001103.4(ACTN2):c.1422C>T (p.His474=)
|
rs1282303942
|
0.00001
|
NM_001103.4(ACTN2):c.2484C>T (p.Ala828=)
|
rs397516576
|
0.00001
|
NM_001103.4(ACTN2):c.753C>T (p.Cys251=)
|
rs397516583
|
0.00001
|
NM_001105206.3(LAMA4):c.1209C>T (p.Leu403=)
|
rs397516715
|
0.00001
|
NM_001105206.3(LAMA4):c.2577G>A (p.Thr859=)
|
rs397516724
|
0.00001
|
NM_001105206.3(LAMA4):c.267C>T (p.Asn89=)
|
rs727503114
|
0.00001
|
NM_001105206.3(LAMA4):c.3003C>T (p.Gly1001=)
|
rs397516728
|
0.00001
|
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn)
|
rs781919095
|
0.00001
|
NM_001105206.3(LAMA4):c.486T>C (p.Ala162=)
|
rs397516734
|
0.00001
|
NM_001105206.3(LAMA4):c.5241G>A (p.Val1747=)
|
rs375447272
|
0.00001
|
NM_001105206.3(LAMA4):c.90C>T (p.Asn30=)
|
rs542554847
|
0.00001
|
NM_001122659.3(EDNRB):c.1194+15C>T
|
rs886050325
|
0.00001
|
NM_001122659.3(EDNRB):c.186G>A (p.Leu62=)
|
rs62637639
|
0.00001
|
NM_001127453.2(GSDME):c.1218T>C (p.Thr406=)
|
rs727505338
|
0.00001
|
NM_001127453.2(GSDME):c.826T>C (p.Ser276Pro)
|
rs727502954
|
0.00001
|
NM_001127453.2(GSDME):c.969A>G (p.Leu323=)
|
rs397516911
|
0.00001
|
NM_001128228.3(TPRN):c.1944T>G (p.Ser648=)
|
rs757430065
|
0.00001
|
NM_001128228.3(TPRN):c.1996G>A (p.Val666Met)
|
rs876657591
|
0.00001
|
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu)
|
rs727503520
|
0.00001
|
NM_001128840.3(CACNA1D):c.2661C>T (p.Ile887=)
|
rs1457329674
|
0.00001
|
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu)
|
rs770886605
|
0.00001
|
NM_001128840.3(CACNA1D):c.6193-4A>G
|
rs756630418
|
0.00001
|
NM_001128840.3(CACNA1D):c.6204C>T (p.Ser2068=)
|
rs777264885
|
0.00001
|
NM_001128840.3(CACNA1D):c.6414C>T (p.Ser2138=)
|
rs748761511
|
0.00001
|
NM_001128840.3(CACNA1D):c.649T>C (p.Leu217=)
|
rs1263485007
|
0.00001
|
NM_001134363.3(RBM20):c.1080A>T (p.Thr360=)
|
rs397516591
|
0.00001
|
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln)
|
rs563500712
|
0.00001
|
NM_001134363.3(RBM20):c.1761C>T (p.Leu587=)
|
rs727504820
|
0.00001
|
NM_001134363.3(RBM20):c.1812G>A (p.Lys604=)
|
rs751318089
|
0.00001
|
NM_001134363.3(RBM20):c.2070G>A (p.Pro690=)
|
rs890520365
|
0.00001
|
NM_001134363.3(RBM20):c.313C>T (p.Leu105=)
|
rs397516611
|
0.00001
|
NM_001134363.3(RBM20):c.3183A>G (p.Pro1061=)
|
rs397516612
|
0.00001
|
NM_001134363.3(RBM20):c.3366G>A (p.Glu1122=)
|
rs397516613
|
0.00001
|
NM_001134363.3(RBM20):c.3372T>C (p.Thr1124=)
|
rs397516614
|
0.00001
|
NM_001134363.3(RBM20):c.600T>G (p.Thr200=)
|
rs876657571
|
0.00001
|
NM_001145809.2(MYH14):c.1995G>A (p.Ser665=)
|
rs876657514
|
0.00001
|
NM_001145809.2(MYH14):c.2145C>T (p.Tyr715=)
|
rs774452001
|
0.00001
|
NM_001145809.2(MYH14):c.2733G>A (p.Val911=)
|
rs1330663203
|
0.00001
|
NM_001145809.2(MYH14):c.4138-4A>G
|
rs373533012
|
0.00001
|
NM_001145809.2(MYH14):c.534C>T (p.Thr178=)
|
rs727503221
|
0.00001
|
NM_001146079.2(CLDN14):c.495C>T (p.Tyr165=)
|
rs373672296
|
0.00001
|
NM_001199107.2(TBC1D24):c.1545G>A (p.Ala515=)
|
rs747350771
|
0.00001
|
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=)
|
rs759193465
|
0.00001
|
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=)
|
rs369318229
|
0.00001
|
NM_001199799.2(ILDR1):c.1600-13T>C
|
rs567262350
|
0.00001
|
NM_001199799.2(ILDR1):c.25C>T (p.Pro9Ser)
|
rs1217446345
|
0.00001
|
NM_001232.4(CASQ2):c.1026C>T (p.Val342=)
|
rs774882087
|
0.00001
|
NM_001232.4(CASQ2):c.333A>G (p.Glu111=)
|
rs727502910
|
0.00001
|
NM_001243133.2(NLRP3):c.2811C>T (p.Pro937=)
|
rs545121784
|
0.00001
|
NM_001267550.2(TTN):c.100653C>A (p.Gly33551=)
|
rs727505326
|
0.00001
|
NM_001267550.2(TTN):c.103632G>A (p.Glu34544=)
|
rs1285886003
|
0.00001
|
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)
|
rs574420969
|
0.00001
|
NM_001267550.2(TTN):c.105531G>A (p.Val35177=)
|
rs727505323
|
0.00001
|
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg)
|
rs727504465
|
0.00001
|
NM_001267550.2(TTN):c.11502G>A (p.Gly3834=)
|
rs777420658
|
0.00001
|
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=)
|
rs565546452
|
0.00001
|
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)
|
rs373963067
|
0.00001
|
NM_001267550.2(TTN):c.18456T>C (p.His6152=)
|
rs756540833
|
0.00001
|
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)
|
rs727504776
|
0.00001
|
NM_001267550.2(TTN):c.2082C>T (p.Asp694=)
|
rs534874686
|
0.00001
|
NM_001267550.2(TTN):c.20892G>A (p.Thr6964=)
|
rs727504623
|
0.00001
|
NM_001267550.2(TTN):c.21279A>G (p.Thr7093=)
|
rs727504765
|
0.00001
|
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr)
|
rs370728359
|
0.00001
|
NM_001267550.2(TTN):c.22569T>C (p.Ser7523=)
|
rs761651834
|
0.00001
|
NM_001267550.2(TTN):c.22842A>G (p.Leu7614=)
|
rs727504963
|
0.00001
|
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=)
|
rs753546095
|
0.00001
|
NM_001267550.2(TTN):c.24546T>A (p.Val8182=)
|
rs397517508
|
0.00001
|
NM_001267550.2(TTN):c.26067C>T (p.Tyr8689=)
|
rs377125716
|
0.00001
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00001
|
NM_001267550.2(TTN):c.26916C>T (p.Tyr8972=)
|
rs762329439
|
0.00001
|
NM_001267550.2(TTN):c.27618T>C (p.Tyr9206=)
|
rs1457644440
|
0.00001
|
NM_001267550.2(TTN):c.27711C>T (p.Ser9237=)
|
rs727504749
|
0.00001
|
NM_001267550.2(TTN):c.2807T>C (p.Val936Ala)
|
rs139567470
|
0.00001
|
NM_001267550.2(TTN):c.28425G>T (p.Val9475=)
|
rs727503642
|
0.00001
|
NM_001267550.2(TTN):c.28509A>G (p.Val9503=)
|
rs756229382
|
0.00001
|
NM_001267550.2(TTN):c.28653G>C (p.Leu9551=)
|
rs876657601
|
0.00001
|
NM_001267550.2(TTN):c.28710T>C (p.Asn9570=)
|
rs727504991
|
0.00001
|
NM_001267550.2(TTN):c.29815G>C (p.Glu9939Gln)
|
rs727503638
|
0.00001
|
NM_001267550.2(TTN):c.30022A>G (p.Met10008Val)
|
rs1553877757
|
0.00001
|
NM_001267550.2(TTN):c.31426+11T>C
|
rs901251232
|
0.00001
|
NM_001267550.2(TTN):c.31791T>G (p.Pro10597=)
|
rs397517539
|
0.00001
|
NM_001267550.2(TTN):c.3201T>C (p.Thr1067=)
|
rs876657603
|
0.00001
|
NM_001267550.2(TTN):c.33762A>G (p.Lys11254=)
|
rs749466171
|
0.00001
|
NM_001267550.2(TTN):c.34038T>G (p.Pro11346=)
|
rs375714279
|
0.00001
|
NM_001267550.2(TTN):c.34734A>G (p.Val11578=)
|
rs866407525
|
0.00001
|
NM_001267550.2(TTN):c.39296-4A>G
|
rs368641171
|
0.00001
|
NM_001267550.2(TTN):c.39300C>T (p.Phe13100=)
|
rs569579388
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.41490C>T (p.Val13830=)
|
rs397517564
|
0.00001
|
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val)
|
rs545806408
|
0.00001
|
NM_001267550.2(TTN):c.4452T>C (p.Pro1484=)
|
rs727503695
|
0.00001
|
NM_001267550.2(TTN):c.45003C>T (p.Asn15001=)
|
rs727505079
|
0.00001
|
NM_001267550.2(TTN):c.45895+10T>A
|
rs373140286
|
0.00001
|
NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile)
|
rs727504878
|
0.00001
|
NM_001267550.2(TTN):c.49532+8C>T
|
rs397517597
|
0.00001
|
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=)
|
rs397517598
|
0.00001
|
NM_001267550.2(TTN):c.50244C>T (p.Thr16748=)
|
rs778337707
|
0.00001
|
NM_001267550.2(TTN):c.50769A>G (p.Glu16923=)
|
rs373524326
|
0.00001
|
NM_001267550.2(TTN):c.52098G>A (p.Val17366=)
|
rs727503617
|
0.00001
|
NM_001267550.2(TTN):c.53002+9C>T
|
rs374671774
|
0.00001
|
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=)
|
rs373277508
|
0.00001
|
NM_001267550.2(TTN):c.54324T>C (p.Ser18108=)
|
rs397517619
|
0.00001
|
NM_001267550.2(TTN):c.57933T>C (p.Asp19311=)
|
rs554555894
|
0.00001
|
NM_001267550.2(TTN):c.58074T>C (p.Arg19358=)
|
rs397517632
|
0.00001
|
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)
|
rs727504980
|
0.00001
|
NM_001267550.2(TTN):c.59685C>T (p.Tyr19895=)
|
rs397517644
|
0.00001
|
NM_001267550.2(TTN):c.60816G>A (p.Pro20272=)
|
rs727504529
|
0.00001
|
NM_001267550.2(TTN):c.61224G>A (p.Val20408=)
|
rs566188777
|
0.00001
|
NM_001267550.2(TTN):c.63114C>A (p.Val21038=)
|
rs201642579
|
0.00001
|
NM_001267550.2(TTN):c.63921G>A (p.Glu21307=)
|
rs1466883677
|
0.00001
|
NM_001267550.2(TTN):c.63981A>G (p.Val21327=)
|
rs397517656
|
0.00001
|
NM_001267550.2(TTN):c.64719C>T (p.Asp21573=)
|
rs727504967
|
0.00001
|
NM_001267550.2(TTN):c.65275+13G>T
|
rs727504999
|
0.00001
|
NM_001267550.2(TTN):c.65871G>A (p.Pro21957=)
|
rs771651842
|
0.00001
|
NM_001267550.2(TTN):c.66441C>T (p.Ala22147=)
|
rs727503578
|
0.00001
|
NM_001267550.2(TTN):c.66450T>G (p.Ala22150=)
|
rs727504643
|
0.00001
|
NM_001267550.2(TTN):c.66996T>C (p.Tyr22332=)
|
rs397517668
|
0.00001
|
NM_001267550.2(TTN):c.67681T>C (p.Leu22561=)
|
rs397517671
|
0.00001
|
NM_001267550.2(TTN):c.6790+13G>A
|
rs758773000
|
0.00001
|
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)
|
rs397517673
|
0.00001
|
NM_001267550.2(TTN):c.68196G>A (p.Ser22732=)
|
rs397517674
|
0.00001
|
NM_001267550.2(TTN):c.68712T>C (p.Thr22904=)
|
rs397517678
|
0.00001
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)
|
rs368530092
|
0.00001
|
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=)
|
rs189187431
|
0.00001
|
NM_001267550.2(TTN):c.76200T>C (p.Cys25400=)
|
rs397517705
|
0.00001
|
NM_001267550.2(TTN):c.79122A>G (p.Glu26374=)
|
rs727504497
|
0.00001
|
NM_001267550.2(TTN):c.79518T>C (p.Leu26506=)
|
rs367608273
|
0.00001
|
NM_001267550.2(TTN):c.8292G>A (p.Leu2764=)
|
rs727503687
|
0.00001
|
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)
|
rs773001228
|
0.00001
|
NM_001267550.2(TTN):c.86139C>T (p.Ser28713=)
|
rs750163793
|
0.00001
|
NM_001267550.2(TTN):c.86934C>T (p.Val28978=)
|
rs531340219
|
0.00001
|
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)
|
rs369444690
|
0.00001
|
NM_001267550.2(TTN):c.87663T>C (p.Ser29221=)
|
rs397517737
|
0.00001
|
NM_001267550.2(TTN):c.87765T>C (p.Thr29255=)
|
rs397517738
|
0.00001
|
NM_001267550.2(TTN):c.88307-15C>T
|
rs727505307
|
0.00001
|
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)
|
rs371678936
|
0.00001
|
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile)
|
rs727505024
|
0.00001
|
NM_001267550.2(TTN):c.91339T>C (p.Leu30447=)
|
rs397517753
|
0.00001
|
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)
|
rs727504528
|
0.00001
|
NM_001267550.2(TTN):c.94020A>G (p.Glu31340=)
|
rs547439339
|
0.00001
|
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys)
|
rs727503682
|
0.00001
|
NM_001267550.2(TTN):c.95652C>T (p.Thr31884=)
|
rs397517762
|
0.00001
|
NM_001267550.2(TTN):c.96315T>G (p.Thr32105=)
|
rs727503540
|
0.00001
|
NM_001267550.2(TTN):c.96904+8C>T
|
rs528358945
|
0.00001
|
NM_001267550.2(TTN):c.96978G>A (p.Leu32326=)
|
rs397517765
|
0.00001
|
NM_001267550.2(TTN):c.97488C>T (p.Ser32496=)
|
rs727504527
|
0.00001
|
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys)
|
rs761050391
|
0.00001
|
NM_001267550.2(TTN):c.98034T>C (p.Cys32678=)
|
rs727504928
|
0.00001
|
NM_001267550.2(TTN):c.9870T>C (p.Asp3290=)
|
rs727503680
|
0.00001
|
NM_001267550.2(TTN):c.9988+9G>A
|
rs397517801
|
0.00001
|
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)
|
rs746492909
|
0.00001
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
NM_001277115.2(DNAH11):c.990C>T (p.Leu330=)
|
rs376448045
|
0.00001
|
NM_001286445.3(RIPOR2):c.1245G>T (p.Leu415=)
|
rs1406684216
|
0.00001
|
NM_001292063.2(OTOG):c.1125C>G (p.Thr375=)
|
rs897534989
|
0.00001
|
NM_001292063.2(OTOG):c.2625C>G (p.Gly875=)
|
rs876657552
|
0.00001
|
NM_001292063.2(OTOG):c.3078G>A (p.Arg1026=)
|
rs1244694943
|
0.00001
|
NM_001292063.2(OTOG):c.3177C>T (p.Val1059=)
|
rs184126223
|
0.00001
|
NM_001292063.2(OTOG):c.3183A>C (p.Thr1061=)
|
rs780180476
|
0.00001
|
NM_001292063.2(OTOG):c.3398C>T (p.Ala1133Val)
|
rs768393908
|
0.00001
|
NM_001292063.2(OTOG):c.4247G>A (p.Arg1416Gln)
|
rs147318012
|
0.00001
|
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly)
|
rs876657555
|
0.00001
|
NM_001292063.2(OTOG):c.5979G>A (p.Ser1993=)
|
rs925237259
|
0.00001
|
NM_001292063.2(OTOG):c.7048G>A (p.Glu2350Lys)
|
rs375080152
|
0.00001
|
NM_001292063.2(OTOG):c.7422C>T (p.Phe2474=)
|
rs983539027
|
0.00001
|
NM_001292063.2(OTOG):c.7617G>T (p.Leu2539=)
|
rs908026995
|
0.00001
|
NM_001292063.2(OTOG):c.7767G>A (p.Thr2589=)
|
rs748617558
|
0.00001
|
NM_001292063.2(OTOG):c.7846C>T (p.Leu2616=)
|
rs876657558
|
0.00001
|
NM_001292063.2(OTOG):c.8247C>T (p.Asn2749=)
|
rs778915475
|
0.00001
|
NM_001292063.2(OTOG):c.8287C>T (p.Leu2763=)
|
rs1406354520
|
0.00001
|
NM_001330.5(CTF1):c.341G>A (p.Arg114His)
|
rs397516649
|
0.00001
|
NM_001330.5(CTF1):c.468C>T (p.Ala156=)
|
rs397516650
|
0.00001
|
NM_001354604.2(MITF):c.1476C>T (p.Pro492=)
|
rs745749254
|
0.00001
|
NM_001378454.1(ALMS1):c.11560G>A (p.Val3854Met)
|
rs757475077
|
0.00001
|
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe)
|
rs765461259
|
0.00001
|
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=)
|
rs377249623
|
0.00001
|
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=)
|
rs1217540541
|
0.00001
|
NM_001378609.3(OTOGL):c.2271C>T (p.Phe757=)
|
rs949936521
|
0.00001
|
NM_001378609.3(OTOGL):c.3450+9A>G
|
rs576035717
|
0.00001
|
NM_001378609.3(OTOGL):c.3804A>G (p.Ser1268=)
|
rs183046919
|
0.00001
|
NM_001378609.3(OTOGL):c.4764G>A (p.Lys1588=)
|
rs774916755
|
0.00001
|
NM_001378609.3(OTOGL):c.5095G>A (p.Gly1699Ser)
|
rs563989349
|
0.00001
|
NM_001378609.3(OTOGL):c.6226+14A>G
|
rs780160987
|
0.00001
|
NM_001379180.1(ESRRB):c.1006G>A (p.Ala336Thr)
|
rs876657463
|
0.00001
|
NM_001379180.1(ESRRB):c.378G>A (p.Val126=)
|
rs190465039
|
0.00001
|
NM_001379180.1(ESRRB):c.850+10T>A
|
rs567273831
|
0.00001
|
NM_001384140.1(PCDH15):c.2092-6T>C
|
rs780684363
|
0.00001
|
NM_001384140.1(PCDH15):c.2385A>G (p.Ala795=)
|
rs61731362
|
0.00001
|
NM_001384140.1(PCDH15):c.3195A>G (p.Gln1065=)
|
rs776720353
|
0.00001
|
NM_001384140.1(PCDH15):c.3276T>C (p.Asn1092=)
|
rs772160626
|
0.00001
|
NM_001384140.1(PCDH15):c.3444C>T (p.Phe1148=)
|
rs876657562
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+13A>G
|
rs727503365
|
0.00001
|
NM_001384140.1(PCDH15):c.4367+8G>A
|
rs727504745
|
0.00001
|
NM_001384474.1(LOXHD1):c.3108C>T (p.Ala1036=)
|
rs727503145
|
0.00001
|
NM_001384474.1(LOXHD1):c.3672C>T (p.Asp1224=)
|
rs876657495
|
0.00001
|
NM_001384474.1(LOXHD1):c.4497A>G (p.Ser1499=)
|
rs876657497
|
0.00001
|
NM_001384474.1(LOXHD1):c.51C>T (p.Ala17=)
|
rs1454767391
|
0.00001
|
NM_001384474.1(LOXHD1):c.6072G>A (p.Thr2024=)
|
