NM_001371928.1(AHDC1):c.100A>C (p.Thr34Pro)
|
rs758473342
|
0.32198
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val)
|
rs12994774
|
0.09975
|
NM_000569.8(FCGR3A):c.197T>A (p.Leu66His)
|
rs10127939
|
0.04855
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_177438.3(DICER1):c.-45-4405C>T
|
rs140969547
|
0.01032
|
NM_024867.4(SPEF2):c.3802-8G>A
|
rs138022749
|
0.00682
|
NM_024867.4(SPEF2):c.1262G>A (p.Arg421His)
|
rs139580877
|
0.00656
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)
|
rs139512218
|
0.00510
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg)
|
rs56314834
|
0.00406
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_181078.3(IL21R):c.137C>T (p.Thr46Met)
|
rs137946070
|
0.00360
|
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)
|
rs113861754
|
0.00355
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
|
rs144983062
|
0.00347
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)
|
rs113298164
|
0.00299
|
NM_004985.5(KRAS):c.-178C>A
|
rs190218019
|
0.00296
|
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
|
rs147390654
|
0.00294
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys)
|
rs112892337
|
0.00217
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)
|
rs565866662
|
0.00212
|
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00211
|
NM_001105206.3(LAMA4):c.195+131C>G
|
rs138579810
|
0.00210
|
NM_000441.1(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_013390.3(CEMIP2):c.491A>T (p.Asp164Val)
|
rs146439095
|
0.00207
|
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
|
rs121909352
|
0.00200
|
NM_001330691.3(CEP78):c.1846-1G>C
|
rs146563928
|
0.00193
|
NM_198488.5(FAM83H):c.601C>T (p.Gln201Ter)
|
rs189033490
|
0.00189
|
NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427
|
0.00183
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val)
|
rs397516635
|
0.00180
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn)
|
rs200592310
|
0.00176
|
NM_005450.6(NOG):c.275G>A (p.Gly92Glu)
|
rs199566527
|
0.00175
|
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp)
|
rs148671332
|
0.00172
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)
|
rs45592239
|
0.00170
|
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu)
|
rs142620954
|
0.00165
|
NM_001232.4(CASQ2):c.421-14G>A
|
rs139281637
|
0.00159
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg)
|
rs183969516
|
0.00158
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp)
|
rs144030074
|
0.00147
|
NM_144991.3(TSPEAR):c.1566+5G>A
|
rs117034581
|
0.00147
|
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)
|
rs148701985
|
0.00146
|
NM_004817.4(TJP2):c.61-6A>T
|
rs200415824
|
0.00145
|
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)
|
rs767328866
|
0.00145
|
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)
|
rs202040332
|
0.00144
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
NM_001089.3(ABCA3):c.839G>A (p.Arg280His)
|
rs143008553
|
0.00141
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
NM_003002.4(SDHD):c.*822T>C
|
rs201472512
|
0.00133
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_005992.1(TBX1):c.1010-3495C>T
|
rs72646973
|
0.00124
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro)
|
rs111748421
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)
|
rs764467903
|
0.00110
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)
|
rs201065230
|
0.00109
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00109
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)
|
rs35090700
|
0.00107
|
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)
|
rs140948493
|
0.00107
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_201253.3(CRB1):c.484G>A (p.Val162Met)
|
rs137853138
|
0.00106
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile)
|
rs149001418
|
0.00104
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
0.00103
|
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly)
|
rs370149278
|
0.00103
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_006785.4(MALT1):c.-35G>A
|
rs545006385
|
0.00102
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_021167.5(GATAD1):c.96T>G (p.His32Gln)
|
rs532003876
|
0.00099
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00097
|
NM_017837.4(PIGV):c.349A>G (p.Ile117Val)
|
rs142192097
|
0.00097
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly)
|
rs145142157
|
0.00096
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr)
|
rs149941106
|
0.00095
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala)
|
rs146511800
|
0.00094
|
NM_002003.5(FCN1):c.802T>C (p.Ser268Pro)
|
rs150625869
|
0.00093
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
NM_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00091
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_002458.3(MUC5B):c.12581G>C (p.Ser4194Thr)
|
rs201822010
|
0.00089
|
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys)
|
rs116833707
|
0.00089
|
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)
|
rs139790668
|
0.00088
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_001372106.1(DNAH10):c.901G>A (p.Ala301Thr)
|
rs145614363
|
0.00088
|
NM_001379180.1(ESRRB):c.*1546C>T
|
rs201448899
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu)
|
rs369865672
|
0.00087
|
NM_003764.4(STX11):c.616G>A (p.Glu206Lys)
|
rs145347140
|
0.00086
|
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys)
|
rs183851734
|
0.00086
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875
|
0.00086
|
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe)
|
rs138153104
|
0.00086
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00085
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln)
|
rs727503449
|
0.00085
|
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)
|
rs145680314
|
0.00085
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn)
|
rs189910531
|
0.00084
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile)
|
rs182125538
|
0.00083
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu)
|
rs185011953
|
0.00081
|
NM_001292063.2(OTOG):c.385G>A (p.Val129Met)
|
rs552304627
|
0.00081
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_002473.6(MYH9):c.*8C>T
|
rs201455315
|
0.00081
|
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)
|
rs142284613
|
0.00081
|
NM_005932.4(MIPEP):c.590T>C (p.Leu197Pro)
|
rs150167906
|
0.00080
|
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
|
rs139287714
|
0.00080
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser)
|
rs184442491
|
0.00079
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)
|
rs191802172
|
0.00078
|
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)
|
rs200098356
|
0.00078
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)
|
rs145343609
|
0.00077
|
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe)
|
rs121912502
|
0.00076
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)
|
rs146333579
|
0.00076
|
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)
|
rs146132083
|
0.00076
|
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr)
|
rs373294263
|
0.00076
|
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr)
|
rs111033351
|
0.00076
|
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu)
|
rs117188693
|
0.00075
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00074
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln)
|
rs118163237
|
0.00074
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_001370259.2(MEN1):c.-22C>A
|
rs374749001
|
0.00073
|
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys)
|
rs113594027
|
0.00073
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg)
|
rs138838276
|
0.00072
|
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr)
|
rs138804394
|
0.00071
|
NM_001039876.3(SYNE4):c.317A>C (p.Gln106Pro)
|
rs200994810
|
0.00071
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)
|
rs140913030
|
0.00071
|
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr)
|
rs147314430
|
0.00071
|
NM_133379.5(TTN):c.16613G>A (p.Arg5538His)
|
rs145932311
|
0.00071
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser)
|
rs186893662
|
0.00070
|
NM_002906.4(RDX):c.1468G>A (p.Asp490Asn)
|
rs34471100
|
0.00070
|
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe)
|
rs41310067
|
0.00070
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp)
|
rs199847981
|
0.00069
|
NM_002458.3(MUC5B):c.14573T>C (p.Met4858Thr)
|
rs201272490
|
0.00069
|
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)
|
rs146419641
|
0.00069
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
NM_001378609.3(OTOGL):c.3172A>G (p.Arg1058Gly)
|
rs201186191
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)
|
rs145369252
|
0.00068
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=)
|
rs113067047
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln)
|
rs146696590
|
0.00067
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
NM_004415.4(DSP):c.782C>T (p.Ala261Val)
|
rs139509870
|
0.00067
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp)
|
rs146257403
|
0.00067
|
NM_174878.3(CLRN1):c.433+1061A>T
|
rs567709615
|
0.00067
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter)
|
rs200484521
|
0.00066
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_002923.4(RGS2):c.68G>A (p.Gly23Asp)
|
rs148489044
|
0.00066
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00066
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn)
|
rs202084078
|
0.00066
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
NM_001384140.1(PCDH15):c.4526A>G (p.Gln1509Arg)
|
rs115559383
|
0.00065
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)
|
rs145448362
|
0.00065
|
NM_001032283.3(TMPO):c.565+2149C>T
|
rs34150443
|
0.00064
|
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile)
|
rs70940811
|
0.00064
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp)
|
rs114875104
|
0.00064
|
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His)
|
rs180748688
|
0.00064
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00063
|
NM_000260.4(MYO7A):c.3750+5G>A
|
rs111033391
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn)
|
rs112009206
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys)
|
rs201618718
|
0.00063
|
NM_022114.4(PRDM16):c.2786C>A (p.Pro929His)
|
rs145632008
|
0.00063
|
NM_147196.3(TMIE):c.40G>A (p.Gly14Ser)
|
rs397517869
|
0.00063
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr)
|
rs2234933
|
0.00062
|
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln)
|
rs150095081
|
0.00062
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_020297.4(ABCC9):c.2199-13G>A
|
rs201226082
|
0.00062
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp)
|
rs764159927
|
0.00061
|
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)
|
rs146175803
|
0.00061
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
NM_057176.3(BSND):c.851G>A (p.Gly284Asp)
|
rs150426464
|
0.00061
|
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu)
|
rs140388347
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_001105206.3(LAMA4):c.196-15G>C
|
rs371906362
|
0.00060
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met)
|
rs200848641
|
0.00059
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_139281.3(WDR36):c.208G>A (p.Asp70Asn)
|
rs115541547
|
0.00059
|
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn)
|
rs111033352
|
0.00059
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_001032283.3(TMPO):c.565+2368G>A
|
rs138295270
|
0.00058
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val)
|
rs200930743
|
0.00058
|
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)
|
rs143345726
|
0.00058
|
NM_022114.4(PRDM16):c.38-14G>A
|
rs368409902
|
0.00058
|
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln)
|
rs147596628
|
0.00058
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
NM_001199799.2(ILDR1):c.461C>T (p.Ser154Leu)
|
rs115649165
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)
|
rs375308440
|
0.00057
|
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter)
|
rs71454844
|
0.00057
|
NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)
|
rs139179263
|
0.00057
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)
|
rs200242497
|
0.00056
|
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro)
|
rs117747744
|
0.00056
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00056
|
NM_016953.4(PDE11A):c.171del (p.Thr58fs)
|
rs529789124
|
0.00056
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_020297.4(ABCC9):c.2770-13A>G
|
rs184123387
|
0.00055
|
NM_022124.6(CDH23):c.1752+6G>A
|
rs369013539
|
0.00055
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)
|
rs140614903
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)
|
rs201896662
|
0.00054
|
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser)
|
rs147052893
|
0.00054
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys)
|
rs147011199
|
0.00054
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
NM_000601.6(HGF):c.1891G>A (p.Val631Met)
|
rs145494248
|
0.00053
|
NM_001005242.3(PKP2):c.1379-2054C>T
|
rs144620127
|
0.00053
|
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser)
|
rs138193709
|
0.00053
|
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu)
|
rs150434290
|
0.00053
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser)
|
rs121434431
|
0.00053
|
NM_015404.4(WHRN):c.2510G>A (p.Arg837His)
|
rs55749855
|
0.00053
|
NM_133379.5(TTN):c.14812A>G (p.Met4938Val)
|
rs145581345
|
0.00053
|
NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln)
|
rs199696801
|
0.00052
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn)
|
rs147283064
|
0.00052
|
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu)
|
rs200121200
|
0.00052
|
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)
|
rs143210369
|
0.00052
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)
|
rs140927806
|
0.00051
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)
|
rs397516621
|
0.00051
|
NM_001267550.2(TTN):c.33827-8C>T
|
rs371318311
|
0.00051
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_001292063.2(OTOG):c.2113A>G (p.Thr705Ala)
|
rs562612507
|
0.00051
|
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser)
|
rs374634079
|
0.00051
|
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)
|
rs148530934
|
0.00051
|
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp)
|
rs146522169
|
0.00051
|
NM_153700.2(STRC):c.4432A>C (p.Thr1478Pro)
|
rs148736697
|
0.00051
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp)
|
rs140567004
|
0.00050
|
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)
|
rs144840779
|
0.00050
|
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu)
|
rs145468090
|
0.00050
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp)
|
rs149813580
|
0.00049
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_001128228.3(TPRN):c.1906C>T (p.Arg636Trp)
|
rs145556855
|
0.00048
|
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)
|
rs148223897
|
0.00048
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00048
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)
|
rs72646822
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly)
|
rs545257884
|
0.00048
|
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr)
|
rs564747350
|
0.00048
|
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp)
|
rs374664141
|
0.00048
|
NM_133261.3(GIPC3):c.*15G>A
|
rs368944411
|
0.00048
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_001378609.3(OTOGL):c.3911A>T (p.His1304Leu)
|
rs187723280
|
0.00047
|
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
|
rs183633457
|
0.00047
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)
|
rs371513491
|
0.00046
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)
|
rs145897390
|
0.00046
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_001371333.1(DIABLO):c.315+6T>A
|
rs370571609
|
0.00046
|
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)
|
rs138158369
|
0.00046
|
NM_004006.3(DMD):c.4072-245C>T
|
rs140237546
|
0.00046
|
NM_005422.4(TECTA):c.2638A>G (p.Thr880Ala)
|
rs143315827
|
0.00046
|
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn)
|
rs142143310
|
0.00046
|
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg)
|
rs200843771
|
0.00046
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)
|
rs200241993
|
0.00045
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_000514.4(GDNF):c.*5G>A
|
rs145996577
|
0.00045
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu)
|
rs370046582
|
0.00045
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)
|
rs141140798
|
0.00045
|
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala)
|
rs145183384
|
0.00045
|
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)
|
rs199904558
|
0.00045
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)
|
rs137868043
|
0.00045
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)
|
rs199643269
|
0.00044
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_002458.3(MUC5B):c.2068A>G (p.Lys690Glu)
|
rs376986344
|
0.00044
|
NM_002700.3(POU4F3):c.230A>G (p.Asp77Gly)
|
rs138310635
|
0.00044
|
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln)
|
rs11557669
|
0.00044
|
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)
|
rs202101019
|
0.00044
|
NM_024867.4(SPEF2):c.2390A>G (p.Asp797Gly)
|
rs201730485
|
0.00044
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)
|
rs41293104
|
0.00044
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00044
|
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys)
|
rs147070644
|
0.00044
|
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)
|
rs141813907
|
0.00043
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412
|
0.00043
|
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser)
|
rs145301300
|
0.00043
|
NM_001105206.3(LAMA4):c.967-15C>G
|
rs375041786
|
0.00043
|
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His)
|
rs200204761
|
0.00043
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp)
|
rs372546084
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr)
|
rs376220834
|
0.00043
|
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu)
|
rs201398260
|
0.00043
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
NM_144991.3(TSPEAR):c.791-14G>C
|
rs199699551
|
0.00043
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_001039141.3(TRIOBP):c.4666G>A (p.Glu1556Lys)
|
rs376793698
|
0.00042
|
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)
|
rs142482143
|
0.00042
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
0.00042
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001384474.1(LOXHD1):c.6524T>C (p.Phe2175Ser)
|
rs546735322
|
0.00042
|
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val)
|
rs144492050
|
0.00042
|
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)
|
rs72648909
|
0.00042
|
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr)
|
rs148967240
|
0.00042
|
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
|
rs146333270
|
0.00042
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu)
|
rs199473320
|
0.00041
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr)
|
rs35548413
|
0.00041
|
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu)
|
rs144038296
|
0.00041
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_001142864.4(PIEZO1):c.1107+1G>C
|
rs199524784
|
0.00041
|
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)
|
rs201482015
|
0.00041
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)
|
rs200899806
|
0.00041
|
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)
|
rs202096200
|
0.00041
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
NM_001354604.2(MITF):c.881-7T>A
|
rs200580325
|
0.00041
|
NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg)
|
rs139511903
|
0.00041
|
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp)
|
rs191608225
|
0.00041
|
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile)
|
rs182149228
|
0.00041
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
0.00041
|
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)
|
rs150815925
|
0.00041
|
NM_002471.4(MYH6):c.643-5C>T
|
rs199859986
|
0.00041
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
NM_004447.6(EPS8):c.2177C>T (p.Thr726Ile)
|
rs150904526
|
0.00041
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg)
|
rs200273207
|
0.00041
|
NM_178452.6(DNAAF1):c.1990A>C (p.Thr664Pro)
|
rs199680570
|
0.00041
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_007078.3(LDB3):c.-15G>A
|
rs201865389
|
0.00040
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg)
|
rs141226759
|
0.00039
|
NM_001089.3(ABCA3):c.1549G>A (p.Glu517Lys)
|
rs201157181
|
0.00039
|
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)
|
rs150084275
|
0.00039
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00039
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys)
|
rs373151735
|
0.00039
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)
|
rs201076440
|
0.00039
|
NM_133379.5(TTN):c.13792C>T (p.Pro4598Ser)
|
rs145996491
|
0.00039
|
NM_000044.6(AR):c.173A>T (p.Gln58Leu)
|
rs200185441
|
0.00038
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)
|
rs370338674
|
0.00038
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
NM_001035.3(RYR2):c.11246-11del
|
rs397516503
|
0.00038
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser)
|
rs145522874
|
0.00038
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)
|
rs143919208
|
0.00038
|
NM_004415.4(DSP):c.688G>A (p.Asp230Asn)
|
rs147315869
|
0.00038
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_153700.2(STRC):c.890A>G (p.Asn297Ser)
|
rs876658011
|
0.00038
|
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu)
|
rs141972928
|
0.00038
|
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)
|
rs201905280
|
0.00037
|
NM_001032283.3(TMPO):c.565+1848G>A
|
rs34301677
|
0.00037
|
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
|
rs142896669
|
0.00037
|
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser)
|
rs139380111
|
0.00037
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn)
|
rs144880521
|
0.00037
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met)
|
rs143709408
|
0.00036
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
0.00036
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413
|
0.00036
|
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile)
|
rs200359303
|
0.00036
|
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
|
rs121918282
|
0.00036
|
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His)
|
rs115066564
|
0.00036
|
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr)
|
rs144474773
|
0.00036
|
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)
|
rs371951525
|
0.00036
|
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)
|
rs190421400
|
0.00036
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn)
|
rs150509146
|
0.00036
|
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser)
|
rs200763838
|
0.00036
|
NM_001393500.2(TOMT):c.596C>T (p.Ala199Val)
|
rs540371915
|
0.00036
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_003803.4(MYOM1):c.4177A>G (p.Lys1393Glu)
|
rs371239754
|
0.00036
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
NM_006073.4(TRDN):c.1472-12G>A
|
rs375364108
|
0.00036
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu)
|
rs149897775
|
0.00036
|
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)
|
rs201953758
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
NM_133379.5(TTN):c.10646G>A (p.Arg3549His)
|
rs148115514
|
0.00036
|
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys)
|
rs140437301
|
0.00036
|
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp)
|
rs373680242
|
0.00036
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln)
|
rs199918940
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)
|
rs199874790
|
0.00035
|
NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr)
|
rs375904468
|
0.00035
|
NM_001199107.2(TBC1D24):c.1143-15G>A
|
rs371213803
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)
|
rs564040169
|
0.00035
|
NM_002880.4(RAF1):c.-209G>A
|
rs727504351
|
0.00035
|
NM_004700.4(KCNQ4):c.*7T>C
|
rs537008263
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_006393.3(NEBL):c.2148+4T>C
|
rs193163659
|
0.00035
|
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser)
|
rs200562747
|
0.00035
|
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp)
|
rs201536811
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr)
|
rs144594692
|
0.00035
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_000260.4(MYO7A):c.5169-5G>A
|
rs727505232
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000395.3(CSF2RB):c.2608G>A (p.Val870Ile)
|
rs149281832
|
0.00034
|
NM_000441.1(SLC26A4):c.-60A>G
|
rs545973091
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=)
|
rs41276445
|
0.00034
|
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)
|
rs369933152
|
0.00034
|
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu)
|
rs373065549
|
0.00034
|
NM_001267550.2(TTN):c.53287+6G>A
|
rs149890360
|
0.00034
|
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)
|
rs199512049
|
0.00034
|
NM_001370649.1(CLIC5):c.-55+49397T>A
|
rs180804785
|
0.00034
|
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)
|
rs138145424
|
0.00034
|
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)
|
rs199761505
|
0.00034
|
NM_017433.5(MYO3A):c.1174T>C (p.Ser392Pro)
|
rs201323717
|
0.00034
|
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)
|
rs200662973
|
0.00034
|
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)
|
rs374156784
|
0.00034
|
NM_024009.3(GJB3):c.-4C>T
|
rs200902087
|
0.00034
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys)
|
rs62179016
|
0.00034
|
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys)
|
rs201447781
|
0.00034
|
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp)
|
rs147904376
|
0.00034
|
NM_194248.3(OTOF):c.2507G>A (p.Arg836His)
|
rs200670445
|
0.00034
|
NM_000059.4(BRCA2):c.10095_10096insT (p.Ser3366Ter)
|
rs730881599
|
0.00033
|
NM_000260.4(MYO7A):c.2282+5G>A
|
rs540145750
|
0.00033
|
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)
|
rs200643387
|
0.00033
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser)
|
rs547173007
|
0.00033
|
NM_002906.4(RDX):c.1106C>G (p.Thr369Ser)
|
rs201399984
|
0.00033
|
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser)
|
rs138843691
|
0.00033
|
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)
|
rs144274136
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00032
|
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter)
|
rs200758965
|
0.00032
|
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)
|
rs193212275
|
0.00032
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His)
|
rs374474061
|
0.00032
|
NM_002473.6(MYH9):c.3943-7C>A
|
rs376396278
|
0.00032
|
NM_002473.6(MYH9):c.4831G>A (p.Ala1611Thr)
|
rs150029980
|
0.00032
|
NM_003242.6(TGFBR2):c.1525-7G>A
|
rs377499122
|
0.00032
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg)
|
rs141233896
|
0.00032
|
NM_006644.4(HSPH1):c.754T>C (p.Tyr252His)
|
rs146520007
|
0.00032
|
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala)
|
rs368760461
|
0.00032
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000441.1(SLC26A4):c.-189A>T
|
rs111033440
|
0.00031
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
NM_001035.3(RYR2):c.774-14G>T
|
rs370114411
|
0.00031
|
NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp)
|
rs146399987
|
0.00031
|
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)
|
rs148824162
|
0.00031
|
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp)
|
rs375944265
|
0.00031
|
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)
|
rs185620750
|
0.00031
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
NM_001276345.2(TNNT2):c.720-13_720-11del
|
rs397516480
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His)
|
rs147890616
|
0.00031
|
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val)
|
rs200058166
|
0.00031
|
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)
|
rs145677667
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
|
rs142951316
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr)
|
rs375918283
|
0.00031
|
NM_022124.6(CDH23):c.6377G>A (p.Arg2126His)
|
rs201942629
|
0.00031
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
NM_133379.5(TTN):c.14240A>T (p.Asp4747Val)
|
rs149586047
|
0.00031
|
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)
|
rs142371860
|
0.00031
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
0.00031
|
NM_194248.3(OTOF):c.4023+1G>A
|
rs186810296
|
0.00031
|
NM_201596.3(CACNB2):c.804+146G>T
|
rs199539261
|
0.00031
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_207034.3(EDN3):c.208G>A (p.Ala70Thr)
|
rs369429604
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00030
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
|
rs397516423
|
0.00030
|
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)
|
rs200664061
|
0.00030
|
NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val)
|
rs142560436
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_001292063.2(OTOG):c.5918C>T (p.Thr1973Met)
|
rs868729716
|
0.00030
|
NM_004999.4(MYO6):c.52A>G (p.Met18Val)
|
rs142516093
|
0.00030
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu)
|
rs143644290
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr)
|
rs201033926
|
0.00030
|
NM_022124.6(CDH23):c.2171G>A (p.Arg724His)
|
rs374955091
|
0.00030
|
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr)
|
rs200328570
|
0.00030
|
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile)
|
rs149484264
|
0.00029
|
NM_001038603.3(MARVELD2):c.585A>G (p.Ile195Met)
|
rs144870558
|
0.00029
|
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
|
rs147205617
|
0.00029
|
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys)
|
rs187789045
|
0.00029
|
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)
|
rs200237973
|
0.00029
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)
|
rs375204371
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001376256.1(CRYM):c.108C>A (p.Ser36Arg)
|
rs147233841
|
0.00029
|
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg)
|
rs200392453
|
0.00029
|
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser)
|
rs184022679
|
0.00029
|
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)
|
rs138768918
|
0.00029
|
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)
|
rs148028521
|
0.00029
|
NM_006005.3(WFS1):c.1124G>A (p.Arg375His)
|
rs142671083
|
0.00029
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
NM_006005.3(WFS1):c.325C>T (p.His109Tyr)
|
rs112871383
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_015340.4(LARS2):c.488G>A (p.Arg163His)
|
rs150185028
|
0.00029
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00029
|
NM_022124.6(CDH23):c.1134+53C>A
|
rs572222393
|
0.00029
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00029
|
NM_138691.3(TMC1):c.1705A>G (p.Thr569Ala)
|
rs148971770
|
0.00029
|
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)
|
rs199738750
|
0.00029
|
NM_144672.4(OTOA):c.605G>C (p.Arg202Pro)
|
rs142850013
|
0.00029
|
NM_144991.3(TSPEAR):c.1335A>G (p.Glu445=)
|
rs200789378
|
0.00029
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00029
|
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)
|
rs199473669
|
0.00028
|
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)
|
rs372768607
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His)