rs1376734175
|
0.00001
|
NM_001384474.1(LOXHD1):c.6112C>T (p.Leu2038=)
|
rs1272576323
|
0.00001
|
NM_001384474.1(LOXHD1):c.6269G>A (p.Arg2090Gln)
|
rs760286647
|
0.00001
|
NM_001384474.1(LOXHD1):c.6342-15C>T
|
rs1354633431
|
0.00001
|
NM_001384474.1(LOXHD1):c.670A>C (p.Ile224Leu)
|
rs876657499
|
0.00001
|
NM_001386795.1(DTNA):c.1491G>A (p.Lys497=)
|
rs397517444
|
0.00001
|
NM_001386795.1(DTNA):c.228C>T (p.Leu76=)
|
rs1002773493
|
0.00001
|
NM_001386795.1(DTNA):c.67+12T>A
|
rs876657460
|
0.00001
|
NM_001393500.2(TOMT):c.105C>T (p.Ser35=)
|
rs890009722
|
0.00001
|
NM_001393500.2(TOMT):c.18A>G (p.Ala6=)
|
rs876657500
|
0.00001
|
NM_001393500.2(TOMT):c.19T>C (p.Leu7=)
|
rs876657501
|
0.00001
|
NM_001393500.2(TOMT):c.89C>T (p.Thr30Met)
|
rs876657502
|
0.00001
|
NM_001614.5(ACTG1):c.150G>A (p.Lys50=)
|
rs1482374138
|
0.00001
|
NM_001614.5(ACTG1):c.390G>A (p.Pro130=)
|
rs561518636
|
0.00001
|
NM_001614.5(ACTG1):c.405C>T (p.Ala135=)
|
rs576214455
|
0.00001
|
NM_001614.5(ACTG1):c.636C>A (p.Ile212=)
|
rs727502883
|
0.00001
|
NM_001614.5(ACTG1):c.642G>A (p.Glu214=)
|
rs782187026
|
0.00001
|
NM_001614.5(ACTG1):c.828G>A (p.Glu276=)
|
rs727504806
|
0.00001
|
NM_001927.4(DES):c.282C>G (p.Ala94=)
|
rs397516693
|
0.00001
|
NM_001927.4(DES):c.894G>A (p.Ser298=)
|
rs747073500
|
0.00001
|
NM_001943.5(DSG2):c.1284T>C (p.Tyr428=)
|
rs202095254
|
0.00001
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
NM_001943.5(DSG2):c.782G>A (p.Arg261His)
|
rs727502984
|
0.00001
|
NM_002230.4(JUP):c.2086+7G>C
|
rs727504940
|
0.00001
|
NM_002294.3(LAMP2):c.*2773A>C
|
rs397516587
|
0.00001
|
NM_002294.3(LAMP2):c.657A>G (p.Glu219=)
|
rs876657484
|
0.00001
|
NM_002294.3(LAMP2):c.813A>G (p.Leu271=)
|
rs876657485
|
0.00001
|
NM_002471.4(MYH6):c.1809C>T (p.Asn603=)
|
rs186134696
|
0.00001
|
NM_002471.4(MYH6):c.252C>T (p.Phe84=)
|
rs397516757
|
0.00001
|
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=)
|
rs529107714
|
0.00001
|
NM_002471.4(MYH6):c.5019C>T (p.Ile1673=)
|
rs397516773
|
0.00001
|
NM_002471.4(MYH6):c.5223G>A (p.Ser1741=)
|
rs368828361
|
0.00001
|
NM_002473.6(MYH9):c.11A>G (p.Gln4Arg)
|
rs773960235
|
0.00001
|
NM_002473.6(MYH9):c.1389G>A (p.Ser463=)
|
rs757449139
|
0.00001
|
NM_002473.6(MYH9):c.1587C>T (p.Asp529=)
|
rs753996104
|
0.00001
|
NM_002473.6(MYH9):c.1890C>T (p.Thr630=)
|
rs762239398
|
0.00001
|
NM_002473.6(MYH9):c.2565G>A (p.Val855=)
|
rs370413515
|
0.00001
|
NM_002473.6(MYH9):c.2989C>T (p.Leu997=)
|
rs757028068
|
0.00001
|
NM_002473.6(MYH9):c.333+13C>T
|
rs727503295
|
0.00001
|
NM_002473.6(MYH9):c.3561C>A (p.Ile1187=)
|
rs876657520
|
0.00001
|
NM_002473.6(MYH9):c.4023C>T (p.Phe1341=)
|
rs876657521
|
0.00001
|
NM_002473.6(MYH9):c.4638C>T (p.Asp1546=)
|
rs727503283
|
0.00001
|
NM_002473.6(MYH9):c.4932+13G>A
|
rs373453112
|
0.00001
|
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=)
|
rs727504684
|
0.00001
|
NM_002473.6(MYH9):c.5490C>T (p.Arg1830=)
|
rs754771834
|
0.00001
|
NM_002473.6(MYH9):c.5765+8G>T
|
rs766826415
|
0.00001
|
NM_002473.6(MYH9):c.5766-10C>T
|
rs727503282
|
0.00001
|
NM_002473.6(MYH9):c.888G>A (p.Pro296=)
|
rs559813309
|
0.00001
|
NM_002524.5(NRAS):c.159G>A (p.Leu53=)
|
rs114668710
|
0.00001
|
NM_002654.6(PKM):c.1248C>T (p.Ala416=)
|
rs11558368
|
0.00001
|
NM_002700.3(POU4F3):c.192T>C (p.Asp64=)
|
rs727505245
|
0.00001
|
NM_002755.4(MAP2K1):c.1022+10C>T
|
rs397516787
|
0.00001
|
NM_002755.4(MAP2K1):c.39G>A (p.Pro13=)
|
rs876657503
|
0.00001
|
NM_002755.4(MAP2K1):c.879C>T (p.Pro293=)
|
rs370521459
|
0.00001
|
NM_002764.4(PRPS1):c.12C>T (p.Ile4=)
|
rs752590804
|
0.00001
|
NM_002834.5(PTPN11):c.1161C>T (p.Asn387=)
|
rs727505180
|
0.00001
|
NM_002834.5(PTPN11):c.66A>G (p.Thr22=)
|
rs397516808
|
0.00001
|
NM_002880.3(RAF1):c.-382A>G
|
rs397516812
|
0.00001
|
NM_002880.4(RAF1):c.-169G>A
|
rs727504398
|
0.00001
|
NM_002880.4(RAF1):c.171T>C (p.Thr57=)
|
rs751571550
|
0.00001
|
NM_002880.4(RAF1):c.708C>T (p.His236=)
|
rs370658857
|
0.00001
|
NM_002880.4(RAF1):c.990+9A>G
|
rs559532794
|
0.00001
|
NM_002906.4(RDX):c.1707A>T (p.Arg569=)
|
rs1591131619
|
0.00001
|
NM_002906.4(RDX):c.72A>G (p.Thr24=)
|
rs148468207
|
0.00001
|
NM_003280.3(TNNC1):c.56-9T>C
|
rs727503497
|
0.00001
|
NM_003476.5(CSRP3):c.516T>C (p.Tyr172=)
|
rs727504575
|
0.00001
|
NM_003672.4(CDC14A):c.1371G>A (p.Thr457=)
|
rs751290983
|
0.00001
|
NM_003803.4(MYOM1):c.120C>G (p.Thr40=)
|
rs876657535
|
0.00001
|
NM_003803.4(MYOM1):c.297A>G (p.Thr99=)
|
rs369402806
|
0.00001
|
NM_004004.6(GJB2):c.203A>G (p.Tyr68Cys)
|
rs397516870
|
0.00001
|
NM_004004.6(GJB2):c.219C>T (p.His73=)
|
rs727504755
|
0.00001
|
NM_004004.6(GJB2):c.267C>G (p.Leu89=)
|
rs727503067
|
0.00001
|
NM_004006.3(DMD):c.1975G>A (p.Glu659Lys)
|
rs748567438
|
0.00001
|
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr)
|
rs764330616
|
0.00001
|
NM_004006.3(DMD):c.7660+15A>G
|
rs876657452
|
0.00001
|
NM_004100.5(EYA4):c.1308T>C (p.Asp436=)
|
rs1029890565
|
0.00001
|
NM_004100.5(EYA4):c.1485C>T (p.Tyr495=)
|
rs745611778
|
0.00001
|
NM_004281.4(BAG3):c.465A>G (p.Ala155=)
|
rs775151738
|
0.00001
|
NM_004333.6(BRAF):c.1236C>T (p.Asn412=)
|
rs397516888
|
0.00001
|
NM_004333.6(BRAF):c.1347T>C (p.Asp449=)
|
rs397516889
|
0.00001
|
NM_004333.6(BRAF):c.2128-10T>C
|
rs397516898
|
0.00001
|
NM_004333.6(BRAF):c.2229T>C (p.Phe743=)
|
rs397516901
|
0.00001
|
NM_004333.6(BRAF):c.714A>T (p.Val238=)
|
rs397516902
|
0.00001
|
NM_004403.3(GSDME):c.862+10dup
|
rs730880353
|
0.00001
|
NM_004415.4(DSP):c.145A>G (p.Thr49Ala)
|
rs142059019
|
0.00001
|
NM_004415.4(DSP):c.4419C>T (p.Ala1473=)
|
rs727504542
|
0.00001
|
NM_004447.6(EPS8):c.1542G>A (p.Lys514=)
|
rs570566810
|
0.00001
|
NM_004448.4(ERBB2):c.2443G>A (p.Gly815Arg)
|
rs368094521
|
0.00001
|
NM_004568.6(SERPINB6):c.1128G>A (p.Pro376=)
|
rs727505227
|
0.00001
|
NM_004568.6(SERPINB6):c.178A>G (p.Asn60Asp)
|
rs1442219139
|
0.00001
|
NM_004700.4(KCNQ4):c.1179C>T (p.Gly393=)
|
rs1431582898
|
0.00001
|
NM_004700.4(KCNQ4):c.1770G>A (p.Gly590=)
|
rs762279980
|
0.00001
|
NM_004999.4(MYO6):c.1212A>G (p.Gly404=)
|
rs397517044
|
0.00001
|
NM_004999.4(MYO6):c.2286+8T>C
|
rs780274416
|
0.00001
|
NM_004999.4(MYO6):c.2658+8A>G
|
rs397517048
|
0.00001
|
NM_004999.4(MYO6):c.3384A>G (p.Gln1128=)
|
rs397517051
|
0.00001
|
NM_004999.4(MYO6):c.465C>T (p.Ala155=)
|
rs200963569
|
0.00001
|
NM_004999.4(MYO6):c.887A>G (p.Lys296Arg)
|
rs1402918571
|
0.00001
|
NM_005120.3(MED12):c.4047+14G>A
|
rs774488297
|
0.00001
|
NM_005188.4(CBL):c.1071C>T (p.Pro357=)
|
rs397517075
|
0.00001
|
NM_005188.4(CBL):c.2434+15dup
|
rs397517079
|
0.00001
|
NM_005188.4(CBL):c.2583C>T (p.Ile861=)
|
rs397517080
|
0.00001
|
NM_005188.4(CBL):c.2652C>T (p.Asn884=)
|
rs879302360
|
0.00001
|
NM_005188.4(CBL):c.522T>C (p.Phe174=)
|
rs727502912
|
0.00001
|
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=)
|
rs779376542
|
0.00001
|
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=)
|
rs727504838
|
0.00001
|
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=)
|
rs727504670
|
0.00001
|
NM_005228.5(EGFR):c.2329C>T (p.Leu777=)
|
rs397517117
|
0.00001
|
NM_005228.5(EGFR):c.2484G>A (p.Leu828=)
|
rs727504312
|
0.00001
|
NM_005228.5(EGFR):c.2862C>T (p.Asp954=)
|
rs397517138
|
0.00001
|
NM_005343.4(HRAS):c.112-10C>T
|
rs727503092
|
0.00001
|
NM_005343.4(HRAS):c.378A>G (p.Glu126=)
|
rs397517140
|
0.00001
|
NM_005343.4(HRAS):c.468C>T (p.Phe156=)
|
rs770648642
|
0.00001
|
NM_005343.4(HRAS):c.510G>A (p.Lys170=)
|
rs397517143
|
0.00001
|
NM_005379.4(MYO1A):c.1270-10C>T
|
rs727503322
|
0.00001
|
NM_005379.4(MYO1A):c.522C>T (p.Leu174=)
|
rs561295735
|
0.00001
|
NM_005422.4(TECTA):c.1572C>T (p.Cys524=)
|
rs767426110
|
0.00001
|
NM_005422.4(TECTA):c.1871C>T (p.Ala624Val)
|
rs1248649998
|
0.00001
|
NM_005422.4(TECTA):c.2511G>A (p.Leu837=)
|
rs201725913
|
0.00001
|
NM_005422.4(TECTA):c.2739C>T (p.Gly913=)
|
rs727503460
|
0.00001
|
NM_005422.4(TECTA):c.4047C>T (p.Ala1349=)
|
rs768673774
|
0.00001
|
NM_005422.4(TECTA):c.6303G>A (p.Arg2101=)
|
rs727505252
|
0.00001
|
NM_005548.3(KARS1):c.1184A>G (p.Asn395Ser)
|
rs780462719
|
0.00001
|
NM_005548.3(KARS1):c.1677G>A (p.Thr559=)
|
rs765014185
|
0.00001
|
NM_005633.4(SOS1):c.2838G>A (p.Glu946=)
|
rs397517162
|
0.00001
|
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=)
|
rs142431345
|
0.00001
|
NM_005633.4(SOS1):c.3303T>C (p.Val1101=)
|
rs397517165
|
0.00001
|
NM_005633.4(SOS1):c.552T>C (p.Asn184=)
|
rs727503438
|
0.00001
|
NM_005633.4(SOS1):c.87+9C>T
|
rs397517179
|
0.00001
|
NM_006005.3(WFS1):c.1236C>T (p.Val412=)
|
rs753290200
|
0.00001
|
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln)
|
rs750806151
|
0.00001
|
NM_006005.3(WFS1):c.1335G>C (p.Leu445=)
|
rs1426049330
|
0.00001
|
NM_006005.3(WFS1):c.2028C>T (p.Arg676=)
|
rs201878061
|
0.00001
|
NM_006005.3(WFS1):c.2454C>T (p.Arg818=)
|
rs139223980
|
0.00001
|
NM_006005.3(WFS1):c.2532C>T (p.Ala844=)
|
rs767155345
|
0.00001
|
NM_006005.3(WFS1):c.816C>T (p.Asp272=)
|
rs762774307
|
0.00001
|
NM_006073.4(TRDN):c.232+15A>T
|
rs769101414
|
0.00001
|
NM_006284.4(TAF10):c.*1941C>T
|
rs776123992
|
0.00001
|
NM_006383.4(CIB2):c.141G>A (p.Arg47=)
|
rs199524336
|
0.00001
|
NM_006393.3(NEBL):c.1228-7C>T
|
rs200231082
|
0.00001
|
NM_006393.3(NEBL):c.2547C>T (p.Gly849=)
|
rs180850975
|
0.00001
|
NM_006393.3(NEBL):c.2820C>T (p.His940=)
|
rs532565487
|
0.00001
|
NM_006393.3(NEBL):c.2913C>T (p.Asp971=)
|
rs575423101
|
0.00001
|
NM_006941.4(SOX10):c.1353C>T (p.Ser451=)
|
rs758935474
|
0.00001
|
NM_006941.4(SOX10):c.849C>T (p.His283=)
|
rs773196371
|
0.00001
|
NM_007078.3(LDB3):c.1017T>G (p.Ala339=)
|
rs727504526
|
0.00001
|
NM_007078.3(LDB3):c.1605C>T (p.Thr535=)
|
rs727505207
|
0.00001
|
NM_007078.3(LDB3):c.2025C>T (p.Pro675=)
|
rs876657490
|
0.00001
|
NM_007078.3(LDB3):c.2091C>T (p.Cys697=)
|
rs571356142
|
0.00001
|
NM_007078.3(LDB3):c.690-4832C>T
|
rs546887989
|
0.00001
|
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr)
|
rs749520121
|
0.00001
|
NM_007373.4(SHOC2):c.171C>T (p.Ser57=)
|
rs1554857645
|
0.00001
|
NM_012208.4(HARS2):c.1224A>G (p.Thr408=)
|
rs755985809
|
0.00001
|
NM_012208.4(HARS2):c.733-5T>C
|
rs749557934
|
0.00001
|
NM_013296.5(GPSM2):c.123C>T (p.Arg41=)
|
rs753005800
|
0.00001
|
NM_013296.5(GPSM2):c.186C>T (p.Ser62=)
|
rs199575734
|
0.00001
|
NM_013296.5(GPSM2):c.1872G>A (p.Pro624=)
|
rs1209872502
|
0.00001
|
NM_013296.5(GPSM2):c.249A>G (p.Glu83=)
|
rs727504553
|
0.00001
|
NM_014000.3(VCL):c.1543+15G>A
|
rs759560099
|
0.00001
|
NM_014000.3(VCL):c.2841C>T (p.Asp947=)
|
rs566296495
|
0.00001
|
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg)
|
rs368570586
|
0.00001
|
NM_014000.3(VCL):c.3327T>C (p.Ala1109=)
|
rs397517242
|
0.00001
|
NM_014000.3(VCL):c.874+13T>C
|
rs777617736
|
0.00001
|
NM_014000.3(VCL):c.874+7C>G
|
rs727503737
|
0.00001
|
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe)
|
rs397517251
|
0.00001
|
NM_014476.6(PDLIM3):c.567G>A (p.Gln189=)
|
rs776361335
|
0.00001
|
NM_015340.4(LARS2):c.1840A>G (p.Arg614Gly)
|
rs1447357435
|
0.00001
|
NM_015404.4(WHRN):c.1578T>C (p.Gly526=)
|
rs111033438
|
0.00001
|
NM_015404.4(WHRN):c.1725G>A (p.Gly575=)
|
rs1333495064
|
0.00001
|
NM_015404.4(WHRN):c.1833C>T (p.Ser611=)
|
rs752505729
|
0.00001
|
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr)
|
rs1444564272
|
0.00001
|
NM_015404.4(WHRN):c.690C>T (p.Thr230=)
|
rs779112096
|
0.00001
|
NM_016203.4(PRKAG2):c.1071A>T (p.Thr357=)
|
rs397517260
|
0.00001
|
NM_016203.4(PRKAG2):c.1440T>C (p.Asn480=)
|
rs397517265
|
0.00001
|
NM_016203.4(PRKAG2):c.42T>A (p.Val14=)
|
rs141316327
|
0.00001
|
NM_016203.4(PRKAG2):c.466+7C>A
|
rs397517272
|
0.00001
|
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=)
|
rs373000537
|
0.00001
|
NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln)
|
rs397517281
|
0.00001
|
NM_016203.4(PRKAG2):c.897C>T (p.Asn299=)
|
rs201876556
|
0.00001
|
NM_016239.4(MYO15A):c.3018C>A (p.Gly1006=)
|
rs868037161
|
0.00001
|
NM_016239.4(MYO15A):c.3867-4C>G
|
rs1323926653
|
0.00001
|
NM_016239.4(MYO15A):c.4827C>T (p.Asn1609=)
|
rs372121604
|
0.00001
|
NM_016239.4(MYO15A):c.6486G>A (p.Pro2162=)
|
rs1313329708
|
0.00001
|
NM_016239.4(MYO15A):c.6612C>T (p.Arg2204=)
|
rs752560714
|
0.00001
|
NM_016239.4(MYO15A):c.6669G>A (p.Ala2223=)
|
rs558947304
|
0.00001
|
NM_016239.4(MYO15A):c.6691+6dup
|
rs876657526
|
0.00001
|
NM_016239.4(MYO15A):c.7118-12C>T
|
rs561546411
|
0.00001
|
NM_016239.4(MYO15A):c.7197G>A (p.Leu2399=)
|
rs981596520
|
0.00001
|
NM_016239.4(MYO15A):c.7386C>T (p.Ala2462=)
|
rs568637767
|
0.00001
|
NM_016239.4(MYO15A):c.7758G>A (p.Pro2586=)
|
rs566210647
|
0.00001
|
NM_016239.4(MYO15A):c.7893+14G>A
|
rs727503317
|
0.00001
|
NM_016239.4(MYO15A):c.8115C>T (p.Ser2705=)
|
rs1160269595
|
0.00001
|
NM_016239.4(MYO15A):c.9180C>T (p.Ile3060=)
|
rs968105343
|
0.00001
|
NM_016599.5(MYOZ2):c.190A>C (p.Arg64=)
|
rs727505324
|
0.00001
|
NM_016599.5(MYOZ2):c.560+9A>G
|
rs397517290
|
0.00001
|
NM_016616.5(NME8):c.774C>T (p.Val258=)
|
rs764505957
|
0.00001
|
NM_016929.5(CLIC5):c.192C>T (p.His64=)
|
rs770346363
|
0.00001
|
NM_017433.5(MYO3A):c.288G>A (p.Leu96=)
|
rs760525102
|
0.00001
|
NM_017433.5(MYO3A):c.4847C>T (p.Ser1616Phe)
|
rs752615488
|
0.00001
|
NM_017780.4(CHD7):c.1566C>T (p.Gly522=)
|
rs759347960
|
0.00001
|
NM_017780.4(CHD7):c.176C>G (p.Thr59Ser)
|
rs548706525
|
0.00001
|
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=)
|
rs771141688
|
0.00001
|
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=)
|
rs727502873
|
0.00001
|
NM_020297.4(ABCC9):c.2199-6T>C
|
rs535477725
|
0.00001
|
NM_020297.4(ABCC9):c.2547T>C (p.His849=)
|
rs876657428
|
0.00001
|
NM_020297.4(ABCC9):c.324C>T (p.Ala108=)
|
rs770552940
|
0.00001
|
NM_020297.4(ABCC9):c.406+14C>G
|
rs752547896
|
0.00001
|
NM_020297.4(ABCC9):c.4365G>A (p.Gln1455=)
|
rs727504785
|
0.00001
|
NM_020433.5(JPH2):c.363G>A (p.Glu121=)
|
rs753073876
|
0.00001
|
NM_020975.6(RET):c.2547C>T (p.Gly849=)
|
rs770674650
|
0.00001
|
NM_021116.4(ADCY1):c.1200C>T (p.His400=)
|
rs369432043
|
0.00001
|
NM_021167.5(GATAD1):c.468T>C (p.Ser156=)
|
rs781323574
|
0.00001
|
NM_022114.4(PRDM16):c.1977G>A (p.Pro659=)
|
rs759550479
|
0.00001
|
NM_022114.4(PRDM16):c.2106G>A (p.Lys702=)
|
rs776564044
|
0.00001
|
NM_022114.4(PRDM16):c.657A>C (p.Thr219=)
|
rs777464880
|
0.00001
|
NM_022114.4(PRDM16):c.666C>T (p.Pro222=)
|
rs876657565
|
0.00001
|
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu)
|
rs368597074
|
0.00001
|
NM_022124.6(CDH23):c.1135-7T>C
|
rs397517303
|
0.00001
|
NM_022124.6(CDH23):c.1428G>T (p.Gly476=)
|
rs397517306
|
0.00001
|
NM_022124.6(CDH23):c.1695C>G (p.Ala565=)
|
rs372380590
|
0.00001
|
NM_022124.6(CDH23):c.3151G>A (p.Val1051Ile)
|
rs876657439
|
0.00001
|
NM_022124.6(CDH23):c.3408T>A (p.Arg1136=)
|
rs1223980355
|
0.00001
|
NM_022124.6(CDH23):c.3438T>C (p.His1146=)
|
rs775496154
|
0.00001
|
NM_022124.6(CDH23):c.4128G>C (p.Leu1376=)
|
rs773827025
|
0.00001
|
NM_022124.6(CDH23):c.4425C>T (p.Ser1475=)
|
rs554295504
|
0.00001
|
NM_022124.6(CDH23):c.4617+8C>A
|
rs377526599
|
0.00001
|
NM_022124.6(CDH23):c.4746C>T (p.Ser1582=)
|
rs370132610
|
0.00001
|
NM_022124.6(CDH23):c.5499C>T (p.Ser1833=)
|
rs397517339
|
0.00001
|
NM_022124.6(CDH23):c.552C>T (p.Arg184=)
|
rs768251221
|
0.00001
|
NM_022124.6(CDH23):c.5924-6G>T
|
rs727505190
|
0.00001
|
NM_022124.6(CDH23):c.618C>T (p.Asn206=)
|
rs397517348
|
0.00001
|
NM_022124.6(CDH23):c.6196C>T (p.Arg2066Trp)
|
rs111033489
|
0.00001
|
NM_022124.6(CDH23):c.6264C>A (p.Val2088=)
|
rs727504898
|
0.00001
|
NM_022124.6(CDH23):c.6795C>T (p.Ser2265=)
|
rs751113848
|
0.00001
|
NM_022124.6(CDH23):c.7176C>T (p.Ile2392=)
|
rs375991880
|
0.00001
|
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)
|
rs556148352
|
0.00001
|
NM_022124.6(CDH23):c.9024A>G (p.Glu3008=)
|
rs727505162
|
0.00001
|
NM_022124.6(CDH23):c.9177G>A (p.Pro3059=)
|
rs371609236
|
0.00001
|
NM_022124.6(CDH23):c.9278+15C>T
|
rs727504751
|
0.00001
|
NM_022124.6(CDH23):c.9738+6C>T
|
rs727504562
|
0.00001
|
NM_024334.3(TMEM43):c.763C>T (p.Leu255=)
|
rs761968722
|
0.00001
|
NM_024422.6(DSC2):c.1077+11G>T
|
rs727504868
|
0.00001
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
NM_024422.6(DSC2):c.267G>A (p.Ser89=)
|
rs201363937
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_024915.4(GRHL2):c.373T>G (p.Ser125Ala)
|
rs145518215
|
0.00001
|
NM_024915.4(GRHL2):c.432C>T (p.Pro144=)
|
rs756526962
|
0.00001
|
NM_030662.4(MAP2K2):c.384G>A (p.Pro128=)
|
rs727503156
|
0.00001
|
NM_030662.4(MAP2K2):c.621G>A (p.Glu207=)
|
rs397517416
|
0.00001
|
NM_030662.4(MAP2K2):c.639C>T (p.Phe213=)
|
rs727504818
|
0.00001
|
NM_031475.3(ESPN):c.882C>T (p.Asn294=)
|
rs1023507079
|
0.00001
|
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val)
|
rs727503078
|
0.00001
|
NM_032119.4(ADGRV1):c.11999C>T (p.Thr4000Met)
|
rs758506587
|
0.00001
|
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=)
|
rs727503080
|
0.00001
|
NM_032119.4(ADGRV1):c.13579A>G (p.Ile4527Val)
|
rs777190245
|
0.00001
|
NM_032119.4(ADGRV1):c.14022G>A (p.Lys4674=)
|
rs1554117199
|
0.00001
|
NM_032119.4(ADGRV1):c.14185G>A (p.Asp4729Asn)
|
rs778820230
|
0.00001
|
NM_032119.4(ADGRV1):c.1464G>A (p.Leu488=)
|
rs397517422
|
0.00001
|
NM_032119.4(ADGRV1):c.15076C>T (p.His5026Tyr)
|
rs397517423
|
0.00001
|
NM_032119.4(ADGRV1):c.1509+11T>C
|
rs397517424
|
0.00001
|
NM_032119.4(ADGRV1):c.15300G>A (p.Arg5100=)
|
rs774978203
|
0.00001
|
NM_032119.4(ADGRV1):c.16165T>C (p.Leu5389=)
|
rs1451740883
|
0.00001
|
NM_032119.4(ADGRV1):c.16321A>G (p.Met5441Val)
|
rs1265127867
|
0.00001
|
NM_032119.4(ADGRV1):c.17204+7A>G
|
rs569253795
|
0.00001
|
NM_032119.4(ADGRV1):c.17454+10C>T
|
rs778501967
|
0.00001
|
NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile)
|
rs727504913
|
0.00001
|
NM_032119.4(ADGRV1):c.17594+8T>C
|
rs772433066
|
0.00001
|
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=)
|
rs766197164
|
0.00001
|
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=)
|
rs181146384
|
0.00001
|
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln)
|
rs766225545
|
0.00001
|
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)
|
rs369910075
|
0.00001
|
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=)
|
rs111033484
|
0.00001
|
NM_032119.4(ADGRV1):c.4149C>T (p.Tyr1383=)
|
rs138929990
|
0.00001
|
NM_032119.4(ADGRV1):c.5110+13T>C
|
rs397517431
|
0.00001
|
NM_032119.4(ADGRV1):c.5469A>G (p.Gly1823=)
|
rs766924889
|
0.00001
|
NM_032119.4(ADGRV1):c.5524+15C>T
|
rs397517432
|
0.00001
|
NM_032119.4(ADGRV1):c.6552C>T (p.Ala2184=)
|
rs763086961
|
0.00001
|
NM_032119.4(ADGRV1):c.838A>T (p.Ile280Leu)
|
rs772896545
|
0.00001
|
NM_032119.4(ADGRV1):c.8521A>G (p.Asn2841Asp)
|
rs727504560
|
0.00001
|
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=)
|
rs397517442
|
0.00001
|
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val)
|
rs759038879
|
0.00001
|
NM_032119.4(ADGRV1):c.9477G>A (p.Thr3159=)
|
rs777032531
|
0.00001
|
NM_032229.3(SLITRK6):c.82A>G (p.Arg28Gly)
|
rs1019837602
|
0.00001
|
NM_032578.4(MYPN):c.1188A>G (p.Pro396=)
|
rs371437119
|
0.00001
|
NM_032578.4(MYPN):c.2466G>A (p.Arg822=)
|
rs1298116965
|
0.00001
|
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=)
|
rs727503362
|
0.00001
|
NM_033118.4(MYLK2):c.21A>G (p.Ala7=)
|
rs754853086
|
0.00001
|
NM_033118.4(MYLK2):c.353C>T (p.Ser118Leu)
|
rs727503304
|
0.00001
|
NM_033118.4(MYLK2):c.393G>A (p.Lys131=)
|
rs397517474
|
0.00001
|
NM_033118.4(MYLK2):c.972+13C>T
|
rs876657524
|
0.00001
|
NM_033380.3(COL4A5):c.2865G>A (p.Met955Ile)
|
rs1350078739
|
0.00001
|
NM_033409.4(SLC52A3):c.*12A>G
|
rs547810606
|
0.00001
|
NM_033409.4(SLC52A3):c.927C>T (p.Phe309=)
|
rs781422986
|
0.00001
|
NM_033409.4(SLC52A3):c.951G>A (p.Met317Ile)
|
rs1027231153
|
0.00001
|
NM_057176.3(BSND):c.183C>T (p.Thr61=)
|
rs377452238
|
0.00001
|
NM_080680.3(COL11A2):c.1005T>A (p.Gly335=)
|
rs1288780147
|
0.00001
|
NM_080680.3(COL11A2):c.2808C>T (p.Thr936=)
|
rs775487504
|
0.00001
|
NM_080680.3(COL11A2):c.3531A>C (p.Gly1177=)
|
rs530771165
|
0.00001
|
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln)
|
rs727504832
|
0.00001
|
NM_080680.3(COL11A2):c.3945G>A (p.Gly1315=)
|
rs1321962760
|
0.00001
|
NM_080680.3(COL11A2):c.4797C>T (p.Phe1599=)
|
rs1455846667
|
0.00001
|
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=)
|
rs142893093
|
0.00001
|
NM_133261.3(GIPC3):c.192G>A (p.Lys64=)
|
rs876657466
|
0.00001
|
NM_133261.3(GIPC3):c.315C>T (p.His105=)
|
rs876657468
|
0.00001
|
NM_133261.3(GIPC3):c.75G>T (p.Ser25=)
|
rs1321208549
|
0.00001
|
NM_133261.3(GIPC3):c.788-5C>T
|
rs528822982
|
0.00001
|
NM_133379.5(TTN):c.11064T>C (p.Asn3688=)
|
rs727503672
|
0.00001
|
NM_138691.3(TMC1):c.1071C>T (p.Asn357=)
|
rs1489881026
|
0.00001
|
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile)
|
rs184603559
|
0.00001
|
NM_138691.3(TMC1):c.684C>T (p.Thr228=)
|
rs890529621
|
0.00001
|
NM_139276.3(STAT3):c.1366-11T>C
|
rs761523186
|
0.00001
|
NM_144573.4(NEXN):c.1704C>T (p.Gly568=)
|
rs397517850
|
0.00001
|
NM_144573.4(NEXN):c.237T>C (p.Ala79=)
|
rs727504549
|
0.00001
|
NM_144573.4(NEXN):c.298+10T>C
|
rs397517854
|
0.00001
|
NM_144991.3(TSPEAR):c.306G>A (p.Arg102=)
|
rs782275376
|
0.00001
|
NM_152594.3(SPRED1):c.27C>T (p.Asp9=)
|
rs727504717
|
0.00001
|
NM_152732.5(RSPH9):c.702T>C (p.Asn234=)
|
rs757687268
|
0.00001
|
NM_153676.4(USH1C):c.1531-11A>G
|
rs397517872
|
0.00001
|
NM_153676.4(USH1C):c.2568A>G (p.Val856=)
|
rs1385487954
|
0.00001
|
NM_153676.4(USH1C):c.582C>T (p.Gly194=)
|
rs397517882
|
0.00001
|
NM_153700.2(STRC):c.4581G>A (p.Gln1527=)
|
rs1331991004
|
0.00001
|
NM_153700.2(STRC):c.4844+15G>A
|
rs749407115
|
0.00001
|
NM_153700.2(STRC):c.4904T>C (p.Val1635Ala)
|
rs1370498166
|
0.00001
|
NM_170682.4(P2RX2):c.1413C>T (p.Leu471=)
|
rs568364905
|
0.00001
|
NM_170707.4(LMNA):c.1488+8G>A
|
rs762836610
|
0.00001
|
NM_170707.4(LMNA):c.1731T>C (p.Ala577=)
|
rs776066211
|
0.00001
|
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)
|
rs397517897
|
0.00001
|
NM_170707.4(LMNA):c.954G>A (p.Ala318=)
|
rs397517914
|
0.00001
|
NM_174878.3(CLRN1):c.39C>T (p.Ala13=)
|
rs1056326402
|
0.00001
|
NM_178335.3(CCDC50):c.136G>A (p.Val46Ile)
|
rs762006742
|
0.00001
|
NM_178335.3(CCDC50):c.804G>A (p.Gln268=)
|
rs876657435
|
0.00001
|
NM_194248.3(OTOF):c.*204G>A
|
rs775320200
|
0.00001
|
NM_194248.3(OTOF):c.227+12A>G
|
rs397517938
|
0.00001
|
NM_194248.3(OTOF):c.2406+9G>A
|
rs397517939
|
0.00001
|
NM_194248.3(OTOF):c.2524-14C>T
|
rs727503357
|
0.00001
|
NM_194248.3(OTOF):c.2676+10G>C
|
rs727503356
|
0.00001
|
NM_194248.3(OTOF):c.2972A>G (p.Asn991Ser)
|
rs397517940
|
0.00001
|
NM_194248.3(OTOF):c.3156C>T (p.Phe1052=)
|
rs397517942
|
0.00001
|
NM_194248.3(OTOF):c.3276C>T (p.Phe1092=)
|
rs776668692
|
0.00001
|
NM_194248.3(OTOF):c.3731C>T (p.Thr1244Met)
|
rs368293095
|
0.00001
|
NM_194248.3(OTOF):c.4023+7C>T
|
rs370239223
|
0.00001
|
NM_194248.3(OTOF):c.4734C>T (p.Ile1578=)
|
rs748951588
|
0.00001
|
NM_194248.3(OTOF):c.5103+7C>T
|
rs397517948
|
0.00001
|
NM_194248.3(OTOF):c.5712+6C>G
|
rs200435099
|
0.00001
|
NM_194248.3(OTOF):c.5882C>T (p.Thr1961Met)
|
rs779578562
|
0.00001
|
NM_198253.3(TERT):c.3032+7C>T
|
rs371500615
|
0.00001
|
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=)
|
rs397517967
|
0.00001
|
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln)
|
rs727504582
|
0.00001
|
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val)
|
rs727505097
|
0.00001
|
NM_206933.4(USH2A):c.13386C>T (p.Ile4462=)
|
rs187707339
|
0.00001
|
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro)
|
rs143032902
|
0.00001
|
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=)
|
rs397517986
|
0.00001
|
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser)
|
rs369513607
|
0.00001
|
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met)
|
rs727504686
|
0.00001
|
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=)
|
rs397517992
|
0.00001
|
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=)
|
rs397517995
|
0.00001
|
NM_206933.4(USH2A):c.15102C>T (p.Ser5034=)
|
rs147916810
|
0.00001
|
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=)
|
rs762610249
|
0.00001
|
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)
|
rs546494522
|
0.00001
|
NM_206933.4(USH2A):c.1942A>G (p.Thr648Ala)
|
rs1239032275
|
0.00001
|
NM_206933.4(USH2A):c.3351A>G (p.Pro1117=)
|
rs946318077
|
0.00001
|
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys)
|
rs876657627
|
0.00001
|
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
NM_206933.4(USH2A):c.553A>G (p.Met185Val)
|
rs770266757
|
0.00001
|
NM_206933.4(USH2A):c.5776+7T>G
|
rs397518020
|
0.00001
|
NM_206933.4(USH2A):c.5858-12A>G
|
rs727503727
|
0.00001
|
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=)
|
rs397518028
|
0.00001
|
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)
|
rs397518032
|
0.00001
|
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile)
|
rs778655083
|
0.00001
|
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=)
|
rs727505274
|
0.00001
|
NM_206933.4(USH2A):c.897A>G (p.Gln299=)
|
rs201062965
|
0.00001
|
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)
|
rs559922535
|
0.00001
|
NM_207034.3(EDN3):c.585G>C (p.Gly195=)
|
rs760582150
|
0.00001
|
NC_012920.1(MT-CYB):m.1008A>G
|
rs727504505
|
|
NC_012920.1(MT-CYB):m.1040T>C
|
rs727503163
|
|
NC_012920.1(MT-CYB):m.1041A>G
|
rs58327546
|
|
NC_012920.1(MT-CYB):m.1047A>G
|
rs1556422506
|
|
NC_012920.1(MT-CYB):m.1117A>G
|
rs2068677687
|
|
NC_012920.1(MT-CYB):m.1120C>T
|
rs727505171
|
|
NC_012920.1(MT-CYB):m.1290C>T
|
rs1556422517
|
|
NC_012920.1(MT-CYB):m.1299A>G
|
rs1556422518
|
|
NC_012920.1(MT-CYB):m.953T>C
|
rs1556422495
|
|
NC_012920.1(MT-CYB):m.961_962del
|
rs1556422498
|
|
NC_012920.1(MT-CYB):m.979C>T
|
rs876657507
|
|
NC_012920.1(MT-CYB):m.990T>C
|
rs727503165
|
|
NC_012920.1(MT-ND1):m.1313A>G
|
rs1603218542
|
|
NC_012920.1:m.1341C>T
|
rs1556422519
|
|
NC_012920.1:m.1415G>A
|
rs876657505
|
|
NC_012920.1:m.1461A>G
|
rs1556422534
|
|
NC_012920.1:m.1473C>T
|
rs1556422538
|
|
NC_012920.1:m.1508C>T
|
rs386828884
|
|
NC_012920.1:m.1536A>G
|
rs876657506
|
|
NC_012920.1:m.7472A>T
|
rs1556423293
|
|
NM_000091.5(COL4A3):c.3861C>T (p.Asp1287=)
|
rs865786656
|
|
NM_000091.5(COL4A3):c.405A>G (p.Pro135=)
|
rs1574675832
|
|
NM_000092.5(COL4A4):c.2319G>A (p.Arg773=)
|
rs200920187
|
|
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr)
|
rs200761108
|
|
NM_000092.5(COL4A4):c.297T>A (p.Pro99=)
|
rs1576662029
|
|
NM_000092.5(COL4A4):c.4334-3del
|
rs780415519
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000116.5(TAFAZZIN):c.-17C>T
|
rs727504330
|
|
NM_000117.3(EMD):c.571A>G (p.Met191Val)
|
rs397515752
|
|
NM_000138.5(FBN1):c.300C>T (p.Cys100=)
|
rs397515783
|
|
NM_000138.5(FBN1):c.7881G>A (p.Gly2627=)
|
rs397515858
|
|
NM_000169.3(GLA):c.194+14G>C
|
rs876657469
|
|
NM_000169.3(GLA):c.28C>T (p.Leu10=)
|
rs727503073
|
|
NM_000169.3(GLA):c.630C>T (p.Pro210=)
|
rs727503071
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.1374C>T (p.Val458=)
|
rs778598703
|
|
NM_000218.3(KCNQ1):c.1394-8C>T
|
rs371488379
|
|
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=)
|
rs569971691
|
|
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=)
|
rs587781009
|
|
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=)
|
rs757713526
|
|
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)
|
rs146350010
|
|
NM_000218.3(KCNQ1):c.781-19TG[2]
|
rs727503103
|
|
NM_000219.3(KCNE1):c.(?_-50-60)_(*181_?)dup
|
|
|
NM_000219.6(KCNE1):c.18C>G (p.Thr6=)
|
rs727503102
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000251.3(MSH2):c.51C>T (p.Val17=)
|
rs397515879
|
|
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=)
|
rs397515880
|
|
NM_000256.3(MYBPC3):c.1624+13G>A
|
rs397515913
|
|
NM_000256.3(MYBPC3):c.1624+13G>C
|
rs397515913
|
|
NM_000256.3(MYBPC3):c.1624+9G>A
|
rs397515917
|
|
NM_000256.3(MYBPC3):c.1641G>A (p.Val547=)
|
rs397515915
|
|
NM_000256.3(MYBPC3):c.1719T>G (p.Val573=)
|
rs397515921
|
|
NM_000256.3(MYBPC3):c.1776G>A (p.Val592=)
|
rs727503196
|
|
NM_000256.3(MYBPC3):c.1791-10_1791-8delinsCCT
|
rs876657510
|
|
NM_000256.3(MYBPC3):c.2136G>A (p.Val712=)
|
rs876657511
|
|
NM_000256.3(MYBPC3):c.2309-20G>A
|
rs397515958
|
|
NM_000256.3(MYBPC3):c.2499G>A (p.Ala833=)
|
rs397515967
|
|
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=)
|
rs372510974
|
|