|
rs140346737
|
0.00028
|
NM_001267550.2(TTN):c.28463-14G>A
|
rs200917885
|
0.00028
|
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr)
|
rs191699632
|
0.00028
|
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)
|
rs376857956
|
0.00028
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_002294.3(LAMP2):c.-10C>T
|
rs201209341
|
0.00028
|
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val)
|
rs75487328
|
0.00028
|
NM_005422.4(TECTA):c.3103G>A (p.Glu1035Lys)
|
rs150512674
|
0.00028
|
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn)
|
rs368603235
|
0.00028
|
NM_000260.4(MYO7A):c.758A>G (p.His253Arg)
|
rs375200566
|
0.00027
|
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)
|
rs200248944
|
0.00027
|
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)
|
rs200424400
|
0.00027
|
NM_001195263.2(PDZD7):c.1171A>G (p.Ile391Val)
|
rs767734855
|
0.00027
|
NM_001267550.2(TTN):c.33172+4G>A
|
rs756475184
|
0.00027
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln)
|
rs147254212
|
0.00027
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)
|
rs201958805
|
0.00027
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
|
rs145508517
|
0.00027
|
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser)
|
rs201876362
|
0.00027
|
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg)
|
rs200212083
|
0.00027
|
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile)
|
rs373954823
|
0.00027
|
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)
|
rs139455627
|
0.00027
|
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys)
|
rs201097154
|
0.00027
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)
|
rs147920229
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)
|
rs149433837
|
0.00026
|
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)
|
rs201298767
|
0.00026
|
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)
|
rs199557654
|
0.00026
|
NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg)
|
rs368297438
|
0.00026
|
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)
|
rs150667217
|
0.00026
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)
|
rs367603302
|
0.00026
|
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)
|
rs201662134
|
0.00026
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)
|
rs201400267
|
0.00026
|
NM_001292063.2(OTOG):c.6515G>A (p.Arg2172His)
|
rs555068328
|
0.00026
|
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro)
|
rs563003848
|
0.00026
|
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)
|
rs139175351
|
0.00026
|
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala)
|
rs139633545
|
0.00026
|
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153
|
0.00026
|
NM_003001.5(SDHC):c.405+23C>T
|
rs373731336
|
0.00026
|
NM_004006.3(DMD):c.9225-5819G>T
|
rs377152944
|
0.00026
|
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)
|
rs201507590
|
0.00026
|
NM_005422.4(TECTA):c.327C>T (p.Gly109=)
|
rs727504830
|
0.00026
|
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
|
rs45577134
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_013314.4(BLNK):c.115C>T (p.Leu39=)
|
rs34135972
|
0.00026
|
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr)
|
rs142823078
|
0.00026
|
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)
|
rs199508694
|
0.00026
|
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610
|
0.00026
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu)
|
rs189895472
|
0.00026
|
NM_194248.3(OTOF):c.154G>A (p.Val52Met)
|
rs199992845
|
0.00026
|
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe)
|
rs145638628
|
0.00026
|
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)
|
rs150280500
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile)
|
rs376504548
|
0.00025
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys)
|
rs574725520
|
0.00025
|
NM_000432.4(MYL2):c.275-14G>C
|
rs375703502
|
0.00025
|
NM_001039213.4(CEACAM16):c.116T>A (p.Leu39Gln)
|
rs375722926
|
0.00025
|
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)
|
rs139515659
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)
|
rs180177501
|
0.00025
|
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)
|
rs368502650
|
0.00025
|
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp)
|
rs201183725
|
0.00025
|
NM_001384474.1(LOXHD1):c.6082G>A (p.Gly2028Ser)
|
rs569121054
|
0.00025
|
NM_001386795.1(DTNA):c.316C>G (p.Gln106Glu)
|
rs140768365
|
0.00025
|
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)
|
rs34292387
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)
|
rs397507456
|
0.00025
|
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)
|
rs144146254
|
0.00025
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873
|
0.00025
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His)
|
rs201067092
|
0.00025
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)
|
rs143632883
|
0.00025
|
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)
|
rs201583659
|
0.00025
|
NM_133379.5(TTN):c.11283G>C (p.Lys3761Asn)
|
rs200816462
|
0.00025
|
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val)
|
rs72647901
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly)
|
rs146569216
|
0.00025
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp)
|
rs200583769
|
0.00024
|
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)
|
rs148498577
|
0.00024
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)
|
rs199788826
|
0.00024
|
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp)
|
rs199505541
|
0.00024
|
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)
|
rs187023993
|
0.00024
|
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr)
|
rs148162562
|
0.00024
|
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu)
|
rs145232643
|
0.00024
|
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp)
|
rs199867593
|
0.00024
|
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln)
|
rs147050513
|
0.00024
|
NM_004004.6(GJB2):c.-127G>C
|
rs727503068
|
0.00024
|
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys)
|
rs117749531
|
0.00024
|
NM_005379.4(MYO1A):c.1667C>T (p.Ser556Phe)
|
rs571906190
|
0.00024
|
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile)
|
rs377156351
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_016239.4(MYO15A):c.10076C>T (p.Pro3359Leu)
|
rs201763265
|
0.00024
|
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val)
|
rs200249886
|
0.00024
|
NM_016239.4(MYO15A):c.4142+6T>C
|
rs368090576
|
0.00024
|
NM_017433.5(MYO3A):c.1052A>C (p.Glu351Ala)
|
rs141612979
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
NM_031475.3(ESPN):c.337C>T (p.Arg113Cys)
|
rs143577178
|
0.00024
|
NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly)
|
rs142973956
|
0.00024
|
NM_144991.3(TSPEAR):c.1185G>T (p.Glu395Asp)
|
rs143303485
|
0.00024
|
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr)
|
rs143628723
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00023
|
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile)
|
rs369539923
|
0.00023
|
NM_000542.5(SFTPB):c.548G>A (p.Gly183Glu)
|
rs35524245
|
0.00023
|
NM_001005242.3(PKP2):c.1379-2025G>A
|
rs537458442
|
0.00023
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys)
|
rs201810836
|
0.00023
|
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro)
|
rs778687487
|
0.00023
|
NM_001330.5(CTF1):c.275C>A (p.Ala92Glu)
|
rs727502949
|
0.00023
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
NM_005219.5(DIAPH1):c.685-5A>G
|
rs367786290
|
0.00023
|
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)
|
rs146592584
|
0.00023
|
NM_014391.3(ANKRD1):c.652-10A>T
|
rs397517252
|
0.00023
|
NM_024422.6(DSC2):c.-113C>A
|
rs866593085
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile)
|
rs373243941
|
0.00022
|
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr)
|
rs199853331
|
0.00022
|
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr)
|
rs141261442
|
0.00022
|
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)
|
rs144565124
|
0.00022
|
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His)
|
rs199700840
|
0.00022
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile)
|
rs367854582
|
0.00022
|
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
|
rs200952728
|
0.00022
|
NM_001267550.2(TTN):c.33911-6_33911-5insG
|
rs765503214
|
0.00022
|
NM_001286445.3(RIPOR2):c.1130C>T (p.Pro377Leu)
|
rs201901775
|
0.00022
|
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)
|
rs145325518
|
0.00022
|
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp)
|
rs375624435
|
0.00022
|
NM_001371333.1(DIABLO):c.-11C>T
|
rs376530914
|
0.00022
|
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)
|
rs199615641
|
0.00022
|
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn)
|
rs201344770
|
0.00022
|
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His)
|
rs187658135
|
0.00022
|
NM_001384474.1(LOXHD1):c.3874C>T (p.Leu1292Phe)
|
rs200792636
|
0.00022
|
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys)
|
rs373848470
|
0.00022
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys)
|
rs201193346
|
0.00022
|
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)
|
rs199936506
|
0.00022
|
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser)
|
rs200751434
|
0.00022
|
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)
|
rs148176750
|
0.00022
|
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met)
|
rs139158022
|
0.00022
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu)
|
rs144878400
|
0.00022
|
NM_017433.5(MYO3A):c.4840C>T (p.Gln1614Ter)
|
rs146106052
|
0.00022
|
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)
|
rs369697366
|
0.00022
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys)
|
rs145460295
|
0.00022
|
NM_170682.4(P2RX2):c.381+2T>C
|
rs200978001
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)
|
rs147374057
|
0.00022
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00021
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)
|
rs201736972
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)
|
rs371934474
|
0.00021
|
NM_001080476.3(GRXCR1):c.774G>A (p.Met258Ile)
|
rs200029324
|
0.00021
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
0.00021
|
NM_001276345.2(TNNT2):c.200-11A>G
|
rs368658464
|
0.00021
|
NM_001292063.2(OTOG):c.292+4A>C
|
rs535970426
|
0.00021
|
NM_001927.4(DES):c.166G>C (p.Val56Leu)
|
rs578066781
|
0.00021
|
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His)
|
rs376002621
|
0.00021
|
NM_003114.5(SPAG1):c.2707G>A (p.Asp903Asn)
|
rs148756457
|
0.00021
|
NM_003673.4(TCAP):c.458G>A (p.Arg153His)
|
rs149585781
|
0.00021
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro)
|
rs141616288
|
0.00021
|
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp)
|
rs144844263
|
0.00021
|
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly)
|
rs200683397
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_015404.4(WHRN):c.619G>T (p.Ala207Ser)
|
rs111033469
|
0.00021
|
NM_015512.5(DNAH1):c.4086G>T (p.Arg1362=)
|
rs199813499
|
0.00021
|
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)
|
rs148056866
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu)
|
rs186975400
|
0.00021
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672
|
0.00021
|
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)
|
rs141254777
|
0.00021
|
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met)
|
rs727503359
|
0.00021
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00020
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
0.00020
|
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)
|
rs397516733
|
0.00020
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
NM_001267550.2(TTN):c.48460+5G>A
|
rs374413644
|
0.00020
|
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile)
|
rs367816473
|
0.00020
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys)
|
rs376870149
|
0.00020
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)
|
rs149787233
|
0.00020
|
NM_001692.4(ATP6V1B1):c.670G>A (p.Val224Ile)
|
rs202215158
|
0.00020
|
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)
|
rs202214380
|
0.00020
|
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)
|
rs200705273
|
0.00020
|
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met)
|
rs397517269
|
0.00020
|
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln)
|
rs200781310
|
0.00020
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)
|
rs200679164
|
0.00020
|
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr)
|
rs145556189
|
0.00020
|
NC_000007.14:g.129774774G>A
|
rs375368092
|
0.00019
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His)
|
rs372628478
|
0.00019
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)
|
rs368716988
|
0.00019
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu)
|
rs45609733
|
0.00019
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_001039141.3(TRIOBP):c.6803G>A (p.Gly2268Asp)
|
rs200411253
|
0.00019
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe)
|
rs200382504
|
0.00019
|
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg)
|
rs397516625
|
0.00019
|
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)
|
rs142746163
|
0.00019
|
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp)
|
rs201421156
|
0.00019
|
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln)
|
rs201420077
|
0.00019
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)
|
rs376874956
|
0.00019
|
NM_001267550.2(TTN):c.39548-8A>G
|
rs369594816
|
0.00019
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro)
|
rs876657936
|
0.00019
|
NM_001354604.2(MITF):c.329C>T (p.Thr110Met)
|
rs190215588
|
0.00019
|
NM_001354604.2(MITF):c.394C>A (p.Gln132Lys)
|
rs201297175
|
0.00019
|
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg)
|
rs539112266
|
0.00019
|
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro)
|
rs140516168
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His)
|
rs372794975
|
0.00019
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
|
rs201327273
|
0.00019
|
NM_004568.6(SERPINB6):c.431-12T>G
|
rs370453956
|
0.00019
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
NM_004985.5(KRAS):c.451-5535A>C
|
rs201170656
|
0.00019
|
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)
|
rs146250423
|
0.00019
|
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)
|
rs138272051
|
0.00019
|
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys)
|
rs200095753
|
0.00019
|
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu)
|
rs373862003
|
0.00019
|
NM_006393.3(NEBL):c.14T>C (p.Val5Ala)
|
rs145770601
|
0.00019
|
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter)
|
rs146471913
|
0.00019
|
NM_006393.3(NEBL):c.369+5G>A
|
rs200249470
|
0.00019
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
NM_014000.3(VCL):c.2969C>T (p.Ala990Val)
|
rs150595117
|
0.00019
|
NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val)
|
rs150266349
|
0.00019
|
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)
|
rs201555289
|
0.00019
|
NM_017433.5(MYO3A):c.1796G>T (p.Ser599Ile)
|
rs142289318
|
0.00019
|
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter)
|
rs202111347
|
0.00019
|
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His)
|
rs747488431
|
0.00019
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)
|
rs74315318
|
0.00019
|
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu)
|
rs759908554
|
0.00019
|
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)
|
rs146526977
|
0.00019
|
NM_080680.3(COL11A2):c.233-8G>T
|
rs375268140
|
0.00019
|
NM_133379.5(TTN):c.10625G>A (p.Arg3542Gln)
|
rs141926114
|
0.00019
|
NM_194248.3(OTOF):c.5029G>A (p.Ala1677Thr)
|
rs372908847
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)
|
rs199473443
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met)
|
rs727505067
|
0.00018
|
NM_001145809.2(MYH14):c.2840G>A (p.Arg947His)
|
rs374883445
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys)
|
rs201653851
|
0.00018
|
NM_001267550.2(TTN):c.24922C>T (p.Pro8308Ser)
|
rs373770383
|
0.00018
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_001267550.2(TTN):c.30511+3G>A
|
rs563582627
|
0.00018
|
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)
|
rs201991864
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)
|
rs143251480
|
0.00018
|
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His)
|
rs201180147
|
0.00018
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00018
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
NM_002906.4(RDX):c.1037A>C (p.Glu346Ala)
|
rs141462728
|
0.00018
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
NM_004568.6(SERPINB6):c.313-5C>G
|
rs370994947
|
0.00018
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00018
|
NM_006231.4(POLE):c.5636G>A (p.Arg1879His)
|
rs145621558
|
0.00018
|
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val)
|
rs141569007
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_031475.3(ESPN):c.2504G>A (p.Ser835Asn)
|
rs727503039
|
0.00018
|
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu)
|
rs200699092
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)
|
rs373519667
|
0.00017
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
NM_000384.3(APOB):c.13181T>C (p.Val4394Ala)
|
rs12720843
|
0.00017
|
NM_000441.1(SLC26A4):c.-139C>T
|
rs879914861
|
0.00017
|
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)
|
rs150946659
|
0.00017
|
NM_000601.6(HGF):c.682T>G (p.Ser228Ala)
|
rs139457161
|
0.00017
|
NM_001032283.3(TMPO):c.806G>A (p.Arg269His)
|
rs142891873
|
0.00017
|
NM_001038603.3(MARVELD2):c.*2G>A
|
rs530892254
|
0.00017
|
NM_001039141.3(TRIOBP):c.5788C>T (p.Arg1930Trp)
|
rs142769400
|
0.00017
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)
|
rs373378672
|
0.00017
|
NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile)
|
rs727504200
|
0.00017
|
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg)
|
rs727503147
|
0.00017
|
NM_003803.4(MYOM1):c.3863C>T (p.Pro1288Leu)
|
rs200808890
|
0.00017
|
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala)
|
rs150440380
|
0.00017
|
NM_005633.4(SOS1):c.3347-1G>A
|
rs141565234
|
0.00017
|
NM_007078.3(LDB3):c.1858-10T>C
|
rs202208256
|
0.00017
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met)
|
rs142354133
|
0.00017
|
NM_017433.5(MYO3A):c.656C>T (p.Thr219Met)
|
rs377660409
|
0.00017
|
NM_020297.4(ABCC9):c.4512+690C>T
|
rs397517191
|
0.00017
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His)
|
rs200907244
|
0.00017
|
NM_153700.2(STRC):c.2640G>T (p.Glu880Asp)
|
rs1342864499
|
0.00017
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000219.6(KCNE1):c.238G>A (p.Val80Ile)
|
rs769368494
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met)
|
rs199893357
|
0.00016
|
NM_000268.4(NF2):c.613A>G (p.Met205Val)
|
rs141629512
|
0.00016
|
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His)
|
rs137854610
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)
|
rs143038626
|
0.00016
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
NM_001038603.3(MARVELD2):c.1310T>C (p.Ile437Thr)
|
rs140452135
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_001080476.3(GRXCR1):c.331T>C (p.Tyr111His)
|
rs201002003
|
0.00016
|
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)
|
rs373650093
|
0.00016
|
NM_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln)
|
rs200910800
|
0.00016
|
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr)
|
rs376071070
|
0.00016
|
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val)
|
rs375355193
|
0.00016
|
NM_001201397.2(EDNRB):c.164T>G (p.Leu55Arg)
|
rs761846391
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00016
|
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)
|
rs543102139
|
0.00016
|
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln)
|
rs201825412
|
0.00016
|
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)
|
rs371538664
|
0.00016
|
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val)
|
rs182445366
|
0.00016
|
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)
|
rs370135374
|
0.00016
|
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile)
|
rs371081043
|
0.00016
|
NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)
|
rs200717463
|
0.00016
|
NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile)
|
rs375211424
|
0.00016
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)
|
rs373727636
|
0.00016
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
NM_001330.5(CTF1):c.*5C>A
|
rs397516644
|
0.00016
|
NM_001367479.1(DNAH14):c.502C>T (p.Pro168Ser)
|
rs375791690
|
0.00016
|
NM_001371333.1(DIABLO):c.179C>T (p.Ala60Val)
|
rs199898020
|
0.00016
|
NM_001378609.3(OTOGL):c.2560T>C (p.Phe854Leu)
|
rs201487127
|
0.00016
|
NM_001393500.2(TOMT):c.703C>T (p.His235Tyr)
|
rs570166217
|
0.00016
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
NM_002458.3(MUC5B):c.16442C>T (p.Thr5481Met)
|
rs369142865
|
0.00016
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn)
|
rs138193963
|
0.00016
|
NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg)
|
rs148985828
|
0.00016
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser)
|
rs145650440
|
0.00016
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
NM_005548.3(KARS1):c.1438G>C (p.Glu480Gln)
|
rs376538590
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)
|
rs147724970
|
0.00016
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_014391.3(ANKRD1):c.234A>T (p.Arg78Ser)
|
rs141376679
|
0.00016
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile)
|
rs113542001
|
0.00016
|
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=)
|
rs146942382
|
0.00016
|
NM_020297.4(ABCC9):c.4512+765C>T
|
rs142875103
|
0.00016
|
NM_022124.6(CDH23):c.1581G>T (p.Gln527His)
|
rs552906420
|
0.00016
|
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly)
|
rs372401651
|
0.00016
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722
|
0.00016
|
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)
|
rs201800819
|
0.00016
|
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg)
|
rs727504812
|
0.00016
|
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)
|
rs376797260
|
0.00016
|
NM_133261.3(GIPC3):c.883G>A (p.Glu295Lys)
|
rs201853780
|
0.00016
|
NM_133379.5(TTN):c.13888C>G (p.Leu4630Val)
|
rs139103966
|
0.00016
|
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg)
|
rs148791107
|
0.00016
|
NM_138691.3(TMC1):c.448G>A (p.Ala150Thr)
|
rs534560340
|
0.00016
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
NM_153676.4(USH1C):c.1889T>C (p.Leu630Pro)
|
rs377002861
|
0.00016
|
NM_153676.4(USH1C):c.2280+6del
|
rs776356060
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)
|
rs201008540
|
0.00016
|
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys)
|
rs199526690
|
0.00016
|
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)
|
rs148454691
|
0.00016
|
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys)
|
rs150070091
|
0.00016
|
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
|
rs142617606
|
0.00016
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
NM_000256.3(MYBPC3):c.1226+6T>C
|
rs397515892
|
0.00015
|
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met)
|
rs377163678
|
0.00015
|
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr)
|
rs376688581
|
0.00015
|
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met)
|
rs369768947
|
0.00015
|
NM_000441.1(SLC26A4):c.-157G>A
|
rs568363861
|
0.00015
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001105206.3(LAMA4):c.1298G>A (p.Arg433His)
|
rs369658574
|
0.00015
|
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser)
|
rs202176359
|
0.00015
|
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met)
|
rs201746408
|
0.00015
|
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys)
|
rs190192954
|
0.00015
|
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val)
|
rs397517772
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr)
|
rs373632943
|
0.00015
|
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys)
|
rs200293447
|
0.00015
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
NM_001378609.3(OTOGL):c.1561A>G (p.Thr521Ala)
|
rs187504761
|
0.00015
|
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr)
|
rs539100194
|
0.00015
|
NM_001384140.1(PCDH15):c.4671+1223C>T
|
rs566386133
|
0.00015
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys)
|
rs201415443
|
0.00015
|
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val)
|
rs200167311
|
0.00015
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
0.00015
|
NM_004006.3(DMD):c.32-14A>G
|
rs367757761
|
0.00015
|
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)
|
rs201433617
|
0.00015
|
NM_005422.4(TECTA):c.2575G>A (p.Glu859Lys)
|
rs192787819
|
0.00015
|
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys)
|
rs397517226
|
0.00015
|
NM_014476.6(PDLIM3):c.399-10A>G
|
rs199979457
|
0.00015
|
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr)
|
rs143641133
|
0.00015
|
NM_015340.4(LARS2):c.2620G>A (p.Glu874Lys)
|
rs142215302
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly)
|
rs199953758
|
0.00015
|
NM_022124.6(CDH23):c.4786C>T (p.Arg1596Cys)
|
rs372636295
|
0.00015
|
NM_032229.3(SLITRK6):c.1904G>A (p.Arg635His)
|
rs79624852
|
0.00015
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
NM_194248.3(OTOF):c.4363-6G>A
|
rs199567872
|
0.00015
|
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
0.00015
|
NM_207034.3(EDN3):c.554C>T (p.Thr185Met)
|
rs368327225
|
0.00015
|
NC_000013.11:g.20192983G>C
|
rs906180955
|
0.00014
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)
|
rs267607134
|
0.00014
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
NM_000268.4(NF2):c.240+15C>T
|
rs200701337
|
0.00014
|
NM_000384.3(APOB):c.2914G>A (p.Gly972Ser)
|
rs199893862
|
0.00014
|
NM_000395.3(CSF2RB):c.2431G>A (p.Glu811Lys)
|
rs144413438
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
NM_001038603.3(MARVELD2):c.868C>T (p.Pro290Ser)
|
rs757498916
|
0.00014
|
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)
|
rs146164600
|
0.00014
|
NM_001103.4(ACTN2):c.2367+5G>A
|
rs200469353
|
0.00014
|
NM_001105206.3(LAMA4):c.3558-7T>C
|
rs200864778
|
0.00014
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00014
|
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr)
|
rs138001307
|
0.00014
|
NM_001201397.2(EDNRB):c.11G>C (p.Ser4Thr)
|
rs201115708
|
0.00014
|
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)
|
rs199750975
|
0.00014
|
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)
|
rs376371272
|
0.00014
|
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)
|
rs199619070
|
0.00014
|
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)
|
rs201081803
|
0.00014
|
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser)
|
rs374449452
|
0.00014
|
NM_001267550.2(TTN):c.44282-6G>A
|
rs372166634
|
0.00014
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00014
|
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met)
|
rs373527448
|
0.00014
|
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)
|
rs374656017
|
0.00014
|
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)
|
rs200471370
|
0.00014
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00014
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)
|
rs148067743
|
0.00014
|
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)
|
rs200843338
|
0.00014
|
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys)
|
rs201688358
|
0.00014
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)
|
rs374063064
|
0.00014
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00014
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00014
|
NM_001292063.2(OTOG):c.3359T>C (p.Leu1120Pro)
|
rs757588809
|
0.00014
|
NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro)
|
rs200116659
|
0.00014
|
NM_001330691.3(CEP78):c.1214C>T (p.Pro405Leu)
|
rs539146413
|
0.00014
|
NM_001384474.1(LOXHD1):c.3166G>A (p.Glu1056Lys)
|
rs200260213
|
0.00014
|
NM_001384474.1(LOXHD1):c.854A>G (p.Asp285Gly)
|
rs1354495647
|
0.00014
|
NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu)
|
rs371863168
|
0.00014
|
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)
|
rs150415679
|
0.00014
|
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys)
|
rs376682837
|
0.00014
|
NM_002471.4(MYH6):c.346-2A>G
|
rs141187241
|
0.00014
|
NM_002700.3(POU4F3):c.490C>T (p.Pro164Ser)
|
rs372436251
|
0.00014
|
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe)
|
rs372312912
|
0.00014
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)
|
rs151150099
|
0.00014
|
NM_004239.4(TRIP11):c.5719+2T>C
|
rs199736345
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
NM_004999.4(MYO6):c.2472T>G (p.Ile824Met)
|
rs368132510
|
0.00014
|
NM_005379.4(MYO1A):c.2804T>C (p.Ile935Thr)
|
rs372760228
|
0.00014
|
NM_005422.4(TECTA):c.6162C>T (p.Ile2054=)
|
rs140608882
|
0.00014
|
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu)
|
rs55674815
|
0.00014
|
NM_006231.4(POLE):c.1583C>T (p.Thr528Met)
|
rs116263919
|
0.00014
|
NM_006231.4(POLE):c.6004+5G>T
|
rs372169366
|
0.00014
|
NM_006393.3(NEBL):c.109_110del (p.Leu37fs)
|
rs762005342
|
0.00014
|
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln)
|
rs141704318
|
0.00014
|
NM_013296.5(GPSM2):c.1358A>G (p.Lys453Arg)
|
rs200378397
|
0.00014
|
NM_015404.4(WHRN):c.2060C>T (p.Pro687Leu)
|
rs534523640
|
0.00014
|
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr)
|
rs201808265
|
0.00014
|
NM_017433.5(MYO3A):c.1207A>G (p.Ser403Gly)
|
rs375646552
|
0.00014
|
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys)
|
rs200349671
|
0.00014
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_022114.4(PRDM16):c.1187-10G>C
|
rs201517837
|
0.00014
|
NM_022114.4(PRDM16):c.1706C>T (p.Thr569Met)
|
rs200647136
|
0.00014
|
NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu)
|
rs377222292
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr)
|
rs375641853
|
0.00014
|
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr)
|
rs369142200
|
0.00014
|
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln)
|
rs142411476
|
0.00014
|
NM_030662.3(MAP2K2):c.*8C>T
|
rs377675706
|
0.00014
|
NM_032119.4(ADGRV1):c.6029A>G (p.Lys2010Arg)
|
rs774354351
|
0.00014
|
NM_032119.4(ADGRV1):c.8266G>A (p.Gly2756Arg)
|
rs546198768
|
0.00014
|
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys)
|
rs876657827
|
0.00014
|
NM_032229.3(SLITRK6):c.2506G>C (p.Val836Leu)
|
rs371823033
|
0.00014
|
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)
|
rs534570825
|
0.00014
|
NM_133261.3(GIPC3):c.50C>G (p.Ala17Gly)
|
rs876657815
|
0.00014
|
NM_144672.4(OTOA):c.3377T>C (p.Leu1126Pro)
|
rs568139514
|
0.00014
|
NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg)
|
rs762033637
|
0.00014
|
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu)
|
rs148168494
|
0.00014
|
NM_153700.2(STRC):c.3307-5T>G
|
rs727503446
|
0.00014
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
|
rs199472728
|
0.00013
|
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)
|
rs199473022
|
0.00013
|
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile)
|
rs397516016
|
0.00013
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn)
|
rs372050452
|
0.00013
|
NM_000307.5(POU3F4):c.506C>T (p.Pro169Leu)
|
rs200696740
|
0.00013
|
NM_000335.5(SCN5A):c.1891-8G>A
|
rs12720064
|
0.00013
|
NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys)
|
rs397517956
|
0.00013
|
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg)
|
rs142889209
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
NM_001039141.3(TRIOBP):c.5167C>A (p.Gln1723Lys)
|
rs370224413
|
0.00013
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
NM_001128840.3(CACNA1D):c.1389T>G (p.Asn463Lys)
|
rs150652713
|
0.00013
|
NM_001199799.2(ILDR1):c.1385G>A (p.Arg462Gln)
|
rs200630651
|
0.00013
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)
|
rs374405802
|
0.00013
|
NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly)
|
rs377063950
|
0.00013
|
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)
|
rs200941841
|
0.00013
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His)
|
rs397517573
|
0.00013
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)
|
rs397517600
|
0.00013
|
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg)
|
rs727505316
|
0.00013
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu)
|
rs146636599
|
0.00013
|
NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)
|
rs375667028
|
0.00013
|
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)
|
rs201019681
|
0.00013
|
NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met)
|
rs188322721
|
0.00013
|
NM_001318895.3(FHL2):c.512C>T (p.Thr171Met)
|
rs727504674
|
0.00013
|
NM_001330.5(CTF1):c.145-13C>T
|
rs397516646
|
0.00013
|
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met)
|
rs200980776
|
0.00013
|
NM_001379180.1(ESRRB):c.1229C>T (p.Thr410Met)
|
rs201714970
|
0.00013
|
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val)
|
rs199537178
|
0.00013
|
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln)
|
rs376467400
|
0.00013
|
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg)
|
rs368286192
|
0.00013
|
NM_001386795.1(DTNA):c.1847C>T (p.Thr616Met)
|
rs199556035
|
0.00013
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
NM_002473.6(MYH9):c.928A>G (p.Ile310Val)
|
rs149789202
|
0.00013
|
NM_002906.4(RDX):c.778A>G (p.Ile260Val)
|
rs138116275
|
0.00013
|
NM_003803.4(MYOM1):c.4357A>T (p.Met1453Leu)
|
rs181642354
|
0.00013
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu)
|
rs769636686
|
0.00013
|
NM_004817.4(TJP2):c.61-7319G>C
|
rs371868876
|
0.00013
|
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg)
|
rs376593325
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_005379.4(MYO1A):c.881G>A (p.Arg294His)
|
rs368189667
|
0.00013
|
NM_005379.4(MYO1A):c.92G>A (p.Arg31His)
|
rs727504447
|
0.00013
|
NM_005411.5(SFTPA1):c.724C>T (p.Arg242Ter)
|
rs4253528
|
0.00013
|
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)
|
rs141870580
|
0.00013
|
NM_015512.5(DNAH1):c.3432C>T (p.Ser1144=)
|
rs534534857
|
0.00013
|
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)
|
rs200451098
|
0.00013
|
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln)
|
rs373011563
|
0.00013
|
NM_022124.6(CDH23):c.3220+5G>A
|
rs977262704
|
0.00013
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
NM_057176.3(BSND):c.872A>G (p.Glu291Gly)
|
rs146313023
|
0.00013
|
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)
|
rs727504460
|
0.00013
|
NM_133379.5(TTN):c.13103A>G (p.Glu4368Gly)
|
rs145803192
|
0.00013
|
NM_133379.5(TTN):c.15768T>A (p.His5256Gln)
|
rs138826545
|
0.00013
|
NM_133379.5(TTN):c.15778A>G (p.Ile5260Val)
|
rs369214339
|
0.00013
|
NM_173477.5(USH1G):c.-8C>T
|
rs769903865
|
0.00013
|
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val)
|
rs144034147
|
0.00013
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)
|
rs148310342
|
0.00012
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)
|
rs111033527
|
0.00012
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp)
|
rs374486955
|
0.00012
|
NM_001039141.3(TRIOBP):c.6775C>T (p.Arg2259Cys)
|
rs536411182
|
0.00012
|
NM_001098668.4(SFTPA2):c.371-13C>G
|
rs755092596
|
0.00012
|
NM_001105206.3(LAMA4):c.521A>G (p.Tyr174Cys)
|
rs202131320
|
0.00012
|
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)
|
rs200177134
|
0.00012
|
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys)
|
rs369626956
|
0.00012
|
NM_001145809.2(MYH14):c.5876G>A (p.Arg1959Gln)
|
rs200878464
|
0.00012
|
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln)
|
rs144531477
|
0.00012
|
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr)
|
rs374631591
|
0.00012
|
NM_001267550.2(TTN):c.1399-3C>T
|
rs397517486
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00012
|
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn)
|
rs370342831
|
0.00012
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00012
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00012
|
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu)
|
rs750217838
|
0.00012
|
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)
|
rs397517667
|
0.00012
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)
|
rs397517720
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met)
|
rs201998913
|
0.00012
|
NM_001277115.2(DNAH11):c.3494A>G (p.Asp1165Gly)
|
rs370436662
|
0.00012
|
NM_001292063.2(OTOG):c.2080+5G>C
|
rs765790706
|
0.00012
|
NM_001292063.2(OTOG):c.2867+6T>G
|
rs906307749
|
0.00012
|
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)
|
rs104893615
|
0.00012
|
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp)
|
rs200752089
|
0.00012
|
NM_001378609.3(OTOGL):c.5273C>T (p.Pro1758Leu)
|
rs372958953
|
0.00012
|
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu)
|
rs372408513
|
0.00012
|
NM_001692.4(ATP6V1B1):c.1287G>A (p.Met429Ile)
|
rs368854893
|
0.00012
|
NM_001692.4(ATP6V1B1):c.1298T>C (p.Val433Ala)
|
rs149910460
|
0.00012
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
NM_004100.5(EYA4):c.1739-64G>A
|
rs143208937
|
0.00012
|
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu)
|
rs397516907
|
0.00012
|
NM_004415.4(DSP):c.2134G>A (p.Val712Met)
|
rs397516922
|
0.00012
|
NM_004999.4(MYO6):c.2616G>T (p.Lys872Asn)
|
rs139542573
|
0.00012
|
NM_005228.5(EGFR):c.2491C>T (p.Arg831Cys)
|
rs371228501
|
0.00012
|
NM_005373.3(MPL):c.391+5G>C
|
rs752453717
|
0.00012
|
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro)
|
rs376341411
|
0.00012
|
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)
|
rs147147660
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys)
|
rs147349145
|
0.00012
|
NM_016929.5(CLIC5):c.739C>T (p.Arg247Cys)
|
rs202022202
|
0.00012
|
NM_024915.4(GRHL2):c.1690A>T (p.Met564Leu)
|
rs200592171
|
0.00012
|
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp)
|
rs369126897
|
0.00012
|
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)
|
rs139116571
|
0.00012
|
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)
|
rs201663789
|
0.00012
|
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln)
|
rs140424216
|
0.00012
|
NM_194248.3(OTOF):c.2523+5G>A
|
rs201745796
|
0.00012
|
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg)
|
rs139380315
|
0.00011
|
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)
|
rs374981936
|
0.00011
|
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val)
|
rs199473348
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val)
|
rs370285346
|
0.00011
|
NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile)
|
rs876657869
|
0.00011
|
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr)
|
rs397516015
|
0.00011
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)
|
rs372727092
|
0.00011
|
NM_000321.3(RB1):c.59C>T (p.Pro20Leu)
|
rs587778637
|
0.00011
|
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)
|
rs67939655
|
0.00011
|
NM_000601.6(HGF):c.1934A>G (p.His645Arg)
|
rs202215700
|
0.00011
|
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)
|
rs141035459
|
0.00011
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001018116.2(CAVIN4):c.-10A>T
|
rs369755712
|
0.00011
|
NM_001032283.3(TMPO):c.565+1641A>G
|
rs143232629
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp)
|
rs142142718
|
0.00011
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp)
|
rs397516629
|
0.00011
|
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln)
|
rs63751086
|
0.00011
|
NM_001195263.2(PDZD7):c.1672C>T (p.Arg558Trp)
|
rs549755324
|
0.00011
|
NM_001195263.2(PDZD7):c.874G>A (p.Gly292Ser)
|
rs765091855
|
0.00011
|
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg)
|
rs143762350
|
0.00011
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)
|
rs727504609
|
0.00011
|
NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr)
|
rs112266780
|
0.00011
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln)
|
rs779015756
|
0.00011
|
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)
|
rs199834143
|
0.00011
|
NM_001267550.2(TTN):c.51437-9G>A
|
rs183060991
|
0.00011
|
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)
|
rs116142642
|
0.00011
|
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu)
|
rs201194435
|
0.00011
|
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)
|
rs181957743
|
0.00011
|
NM_001267550.2(TTN):c.59081G>A (p.Cys19694Tyr)
|
rs727505276
|
0.00011
|
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)
|
rs200155485
|
0.00011
|
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)
|
rs374492812
|
0.00011
|
NM_001267550.2(TTN):c.75833G>A (p.Arg25278His)
|
rs769729114
|
0.00011
|
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)
|
rs201095164
|
0.00011
|
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)
|
rs372784067
|
0.00011
|
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)
|
rs368439674
|
0.00011
|
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)
|
rs370541682
|
0.00011
|
NM_001267550.2(TTN):c.95083G>A (p.Gly31695Arg)
|
rs376403373
|
0.00011
|
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)
|
rs373876117
|
0.00011
|
NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr)
|
rs876658096
|
0.00011
|
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu)
|
rs200544701
|
0.00011
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
NM_001379180.1(ESRRB):c.1147G>A (p.Ala383Thr)
|
rs553650212
|
0.00011
|
NM_001384140.1(PCDH15):c.4671+1355A>G
|
rs372184022
|
0.00011
|
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys)
|
rs369682197
|
0.00011
|
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp)
|
rs540100675
|
0.00011
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
NM_002471.4(MYH6):c.5662-6C>T
|
rs183733802
|
0.00011
|
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met)
|
rs758626716
|
0.00011
|
NM_002880.4(RAF1):c.1537-13G>A
|
rs369039413
|
0.00011
|
NM_002906.4(RDX):c.1154A>C (p.Glu385Ala)
|
rs146713867
|
0.00011
|
NM_002906.4(RDX):c.256C>G (p.Pro86Ala)
|
rs376418131
|
0.00011
|
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)
|
rs199795359
|
0.00011
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_004568.6(SERPINB6):c.946G>A (p.Val316Met)
|
rs550855004
|
0.00011
|
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)
|
rs143132980
|
0.00011
|
NM_005411.5(SFTPA1):c.577C>T (p.Pro193Ser)
|
rs139806726
|
0.00011
|
NM_005548.3(KARS1):c.-1G>T
|
rs374675852
|
0.00011
|
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile)
|
rs188848517
|
0.00011
|
NM_006012.4(CLPP):c.667G>A (p.Ala223Thr)
|
rs377653992
|
0.00011
|
NM_006231.4(POLE):c.1738C>A (p.His580Asn)
|
rs371149234
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
NM_013296.5(GPSM2):c.1670G>A (p.Arg557His)
|
rs148266178
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn)
|
rs200073414
|
0.00011
|
NM_017433.5(MYO3A):c.1525T>C (p.Tyr509His)
|
rs150793986
|
0.00011
|
NM_020975.6(RET):c.1522+35C>T
|
rs377130948
|
0.00011
|
NM_022124.6(CDH23):c.1449+43C>T
|
rs550931640
|
0.00011
|
NM_022124.6(CDH23):c.1514+6A>G
|
rs367949981
|
0.00011
|
NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu)
|
rs201584731
|
0.00011
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00011
|
NM_023036.6(DNAI2):c.*13G>A
|
rs751438337
|
0.00011
|
NM_024915.4(GRHL2):c.641G>A (p.Ser214Asn)
|
rs199931364
|
0.00011
|
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)
|
rs200644004
|
0.00011
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054
|
0.00011
|
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)
|
rs188490457
|
0.00011
|
NM_133379.5(TTN):c.15608T>C (p.Ile5203Thr)
|
rs200376564
|
0.00011
|
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu)
|
rs149947445
|
0.00011
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_144991.3(TSPEAR):c.1690G>A (p.Val564Ile)
|
rs150792705
|
0.00011
|
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)
|
rs142652588
|
0.00011
|
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln)
|
rs558663132
|
0.00011
|
NM_153700.2(STRC):c.3817T>C (p.Ser1273Pro)
|
rs144626173
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn)
|
rs139201321
|
0.00011
|
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val)
|
rs144562626
|
0.00011
|
NM_201384.3(PLEC):c.5825C>T (p.Ala1942Val)
|
rs372179538
|
0.00011
|
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln)
|
rs190170807
|
0.00011
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln)
|
rs374630007
|
0.00010
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser)
|
rs370104824
|
0.00010
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131
|
0.00010
|
NM_000260.4(MYO7A):c.617G>A (p.Arg206His)
|
rs781998354
|
0.00010
|
NM_000371.4(TTR):c.140A>G (p.Asn47Ser)
|
rs145551875
|
0.00010
|
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)
|
rs397516426
|
0.00010
|
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)
|
rs150597240
|
0.00010
|
NM_000441.2(SLC26A4):c.415+4A>G
|
rs368280107
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)
|
rs758166168
|
0.00010
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys)
|
rs146177203
|
0.00010
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp)
|
rs151119304
|
0.00010
|
NM_001105206.3(LAMA4):c.1551+4C>T
|
rs201209516
|
0.00010
|
NM_001127453.2(GSDME):c.830C>T (p.Ser277Phe)
|
rs375794218
|
0.00010
|
NM_001128840.3(CACNA1D):c.3115-3C>T
|
rs779910083
|
0.00010
|
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr)
|
rs759409255
|
0.00010
|
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val)
|
rs727503387
|
0.00010
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp)
|
rs376267080
|
0.00010
|
NM_001145809.2(MYH14):c.3475G>T (p.Asp1159Tyr)
|
rs370256265
|
0.00010
|
NM_001145809.2(MYH14):c.5990C>T (p.Thr1997Met)
|
rs201986144
|
0.00010
|
NM_001171613.2(PREPL):c.1747G>C (p.Gly583Arg)
|
rs758234210
|
0.00010
|
NM_001199799.2(ILDR1):c.794C>T (p.Ser265Phe)
|
rs146027039
|
0.00010
|
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu)
|
rs201565932
|
0.00010
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00010
|
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)
|
rs369544339
|
0.00010
|
NM_001267550.2(TTN):c.18680C>T (p.Pro6227Leu)
|
rs376846228
|
0.00010
|
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)
|
rs397517510
|
0.00010
|
NM_001267550.2(TTN):c.26144G>A (p.Cys8715Tyr)
|
rs183499397
|
0.00010
|
NM_001267550.2(TTN):c.31762+4C>T
|
rs368538884
|
0.00010
|
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile)
|
rs397517566
|
0.00010
|
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)
|
rs201857541
|
0.00010
|
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)
|
rs369476725
|
0.00010
|
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)
|
rs397517662
|
0.00010
|
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)
|
rs200146608
|
0.00010
|
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)
|
rs199583938
|
0.00010
|
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)
|
rs200493270
|
0.00010
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)
|
rs368023868
|
0.00010
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His)
|
rs397517727
|
0.00010
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00010
|
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile)
|
rs727504672
|
0.00010
|
NM_001292063.2(OTOG):c.7810C>T (p.Arg2604Cys)
|
rs876657944
|
0.00010
|
NM_001292063.2(OTOG):c.94+76C>T
|
rs568988885
|
0.00010
|
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)
|
rs115099192
|
0.00010
|
NM_001378609.3(OTOGL):c.214T>C (p.Trp72Arg)
|
rs369473810
|
0.00010
|
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys)
|
rs372076259
|
0.00010
|
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys)
|
rs773223976
|
0.00010
|
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg)
|
rs370816148
|
0.00010
|
NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser)
|
rs769490340
|
0.00010
|
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys)
|
rs727503151
|
0.00010
|
NM_001386795.1(DTNA):c.1086-321A>C
|
rs191973037
|
0.00010
|
NM_001692.4(ATP6V1B1):c.422C>T (p.Ala141Val)
|
rs372842500
|
0.00010
|
NM_002230.4(JUP):c.926A>G (p.Asn309Ser)
|
rs140606359
|
0.00010
|
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)
|
rs142059069
|
0.00010
|
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln)
|
rs727503239
|
0.00010
|
NM_002471.4(MYH6):c.3343-3C>A
|
rs565446762
|
0.00010
|
NM_002880.4(RAF1):c.935T>C (p.Val312Ala)
|
rs370243307
|
0.00010
|
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)
|
rs267607124
|
0.00010
|
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)
|
rs199788586
|
0.00010
|
NM_005219.5(DIAPH1):c.3574+6G>C
|
rs538555634
|
0.00010
|
NM_005472.5(KCNE3):c.158G>A (p.Arg53His)
|
rs565287436
|
0.00010
|
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)
|
rs375550588
|
0.00010
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
NM_006005.3(WFS1):c.1969A>G (p.Met657Val)
|
rs71532861
|
0.00010
|
NM_006012.4(CLPP):c.100C>T (p.Pro34Ser)
|
rs776759641
|
0.00010
|
NM_006073.4(TRDN):c.125C>T (p.Thr42Met)
|
rs371627659
|
0.00010
|
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe)
|
rs375741031
|
0.00010
|
NM_014000.3(VCL):c.688C>T (p.Arg230Cys)
|
rs139312390
|
0.00010
|
NM_015404.4(WHRN):c.1625G>A (p.Arg542Lys)
|
rs200040563
|
0.00010
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys)
|
rs183319660
|
0.00010
|
NM_032119.4(ADGRV1):c.11581-2dup
|
rs745783842
|
0.00010
|
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)
|
rs200530343
|
0.00010
|
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144
|
0.00010
|
NM_080680.3(COL11A2):c.2528C>T (p.Thr843Met)
|
rs770007946
|
0.00010
|
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs)
|
rs759052246
|
0.00010
|
NM_133379.5(TTN):c.16075A>G (p.Met5359Val)
|
rs372044281
|
0.00010
|
NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln)
|
rs148147002
|
0.00010
|
NM_138691.3(TMC1):c.1030-3C>T
|
rs370872111
|
0.00010
|
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter)
|
rs150738413
|
0.00010
|
NM_170707.4(LMNA):c.*6G>A
|
rs397517885
|
0.00010
|
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys)
|
rs146982209
|
0.00010
|
NM_194248.3(OTOF):c.5128A>C (p.Met1710Leu)
|
rs368639052
|
0.00010
|
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser)
|
rs143898511
|
0.00010
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)
|
rs80338711
|
0.00009
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile)
|
rs199472677
|
0.00009
|
NM_000249.3(MLH1):c.-42C>T
|
rs41285097
|
0.00009
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val)
|
rs370362589
|
0.00009
|
NM_000256.3(MYBPC3):c.3384G>C (p.Glu1128Asp)
|
rs375116558
|
0.00009
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)
|
rs145677314
|
0.00009
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His)
|
rs373080197
|
0.00009
|
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)
|
rs397516328
|
0.00009
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His)
|
rs199473145
|
0.00009
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr)
|
rs199473294
|
0.00009
|
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)
|
rs45465995
|
0.00009
|
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)
|
rs192057022
|
0.00009
|
NM_000432.4(MYL2):c.374C>T (p.Thr125Met)
|
rs375667565
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_000687.4(AHCY):c.100C>T (p.Arg34Cys)
|
rs145239391
|
0.00009
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
NM_001018004.2(TPM1):c.773-1187G>A
|
rs144451403
|
0.00009
|
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr)
|
rs149659674
|
0.00009
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)
|
rs72550247
|
0.00009
|
NM_001039141.3(TRIOBP):c.6961T>C (p.Tyr2321His)
|
rs727503530
|
0.00009
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
NM_001145809.2(MYH14):c.693C>T (p.Pro231=)
|
rs373744231
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001256317.3(TMPRSS3):c.616+5G>A
|
rs138768408
|
0.00009
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)
|
rs397517786
|
0.00009
|
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)
|
rs72648945
|
0.00009
|
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln)
|
rs727504757
|
0.00009
|
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His)
|
rs368777046
|
0.00009
|
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr)
|
rs766391823
|
0.00009
|
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)
|
rs368988689
|
0.00009
|
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln)
|
rs138896856
|
0.00009
|
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)
|
rs370067597
|
0.00009
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
NM_001267550.2(TTN):c.51896C>T (p.Pro17299Leu)
|
rs369648778
|
0.00009
|
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)
|
rs549478203
|
0.00009
|
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)
|
rs150725992
|
0.00009
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)
|
rs727503603
|
0.00009
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)
|
rs200455644
|
0.00009
|
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)
|
rs374858668
|
0.00009
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00009
|
NM_001267550.2(TTN):c.68605G>A (p.Gly22869Ser)
|
rs876658078
|
0.00009
|
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val)
|
rs142391957
|
0.00009
|
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile)
|
rs753966916
|
0.00009
|
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val)
|
rs750806089
|
0.00009
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala)
|
rs759474127
|
0.00009
|
NM_001292063.2(OTOG):c.2294-7A>G
|
rs200998174
|
0.00009
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
NM_001370259.2(MEN1):c.655-4del
|
rs748005956
|
0.00009
|
NM_001378609.3(OTOGL):c.236-2A>G
|
rs766564988
|
0.00009
|
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn)
|
rs773599066
|
0.00009
|
NM_001384474.1(LOXHD1):c.1640G>A (p.Arg547His)
|
rs184173766
|
0.00009
|
NM_001384474.1(LOXHD1):c.5085+6G>A
|
rs373466081
|
0.00009
|
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser)
|
rs775871086
|
0.00009
|
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=)
|
rs749182319
|
0.00009
|
NM_001692.4(ATP6V1B1):c.1061-13A>G
|
rs200724195
|
0.00009
|
NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr)
|
rs781981910
|
0.00009
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)
|
rs727504770
|
0.00009
|
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)
|
rs387906639
|
0.00009
|
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)
|
rs780726611
|
0.00009
|
NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys)
|
rs201021615
|
0.00009
|
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu)
|
rs727504436
|
0.00009
|
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile)
|
rs149201422
|
0.00009
|
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile)
|
rs767932680
|
0.00009
|
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)
|
rs374886575
|
0.00009
|
NM_003803.4(MYOM1):c.1466A>G (p.Tyr489Cys)
|
rs369422118
|
0.00009
|
NM_003803.4(MYOM1):c.2137C>T (p.Arg713Cys)
|
rs375858580
|
0.00009
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser)
|
rs876657778
|
0.00009
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile)
|
rs373275414
|
0.00009
|
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly)
|
rs184810732
|
0.00009
|
NM_005422.4(TECTA):c.65-14A>G
|
rs201171064
|
0.00009
|
NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile)
|
rs773192982
|
0.00009
|
NM_005548.3(KARS1):c.1448C>G (p.Thr483Ser)
|
rs200645820
|
0.00009
|
NM_005633.4(SOS1):c.244A>G (p.Ile82Val)
|
rs397517157
|
0.00009
|
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn)
|
rs199856844
|
0.00009
|
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)
|
rs71526461
|
0.00009
|
NM_006231.4(POLE):c.431A>G (p.His144Arg)
|
rs755709875
|
0.00009
|
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)
|
rs145983824
|
0.00009
|
NM_012120.3(CD2AP):c.902A>T (p.Lys301Met)
|
rs141778404
|
0.00009
|
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)
|
rs140540222
|
0.00009
|
NM_015404.4(WHRN):c.1222C>A (p.Pro408Thr)
|
rs368241259
|
0.00009
|
NM_016239.4(MYO15A):c.10154T>C (p.Val3385Ala)
|
rs376432083
|
0.00009
|
NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly)
|
rs200041829
|
0.00009
|
NM_016239.4(MYO15A):c.5964+3G>C
|
rs530975087
|
0.00009
|
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg)
|
rs201542989
|
0.00009
|
NM_021116.4(ADCY1):c.1406A>G (p.His469Arg)
|
rs1055365568
|
0.00009
|
NM_021803.4(IL21):c.127A>T (p.Ile43Leu)
|
rs374097344
|
0.00009
|
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)
|
rs373168635
|
0.00009
|
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile)
|
rs374805957
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_022124.6(CDH23):c.7361C>T (p.Thr2454Met)
|
rs772949926
|
0.00009
|
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His)
|
rs199668532
|
0.00009
|
NM_022124.6(CDH23):c.9413G>A (p.Arg3138Gln)
|
rs372676235
|
0.00009
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00009
|
NM_031475.3(ESPN):c.1025C>T (p.Ser342Phe)
|
rs199502924
|
0.00009
|
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val)
|
rs761066341
|
0.00009
|
NM_032119.4(ADGRV1):c.16079-11C>G
|
rs374007277
|
0.00009
|
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu)
|
rs373862154
|
0.00009
|
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile)
|
rs547397177
|
0.00009
|
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu)
|
rs200503628
|
0.00009
|
NM_133379.5(TTN):c.13589T>G (p.Ile4530Arg)
|
rs200066725
|
0.00009
|
NM_133379.5(TTN):c.16016A>G (p.Asp5339Gly)
|
rs372997814
|
0.00009
|
NM_138691.3(TMC1):c.1846G>A (p.Val616Ile)
|
rs376422017
|
0.00009
|
NM_144573.4(NEXN):c.392A>G (p.Gln131Arg)
|
rs397517858
|
0.00009
|
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)
|
rs201600193
|
0.00009
|
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu)
|
rs371856107
|
0.00009
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
NM_194248.3(OTOF):c.2542G>A (p.Asp848Asn)
|
rs147865867
|
0.00009
|
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg)
|
rs146615166
|
0.00009
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)
|
rs764124390
|
0.00009
|
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln)
|
rs780020144
|
0.00009
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu)
|
rs373056282
|
0.00008
|
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln)
|
rs111033224
|
0.00008
|
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)
|
rs137854609
|
0.00008
|
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)
|
rs199473638
|
0.00008
|
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)
|
rs72654426
|
0.00008
|
NM_000455.5(STK11):c.920+5G>A
|
rs587780013
|
0.00008
|
NM_000501.4(ELN):c.34G>A (p.Gly12Arg)
|
rs149127344
|
0.00008
|
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)
|
rs375021201
|
0.00008
|
NM_001035.3(RYR2):c.13329-11T>G
|
rs778172821
|
0.00008
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
NM_001038603.3(MARVELD2):c.288C>A (p.Asp96Glu)
|
rs73113102
|
0.00008
|
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)
|
rs192816572
|
0.00008
|
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr)
|
rs727504595
|
0.00008
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
NM_001232.4(CASQ2):c.758G>A (p.Arg253His)
|
rs199571249
|
0.00008
|
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)
|
rs200782068
|
0.00008
|
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr)
|
rs397517829
|
0.00008
|
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)
|
rs191968963
|
0.00008
|
NM_001267550.2(TTN):c.17075T>C (p.Val5692Ala)
|
rs570039271
|
0.00008
|
NM_001267550.2(TTN):c.2776-14T>C
|
rs201611946
|
0.00008
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)
|
rs772677752
|
0.00008
|
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)
|
rs727504520
|
0.00008
|
NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu)
|
rs55940667
|
0.00008
|
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met)
|
rs397517759
|
0.00008
|
NM_001267550.2(TTN):c.99460C>T (p.Arg33154Cys)
|
rs143556947
|
0.00008
|
NM_001267550.2(TTN):c.99668G>A (p.Arg33223His)
|
rs369081242
|
0.00008
|
NM_001292063.2(OTOG):c.8541+5G>A
|
rs754883697
|
0.00008
|
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly)
|
rs727502974
|
0.00008
|
NM_001378609.3(OTOGL):c.6832A>G (p.Arg2278Gly)
|
rs372725776
|
0.00008
|
NM_001379180.1(ESRRB):c.302C>T (p.Ala101Val)
|
rs528723972
|
0.00008
|
NM_001384474.1(LOXHD1):c.210G>T (p.Glu70Asp)
|
rs876657859
|
0.00008
|
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln)
|
rs548893604
|
0.00008
|
NM_001399.5(EDA):c.491A>C (p.Glu164Ala)
|
rs397516663
|
0.00008
|
NM_001614.5(ACTG1):c.-1A>G
|
rs781801921
|
0.00008
|
NM_002471.4(MYH6):c.1002T>A (p.Asp334Glu)
|
rs371859345
|
0.00008
|
NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu)
|
rs778319108
|
0.00008
|
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp)
|
rs527571090
|
0.00008
|
NM_003803.4(MYOM1):c.3413G>A (p.Arg1138His)
|
rs148782330
|
0.00008
|
NM_003803.4(MYOM1):c.3665A>G (p.Tyr1222Cys)
|
rs748819463
|
0.00008
|
NM_005379.4(MYO1A):c.3091A>G (p.Lys1031Glu)
|
rs371613423
|
0.00008
|
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)
|
rs118031911
|
0.00008
|
NM_006393.3(NEBL):c.259-13T>G
|
rs923819811
|
0.00008
|
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr)
|
rs572757800
|
0.00008
|
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg)
|
rs373010557
|
0.00008
|
NM_016239.4(MYO15A):c.1418T>G (p.Leu473Arg)
|
rs370497397
|
0.00008
|
NM_016239.4(MYO15A):c.4038+6_4038+7del
|
rs1491110483
|
0.00008
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
NM_022124.6(CDH23):c.2059+6G>A
|
rs727502923
|
0.00008
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp)
|
rs397517344
|
0.00008
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)
|
rs150369301
|
0.00008
|
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)
|
rs369717492
|
0.00008
|
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter)
|
rs761299690
|
0.00008
|
NM_033118.4(MYLK2):c.719T>C (p.Val240Ala)
|
rs531015124
|
0.00008
|
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys)
|
rs752552097
|
0.00008
|
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln)
|
rs562658562
|
0.00008
|
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala)
|
rs200760091
|
0.00008
|
NM_144672.4(OTOA):c.446C>A (p.Ala149Asp)
|
rs113820086
|
0.00008
|
NM_144991.3(TSPEAR):c.673G>A (p.Ala225Thr)
|
rs146216896
|
0.00008
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp)
|
rs202174251
|
0.00008
|
NM_181458.4(PAX3):c.561C>G (p.Ser187Arg)
|
rs375978379
|
0.00008
|
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)
|
rs372966682
|
0.00008
|
NM_212550.5(BLOC1S3):c.92C>T (p.Ala31Val)
|
rs148910210
|
0.00008
|
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)