NM_000256.3(MYBPC3):c.2856T>G (p.Pro952=)
|
rs397515989
|
|
NM_000256.3(MYBPC3):c.3087C>T (p.Ile1029=)
|
rs201515977
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
NM_000256.3(MYBPC3):c.3285G>C (p.Thr1095=)
|
rs367927327
|
|
NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=)
|
rs200372325
|
|
NM_000256.3(MYBPC3):c.333T>C (p.Ala111=)
|
rs397516017
|
|
NM_000256.3(MYBPC3):c.3585C>A (p.Gly1195=)
|
rs397516027
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.3651T>C (p.Asn1217=)
|
rs528649058
|
|
NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=)
|
rs397516039
|
|
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)
|
rs727505267
|
|
NM_000256.3(MYBPC3):c.933G>A (p.Ser311=)
|
rs374326087
|
|
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=)
|
rs374326087
|
|
NM_000257.4(MYH7):c.1269C>T (p.Ala423=)
|
rs727503267
|
|
NM_000257.4(MYH7):c.1536C>T (p.Asp512=)
|
rs1555338248
|
|
NM_000257.4(MYH7):c.156G>A (p.Val52=)
|
rs397516112
|
|
NM_000257.4(MYH7):c.1653G>A (p.Lys551=)
|
rs368160680
|
|
NM_000257.4(MYH7):c.1755C>A (p.Ile585=)
|
rs201860580
|
|
NM_000257.4(MYH7):c.183C>G (p.Ala61=)
|
rs370743876
|
|
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile)
|
rs727503262
|
|
NM_000257.4(MYH7):c.2358G>T (p.Thr786=)
|
rs36211714
|
|
NM_000257.4(MYH7):c.2388C>T (p.Leu796=)
|
rs397516144
|
|
NM_000257.4(MYH7):c.2799T>C (p.Asn933=)
|
rs397516173
|
|
NM_000257.4(MYH7):c.2802T>G (p.Ala934=)
|
rs397516174
|
|
NM_000257.4(MYH7):c.2823C>T (p.Arg941=)
|
rs727503251
|
|
NM_000257.4(MYH7):c.3438C>T (p.Ile1146=)
|
rs876657519
|
|
NM_000257.4(MYH7):c.3621C>A (p.Ile1207=)
|
rs529700838
|
|
NM_000257.4(MYH7):c.3754T>C (p.Leu1252=)
|
rs397516193
|
|
NM_000257.4(MYH7):c.3829C>A (p.Arg1277=)
|
rs727503248
|
|
NM_000257.4(MYH7):c.396G>T (p.Pro132=)
|
rs138932714
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)
|
rs200852418
|
|
NM_000257.4(MYH7):c.4212G>T (p.Val1404=)
|
rs397516205
|
|
NM_000257.4(MYH7):c.4362C>G (p.Ala1454=)
|
rs727505281
|
|
NM_000257.4(MYH7):c.4395G>T (p.Ser1465=)
|
rs397516213
|
|
NM_000257.4(MYH7):c.4515G>T (p.Leu1505=)
|
rs397516219
|
|
NM_000257.4(MYH7):c.4953+13A>T
|
rs373509029
|
|
NM_000257.4(MYH7):c.5421C>G (p.Gly1807=)
|
rs142844109
|
|
NM_000257.4(MYH7):c.5421C>T (p.Gly1807=)
|
rs142844109
|
|
NM_000257.4(MYH7):c.5656-4G>C
|
rs397516250
|
|
NM_000257.4(MYH7):c.5739C>T (p.Ala1913=)
|
rs200921000
|
|
NM_000257.4(MYH7):c.895+11G>A
|
rs727504860
|
|
NM_000258.3(MYL3):c.165G>A (p.Lys55=)
|
rs397516277
|
|
NM_000258.3(MYL3):c.477G>T (p.Thr159=)
|
rs148365503
|
|
NM_000258.3(MYL3):c.9C>G (p.Pro3=)
|
rs397516280
|
|
NM_000260.4(MYO7A):c.1343+8G>T
|
rs2276278
|
|
NM_000260.4(MYO7A):c.1623C>G (p.Pro541=)
|
rs373327248
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.2829G>A (p.Val943=)
|
rs797044494
|
|
NM_000260.4(MYO7A):c.3036A>G (p.Thr1012=)
|
rs111033251
|
|
NM_000260.4(MYO7A):c.3109-13_3109-12insTCTGGCCTCTGACATGTGCGC
|
rs869312123
|
|
NM_000260.4(MYO7A):c.3924+10CCCGGAAGCACCTCCT[3]
|
rs759572835
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4153-8C>T
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4251C>T (p.Ile1417=)
|
rs397516307
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5487C>T (p.Ser1829=)
|
rs397516318
|
|
NM_000260.4(MYO7A):c.6054G>A (p.Glu2018=)
|
rs1239820996
|
|
NM_000260.4(MYO7A):c.612C>A (p.Thr204=)
|
rs1555062863
|
|
NM_000260.4(MYO7A):c.6267A>G (p.Ala2089=)
|
rs564910239
|
|
NM_000260.4(MYO7A):c.765C>T (p.Phe255=)
|
rs782702948
|
|
NM_000295.5(SERPINA1):c.792G>A (p.Leu264=)
|
rs1429761476
|
|
NM_000307.5(POU3F4):c.249C>A (p.Pro83=)
|
rs370722742
|
|
NM_000307.5(POU3F4):c.591C>T (p.Phe197=)
|
rs1555984566
|
|
NM_000307.5(POU3F4):c.798G>A (p.Pro266=)
|
rs186990152
|
|
NM_000335.5(SCN5A):c.1020G>T (p.Arg340=)
|
rs727503410
|
|
NM_000335.5(SCN5A):c.1347C>A (p.Thr449=)
|
rs45477694
|
|
NM_000335.5(SCN5A):c.1653G>A (p.Ala551=)
|
rs397517952
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.3508+14C>A
|
rs397516561
|
|
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=)
|
rs200334972
|
|
NM_000335.5(SCN5A):c.4296+10C>T
|
rs1553694579
|
|
NM_000335.5(SCN5A):c.567T>C (p.Leu189=)
|
rs876657581
|
|
NM_000335.5(SCN5A):c.756T>C (p.Asp252=)
|
rs397517958
|
|
NM_000336.3(SCNN1B):c.1554G>A (p.Leu518=)
|
rs1351010659
|
|
NM_000337.6(SGCD):c.177C>T (p.Val59=)
|
rs727505265
|
|
NM_000361.3(THBD):c.456C>T (p.Ile152=)
|
rs1060499909
|
|
NM_000363.5(TNNI3):c.105C>A (p.Ala35=)
|
rs397516339
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000363.5(TNNI3):c.150+13G>T
|
rs73617692
|
|
NM_000364.4(TNNT2):c.489+7dup
|
rs397516467
|
|
NM_000371.4(TTR):c.369C>G (p.Arg123=)
|
rs1598846734
|
|
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
|
|
|
NM_000414.4(HSD17B4):c.113-2248T>C
|
rs876657476
|
|
NM_000414.4(HSD17B4):c.1450A>G (p.Ile484Val)
|
rs775297352
|
|
NM_000414.4(HSD17B4):c.1809G>A (p.Val603=)
|
rs1279792063
|
|
NM_000414.4(HSD17B4):c.2121+7T>C
|
rs876657477
|
|
NM_000432.4(MYL2):c.141C>T (p.Asn47=)
|
rs199474808
|
|
NM_000432.4(MYL2):c.237T>C (p.Phe79=)
|
rs727503298
|
|
NM_000432.4(MYL2):c.274+9GT[10]
|
rs142567411
|
|
NM_000432.4(MYL2):c.324T>C (p.Pro108=)
|
rs397516403
|
|
NM_000432.4(MYL2):c.429C>G (p.Pro143=)
|
rs374328118
|
|
NM_000432.4(MYL2):c.480C>T (p.Thr160=)
|
rs727505065
|
|
NM_000441.1(SLC26A4):c.-66C>T
|
rs17154282
|
|
NM_000441.2(SLC26A4):c.1545-14_1545-12del
|
rs397516419
|
|
NM_000441.2(SLC26A4):c.2029C>A (p.Arg677=)
|
rs397516426
|
|
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)
|
rs370020280
|
|
NM_000441.2(SLC26A4):c.75G>C (p.Pro25=)
|
rs570668954
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000492.4(CFTR):c.489+8T>C
|
rs727504712
|
|
NM_000501.4(ELN):c.1269C>G (p.Val423=)
|
rs61734583
|
|
NM_000503.6(EYA1):c.967-13T>C
|
rs749461885
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000542.5(SFTPB):c.29TGC[4] (p.Leu14del)
|
rs147057701
|
|
NM_000542.5(SFTPB):c.741G>A (p.Gln247=)
|
rs727503418
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000601.6(HGF):c.1041-12T>C
|
rs546227025
|
|
NM_001005242.3(PKP2):c.1287C>T (p.Asn429=)
|
rs727505239
|
|
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)
|
rs397516998
|
|
NM_001005242.3(PKP2):c.1556+9A>G
|
rs397517004
|
|
NM_001005242.3(PKP2):c.1624C>T (p.Leu542=)
|
rs397517007
|
|
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=)
|
rs377504106
|
|
NM_001005242.3(PKP2):c.2268C>T (p.Asn756=)
|
rs876657564
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001018005.2(TPM1):c.115-298G>A
|
rs786205439
|
|
NM_001018005.2(TPM1):c.321A>C (p.Ala107=)
|
rs397516368
|
|
NM_001018005.2(TPM1):c.563+10C>T
|
rs397516377
|
|
NM_001018005.2(TPM1):c.563+348G>T
|
rs397516381
|
|
NM_001018005.2(TPM1):c.563+6C>A
|
rs397516378
|
|
NM_001018005.2(TPM1):c.603G>C (p.Thr201=)
|
rs397516485
|
|
NM_001018005.2(TPM1):c.639+13del
|
rs397516488
|
|
NM_001018116.2(CAVIN4):c.702_722del (p.234_240LRQSGER[2])
|
rs876657508
|
|
NM_001018116.2(CAVIN4):c.868A>C (p.Arg290=)
|
rs876657509
|
|
NM_001032283.3(TMPO):c.396T>A (p.Gly132=)
|
rs397516844
|
|
NM_001032283.3(TMPO):c.565+2042A>C
|
rs397516842
|
|
NM_001032283.3(TMPO):c.663+13T>G
|
rs727504798
|
|
NM_001032283.3(TMPO):c.681A>G (p.Gly227=)
|
rs727504733
|
|
NM_001035.2(RYR2):c.14091-11dup
|
rs35563566
|
|
NM_001035.3(RYR2):c.1056T>C (p.Ser352=)
|
rs876657573
|
|
NM_001035.3(RYR2):c.10602A>G (p.Leu3534=)
|
rs397516498
|
|
NM_001035.3(RYR2):c.11092-11del
|
rs397516499
|
|
NM_001035.3(RYR2):c.11092-11dup
|
rs397516499
|
|
NM_001035.3(RYR2):c.11092-12_11092-11del
|
rs397516499
|
|
NM_001035.3(RYR2):c.11385C>A (p.Gly3795=)
|
rs919989129
|
|
NM_001035.3(RYR2):c.1170+15A>G
|
rs727504810
|
|
NM_001035.3(RYR2):c.11775+13del
|
rs397516507
|
|
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=)
|
rs372943408
|
|
NM_001035.3(RYR2):c.13071C>T (p.Ala4357=)
|
rs876657574
|
|
NM_001035.3(RYR2):c.14091-11del
|
rs35563566
|
|
NM_001035.3(RYR2):c.1446G>A (p.Leu482=)
|
rs397516517
|
|
NM_001035.3(RYR2):c.1477-11del
|
rs397516518
|
|
NM_001035.3(RYR2):c.1477-11dup
|
rs397516518
|
|
NM_001035.3(RYR2):c.2396+12T>A
|
rs876657576
|
|
NM_001035.3(RYR2):c.2871T>C (p.Ala957=)
|
rs771821687
|
|
NM_001035.3(RYR2):c.3567A>G (p.Glu1189=)
|
rs368959706
|
|
NM_001035.3(RYR2):c.3599-9del
|
rs11331089
|
|
NM_001035.3(RYR2):c.375T>C (p.Tyr125=)
|
rs397516528
|
|
NM_001035.3(RYR2):c.385-9A>C
|
rs140998248
|
|
NM_001035.3(RYR2):c.4125T>C (p.Asp1375=)
|
rs397516529
|
|
NM_001035.3(RYR2):c.4160+10T>C
|
rs397516530
|
|
NM_001035.3(RYR2):c.4395A>C (p.Val1465=)
|
rs1308165341
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.4770C>T (p.Phe1590=)
|
rs397516536
|
|
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=)
|
rs727504997
|
|
NM_001035.3(RYR2):c.4950G>A (p.Leu1650=)
|
rs376251968
|
|
NM_001035.3(RYR2):c.5190G>A (p.Thr1730=)
|
rs397516541
|
|
NM_001035.3(RYR2):c.5616T>C (p.Asp1872=)
|
rs765786213
|
|
NM_001035.3(RYR2):c.6738G>A (p.Ser2246=)
|
rs368207198
|
|
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)
|
rs371560909
|
|
NM_001035.3(RYR2):c.7222-12dup
|
rs145140335
|
|
NM_001035.3(RYR2):c.7287G>A (p.Leu2429=)
|
rs876657578
|
|
NM_001035.3(RYR2):c.9198G>A (p.Glu3066=)
|
rs727504729
|
|
NM_001038603.3(MARVELD2):c.156A>T (p.Pro52=)
|
rs138816138
|
|
NM_001039141.3(TRIOBP):c.301G>A (p.Ala101Thr)
|
rs752612856
|
|
NM_001039141.3(TRIOBP):c.4101G>A (p.Arg1367=)
|
rs727505244
|
|
NM_001039141.3(TRIOBP):c.4244G>A (p.Ser1415Asn)
|
rs727505184
|
|
NM_001039141.3(TRIOBP):c.4271T>C (p.Leu1424Pro)
|
rs727505298
|
|
NM_001039141.3(TRIOBP):c.4572G>A (p.Glu1524=)
|
rs876657593
|
|
NM_001039141.3(TRIOBP):c.4621G>A (p.Ala1541Thr)
|
rs727504784
|
|
NM_001039141.3(TRIOBP):c.4645C>T (p.Arg1549Cys)
|
rs727505081
|
|
NM_001039141.3(TRIOBP):c.5358G>A (p.Ser1786=)
|
rs139435527
|
|
NM_001039141.3(TRIOBP):c.5358G>T (p.Ser1786=)
|
rs139435527
|
|
NM_001039141.3(TRIOBP):c.6283T>C (p.Ser2095Pro)
|
rs369453731
|
|
NM_001039141.3(TRIOBP):c.6324+9G>A
|
rs376601715
|
|
NM_001039141.3(TRIOBP):c.6936+13G>T
|
rs727503529
|
|
NM_001039141.3(TRIOBP):c.6975T>C (p.Tyr2325=)
|
rs1601672944
|
|
NM_001039213.4(CEACAM16):c.*4C>A
|
rs199656542
|
|
NM_001039213.4(CEACAM16):c.1249G>C (p.Val417Leu)
|
rs199597608
|
|
NM_001039213.4(CEACAM16):c.246G>A (p.Thr82=)
|
rs761814983
|
|
NM_001039213.4(CEACAM16):c.941-8C>T
|
rs876657441
|
|
NM_001039876.3(SYNE4):c.1157G>A (p.Arg386Gln)
|
rs200818193
|
|
NM_001039876.3(SYNE4):c.411G>A (p.Met137Ile)
|
rs760007740
|
|
NM_001039876.3(SYNE4):c.59C>T (p.Pro20Leu)
|
rs1450675140
|
|
NM_001042475.3(CEP85L):c.1020+6445A>T
|
rs397516782
|
|
NM_001042492.3(NF1):c.1450C>T (p.Leu484=)
|
rs876657544
|
|
NM_001042492.3(NF1):c.4752C>T (p.Phe1584=)
|
rs876657545
|
|
NM_001042492.3(NF1):c.6366A>G (p.Thr2122=)
|
rs876657547
|
|
NM_001042492.3(NF1):c.6732G>A (p.Leu2244=)
|
rs876657548
|
|
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr)
|
rs199878086
|
|
NM_001042702.5(PJVK):c.195C>G (p.Asp65Glu)
|
rs727504946
|
|
NM_001042702.5(PJVK):c.360C>A (p.Thr120=)
|
rs876657450
|
|
NM_001080476.2(GRXCR1):c.(?_-62)_*(153_?)dup
|
|
|
NM_001080476.3(GRXCR1):c.234T>C (p.Asp78=)
|
rs376086928
|
|
NM_001080476.3(GRXCR1):c.597T>A (p.Pro199=)
|
rs1553941946
|
|
NM_001080476.3(GRXCR1):c.627+8A>T
|
rs10213360
|
|
NM_001080476.3(GRXCR1):c.628-11C>T
|
rs727503089
|
|
NM_001080476.3(GRXCR1):c.822T>C (p.Cys274=)
|
rs1441618706
|
|
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=)
|
rs138901284
|
|
NM_001098671.2(RASGRP2):c.81C>T (p.Ser27=)
|
rs1060499893
|
|
NM_001099402.2(CCNK):c.1446G>C (p.Pro482=)
|
rs746815273
|
|
NM_001099402.2(CCNK):c.1524A>C (p.Pro508=)
|
rs776290356
|
|
NM_001099402.2(CCNK):c.1530A>C (p.Pro510=)
|
rs759190666
|
|
NM_001103.4(ACTN2):c.1104G>A (p.Val368=)
|
rs397516563
|
|
NM_001103.4(ACTN2):c.1278G>A (p.Gln426=)
|
rs397516565
|
|
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr)
|
rs142943120
|
|
NM_001103.4(ACTN2):c.18C>A (p.Pro6=)
|
rs368367224
|
|
NM_001103.4(ACTN2):c.2506C>A (p.Arg836=)
|
rs727502887
|
|
NM_001103.4(ACTN2):c.324C>A (p.Ala108=)
|
rs727502885
|
|
NM_001103.4(ACTN2):c.786C>T (p.Ala262=)
|
rs201636760
|
|
NM_001103.4(ACTN2):c.93C>T (p.Leu31=)
|
rs397516586
|
|
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)
|
rs371622656
|
|
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val)
|
rs727503116
|
|
NM_001105206.3(LAMA4):c.1374G>A (p.Glu458=)
|
rs397516717
|
|
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu)
|
rs727503115
|
|
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=)
|
rs201152817
|
|
NM_001105206.3(LAMA4):c.2977-5C>T
|
rs1554332652
|
|
NM_001105206.3(LAMA4):c.4386C>T (p.Ser1462=)
|
rs397516729
|
|
NM_001105206.3(LAMA4):c.5002T>C (p.Leu1668=)
|
rs369799390
|
|
NM_001110219.3(GJB6):c.264G>A (p.Ala88=)
|
rs758356020
|
|
NM_001114753.3(ENG):c.909C>T (p.Ala303=)
|
rs200306464
|
|
NM_001122659.3(EDNRB):c.1284C>A (p.His428Gln)
|
rs754498240
|
|
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)
|
rs77132068
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
NM_001127453.2(GSDME):c.1416G>A (p.Lys472=)
|
rs727504956
|
|
NM_001127453.2(GSDME):c.570G>A (p.Thr190=)
|
rs876657449
|
|
NM_001127453.2(GSDME):c.656A>G (p.Tyr219Cys)
|
rs1554325967
|
|
NM_001128228.3(TPRN):c.1818GGA[11] (p.Glu620_Glu621dup)
|
rs376810326
|
|
NM_001128228.3(TPRN):c.2073+10G>A
|
rs368771637
|
|
NM_001128840.3(CACNA1D):c.1956G>T (p.Ser652=)
|
rs746739986
|
|
NM_001128840.3(CACNA1D):c.2277A>G (p.Glu759=)
|
rs770074186
|
|
NM_001128840.3(CACNA1D):c.450T>C (p.Pro150=)
|
rs876657433
|
|
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=)
|
rs776968811
|
|
NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=)
|
rs767458712
|
|
NM_001128840.3(CACNA1D):c.6162G>A (p.Lys2054=)
|
rs876657434
|
|
NM_001134363.3(RBM20):c.1266T>C (p.Phe422=)
|
rs727504737
|
|
NM_001134363.3(RBM20):c.1612C>T (p.Leu538=)
|
rs876657569
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
NM_001134363.3(RBM20):c.2001T>C (p.Ala667=)
|
rs1844780588
|
|
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu)
|
rs397516601
|
|
NM_001134363.3(RBM20):c.2517T>C (p.Asp839=)
|
rs727504467
|
|
NM_001134363.3(RBM20):c.2784G>A (p.Glu928=)