|
rs587779804
|
0.00007
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp)
|
rs766616232
|
0.00007
|
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr)
|
rs199473671
|
0.00007
|
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)
|
rs147445322
|
0.00007
|
NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu)
|
rs199473545
|
0.00007
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000251.3(MSH2):c.818T>C (p.Val273Ala)
|
rs144288433
|
0.00007
|
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)
|
rs199728019
|
0.00007
|
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)
|
rs727504378
|
0.00007
|
NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys)
|
rs368180702
|
0.00007
|
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)
|
rs202147520
|
0.00007
|
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys)
|
rs397516075
|
0.00007
|
NM_000256.3(MYBPC3):c.844C>T (p.Arg282Trp)
|
rs727504234
|
0.00007
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys)
|
rs141641980
|
0.00007
|
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)
|
rs148647933
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_001035.3(RYR2):c.13329-3T>C
|
rs542440592
|
0.00007
|
NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg)
|
rs569386030
|
0.00007
|
NM_001122659.3(EDNRB):c.758G>A (p.Arg253Gln)
|
rs140514830
|
0.00007
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn)
|
rs267607103
|
0.00007
|
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)
|
rs397517795
|
0.00007
|
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)
|
rs727503652
|
0.00007
|
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His)
|
rs397517524
|
0.00007
|
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile)
|
rs369932282
|
0.00007
|
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)
|
rs571348685
|
0.00007
|
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)
|
rs145308734
|
0.00007
|
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)
|
rs727503604
|
0.00007
|
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)
|
rs375000725
|
0.00007
|
NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln)
|
rs397517651
|
0.00007
|
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His)
|
rs727503585
|
0.00007
|
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His)
|
rs372267046
|
0.00007
|
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr)
|
rs375202101
|
0.00007
|
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro)
|
rs369671334
|
0.00007
|
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met)
|
rs144398602
|
0.00007
|
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln)
|
rs370367786
|
0.00007
|
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His)
|
rs369899675
|
0.00007
|
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu)
|
rs33997263
|
0.00007
|
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)
|
rs397517775
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_001292063.2(OTOG):c.421C>T (p.Arg141Trp)
|
rs752392477
|
0.00007
|
NM_001292063.2(OTOG):c.4820C>T (p.Ser1607Leu)
|
rs867891665
|
0.00007
|
NM_001379180.1(ESRRB):c.689-10G>A
|
rs534216019
|
0.00007
|
NM_002230.4(JUP):c.356C>T (p.Pro119Leu)
|
rs376123010
|
0.00007
|
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)
|
rs375788626
|
0.00007
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser)
|
rs397516747
|
0.00007
|
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp)
|
rs372736126
|
0.00007
|
NM_002471.4(MYH6):c.679G>A (p.Ala227Thr)
|
rs201828188
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)
|
rs750349613
|
0.00007
|
NM_004100.5(EYA4):c.1739-118G>A
|
rs757084701
|
0.00007
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
NM_005422.4(TECTA):c.2967C>A (p.His989Gln)
|
rs200821009
|
0.00007
|
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala)
|
rs200544452
|
0.00007
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
NM_006005.3(WFS1):c.1633G>A (p.Val545Met)
|
rs201993978
|
0.00007
|
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala)
|
rs376214235
|
0.00007
|
NM_006231.4(POLE):c.5278G>A (p.Val1760Met)
|
rs373272795
|
0.00007
|
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala)
|
rs145108467
|
0.00007
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
NM_013296.5(GPSM2):c.57-10A>G
|
rs184863735
|
0.00007
|
NM_015404.4(WHRN):c.1349G>A (p.Arg450His)
|
rs200377723
|
0.00007
|
NM_016239.4(MYO15A):c.370G>A (p.Ala124Thr)
|
rs576041753
|
0.00007
|
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)
|
rs376351191
|
0.00007
|
NM_016239.4(MYO15A):c.9982A>C (p.Ser3328Arg)
|
rs376470294
|
0.00007
|
NM_017433.5(MYO3A):c.2918G>A (p.Arg973Gln)
|
rs142974032
|
0.00007
|
NM_022124.6(CDH23):c.4664G>A (p.Arg1555His)
|
rs727502927
|
0.00007
|
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp)
|
rs397517333
|
0.00007
|
NM_022124.6(CDH23):c.9381-123C>A
|
rs775172553
|
0.00007
|
NM_032119.4(ADGRV1):c.9466A>G (p.Ile3156Val)
|
rs372484022
|
0.00007
|
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile)
|
rs201180712
|
0.00007
|
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln)
|
rs201806320
|
0.00007
|
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala)
|
rs374000722
|
0.00007
|
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)
|
rs369486891
|
0.00007
|
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp)
|
rs368903400
|
0.00007
|
NM_170682.4(P2RX2):c.943C>T (p.Arg315Cys)
|
rs761180947
|
0.00007
|
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)
|
rs199672621
|
0.00007
|
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
0.00006
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys)
|
rs555143841
|
0.00006
|
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu)
|
rs200411532
|
0.00006
|
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp)
|
rs372689133
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp)
|
rs397515876
|
0.00006
|
NM_000218.3(KCNQ1):c.1888C>T (p.Pro630Ser)
|
rs199472822
|
0.00006
|
NM_000219.6(KCNE1):c.-3del
|
rs397515878
|
0.00006
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys)
|
rs368770848
|
0.00006
|
NM_000256.3(MYBPC3):c.1458-7C>T
|
rs397515904
|
0.00006
|
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys)
|
rs397515956
|
0.00006
|
NM_000256.3(MYBPC3):c.2518G>A (p.Val840Met)
|
rs376936056
|
0.00006
|
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln)
|
rs730880623
|
0.00006
|
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser)
|
rs727503270
|
0.00006
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met)
|
rs371552806
|
0.00006
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr)
|
rs397516275
|
0.00006
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00006
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys)
|
rs370232066
|
0.00006
|
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)
|
rs781537330
|
0.00006
|
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)
|
rs748094394
|
0.00006
|
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys)
|
rs199473048
|
0.00006
|
NM_000335.5(SCN5A):c.3032C>T (p.Pro1011Leu)
|
rs369249772
|
0.00006
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr)
|
rs771018427
|
0.00006
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)
|
rs149306841
|
0.00006
|
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)
|
rs28943590
|
0.00006
|
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)
|
rs372116042
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met)
|
rs144691257
|
0.00006
|
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)
|
rs148830698
|
0.00006
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_000535.7(PMS2):c.1233A>T (p.Glu411Asp)
|
rs587780040
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met)
|
rs568123980
|
0.00006
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
NM_001032283.3(TMPO):c.565+1328G>T
|
rs369208265
|
0.00006
|
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu)
|
rs397516522
|
0.00006
|
NM_001035.3(RYR2):c.4596+4C>T
|
rs397516532
|
0.00006
|
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)
|
rs370331492
|
0.00006
|
NM_001038603.3(MARVELD2):c.1006C>T (p.Arg336Trp)
|
rs779060557
|
0.00006
|
NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp)
|
rs145027254
|
0.00006
|
NM_001039141.3(TRIOBP):c.5266C>T (p.Arg1756Trp)
|
rs774610362
|
0.00006
|
NM_001039141.3(TRIOBP):c.6248G>A (p.Arg2083His)
|
rs185791823
|
0.00006
|
NM_001039213.4(CEACAM16):c.61G>A (p.Glu21Lys)
|
rs368296153
|
0.00006
|
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr)
|
rs370677725
|
0.00006
|
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=)
|
rs141988342
|
0.00006
|
NM_001105206.3(LAMA4):c.4168C>T (p.Arg1390Trp)
|
rs200189282
|
0.00006
|
NM_001105206.3(LAMA4):c.4679G>A (p.Arg1560Gln)
|
rs397516732
|
0.00006
|
NM_001134363.3(RBM20):c.3574-7T>G
|
rs397516616
|
0.00006
|
NM_001145809.2(MYH14):c.4297G>A (p.Glu1433Lys)
|
rs771755654
|
0.00006
|
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys)
|
rs200818171
|
0.00006
|
NM_001164508.2(NEB):c.23742+2T>C
|
rs545937015
|
0.00006
|
NM_001195263.2(PDZD7):c.1485C>A (p.Ser495Arg)
|
rs766182369
|
0.00006
|
NM_001199799.2(ILDR1):c.1357C>T (p.Arg453Trp)
|
rs376986803
|
0.00006
|
NM_001199799.2(ILDR1):c.929T>G (p.Phe310Cys)
|
rs199882599
|
0.00006
|
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly)
|
rs397516640
|
0.00006
|
NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met)
|
rs145766262
|
0.00006
|
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp)
|
rs200716930
|
0.00006
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile)
|
rs727505306
|
0.00006
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
0.00006
|
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)
|
rs199663911
|
0.00006
|
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn)
|
rs200348414
|
0.00006
|
NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr)
|
rs763065439
|
0.00006
|
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val)
|
rs397517487
|
0.00006
|
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu)
|
rs727505256
|
0.00006
|
NM_001267550.2(TTN):c.18653T>G (p.Leu6218Arg)
|
rs727505193
|
0.00006
|
NM_001267550.2(TTN):c.22241-5T>C
|
rs397517501
|
0.00006
|
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu)
|
rs188234466
|
0.00006
|
NM_001267550.2(TTN):c.32198-10T>C
|
rs371121439
|
0.00006
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile)
|
rs375735354
|
0.00006
|
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)
|
rs369623392
|
0.00006
|
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)
|
rs199910114
|
0.00006
|
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala)
|
rs773027240
|
0.00006
|
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser)
|
rs766074604
|
0.00006
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu)
|
rs727505345
|
0.00006
|
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp)
|
rs727504479
|
0.00006
|
NM_001267550.2(TTN):c.62459T>C (p.Ile20820Thr)
|
rs369446270
|
0.00006
|
NM_001267550.2(TTN):c.63800C>T (p.Pro21267Leu)
|
rs200365508
|
0.00006
|
NM_001267550.2(TTN):c.63887G>A (p.Ser21296Asn)
|
rs727503583
|
0.00006
|
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)
|
rs777009984
|
0.00006
|
NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp)
|
rs142926566
|
0.00006
|
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg)
|
rs727505213
|
0.00006
|
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser)
|
rs529055709
|
0.00006
|
NM_001267550.2(TTN):c.83978C>A (p.Thr27993Asn)
|
rs377614000
|
0.00006
|
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser)
|
rs727504693
|
0.00006
|
NM_001267550.2(TTN):c.89375C>T (p.Thr29792Ile)
|
rs876658091
|
0.00006
|
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)
|
rs570464905
|
0.00006
|
NM_001267550.2(TTN):c.99517T>A (p.Cys33173Ser)
|
rs773021609
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001292063.2(OTOG):c.1546C>T (p.Arg516Cys)
|
rs755375116
|
0.00006
|
NM_001292063.2(OTOG):c.1793G>A (p.Arg598His)
|
rs1032491736
|
0.00006
|
NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly)
|
rs941077657
|
0.00006
|
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys)
|
rs374613600
|
0.00006
|
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe)
|
rs767853104
|
0.00006
|
NM_001369.3(DNAH5):c.5485-11A>G
|
rs372860402
|
0.00006
|
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val)
|
rs727505275
|
0.00006
|
NM_001378609.3(OTOGL):c.1714A>G (p.Ile572Val)
|
rs942588475
|
0.00006
|
NM_001378609.3(OTOGL):c.2945A>C (p.Asp982Ala)
|
rs774797627
|
0.00006
|
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val)
|
rs374368341
|
0.00006
|
NM_001378609.3(OTOGL):c.4860G>A (p.Lys1620=)
|
rs753442959
|
0.00006
|
NM_001379180.1(ESRRB):c.626G>A (p.Arg209Gln)
|
rs201691455
|
0.00006
|
NM_001384140.1(PCDH15):c.2396G>A (p.Arg799His)
|
rs199824864
|
0.00006
|
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala)
|
rs397517454
|
0.00006
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
NM_001384140.1(PCDH15):c.4671+1616G>A
|
rs371191414
|
0.00006
|
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg)
|
rs201496062
|
0.00006
|
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys)
|
rs200798008
|
0.00006
|
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu)
|
rs755485250
|
0.00006
|
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp)
|
rs397517861
|
0.00006
|
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr)
|
rs371252446
|
0.00006
|
NM_001384474.1(LOXHD1):c.3461G>A (p.Gly1154Asp)
|
rs727503142
|
0.00006
|
NM_001384474.1(LOXHD1):c.4376-6G>A
|
rs369463541
|
0.00006
|
NM_001384474.1(LOXHD1):c.4741-11C>G
|
rs181095005
|
0.00006
|
NM_001384474.1(LOXHD1):c.5400-7C>G
|
rs376131738
|
0.00006
|
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg)
|
rs727504988
|
0.00006
|
NM_001384474.1(LOXHD1):c.5911G>T (p.Asp1971Tyr)
|
rs727504544
|
0.00006
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
NM_001692.4(ATP6V1B1):c.362T>A (p.Met121Lys)
|
rs201325403
|
0.00006
|
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln)
|
rs145196117
|
0.00006
|
NM_001692.4(ATP6V1B1):c.941G>A (p.Arg314His)
|
rs782110679
|
0.00006
|
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln)
|
rs148429410
|
0.00006
|
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)
|
rs372494397
|
0.00006
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
NM_002230.4(JUP):c.530G>A (p.Arg177Gln)
|
rs371481933
|
0.00006
|
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg)
|
rs367663906
|
0.00006
|
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)
|
rs149650190
|
0.00006
|
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys)
|
rs397516762
|
0.00006
|
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys)
|
rs397516771
|
0.00006
|
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp)
|
rs111473291
|
0.00006
|
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp)
|
rs375955867
|
0.00006
|
NM_002691.4(POLD1):c.1696G>A (p.Glu566Lys)
|
rs372429157
|
0.00006
|
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp)
|
rs780138978
|
0.00006
|
NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly)
|
rs727504413
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_002906.4(RDX):c.790G>C (p.Ala264Pro)
|
rs201031650
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr)
|
rs145300736
|
0.00006
|
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)
|
rs185980145
|
0.00006
|
NM_003803.4(MYOM1):c.2428C>T (p.Arg810Trp)
|
rs776727177
|
0.00006
|
NM_004006.3(DMD):c.*24G>A
|
rs372284841
|
0.00006
|
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys)
|
rs146384458
|
0.00006
|
NM_004006.3(DMD):c.43G>C (p.Asp15His)
|
rs876657780
|
0.00006
|
NM_004086.3(COCH):c.373+4G>A
|
rs376255896
|
0.00006
|
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg)
|
rs758076073
|
0.00006
|
NM_004281.4(BAG3):c.-4C>T
|
rs727502894
|
0.00006
|
NM_004281.4(BAG3):c.400T>A (p.Ser134Thr)
|
rs375257731
|
0.00006
|
NM_004281.4(BAG3):c.785C>T (p.Ala262Val)
|
rs397516883
|
0.00006
|
NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu)
|
rs377218278
|
0.00006
|
NM_004999.4(MYO6):c.1748C>T (p.Ala583Val)
|
rs766684928
|
0.00006
|
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys)
|
rs200205409
|
0.00006
|
NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp)
|
rs189411232
|
0.00006
|
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln)
|
rs200004048
|
0.00006
|
NM_005379.4(MYO1A):c.1055G>A (p.Arg352His)
|
rs727504566
|
0.00006
|
NM_005422.4(TECTA):c.1123G>A (p.Val375Ile)
|
rs752254649
|
0.00006
|
NM_005422.4(TECTA):c.1621G>A (p.Val541Met)
|
rs370652301
|
0.00006
|
NM_005422.4(TECTA):c.2749G>A (p.Asp917Asn)
|
rs145852265
|
0.00006
|
NM_005422.4(TECTA):c.5296G>A (p.Val1766Met)
|
rs781245536
|
0.00006
|
NM_005422.4(TECTA):c.5861C>T (p.Thr1954Met)
|
rs542600464
|
0.00006
|
NM_005548.3(KARS1):c.5C>T (p.Ala2Val)
|
rs773811440
|
0.00006
|
NM_005633.4(SOS1):c.929G>A (p.Arg310His)
|
rs143481916
|
0.00006
|
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys)
|
rs181988441
|
0.00006
|
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr)
|
rs138771366
|
0.00006
|
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys)
|
rs201623184
|
0.00006
|
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln)
|
rs140667597
|
0.00006
|
NM_006005.3(WFS1):c.449C>T (p.Ala150Val)
|
rs113651985
|
0.00006
|
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser)
|
rs749342382
|
0.00006
|
NM_006393.3(NEBL):c.2346+6G>A
|
rs201822024
|
0.00006
|
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile)
|
rs367986765
|
0.00006
|
NM_006941.4(SOX10):c.773G>A (p.Arg258Gln)
|
rs748234376
|
0.00006
|
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg)
|
rs566463138
|
0.00006
|
NM_012208.4(HARS2):c.502C>T (p.Arg168Cys)
|
rs761054820
|
0.00006
|
NM_013296.5(GPSM2):c.593G>A (p.Arg198Gln)
|
rs371700490
|
0.00006
|
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly)
|
rs779008975
|
0.00006
|
NM_015340.4(LARS2):c.180G>C (p.Glu60Asp)
|
rs199568924
|
0.00006
|
NM_015340.4(LARS2):c.1814G>A (p.Arg605His)
|
rs142665087
|
0.00006
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00006
|
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)
|
rs182750960
|
0.00006
|
NM_016239.4(MYO15A):c.215G>A (p.Arg72His)
|
rs759523877
|
0.00006
|
NM_016239.4(MYO15A):c.467T>C (p.Val156Ala)
|
rs761670755
|
0.00006
|
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys)
|
rs191828237
|
0.00006
|
NM_016239.4(MYO15A):c.5210G>A (p.Arg1737Gln)
|
rs369518617
|
0.00006
|
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln)
|
rs769596933
|
0.00006
|
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys)
|
rs374485649
|
0.00006
|
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn)
|
rs374160194
|
0.00006
|
NM_017433.5(MYO3A):c.2803A>C (p.Met935Leu)
|
rs375958934
|
0.00006
|
NM_017433.5(MYO3A):c.3007C>T (p.Leu1003Phe)
|
rs776675167
|
0.00006
|
NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met)
|
rs137907278
|
0.00006
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
NM_021116.4(ADCY1):c.790-3C>T
|
rs76595582
|
0.00006
|
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn)
|
rs200792189
|
0.00006
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys)
|
rs771795434
|
0.00006
|
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met)
|
rs201884261
|
0.00006
|
NM_022124.6(CDH23):c.4582G>A (p.Glu1528Lys)
|
rs201533282
|
0.00006
|
NM_022124.6(CDH23):c.460G>A (p.Val154Met)
|
rs199741966
|
0.00006
|
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His)
|
rs111033491
|
0.00006
|
NM_022124.6(CDH23):c.6050-15G>A
|
rs373838930
|
0.00006
|
NM_022124.6(CDH23):c.7568C>T (p.Pro2523Leu)
|
rs369761606
|
0.00006
|
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu)
|
rs758360283
|
0.00006
|
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys)
|
rs727505254
|
0.00006
|
NM_022124.6(CDH23):c.9883A>C (p.Thr3295Pro)
|
rs781716568
|
0.00006
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr)
|
rs200733236
|
0.00006
|
NM_024009.3(GJB3):c.293G>A (p.Arg98His)
|
rs201314683
|
0.00006
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)
|
rs202205304
|
0.00006
|
NM_031475.3(ESPN):c.1094C>T (p.Pro365Leu)
|
rs201251427
|
0.00006
|
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys)
|
rs371970388
|
0.00006
|
NM_032119.4(ADGRV1):c.13600A>G (p.Met4534Val)
|
rs761667882
|
0.00006
|
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)
|
rs369108080
|
0.00006
|
NM_032119.4(ADGRV1):c.17204+4A>G
|
rs376691612
|
0.00006
|
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser)
|
rs397517427
|
0.00006
|
NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met)
|
rs1264693693
|
0.00006
|
NM_032229.3(SLITRK6):c.1102C>T (p.Leu368Phe)
|
rs1053146634
|
0.00006
|
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser)
|
rs550455783
|
0.00006
|
NM_032578.4(MYPN):c.2507C>T (p.Ser836Phe)
|
rs376141715
|
0.00006
|
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met)
|
rs750655311
|
0.00006
|
NM_033118.4(MYLK2):c.463A>T (p.Ile155Phe)
|
rs140233643
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
NM_080680.3(COL11A2):c.3583-3C>T
|
rs727502939
|
0.00006
|
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His)
|
rs772567850
|
0.00006
|
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys)
|
rs727504458
|
0.00006
|
NM_133379.5(TTN):c.13204C>T (p.Leu4402Phe)
|
rs370602665
|
0.00006
|
NM_133379.5(TTN):c.13984A>G (p.Ile4662Val)
|
rs374783099
|
0.00006
|
NM_133379.5(TTN):c.14295T>G (p.His4765Gln)
|
rs140366460
|
0.00006
|
NM_138691.3(TMC1):c.339G>A (p.Met113Ile)
|
rs397517840
|
0.00006
|
NM_138691.3(TMC1):c.472C>T (p.Arg158Cys)
|
rs200841002
|
0.00006
|
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)
|
rs368812830
|
0.00006
|
NM_144573.4(NEXN):c.447+5C>T
|
rs727503343
|
0.00006
|
NM_144672.4(OTOA):c.131T>C (p.Ile44Thr)
|
rs730882117
|
0.00006
|
NM_147196.3(TMIE):c.101C>T (p.Thr34Met)
|
rs763490939
|
0.00006
|
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro)
|
rs367952604
|
0.00006
|
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)
|
rs371626423
|
0.00006
|
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)
|
rs397517877
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_178335.3(CCDC50):c.546G>C (p.Glu182Asp)
|
rs201472875
|
0.00006
|
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
|
rs769223754
|
0.00006
|
NM_182548.4(LHFPL5):c.472C>T (p.Arg158Trp)
|
rs753739358
|
0.00006
|
NM_194248.3(OTOF):c.3091A>G (p.Ile1031Val)
|
rs113433719
|
0.00006
|
NM_194248.3(OTOF):c.388G>A (p.Asp130Asn)
|
rs756143591
|
0.00006
|
NM_194248.3(OTOF):c.959C>T (p.Ser320Leu)
|
rs371666216
|
0.00006
|
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln)
|
rs376555091
|
0.00006
|
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile)
|
rs149793143
|
0.00006
|
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr)
|
rs183979371
|
0.00006
|
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys)
|
rs727503718
|
0.00006
|
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)
|
rs150900847
|
0.00006
|
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)
|
rs148674752
|
0.00006
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val)
|
rs727503732
|
0.00006
|
NM_206933.4(USH2A):c.5783T>C (p.Leu1928Pro)
|
rs111033399
|
0.00006
|
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val)
|
rs773405046
|
0.00006
|
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser)
|
rs756041909
|
0.00006
|
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys)
|
rs375278546
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NC_000007.14:g.107660715C>T
|
rs555168273
|
0.00005
|
NM_000038.6(APC):c.4424C>T (p.Ala1475Val)
|
rs375380414
|
0.00005
|
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr)
|
rs745815071
|
0.00005
|
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His)
|
rs768326843
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg)
|
rs199473484
|
0.00005
|
NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu)
|
rs199472735
|
0.00005
|
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys)
|
rs199473464
|
0.00005
|
NM_000219.6(KCNE1):c.-5C>A
|
rs191334763
|
0.00005
|
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)
|
rs76420733
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
NM_000256.3(MYBPC3):c.1227-10C>T
|
rs374673836
|
0.00005
|
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr)
|
rs727503198
|
0.00005
|
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp)
|
rs201596087
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000256.3(MYBPC3):c.3190+4C>T
|
rs571457875
|
0.00005
|
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)
|
rs117354682
|
0.00005
|
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)
|
rs375774648
|
0.00005
|
NM_000257.4(MYH7):c.5559+4C>T
|
rs727504319
|
0.00005
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
NM_000260.4(MYO7A):c.4735G>A (p.Glu1579Lys)
|
rs374766654
|
0.00005
|
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys)
|
rs762836180
|
0.00005
|
NM_000292.3(PHKA2):c.1042-12G>C
|
rs747884026
|
0.00005
|
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)
|
rs199473128
|
0.00005
|
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn)
|
rs199473195
|
0.00005
|
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)
|
rs267607159
|
0.00005
|
NM_000441.2(SLC26A4):c.2242C>G (p.Leu748Val)
|
rs727504813
|
0.00005
|
NM_000503.6(EYA1):c.299C>A (p.Thr100Asn)
|
rs373501480
|
0.00005
|
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp)
|
rs727503049
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln)
|
rs747605864
|
0.00005
|
NM_001038.6(SCNN1A):c.-23C>G
|
rs377074479
|
0.00005
|
NM_001038603.3(MARVELD2):c.1438C>G (p.Leu480Val)
|
rs767671073
|
0.00005
|
NM_001039141.3(TRIOBP):c.6776G>A (p.Arg2259His)
|
rs554837585
|
0.00005
|
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn)
|
rs587780746
|
0.00005
|
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp)
|
rs886042627
|
0.00005
|
NM_001080476.3(GRXCR1):c.231G>T (p.Gln77His)
|
rs368876169
|
0.00005
|
NM_001105206.3(LAMA4):c.5380C>T (p.Arg1794Cys)
|
rs781802725
|
0.00005
|
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
|
rs764262721
|
0.00005
|
NM_001127453.2(GSDME):c.686dup (p.Asp229fs)
|
rs777408599
|
0.00005
|
NM_001128840.3(CACNA1D):c.2254G>A (p.Val752Ile)
|
rs962492548
|
0.00005
|
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)
|
rs372567331
|
0.00005
|
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp)
|
rs397516599
|
0.00005
|
NM_001145809.2(MYH14):c.1174C>T (p.Arg392Trp)
|
rs778312429
|
0.00005
|
NM_001145809.2(MYH14):c.1265C>G (p.Ala422Gly)
|
rs372324948
|
0.00005
|
NM_001145809.2(MYH14):c.2458C>T (p.Arg820Cys)
|
rs767984672
|
0.00005
|
NM_001145809.2(MYH14):c.3623C>T (p.Ala1208Val)
|
rs758560911
|
0.00005
|
NM_001146079.2(CLDN14):c.273G>A (p.Ser91=)
|
rs577393948
|
0.00005
|
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser)
|
rs368583838
|
0.00005
|
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val)
|
rs764732977
|
0.00005
|
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)
|
rs766439271
|
0.00005
|
NM_001267550.2(TTN):c.103910G>A (p.Arg34637Gln)
|
rs199642423
|
0.00005
|
NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met)
|
rs377056111
|
0.00005
|
NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys)
|
rs397517827
|
0.00005
|
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln)
|
rs375652574
|
0.00005
|
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn)
|
rs727505052
|
0.00005
|
NM_001267550.2(TTN):c.28466G>A (p.Arg9489Gln)
|
rs189431308
|
0.00005
|
NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys)
|
rs144025230
|
0.00005
|
NM_001267550.2(TTN):c.32803A>G (p.Lys10935Glu)
|
rs397517543
|
0.00005
|
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)
|
rs140760859
|
0.00005
|
NM_001267550.2(TTN):c.49649-11T>C
|
rs727504474
|
0.00005
|
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn)
|
rs876658064
|
0.00005
|
NM_001267550.2(TTN):c.53924C>G (p.Thr17975Ser)
|
rs727503605
|
0.00005
|
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln)
|
rs376932266
|
0.00005
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
NM_001267550.2(TTN):c.54381+6C>G
|
rs368265962
|
0.00005
|
NM_001267550.2(TTN):c.56296G>C (p.Ala18766Pro)
|
rs727505268
|
0.00005
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00005
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys)
|
rs376455983
|
0.00005
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
NM_001267550.2(TTN):c.66959G>A (p.Arg22320His)
|
rs771424865
|
0.00005
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)
|
rs367914610
|
0.00005
|
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)
|
rs372787601
|
0.00005
|
NM_001267550.2(TTN):c.74545C>T (p.Arg24849Trp)
|
rs727503562
|
0.00005
|
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)
|
rs376037252
|
0.00005
|
NM_001267550.2(TTN):c.84362C>A (p.Thr28121Lys)
|
rs397517726
|
0.00005
|
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His)
|
rs397517744
|
0.00005
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser)
|
rs750213547
|
0.00005
|
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)
|
rs376039623
|
0.00005
|
NM_001267550.2(TTN):c.97480C>T (p.Arg32494Cys)
|
rs727503539
|
0.00005
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)
|
rs371531675
|
0.00005
|
NM_001267550.2(TTN):c.99940C>T (p.Pro33314Ser)
|
rs754605294
|
0.00005
|
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)
|
rs141121678
|
0.00005
|
NM_001286445.3(RIPOR2):c.965G>A (p.Arg322Gln)
|
rs745837159
|
0.00005
|
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp)
|
rs755149839
|
0.00005
|
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)
|
rs199706698
|
0.00005
|
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu)
|
rs397517455
|
0.00005
|
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln)
|
rs562377533
|
0.00005
|
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln)
|
rs546893082
|
0.00005
|
NM_001384474.1(LOXHD1):c.5357A>G (p.Asn1786Ser)
|
rs192929296
|
0.00005
|
NM_002230.4(JUP):c.998G>A (p.Arg333His)
|
rs727503099
|
0.00005
|
NM_002294.3(LAMP2):c.158G>A (p.Arg53His)
|
rs397516735
|
0.00005
|
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
|
rs3180515
|
0.00005
|
NM_002471.4(MYH6):c.1582-7C>T
|
rs374941865
|
0.00005
|
NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys)
|
rs727503286
|
0.00005
|
NM_002906.4(RDX):c.1282A>G (p.Ile428Val)
|
rs572843421
|
0.00005
|
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)
|
rs137852765
|
0.00005
|
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)
|
rs397516859
|
0.00005
|
NM_003803.4(MYOM1):c.3278C>T (p.Ala1093Val)
|
rs749676865
|
0.00005
|
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu)
|
rs368866313
|
0.00005
|
NM_004415.4(DSP):c.727-10T>G
|
rs375327581
|
0.00005
|
NM_004415.4(DSP):c.916G>A (p.Ala306Thr)
|
rs368193211
|
0.00005
|
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly)
|
rs773975779
|
0.00005
|
NM_005379.4(MYO1A):c.2572A>G (p.Lys858Glu)
|
rs142017261
|
0.00005
|
NM_005422.4(TECTA):c.2077G>A (p.Gly693Arg)
|
rs200502160
|
0.00005
|
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu)
|
rs199898869
|
0.00005
|
NM_005633.4(SOS1):c.841A>G (p.Ser281Gly)
|
rs397517178
|
0.00005
|
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser)
|
rs751451482
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)
|
rs397517211
|
0.00005
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala)
|
rs377064301
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys)
|
rs142465521
|
0.00005
|
NM_017433.5(MYO3A):c.230A>C (p.Asn77Thr)
|
rs1232229010
|
0.00005
|
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys)
|
rs200149713
|
0.00005
|
NM_022114.4(PRDM16):c.1517C>T (p.Thr506Met)
|
rs368543415
|
0.00005
|
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg)
|
rs372822465
|
0.00005
|
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu)
|
rs771317730
|
0.00005
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779
|
0.00005
|
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp)
|
rs745335831
|
0.00005
|
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn)
|
rs397517472
|
0.00005
|
NM_057176.3(BSND):c.770A>G (p.Gln257Arg)
|
rs199696535
|
0.00005
|
NM_133261.3(GIPC3):c.-15C>T
|
rs1214727223
|
0.00005
|
NM_133379.5(TTN):c.10837G>A (p.Ala3613Thr)
|
rs144967245
|
0.00005
|
NM_133379.5(TTN):c.12536A>C (p.Glu4179Ala)
|
rs568690706
|
0.00005
|
NM_133379.5(TTN):c.14114G>A (p.Arg4705Gln)
|
rs144127396
|
0.00005
|
NM_133379.5(TTN):c.14767A>G (p.Thr4923Ala)
|
rs773571719
|
0.00005
|
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys)
|
rs369890353
|
0.00005
|
NM_144498.4(OSBPL2):c.226G>A (p.Val76Met)
|
rs777865483
|
0.00005
|
NM_144573.4(NEXN):c.865-5G>A
|
rs727505353
|
0.00005
|
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn)
|
rs727503712
|
0.00005
|
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr)
|
rs201104489
|
0.00005
|
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys)
|
rs141771249
|
0.00005
|
NM_153700.2(STRC):c.2494C>T (p.Arg832Trp)
|
rs876658007
|
0.00005
|
NM_153700.2(STRC):c.2495G>A (p.Arg832Gln)
|
rs1425015832
|
0.00005
|
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr)
|
rs727503447
|
0.00005
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
NM_182548.4(LHFPL5):c.648C>T (p.Thr216=)
|
rs17852586
|
0.00005
|
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln)
|
rs147978393
|
0.00005
|
NM_194248.3(OTOF):c.3865-12G>A
|
rs374902867
|
0.00005
|
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527
|
0.00005
|
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)
|
rs201847741
|
0.00005
|
NM_206933.4(USH2A):c.1816G>C (p.Asp606His)
|
rs111033410
|
0.00005
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn)
|
rs764279454
|
0.00004
|
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val)
|
rs780916516
|
0.00004
|
NM_000116.5(TAFAZZIN):c.584-7T>C
|
rs397515745
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000256.3(MYBPC3):c.-10G>A
|
rs567307744
|
0.00004
|
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln)
|
rs397515885
|
0.00004
|
NM_000256.3(MYBPC3):c.1294G>A (p.Ala432Thr)
|
rs371167525
|
0.00004
|
NM_000256.3(MYBPC3):c.2149-8C>G
|
rs397515950
|
0.00004
|
NM_000256.3(MYBPC3):c.2177G>A (p.Arg726His)
|
rs397515953
|
0.00004
|
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu)
|
rs730880565
|
0.00004
|
NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val)
|
rs373171036
|
0.00004
|
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His)
|
rs727503179
|
0.00004
|
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln)
|
rs727504235
|
0.00004
|
NM_000256.3(MYBPC3):c.3052G>C (p.Glu1018Gln)
|
rs372003333
|
0.00004
|
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)
|
rs121909378
|
0.00004
|
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr)
|
rs397516026
|
0.00004
|
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys)
|
rs397516033
|
0.00004
|
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)
|
rs727503216
|
0.00004
|
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn)
|
rs397516106
|
0.00004
|
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val)
|
rs397516138
|
0.00004
|
NM_000257.4(MYH7):c.2425G>T (p.Asp809Tyr)
|
rs397516147
|
0.00004
|
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)
|
rs397516211
|
0.00004
|
NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln)
|
rs779715863
|
0.00004
|
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)
|
rs397516233
|
0.00004
|
NM_000257.4(MYH7):c.503-5C>T
|
rs397516236
|
0.00004
|
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln)
|
rs371855540
|
0.00004
|
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)
|
rs727503242
|
0.00004
|
NM_000258.3(MYL3):c.*5C>T
|
rs727505197
|
0.00004
|
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)
|
rs143852164
|
0.00004
|
NM_000258.3(MYL3):c.466G>A (p.Val156Met)
|
rs199474707
|
0.00004
|
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala)
|
rs369916141
|
0.00004
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln)
|
rs781812509
|
0.00004
|
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His)
|
rs199607235
|
0.00004
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076
|
0.00004
|
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu)
|
rs201321140
|
0.00004
|
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu)
|
rs530520654
|
0.00004
|
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
|
rs781893704
|
0.00004
|
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln)
|
rs41311087
|
0.00004
|
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys)
|
rs199473335
|
0.00004
|
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln)
|
rs199473336
|
0.00004
|
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)
|
rs199473561
|
0.00004
|
NM_000335.5(SCN5A):c.880G>A (p.Val294Met)
|
rs199473086
|
0.00004
|
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)
|
rs137854608
|
0.00004
|
NM_000337.6(SGCD):c.4-12C>T
|
rs727504580
|
0.00004
|
NM_000363.5(TNNI3):c.236G>T (p.Arg79Leu)
|
rs397516342
|
0.00004
|
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)
|
rs149078011
|
0.00004
|
NM_000441.2(SLC26A4):c.463A>G (p.Met155Val)
|
rs201931861
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg)
|
rs34852121
|
0.00004
|
NM_000527.5(LDLR):c.1359-5C>G
|
rs531005522
|
0.00004
|
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)
|
rs72658858
|
0.00004
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln)
|
rs193922860
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val)
|
rs143503798
|
0.00004
|
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln)
|
rs397517020
|
0.00004
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
NM_001013838.3(CARMIL2):c.2672A>C (p.Gln891Pro)
|
rs769736838
|
0.00004
|
NM_001018005.2(TPM1):c.240+4457A>T
|
rs397516489
|
0.00004
|
NM_001018116.2(CAVIN4):c.920G>C (p.Ser307Thr)
|
rs751703046
|
0.00004
|
NM_001032283.3(TMPO):c.614G>A (p.Arg205Lys)
|
rs727504952
|
0.00004
|
NM_001035.3(RYR2):c.10495-14A>G
|
rs727505057
|
0.00004
|
NM_001035.3(RYR2):c.11132T>A (p.Val3711Glu)
|
rs1036775644
|
0.00004
|
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)
|
rs190009333
|
0.00004
|
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe)
|
rs727504508
|
0.00004
|
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr)
|
rs772551383
|
0.00004
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
NM_001035.3(RYR2):c.5494G>A (p.Gly1832Ser)
|
rs727504983
|
0.00004
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln)
|
rs727504976
|
0.00004
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val)
|
rs745839689
|
0.00004
|
NM_001039141.3(TRIOBP):c.5198C>T (p.Pro1733Leu)
|
rs373745908
|
0.00004
|
NM_001039141.3(TRIOBP):c.5519G>A (p.Arg1840His)
|
rs376340052
|
0.00004
|
NM_001039141.3(TRIOBP):c.6196G>A (p.Glu2066Lys)
|
rs564506970
|
0.00004
|
NM_001039141.3(TRIOBP):c.6308C>T (p.Pro2103Leu)
|
rs200250028
|
0.00004
|
NM_001039213.4(CEACAM16):c.1267+1G>A
|
rs766512544
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln)
|
rs727505112
|
0.00004
|
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr)
|
rs143150260
|
0.00004
|
NM_001105206.3(LAMA4):c.1503T>A (p.Asp501Glu)
|
rs370194991
|
0.00004
|
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu)
|
rs727505123
|
0.00004
|
NM_001114753.3(ENG):c.1742-15G>A
|
rs201678228
|
0.00004
|
NM_001134363.3(RBM20):c.1338-11G>A
|
rs372064165
|
0.00004
|
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly)
|
rs561904103
|
0.00004
|
NM_001134363.3(RBM20):c.3574-6C>G
|
rs762069628
|
0.00004
|
NM_001145809.2(MYH14):c.4439G>A (p.Arg1480His)
|
rs187782753
|
0.00004
|
NM_001145809.2(MYH14):c.5530G>A (p.Gly1844Arg)
|
rs375748088
|
0.00004
|
NM_001146079.2(CLDN14):c.83C>T (p.Pro28Leu)
|
rs727504989
|
0.00004
|
NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu)
|
rs369038140
|
0.00004
|
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys)
|
rs767145914
|
0.00004
|
NM_001199799.2(ILDR1):c.352C>T (p.Arg118Trp)
|
rs774128939
|
0.00004
|
NM_001232.4(CASQ2):c.376G>C (p.Asp126His)
|
rs727502908
|
0.00004
|
NM_001267550.2(TTN):c.101822G>C (p.Arg33941Thr)
|
rs762498249
|
0.00004
|
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)
|
rs727505196
|
0.00004
|
NM_001267550.2(TTN):c.10679-10G>C
|
rs397517832
|
0.00004
|
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val)
|
rs373152640
|
0.00004
|
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)
|
rs202017278
|
0.00004
|
NM_001267550.2(TTN):c.16234G>A (p.Ala5412Thr)
|
rs727504442
|
0.00004
|
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His)
|
rs376012117
|
0.00004
|
NM_001267550.2(TTN):c.2084T>C (p.Val695Ala)
|
rs727503702
|
0.00004
|
NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp)
|
rs727504736
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu)
|
rs200061856
|
0.00004
|
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu)
|
rs200598509
|
0.00004
|
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn)
|
rs397517506
|
0.00004
|
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile)
|
rs397517507
|
0.00004
|
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)
|
rs727504515
|
0.00004
|
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp)
|
rs190600127
|
0.00004
|
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)
|
rs570608843
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr)
|
rs369094355
|
0.00004
|
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr)
|
rs769226745
|
0.00004
|
NM_001267550.2(TTN):c.32095+1G>A
|
rs727503636
|
0.00004
|
NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile)
|
rs774557269
|
0.00004
|
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly)
|
rs190461403
|
0.00004
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
NM_001267550.2(TTN):c.41474G>A (p.Arg13825Gln)
|
rs727504774
|
0.00004
|
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)
|
rs397517571
|
0.00004
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00004
|
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)
|
rs397517593
|
0.00004
|
NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe)
|
rs397517641
|
0.00004
|
NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg)
|
rs368846015
|
0.00004
|
NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly)
|
rs397517615
|
0.00004
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
NM_001267550.2(TTN):c.55915G>A (p.Val18639Met)
|
rs727503596
|
0.00004
|
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn)
|
rs576158850
|
0.00004
|
NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln)
|
rs186809500
|
0.00004
|
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)
|
rs397517636
|
0.00004
|
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)
|
rs397517640
|
0.00004
|
NM_001267550.2(TTN):c.62780G>A (p.Arg20927His)
|
rs397517652
|
0.00004
|
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)
|
rs375401971
|
0.00004
|
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)
|
rs374727686
|
0.00004
|
NM_001267550.2(TTN):c.65161T>C (p.Cys21721Arg)
|
rs745497694
|
0.00004
|
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp)
|
rs371856109
|
0.00004
|
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)
|
rs372388682
|
0.00004
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00004
|
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His)
|
rs374712231
|
0.00004
|
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)
|
rs567446185
|
0.00004
|
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)
|
rs397517712
|
0.00004
|
NM_001267550.2(TTN):c.80323G>A (p.Val26775Met)
|
rs370589806
|
0.00004
|
NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr)
|
rs368427408
|
0.00004
|
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val)
|
rs200345129
|
0.00004
|
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)
|
rs727503545
|
0.00004
|
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn)
|
rs267599025
|
0.00004
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys)
|
rs55915651
|
0.00004
|
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly)
|
rs55634230
|
0.00004
|
NM_001267550.2(TTN):c.98161G>A (p.Val32721Ile)
|
rs533651182
|
0.00004
|
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser)
|
rs397516450
|
0.00004
|
NM_001276345.2(TNNT2):c.601-7G>A
|
rs369759523
|
0.00004
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
0.00004
|
NM_001277115.2(DNAH11):c.11267G>A (p.Arg3756His)
|
rs554657293
|
0.00004
|
NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met)
|
rs375341444
|
0.00004
|
NM_001283009.2(RTEL1):c.1596-8G>A
|
rs374702981
|
0.00004
|
NM_001292063.2(OTOG):c.4588C>G (p.Leu1530Val)
|
rs766929865
|
0.00004
|
NM_001292063.2(OTOG):c.6350C>T (p.Ala2117Val)
|
rs535700451
|
0.00004
|
NM_001292063.2(OTOG):c.8653C>T (p.Arg2885Cys)
|
rs185641221
|
0.00004
|
NM_001330691.3(CEP78):c.284G>A (p.Arg95His)
|
rs371010271
|
0.00004
|
NM_001354604.2(MITF):c.666+5T>C
|
rs374067688
|
0.00004
|
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)
|
rs121908335
|
0.00004
|
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)
|
rs746662023
|
0.00004
|
NM_001376256.1(CRYM):c.343A>G (p.Ile115Val)
|
rs201490017
|
0.00004
|
NM_001378609.3(OTOGL):c.3484G>A (p.Glu1162Lys)
|
rs374891321
|
0.00004
|
NM_001378609.3(OTOGL):c.6901A>G (p.Thr2301Ala)
|
rs778901457
|
0.00004
|
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)
|
rs373453298
|
0.00004
|
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu)
|
rs374205826
|
0.00004
|
NM_001384140.1(PCDH15):c.2936T>C (p.Phe979Ser)
|
rs150891423
|
0.00004
|
NM_001384140.1(PCDH15):c.3667A>T (p.Ile1223Phe)
|
rs752490775
|
0.00004
|
NM_001384474.1(LOXHD1):c.4190G>A (p.Arg1397His)
|
rs727505122
|
0.00004
|
NM_001384474.1(LOXHD1):c.6197C>T (p.Thr2066Met)
|
rs368303635
|
0.00004
|
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe)
|
rs563899816
|
0.00004
|
NM_001386795.1(DTNA):c.1346+5G>C
|
rs397517448
|
0.00004
|
NM_001393500.2(TOMT):c.92T>G (p.Val31Gly)
|
rs574631765
|
0.00004
|
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)
|
rs200653747
|
0.00004
|
NM_001613.4(ACTA2):c.607G>A (p.Val203Ile)
|
rs397516684
|
0.00004
|
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter)
|
rs201045495
|
0.00004
|
NM_001927.4(DES):c.937G>A (p.Ala313Thr)
|
rs766252091
|
0.00004
|
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn)
|
rs397516701
|
0.00004
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr)
|
rs368257724
|
0.00004
|
NM_001943.5(DSG2):c.208A>G (p.Ile70Val)
|
rs769713919
|
0.00004
|
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)
|
rs201845396
|
0.00004
|
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys)
|
rs727502992
|
0.00004
|
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile)
|
rs767538450
|
0.00004
|
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys)
|
rs2848673
|
0.00004
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
NM_002230.4(JUP):c.1331G>A (p.Arg444His)
|
rs369507567
|
0.00004
|
NM_002230.4(JUP):c.2105G>A (p.Arg702His)
|
rs200690479
|
0.00004
|
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile)
|
rs141574558
|
0.00004
|
NM_002294.3(LAMP2):c.65-13T>A
|
rs727503121
|
0.00004
|
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr)
|
rs556536964
|
0.00004
|
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His)
|
rs533942127
|
0.00004
|
NM_002471.4(MYH6):c.5485G>C (p.Glu1829Gln)
|
rs727504626
|
0.00004
|
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val)
|
rs373076710
|
0.00004
|
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn)
|
rs374692396
|
0.00004
|
NM_002473.6(MYH9):c.2159+6C>T
|
rs748916231
|
0.00004
|
NM_002473.6(MYH9):c.2714G>A (p.Arg905His)
|
rs727503289
|
0.00004
|
NM_002524.5(NRAS):c.291-8G>A
|
rs376187980
|
0.00004
|
NM_002880.4(RAF1):c.1663G>C (p.Asp555His)
|
rs371704292
|
0.00004
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
NM_003036.4(SKI):c.1456G>A (p.Val486Ile)
|
rs200717031
|
0.00004
|
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)
|
rs150022335
|
0.00004
|
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met)
|
rs142019584
|
0.00004
|
NM_003803.4(MYOM1):c.3125C>T (p.Pro1042Leu)
|
rs761951856
|
0.00004
|
NM_003803.4(MYOM1):c.3523T>G (p.Tyr1175Asp)
|
rs370276820
|
0.00004
|
NM_004004.6(GJB2):c.-30C>T
|
rs397516867
|
0.00004
|
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)
|
rs397516875
|
0.00004
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
0.00004
|
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)
|
rs777510517
|
0.00004
|
NM_004006.3(DMD):c.1159A>G (p.Met387Val)
|
rs770202940
|
0.00004
|
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu)
|
rs144717862
|
0.00004
|
NM_004006.3(DMD):c.6118-13T>G
|
rs750033728
|
0.00004
|
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala)
|
rs181284440
|
0.00004
|
NM_004100.5(EYA4):c.1223G>A (p.Arg408His)
|
rs760787542
|
0.00004
|
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg)
|
rs727503050
|
0.00004
|
NM_004100.5(EYA4):c.529G>A (p.Val177Ile)
|
rs776409783
|
0.00004
|
NM_004281.4(BAG3):c.181-15C>T
|
rs397516882
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr)
|
rs397516928
|
0.00004
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu)
|
rs397516947
|
0.00004
|
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)
|
rs550818559
|
0.00004
|
NM_004415.4(DSP):c.596G>A (p.Arg199Lys)
|
rs143648545
|
0.00004
|
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr)
|
rs144539278
|
0.00004
|
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr)
|
rs371129517
|
0.00004
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
NM_004817.4(TJP2):c.904C>T (p.Arg302Trp)
|
rs397516631
|
0.00004
|
NM_004985.5(KRAS):c.451-5518T>C
|
rs752925099
|
0.00004
|
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)
|
rs397517057
|
0.00004
|
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp)
|
rs371850672
|
0.00004
|
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)
|
rs533554769
|
0.00004
|
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp)
|
rs397507497
|
0.00004
|
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln)
|
rs374672276
|
0.00004
|
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys)
|
rs746795014
|
0.00004
|
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg)
|
rs374788809
|
0.00004
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
NM_005379.4(MYO1A):c.1678C>G (p.Pro560Ala)
|
rs140586750
|
0.00004
|
NM_005422.4(TECTA):c.1327C>T (p.His443Tyr)
|
rs745831106
|
0.00004
|
NM_005422.4(TECTA):c.2794G>C (p.Val932Leu)
|
rs200340759
|
0.00004
|
NM_005422.4(TECTA):c.358G>T (p.Ala120Ser)
|
rs370688947
|
0.00004
|
NM_005422.4(TECTA):c.5007G>T (p.Gln1669His)
|
rs1047688327
|
0.00004
|
NM_005422.4(TECTA):c.613G>C (p.Val205Leu)
|
rs375107647
|
0.00004
|
NM_005422.4(TECTA):c.956C>A (p.Thr319Asn)
|
rs372483012
|
0.00004
|
NM_005472.5(KCNE3):c.2T>C (p.Met1Thr)
|
rs765329541
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)
|
rs727504641
|
0.00004
|
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr)
|
rs151244358
|
0.00004
|
NM_006005.3(WFS1):c.2299A>C (p.Ile767Leu)
|
rs779199009
|
0.00004
|
NM_006079.5(CITED2):c.382C>T (p.Pro128Ser)
|
rs767546559
|
0.00004
|
NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr)
|
rs748522633
|
0.00004
|
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr)
|
rs373468985
|
0.00004
|
NM_006231.4(POLE):c.6135C>T (p.Pro2045=)
|
rs368662693
|
0.00004
|
NM_006329.4(FBLN5):c.1318C>T (p.Arg440Trp)
|
rs373274789
|
0.00004
|
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys)
|
rs146198369
|
0.00004
|
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser)
|
rs375569591
|
0.00004
|
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe)
|
rs543765307
|
0.00004
|
NM_006393.3(NEBL):c.561G>C (p.Gln187His)
|
rs75301590
|
0.00004
|
NM_007078.3(LDB3):c.530C>T (p.Ala177Val)
|
rs397517224
|
0.00004
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
NM_014000.3(VCL):c.185T>C (p.Val62Ala)
|
rs769799445
|
0.00004
|
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)
|
rs565398652
|
0.00004
|
NM_014000.3(VCL):c.3092G>A (p.Arg1031Gln)
|
rs397517238
|
0.00004
|
NM_014000.3(VCL):c.3373C>T (p.Arg1125Cys)
|
rs373317423
|
0.00004
|
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg)
|
rs397517266
|
0.00004
|
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys)
|
rs730880989
|
0.00004
|
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu)
|
rs876657963
|
0.00004
|
NM_016239.4(MYO15A):c.754C>G (p.His252Asp)
|
rs747721069
|
0.00004
|
NM_016239.4(MYO15A):c.9025C>T (p.Pro3009Ser)
|
rs751006503
|
0.00004
|
NM_016239.4(MYO15A):c.9329G>A (p.Arg3110Gln)
|
rs199900657
|
0.00004
|
NM_016366.3(CABP2):c.32G>A (p.Arg11Gln)
|
rs201383534
|
0.00004
|
NM_017433.5(MYO3A):c.3086A>G (p.Asp1029Gly)
|
rs374226960
|
0.00004
|
NM_017433.5(MYO3A):c.4094A>C (p.Gln1365Pro)
|
rs528252728
|
0.00004
|
NM_017433.5(MYO3A):c.743C>G (p.Pro248Arg)
|
rs780657075
|
0.00004
|
NM_017460.6(CYP3A4):c.1463C>A (p.Pro488His)
|
rs765598920
|
0.00004
|
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr)
|
rs368609862
|
0.00004
|
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val)
|
rs1329751221
|
0.00004
|
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu)
|
rs113938624
|
0.00004
|
NM_017950.4(CCDC40):c.940-7G>A
|
rs727504972
|
0.00004
|
NM_020297.4(ABCC9):c.*5G>C
|
rs876657736
|
0.00004
|
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn)
|
rs727502920
|
0.00004
|
NM_022124.6(CDH23):c.1450-10G>A
|
rs751220612
|
0.00004
|
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln)
|
rs200263980
|
0.00004
|
NM_022124.6(CDH23):c.2500C>T (p.Arg834Cys)
|
rs372387390
|
0.00004
|
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00004
|
NM_022124.6(CDH23):c.2876C>T (p.Ala959Val)
|
rs779133533
|
0.00004
|
NM_022124.6(CDH23):c.499G>A (p.Val167Ile)
|
rs772995621
|
0.00004
|
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln)
|
rs375083901
|
0.00004
|
NM_022124.6(CDH23):c.5713-9A>G
|
rs397517343
|
0.00004
|
NM_022124.6(CDH23):c.5807G>A (p.Arg1936His)
|
rs558551826
|
0.00004
|
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr)
|
rs368381520
|
0.00004
|
NM_022124.6(CDH23):c.623C>T (p.Thr208Ile)
|
rs749123528
|
0.00004
|
NM_022124.6(CDH23):c.6655G>A (p.Asp2219Asn)
|
rs555684781
|
0.00004
|
NM_022124.6(CDH23):c.7615G>C (p.Gly2539Arg)
|
rs373649718
|
0.00004
|
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
|
rs727502936
|
0.00004
|
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)
|
rs201094625
|
0.00004
|
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg)
|
rs397517384
|
0.00004
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)
|
rs397517394
|
0.00004
|
NM_024422.6(DSC2):c.776-12T>G
|
rs397517403
|
0.00004
|
NM_024915.4(GRHL2):c.83C>G (p.Ala28Gly)
|
rs561693958
|
0.00004
|
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)
|
rs117945277
|
0.00004
|
NM_030662.4(MAP2K2):c.289A>T (p.Ile97Phe)
|
rs373579939
|
0.00004
|
NM_030662.4(MAP2K2):c.93-6C>T
|
rs727504836
|
0.00004
|
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)
|
rs151133017
|
0.00004
|
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe)
|
rs533184563
|
0.00004
|
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)
|
rs376376418
|
0.00004
|
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)
|
rs766007827
|
0.00004
|
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)
|
rs200974394
|
0.00004
|
NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr)
|
rs201999622
|
0.00004
|
NM_032119.4(ADGRV1):c.854G>A (p.Arg285His)
|
rs397517439
|
0.00004
|
NM_032119.4(ADGRV1):c.8591C>T (p.Thr2864Met)
|
rs397517440
|
0.00004
|
NM_032495.6(HOPX):c.124G>A (p.Val42Ile)
|
rs483353075
|
0.00004
|
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu)
|
rs143438666
|
0.00004
|
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu)
|
rs147727092
|
0.00004
|
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met)
|
rs727504591
|
0.00004
|
NM_057176.3(BSND):c.482C>T (p.Ala161Val)
|
rs369618892
|
0.00004
|
NM_080680.3(COL11A2):c.1136G>A (p.Arg379Gln)
|
rs150429851
|
0.00004
|
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
0.00004
|
NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu)
|
rs763995767
|
0.00004
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
NM_133379.5(TTN):c.10645C>T (p.Arg3549Cys)
|
rs201047740
|
0.00004
|
NM_133379.5(TTN):c.13951A>G (p.Ser4651Gly)
|
rs190193836
|
0.00004
|
NM_133379.5(TTN):c.14881C>T (p.Arg4961Cys)
|
rs565101305
|
0.00004
|
NM_133379.5(TTN):c.15182G>A (p.Arg5061Lys)
|
rs727503664
|
0.00004
|
NM_133379.5(TTN):c.15755A>G (p.Glu5252Gly)
|
rs727503663
|
0.00004
|
NM_133379.5(TTN):c.15782T>C (p.Ile5261Thr)
|
rs375197115
|
0.00004
|
NM_133379.5(TTN):c.15926A>G (p.Glu5309Gly)
|
rs150017914
|
0.00004
|
NM_133379.5(TTN):c.16471A>C (p.Met5491Leu)
|
rs191751905
|
0.00004
|
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter)
|
rs148430495
|
0.00004
|
NM_138691.3(TMC1):c.1567-14T>G
|
rs727503485
|
0.00004
|
NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg)
|
rs150737570
|
0.00004
|
NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile)
|
rs727503424
|
0.00004
|
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)
|
rs750076188
|
0.00004
|
NM_144573.4(NEXN):c.836G>A (p.Arg279His)
|
rs750349053
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_144672.4(OTOA):c.1807G>T (p.Val603Phe)
|
rs775686301
|
0.00004
|
NM_144991.3(TSPEAR):c.1079A>G (p.Lys360Arg)
|
rs375829414
|
0.00004
|
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys)
|
rs782088056
|
0.00004
|
NM_152594.3(SPRED1):c.424-5A>G
|
rs752656697
|
0.00004
|
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile)
|
rs397517875
|
0.00004
|
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr)
|
rs372227474
|
0.00004
|
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys)
|
rs876658111
|
0.00004
|
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu)
|
rs371994634
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_174878.3(CLRN1):c.254-2054G>C
|
rs185457278
|
0.00004
|
NM_178335.3(CCDC50):c.353A>G (p.Glu118Gly)
|
rs753554570
|
0.00004
|
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys)
|
rs201198797
|
0.00004
|
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp)
|
rs368155547
|
0.00004
|
NM_199069.2(NDUFAF3):c.180_181insT (p.Asp61Ter)
|
rs752864722
|
0.00004
|
NM_201384.3(PLEC):c.6667C>T (p.Arg2223Cys)
|
rs200620255
|
0.00004
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00004
|
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys)
|
rs570446209
|
0.00004
|
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln)
|
rs192524347
|
0.00004
|
NM_206933.4(USH2A):c.2777G>A (p.Arg926His)
|
rs146916397
|
0.00004
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00004
|
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu)
|
rs143107117
|
0.00004
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
0.00004
|
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr)
|
rs758614136
|
0.00004
|
NM_213569.2(NEBL):c.125A>G (p.Asn42Ser)
|
rs727503340
|
0.00004
|
NM_000038.6(APC):c.1904G>C (p.Gly635Ala)
|
rs730881239
|
0.00003
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
rs80358833
|
0.00003
|
NM_000138.5(FBN1):c.164+5A>G
|
rs397515760
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
NM_000169.3(GLA):c.639+6A>C
|
rs200096940
|
0.00003
|
NM_000179.3(MSH6):c.3604A>T (p.Met1202Leu)
|
rs369778514
|
0.00003
|
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)
|
rs199472787
|
0.00003
|
NM_000218.3(KCNQ1):c.181C>A (p.Pro61Thr)
|
rs1273257287
|
0.00003
|
NM_000218.3(KCNQ1):c.484G>A (p.Val162Met)
|
rs199472692
|
0.00003
|
NM_000219.6(KCNE1):c.-13C>T
|
rs745925445
|
0.00003
|
NM_000219.6(KCNE1):c.107G>A (p.Arg36His)
|
rs199473351
|
0.00003
|
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser)
|
rs199473644
|
0.00003
|
NM_000219.6(KCNE1):c.172A>C (p.Thr58Pro)
|
rs147187721
|
0.00003
|
NM_000219.6(KCNE1):c.176T>C (p.Leu59Pro)
|
rs141813529
|
0.00003
|
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)
|
rs199473360
|
0.00003
|
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln)
|
rs150454912
|
0.00003
|
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val)
|
rs780656919
|
0.00003
|
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu)
|
rs63750226
|
0.00003
|
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)
|
rs63749900
|
0.00003
|
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser)
|
rs397515881
|
0.00003
|
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp)
|
rs727504249
|
0.00003
|
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys)
|
rs373638535
|
0.00003
|
NM_000256.3(MYBPC3):c.1670G>A (p.Gly557Asp)
|
rs730880549
|
0.00003
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)
|
rs375471260
|
0.00003
|
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met)
|
rs727503189
|
0.00003
|
NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln)
|
rs397515986
|
0.00003
|
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)
|
rs727504346
|
0.00003
|
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu)
|
rs730880610
|
0.00003
|
NM_000256.3(MYBPC3):c.373G>T (p.Ala125Ser)
|
rs370958401
|
0.00003
|
NM_000256.3(MYBPC3):c.405A>G (p.Lys135=)
|
rs727504318
|
0.00003
|
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)
|
rs397516069
|
0.00003
|
NM_000256.3(MYBPC3):c.758A>G (p.Asn253Ser)
|
rs727503214
|
0.00003
|
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys)
|
rs397516086
|
0.00003
|
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln)
|
rs397516117
|
0.00003
|
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys)
|
rs558673680
|
0.00003
|
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)
|
rs45511396
|
0.00003
|
NM_000257.4(MYH7):c.5088G>C (p.Glu1696Asp)
|
rs373219734
|
0.00003
|
NM_000258.3(MYL3):c.91C>T (p.Arg31Cys)
|
rs377026344
|
0.00003
|
NM_000258.3(MYL3):c.92G>A (p.Arg31His)
|
rs199639940
|
0.00003
|
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly)
|
rs111033339
|
0.00003
|
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)
|
rs782726270
|
0.00003
|
NM_000260.4(MYO7A):c.2836A>C (p.Met946Leu)
|
rs1357072694
|
0.00003
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)
|
rs727504710
|
0.00003
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly)
|
rs377391891
|
0.00003
|
NM_000260.4(MYO7A):c.440G>A (p.Arg147His)
|
rs111033512
|
0.00003
|
NM_000260.4(MYO7A):c.4910A>G (p.His1637Arg)
|
rs372054499
|
0.00003
|
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val)
|
rs574917232
|
0.00003
|
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)
|
rs572959359
|
0.00003
|
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln)
|
rs762258869
|
0.00003
|
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr)