|
rs397516609
|
|
NM_001134363.3(RBM20):c.2844T>C (p.Cys948=)
|
rs727503389
|
|
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr)
|
rs147356378
|
|
NM_001134363.3(RBM20):c.3451+10AC[2]
|
rs397516615
|
|
NM_001134363.3(RBM20):c.465T>C (p.His155=)
|
rs397516620
|
|
NM_001134363.3(RBM20):c.831C>G (p.Ala277=)
|
rs397516624
|
|
NM_001135556.2(DYNC1I1):c.109-7C>T
|
rs1060499856
|
|
NM_001145809.2(MYH14):c.1330-7C>T
|
rs1455864505
|
|
NM_001145809.2(MYH14):c.1533G>A (p.Gln511=)
|
rs727504664
|
|
NM_001145809.2(MYH14):c.1625T>G (p.Leu542Arg)
|
rs727504564
|
|
NM_001145809.2(MYH14):c.2232+9C>T
|
rs1335453719
|
|
NM_001145809.2(MYH14):c.33G>A (p.Arg11=)
|
rs8106196
|
|
NM_001145809.2(MYH14):c.3987G>A (p.Gly1329=)
|
rs876657515
|
|
NM_001145809.2(MYH14):c.4098G>A (p.Lys1366=)
|
rs876657516
|
|
NM_001145809.2(MYH14):c.4152G>A (p.Glu1384=)
|
rs727504965
|
|
NM_001145809.2(MYH14):c.5076C>A (p.Ala1692=)
|
rs727503229
|
|
NM_001145809.2(MYH14):c.5268C>T (p.Ala1756=)
|
rs919018072
|
|
NM_001145809.2(MYH14):c.590+13G>A
|
rs727504954
|
|
NM_001145809.2(MYH14):c.5961-14T>C
|
rs757255560
|
|
NM_001145809.2(MYH14):c.660G>A (p.Ser220=)
|
rs201835322
|
|
NM_001145809.2(MYH14):c.66G>A (p.Glu22=)
|
rs2032117052
|
|
NM_001146079.2(CLDN14):c.505A>G (p.Ile169Val)
|
rs1555841637
|
|
NM_001164508.2(NEB):c.12483C>T (p.Val4161=)
|
rs876657539
|
|
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=)
|
rs147579763
|
|
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)
|
rs876657540
|
|
NM_001164508.2(NEB):c.13368+11A>G
|
rs112260335
|
|
NM_001164508.2(NEB):c.13476C>T (p.Asp4492=)
|
rs876657541
|
|
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg)
|
rs876657542
|
|
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer)
|
rs778073001
|
|
NM_001194.4(HCN2):c.246C>T (p.Cys82=)
|
rs1060499863
|
|
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)
|
rs555444131
|
|
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])
|
rs397516634
|
|
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3])
|
rs727503369
|
|
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=)
|
rs553497128
|
|
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=)
|
rs754551693
|
|
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=)
|
rs188739853
|
|
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=)
|
rs769290045
|
|
NM_001199107.2(TBC1D24):c.843C>G (p.Ser281=)
|
rs1555501311
|
|
NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=)
|
rs1328290571
|
|
NM_001199107.2(TBC1D24):c.903G>A (p.Gln301=)
|
rs776739391
|
|
NM_001199799.2(ILDR1):c.1425C>A (p.Gly475=)
|
rs1183661317
|
|
NM_001199799.2(ILDR1):c.255C>T (p.Gly85=)
|
rs1553744679
|
|
NM_001199799.2(ILDR1):c.561G>A (p.Val187=)
|
rs775815087
|
|
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys)
|
rs182963279
|
|
NM_001199799.2(ILDR1):c.762C>T (p.His254=)
|
rs397516638
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu)
|
rs150486780
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
NM_001232.4(CASQ2):c.19T>C (p.Phe7Leu)
|
rs727502911
|
|
NM_001232.4(CASQ2):c.421-15C>G
|
rs199939582
|
|
NM_001232.4(CASQ2):c.421-15C>T
|
rs199939582
|
|
NM_001243133.2(NLRP3):c.375C>A (p.Ile125=)
|
rs758069883
|
|
NM_001252275.3(UGT2A1):c.576T>A (p.Tyr192Ter)
|
rs111696697
|
|
NM_001256317.3(TMPRSS3):c.333T>C (p.Gly111=)
|
rs397517375
|
|
NM_001256317.3(TMPRSS3):c.446+9A>G
|
rs367594676
|
|
NM_001256317.3(TMPRSS3):c.497G>A (p.Arg166Gln)
|
rs150397427
|
|
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)
|
rs150397427
|
|
NM_001256317.3(TMPRSS3):c.918C>T (p.Ala306=)
|
rs749538864
|
|
NM_001256317.3(TMPRSS3):c.953-9T>C
|
rs1555853318
|
|
NM_001256850.1(TTN):c.75630_75631delinsTT (p.Arg25211Cys)
|
rs397517716
|
|
NM_001267550.2(TTN):c.10114+14C>T
|
rs876657598
|
|
NM_001267550.2(TTN):c.101214T>C (p.Arg33738=)
|
rs876657617
|
|
NM_001267550.2(TTN):c.102846T>A (p.Thr34282=)
|
rs876657618
|
|
NM_001267550.2(TTN):c.104985A>G (p.Gly34995=)
|
rs397517793
|
|
NM_001267550.2(TTN):c.104995C>T (p.Leu34999=)
|
rs727503532
|
|
NM_001267550.2(TTN):c.105843A>T (p.Pro35281=)
|
rs876657619
|
|
NM_001267550.2(TTN):c.10770G>A (p.Glu3590=)
|
rs377401997
|
|
NM_001267550.2(TTN):c.11311+1079_11311+1080del
|
rs58651353
|
|
NM_001267550.2(TTN):c.11311+1080del
|
rs58651353
|
|
NM_001267550.2(TTN):c.11334T>C (p.Ser3778=)
|
rs397517824
|
|
NM_001267550.2(TTN):c.12037G>A (p.Ala4013Thr)
|
rs397517828
|
|
NM_001267550.2(TTN):c.13501A>G (p.Thr4501Ala)
|
rs750320283
|
|
NM_001267550.2(TTN):c.13599A>G (p.Glu4533=)
|
rs727503654
|
|
NM_001267550.2(TTN):c.1398+4C>T
|
rs368548209
|
|
NM_001267550.2(TTN):c.14169C>T (p.Ile4723=)
|
rs397517479
|
|
NM_001267550.2(TTN):c.14850C>G (p.Ala4950=)
|
rs376339761
|
|
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)
|
rs72648929
|
|
NM_001267550.2(TTN):c.151C>T (p.Leu51=)
|
rs397517489
|
|
NM_001267550.2(TTN):c.15901T>C (p.Leu5301=)
|
rs727505349
|
|
NM_001267550.2(TTN):c.1728A>G (p.Lys576=)
|
rs727503703
|
|
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=)
|
rs557350005
|
|
NM_001267550.2(TTN):c.18810G>A (p.Gln6270=)
|
rs727505012
|
|
NM_001267550.2(TTN):c.19914T>C (p.Ala6638=)
|
rs1317197263
|
|
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=)
|
rs535793314
|
|
NM_001267550.2(TTN):c.20263G>C (p.Val6755Leu)
|
rs876657599
|
|
NM_001267550.2(TTN):c.20367G>A (p.Pro6789=)
|
rs368422028
|
|
NM_001267550.2(TTN):c.20736A>G (p.Leu6912=)
|
rs876657600
|
|
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)
|
rs376882041
|
|
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del)
|
rs727503701
|
|
NM_001267550.2(TTN):c.23098+15G>T
|
rs397517503
|
|
NM_001267550.2(TTN):c.23214T>C (p.Asp7738=)
|
rs727503648
|
|
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)
|
rs149523263
|
|
NM_001267550.2(TTN):c.2376G>A (p.Lys792=)
|
rs727504854
|
|
NM_001267550.2(TTN):c.23919T>C (p.Thr7973=)
|
rs727504974
|
|
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)
|
rs749823104
|
|
NM_001267550.2(TTN):c.25545T>C (p.Val8515=)
|
rs397517515
|
|
NM_001267550.2(TTN):c.26055C>T (p.Ser8685=)
|
rs727505250
|
|
NM_001267550.2(TTN):c.2607T>C (p.Thr869=)
|
rs143969192
|
|
NM_001267550.2(TTN):c.26201-13C>T
|
rs727505138
|
|
NM_001267550.2(TTN):c.2682T>C (p.Ala894=)
|
rs727505299
|
|
NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg)
|
rs774924294
|
|
NM_001267550.2(TTN):c.27849G>A (p.Val9283=)
|
rs397517525
|
|
NM_001267550.2(TTN):c.27886+10A>G
|
rs397517526
|
|
NM_001267550.2(TTN):c.28641C>T (p.Asn9547=)
|
rs727505185
|
|
NM_001267550.2(TTN):c.29238C>T (p.Phe9746=)
|
rs727503640
|
|
NM_001267550.2(TTN):c.29604+7T>C
|
rs727503639
|
|
NM_001267550.2(TTN):c.30512-19dup
|
rs397517532
|
|
NM_001267550.2(TTN):c.30682+10C>T
|
rs727505022
|
|
NM_001267550.2(TTN):c.31149G>A (p.Glu10383=)
|
rs727504724
|
|
NM_001267550.2(TTN):c.31542T>C (p.Thr10514=)
|
rs876657602
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
NM_001267550.2(TTN):c.3228T>C (p.Pro1076=)
|
rs876657604
|
|
NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser)
|
rs727503635
|
|
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=)
|
rs397517542
|
|
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln)
|
rs181395238
|
|
NM_001267550.2(TTN):c.33172+15del
|
rs559323758
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.34453+14G>A
|
rs397517550
|
|
NM_001267550.2(TTN):c.34708+9G>T
|
rs397517551
|
|
NM_001267550.2(TTN):c.34855+7C>T
|
rs397517552
|
|
NM_001267550.2(TTN):c.34947A>G (p.Glu11649=)
|
rs727504514
|
|
NM_001267550.2(TTN):c.3523+11C>G
|
rs397517569
|
|
NM_001267550.2(TTN):c.3523+9A>C
|
rs727503700
|
|
NM_001267550.2(TTN):c.35374C>T (p.Pro11792Ser)
|
rs727505111
|
|
NM_001267550.2(TTN):c.39212-9C>A
|
rs373056460
|
|
NM_001267550.2(TTN):c.39366G>A (p.Ala13122=)
|
rs769494020
|
|
NM_001267550.2(TTN):c.39477C>T (p.Pro13159=)
|
rs397517557
|
|
NM_001267550.2(TTN):c.39652T>C (p.Leu13218=)
|
rs727505145
|
|
NM_001267550.2(TTN):c.40634-15_40634-11del
|
rs375561641
|
|
NM_001267550.2(TTN):c.41253C>T (p.Ser13751=)
|
rs772643931
|
|
NM_001267550.2(TTN):c.429A>G (p.Glu143=)
|
rs878966869
|
|
NM_001267550.2(TTN):c.43761T>C (p.Tyr14587=)
|
rs397517574
|
|
NM_001267550.2(TTN):c.44014+15A>C
|
rs876657605
|
|
NM_001267550.2(TTN):c.44040C>A (p.Pro14680=)
|
rs397517575
|
|
NM_001267550.2(TTN):c.44937T>C (p.Ala14979=)
|
rs370413913
|
|
NM_001267550.2(TTN):c.45120T>C (p.Ile15040=)
|
rs74580375
|
|
NM_001267550.2(TTN):c.45606G>A (p.Leu15202=)
|
rs397517581
|
|
NM_001267550.2(TTN):c.46557T>G (p.Val15519=)
|
rs727503626
|
|
NM_001267550.2(TTN):c.46659C>G (p.Ala15553=)
|
rs876657606
|
|
NM_001267550.2(TTN):c.48843C>T (p.Thr16281=)
|
rs547682223
|
|
NM_001267550.2(TTN):c.50028G>A (p.Glu16676=)
|
rs727503621
|
|
NM_001267550.2(TTN):c.5052T>C (p.Tyr1684=)
|
rs727503694
|
|
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=)
|
rs876657607
|
|
NM_001267550.2(TTN):c.52230C>T (p.Asp17410=)
|
rs397517608
|
|
NM_001267550.2(TTN):c.52860A>G (p.Thr17620=)
|
rs397517611
|
|
NM_001267550.2(TTN):c.53002+10G>T
|
rs370352450
|
|
NM_001267550.2(TTN):c.54793G>A (p.Val18265Ile)
|
rs397517621
|
|
NM_001267550.2(TTN):c.55728G>A (p.Pro18576=)
|
rs727504598
|
|
NM_001267550.2(TTN):c.56679T>C (p.Val18893=)
|
rs397517625
|
|
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)
|
rs148299739
|
|
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)
|
rs200778464
|
|
NM_001267550.2(TTN):c.57786T>C (p.Asn19262=)
|
rs876657608
|
|
NM_001267550.2(TTN):c.58392T>C (p.Ser19464=)
|
rs876657609
|
|
NM_001267550.2(TTN):c.58728T>C (p.Arg19576=)
|
rs727504475
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
NM_001267550.2(TTN):c.58902T>C (p.His19634=)
|
rs397517639
|
|
NM_001267550.2(TTN):c.60180C>T (p.Leu20060=)
|
rs876657610
|
|
NM_001267550.2(TTN):c.60756A>G (p.Ile20252Met)
|
rs876657611
|
|
NM_001267550.2(TTN):c.61138C>T (p.Leu20380=)
|
rs201167216
|
|
NM_001267550.2(TTN):c.61761A>C (p.Thr20587=)
|
rs727505259
|
|
NM_001267550.2(TTN):c.63291T>C (p.Ile21097=)
|
rs397517653
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
NM_001267550.2(TTN):c.6375C>T (p.Tyr2125=)
|
rs2092122331
|
|
NM_001267550.2(TTN):c.64998A>G (p.Ala21666=)
|
rs876657612
|
|
NM_001267550.2(TTN):c.6508+14C>A
|
rs771328770
|
|
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)
|
rs397517660
|
|
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=)
|
rs727503579
|
|
NM_001267550.2(TTN):c.66681A>G (p.Gln22227=)
|
rs397517665
|
|
NM_001267550.2(TTN):c.6783T>A (p.Ile2261=)
|
rs876657614
|
|
NM_001267550.2(TTN):c.68379T>C (p.Ala22793=)
|
rs727503574
|
|
NM_001267550.2(TTN):c.69393C>G (p.Val23131=)
|
rs727504692
|
|
NM_001267550.2(TTN):c.69546A>G (p.Lys23182=)
|
rs876657613
|
|
NM_001267550.2(TTN):c.6981T>C (p.Asp2327=)
|
rs397517709
|
|
NM_001267550.2(TTN):c.70473A>G (p.Lys23491=)
|
rs397517685
|
|
NM_001267550.2(TTN):c.71952T>C (p.Phe23984=)
|
rs727504881
|
|
NM_001267550.2(TTN):c.72171A>G (p.Pro24057=)
|
rs397517692
|
|
NM_001267550.2(TTN):c.7242T>C (p.Ile2414=)
|
rs727503689
|
|
NM_001267550.2(TTN):c.73743C>A (p.Asp24581Glu)
|
rs727504603
|
|
NM_001267550.2(TTN):c.74181A>G (p.Val24727=)
|
rs374889737
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.75621A>C (p.Pro25207=)
|
rs1553603053
|
|
NM_001267550.2(TTN):c.77013T>C (p.Tyr25671=)
|
rs397517707
|
|
NM_001267550.2(TTN):c.77772C>T (p.Thr25924=)
|
rs727505107
|
|
NM_001267550.2(TTN):c.78711T>A (p.Ser26237=)
|
rs727504808
|
|
NM_001267550.2(TTN):c.80562G>A (p.Lys26854=)
|
rs397517717
|
|
NM_001267550.2(TTN):c.81612T>A (p.Gly27204=)
|
rs397517722
|
|
NM_001267550.2(TTN):c.82446C>T (p.Thr27482=)
|
rs768861950
|
|
NM_001267550.2(TTN):c.82605C>T (p.Thr27535=)
|
rs772246177
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
NM_001267550.2(TTN):c.87390T>A (p.Ile29130=)
|
rs876657616
|
|
NM_001267550.2(TTN):c.88009+13C>T
|
rs397517739
|
|
NM_001267550.2(TTN):c.8902+13_8902+14delinsGA
|
rs1553993564
|
|
NM_001267550.2(TTN):c.90129A>G (p.Thr30043=)
|
rs727504960
|
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
|
NM_001267550.2(TTN):c.92467G>A (p.Gly30823Ser)
|
rs727504934
|
|
NM_001267550.2(TTN):c.93367G>A (p.Val31123Ile)
|
rs202096200
|
|
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)
|
rs727505200
|
|
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)
|
rs572401798
|
|
NM_001267550.2(TTN):c.965G>A (p.Arg322Lys)
|
rs144557211
|
|
NM_001267550.2(TTN):c.97191T>G (p.Leu32397=)
|
rs397517767
|
|
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)
|
rs55704830
|
|
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=)
|
rs375361462
|
|
NM_001267550.2(TTN):c.99810C>T (p.Val33270=)
|
rs564536939
|
|
NM_001276345.2(TNNT2):c.199+14G>A
|
rs876657590
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.412-6_412-4del
|
rs397516462
|
|
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.719+13A>C
|
rs563883763
|
|
NM_001277115.2(DNAH11):c.12708T>C (p.Asn4236=)
|
rs775042712
|
|
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His)
|
rs727505321
|
|
NM_001286445.3(RIPOR2):c.2284A>G (p.Met762Val)
|
rs1295551353
|
|
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys)
|
rs145166802
|
|
NM_001289808.2(CRYAB):c.370A>G (p.Ile124Val)
|
rs876657444
|
|
NM_001289808.2(CRYAB):c.42C>T (p.Phe14=)
|
rs876657445
|
|
NM_001289808.2(CRYAB):c.510C>T (p.Thr170=)
|
rs147970333
|
|
NM_001292063.2(OTOG):c.1024C>T (p.Leu342=)
|
rs876657550
|
|
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr)
|
rs191354103
|
|
NM_001292063.2(OTOG):c.1455A>G (p.Thr485=)
|
rs1554968896
|
|
NM_001292063.2(OTOG):c.1563C>G (p.Pro521=)
|
rs749836896
|
|
NM_001292063.2(OTOG):c.16T>C (p.Ser6Pro)
|
rs773298682
|
|
NM_001292063.2(OTOG):c.2387T>C (p.Val796Ala)
|
rs1554970485
|
|
NM_001292063.2(OTOG):c.2487-5dup
|
rs562652501
|
|
NM_001292063.2(OTOG):c.2832C>T (p.Phe944=)
|
rs876657553
|
|
NM_001292063.2(OTOG):c.3939C>T (p.Ala1313=)
|
rs1554974304
|
|
NM_001292063.2(OTOG):c.395C>T (p.Ala132Val)
|
rs766172178
|
|
NM_001292063.2(OTOG):c.459G>T (p.Gly153=)
|
rs1554967816
|
|
NM_001292063.2(OTOG):c.4821G>A (p.Ser1607=)
|
rs369768224
|
|
NM_001292063.2(OTOG):c.5220A>C (p.Pro1740=)
|
rs959286824
|
|