|
rs900545157
|
0.00003
|
NM_000307.5(POU3F4):c.353C>T (p.Pro118Leu)
|
rs760582733
|
0.00003
|
NM_000307.5(POU3F4):c.483C>A (p.Ser161Arg)
|
rs727503376
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu)
|
rs778522112
|
0.00003
|
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=)
|
rs755980331
|
0.00003
|
NM_000335.5(SCN5A):c.393-1C>T
|
rs759235726
|
0.00003
|
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)
|
rs200034939
|
0.00003
|
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu)
|
rs199473250
|
0.00003
|
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr)
|
rs373410109
|
0.00003
|
NM_000335.5(SCN5A):c.5371G>A (p.Asp1791Asn)
|
rs727504495
|
0.00003
|
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln)
|
rs727503423
|
0.00003
|
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys)
|
rs768979513
|
0.00003
|
NM_000337.6(SGCD):c.699+72A>C
|
rs376317697
|
0.00003
|
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu)
|
rs375159661
|
0.00003
|
NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr)
|
rs531273434
|
0.00003
|
NM_000395.3(CSF2RB):c.673C>T (p.Arg225Cys)
|
rs145546133
|
0.00003
|
NM_000414.4(HSD17B4):c.1452A>G (p.Ile484Met)
|
rs376158204
|
0.00003
|
NM_000414.4(HSD17B4):c.1663A>G (p.Arg555Gly)
|
rs561555159
|
0.00003
|
NM_000441.2(SLC26A4):c.1545-7del
|
rs727503427
|
0.00003
|
NM_000441.2(SLC26A4):c.1996T>A (p.Ser666Thr)
|
rs397516425
|
0.00003
|
NM_000441.2(SLC26A4):c.871C>T (p.Arg291Trp)
|
rs775610413
|
0.00003
|
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)
|
rs587782364
|
0.00003
|
NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp)
|
rs376931849
|
0.00003
|
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn)
|
rs371408686
|
0.00003
|
NM_000503.6(EYA1):c.692A>G (p.Asn231Ser)
|
rs1563422226
|
0.00003
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
NM_000546.6(TP53):c.188C>G (p.Ala63Gly)
|
rs372201428
|
0.00003
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)
|
rs137854406
|
0.00003
|
NM_000601.6(HGF):c.659G>A (p.Arg220Gln)
|
rs372600489
|
0.00003
|
NM_000720.4(CACNA1D):c.1502C>T (p.Ala501Val)
|
rs748425556
|
0.00003
|
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val)
|
rs397517002
|
0.00003
|
NM_001018005.2(TPM1):c.240+4430G>A
|
rs397516490
|
0.00003
|
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)
|
rs397516395
|
0.00003
|
NM_001032283.3(TMPO):c.1174C>T (p.Pro392Ser)
|
rs727504622
|
0.00003
|
NM_001032283.3(TMPO):c.565+1917A>G
|
rs727505217
|
0.00003
|
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)
|
rs397516514
|
0.00003
|
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr)
|
rs761505396
|
0.00003
|
NM_001035.3(RYR2):c.719A>G (p.His240Arg)
|
rs369512347
|
0.00003
|
NM_001038603.3(MARVELD2):c.1461T>G (p.Asp487Glu)
|
rs727503161
|
0.00003
|
NM_001039141.3(TRIOBP):c.6170G>A (p.Arg2057His)
|
rs377068258
|
0.00003
|
NM_001039141.3(TRIOBP):c.6830G>A (p.Arg2277Gln)
|
rs775565659
|
0.00003
|
NM_001039213.4(CEACAM16):c.970G>A (p.Val324Met)
|
rs747285667
|
0.00003
|
NM_001039876.3(SYNE4):c.1032-2A>T
|
rs202107534
|
0.00003
|
NM_001039876.3(SYNE4):c.940C>T (p.His314Tyr)
|
rs886101498
|
0.00003
|
NM_001042545.2(LTBP4):c.4165C>T (p.Pro1389Ser)
|
rs766093064
|
0.00003
|
NM_001042702.5(PJVK):c.212-12C>A
|
rs199967536
|
0.00003
|
NM_001042702.5(PJVK):c.437G>A (p.Arg146His)
|
rs369805509
|
0.00003
|
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)
|
rs587778540
|
0.00003
|
NM_001089.3(ABCA3):c.2140C>T (p.Arg714Cys)
|
rs867072001
|
0.00003
|
NM_001103.4(ACTN2):c.-3G>T
|
rs201920417
|
0.00003
|
NM_001103.4(ACTN2):c.2003C>G (p.Thr668Arg)
|
rs397516572
|
0.00003
|
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys)
|
rs145248415
|
0.00003
|
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr)
|
rs777744290
|
0.00003
|
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln)
|
rs727502888
|
0.00003
|
NM_001105206.3(LAMA4):c.1358-12A>G
|
rs397516716
|
0.00003
|
NM_001114753.3(ENG):c.374T>C (p.Val125Ala)
|
rs750115837
|
0.00003
|
NM_001127453.2(GSDME):c.553G>A (p.Gly185Ser)
|
rs376265514
|
0.00003
|
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys)
|
rs370001536
|
0.00003
|
NM_001128840.3(CACNA1D):c.1750G>A (p.Val584Ile)
|
rs773365038
|
0.00003
|
NM_001128840.3(CACNA1D):c.6215G>A (p.Gly2072Glu)
|
rs770605004
|
0.00003
|
NM_001145809.2(MYH14):c.1655C>T (p.Pro552Leu)
|
rs727505282
|
0.00003
|
NM_001145809.2(MYH14):c.3259C>T (p.Arg1087Trp)
|
rs368372273
|
0.00003
|
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln)
|
rs377014092
|
0.00003
|
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His)
|
rs727504915
|
0.00003
|
NM_001145809.2(MYH14):c.4370G>A (p.Arg1457Gln)
|
rs727503224
|
0.00003
|
NM_001145809.2(MYH14):c.4393C>T (p.Arg1465Cys)
|
rs727505272
|
0.00003
|
NM_001145809.2(MYH14):c.4433G>A (p.Arg1478Gln)
|
rs757168957
|
0.00003
|
NM_001145809.2(MYH14):c.4441C>T (p.Arg1481Cys)
|
rs727503227
|
0.00003
|
NM_001145809.2(MYH14):c.5446C>T (p.Arg1816Cys)
|
rs376798395
|
0.00003
|
NM_001195263.2(PDZD7):c.2011C>A (p.Arg671Ser)
|
rs925832623
|
0.00003
|
NM_001195263.2(PDZD7):c.2639T>C (p.Ile880Thr)
|
rs202192219
|
0.00003
|
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu)
|
rs773916549
|
0.00003
|
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His)
|
rs201174513
|
0.00003
|
NM_001199799.2(ILDR1):c.1360G>A (p.Glu454Lys)
|
rs727503097
|
0.00003
|
NM_001199799.2(ILDR1):c.1537C>T (p.Arg513Cys)
|
rs767668911
|
0.00003
|
NM_001199799.2(ILDR1):c.451G>A (p.Gly151Arg)
|
rs727503098
|
0.00003
|
NM_001199799.2(ILDR1):c.80C>T (p.Thr27Met)
|
rs145984650
|
0.00003
|
NM_001206927.2(DNAH8):c.8053G>C (p.Ala2685Pro)
|
rs373111234
|
0.00003
|
NM_001232.4(CASQ2):c.234+3A>G
|
rs727502909
|
0.00003
|
NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser)
|
rs727504510
|
0.00003
|
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile)
|
rs727503678
|
0.00003
|
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp)
|
rs373754986
|
0.00003
|
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His)
|
rs550047610
|
0.00003
|
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His)
|
rs371528685
|
0.00003
|
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)
|
rs397517788
|
0.00003
|
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp)
|
rs397517796
|
0.00003
|
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)
|
rs727504540
|
0.00003
|
NM_001267550.2(TTN):c.10682A>G (p.Gln3561Arg)
|
rs727503676
|
0.00003
|
NM_001267550.2(TTN):c.107009G>C (p.Arg35670Thr)
|
rs534961012
|
0.00003
|
NM_001267550.2(TTN):c.107285G>A (p.Arg35762Gln)
|
rs397517800
|
0.00003
|
NM_001267550.2(TTN):c.11756C>A (p.Thr3919Asn)
|
rs727503661
|
0.00003
|
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val)
|
rs727503659
|
0.00003
|
NM_001267550.2(TTN):c.1398+5G>A
|
rs542965530
|
0.00003
|
NM_001267550.2(TTN):c.15778C>A (p.Pro5260Thr)
|
rs727505108
|
0.00003
|
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly)
|
rs760722200
|
0.00003
|
NM_001267550.2(TTN):c.1816A>G (p.Arg606Gly)
|
rs397517498
|
0.00003
|
NM_001267550.2(TTN):c.19054A>G (p.Arg6352Gly)
|
rs569003242
|
0.00003
|
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)
|
rs397517493
|
0.00003
|
NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly)
|
rs372826489
|
0.00003
|
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser)
|
rs727505333
|
0.00003
|
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)
|
rs397517502
|
0.00003
|
NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys)
|
rs149155733
|
0.00003
|
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)
|
rs549604128
|
0.00003
|
NM_001267550.2(TTN):c.25046C>G (p.Ala8349Gly)
|
rs397517513
|
0.00003
|
NM_001267550.2(TTN):c.26020G>A (p.Val8674Ile)
|
rs375710902
|
0.00003
|
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)
|
rs370962244
|
0.00003
|
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)
|
rs200325324
|
0.00003
|
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg)
|
rs372820178
|
0.00003
|
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln)
|
rs376287951
|
0.00003
|
NM_001267550.2(TTN):c.32555-12G>T
|
rs397517540
|
0.00003
|
NM_001267550.2(TTN):c.32888-3C>A
|
rs397517544
|
0.00003
|
NM_001267550.2(TTN):c.34894C>A (p.Leu11632Ile)
|
rs727503633
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys)
|
rs397517577
|
0.00003
|
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)
|
rs762128685
|
0.00003
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala)
|
rs745999025
|
0.00003
|
NM_001267550.2(TTN):c.49366C>T (p.Arg16456Cys)
|
rs727504986
|
0.00003
|
NM_001267550.2(TTN):c.50479C>T (p.Arg16827Trp)
|
rs727503620
|
0.00003
|
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln)
|
rs72677250
|
0.00003
|
NM_001267550.2(TTN):c.5192A>G (p.Asp1731Gly)
|
rs876658072
|
0.00003
|
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser)
|
rs762214300
|
0.00003
|
NM_001267550.2(TTN):c.5423A>C (p.Glu1808Ala)
|
rs746238242
|
0.00003
|
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn)
|
rs367799017
|
0.00003
|
NM_001267550.2(TTN):c.55973G>A (p.Arg18658Gln)
|
rs370888932
|
0.00003
|
NM_001267550.2(TTN):c.5644C>T (p.Arg1882Cys)
|
rs397517658
|
0.00003
|
NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu)
|
rs876658069
|
0.00003
|
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)
|
rs374203813
|
0.00003
|
NM_001267550.2(TTN):c.59114G>A (p.Arg19705His)
|
rs727503590
|
0.00003
|
NM_001267550.2(TTN):c.61631A>G (p.His20544Arg)
|
rs876658073
|
0.00003
|
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His)
|
rs727503587
|
0.00003
|
NM_001267550.2(TTN):c.62761C>A (p.Pro20921Thr)
|
rs935268567
|
0.00003
|
NM_001267550.2(TTN):c.64193T>G (p.Ile21398Ser)
|
rs727504754
|
0.00003
|
NM_001267550.2(TTN):c.64241G>A (p.Arg21414His)
|
rs727504690
|
0.00003
|
NM_001267550.2(TTN):c.65371G>A (p.Gly21791Ser)
|
rs370878527
|
0.00003
|
NM_001267550.2(TTN):c.68272G>A (p.Asp22758Asn)
|
rs397517675
|
0.00003
|
NM_001267550.2(TTN):c.68525T>C (p.Ile22842Thr)
|
rs368301580
|
0.00003
|
NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg)
|
rs773592810
|
0.00003
|
NM_001267550.2(TTN):c.70477A>T (p.Thr23493Ser)
|
rs375675901
|
0.00003
|
NM_001267550.2(TTN):c.70967C>T (p.Pro23656Leu)
|
rs368938701
|
0.00003
|
NM_001267550.2(TTN):c.71981C>T (p.Ala23994Val)
|
rs772886864
|
0.00003
|
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val)
|
rs876658080
|
0.00003
|
NM_001267550.2(TTN):c.75274G>A (p.Glu25092Lys)
|
rs397517700
|
0.00003
|
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys)
|
rs397517701
|
0.00003
|
NM_001267550.2(TTN):c.76199G>C (p.Cys25400Ser)
|
rs397517704
|
0.00003
|
NM_001267550.2(TTN):c.77035A>C (p.Asn25679His)
|
rs770512378
|
0.00003
|
NM_001267550.2(TTN):c.78062C>G (p.Pro26021Arg)
|
rs727504982
|
0.00003
|
NM_001267550.2(TTN):c.81178G>T (p.Asp27060Tyr)
|
rs372875889
|
0.00003
|
NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu)
|
rs761633407
|
0.00003
|
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)
|
rs374022393
|
0.00003
|
NM_001267550.2(TTN):c.89893A>G (p.Ile29965Val)
|
rs370135800
|
0.00003
|
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)
|
rs376942948
|
0.00003
|
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)
|
rs727504923
|
0.00003
|
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr)
|
rs727505175
|
0.00003
|
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met)
|
rs727503543
|
0.00003
|
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys)
|
rs727503542
|
0.00003
|
NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys)
|
rs371249764
|
0.00003
|
NM_001267550.2(TTN):c.9701A>G (p.Asn3234Ser)
|
rs397517791
|
0.00003
|
NM_001267550.2(TTN):c.97111A>G (p.Ile32371Val)
|
rs397517766
|
0.00003
|
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu)
|
rs397517792
|
0.00003
|
NM_001267550.2(TTN):c.98075C>G (p.Thr32692Arg)
|
rs727505311
|
0.00003
|
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met)
|
rs191708454
|
0.00003
|
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu)
|
rs201379132
|
0.00003
|
NM_001267550.2(TTN):c.99290-6G>T
|
rs727504987
|
0.00003
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
NM_001277115.2(DNAH11):c.68C>T (p.Ser23Leu)
|
rs745842220
|
0.00003
|
NM_001289808.2(CRYAB):c.368G>A (p.Arg123Gln)
|
rs782206421
|
0.00003
|
NM_001292063.2(OTOG):c.2276C>T (p.Ala759Val)
|
rs876657937
|
0.00003
|
NM_001292063.2(OTOG):c.4129C>T (p.Arg1377Cys)
|
rs764931529
|
0.00003
|
NM_001292063.2(OTOG):c.6037C>T (p.Arg2013Cys)
|
rs757086717
|
0.00003
|
NM_001292063.2(OTOG):c.764C>T (p.Ser255Leu)
|
rs939158613
|
0.00003
|
NM_001330.5(CTF1):c.145-10G>A
|
rs397516645
|
0.00003
|
NM_001330.5(CTF1):c.469G>A (p.Ala157Thr)
|
rs876657768
|
0.00003
|
NM_001349253.2(SCN11A):c.1095T>G (p.Tyr365Ter)
|
rs1440766335
|
0.00003
|
NM_001354604.2(MITF):c.1179+4C>T
|
rs749869303
|
0.00003
|
NM_001354604.2(MITF):c.881-9C>G
|
rs766938558
|
0.00003
|
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter)
|
rs781333877
|
0.00003
|
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly)
|
rs560736902
|
0.00003
|
NM_001378609.3(OTOGL):c.4746T>A (p.Asn1582Lys)
|
rs910949216
|
0.00003
|
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His)
|
rs752185665
|
0.00003
|
NM_001384140.1(PCDH15):c.128T>C (p.Ile43Thr)
|
rs766772151
|
0.00003
|
NM_001384140.1(PCDH15):c.1985A>G (p.Asn662Ser)
|
rs373731707
|
0.00003
|
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp)
|
rs150387187
|
0.00003
|
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu)
|
rs534173969
|
0.00003
|
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser)
|
rs727503368
|
0.00003
|
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys)
|
rs565693539
|
0.00003
|
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg)
|
rs727503367
|
0.00003
|
NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys)
|
rs535637788
|
0.00003
|
NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val)
|
rs876657858
|
0.00003
|
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn)
|
rs747038125
|
0.00003
|
NM_001384474.1(LOXHD1):c.3218C>G (p.Thr1073Arg)
|
rs1353205519
|
0.00003
|
NM_001384474.1(LOXHD1):c.5095G>A (p.Asp1699Asn)
|
rs727504848
|
0.00003
|
NM_001384474.1(LOXHD1):c.5170A>T (p.Met1724Leu)
|
rs200930427
|
0.00003
|
NM_001384474.1(LOXHD1):c.5623G>A (p.Val1875Ile)
|
rs367623969
|
0.00003
|
NM_001384474.1(LOXHD1):c.6068A>G (p.Glu2023Gly)
|
rs572863376
|
0.00003
|
NM_001393500.2(TOMT):c.167A>G (p.His56Arg)
|
rs957857044
|
0.00003
|
NM_001393500.2(TOMT):c.681T>G (p.Cys227Trp)
|
rs886048633
|
0.00003
|
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly)
|
rs777642924
|
0.00003
|
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala)
|
rs727502991
|
0.00003
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr)
|
rs727502986
|
0.00003
|
NM_002230.4(JUP):c.1379G>A (p.Arg460His)
|
rs397517296
|
0.00003
|
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr)
|
rs727504778
|
0.00003
|
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)
|
rs138374063
|
0.00003
|
NM_002458.3(MUC5B):c.16960G>C (p.Glu5654Gln)
|
rs375272740
|
0.00003
|
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp)
|
rs753444140
|
0.00003
|
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg)
|
rs772216708
|
0.00003
|
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)
|
rs727503236
|
0.00003
|
NM_002471.4(MYH6):c.3860-15T>G
|
rs200883903
|
0.00003
|
NM_002471.4(MYH6):c.5101C>T (p.Arg1701Trp)
|
rs765737102
|
0.00003
|
NM_002473.6(MYH9):c.193G>A (p.Val65Met)
|
rs377348805
|
0.00003
|
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp)
|
rs727503281
|
0.00003
|
NM_002691.4(POLD1):c.1157G>A (p.Arg386His)
|
rs764023083
|
0.00003
|
NM_002691.4(POLD1):c.1552C>A (p.Leu518Met)
|
rs149043082
|
0.00003
|
NM_002691.4(POLD1):c.1955G>A (p.Arg652Gln)
|
rs778037523
|
0.00003
|
NM_002691.4(POLD1):c.2954G>C (p.Arg985Pro)
|
rs749159160
|
0.00003
|
NM_002691.4(POLD1):c.758+5G>A
|
rs760003191
|
0.00003
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
NM_002755.4(MAP2K1):c.875C>T (p.Thr292Ile)
|
rs397516794
|
0.00003
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met)
|
rs397516851
|
0.00003
|
NM_003476.5(CSRP3):c.191G>A (p.Arg64His)
|
rs375014380
|
0.00003
|
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val)
|
rs150765181
|
0.00003
|
NM_003673.4(TCAP):c.269C>T (p.Pro90Leu)
|
rs727504427
|
0.00003
|
NM_003803.4(MYOM1):c.158C>T (p.Ala53Val)
|
rs747035411
|
0.00003
|
NM_004006.3(DMD):c.31+83105G>A
|
rs772161214
|
0.00003
|
NM_004086.3(COCH):c.35G>A (p.Gly12Asp)
|
rs1213767677
|
0.00003
|
NM_004415.4(DSP):c.1501G>A (p.Val501Ile)
|
rs368778031
|
0.00003
|
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu)
|
rs727504657
|
0.00003
|
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys)
|
rs778636665
|
0.00003
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val)
|
rs145796901
|
0.00003
|
NM_004415.4(DSP):c.485G>T (p.Arg162Leu)
|
rs397516944
|
0.00003
|
NM_004415.4(DSP):c.5899G>A (p.Val1967Met)
|
rs397516949
|
0.00003
|
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly)
|
rs760673242
|
0.00003
|
NM_004415.4(DSP):c.607G>A (p.Asp203Asn)
|
rs374100807
|
0.00003
|
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)
|
rs768837509
|
0.00003
|
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe)
|
rs397516958
|
0.00003
|
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser)
|
rs397516959
|
0.00003
|
NM_004415.4(DSP):c.860A>G (p.Asn287Ser)
|
rs138872423
|
0.00003
|
NM_004447.6(EPS8):c.793C>T (p.Arg265Cys)
|
rs749500838
|
0.00003
|
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)
|
rs387906696
|
0.00003
|
NM_004700.4(KCNQ4):c.1162C>T (p.Arg388Trp)
|
rs371079509
|
0.00003
|
NM_004700.4(KCNQ4):c.1201C>T (p.Arg401Trp)
|
rs754165873
|
0.00003
|
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys)
|
rs367890569
|
0.00003
|
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=)
|
rs766877660
|
0.00003
|
NM_004817.4(TJP2):c.2987C>T (p.Pro996Leu)
|
rs727504634
|
0.00003
|
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln)
|
rs201144827
|
0.00003
|
NM_004999.4(MYO6):c.2552A>C (p.Asp851Ala)
|
rs142423106
|
0.00003
|
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro)
|
rs727505048
|
0.00003
|
NM_004999.4(MYO6):c.3236A>G (p.Lys1079Arg)
|
rs753378509
|
0.00003
|
NM_004999.4(MYO6):c.3386G>A (p.Arg1129His)
|
rs779885818
|
0.00003
|
NM_004999.4(MYO6):c.3679T>C (p.Cys1227Arg)
|
rs370061746
|
0.00003
|
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)
|
rs373989524
|
0.00003
|
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu)
|
rs143034856
|
0.00003
|
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile)
|
rs762016318
|
0.00003
|
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)
|
rs151229168
|
0.00003
|
NM_005379.4(MYO1A):c.2708A>G (p.Asn903Ser)
|
rs146373415
|
0.00003
|
NM_005422.4(TECTA):c.1203+3G>A
|
rs774205473
|
0.00003
|
NM_005422.4(TECTA):c.1522A>C (p.Thr508Pro)
|
rs772553666
|
0.00003
|
NM_005422.4(TECTA):c.2537G>A (p.Gly846Glu)
|
rs876658014
|
0.00003
|
NM_005422.4(TECTA):c.4097C>T (p.Thr1366Met)
|
rs201860044
|
0.00003
|
NM_005422.4(TECTA):c.4441A>G (p.Ser1481Gly)
|
rs201946991
|
0.00003
|
NM_005422.4(TECTA):c.4802A>G (p.Asn1601Ser)
|
rs758272613
|
0.00003
|
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln)
|
rs555093382
|
0.00003
|
NM_005422.4(TECTA):c.878A>G (p.Tyr293Cys)
|
rs185351501
|
0.00003
|
NM_005548.3(KARS1):c.1350G>C (p.Glu450Asp)
|
rs200574045
|
0.00003
|
NM_005633.4(SOS1):c.-15C>T
|
rs727503439
|
0.00003
|
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser)
|
rs397517168
|
0.00003
|
NM_006005.3(WFS1):c.1184T>A (p.Val395Asp)
|
rs769744865
|
0.00003
|
NM_006005.3(WFS1):c.2531C>T (p.Ala844Val)
|
rs200192011
|
0.00003
|
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe)
|
rs771391168
|
0.00003
|
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)
|
rs142428158
|
0.00003
|
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu)
|
rs727504730
|
0.00003
|
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)
|
rs144888979
|
0.00003
|
NM_006073.4(TRDN):c.46G>C (p.Val16Leu)
|
rs974343553
|
0.00003
|
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser)
|
rs371348453
|
0.00003
|
NM_006231.4(POLE):c.6392G>A (p.Arg2131His)
|
rs141954509
|
0.00003
|
NM_006393.3(NEBL):c.113G>T (p.Ser38Ile)
|
rs375265257
|
0.00003
|
NM_006393.3(NEBL):c.903+1G>T
|
rs775057540
|
0.00003
|
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)
|
rs747377284
|
0.00003
|
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser)
|
rs397517214
|
0.00003
|
NM_007078.3(LDB3):c.897-10G>A
|
rs77304928
|
0.00003
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
NM_012208.4(HARS2):c.-4C>G
|
rs876657830
|
0.00003
|
NM_012208.4(HARS2):c.145C>T (p.His49Tyr)
|
rs370203603
|
0.00003
|
NM_012208.4(HARS2):c.643C>T (p.Arg215Trp)
|
rs758323052
|
0.00003
|
NM_013296.5(GPSM2):c.-2C>T
|
rs727504726
|
0.00003
|
NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu)
|
rs727503087
|
0.00003
|
NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr)
|
rs397517232
|
0.00003
|
NM_014000.3(VCL):c.1844C>T (p.Ala615Val)
|
rs148669762
|
0.00003
|
NM_014000.3(VCL):c.2875A>C (p.Asn959His)
|
rs758969419
|
0.00003
|
NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr)
|
rs939028046
|
0.00003
|
NM_015404.4(WHRN):c.2029A>G (p.Ile677Val)
|
rs758287560
|
0.00003
|
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu)
|
rs760261757
|
0.00003
|
NM_015404.4(WHRN):c.44C>T (p.Thr15Ile)
|
rs727502957
|
0.00003
|
NM_015512.5(DNAH1):c.3431G>A (p.Ser1144Asn)
|
rs571987789
|
0.00003
|
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val)
|
rs397517274
|
0.00003
|
NM_016239.4(MYO15A):c.1261C>T (p.Pro421Ser)
|
rs762439635
|
0.00003
|
NM_016239.4(MYO15A):c.1585C>T (p.His529Tyr)
|
rs200836518
|
0.00003
|
NM_016239.4(MYO15A):c.3241T>G (p.Trp1081Gly)
|
rs771821256
|
0.00003
|
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu)
|
rs368430972
|
0.00003
|
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln)
|
rs780165350
|
0.00003
|
NM_016239.4(MYO15A):c.5380C>T (p.Arg1794Cys)
|
rs369109640
|
0.00003
|
NM_016239.4(MYO15A):c.8225-12G>A
|
rs541139484
|
0.00003
|
NM_016239.4(MYO15A):c.9328C>T (p.Arg3110Trp)
|
rs773489275
|
0.00003
|
NM_017433.5(MYO3A):c.2115-10A>G
|
rs200205050
|
0.00003
|
NM_017433.5(MYO3A):c.2719G>A (p.Asp907Asn)
|
rs727503325
|
0.00003
|
NM_017433.5(MYO3A):c.568T>C (p.Phe190Leu)
|
rs727504671
|
0.00003
|
NM_017433.5(MYO3A):c.823C>T (p.Arg275Cys)
|
rs755478240
|
0.00003
|
NM_017668.3(NDE1):c.948-3357C>T
|
rs376779423
|
0.00003
|
NM_017950.4(CCDC40):c.461G>A (p.Arg154Lys)
|
rs751661394
|
0.00003
|
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys)
|
rs200191497
|
0.00003
|
NM_020297.4(ABCC9):c.1012-7G>A
|
rs727502874
|
0.00003
|
NM_020297.4(ABCC9):c.1063G>T (p.Ala355Ser)
|
rs145455570
|
0.00003
|
NM_020297.4(ABCC9):c.2932C>A (p.Pro978Thr)
|
rs376874273
|
0.00003
|
NM_020297.4(ABCC9):c.4512+693G>A
|
rs876657737
|
0.00003
|
NM_020433.5(JPH2):c.1640C>T (p.Ala547Val)
|
rs772283505
|
0.00003
|
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met)
|
rs374911318
|
0.00003
|
NM_022114.4(PRDM16):c.413C>T (p.Ser138Leu)
|
rs552668116
|
0.00003
|
NM_022124.6(CDH23):c.10007C>T (p.Pro3336Leu)
|
rs727504532
|
0.00003
|
NM_022124.6(CDH23):c.130G>A (p.Glu44Lys)
|
rs1390133151
|
0.00003
|
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg)
|
rs397517311
|
0.00003
|
NM_022124.6(CDH23):c.2032G>A (p.Val678Ile)
|
rs547668692
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_022124.6(CDH23):c.259G>T (p.Val87Leu)
|
rs759917997
|
0.00003
|
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn)
|
rs199793172
|
0.00003
|
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly)
|
rs757508152
|
0.00003
|
NM_022124.6(CDH23):c.3550G>A (p.Asp1184Asn)
|
rs397517325
|
0.00003
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597
|
0.00003
|
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met)
|
rs758413650
|
0.00003
|
NM_022124.6(CDH23):c.429+4G>A
|
rs397517328
|
0.00003
|
NM_022124.6(CDH23):c.6559G>A (p.Ala2187Thr)
|
rs727504841
|
0.00003
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
NM_022124.6(CDH23):c.8257G>A (p.Ala2753Thr)
|
rs397517356
|
0.00003
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
NM_022124.6(CDH23):c.9070G>A (p.Val3024Met)
|
rs370087572
|
0.00003
|
NM_022124.6(CDH23):c.9078G>C (p.Arg3026=)
|
rs727504725
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)
|
rs74315319
|
0.00003
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr)
|
rs766413086
|
0.00003
|
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr)
|
rs373324195
|
0.00003
|
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)
|
rs147241955
|
0.00003
|
NM_024915.4(GRHL2):c.1081G>A (p.Val361Met)
|
rs770962467
|
0.00003
|
NM_024915.4(GRHL2):c.1546C>T (p.Arg516Trp)
|
rs780540983
|
0.00003
|
NM_030662.4(MAP2K2):c.1046+4G>A
|
rs1011864039
|
0.00003
|
NM_030662.4(MAP2K2):c.391G>A (p.Val131Met)
|
rs397517413
|
0.00003
|
NM_031475.3(ESPN):c.1016G>A (p.Arg339Gln)
|
rs148390614
|
0.00003
|
NM_032119.4(ADGRV1):c.12202G>A (p.Gly4068Arg)
|
rs760011091
|
0.00003
|
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu)
|
rs200957385
|
0.00003
|
NM_032119.4(ADGRV1):c.13919G>A (p.Gly4640Glu)
|
rs727504706
|
0.00003
|
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu)
|
rs200130204
|
0.00003
|
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn)
|
rs772117132
|
0.00003
|
NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu)
|
rs376863164
|
0.00003
|
NM_032119.4(ADGRV1):c.18775G>T (p.Asp6259Tyr)
|
rs397517428
|
0.00003
|
NM_032119.4(ADGRV1):c.5311C>G (p.Gln1771Glu)
|
rs727503074
|
0.00003
|
NM_032119.4(ADGRV1):c.5623G>A (p.Gly1875Arg)
|
rs727503075
|
0.00003
|
NM_032119.4(ADGRV1):c.6676G>A (p.Glu2226Lys)
|
rs397517433
|
0.00003
|
NM_032119.4(ADGRV1):c.7631A>G (p.Glu2544Gly)
|
rs111033523
|
0.00003
|
NM_032119.4(ADGRV1):c.7907A>G (p.Asp2636Gly)
|
rs770468449
|
0.00003
|
NM_032119.4(ADGRV1):c.9034A>G (p.Thr3012Ala)
|
rs764873763
|
0.00003
|
NM_032590.5(KDM2B):c.46C>T (p.Arg16Ter)
|
rs376781406
|
0.00003
|
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr)
|
rs397517464
|
0.00003
|
NM_033118.4(MYLK2):c.-13G>A
|
rs397517470
|
0.00003
|
NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr)
|
rs727503306
|
0.00003
|
NM_057176.3(BSND):c.287C>T (p.Pro96Leu)
|
rs765579274
|
0.00003
|
NM_080680.3(COL11A2):c.2495G>A (p.Gly832Glu)
|
rs750006299
|
0.00003
|
NM_080680.3(COL11A2):c.388C>T (p.Arg130Trp)
|
rs144363465
|
0.00003
|
NM_080680.3(COL11A2):c.4190T>G (p.Leu1397Arg)
|
rs571981688
|
0.00003
|
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met)
|
rs747064765
|
0.00003
|
NM_133261.3(GIPC3):c.875T>C (p.Phe292Ser)
|
rs727503065
|
0.00003
|
NM_133379.5(TTN):c.12109C>T (p.Gln4037Ter)
|
rs761974222
|
0.00003
|
NM_133379.5(TTN):c.14911A>G (p.Ile4971Val)
|
rs727504687
|
0.00003
|
NM_133379.5(TTN):c.15283T>C (p.Tyr5095His)
|
rs557767596
|
0.00003
|
NM_138691.3(TMC1):c.1018A>G (p.Met340Val)
|
rs771281791
|
0.00003
|
NM_138691.3(TMC1):c.2192A>G (p.Lys731Arg)
|
rs775993082
|
0.00003
|
NM_144573.4(NEXN):c.1053+1G>A
|
rs397517843
|
0.00003
|
NM_144573.4(NEXN):c.379C>T (p.Arg127Cys)
|
rs771113424
|
0.00003
|
NM_144672.4(OTOA):c.661G>A (p.Asp221Asn)
|
rs142693996
|
0.00003
|
NM_144991.3(TSPEAR):c.1937C>T (p.Thr646Met)
|
rs782251764
|
0.00003
|
NM_145309.6(LRRC51):c.115C>T (p.Arg39Ter)
|
rs780299621
|
0.00003
|
NM_147196.3(TMIE):c.34G>T (p.Val12Leu)
|
rs397517867
|
0.00003
|
NM_153676.4(USH1C):c.121G>A (p.Val41Met)
|
rs780439529
|
0.00003
|
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu)
|
rs747675437
|
0.00003
|
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser)
|
rs727505247
|
0.00003
|
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr)
|
rs397517878
|
0.00003
|
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala)
|
rs200779709
|
0.00003
|
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln)
|
rs397517884
|
0.00003
|
NM_153700.2(STRC):c.2527A>G (p.Lys843Glu)
|
rs1321776840
|
0.00003
|
NM_170682.4(P2RX2):c.1234G>C (p.Asp412His)
|
rs374200273
|
0.00003
|
NM_173477.5(USH1G):c.163G>A (p.Gly55Arg)
|
rs397517926
|
0.00003
|
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp)
|
rs397517930
|
0.00003
|
NM_181426.2(CCDC39):c.2238A>T (p.Gln746His)
|
rs876657752
|
0.00003
|
NM_182548.4(LHFPL5):c.475C>T (p.Arg159Cys)
|
rs755791421
|
0.00003
|
NM_194248.3(OTOF):c.1930G>A (p.Val644Ile)
|
rs727505153
|
0.00003
|
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn)
|
rs147657016
|
0.00003
|
NM_194248.3(OTOF):c.2168G>A (p.Arg723His)
|
rs754009907
|
0.00003
|
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln)
|
rs373681505
|
0.00003
|
NM_194248.3(OTOF):c.3124A>G (p.Met1042Val)
|
rs727505142
|
0.00003
|
NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp)
|
rs749458515
|
0.00003
|
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys)
|
rs745399096
|
0.00003
|
NM_194248.3(OTOF):c.4343G>A (p.Arg1448His)
|
rs373858563
|
0.00003
|
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His)
|
rs200283244
|
0.00003
|
NM_194323.3(OTOF):c.3674A>G (p.Lys1225Arg)
|
rs750669994
|
0.00003
|
NM_201596.3(CACNB2):c.1A>G (p.Met1Val)
|
rs746311834
|
0.00003
|
NM_206933.4(USH2A):c.10387+5C>G
|
rs746536041
|
0.00003
|
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala)
|
rs760024584
|
0.00003
|
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)
|
rs397517984
|
0.00003
|
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu)
|
rs765354805
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg)
|
rs370430107
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00003
|
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His)
|
rs778272177
|
0.00003
|
NM_206933.4(USH2A):c.938C>A (p.Pro313His)
|
rs397518047
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile)
|
rs397518050
|
0.00003
|
NM_000038.6(APC):c.1589T>C (p.Val530Ala)
|
rs202199891
|
0.00002
|
NM_000038.6(APC):c.1685C>T (p.Thr562Met)
|
rs587783034
|
0.00002
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu)
|
rs748745776
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000069.3(CACNA1S):c.1948+1G>A
|
rs745712829
|
0.00002
|
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala)
|
rs755344973
|
0.00002
|
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn)
|
rs201181725
|
0.00002
|
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)
|
rs397515737
|
0.00002
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp)
|
rs587781690
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile)
|
rs199472796
|
0.00002
|
NM_000219.6(KCNE1):c.220T>C (p.Ser74Pro)
|
rs199473357
|
0.00002
|
NM_000238.4(KCNH2):c.3233A>G (p.Tyr1078Cys)
|
rs199473029
|
0.00002
|
NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu)
|
rs730881769
|
0.00002
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
0.00002
|
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met)
|
rs727503208
|
0.00002
|
NM_000256.3(MYBPC3):c.1458-6G>A
|
rs375347534
|
0.00002
|
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly)
|
rs372371774
|
0.00002
|
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys)
|
rs397515939
|
0.00002
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
0.00002
|
NM_000256.3(MYBPC3):c.2439G>C (p.Lys813Asn)
|
rs727505264
|
0.00002
|
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met)
|
rs397515981
|
0.00002
|
NM_000256.3(MYBPC3):c.296A>C (p.Lys99Thr)
|
rs1555123639
|
0.00002
|
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys)
|
rs397515999
|
0.00002
|
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser)
|
rs730880573
|
0.00002
|
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)
|
rs397516063
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000256.3(MYBPC3):c.917G>A (p.Arg306Gln)
|
rs373204728
|
0.00002
|
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe)
|
rs397516105
|
0.00002
|
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val)
|
rs369935820
|
0.00002
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln)
|
rs727504342
|
0.00002
|
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)
|
rs367546859
|
0.00002
|
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)
|
rs201012865
|
0.00002
|
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)
|
rs397516182
|
0.00002
|
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His)
|
rs397516194
|
0.00002
|
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln)
|
rs797045097
|
0.00002
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)
|
rs373231077
|
0.00002
|
NM_000257.4(MYH7):c.5020G>A (p.Val1674Met)
|
rs397516235
|
0.00002
|
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln)
|
rs146778113
|
0.00002
|
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)
|
rs397516246
|
0.00002
|
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)
|
rs372381770
|
0.00002
|
NM_000257.4(MYH7):c.5660A>G (p.Glu1887Gly)
|
rs375404554
|
0.00002
|
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)
|
rs187073962
|
0.00002
|
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu)
|
rs727503277
|
0.00002
|
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
|
rs397516261
|
0.00002
|
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)
|
rs565312070
|
0.00002
|
NM_000258.3(MYL3):c.461G>A (p.Arg154His)
|
rs104893749
|
0.00002
|
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)
|
rs193922391
|
0.00002
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)
|
rs369997614
|
0.00002
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln)
|
rs1052032
|
0.00002
|
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val)
|
rs782465732
|
0.00002
|
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met)
|
rs766245260
|
0.00002
|
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His)
|
rs397516311
|
0.00002
|
NM_000260.4(MYO7A):c.5116G>A (p.Glu1706Lys)
|
rs751860887
|
0.00002
|
NM_000260.4(MYO7A):c.5857-3C>A
|
rs727505114
|
0.00002
|
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile)
|
rs199473159
|
0.00002
|
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val)
|
rs202114798
|
0.00002
|
NM_000335.5(SCN5A):c.4745G>A (p.Arg1582His)
|
rs199473621
|
0.00002
|
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His)
|
rs727504822
|
0.00002
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
NM_000363.5(TNNI3):c.168T>G (p.Ile56Met)
|
rs727503509
|
0.00002
|
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile)
|
rs747214551
|
0.00002
|
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg)
|
rs778265488
|
0.00002
|
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser)
|
rs727504425
|
0.00002
|
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter)
|
rs201728041
|
0.00002
|
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)
|
rs759360026
|
0.00002
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val)
|
rs372875358
|
0.00002
|
NM_000492.4(CFTR):c.964G>A (p.Val322Met)
|
rs1800085
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)
|
rs778531080
|
0.00002
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)
|
rs754306821
|
0.00002
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
0.00002
|
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)
|
rs137854123
|
0.00002
|
NM_000551.4(VHL):c.439A>G (p.Ile147Val)
|
rs1057517560
|
0.00002
|
NM_000601.6(HGF):c.1942G>A (p.Gly648Arg)
|
rs150109563
|
0.00002
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu)
|
rs866789949
|
0.00002
|
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser)
|
rs143323961
|
0.00002
|
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met)
|
rs146118033
|
0.00002
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
NM_001010892.3(RSPH4A):c.1121G>A (p.Arg374His)
|
rs141217974
|
0.00002
|
NM_001018005.2(TPM1):c.841A>G (p.Met281Val)
|
rs397516394
|
0.00002
|
NM_001032283.3(TMPO):c.70A>C (p.Asn24His)
|
rs727505279
|
0.00002
|
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile)
|
rs397516497
|
0.00002
|
NM_001035.3(RYR2):c.10557G>T (p.Leu3519Phe)
|
rs558910032
|
0.00002
|
NM_001035.3(RYR2):c.1166G>A (p.Arg389His)
|
rs200685968
|
0.00002
|
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)
|
rs397516527
|
0.00002
|
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser)
|
rs727503400
|
0.00002
|
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys)
|
rs397516546
|
0.00002
|
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)
|
rs876657994
|
0.00002
|
NM_001038603.3(MARVELD2):c.*1C>T
|
rs570049997
|
0.00002
|
NM_001039141.3(TRIOBP):c.5891G>A (p.Arg1964His)
|
rs534138620
|
0.00002
|
NM_001039141.3(TRIOBP):c.5929C>T (p.Arg1977Trp)
|
rs367584370
|
0.00002
|
NM_001039141.3(TRIOBP):c.64C>T (p.Arg22Cys)
|
rs374228600
|
0.00002
|
NM_001039876.3(SYNE4):c.616C>T (p.Leu206=)
|
rs771897813
|
0.00002
|
NM_001042702.5(PJVK):c.762A>C (p.Glu254Asp)
|
rs770054482
|
0.00002
|
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp)
|
rs779997419
|
0.00002
|
NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg)
|
rs749184815
|
0.00002
|
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp)
|
rs1150181
|
0.00002
|
NM_001103.4(ACTN2):c.1108-3C>T
|
rs372488913
|
0.00002
|
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp)
|
rs397516571
|
0.00002
|
NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu)
|
rs370862426
|
0.00002
|
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys)
|
rs397516574
|
0.00002
|
NM_001103.4(ACTN2):c.536+6C>G
|
rs771398006
|
0.00002
|
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile)
|
rs771260546
|
0.00002
|
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys)
|
rs779109533
|
0.00002
|
NM_001105206.3(LAMA4):c.2225A>G (p.Asn742Ser)
|
rs374279330
|
0.00002
|
NM_001110219.3(GJB6):c.619G>A (p.Val207Met)
|
rs146231737
|
0.00002
|
NM_001122659.3(EDNRB):c.203C>T (p.Pro68Leu)
|
rs201737510
|
0.00002
|
NM_001128840.3(CACNA1D):c.2042C>T (p.Thr681Met)
|
rs369605872
|
0.00002
|
NM_001128840.3(CACNA1D):c.3709A>G (p.Met1237Val)
|
rs767083533
|
0.00002
|
NM_001128840.3(CACNA1D):c.5015G>A (p.Arg1672Gln)
|
rs148898845
|
0.00002
|
NM_001128840.3(CACNA1D):c.6289G>A (p.Asp2097Asn)
|
rs41276455
|
0.00002
|
NM_001134363.3(RBM20):c.1329C>G (p.Phe443Leu)
|
rs876657972
|
0.00002
|
NM_001134363.3(RBM20):c.1459G>A (p.Val487Met)
|
rs397516595
|
0.00002
|
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val)
|
rs397516602
|
0.00002
|
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg)
|
rs750988872
|
0.00002
|
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys)
|
rs397516628
|
0.00002
|
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val)
|
rs727503225
|
0.00002
|
NM_001145809.2(MYH14):c.4694G>A (p.Arg1565Gln)
|
rs374911327
|
0.00002
|
NM_001145809.2(MYH14):c.5271G>A (p.Ser1757=)
|
rs397516630
|
0.00002
|
NM_001195263.2(PDZD7):c.1538C>T (p.Pro513Leu)
|
rs572462059
|
0.00002
|
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp)
|
rs574768683
|
0.00002
|
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala)
|
rs188124777
|
0.00002
|
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe)
|
rs1249590916
|
0.00002
|
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser)
|
rs772054145
|
0.00002
|
NM_001199107.2(TBC1D24):c.836C>T (p.Thr279Met)
|
rs779234824
|
0.00002
|
NM_001232.4(CASQ2):c.479G>A (p.Arg160His)
|
rs372283956
|
0.00002
|
NM_001256317.3(TMPRSS3):c.1120G>A (p.Val374Met)
|
rs775508015
|
0.00002
|
NM_001256317.3(TMPRSS3):c.763G>T (p.Ala255Ser)
|
rs778263709
|
0.00002
|
NM_001267550.2(TTN):c.101159A>G (p.Lys33720Arg)
|
rs727503535
|
0.00002
|
NM_001267550.2(TTN):c.103859G>A (p.Arg34620His)
|
rs367927066
|
0.00002
|
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys)
|
rs727504918
|
0.00002
|
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)
|
rs727504491
|
0.00002
|
NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln)
|
rs56365812
|
0.00002
|
NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu)
|
rs727504462
|
0.00002
|
NM_001267550.2(TTN):c.107134A>C (p.Asn35712His)
|
rs727504949
|
0.00002
|
NM_001267550.2(TTN):c.107552T>C (p.Met35851Thr)
|
rs1310904463
|
0.00002
|
NM_001267550.2(TTN):c.13499A>G (p.Lys4500Arg)
|
rs727503655
|
0.00002
|
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr)
|
rs375417155
|
0.00002
|
NM_001267550.2(TTN):c.18292A>G (p.Thr6098Ala)
|
rs727505140
|
0.00002
|
NM_001267550.2(TTN):c.20468T>G (p.Val6823Gly)
|
rs529417675
|
0.00002
|
NM_001267550.2(TTN):c.21605C>G (p.Ser7202Cys)
|
rs747376234
|
0.00002
|
NM_001267550.2(TTN):c.24928T>A (p.Tyr8310Asn)
|
rs397517511
|
0.00002
|
NM_001267550.2(TTN):c.25162C>T (p.Pro8388Ser)
|
rs727503647
|
0.00002
|
NM_001267550.2(TTN):c.25510A>C (p.Met8504Leu)
|
rs761929830
|
0.00002
|
NM_001267550.2(TTN):c.25723G>A (p.Gly8575Arg)
|
rs397517517
|
0.00002
|
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr)
|
rs727503646
|
0.00002
|
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly)
|
rs536974988
|
0.00002
|
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln)
|
rs397517520
|
0.00002
|
NM_001267550.2(TTN):c.28606C>A (p.Pro9536Thr)
|
rs201121983
|
0.00002
|
NM_001267550.2(TTN):c.30707A>C (p.Asp10236Ala)
|
rs539986891
|
0.00002
|
NM_001267550.2(TTN):c.34058T>C (p.Phe11353Ser)
|
rs752527275
|
0.00002
|
NM_001267550.2(TTN):c.39457G>A (p.Val13153Met)
|
rs377259883
|
0.00002
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
NM_001267550.2(TTN):c.43702G>A (p.Val14568Ile)
|
rs372384272
|
0.00002
|
NM_001267550.2(TTN):c.44104G>C (p.Asp14702His)
|
rs727503627
|
0.00002
|
NM_001267550.2(TTN):c.45143T>C (p.Ile15048Thr)
|
rs727505261
|
0.00002
|
NM_001267550.2(TTN):c.47887A>G (p.Met15963Val)
|
rs397517590
|
0.00002
|
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys)
|
rs369262757
|
0.00002
|
NM_001267550.2(TTN):c.54493C>T (p.Arg18165Cys)
|
rs377575788
|
0.00002
|
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys)
|
rs537070177
|
0.00002
|
NM_001267550.2(TTN):c.56557C>T (p.His18853Tyr)
|
rs397517623
|
0.00002
|
NM_001267550.2(TTN):c.56900A>G (p.Asn18967Ser)
|
rs727503594
|
0.00002
|
NM_001267550.2(TTN):c.57292G>A (p.Val19098Ile)
|
rs727503592
|
0.00002
|
NM_001267550.2(TTN):c.57416T>C (p.Ile19139Thr)
|
rs727503591
|
0.00002
|
NM_001267550.2(TTN):c.59092G>T (p.Asp19698Tyr)
|
rs397517642
|
0.00002
|
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)
|
rs727504490
|
0.00002
|
NM_001267550.2(TTN):c.60571A>C (p.Ile20191Leu)
|
rs745806239
|
0.00002
|
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)
|
rs397517693
|
0.00002
|
NM_001267550.2(TTN):c.65158C>A (p.Pro21720Thr)
|
rs776953525
|
0.00002
|
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser)
|
rs727503576
|
0.00002
|
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg)
|
rs397517669
|
0.00002
|
NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr)
|
rs765930349
|
0.00002
|
NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys)
|
rs750101152
|
0.00002
|
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile)
|
rs752648041
|
0.00002
|
NM_001267550.2(TTN):c.73340G>A (p.Arg24447Lys)
|
rs377190830
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)
|
rs397517703
|
0.00002
|
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln)
|
rs536183519
|
0.00002
|
NM_001267550.2(TTN):c.80774G>A (p.Arg26925Lys)
|
rs748215561
|
0.00002
|
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)
|
rs377506142
|
0.00002
|
NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile)
|
rs727503551
|
0.00002
|
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val)
|
rs397517740
|
0.00002
|
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp)
|
rs727505280
|
0.00002
|
NM_001267550.2(TTN):c.94828G>A (p.Ala31610Thr)
|
rs141357723
|
0.00002
|
NM_001267550.2(TTN):c.95312G>A (p.Arg31771Lys)
|
rs397517760
|
0.00002
|
NM_001267550.2(TTN):c.95521A>G (p.Asn31841Asp)
|
rs794729540
|
0.00002
|
NM_001267550.2(TTN):c.97672C>T (p.Arg32558Trp)
|
rs727505090
|
0.00002
|
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)
|
rs144900708
|
0.00002
|
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)
|
rs727504245
|
0.00002
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
NM_001283009.2(RTEL1):c.2142-7C>G
|
rs879582201
|
0.00002
|
NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys)
|
rs186242388
|
0.00002
|
NM_001292063.2(OTOG):c.2782T>C (p.Cys928Arg)
|
rs1011979116
|
0.00002
|
NM_001292063.2(OTOG):c.3438G>A (p.Met1146Ile)
|
rs767774116
|
0.00002
|
NM_001292063.2(OTOG):c.3526-12G>C
|
rs749205983
|
0.00002
|
NM_001318895.3(FHL2):c.275G>A (p.Cys92Tyr)
|
rs765835400
|
0.00002
|
NM_001354604.2(MITF):c.217C>T (p.Arg73Cys)
|
rs1478130504
|
0.00002
|
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile)
|
rs749397968
|
0.00002
|
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)
|
rs386833403
|
0.00002
|
NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr)
|
rs727502945
|
0.00002
|
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr)
|
rs45630562
|
0.00002
|
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr)
|
rs373835067
|
0.00002
|
NM_001378609.3(OTOGL):c.2165C>A (p.Ala722Asp)
|
rs769499824
|
0.00002
|
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly)
|
rs12422945
|
0.00002
|
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val)
|
rs774172292
|
0.00002
|
NM_001378609.3(OTOGL):c.518C>T (p.Ser173Leu)
|
rs377611164
|
0.00002
|
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser)
|
rs397517450
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.607A>G (p.Thr203Ala)
|
rs200975767
|
0.00002
|
NM_001384474.1(LOXHD1):c.2728C>G (p.Pro910Ala)
|
rs1015707963
|
0.00002
|
NM_001384474.1(LOXHD1):c.3811A>G (p.Met1271Val)
|
rs1377630828
|
0.00002
|
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys)
|
rs774836161
|
0.00002
|
NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala)
|
rs776112233
|
0.00002
|
NM_001384474.1(LOXHD1):c.91G>C (p.Asp31His)
|
rs876657862
|
0.00002
|
NM_001614.5(ACTG1):c.*11C>T
|
rs782341016
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr)
|
rs397516705
|
0.00002
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala)
|
rs782653485
|
0.00002
|
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
|
rs782058451
|
0.00002
|
NM_002471.4(MYH6):c.1535T>C (p.Ile512Thr)
|
rs397516756
|
0.00002
|
NM_002471.4(MYH6):c.485A>G (p.Tyr162Cys)
|
rs397516772
|
0.00002
|
NM_002473.6(MYH9):c.1380T>C (p.Asp460=)
|
rs876657891
|
0.00002
|
NM_002473.6(MYH9):c.3082A>G (p.Met1028Val)
|
rs1205000981
|
0.00002
|
NM_002473.6(MYH9):c.491-7G>A
|
rs200059134
|
0.00002
|
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys)
|
rs727504863
|
0.00002
|
NM_002691.4(POLD1):c.1517G>A (p.Arg506His)
|
rs140379348
|
0.00002
|
NM_002700.3(POU4F3):c.103T>C (p.Cys35Arg)
|
rs147927112
|
0.00002
|
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser)
|
rs200286254
|
0.00002
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)
|
rs587778634
|
0.00002
|
NM_002880.3(RAF1):c.-361G>T
|
rs727504376
|
0.00002
|
NM_002880.4(RAF1):c.313C>G (p.His105Asp)
|
rs397516818
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_003019.5(SFTPD):c.883G>A (p.Ala295Thr)
|
rs369866808
|
0.00002
|
NM_003280.3(TNNC1):c.203-10C>G
|
rs727505237
|
0.00002
|
NM_003280.3(TNNC1):c.56-8G>A
|
rs727503495
|
0.00002
|
NM_003476.5(CSRP3):c.437G>A (p.Arg146His)
|
rs377066670
|
0.00002
|
NM_003673.4(TCAP):c.16C>A (p.Leu6Met)
|
rs201664428
|
0.00002
|
NM_003673.4(TCAP):c.301G>A (p.Ala101Thr)
|
rs727503455
|
0.00002
|
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)
|
rs773846324
|
0.00002
|
NM_004006.3(DMD):c.298G>A (p.Val100Ile)
|
rs779099343
|
0.00002
|
NM_004085.4(TIMM8A):c.-8G>T
|
rs782142925
|
0.00002
|
NM_004086.3(COCH):c.271C>T (p.Arg91Ter)
|
rs540895576
|
0.00002
|
NM_004086.3(COCH):c.582G>T (p.Met194Ile)
|
rs757768757
|
0.00002
|
NM_004230.4(S1PR2):c.781G>A (p.Val261Ile)
|
rs199824841
|
0.00002
|
NM_004281.4(BAG3):c.386C>T (p.Ala129Val)
|
rs876657747
|
0.00002
|
NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly)
|
rs141608069
|
0.00002
|
NM_004415.4(DSP):c.2794-6G>A
|
rs397516925
|
0.00002
|
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr)
|
rs763915365
|
0.00002
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val)
|
rs375919492
|
0.00002
|
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)
|
rs730880084
|
0.00002
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
NM_004415.4(DSP):c.797T>C (p.Met266Thr)
|
rs370890663
|
0.00002
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
NM_004517.4(ILK):c.778C>T (p.Pro260Ser)
|
rs750354350
|
0.00002
|
NM_004568.6(SERPINB6):c.58G>C (p.Gly20Arg)
|
rs775408746
|
0.00002
|
NM_004568.6(SERPINB6):c.845T>C (p.Met282Thr)
|
rs374321672
|
0.00002
|
NM_004700.4(KCNQ4):c.832A>G (p.Thr278Ala)
|
rs763326539
|
0.00002
|
NM_004985.5(KRAS):c.491G>A (p.Arg164Gln)
|
rs372793780
|
0.00002
|
NM_004999.4(MYO6):c.217C>G (p.Leu73Val)
|
rs759372006
|
0.00002
|
NM_004999.4(MYO6):c.2926G>T (p.Asp976Tyr)
|
rs201168408
|
0.00002
|
NM_004999.4(MYO6):c.3505C>T (p.Arg1169Cys)
|
rs144006872
|
0.00002
|
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val)
|
rs750951965
|
0.00002
|
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln)
|
rs751198294
|
0.00002
|
NM_005228.5(EGFR):c.2464G>A (p.Ala822Thr)
|
rs397517125
|
0.00002
|
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys)
|
rs369106578
|
0.00002
|
NM_005411.5(SFTPA1):c.649G>A (p.Ala217Thr)
|
rs876658000
|
0.00002
|
NM_005422.4(TECTA):c.2726G>A (p.Arg909His)
|
rs750620981
|
0.00002
|
NM_005422.4(TECTA):c.4471G>A (p.Gly1491Ser)
|
rs727503463
|
0.00002
|
NM_005422.4(TECTA):c.487-7C>G
|
rs368627411
|
0.00002
|
NM_005422.4(TECTA):c.6089T>C (p.Ile2030Thr)
|
rs876658017
|
0.00002
|
NM_005422.4(TECTA):c.907G>A (p.Glu303Lys)
|
rs774583320
|
0.00002
|
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)
|
rs200856070
|
0.00002
|
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys)
|
rs724160007
|
0.00002
|
NM_006005.3(WFS1):c.1552A>G (p.Met518Val)
|
rs747678800
|
0.00002
|
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys)
|
rs367547063
|
0.00002
|
NM_006231.4(POLE):c.4090C>T (p.Arg1364Cys)
|
rs770024304
|
0.00002
|
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met)
|
rs368364666
|
0.00002
|
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp)
|
rs771980261
|
0.00002
|
NM_006231.4(POLE):c.6493C>T (p.Arg2165Cys)
|
rs369549727
|
0.00002
|
NM_006393.3(NEBL):c.1963-13C>T
|
rs727504904
|
0.00002
|
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala)
|
rs780384504
|
0.00002
|
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter)
|
rs752922937
|
0.00002
|
NM_006393.3(NEBL):c.2485G>A (p.Val829Met)
|
rs727504979
|
0.00002
|
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala)
|
rs727503336
|
0.00002
|
NM_007078.3(LDB3):c.1696A>G (p.Met566Val)
|
rs775232208
|
0.00002
|
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln)
|
rs727504944
|
0.00002
|
NM_007078.3(LDB3):c.356C>T (p.Ala119Val)
|
rs397517223
|
0.00002
|
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln)
|
rs530979771
|
0.00002
|
NM_007078.3(LDB3):c.733G>A (p.Val245Ile)
|
rs573061464
|
0.00002
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
NM_014000.3(VCL):c.2746-14C>T
|
rs367598954
|
0.00002
|
NM_015340.4(LARS2):c.2278A>G (p.Ser760Gly)
|
rs781382275
|
0.00002
|
NM_015340.4(LARS2):c.2404+4C>T
|
rs199693918
|
0.00002
|
NM_015340.4(LARS2):c.2404+5G>A
|
rs752860955
|
0.00002
|
NM_015404.4(WHRN):c.1291C>T (p.Arg431Trp)
|
rs397517256
|
0.00002
|
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala)
|
rs556585167
|
0.00002
|
NM_015404.4(WHRN):c.2293G>C (p.Gly765Arg)
|
rs142685292
|
0.00002
|
NM_015404.4(WHRN):c.2645G>A (p.Arg882His)
|
rs760928525
|
0.00002
|
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln)
|
rs142808871
|
0.00002
|
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)
|
rs150140412
|
0.00002
|
NM_016239.4(MYO15A):c.1414T>A (p.Ser472Thr)
|
rs886042317
|
0.00002
|
NM_016239.4(MYO15A):c.2015C>G (p.Ser672Cys)
|
rs876657897
|
0.00002
|
NM_016239.4(MYO15A):c.4015C>T (p.Arg1339Trp)
|
rs374336846
|
0.00002
|
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys)
|
rs878854411
|
0.00002
|
NM_016239.4(MYO15A):c.4354G>A (p.Ala1452Thr)
|
rs752313077
|
0.00002
|
NM_016239.4(MYO15A):c.4483-6G>A
|
rs771397877
|
0.00002
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
NM_016239.4(MYO15A):c.4987G>A (p.Asp1663Asn)
|
rs876657899
|
0.00002
|
NM_016239.4(MYO15A):c.5870C>A (p.Ser1957Tyr)
|
rs876657901
|
0.00002
|
NM_016239.4(MYO15A):c.6957-13C>A
|
rs773985638
|
0.00002
|
NM_016239.4(MYO15A):c.8450G>A (p.Arg2817His)
|
rs761861080
|
0.00002
|
NM_016239.4(MYO15A):c.931G>T (p.Asp311Tyr)
|
rs876657906
|
0.00002
|
NM_016239.4(MYO15A):c.9593T>C (p.Ile3198Thr)
|
rs369742063
|
0.00002
|
NM_016239.4(MYO15A):c.9812G>A (p.Arg3271His)
|
rs373295633
|
0.00002
|
NM_016366.3(CABP2):c.659G>A (p.Arg220Gln)
|
rs143180247
|
0.00002
|
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val)
|
rs772659939
|
0.00002
|
NM_016599.5(MYOZ2):c.689G>A (p.Arg230Gln)
|
rs727503332
|
0.00002
|
NM_017433.5(MYO3A):c.168C>T (p.His56=)
|
rs201668920
|
0.00002
|
NM_017433.5(MYO3A):c.2849G>A (p.Arg950His)
|
rs143371522
|
0.00002
|
NM_017433.5(MYO3A):c.3747T>A (p.Asn1249Lys)
|
rs201263014
|
0.00002
|
NM_017433.5(MYO3A):c.4438+4A>G
|
rs756581092
|
0.00002
|
NM_017668.3(NDE1):c.130C>T (p.Arg44Ter)
|
rs747020521
|
0.00002
|
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu)
|
rs201793562
|
0.00002
|
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)
|
rs774508076
|
0.00002
|
NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys)
|
rs727504612
|
0.00002
|
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu)
|
rs778410296
|
0.00002
|
NM_022114.4(PRDM16):c.*14C>T
|
rs747277382
|
0.00002
|
NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe)
|
rs376537401
|
0.00002
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
NM_022124.6(CDH23):c.4046G>A (p.Arg1349His)
|
rs768452198
|
0.00002
|
NM_022124.6(CDH23):c.5168G>A (p.Arg1723His)
|
rs189361642
|
0.00002
|
NM_022124.6(CDH23):c.5632G>A (p.Ala1878Thr)
|
rs757570269
|
0.00002
|
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)
|
rs775436759
|
0.00002
|
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)
|
rs746961144
|
0.00002
|
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)
|
rs763721044
|
0.00002
|
NM_024334.3(TMEM43):c.1000+5G>T
|
rs376589026
|
0.00002
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)
|
rs397517386
|
0.00002
|
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp)
|
rs397517391
|
0.00002
|
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter)
|
rs397517395
|
0.00002
|
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys)
|
rs727504578
|
0.00002
|
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)
|
rs200802591
|
0.00002
|
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro)
|
rs397517409
|
0.00002
|
NM_024915.4(GRHL2):c.685C>T (p.Arg229Trp)
|
rs766515922
|
0.00002
|
NM_030662.4(MAP2K2):c.326C>T (p.Pro109Leu)
|
rs544242665
|
0.00002
|
NM_030662.4(MAP2K2):c.985C>T (p.Pro329Ser)
|
rs727504353
|
0.00002
|
NM_031475.3(ESPN):c.439G>A (p.Ala147Thr)
|
rs727504727
|
0.00002
|
NM_032119.4(ADGRV1):c.12869G>A (p.Arg4290His)
|
rs762515714
|
0.00002
|
NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val)
|
rs367826825
|
0.00002
|
NM_032119.4(ADGRV1):c.15667G>A (p.Gly5223Arg)
|
rs727505301
|
0.00002
|
NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His)
|
rs779671690
|
0.00002
|
NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala)
|
rs374609813
|
0.00002
|
NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His)
|
rs779520200
|
0.00002
|
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)
|
rs376900429
|
0.00002
|
NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala)
|
rs376559614
|
0.00002
|
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met)
|
rs727505056
|
0.00002
|
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg)
|
rs727505041
|
0.00002
|
NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr)
|
rs757910491
|
0.00002
|
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val)
|
rs760992741
|
0.00002
|
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala)
|
rs267606687
|
0.00002
|
NM_080680.3(COL11A2):c.338G>T (p.Gly113Val)
|
rs199946338
|
0.00002
|
NM_080680.3(COL11A2):c.3959G>A (p.Arg1320Gln)
|
rs372143434
|
0.00002
|
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)
|
rs201399429
|
0.00002
|
NM_133379.5(TTN):c.11757C>G (p.Phe3919Leu)
|
rs369074426
|
0.00002
|
NM_133379.5(TTN):c.11821C>T (p.Arg3941Cys)
|
rs397517804
|
0.00002
|
NM_133379.5(TTN):c.12409G>C (p.Asp4137His)
|
rs727504522
|
0.00002
|
NM_133379.5(TTN):c.13444A>G (p.Ile4482Val)
|
rs149169686
|
0.00002
|
NM_138691.3(TMC1):c.1404+4A>G
|
rs727503484
|
0.00002
|
NM_139319.3(SLC17A8):c.354+4G>C
|
rs727504846
|
0.00002
|
NM_144573.4(NEXN):c.-10T>C
|
rs727505219
|
0.00002
|
NM_144672.4(OTOA):c.1907C>G (p.Ala636Gly)
|
rs780071647
|
0.00002
|
NM_144672.4(OTOA):c.775T>C (p.Trp259Arg)
|
rs1476325639
|
0.00002
|
NM_144991.3(TSPEAR):c.608G>A (p.Arg203Gln)
|
rs781964053
|
0.00002
|
NM_147196.3(TMIE):c.211+5G>A
|
rs375470385
|
0.00002
|
NM_147196.3(TMIE):c.218C>T (p.Thr73Met)
|
rs770957465
|
0.00002
|
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg)
|
rs768207716
|
0.00002
|
NM_153700.2(STRC):c.2481-3C>A
|
rs1378890067
|
0.00002
|
NM_153700.2(STRC):c.3661A>C (p.Thr1221Pro)
|
rs780948412
|
0.00002
|
NM_170682.4(P2RX2):c.906-13G>A
|
rs757748091
|
0.00002
|
NM_170707.4(LMNA):c.986G>A (p.Arg329His)
|
rs397517913
|
0.00002
|
NM_173477.5(USH1G):c.-1C>T
|
rs727504576
|
0.00002
|
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His)
|
rs370507566
|
0.00002
|
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser)
|
rs149489325
|
0.00002
|
NM_181458.4(PAX3):c.572T>C (p.Ile191Thr)
|
rs199560470
|
0.00002
|
NM_181458.4(PAX3):c.958+6G>A
|
rs558822810
|
0.00002
|
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys)
|
rs766646613
|
0.00002
|
NM_194248.3(OTOF):c.146G>A (p.Arg49Gln)
|
rs111033444
|
0.00002
|
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln)
|
rs397517934
|
0.00002
|
NM_194248.3(OTOF):c.2453G>A (p.Arg818Gln)
|
rs748844952
|
0.00002
|
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His)
|
rs150782952
|
0.00002
|
NM_194248.3(OTOF):c.322A>G (p.Ile108Val)
|
rs727505189
|
0.00002
|
NM_194248.3(OTOF):c.3401G>A (p.Arg1134Gln)
|
rs397517943
|
0.00002
|
NM_194248.3(OTOF):c.4342C>T (p.Arg1448Cys)
|
rs727503355
|
0.00002
|
NM_194248.3(OTOF):c.4440G>T (p.Met1480Ile)
|
rs727503354
|
0.00002
|
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp)
|
rs727504985
|
0.00002
|
NM_194248.3(OTOF):c.632G>A (p.Arg211Gln)
|
rs111033535
|
0.00002
|
NM_198173.3(GRHL3):c.140T>C (p.Met47Thr)
|
rs754006408
|
0.00002
|
NM_201384.3(PLEC):c.6790C>T (p.Arg2264Cys)
|
rs371749261
|
0.00002
|
NM_203447.4(DOCK8):c.4109G>A (p.Arg1370His)
|
rs753480025
|
0.00002
|
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile)
|
rs533179037
|
0.00002
|
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)
|
rs551424240
|
0.00002
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)
|
rs768253909
|
0.00002
|
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr)
|
rs759365458
|
0.00002
|
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr)
|
rs876658116
|
0.00002
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp)
|
rs121912982
|
0.00001
|
NM_000038.6(APC):c.1498T>C (p.Tyr500His)
|
rs762019672
|
0.00001
|
NM_000038.6(APC):c.1743+6T>C
|
rs766973462
|
0.00001
|
NM_000038.6(APC):c.1829A>G (p.Asp610Gly)
|
rs756090401
|
0.00001
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
NM_000038.6(APC):c.4100A>G (p.Gln1367Arg)
|
rs1399790840
|
0.00001
|
NM_000038.6(APC):c.4101G>C (p.Gln1367His)
|
rs761886683
|
0.00001
|
NM_000038.6(APC):c.5866A>G (p.Ile1956Val)
|
rs749597014
|
0.00001
|
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp)
|
rs374464049
|
0.00001
|
NM_000038.6(APC):c.7498C>G (p.Gln2500Glu)
|
rs372535376
|
0.00001
|
NM_000038.6(APC):c.933+5C>A
|
rs573528468
|
0.00001
|
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile)
|
rs767567428
|
0.00001
|
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly)
|
rs80359090
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln)
|
rs1478610555
|
0.00001
|
NM_000104.4(CYP1B1):c.16A>G (p.Ser6Gly)
|
rs369115487
|
0.00001
|
NM_000104.4(CYP1B1):c.503G>A (p.Gly168Asp)
|
rs200724605
|
0.00001
|
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile)
|
rs727503454
|
0.00001
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
NM_000117.3(EMD):c.494C>T (p.Thr165Met)
|
rs397515751
|
0.00001
|
NM_000138.5(FBN1):c.165-7G>A
|
rs397515761
|
0.00001
|
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val)
|
rs141551765
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn)
|
rs199625633
|
0.00001
|
NM_000138.5(FBN1):c.3209-3C>A
|
rs397515787
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.370A>G (p.Met124Val)
|
rs764224168
|
0.00001
|
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)
|
rs370923981
|
0.00001
|
NM_000138.5(FBN1):c.5509C>T (p.Pro1837Ser)
|
rs755430984
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp)
|
rs397515860
|
0.00001
|
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr)
|
rs765839151
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)
|
rs746631156
|
0.00001
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val)
|
rs182024561
|
0.00001
|
NM_000179.3(MSH6):c.3649A>G (p.Arg1217Gly)
|
rs587780677
|
0.00001
|
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)
|
rs587779285
|
0.00001
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro)
|
rs730881809
|
0.00001
|
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly)
|
rs774162322
|
0.00001
|
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys)
|
rs727505003
|
0.00001
|
NM_000218.3(KCNQ1):c.1202G>A (p.Arg401Gln)
|
rs542628042
|
0.00001
|
NM_000218.3(KCNQ1):c.1295C>T (p.Thr432Ile)
|
rs751644427
|
0.00001
|
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val)
|
rs189794855
|
0.00001
|
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys)
|
rs775059928
|
0.00001
|
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)
|
rs74315446
|
0.00001
|
NM_000229.2(LCAT):c.605T>C (p.Ile202Thr)
|
rs376973514
|
0.00001
|
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile)
|
rs199472908
|
0.00001
|
NM_000251.3(MSH2):c.2053A>G (p.Ile685Val)
|
rs1060499876
|
0.00001
|
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu)
|
rs63750849
|
0.00001
|
NM_000251.3(MSH2):c.645+3A>G
|
rs587779168
|
0.00001
|
NM_000251.3(MSH2):c.764G>A (p.Ser255Asn)
|
rs763184168
|
0.00001
|
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)
|
rs397515883
|
0.00001
|
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)
|
rs397515884
|
0.00001
|
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser)
|
rs727505266
|
0.00001
|
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His)
|
rs374255707
|
0.00001
|
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys)
|