NM_001292063.2(OTOG):c.527G>C (p.Ser176Thr)
|
rs876657556
|
|
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met)
|
rs572886375
|
|
NM_001292063.2(OTOG):c.7722C>A (p.Pro2574=)
|
rs1260956852
|
|
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His)
|
rs766229978
|
|
NM_001292063.2(OTOG):c.8298C>A (p.Pro2766=)
|
rs569159135
|
|
NM_001308093.3(GATA4):c.702G>A (p.Thr234=)
|
rs55788387
|
|
NM_001317778.2(SFTPC):c.42+14C>T
|
rs375113623
|
|
NM_001330.5(CTF1):c.102G>A (p.Ala34=)
|
rs727504837
|
|
NM_001354604.2(MITF):c.1050G>A (p.Lys350=)
|
rs201348324
|
|
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)
|
rs202020443
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001363118.2(SLC52A2):c.627T>G (p.Ala209=)
|
rs782019841
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
NM_001368067.1(LDB3):c.324G>T (p.Val108=)
|
rs397516556
|
|
NM_001368067.1(LDB3):c.327A>G (p.Val109=)
|
rs876657489
|
|
NM_001368067.1(LDB3):c.456G>T (p.Ala152=)
|
rs371708921
|
|
NM_001369.3(DNAH5):c.10545A>G (p.Lys3515=)
|
rs727502972
|
|
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)
|
rs151080414
|
|
NM_001369.3(DNAH5):c.2578-10_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)
|
rs876657454
|
|
NM_001376256.1(CRYM):c.279G>A (p.Gln93=)
|
rs876657446
|
|
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)
|
rs386789728
|
|
NM_001376256.1(CRYM):c.662C>T (p.Ala221Val)
|
rs876657447
|
|
NM_001377405.1(ATXN7):c.89AGC[12] (p.Gln38_Gln39dup)
|
rs193922929
|
|
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=)
|
rs1335438080
|
|
NM_001378454.1(ALMS1):c.10869G>C (p.Leu3623=)
|
rs775336312
|
|
NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=)
|
rs374508659
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.384A>G (p.Thr128=)
|
rs1671018024
|
|
NM_001378454.1(ALMS1):c.5496A>G (p.Arg1832=)
|
rs1572936704
|
|
NM_001378454.1(ALMS1):c.5602C>A (p.Leu1868Ile)
|
rs1553404102
|
|
NM_001378454.1(ALMS1):c.8122A>G (p.Met2708Val)
|
rs371904071
|
|
NM_001378454.1(ALMS1):c.8160C>T (p.His2720=)
|
rs992844961
|
|
NM_001378469.1(BRAF):c.1178-35T>C
|
rs397516887
|
|
NM_001378609.3(OTOGL):c.1077C>T (p.Cys359=)
|
rs876657559
|
|
NM_001378609.3(OTOGL):c.2391-12T>C
|
rs876657560
|
|
NM_001378609.3(OTOGL):c.4312A>G (p.Met1438Val)
|
rs1555298321
|
|
NM_001378609.3(OTOGL):c.4846C>A (p.Arg1616=)
|
rs536538111
|
|
NM_001379180.1(ESRRB):c.312C>A (p.Ile104=)
|
rs1555397494
|
|
NM_001384140.1(PCDH15):c.1784+11T>G
|
rs769008985
|
|
NM_001384140.1(PCDH15):c.1998-13G>A
|
rs727504616
|
|
NM_001384140.1(PCDH15):c.2721T>G (p.Pro907=)
|
rs727504835
|
|
NM_001384140.1(PCDH15):c.2769T>C (p.Pro923=)
|
rs727503366
|
|
NM_001384140.1(PCDH15):c.2859A>C (p.Ala953=)
|
rs375965861
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.3327T>C (p.Ala1109=)
|
rs1554871942
|
|
NM_001384140.1(PCDH15):c.3498G>A (p.Val1166=)
|
rs1554852336
|
|
NM_001384140.1(PCDH15):c.3585T>C (p.Phe1195=)
|
rs397517457
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.462C>T (p.Ala154=)
|
rs1344094704
|
|
NM_001384140.1(PCDH15):c.4671+1066_4671+1068del
|
rs1554815871
|
|
NM_001384474.1(LOXHD1):c.1134+11C>T
|
rs727503149
|
|
NM_001384474.1(LOXHD1):c.1134+12C>G
|
rs1555684960
|
|
NM_001384474.1(LOXHD1):c.1158T>G (p.Thr386=)
|
rs727503148
|
|
NM_001384474.1(LOXHD1):c.1170G>A (p.Gln390=)
|
rs876657492
|
|
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=)
|
rs368683058
|
|
NM_001384474.1(LOXHD1):c.1894G>A (p.Gly632Ser)
|
rs35088381
|
|
NM_001384474.1(LOXHD1):c.2251C>A (p.Arg751=)
|
rs376539851
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
NM_001384474.1(LOXHD1):c.3282C>T (p.Asp1094=)
|
rs1431897813
|
|
NM_001384474.1(LOXHD1):c.4212+14T>G
|
rs1555672903
|
|
NM_001384474.1(LOXHD1):c.4923G>A (p.Ala1641=)
|
rs761707142
|
|
NM_001384474.1(LOXHD1):c.5070C>A (p.Ile1690=)
|
rs1265155697
|
|
NM_001384474.1(LOXHD1):c.5911G>A (p.Asp1971Asn)
|
rs727504544
|
|
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser)
|
rs539278802
|
|
NM_001386795.1(DTNA):c.148+7A>G
|
rs397517445
|
|
NM_001386795.1(DTNA):c.1744-10G>A
|
rs192561043
|
|
NM_001386795.1(DTNA):c.1744-10G>T
|
rs192561043
|
|
NM_001386795.1(DTNA):c.1770C>A (p.Ser590=)
|
rs570093404
|
|
NM_001386795.1(DTNA):c.189G>A (p.Arg63=)
|
rs727505106
|
|
NM_001386795.1(DTNA):c.1971T>G (p.Ser657=)
|
rs199855849
|
|
NM_001426.4(EN1):c.228A>C (p.Pro76=)
|
rs749569923
|
|
NM_001614.5(ACTG1):c.1041C>T (p.Ala347=)
|
rs375903517
|
|
NM_001614.5(ACTG1):c.315G>A (p.Leu105=)
|
rs202094234
|
|
NM_001614.5(ACTG1):c.333C>T (p.Asn111=)
|
rs727502884
|
|
NM_001614.5(ACTG1):c.414C>T (p.Ala138=)
|
rs143978597
|
|
NM_001614.5(ACTG1):c.432C>T (p.Ala144=)
|
rs372748659
|
|
NM_001614.5(ACTG1):c.576C>T (p.Ile192=)
|
rs186443800
|
|
NM_001614.5(ACTG1):c.803-7C>T
|
rs150136833
|
|
NM_001614.5(ACTG1):c.985-5dup
|
rs782289893
|
|
NM_001614.5(ACTG1):c.996C>A (p.Pro332=)
|
rs200089021
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_001692.4(ATP6V1B1):c.904C>A (p.Arg302=)
|
rs876657431
|
|
NM_001927.4(DES):c.114G>T (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.1260C>T (p.Ile420=)
|
rs397516688
|
|
NM_001927.4(DES):c.1374C>T (p.Val458=)
|
rs727502952
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001927.4(DES):c.582G>A (p.Leu194=)
|
rs397516696
|
|
NM_001927.4(DES):c.639+13_639+15del
|
rs876657448
|
|
NM_001943.5(DSG2):c.1317T>C (p.Ser439=)
|
rs727505064
|
|
NM_001943.5(DSG2):c.1724A>G (p.Asn575Ser)
|
rs727502988
|
|
NM_001943.5(DSG2):c.2127T>C (p.His709=)
|
rs876657457
|
|
NM_001943.5(DSG2):c.216+14_216+15del
|
rs876657458
|
|
NM_001943.5(DSG2):c.291A>C (p.Pro97=)
|
rs727502983
|
|
NM_001943.5(DSG2):c.3198A>G (p.Glu1066=)
|
rs727504601
|
|
NM_001943.5(DSG2):c.474G>A (p.Val158=)
|
rs397516708
|
|
NM_001943.5(DSG2):c.618T>A (p.Ala206=)
|
rs397516710
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
NM_002109.6(HARS1):c.1047A>G (p.Glu349=)
|
rs1581504369
|
|
NM_002109.6(HARS1):c.174C>G (p.Thr58=)
|
rs761695061
|
|
NM_002139.4(RBMX):c.891A>G (p.Thr297=)
|
rs150079822
|
|
NM_002230.4(JUP):c.1159-13C>T
|
rs201627219
|
|
NM_002230.4(JUP):c.1497+14G>A
|
rs371853838
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
|
rs193922648
|
|
NM_002294.3(LAMP2):c.333T>C (p.Ile111=)
|
rs397516742
|
|
NM_002294.3(LAMP2):c.398-7T>C
|
rs876657483
|
|
NM_002294.3(LAMP2):c.672A>G (p.Ser224=)
|
rs397516746
|
|
NM_002294.3(LAMP2):c.855C>T (p.Val285=)
|
rs397516750
|
|
NM_002458.3(MUC5B):c.13124C>T (p.Ala4375Val)
|
rs201748966
|
|
NM_002458.3(MUC5B):c.13924A>G (p.Ile4642Val)
|
rs188444809
|
|
NM_002458.3(MUC5B):c.14491G>A (p.Ala4831Thr)
|
rs187205469
|
|
NM_002458.3(MUC5B):c.14586T>C (p.Gly4862=)
|
rs182667095
|
|
NM_002458.3(MUC5B):c.3198A>G (p.Ala1066=)
|
rs79118814
|
|
NM_002458.3(MUC5B):c.845C>A (p.Ala282Glu)
|
rs371465585
|
|
NM_002471.4(MYH6):c.1002+9G>A
|
rs727504680
|
|
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu)
|
rs61742472
|
|
NM_002471.4(MYH6):c.1131C>T (p.Asp377=)
|
rs61742472
|
|
NM_002471.4(MYH6):c.3369G>A (p.Glu1123=)
|
rs876657517
|
|
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=)
|
rs141062252
|
|
NM_002471.4(MYH6):c.4359+9T>C
|
rs568461360
|
|
NM_002471.4(MYH6):c.732C>T (p.Arg244=)
|
rs397516779
|
|
NM_002471.4(MYH6):c.799+14G>C
|
rs727505139
|
|
NM_002473.6(MYH9):c.1056C>T (p.Ile352=)
|
rs727504861
|
|
NM_002473.6(MYH9):c.1209G>A (p.Lys403=)
|
rs2017190244
|
|
NM_002473.6(MYH9):c.1260G>C (p.Ala420=)
|
rs369202401
|
|
NM_002473.6(MYH9):c.1843+12G>C
|
rs150539764
|
|
NM_002473.6(MYH9):c.2037+14G>T
|
rs727504713
|
|
NM_002473.6(MYH9):c.2766C>G (p.Ala922=)
|
rs727503288
|
|
NM_002473.6(MYH9):c.3876C>A (p.Ser1292=)
|
rs747334129
|
|
NM_002473.6(MYH9):c.4095+15G>A
|
rs876657522
|
|
NM_002473.6(MYH9):c.4716C>T (p.Asp1572=)
|
rs397516780
|
|
NM_002473.6(MYH9):c.4971C>G (p.Thr1657=)
|
rs876657523
|
|
NM_002473.6(MYH9):c.5286C>G (p.Ile1762Met)
|
rs1603482715
|
|
NM_002473.6(MYH9):c.5483+4C>T
|
rs56327920
|
|
NM_002473.6(MYH9):c.5484-13G>C
|
rs727505086
|
|
NM_002473.6(MYH9):c.5574C>T (p.Ala1858=)
|
rs991435881
|
|
NM_002473.6(MYH9):c.5592+11T>C
|
rs753626685
|
|
NM_002473.6(MYH9):c.5832C>T (p.Asp1944=)
|
rs761625286
|
|
NM_002473.6(MYH9):c.952A>G (p.Met318Val)
|
rs758951998
|
|
NM_002700.3(POU4F3):c.378G>T (p.Thr126=)
|
rs113137300
|
|
NM_002700.3(POU4F3):c.720C>T (p.Asn240=)
|
rs1581278744
|
|
NM_002700.3(POU4F3):c.96C>A (p.Arg32=)
|
rs1386856370
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
NM_002755.4(MAP2K1):c.292-4C>G
|
rs771407622
|
|
NM_002755.4(MAP2K1):c.569-8C>T
|
rs375614631
|
|
NM_002834.5(PTPN11):c.1380-4G>T
|
rs750640531
|
|
NM_002834.5(PTPN11):c.1448-5C>T
|
rs554790621
|
|
NM_002834.5(PTPN11):c.231G>A (p.Leu77=)
|
rs2038063935
|
|
NM_002834.5(PTPN11):c.315A>T (p.Ala105=)
|
rs397516804
|
|
NM_002834.5(PTPN11):c.519C>G (p.Arg173=)
|
rs767425313
|
|
NM_002834.5(PTPN11):c.624A>G (p.Thr208=)
|
rs864622409
|
|
NM_002834.5(PTPN11):c.831T>C (p.Asn277=)
|
rs876657567
|
|
NM_002880.3(RAF1):c.-340_-339GA[1]
|
rs527774250
|
|
NM_002880.4(RAF1):c.-204G>C
|
rs547543588
|
|
NM_002880.4(RAF1):c.-267G>A
|
rs116247741
|
|
NM_002880.4(RAF1):c.-298C>T
|
rs727504387
|
|
NM_002880.4(RAF1):c.1108+9_1108+21del
|
rs727504451
|
|
NM_002880.4(RAF1):c.1314C>T (p.Thr438=)
|
rs147547744
|
|
NM_002880.4(RAF1):c.1695T>C (p.Tyr565=)
|
rs397516817
|
|
NM_002880.4(RAF1):c.276A>G (p.Gln92=)
|
rs876657568
|
|
NM_002880.4(RAF1):c.834+8G>A
|
rs727504615
|
|
NM_002880.4(RAF1):c.876C>T (p.Ala292=)
|
rs397516831
|
|
NM_002906.4(RDX):c.1091-10T>C
|
rs876657572
|
|
NM_002906.4(RDX):c.1176G>A (p.Glu392=)
|
rs727505297
|
|
NM_002906.4(RDX):c.1341C>A (p.His447Gln)
|
rs727503393
|
|
NM_002906.4(RDX):c.1410C>A (p.Pro470=)
|
rs577555846
|
|
NM_002906.4(RDX):c.630T>C (p.Asn210=)
|
rs1555042471
|
|
NM_002906.4(RDX):c.97-19TGT[3]
|
rs532650829
|
|
NM_003036.4(SKI):c.1311C>G (p.Ala437=)
|
rs140889128
|
|
NM_003068.5(SNAI2):c.606A>G (p.Gly202=)
|
rs370952195
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.297A>G (p.Thr99=)
|
rs727504343
|
|
NM_003280.3(TNNC1):c.387G>C (p.Thr129=)
|
rs397516845
|
|
NM_003280.3(TNNC1):c.435C>T (p.Asp145=)
|
rs267607124
|
|
NM_003280.3(TNNC1):c.480G>A (p.Val160=)
|
rs727504896
|
|
NM_003476.5(CSRP3):c.219T>C (p.Tyr73=)
|
rs397516852
|
|
NM_003476.5(CSRP3):c.334G>C (p.Ala112Pro)
|
rs727504905
|
|
NM_003476.5(CSRP3):c.456G>A (p.Lys152=)
|
rs397516856
|
|
NM_003476.5(CSRP3):c.508+9T>C
|
rs727504517
|
|
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn)
|
rs779511911
|
|
NM_003673.4(TCAP):c.111-15dup
|
rs397516860
|
|
NM_003673.4(TCAP):c.346C>T (p.Leu116=)
|
rs876657586
|
|
NM_003803.4(MYOM1):c.1023-14G>A
|
rs372359086
|
|
NM_003803.4(MYOM1):c.1340-14del
|
rs554705715
|
|
NM_003803.4(MYOM1):c.1917C>T (p.Gly639=)
|
rs761762328
|
|
NM_003803.4(MYOM1):c.2506+15C>G
|
rs1272570164
|
|
NM_003803.4(MYOM1):c.2697A>C (p.Val899=)
|
rs771666952
|
|
NM_003803.4(MYOM1):c.3683-9C>T
|
rs1060504725
|
|
NM_003803.4(MYOM1):c.5045dup (p.Lys1683fs)
|
rs573184538
|
|
NM_004004.5(GJB2):c.[79G>A;341A>G]
|
|
|
NM_004004.6(GJB2):c.300T>C (p.His100=)
|
rs1317569039
|
|
NM_004004.6(GJB2):c.384C>T (p.Ile128=)
|
rs111033298
|
|
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly)
|
rs397516876
|
|
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser)
|
rs552275776
|
|
NM_004006.3(DMD):c.2827C>A (p.Arg943Ser)
|
rs199986217
|
|
NM_004006.3(DMD):c.7464G>A (p.Leu2488=)
|
rs1603464003
|
|
NM_004006.3(DMD):c.7653G>A (p.Thr2551=)
|
rs368803197
|
|
NM_004006.3(DMD):c.9564-6T>C
|
rs876657453
|
|
NM_004086.3(COCH):c.239+7C>G
|
rs377273539
|
|
NM_004086.3(COCH):c.239+80del
|
rs111033189
|
|
NM_004100.5(EYA4):c.1563G>A (p.Leu521=)
|
rs1583528788
|
|
NM_004100.5(EYA4):c.237A>G (p.Ala79=)
|
rs727504840
|
|
NM_004100.5(EYA4):c.744A>G (p.Ser248=)
|
rs397516879
|
|
NM_004230.4(S1PR2):c.1032C>T (p.Pro344=)
|
rs561751764
|
|
NM_004281.4(BAG3):c.111C>T (p.Pro37=)
|
rs397516880
|
|
NM_004281.4(BAG3):c.1344C>T (p.Asp448=)
|
rs727504796
|
|
NM_004281.4(BAG3):c.180+13C>T
|
rs727504938
|
|
NM_004316.4(ASCL1):c.151CAG[11] (p.Gln62del)
|
rs3832799
|
|
NM_004316.4(ASCL1):c.151CAG[14] (p.Gln62_Ala63insGlnGln)
|
rs3832799
|
|
NM_004333.6(BRAF):c.111G>A (p.Ser37=)
|
rs727502906
|
|
NM_004333.6(BRAF):c.1203C>T (p.Thr401=)
|
rs370130654
|
|
NM_004333.6(BRAF):c.1960T>C (p.Leu654=)
|
rs727502905
|
|
NM_004333.6(BRAF):c.1993-11dup
|
rs759069424
|
|
NM_004333.6(BRAF):c.2128-5del
|
rs373442098
|
|
NM_004333.6(BRAF):c.2128-6T>A
|
rs397516900
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
NM_004393.6(DAG1):c.2214C>T (p.Asp738=)
|
rs754599980
|
|
NM_004415.3(DSP):c.8487_8498del12
|
rs727504704
|
|
NM_004415.4(DSP):c.111C>A (p.Thr37=)
|
rs727502995
|
|
NM_004415.4(DSP):c.1263G>A (p.Leu421=)
|
rs727504492
|
|
NM_004415.4(DSP):c.1266+6G>T
|
rs73375345
|
|
NM_004415.4(DSP):c.1527G>T (p.Gly509=)
|
rs397516917
|
|
NM_004415.4(DSP):c.1680C>T (p.Ile560=)
|
rs397516920
|
|
NM_004415.4(DSP):c.3276G>C (p.Ser1092=)
|
rs202057409
|
|
NM_004415.4(DSP):c.3948T>C (p.Ala1316=)
|
rs1554108219
|
|
NM_004415.4(DSP):c.4245T>A (p.Thr1415=)
|
rs397516936
|
|
NM_004415.4(DSP):c.4371G>A (p.Met1457Ile)
|
rs1169630255
|
|
NM_004415.4(DSP):c.4455G>C (p.Arg1485Ser)
|
rs113902911
|
|
NM_004415.4(DSP):c.4515G>A (p.Ala1505=)
|
rs193197554
|
|
NM_004415.4(DSP):c.4899C>G (p.Leu1633=)
|
rs876657459
|
|
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)
|
rs727503004
|
|
NM_004415.4(DSP):c.6654C>G (p.Thr2218=)
|
rs727503005
|
|
NM_004415.4(DSP):c.7275C>G (p.Thr2425=)
|
rs727503006
|
|
NM_004415.4(DSP):c.741G>T (p.Ala247=)
|
rs2806234
|
|
NM_004415.4(DSP):c.7557G>A (p.Leu2519=)
|
rs397516957
|
|
NM_004415.4(DSP):c.7998C>G (p.Gly2666=)
|
rs397516960
|
|
NM_004415.4(DSP):c.8320C>T (p.Leu2774=)
|
rs397516964
|
|
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4])
|
rs397516967
|
|
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4])
|
rs397516968
|
|
NM_004415.4(DSP):c.8493G>A (p.Ser2831=)
|
rs397516969
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
NM_004415.4(DSP):c.8553C>T (p.Asp2851=)
|
rs1554109307
|
|
NM_004415.4(DSP):c.939+13dup
|
rs730880360
|
|
NM_004447.6(EPS8):c.2226-3del
|
rs35885542
|
|
NM_004447.6(EPS8):c.525A>G (p.Leu175=)
|
rs1945713991
|
|
NM_004568.6(SERPINB6):c.343C>G (p.Gln115Glu)
|
rs397516637
|
|
NM_004568.6(SERPINB6):c.941A>G (p.Lys314Arg)
|
rs876657582
|
|
NM_004577.4(PSPH):c.275+1del
|
rs139106189
|
|
NM_004612.4(TGFBR1):c.1387-4G>A
|
rs397517031
|
|
NM_004700.4(KCNQ4):c.1042-11dup
|
rs876657480
|
|
NM_004700.4(KCNQ4):c.1130+13G>T
|
rs1553167606
|
|
NM_004700.4(KCNQ4):c.699G>C (p.Ala233=)
|
rs727504788
|
|
NM_004700.4(KCNQ4):c.720C>G (p.Thr240=)
|
rs752131356
|
|
NM_004700.4(KCNQ4):c.834+12T>C
|
rs1031548085
|
|
NM_004817.4(TJP2):c.1521-7A>C
|
rs373242928
|
|
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu)
|
rs199852211
|
|
NM_004817.4(TJP2):c.2865G>A (p.Pro955=)
|
rs727503480
|
|
NM_004949.5(DSC2):c.630+8_630+10delinsTT
|
rs397517401
|
|
NM_004985.5(KRAS):c.-163AGC[3]
|
rs397517034
|
|
NM_004985.5(KRAS):c.-167A>G
|
rs527326817
|
|
NM_004985.5(KRAS):c.-54C>T
|
rs397517036
|
|
NM_004985.5(KRAS):c.33T>C (p.Ala11=)
|
rs397517039
|
|
NM_004985.5(KRAS):c.450+11C>G
|
rs727504633
|
|
NM_004985.5(KRAS):c.451-10T>C
|
rs876657481
|
|
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del)
|
rs397517043
|
|
NM_004999.4(MYO6):c.1473+10A>G
|
rs876657531
|
|
NM_004999.4(MYO6):c.1695G>C (p.Leu565=)
|
rs111033501
|
|
NM_004999.4(MYO6):c.2170G>C (p.Asp724His)
|
rs397517046
|
|
NM_004999.4(MYO6):c.2733T>C (p.Ser911=)
|
rs1554218577
|
|
NM_004999.4(MYO6):c.2972G>A (p.Arg991Gln)
|
rs529167250
|
|
NM_004999.4(MYO6):c.3207T>C (p.Ala1069=)
|
rs727505051
|
|
NM_004999.4(MYO6):c.3270T>C (p.Asn1090=)
|
rs139395133
|
|
NM_004999.4(MYO6):c.951T>C (p.Phe317=)
|
rs397517055
|
|
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=)
|
rs151321743
|
|
NM_005159.5(ACTC1):c.516T>C (p.Ala172=)
|
rs397517064
|
|
NM_005159.5(ACTC1):c.616+8T>C
|
rs397517066
|
|
NM_005159.5(ACTC1):c.798C>T (p.Pro266=)
|
rs397517068
|
|
NM_005159.5(ACTC1):c.918T>A (p.Thr306=)
|
rs397517074
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
NM_005188.4(CBL):c.1228-10dup
|
rs397517078
|
|
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)
|
rs397507494
|
|
NM_005188.4(CBL):c.1962A>G (p.Leu654=)
|
rs727502915
|
|
NM_005219.5(DIAPH1):c.1047C>T (p.Asp349=)
|
rs1554208916
|
|
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)
|
rs189809247
|
|
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=)
|
rs374236039
|
|
NM_005219.5(DIAPH1):c.2373C>T (p.Asp791=)
|
rs756608855
|
|
NM_005219.5(DIAPH1):c.3237C>T (p.Ala1079=)
|
rs777308371
|
|
NM_005219.5(DIAPH1):c.621-7T>C
|
rs727502963
|
|
NM_005228.5(EGFR):c.2166G>C (p.Ala722=)
|
rs367694667
|
|
NM_005228.5(EGFR):c.2232C>T (p.Ile744=)
|
rs397517093
|
|
NM_005228.5(EGFR):c.2310C>T (p.Asp770=)
|
rs397517110
|
|
NM_005228.5(EGFR):c.2340C>T (p.Ile780=)
|
rs397517121
|
|
NM_005228.5(EGFR):c.2349C>T (p.Thr783=)
|
rs397517122
|
|
NM_005228.5(EGFR):c.2409G>A (p.Arg803=)
|
rs397517123
|
|
NM_005228.5(EGFR):c.2439C>T (p.Tyr813=)
|
rs397517124
|
|
NM_005228.5(EGFR):c.2598G>A (p.Glu866=)
|
rs397517133
|
|
NM_005228.5(EGFR):c.2625+6G>T
|
rs397517135
|
|
NM_005228.5(EGFR):c.2775C>T (p.Ser925=)
|
rs727504306
|
|
NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly)
|
rs151187460
|
|
NM_005379.4(MYO1A):c.2238C>G (p.Ser746=)
|
rs140932379
|
|
NM_005379.4(MYO1A):c.2238C>T (p.Ser746=)
|
rs140932379
|
|
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg)
|
rs370617353
|
|
NM_005422.4(TECTA):c.2134G>C (p.Val712Leu)
|
rs876657587
|
|
NM_005422.4(TECTA):c.2199C>G (p.Ser733=)
|
rs397517145
|
|
NM_005422.4(TECTA):c.2271G>A (p.Lys757=)
|
rs369114054
|
|
NM_005422.4(TECTA):c.2308C>A (p.Arg770=)
|
rs727503458
|
|
NM_005422.4(TECTA):c.2740A>G (p.Ile914Val)
|
rs1303790601
|
|
NM_005422.4(TECTA):c.3375C>T (p.Ile1125=)
|
rs1946747020
|
|
NM_005422.4(TECTA):c.3898C>T (p.Leu1300=)
|
rs527881617
|
|
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)
|
rs148619105
|
|
NM_005422.4(TECTA):c.4263G>A (p.Leu1421=)
|
rs563775304
|
|
NM_005422.4(TECTA):c.4690-15T>C
|
rs727505055
|
|
NM_005422.4(TECTA):c.5955C>A (p.Thr1985=)
|
rs727503466
|
|
NM_005422.4(TECTA):c.888G>A (p.Glu296=)
|
rs876657588
|
|
NM_005422.4(TECTA):c.90A>T (p.Pro30=)
|
rs577470721
|
|
NM_005548.3(KARS1):c.159T>A (p.Ala53=)
|
rs1555513622
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
NM_005633.4(SOS1):c.2061G>A (p.Leu687=)
|
rs727504752
|
|
NM_005633.4(SOS1):c.21C>T (p.Pro7=)
|
rs727504845
|
|
NM_005633.4(SOS1):c.2775A>T (p.Pro925=)
|
rs397517160
|
|
NM_005633.4(SOS1):c.3369A>G (p.Gln1123=)
|
rs727503435
|
|
NM_005633.4(SOS1):c.3600C>T (p.Asp1200=)
|
rs141594736
|
|
NM_005633.4(SOS1):c.588A>T (p.Ser196=)
|
rs727504826
|
|
NM_005633.4(SOS1):c.597A>G (p.Gln199=)
|
rs397517175
|
|
NM_006005.3(WFS1):c.1194C>A (p.Gly398=)
|
rs143633587
|
|
NM_006005.3(WFS1):c.1261A>G (p.Ile421Val)
|
rs727503749
|
|
NM_006005.3(WFS1):c.128C>T (p.Ala43Val)
|
rs727503746
|
|
NM_006005.3(WFS1):c.1294C>T (p.Leu432=)
|
rs35031397
|
|
NM_006005.3(WFS1):c.1674C>G (p.Arg558=)
|
rs61735402
|
|
NM_006005.3(WFS1):c.1740G>A (p.Val580=)
|
rs749882923
|
|
NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp)
|
rs369107336
|
|
NM_006005.3(WFS1):c.2370G>C (p.Ser790=)
|
rs150936382
|
|
NM_006005.3(WFS1):c.2575C>A (p.Arg859=)
|
rs372298367
|
|
NM_006005.3(WFS1):c.2580C>T (p.His860=)
|
rs754802246
|
|
NM_006005.3(WFS1):c.630C>T (p.His210=)
|
rs144851092
|
|
NM_006005.3(WFS1):c.654C>T (p.Pro218=)
|
rs727504666
|
|
NM_006005.3(WFS1):c.831G>A (p.Lys277=)
|
rs532368033
|
|
NM_006005.3(WFS1):c.996C>T (p.Ile332=)
|
rs138674328
|
|
NM_006012.4(CLPP):c.-7_-6insCC
|
rs545353866
|
|
NM_006012.4(CLPP):c.684C>T (p.Arg228=)
|
rs876657442
|
|
NM_006073.4(TRDN):c.1511-14T>C
|
rs1252673540
|
|
NM_006073.4(TRDN):c.1597+10G>A
|
rs150165710
|
|
NM_006284.4(TAF10):c.*1756C>T
|
rs876657478
|
|
NM_006393.3(NEBL):c.1269A>G (p.Lys423=)
|
rs138932199
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
NM_006393.3(NEBL):c.2055+7C>A
|
rs368793318
|
|
NM_006393.3(NEBL):c.2475C>T (p.His825=)
|
rs727503334
|
|
NM_006393.3(NEBL):c.255T>C (p.Ser85=)
|
rs727504471
|
|
NM_006393.3(NEBL):c.2748G>T (p.Pro916=)
|
rs778128527
|
|
NM_006393.3(NEBL):c.480+10C>A
|
rs377230358
|
|
NM_007078.3(LDB3):c.1041C>T (p.Ser347=)
|
rs45555240
|
|
NM_007078.3(LDB3):c.1167C>T (p.Ala389=)
|
rs768844187
|
|
NM_007078.3(LDB3):c.1317C>T (p.Pro439=)
|
rs397517208
|
|
NM_007078.3(LDB3):c.144C>T (p.Leu48=)
|
rs397517213
|
|
NM_007078.3(LDB3):c.600C>T (p.Gly200=)
|
rs397517225
|
|
NM_007078.3(LDB3):c.690-4842G>T
|
rs113445294
|
|
NM_007078.3(LDB3):c.896+6669TC[11]
|
rs71019410
|
|
NM_007078.3(LDB3):c.896+6669TC[12]
|
rs71019410
|
|
NM_007078.3(LDB3):c.93+7G>T
|
rs397517229
|
|
NM_007373.4(SHOC2):c.-66A>G
|
rs397517230
|
|
NM_012144.4(DNAI1):c.1611C>T (p.Asp537=)
|
rs199502666
|
|
NM_012144.4(DNAI1):c.2002-5C>T
|
rs1587096958
|
|
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu)
|
rs200089613
|
|
NM_012208.4(HARS2):c.732+8_732+11del
|
rs766254601
|
|
NM_012208.4(HARS2):c.975G>C (p.Leu325=)
|
rs756782773
|
|
NM_013296.5(GPSM2):c.1063-4G>C
|
rs1570914167
|
|
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del)
|
rs145997327
|
|
NM_013296.5(GPSM2):c.624T>C (p.Leu208=)
|
rs1553211657
|
|
NM_013296.5(GPSM2):c.732A>G (p.Ala244=)
|
rs1553211713
|
|
NM_014000.3(VCL):c.1017T>C (p.Arg339=)
|
rs876657632
|
|
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg)
|
rs200342284
|
|
NM_014000.3(VCL):c.1275T>C (p.Pro425=)
|
rs397517233
|
|
NM_014000.3(VCL):c.1337C>G (p.Ala446Gly)
|
rs727504675
|
|
NM_014000.3(VCL):c.168+9G>T
|
rs997516030
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014000.3(VCL):c.874+9C>G
|
rs756064535
|
|
NM_014391.3(ANKRD1):c.145C>T (p.Leu49=)
|
rs1554827991
|
|
NM_014391.3(ANKRD1):c.154C>T (p.Pro52Ser)
|
rs397517248
|
|
NM_014391.3(ANKRD1):c.346-17_346-10del
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-18_346-9del
|
rs727502890
|
|
NM_014908.4(DOLK):c.1035A>G (p.Val345=)
|
rs876657455
|
|
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg)
|
rs574562542
|
|
NM_014908.4(DOLK):c.294G>A (p.Arg98=)
|
rs876657456
|
|
NM_015340.4(LARS2):c.1530G>A (p.Lys510=)
|
rs752585512
|
|
NM_015340.4(LARS2):c.1938C>T (p.Asn646=)
|
rs138012553
|
|
NM_015340.4(LARS2):c.2112G>A (p.Glu704=)
|
rs876657486
|
|
NM_015340.4(LARS2):c.2292+8G>T
|
rs876657488
|
|
NM_015340.4(LARS2):c.879C>T (p.Gly293=)
|
rs368510008
|
|
NM_015340.4(LARS2):c.945G>A (p.Ser315=)
|
rs145135580
|
|
NM_015404.4(WHRN):c.1158C>G (p.Asn386Lys)
|
rs397517253
|
|
NM_015404.4(WHRN):c.1251C>T (p.Ser417=)
|
rs1554719002
|
|
NM_015404.4(WHRN):c.1542G>A (p.Gly514=)
|
rs397517257
|
|
NM_015404.4(WHRN):c.1626+9C>A
|
rs727504908
|
|
NM_015404.4(WHRN):c.1824G>A (p.Gln608=)
|
rs755074681
|
|
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln)
|
rs727505188
|
|
NM_015404.4(WHRN):c.2455G>A (p.Val819Met)
|
rs1589057203
|
|
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)
|
rs150586098
|
|
NM_015404.4(WHRN):c.427T>C (p.Leu143=)
|
rs727502956
|
|
NM_015404.4(WHRN):c.744G>A (p.Ser248=)
|
rs397517259
|
|
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)
|
rs112033303
|
|
NM_016203.4(PRKAG2):c.1449T>C (p.Ala483=)
|
rs148632949
|
|
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)
|
rs141804012
|
|
NM_016203.4(PRKAG2):c.618G>T (p.Pro206=)
|
rs145827515
|
|
NM_016203.4(PRKAG2):c.685-8C>T
|
rs397517279
|
|
NM_016203.4(PRKAG2):c.720C>G (p.Ala240=)
|
rs752351250
|
|
NM_016203.4(PRKAG2):c.807G>A (p.Lys269=)
|
rs727504618
|
|
NM_016203.4(PRKAG2):c.837G>A (p.Lys279=)
|
rs876657566
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016203.4(PRKAG2):c.946+13G>C
|
rs727505059
|
|
NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=)
|
rs397517284
|
|
NM_016239.4(MYO15A):c.1149C>T (p.Gly383=)
|
rs746937331
|
|
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His)
|
rs200587502
|
|
NM_016239.4(MYO15A):c.3386G>A (p.Arg1129Gln)
|
rs1463824476
|
|
NM_016239.4(MYO15A):c.3498C>T (p.Pro1166=)
|
rs747533694
|
|
NM_016239.4(MYO15A):c.3866+12G>T
|
rs533500962
|
|
NM_016239.4(MYO15A):c.4038+7_4038+8del
|
rs1555542172
|
|
NM_016239.4(MYO15A):c.4039-15C>T
|
rs727503308
|
|
NM_016239.4(MYO15A):c.5007+15C>G
|
rs891826719
|
|
NM_016239.4(MYO15A):c.5217G>A (p.Val1739=)
|
rs2046358921
|
|
NM_016239.4(MYO15A):c.5958G>A (p.Glu1986=)
|
rs727504916
|
|
NM_016239.4(MYO15A):c.6932C>A (p.Ala2311Glu)
|
rs727503314
|
|
NM_016239.4(MYO15A):c.7254G>A (p.Gly2418=)
|
rs1265909514
|
|
NM_016239.4(MYO15A):c.7431G>A (p.Gln2477=)
|
rs876657527
|
|
NM_016239.4(MYO15A):c.7833G>A (p.Glu2611=)
|
rs727504816
|
|
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser)
|
rs200355614
|
|
NM_016239.4(MYO15A):c.8907C>T (p.Ala2969=)
|
rs727504611
|
|
NM_016239.4(MYO15A):c.9123C>G (p.Ser3041=)
|
rs876657528
|
|
NM_016239.4(MYO15A):c.9741C>A (p.Arg3247=)
|
rs752368160
|
|
NM_016239.4(MYO15A):c.9948+11G>A
|
rs200712715
|
|
NM_016366.3(CABP2):c.60C>G (p.Leu20=)
|
rs950724245
|
|
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser)
|
rs397517289
|
|
NM_016599.5(MYOZ2):c.84T>C (p.Asp28=)
|
rs397517292
|
|
NM_017433.5(MYO3A):c.1029A>G (p.Leu343=)
|
rs544012938
|
|
NM_017433.5(MYO3A):c.1038A>G (p.Leu346=)
|
rs727505229
|
|
NM_017433.5(MYO3A):c.1080G>A (p.Lys360=)
|
rs397517293
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=)
|
rs371741845
|
|
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=)
|
rs372169216
|
|
NM_017433.5(MYO3A):c.3842T>G (p.Phe1281Cys)
|
rs876657529
|
|
NM_017433.5(MYO3A):c.4088G>A (p.Arg1363Lys)
|
rs876657530
|
|
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=)
|
rs200154414
|
|
NM_017950.4(CCDC40):c.83A>G (p.Glu28Gly)
|
rs1555889343
|
|
NM_018139.3(DNAAF2):c.2212A>G (p.Met738Val)
|
rs727502965
|
|
NM_020297.4(ABCC9):c.1012-14del
|
rs727505105
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020297.4(ABCC9):c.3474-14C>T
|
rs876657429
|
|
NM_020297.4(ABCC9):c.420T>C (p.Tyr140=)
|
rs397517189
|
|
NM_020297.4(ABCC9):c.817-7del
|
rs193922684
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_021167.5(GATAD1):c.435+15_435+16del
|
rs876657464
|
|
NM_021167.5(GATAD1):c.436-13del
|
rs876657465
|
|
NM_021167.5(GATAD1):c.492G>A (p.Lys164=)
|
rs397517295
|
|
NM_022081.6(HPS4):c.1386C>G (p.Pro462=)
|
rs2087976511
|
|
NM_022081.6(HPS4):c.320G>T (p.Arg107Leu)
|
rs138885334
|
|
NM_022114.4(PRDM16):c.-14C>A
|
rs180925565
|
|
NM_022114.4(PRDM16):c.1983C>T (p.Ser661=)
|
rs764211215
|
|
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro)
|
rs371654192
|
|
NM_022114.4(PRDM16):c.3109+12G>C
|
rs200643126
|
|
NM_022124.6(CDH23):c.-45AGGCG[2]
|
rs71012280
|
|
NM_022124.6(CDH23):c.-45AGGCG[4]
|
rs71012280
|
|
NM_022124.6(CDH23):c.1089C>T (p.Val363=)
|
rs556135873
|
|
NM_022124.6(CDH23):c.1956C>T (p.Asn652=)
|
rs876657436
|
|
NM_022124.6(CDH23):c.2149A>G (p.Thr717Ala)
|
rs397517314
|
|
NM_022124.6(CDH23):c.2193G>C (p.Thr731=)
|
rs397517315
|
|
NM_022124.6(CDH23):c.2289+11_2289+12delinsCT
|
rs876657438
|
|
NM_022124.6(CDH23):c.2691C>T (p.Ala897=)
|
rs1452389958
|
|
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=)
|
rs377259987
|
|
NM_022124.6(CDH23):c.3486G>T (p.Gly1162=)
|
rs397517324
|
|
NM_022124.6(CDH23):c.4276G>A (p.Val1426Ile)
|
rs727505099
|
|
NM_022124.6(CDH23):c.4282A>G (p.Ile1428Val)
|
rs747559330
|
|
NM_022124.6(CDH23):c.429+9C>A
|
rs727505270
|
|
NM_022124.6(CDH23):c.4359+11G>T
|
rs12242607
|
|
NM_022124.6(CDH23):c.4902C>T (p.Phe1634=)
|
rs565823145
|
|
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5200G>A (p.Val1734Met)
|
rs397517335
|
|
NM_022124.6(CDH23):c.5712+9T>C
|
rs727504996
|
|
NM_022124.6(CDH23):c.572G>A (p.Arg191Gln)
|
rs372588663
|
|
NM_022124.6(CDH23):c.5988C>T (p.Ala1996=)
|
rs751701083
|
|
NM_022124.6(CDH23):c.6786C>T (p.Asp2262=)
|
rs876657440
|
|
NM_022124.6(CDH23):c.6846C>T (p.Asn2282=)
|
rs727502929
|
|
NM_022124.6(CDH23):c.6927C>T (p.Ala2309=)
|
rs765133274
|
|
NM_022124.6(CDH23):c.7056G>A (p.Gly2352=)
|
rs1589428423
|
|
NM_022124.6(CDH23):c.7161T>C (p.Pro2387=)
|
rs727504990
|
|
NM_022124.6(CDH23):c.7671T>C (p.His2557=)
|
rs1408981265
|
|
NM_022124.6(CDH23):c.7806C>T (p.Ile2602=)
|
rs1554876358
|
|
NM_022124.6(CDH23):c.8574C>T (p.Asp2858=)
|
rs572176102
|
|
NM_022124.6(CDH23):c.8723-4G>A
|
rs397517360
|
|
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)
|
rs727503069
|
|
NM_024334.3(TMEM43):c.147A>G (p.Leu49=)
|
rs727504629
|
|
NM_024334.3(TMEM43):c.297+13G>A
|
rs397517381
|
|
NM_024334.3(TMEM43):c.399C>T (p.Tyr133=)
|
rs876657589
|
|
NM_024334.3(TMEM43):c.51T>G (p.Val17=)
|
rs397517383
|
|
NM_024422.6(DSC2):c.70-11del
|
rs572309510
|
|
NM_024422.6(DSC2):c.702G>A (p.Glu234=)
|
rs397517402
|
|
NM_024422.6(DSC2):c.942+16A>T
|
rs111347888
|
|
NM_024747.6(HPS6):c.150G>A (p.Gly50=)
|
rs727503091
|
|
NM_030662.4(MAP2K2):c.-27CCG[6]
|
rs397517411
|
|
NM_030662.4(MAP2K2):c.174C>T (p.Leu58=)
|
rs876657504
|
|
NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala)
|
rs397517415
|
|
NM_030662.4(MAP2K2):c.564C>T (p.His188=)
|
rs546749336
|
|
NM_030662.4(MAP2K2):c.658A>G (p.Ile220Val)
|
rs727504363
|
|
NM_030662.4(MAP2K2):c.705+11G>A
|
rs202086678
|
|
NM_030662.4(MAP2K2):c.834C>A (p.Ile278=)
|
rs766540227
|
|
NM_031475.3(ESPN):c.1049C>G (p.Pro350Arg)
|
rs143645714
|
|
NM_031475.3(ESPN):c.1192+8T>C
|
rs876657461
|
|
NM_031475.3(ESPN):c.2253C>G (p.Pro751=)
|
rs371034506
|
|
NM_031475.3(ESPN):c.2253C>T (p.Pro751=)
|
rs371034506
|
|
NM_031475.3(ESPN):c.2502G>A (p.Glu834=)
|
rs1644131182
|
|
NM_032119.4(ADGRV1):c.10161+9C>A
|
rs537317888
|
|
NM_032119.4(ADGRV1):c.10214G>A (p.Arg3405Gln)
|
rs727504728
|
|
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn)
|
rs727504607
|
|
NM_032119.4(ADGRV1):c.12121-13T>C
|
rs727503079
|
|
NM_032119.4(ADGRV1):c.12654T>C (p.Ile4218=)
|
rs876657470
|
|
NM_032119.4(ADGRV1):c.12989G>A (p.Arg4330Lys)
|
rs532605331
|
|
NM_032119.4(ADGRV1):c.13364G>A (p.Ser4455Asn)
|
rs727503081
|
|
NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe)
|
rs727503082
|
|
NM_032119.4(ADGRV1):c.14043+8T>C
|
rs727503083
|
|
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=)
|
rs727504605
|
|
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu)
|
rs201747452
|
|
NM_032119.4(ADGRV1):c.15855A>G (p.Leu5285=)
|
rs727505154
|
|
NM_032119.4(ADGRV1):c.15G>C (p.Leu5=)
|
rs973537840
|
|
NM_032119.4(ADGRV1):c.16098C>T (p.Gly5366=)
|
rs876657471
|
|
NM_032119.4(ADGRV1):c.1623T>C (p.Phe541=)
|
rs1580513065
|
|
NM_032119.4(ADGRV1):c.16845C>A (p.Ala5615=)
|
rs1765358320
|
|
NM_032119.4(ADGRV1):c.17184T>C (p.Thr5728=)
|
rs727503085
|
|
NM_032119.4(ADGRV1):c.18195T>C (p.Ala6065=)
|
rs542501546
|
|
NM_032119.4(ADGRV1):c.2292A>G (p.Leu764=)
|
rs1580561562
|
|
NM_032119.4(ADGRV1):c.5337T>C (p.Phe1779=)
|
rs755537414
|
|
NM_032119.4(ADGRV1):c.5460G>A (p.Arg1820=)
|
rs876657473
|
|
NM_032119.4(ADGRV1):c.5568C>T (p.Ala1856=)
|
rs727504772
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)
|
rs41303352
|
|
NM_032119.4(ADGRV1):c.6382C>A (p.Arg2128=)
|
rs727504561
|
|
NM_032119.4(ADGRV1):c.640G>A (p.Val214Ile)
|
rs876657474
|
|
NM_032119.4(ADGRV1):c.6648G>T (p.Gly2216=)
|
rs767618412
|
|
NM_032119.4(ADGRV1):c.7176C>G (p.Ser2392=)
|
rs111033452
|
|
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=)
|
rs556164327
|
|
NM_032119.4(ADGRV1):c.8127A>G (p.Thr2709=)
|
rs1469847535
|
|
NM_032119.4(ADGRV1):c.8198G>T (p.Arg2733Leu)
|
rs749383906
|
|
NM_032119.4(ADGRV1):c.8300C>T (p.Thr2767Ile)
|
rs1554088550
|
|
NM_032119.4(ADGRV1):c.9255C>G (p.Phe3085Leu)
|
rs727503077
|
|
NM_032229.3(SLITRK6):c.769A>G (p.Ile257Val)
|
rs1874698672
|
|
NM_032578.4(MYPN):c.2028A>G (p.Gln676=)
|
rs876657537
|
|
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser)
|
rs201534861
|
|
NM_033056.4(PCDH15):c.4568G>A (p.Ser1523Asn)
|
rs1377421029
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)
|
rs373916538
|
|
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del)
|
rs1554820012
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del)
|
rs397517467
|
|
NM_033056.4(PCDH15):c.5346T>A (p.Ser1782=)
|
rs397517468
|
|
NM_033056.4(PCDH15):c.5349T>G (p.Pro1783=)
|
rs727505113
|
|
NM_033056.4(PCDH15):c.5352T>A (p.Pro1784=)
|
rs727505100
|
|
NM_033056.4(PCDH15):c.5424A>C (p.Pro1808=)
|
rs753289924
|
|
NM_033118.4(MYLK2):c.1659C>G (p.Arg553=)
|
rs727504624
|
|
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu)
|
rs727505328
|
|
NM_033118.4(MYLK2):c.340G>A (p.Glu114Lys)
|
rs727503303
|
|
NM_033380.3(COL4A5):c.2109C>T (p.Ile703=)
|
rs369092053
|
|
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly)
|
rs768580195
|
|
NM_033409.4(SLC52A3):c.*13C>A
|
rs768028308
|
|
NM_033409.4(SLC52A3):c.1263G>T (p.Leu421=)
|
rs1599955750
|
|
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=)
|
rs574008733
|
|
NM_057176.3(BSND):c.810C>T (p.Tyr270=)
|
rs1451582678
|
|
NM_057176.3(BSND):c.951C>A (p.Asp317Glu)
|
rs876657432
|
|
NM_080680.3(COL11A2):c.2529+13del
|
rs763299239
|
|
NM_080680.3(COL11A2):c.2584-5del
|
rs555657704
|
|
NM_080680.3(COL11A2):c.2629-15dup
|
rs727502942
|
|
NM_080680.3(COL11A2):c.3531A>G (p.Gly1177=)
|
rs530771165
|
|
NM_080680.3(COL11A2):c.799-13C>T
|
rs876657443
|
|
NM_080680.3(COL11A2):c.799-4C>A
|
rs111227109
|
|
NM_080680.3(COL11A2):c.966C>A (p.Pro322=)
|
rs147527758
|
|
NM_133261.3(GIPC3):c.381G>A (p.Thr127=)
|
rs766652884
|
|
NM_133261.3(GIPC3):c.576G>A (p.Gln192=)
|
rs727504632
|
|
NM_133261.3(GIPC3):c.66C>T (p.Pro22=)
|
rs1269578352
|
|
NM_133261.3(GIPC3):c.69G>A (p.Ala23=)
|
rs150473323
|
|
NM_133261.3(GIPC3):c.69G>C (p.Ala23=)
|
rs150473323
|
|
NM_133261.3(GIPC3):c.787+5G>C
|
rs876657816
|
|
NM_133261.3(GIPC3):c.821C>T (p.Ala274Val)
|
rs149028750
|
|
NM_133338.3(RAD17):c.1593A>G (p.Ala531=)
|
rs1060499892
|
|
NM_133379.5(TTN):c.11925G>A (p.Val3975=)
|
rs562072193
|
|
NM_133379.5(TTN):c.13221G>A (p.Lys4407=)
|
rs529300203
|
|
NM_133379.5(TTN):c.14493C>T (p.Cys4831=)
|
rs876657620
|
|
NM_133379.5(TTN):c.14688T>C (p.Thr4896=)
|
rs727503666
|
|
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])
|
rs397517815
|
|
NM_133379.5(TTN):c.15606C>T (p.Phe5202=)
|
rs138122578
|
|
NM_133379.5(TTN):c.15660A>G (p.Lys5220=)
|
rs876657621
|
|
NM_133379.5(TTN):c.16584T>C (p.Gly5528=)
|
rs876657622
|
|
NM_138691.3(TMC1):c.1567-4A>G
|
rs369562300
|
|
NM_138691.3(TMC1):c.951C>G (p.Val317=)
|
rs1588083627
|
|
NM_144573.4(NEXN):c.1773A>G (p.Thr591=)
|
rs727503345
|
|
NM_144573.4(NEXN):c.1887A>G (p.Gln629=)
|
rs727503346
|
|
NM_144573.4(NEXN):c.299-14del
|
rs397517855
|
|
NM_144672.4(OTOA):c.1104+12G>C
|
rs143853515
|
|
NM_144672.4(OTOA):c.1105-10C>T
|
rs727503349
|
|
NM_144672.4(OTOA):c.1500G>C (p.Ala500=)
|
rs199908646
|
|
NM_147196.3(TMIE):c.123G>A (p.Pro41=)
|
rs765221463
|
|
NM_147196.3(TMIE):c.388_391delinsG (p.Lys130_Lys131delinsGlu)
|
rs397517868
|
|
NM_147196.3(TMIE):c.390G>A (p.Lys130=)
|
rs1472645388
|
|
NM_152559.3(METTL27):c.389-13CA[7]
|
rs375025208
|
|
NM_152594.3(SPRED1):c.1110C>G (p.Leu370=)
|
rs876657584
|
|
NM_153676.4(USH1C):c.1413+13C>T
|
rs876657623
|
|
NM_153676.4(USH1C):c.1548G>C (p.Pro516=)
|
rs780428813
|
|
NM_153676.4(USH1C):c.1767C>T (p.Ser589=)
|
rs770217616
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_153676.4(USH1C):c.2046C>T (p.Gly682=)
|
rs1554955894
|
|
NM_153676.4(USH1C):c.248+7_248+20del
|
rs749047869
|
|
NM_153676.4(USH1C):c.264G>A (p.Val88=)
|
rs397517879
|
|
NM_153676.4(USH1C):c.2655+12G>A
|
rs727504552
|
|
NM_153676.4(USH1C):c.7C>A (p.Arg3=)
|
rs876657624
|
|
NM_153676.4(USH1C):c.909G>T (p.Arg303=)
|
rs1850478673
|
|
NM_153700.2(STRC):c.2016A>G (p.Leu672=)
|
rs62018893
|
|
NM_153700.2(STRC):c.2172T>C (p.Val724=)
|
rs1308469405
|
|
NM_153700.2(STRC):c.3681+11G>A
|
rs796781098
|
|
NM_153700.2(STRC):c.4077G>A (p.Glu1359=)
|
rs1555447174
|
|
NM_153700.2(STRC):c.4702-3del
|
rs371263304
|
|
NM_153700.2(STRC):c.694A>G (p.Lys232Glu)
|
rs876657585
|
|
NM_170682.4(P2RX2):c.1257A>C (p.Ser419=)
|
rs876657561
|
|
NM_170682.4(P2RX2):c.457+9G>A
|
rs200457240
|
|
NM_170707.4(LMNA):c.1122C>T (p.His374=)
|
rs143715750
|
|
NM_170707.4(LMNA):c.1242C>T (p.Ser414=)
|
rs184946451
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1770C>G (p.Thr590=)
|
rs397517896
|
|
NM_170707.4(LMNA):c.198T>C (p.Ser66=)
|
rs397517899
|
|
NM_170707.4(LMNA):c.261T>C (p.Asp87=)
|
rs397517900
|
|
NM_170707.4(LMNA):c.346C>T (p.Leu116=)
|
rs876657491
|
|
NM_170707.4(LMNA):c.486G>A (p.Leu162=)
|
rs727503135
|
|
NM_170707.4(LMNA):c.810+13G>A
|
rs11264444
|
|
NM_173477.5(USH1G):c.594C>T (p.His198=)
|
rs727503713
|
|
NM_173477.5(USH1G):c.84C>T (p.Pro28=)
|
rs397517929
|
|
NM_174878.3(CLRN1):c.243T>C (p.Phe81=)
|
rs397517931
|
|
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser)
|
rs138707536
|
|
NM_178335.3(CCDC50):c.749A>G (p.Glu250Gly)
|
rs727502916
|
|
NM_178425.4(HDAC9):c.2286C>T (p.Ile762=)
|
rs1060499865
|
|
NM_178452.6(DNAAF1):c.864-17_864-14del
|
rs141073777
|
|
NM_181458.4(PAX3):c.378G>A (p.Pro126=)
|
rs553884686
|
|
NM_181458.4(PAX3):c.508G>A (p.Ala170Thr)
|
rs1553592728
|
|
NM_182548.4(LHFPL5):c.525C>A (p.Ile175=)
|
rs557741915
|
|
NM_194248.3(OTOF):c.1205+3G>A
|
rs727503360
|
|
NM_194248.3(OTOF):c.1365C>T (p.Tyr455=)
|
rs572162678
|
|
NM_194248.3(OTOF):c.1413G>A (p.Lys471=)
|
rs769723512
|
|
NM_194248.3(OTOF):c.1446C>T (p.Val482=)
|
rs749138873
|
|
NM_194248.3(OTOF):c.1803+11A>G
|
rs372583354
|
|
NM_194248.3(OTOF):c.2037C>T (p.Ala679=)
|
rs397517937
|
|
NM_194248.3(OTOF):c.2074C>A (p.Arg692=)
|
rs765368301
|
|
NM_194248.3(OTOF):c.2215-16C>T
|
rs752279476
|
|
NM_194248.3(OTOF):c.2316-4C>A
|
rs727503358
|
|
NM_194248.3(OTOF):c.3288+8T>C
|
rs876657549
|
|
NM_194248.3(OTOF):c.3303G>A (p.Gly1101=)
|
rs727505304
|
|
NM_194248.3(OTOF):c.3363C>T (p.Pro1121=)
|
rs745957247
|
|
NM_194248.3(OTOF):c.3507G>A (p.Ser1169=)
|
rs111033513
|
|
NM_194248.3(OTOF):c.3628C>A (p.Arg1210=)
|
rs397517945
|
|
NM_194248.3(OTOF):c.3870T>C (p.Ser1290=)
|
rs777658929
|
|
NM_194248.3(OTOF):c.4290C>T (p.Asn1430=)
|
rs566846495
|
|
NM_194248.3(OTOF):c.4401C>T (p.Asp1467=)
|
rs138500783
|
|
NM_194248.3(OTOF):c.4878C>T (p.Asp1626=)
|
rs397517947
|
|
NM_194248.3(OTOF):c.4995G>C (p.Leu1665=)
|
rs111033371
|
|
NM_194248.3(OTOF):c.5817G>T (p.Arg1939=)
|
rs397517950
|
|
NM_194248.3(OTOF):c.5868C>T (p.Tyr1956=)
|
rs727504937
|
|
NM_194248.3(OTOF):c.5922G>A (p.Leu1974=)
|
rs111033372
|
|
NM_194248.3(OTOF):c.780G>A (p.Val260=)
|
rs151306930
|
|
NM_194248.3(OTOF):c.97C>A (p.Arg33=)
|
rs150867836
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198999.3(SLC26A5):c.89A>G (p.Glu30Gly)
|
rs727504456
|
|
NM_199242.3(UNC13D):c.2340C>G (p.Gly780=)
|
rs556654678
|
|
NM_203447.4(DOCK8):c.5481T>C (p.His1827=)
|
rs1554708887
|
|
NM_206883.2(SLC26A5):c.292+8_292+9dup
|
rs112791865
|
|
NM_206933.4(USH2A):c.10224A>G (p.Glu3408=)
|
rs1553261931
|
|
NM_206933.4(USH2A):c.1027T>G (p.Ser343Ala)
|
rs397517965
|
|
NM_206933.4(USH2A):c.10398C>G (p.Leu3466=)
|
rs563370514
|
|
NM_206933.4(USH2A):c.10656T>C (p.Ser3552=)
|
rs727503719
|
|
NM_206933.4(USH2A):c.10740+7G>C
|
rs201206110
|
|
NM_206933.4(USH2A):c.10749A>C (p.Ala3583=)
|
rs747834026
|
|
NM_206933.4(USH2A):c.11389+15del
|
rs397517972
|
|
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu)
|
rs35309576
|
|
NM_206933.4(USH2A):c.12462T>C (p.Pro4154=)
|
rs727503717
|
|
NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu)
|
rs375223901
|
|
NM_206933.4(USH2A):c.1299T>C (p.Pro433=)
|
rs1571702060
|
|
NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile)
|
rs111033500
|
|
NM_206933.4(USH2A):c.13808A>G (p.His4603Arg)
|
rs727504551
|
|
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)
|
rs397517987
|
|
NM_206933.4(USH2A):c.14332G>T (p.Ala4778Ser)
|
rs727504637
|
|
NM_206933.4(USH2A):c.14838G>T (p.Val4946=)
|
rs949583594
|
|
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=)
|
rs397517993
|
|
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=)
|
rs397517998
|
|
NM_206933.4(USH2A):c.15321C>T (p.Pro5107=)
|
rs397518000
|
|
NM_206933.4(USH2A):c.15501G>A (p.Met5167Ile)
|
rs397518001
|
|
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
|
rs727505155
|
|
NM_206933.4(USH2A):c.1722T>G (p.Pro574=)
|
rs397518002
|
|
NM_206933.4(USH2A):c.2007T>A (p.Ser669=)
|
rs876657625
|
|
NM_206933.4(USH2A):c.2732C>A (p.Thr911Asn)
|
rs397518006
|
|
NM_206933.4(USH2A):c.2775T>C (p.Asn925=)
|
rs779331611
|
|
NM_206933.4(USH2A):c.2829C>A (p.Gly943=)
|
rs397518007
|
|
NM_206933.4(USH2A):c.2880T>C (p.Asn960=)
|
rs151177516
|
|
NM_206933.4(USH2A):c.3942A>G (p.Glu1314=)
|
rs876657626
|
|
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=)
|
rs727503733
|
|
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=)
|
rs727503729
|
|
NM_206933.4(USH2A):c.5373G>C (p.Leu1791=)
|
rs876657628
|
|
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=)
|
rs727503726
|
|
NM_206933.4(USH2A):c.6114T>C (p.Ala2038=)
|
rs1052386893
|
|
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)
|
rs397518025
|
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
|
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=)
|
rs876657629
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.687C>A (p.Gly229=)
|
rs766740504
|
|
NM_206933.4(USH2A):c.7194C>T (p.Leu2398=)
|
rs1269441158
|
|
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=)
|
rs577063450
|
|
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His)
|
rs189748047
|
|
NM_206933.4(USH2A):c.8244C>T (p.Leu2748=)
|
rs111033506
|
|
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=)
|
rs753719500
|
|
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=)
|
rs397518040
|
|
NM_206933.4(USH2A):c.870T>A (p.Ser290=)
|
rs876657630
|
|
NM_206933.4(USH2A):c.8801G>C (p.Ser2934Thr)
|
rs1664489826
|
|
NM_206933.4(USH2A):c.8845+9G>C
|
rs748060796
|
|
NM_206933.4(USH2A):c.9278A>T (p.Tyr3093Phe)
|
rs397518045
|
|
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=)
|
rs876657631
|
|
NM_206933.4(USH2A):c.9621T>C (p.Cys3207=)
|
rs727505296
|
|
NM_206933.4(USH2A):c.9636C>T (p.Ile3212=)
|
rs397518049
|
|
NM_207034.3(EDN3):c.342C>T (p.Asp114=)
|
rs1272021123
|
|
NM_207034.3(EDN3):c.504C>T (p.Ala168=)
|
rs1600756985
|
|
m.1193T>C
|
rs111033321
|
|
m.1211G>A
|
rs397515725
|
|
m.1310C>T
|
rs111033354
|
|
m.1442G>A
|
rs28358573
|
|
m.7471C>T
|
rs397515726
|
|
m.7476C>T
|
rs201950015
|
|
m.951G>A
|
rs200887992
|
|
m.958_960dupCCC
|
rs111033185
|
|
m.960_961insC
|
rs111033185
|
|
m.960delC
|
rs111033185
|
|
m.961T>G
|
rs3888511
|
|
m.980T>C
|
rs397515731
|
|