rs397515899
|
0.00001
|
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln)
|
rs776734314
|
0.00001
|
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met)
|
rs730880543
|
0.00001
|
NM_000256.3(MYBPC3):c.1540A>G (p.Ile514Val)
|
rs727503200
|
0.00001
|
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His)
|
rs397515923
|
0.00001
|
NM_000256.3(MYBPC3):c.1778C>T (p.Ser593Phe)
|
rs397515924
|
0.00001
|
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr)
|
rs397515941
|
0.00001
|
NM_000256.3(MYBPC3):c.2170C>T (p.Arg724Trp)
|
rs200399246
|
0.00001
|
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met)
|
rs369790992
|
0.00001
|
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr)
|
rs368104687
|
0.00001
|
NM_000256.3(MYBPC3):c.2347G>T (p.Val783Leu)
|
rs1060499878
|
0.00001
|
NM_000256.3(MYBPC3):c.2398G>A (p.Gly800Arg)
|
rs727504574
|
0.00001
|
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln)
|
rs397515964
|
0.00001
|
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln)
|
rs397515969
|
0.00001
|
NM_000256.3(MYBPC3):c.2557G>A (p.Gly853Ser)
|
rs397515976
|
0.00001
|
NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile)
|
rs727504360
|
0.00001
|
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp)
|
rs727504418
|
0.00001
|
NM_000256.3(MYBPC3):c.2714G>A (p.Ser905Asn)
|
rs397515983
|
0.00001
|
NM_000256.3(MYBPC3):c.2723A>G (p.Tyr908Cys)
|
rs397515984
|
0.00001
|
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp)
|
rs534366414
|
0.00001
|
NM_000256.3(MYBPC3):c.2833C>T (p.Arg945Trp)
|
rs727503183
|
0.00001
|
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys)
|
rs397515994
|
0.00001
|
NM_000256.3(MYBPC3):c.2993A>G (p.Gln998Arg)
|
rs727503177
|
0.00001
|
NM_000256.3(MYBPC3):c.2995-5C>G
|
rs376083315
|
0.00001
|
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln)
|
rs397516003
|
0.00001
|
NM_000256.3(MYBPC3):c.326C>T (p.Ala109Val)
|
rs397516011
|
0.00001
|
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys)
|
rs727503173
|
0.00001
|
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)
|
rs397516018
|
0.00001
|
NM_000256.3(MYBPC3):c.3490+6G>A
|
rs397516021
|
0.00001
|
NM_000256.3(MYBPC3):c.355G>A (p.Glu119Lys)
|
rs397516025
|
0.00001
|
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp)
|
rs727503171
|
0.00001
|
NM_000256.3(MYBPC3):c.3685A>G (p.Met1229Val)
|
rs727503169
|
0.00001
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
NM_000256.3(MYBPC3):c.3815-10T>G
|
rs397516043
|
0.00001
|
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro)
|
rs397516048
|
0.00001
|
NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn)
|
rs397516051
|
0.00001
|
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr)
|
rs397516053
|
0.00001
|
NM_000256.3(MYBPC3):c.517A>G (p.Thr173Ala)
|
rs727505168
|
0.00001
|
NM_000256.3(MYBPC3):c.745T>C (p.Cys249Arg)
|
rs397516071
|
0.00001
|
NM_000256.3(MYBPC3):c.852-6C>T
|
rs397516078
|
0.00001
|
NM_000256.3(MYBPC3):c.926+1G>A
|
rs767239679
|
0.00001
|
NM_000257.4(MYH7):c.1139-14C>T
|
rs397516091
|
0.00001
|
NM_000257.4(MYH7):c.1315A>T (p.Met439Leu)
|
rs370310929
|
0.00001
|
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)
|
rs397516119
|
0.00001
|
NM_000257.4(MYH7):c.1684A>G (p.Asn562Asp)
|
rs397516118
|
0.00001
|
NM_000257.4(MYH7):c.184G>A (p.Glu62Lys)
|
rs727504416
|
0.00001
|
NM_000257.4(MYH7):c.1888C>T (p.Pro630Ser)
|
rs397516124
|
0.00001
|
NM_000257.4(MYH7):c.1892T>C (p.Ile631Thr)
|
rs397516125
|
0.00001
|
NM_000257.4(MYH7):c.208A>T (p.Thr70Ser)
|
rs397516129
|
0.00001
|
NM_000257.4(MYH7):c.2168G>A (p.Arg723His)
|
rs397516135
|
0.00001
|
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)
|
rs397516158
|
0.00001
|
NM_000257.4(MYH7):c.2846A>T (p.Glu949Val)
|
rs397516175
|
0.00001
|
NM_000257.4(MYH7):c.2899G>A (p.Glu967Lys)
|
rs727503250
|
0.00001
|
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn)
|
rs727504388
|
0.00001
|
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)
|
rs201195256
|
0.00001
|
NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val)
|
rs727504358
|
0.00001
|
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)
|
rs397516179
|
0.00001
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
NM_000257.4(MYH7):c.3245+3A>T
|
rs727505355
|
0.00001
|
NM_000257.4(MYH7):c.343T>C (p.Tyr115His)
|
rs397516183
|
0.00001
|
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val)
|
rs397516184
|
0.00001
|
NM_000257.4(MYH7):c.3464G>A (p.Gly1155Glu)
|
rs397516186
|
0.00001
|
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)
|
rs397516187
|
0.00001
|
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg)
|
rs397516188
|
0.00001
|
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln)
|
rs397516192
|
0.00001
|
NM_000257.4(MYH7):c.37G>A (p.Ala13Thr)
|
rs759231966
|
0.00001
|
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)
|
rs397516195
|
0.00001
|
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys)
|
rs397516196
|
0.00001
|
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr)
|
rs397516198
|
0.00001
|
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu)
|
rs397516199
|
0.00001
|
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)
|
rs727503246
|
0.00001
|
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys)
|
rs45451303
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.4388C>T (p.Ser1463Leu)
|
rs890401818
|
0.00001
|
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu)
|
rs727505329
|
0.00001
|
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala)
|
rs397516218
|
0.00001
|
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu)
|
rs397516221
|
0.00001
|
NM_000257.4(MYH7):c.4644+3G>A
|
rs397516226
|
0.00001
|
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)
|
rs750987717
|
0.00001
|
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys)
|
rs200530211
|
0.00001
|
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)
|
rs373514686
|
0.00001
|
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val)
|
rs757090529
|
0.00001
|
NM_000257.4(MYH7):c.4864C>T (p.Leu1622Phe)
|
rs397516231
|
0.00001
|
NM_000257.4(MYH7):c.4954-14C>G
|
rs727505070
|
0.00001
|
NM_000257.4(MYH7):c.50G>A (p.Arg17His)
|
rs727503280
|
0.00001
|
NM_000257.4(MYH7):c.5191G>A (p.Asp1731Asn)
|
rs876657885
|
0.00001
|
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)
|
rs727505294
|
0.00001
|
NM_000257.4(MYH7):c.530C>T (p.Thr177Ile)
|
rs752930302
|
0.00001
|
NM_000257.4(MYH7):c.531-5C>T
|
rs397516243
|
0.00001
|
NM_000257.4(MYH7):c.5341C>T (p.Arg1781Cys)
|
rs397516245
|
0.00001
|
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)
|
rs143362532
|
0.00001
|
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)
|
rs45520836
|
0.00001
|
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)
|
rs121913652
|
0.00001
|
NM_000257.4(MYH7):c.5656-8T>G
|
rs397516251
|
0.00001
|
NM_000257.4(MYH7):c.5749G>T (p.Val1917Phe)
|
rs397516255
|
0.00001
|
NM_000257.4(MYH7):c.5762G>A (p.Arg1921Gln)
|
rs397516256
|
0.00001
|
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln)
|
rs727504273
|
0.00001
|
NM_000258.3(MYL3):c.517A>G (p.Met173Val)
|
rs199474708
|
0.00001
|
NM_000258.3(MYL3):c.82G>A (p.Glu28Lys)
|
rs754220375
|
0.00001
|
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His)
|
rs397516282
|
0.00001
|
NM_000260.4(MYO7A):c.1138G>A (p.Glu380Lys)
|
rs876657913
|
0.00001
|
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile)
|
rs1162724549
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
NM_000260.4(MYO7A):c.1617C>G (p.Ile539Met)
|
rs782450807
|
0.00001
|
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)
|
rs968552859
|
0.00001
|
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg)
|
rs397516289
|
0.00001
|
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)
|
rs782503314
|
0.00001
|
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu)
|
rs782485961
|
0.00001
|
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys)
|
rs995330889
|
0.00001
|
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys)
|
rs781869469
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.3375+3G>A
|
rs397516299
|
0.00001
|
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val)
|
rs797044517
|
0.00001
|
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)
|
rs782350886
|
0.00001
|
NM_000260.4(MYO7A):c.359G>A (p.Arg120His)
|
rs369493667
|
0.00001
|
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser)
|
rs769771981
|
0.00001
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val)
|
rs756854177
|
0.00001
|
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)
|
rs111033485
|
0.00001
|
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg)
|
rs771889662
|
0.00001
|
NM_000260.4(MYO7A):c.5243C>T (p.Thr1748Met)
|
rs752373714
|
0.00001
|
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg)
|
rs397516319
|
0.00001
|
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg)
|
rs373886432
|
0.00001
|
NM_000260.4(MYO7A):c.5752G>A (p.Val1918Met)
|
rs958153438
|
0.00001
|
NM_000260.4(MYO7A):c.6173A>G (p.Lys2058Arg)
|
rs111033336
|
0.00001
|
NM_000260.4(MYO7A):c.6205A>T (p.Ile2069Phe)
|
rs1046633522
|
0.00001
|
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met)
|
rs769205075
|
0.00001
|
NM_000260.4(MYO7A):c.6570G>A (p.Met2190Ile)
|
rs376900309
|
0.00001
|
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter)
|
rs747095250
|
0.00001
|
NM_000283.4(PDE6B):c.1920+2T>C
|
rs763996159
|
0.00001
|
NM_000307.5(POU3F4):c.59C>A (p.Ala20Glu)
|
rs755424605
|
0.00001
|
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)
|
rs779687673
|
0.00001
|
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val)
|
rs727505131
|
0.00001
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn)
|
rs199473157
|
0.00001
|
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)
|
rs199473584
|
0.00001
|
NM_000335.5(SCN5A):c.2542A>T (p.Ile848Phe)
|
rs199473166
|
0.00001
|
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)
|
rs199473177
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.2977G>A (p.Ala993Thr)
|
rs770088052
|
0.00001
|
NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser)
|
rs794728871
|
0.00001
|
NM_000335.5(SCN5A):c.3247G>C (p.Gly1083Arg)
|
rs199473190
|
0.00001
|
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr)
|
rs199473595
|
0.00001
|
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val)
|
rs727503407
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)
|
rs45514691
|
0.00001
|
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn)
|
rs1060499900
|
0.00001
|
NM_000335.5(SCN5A):c.5165C>A (p.Thr1722Asn)
|
rs199473300
|
0.00001
|
NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)
|
rs369058100
|
0.00001
|
NM_000335.5(SCN5A):c.5606C>A (p.Ala1869Asp)
|
rs727504759
|
0.00001
|
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His)
|
rs370694515
|
0.00001
|
NM_000335.5(SCN5A):c.656G>A (p.Arg219His)
|
rs878855296
|
0.00001
|
NM_000335.5(SCN5A):c.820G>A (p.Gly274Ser)
|
rs794728852
|
0.00001
|
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro)
|
rs199473564
|
0.00001
|
NM_000337.6(SGCD):c.193-12G>T
|
rs727503421
|
0.00001
|
NM_000337.6(SGCD):c.506C>T (p.Ala169Val)
|
rs876658001
|
0.00001
|
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr)
|
rs545441942
|
0.00001
|
NM_000363.5(TNNI3):c.233C>T (p.Thr78Ile)
|
rs786205288
|
0.00001
|
NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys)
|
rs397516344
|
0.00001
|
NM_000363.5(TNNI3):c.368C>T (p.Thr123Met)
|
rs397516345
|
0.00001
|
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln)
|
rs727503506
|
0.00001
|
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)
|
rs397516348
|
0.00001
|
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)
|
rs727504285
|
0.00001
|
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys)
|
rs727504243
|
0.00001
|
NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu)
|
rs730881084
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000371.4(TTR):c.337-3T>C
|
rs774027595
|
0.00001
|
NM_000371.4(TTR):c.68C>T (p.Thr23Met)
|
rs377052919
|
0.00001
|
NM_000384.3(APOB):c.13154G>A (p.Arg4385His)
|
rs533755016
|
0.00001
|
NM_000400.4(ERCC2):c.1238G>T (p.Gly413Val)
|
rs1218421285
|
0.00001
|
NM_000432.4(MYL2):c.101C>T (p.Thr34Ile)
|
rs876657894
|
0.00001
|
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu)
|
rs199474809
|
0.00001
|
NM_000432.4(MYL2):c.278C>A (p.Ala93Glu)
|
rs774193307
|
0.00001
|
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg)
|
rs397516402
|
0.00001
|
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)
|
rs727504341
|
0.00001
|
NM_000441.2(SLC26A4):c.1054G>A (p.Ala352Thr)
|
rs397516412
|
0.00001
|
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser)
|
rs1298350213
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-14A>G
|
rs1453109539
|
0.00001
|
NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro)
|
rs397516422
|
0.00001
|
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys)
|
rs375645779
|
0.00001
|
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro)
|
rs727504303
|
0.00001
|
NM_000441.2(SLC26A4):c.283G>A (p.Gly95Arg)
|
rs111033398
|
0.00001
|
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val)
|
rs111033365
|
0.00001
|
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln)
|
rs766126240
|
0.00001
|
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)
|
rs374253638
|
0.00001
|
NM_000503.6(EYA1):c.-24G>T
|
rs759264949
|
0.00001
|
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)
|
rs121909199
|
0.00001
|
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser)
|
rs747476629
|
0.00001
|
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro)
|
rs1007684729
|
0.00001
|
NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys)
|
rs374772533
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile)
|
rs767546791
|
0.00001
|
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe)
|
rs748698776
|
0.00001
|
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu)
|
rs777845808
|
0.00001
|
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys)
|
rs193922776
|
0.00001
|
NM_000540.3(RYR1):c.6549-8G>A
|
rs756593088
|
0.00001
|
NM_000540.3(RYR1):c.6564C>G (p.Asn2188Lys)
|
rs373570763
|
0.00001
|
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)
|
rs193922829
|
0.00001
|
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)
|
rs759717253
|
0.00001
|
NM_000546.6(TP53):c.993+309C>T
|
rs758194998
|
0.00001
|
NM_000601.6(HGF):c.1343A>G (p.His448Arg)
|
rs1789738571
|
0.00001
|
NM_000601.6(HGF):c.146C>A (p.Thr49Asn)
|
rs368094683
|
0.00001
|
NM_000601.6(HGF):c.1540A>G (p.Arg514Gly)
|
rs876657831
|
0.00001
|
NM_000601.6(HGF):c.2011-3dup
|
rs1363809103
|
0.00001
|
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr)
|
rs397516985
|
0.00001
|
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr)
|
rs397517011
|
0.00001
|
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys)
|
rs727503370
|
0.00001
|
NM_001005242.3(PKP2):c.222C>A (p.Asn74Lys)
|
rs753180642
|
0.00001
|
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp)
|
rs727504950
|
0.00001
|
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)
|
rs397517023
|
0.00001
|
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys)
|
rs781739949
|
0.00001
|
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg)
|
rs397517026
|
0.00001
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
NM_001005242.3(PKP2):c.516C>A (p.Ser172Arg)
|
rs397517028
|
0.00001
|
NM_001010892.3(RSPH4A):c.65G>A (p.Arg22Gln)
|
rs762438592
|
0.00001
|
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter)
|
rs104894501
|
0.00001
|
NM_001018005.2(TPM1):c.240+4518A>T
|
rs876658033
|
0.00001
|
NM_001018005.2(TPM1):c.493-6C>T
|
rs397516374
|
0.00001
|
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val)
|
rs397516376
|
0.00001
|
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr)
|
rs397516382
|
0.00001
|
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn)
|
rs397516391
|
0.00001
|
NM_001018005.2(TPM1):c.82G>C (p.Asp28His)
|
rs397516391
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val)
|
rs199476322
|
0.00001
|
NM_001018005.2(TPM1):c.91G>A (p.Ala31Thr)
|
rs397516396
|
0.00001
|
NM_001018116.2(CAVIN4):c.632G>A (p.Arg211Gln)
|
rs200590850
|
0.00001
|
NM_001032283.3(TMPO):c.565+1137G>A
|
rs375903462
|
0.00001
|
NM_001032283.3(TMPO):c.565+1606C>T
|
rs727505047
|
0.00001
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
NM_001035.3(RYR2):c.11040-3C>T
|
rs876657984
|
0.00001
|
NM_001035.3(RYR2):c.11174T>C (p.Leu3725Pro)
|
rs727505346
|
0.00001
|
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)
|
rs397516506
|
0.00001
|
NM_001035.3(RYR2):c.13328+3A>G
|
rs776115513
|
0.00001
|
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg)
|
rs747584325
|
0.00001
|
NM_001035.3(RYR2):c.13504A>C (p.Met4502Leu)
|
rs876657985
|
0.00001
|
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)
|
rs371157868
|
0.00001
|
NM_001035.3(RYR2):c.2786G>A (p.Arg929His)
|
rs876657988
|
0.00001
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser)
|
rs727504969
|
0.00001
|
NM_001035.3(RYR2):c.365G>A (p.Arg122His)
|
rs727503396
|
0.00001
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met)
|
rs761181641
|
0.00001
|
NM_001035.3(RYR2):c.463+6C>T
|
rs397516533
|
0.00001
|
NM_001035.3(RYR2):c.4723C>T (p.His1575Tyr)
|
rs397516535
|
0.00001
|
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr)
|
rs397516542
|
0.00001
|
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr)
|
rs767728159
|
0.00001
|
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp)
|
rs771469528
|
0.00001
|
NM_001035.3(RYR2):c.7117G>T (p.Asp2373Tyr)
|
rs397516548
|
0.00001
|
NM_001035.3(RYR2):c.848+1G>A
|
rs772984053
|
0.00001
|
NM_001035.3(RYR2):c.994C>T (p.Arg332Trp)
|
rs876657995
|
0.00001
|
NM_001035.3(RYR2):c.9962C>T (p.Pro3321Leu)
|
rs747933306
|
0.00001
|
NM_001038603.3(MARVELD2):c.1147-2A>G
|
rs763062791
|
0.00001
|
NM_001038603.3(MARVELD2):c.1204G>A (p.Asp402Asn)
|
rs727503160
|
0.00001
|
NM_001039141.3(TRIOBP):c.-3A>G
|
rs779160270
|
0.00001
|
NM_001039141.3(TRIOBP):c.115-12A>T
|
rs781452420
|
0.00001
|
NM_001039141.3(TRIOBP):c.4009C>G (p.Gln1337Glu)
|
rs372970338
|
0.00001
|
NM_001039141.3(TRIOBP):c.4062+5G>A
|
rs876658037
|
0.00001
|
NM_001039141.3(TRIOBP):c.5185-12C>G
|
rs774556951
|
0.00001
|
NM_001039141.3(TRIOBP):c.5528C>T (p.Thr1843Met)
|
rs528806680
|
0.00001
|
NM_001039141.3(TRIOBP):c.5575C>G (p.His1859Asp)
|
rs780379130
|
0.00001
|
NM_001039141.3(TRIOBP):c.5693C>T (p.Ser1898Leu)
|
rs727503523
|
0.00001
|
NM_001039141.3(TRIOBP):c.5869C>T (p.Gln1957Ter)
|
rs1277466514
|
0.00001
|
NM_001039141.3(TRIOBP):c.6324+240G>A
|
rs876658038
|
0.00001
|
NM_001039213.4(CEACAM16):c.1054C>T (p.Arg352Cys)
|
rs747961516
|
0.00001
|
NM_001039876.3(SYNE4):c.972+5G>A
|
rs369269989
|
0.00001
|
NM_001042492.3(NF1):c.4835+3A>G
|
rs1417732851
|
0.00001
|
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)
|
rs771597781
|
0.00001
|
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr)
|
rs749672954
|
0.00001
|
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)
|
rs371151718
|
0.00001
|
NM_001042492.3(NF1):c.862G>A (p.Val288Met)
|
rs755670651
|
0.00001
|
NM_001042545.2(LTBP4):c.3485C>T (p.Ala1162Val)
|
rs1555741927
|
0.00001
|
NM_001042545.2(LTBP4):c.4348G>C (p.Glu1450Gln)
|
rs187448224
|
0.00001
|
NM_001042702.5(PJVK):c.53G>T (p.Arg18Ile)
|
rs397516555
|
0.00001
|
NM_001042702.5(PJVK):c.548G>A (p.Arg183Gln)
|
rs760036509
|
0.00001
|
NM_001042702.5(PJVK):c.766A>C (p.Asn256His)
|
rs727502958
|
0.00001
|
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
|
rs755653922
|
0.00001
|
NM_001080476.3(GRXCR1):c.152G>A (p.Gly51Glu)
|
rs727505186
|
0.00001
|
NM_001080476.3(GRXCR1):c.296T>C (p.Ile99Thr)
|
rs727503088
|
0.00001
|
NM_001080476.3(GRXCR1):c.358T>C (p.Phe120Leu)
|
rs529420082
|
0.00001
|
NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser)
|
rs376923220
|
0.00001
|
NM_001103.4(ACTN2):c.2302-3C>A
|
rs727505174
|
0.00001
|
NM_001103.4(ACTN2):c.2306A>C (p.Lys769Thr)
|
rs397516573
|
0.00001
|
NM_001103.4(ACTN2):c.706A>G (p.Asn236Asp)
|
rs1193355360
|
0.00001
|
NM_001105206.3(LAMA4):c.1078-14C>T
|
rs397516714
|
0.00001
|
NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr)
|
rs782574915
|
0.00001
|
NM_001105206.3(LAMA4):c.2026G>A (p.Ala676Thr)
|
rs397516721
|
0.00001
|
NM_001105206.3(LAMA4):c.2215G>A (p.Glu739Lys)
|
rs727504935
|
0.00001
|
NM_001105206.3(LAMA4):c.2782C>A (p.Pro928Thr)
|
rs727505130
|
0.00001
|
NM_001105206.3(LAMA4):c.398C>G (p.Pro133Arg)
|
rs876657842
|
0.00001
|
NM_001105206.3(LAMA4):c.4052A>G (p.Lys1351Arg)
|
rs876657843
|
0.00001
|
NM_001105206.3(LAMA4):c.4476-3C>A
|
rs397516731
|
0.00001
|
NM_001105206.3(LAMA4):c.4476-4C>A
|
rs727505042
|
0.00001
|
NM_001105206.3(LAMA4):c.4982-3del
|
rs727505356
|
0.00001
|
NM_001122659.3(EDNRB):c.*1632C>A
|
rs876657804
|
0.00001
|
NM_001122659.3(EDNRB):c.532C>A (p.Pro178Thr)
|
rs201311945
|
0.00001
|
NM_001122659.3(EDNRB):c.748A>G (p.Ser250Gly)
|
rs199521140
|
0.00001
|
NM_001127453.2(GSDME):c.1331G>T (p.Arg444Met)
|
rs780683974
|
0.00001
|
NM_001128159.3(VPS53):c.1750C>T (p.Arg584Ter)
|
rs781484164
|
0.00001
|
NM_001128228.3(TPRN):c.1742A>G (p.Asn581Ser)
|
rs773521640
|
0.00001
|
NM_001128840.3(CACNA1D):c.1555G>A (p.Ala519Thr)
|
rs138150805
|
0.00001
|
NM_001128840.3(CACNA1D):c.2261A>G (p.Asn754Ser)
|
rs1316050748
|
0.00001
|
NM_001128840.3(CACNA1D):c.3748G>A (p.Val1250Ile)
|
rs748437057
|
0.00001
|
NM_001128840.3(CACNA1D):c.3862G>A (p.Glu1288Lys)
|
rs781171340
|
0.00001
|
NM_001128840.3(CACNA1D):c.6373C>T (p.Arg2125Trp)
|
rs373663753
|
0.00001
|
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met)
|
rs1294912316
|
0.00001
|
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr)
|
rs876657970
|
0.00001
|
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg)
|
rs727505308
|
0.00001
|
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg)
|
rs774916799
|
0.00001
|
NM_001134363.3(RBM20):c.1538G>A (p.Arg513Gln)
|
rs876657974
|
0.00001
|
NM_001134363.3(RBM20):c.1658C>T (p.Ser553Leu)
|
rs993569055
|
0.00001
|
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys)
|
rs267607002
|
0.00001
|
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys)
|
rs397516598
|
0.00001
|
NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys)
|
rs397516600
|
0.00001
|
NM_001134363.3(RBM20):c.3022C>T (p.Arg1008Trp)
|
rs397516610
|
0.00001
|
NM_001134363.3(RBM20):c.3500G>T (p.Gly1167Val)
|
rs371754487
|
0.00001
|
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val)
|
rs397516618
|
0.00001
|
NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp)
|
rs727504943
|
0.00001
|
NM_001145308.5(LRTOMT):c.53A>C (p.Asp18Ala)
|
rs876657865
|
0.00001
|
NM_001145809.2(MYH14):c.2701C>A (p.Pro901Thr)
|
rs1324093100
|
0.00001
|
NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys)
|
rs757658628
|
0.00001
|
NM_001145809.2(MYH14):c.3322C>T (p.Arg1108Cys)
|
rs769702697
|
0.00001
|
NM_001145809.2(MYH14):c.3914G>A (p.Arg1305His)
|
rs876657873
|
0.00001
|
NM_001145809.2(MYH14):c.4264C>T (p.Arg1422Cys)
|
rs727503226
|
0.00001
|
NM_001145809.2(MYH14):c.4486C>G (p.Gln1496Glu)
|
rs141995460
|
0.00001
|
NM_001145809.2(MYH14):c.4885G>T (p.Ala1629Ser)
|
rs754931173
|
0.00001
|
NM_001145809.2(MYH14):c.5345+6T>C
|
rs876657874
|
0.00001
|
NM_001145809.2(MYH14):c.5369G>A (p.Arg1790His)
|
rs747480201
|
0.00001
|
NM_001145809.2(MYH14):c.5548C>T (p.Arg1850Trp)
|
rs201474958
|
0.00001
|
NM_001145809.2(MYH14):c.5644G>A (p.Ala1882Thr)
|
rs200566974
|
0.00001
|
NM_001145809.2(MYH14):c.6058G>A (p.Gly2020Arg)
|
rs1006372999
|
0.00001
|
NM_001145809.2(MYH14):c.6088T>A (p.Ser2030Thr)
|
rs727503231
|
0.00001
|
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys)
|
rs72547524
|
0.00001
|
NM_001195263.2(PDZD7):c.685G>A (p.Gly229Ser)
|
rs765376342
|
0.00001
|
NM_001199107.2(TBC1D24):c.*2G>A
|
rs780054979
|
0.00001
|
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His)
|
rs796053405
|
0.00001
|
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)
|
rs761934676
|
0.00001
|
NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys)
|
rs376510686
|
0.00001
|
NM_001199799.2(ILDR1):c.1388G>A (p.Arg463His)
|
rs199571441
|
0.00001
|
NM_001199799.2(ILDR1):c.1433C>T (p.Ser478Phe)
|
rs727503096
|
0.00001
|
NM_001199799.2(ILDR1):c.73C>G (p.Leu25Val)
|
rs727505226
|
0.00001
|
NM_001232.4(CASQ2):c.311A>C (p.Lys104Thr)
|
rs781062859
|
0.00001
|
NM_001232.4(CASQ2):c.738-3C>A
|
rs876657750
|
0.00001
|
NM_001243133.2(NLRP3):c.2089C>T (p.Arg697Ter)
|
rs1191108022
|
0.00001
|
NM_001256317.3(TMPRSS3):c.1000G>A (p.Asp334Asn)
|
rs776873836
|
0.00001
|
NM_001256317.3(TMPRSS3):c.1054G>A (p.Ala352Thr)
|
rs188750127
|
0.00001
|
NM_001256317.3(TMPRSS3):c.1197C>G (p.Asp399Glu)
|
rs397517371
|
0.00001
|
NM_001256317.3(TMPRSS3):c.1344+3G>A
|
rs751001285
|
0.00001
|
NM_001256317.3(TMPRSS3):c.298G>C (p.Asp100His)
|
rs397517374
|
0.00001
|
NM_001256317.3(TMPRSS3):c.446+4A>T
|
rs376253981
|
0.00001
|
NM_001256317.3(TMPRSS3):c.677C>T (p.Ser226Leu)
|
rs763150678
|
0.00001
|
NM_001256317.3(TMPRSS3):c.731G>T (p.Gly244Val)
|
rs397517377
|
0.00001
|
NM_001256317.3(TMPRSS3):c.783-13C>A
|
rs140443203
|
0.00001
|
NM_001267550.2(TTN):c.100562G>A (p.Gly33521Asp)
|
rs370516977
|
0.00001
|
NM_001267550.2(TTN):c.101557A>G (p.Lys33853Glu)
|
rs727505163
|
0.00001
|
NM_001267550.2(TTN):c.101908G>A (p.Asp33970Asn)
|
rs749832500
|
0.00001
|
NM_001267550.2(TTN):c.102011T>A (p.Leu34004Gln)
|
rs727504897
|
0.00001
|
NM_001267550.2(TTN):c.102394T>C (p.Ser34132Pro)
|
rs876658098
|
0.00001
|
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser)
|
rs375332499
|
0.00001
|
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg)
|
rs727505009
|
0.00001
|
NM_001267550.2(TTN):c.104192A>G (p.Tyr34731Cys)
|
rs397517789
|
0.00001
|
NM_001267550.2(TTN):c.105064G>A (p.Glu35022Lys)
|
rs727504977
|
0.00001
|
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val)
|
rs779464128
|
0.00001
|
NM_001267550.2(TTN):c.105601G>A (p.Val35201Met)
|
rs397517797
|
0.00001
|
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp)
|
rs752729073
|
0.00001
|
NM_001267550.2(TTN):c.107897G>A (p.Gly35966Asp)
|
rs727505008
|
0.00001
|
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)
|
rs397517825
|
0.00001
|
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys)
|
rs377114166
|
0.00001
|
NM_001267550.2(TTN):c.12361G>C (p.Asp4121His)
|
rs370209978
|
0.00001
|
NM_001267550.2(TTN):c.1429A>T (p.Thr477Ser)
|
rs727503705
|
0.00001
|
NM_001267550.2(TTN):c.15063A>C (p.Glu5021Asp)
|
rs727503651
|
0.00001
|
NM_001267550.2(TTN):c.16574G>C (p.Ser5525Thr)
|
rs727503649
|
0.00001
|
NM_001267550.2(TTN):c.16577A>G (p.Asn5526Ser)
|
rs767376352
|
0.00001
|
NM_001267550.2(TTN):c.16839A>C (p.Glu5613Asp)
|
rs397517483
|
0.00001
|
NM_001267550.2(TTN):c.16895T>C (p.Ile5632Thr)
|
rs727504971
|
0.00001
|
NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile)
|
rs727505221
|
0.00001
|
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr)
|
rs775293848
|
0.00001
|
NM_001267550.2(TTN):c.17C>T (p.Pro6Leu)
|
rs201490999
|
0.00001
|
NM_001267550.2(TTN):c.18832G>A (p.Gly6278Ser)
|
rs397517488
|
0.00001
|
NM_001267550.2(TTN):c.19315G>A (p.Val6439Met)
|
rs727505289
|
0.00001
|
NM_001267550.2(TTN):c.202C>T (p.Pro68Ser)
|
rs876658046
|
0.00001
|
NM_001267550.2(TTN):c.20742T>A (p.Phe6914Leu)
|
rs397517495
|
0.00001
|
NM_001267550.2(TTN):c.21157A>C (p.Thr7053Pro)
|
rs727504741
|
0.00001
|
NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val)
|
rs374625641
|
0.00001
|
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile)
|
rs876658043
|
0.00001
|
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg)
|
rs876658047
|
0.00001
|
NM_001267550.2(TTN):c.22241-14A>G
|
rs371352901
|
0.00001
|
NM_001267550.2(TTN):c.22798G>T (p.Ala7600Ser)
|
rs757523256
|
0.00001
|
NM_001267550.2(TTN):c.22817-15T>G
|
rs727504821
|
0.00001
|
NM_001267550.2(TTN):c.230G>A (p.Arg77Gln)
|
rs727503709
|
0.00001
|
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met)
|
rs144032104
|
0.00001
|
NM_001267550.2(TTN):c.23939-13C>A
|
rs876658045
|
0.00001
|
NM_001267550.2(TTN):c.24520G>A (p.Val8174Met)
|
rs727504961
|
0.00001
|
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys)
|
rs377762626
|
0.00001
|
NM_001267550.2(TTN):c.26200+5G>A
|
rs727503645
|
0.00001
|
NM_001267550.2(TTN):c.26639T>G (p.Phe8880Cys)
|
rs397517518
|
0.00001
|
NM_001267550.2(TTN):c.26762-9A>G
|
rs200821070
|
0.00001
|
NM_001267550.2(TTN):c.27217G>C (p.Val9073Leu)
|
rs756400799
|
0.00001
|
NM_001267550.2(TTN):c.27328+5G>A
|
rs397517521
|
0.00001
|
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn)
|
rs397517523
|
0.00001
|
NM_001267550.2(TTN):c.27886+5T>C
|
rs876658050
|
0.00001
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
NM_001267550.2(TTN):c.28321G>A (p.Gly9441Arg)
|
rs397517529
|
0.00001
|
NM_001267550.2(TTN):c.28709A>G (p.Asn9570Ser)
|
rs727503641
|
0.00001
|
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp)
|
rs397517530
|
0.00001
|
NM_001267550.2(TTN):c.30055T>G (p.Ser10019Ala)
|
rs754368714
|
0.00001
|
NM_001267550.2(TTN):c.3031G>A (p.Gly1011Arg)
|
rs397517546
|
0.00001
|
NM_001267550.2(TTN):c.30434-15G>A
|
rs373562293
|
0.00001
|
NM_001267550.2(TTN):c.3070G>A (p.Val1024Ile)
|
rs368770038
|
0.00001
|
NM_001267550.2(TTN):c.30725C>T (p.Ala10242Val)
|
rs397517534
|
0.00001
|
NM_001267550.2(TTN):c.30893C>T (p.Ala10298Val)
|
rs727504902
|
0.00001
|
NM_001267550.2(TTN):c.31426+1G>C
|
rs6749719
|
0.00001
|
NM_001267550.2(TTN):c.31832C>G (p.Ala10611Gly)
|
rs727503637
|
0.00001
|
NM_001267550.2(TTN):c.33248-8C>G
|
rs766957102
|
0.00001
|
NM_001267550.2(TTN):c.33445C>T (p.Pro11149Ser)
|
rs377760800
|
0.00001
|
NM_001267550.2(TTN):c.33911-7T>C
|
rs397517545
|
0.00001
|
NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn)
|
rs368967197
|
0.00001
|
NM_001267550.2(TTN):c.34843C>T (p.Pro11615Ser)
|
rs727504775
|
0.00001
|
NM_001267550.2(TTN):c.35314G>A (p.Glu11772Lys)
|
rs727505263
|
0.00001
|
NM_001267550.2(TTN):c.39163A>G (p.Lys13055Glu)
|
rs397517555
|
0.00001
|
NM_001267550.2(TTN):c.39472G>A (p.Val13158Met)
|
rs876658056
|
0.00001
|
NM_001267550.2(TTN):c.4042A>G (p.Ser1348Gly)
|
rs397517591
|
0.00001
|
NM_001267550.2(TTN):c.40877-7A>G
|
rs727505201
|
0.00001
|
NM_001267550.2(TTN):c.41342G>A (p.Arg13781His)
|
rs370878642
|
0.00001
|
NM_001267550.2(TTN):c.4147C>G (p.Pro1383Ala)
|
rs377658313
|
0.00001
|
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His)
|
rs374683153
|
0.00001
|
NM_001267550.2(TTN):c.42421A>G (p.Arg14141Gly)
|
rs397517567
|
0.00001
|
NM_001267550.2(TTN):c.42649G>A (p.Glu14217Lys)
|
rs727503629
|
0.00001
|
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe)
|
rs397517568
|
0.00001
|
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr)
|
rs397517572
|
0.00001
|
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln)
|
rs727505019
|
0.00001
|
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
|
rs727505350
|
0.00001
|
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys)
|
rs397517582
|
0.00001
|
NM_001267550.2(TTN):c.46160T>C (p.Ile15387Thr)
|
rs397517585
|
0.00001
|
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys)
|
rs753664074
|
0.00001
|
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu)
|
rs727503623
|
0.00001
|
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys)
|
rs185789611
|
0.00001
|
NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys)
|
rs772152172
|
0.00001
|
NM_001267550.2(TTN):c.49189G>A (p.Val16397Met)
|
rs397517595
|
0.00001
|
NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys)
|
rs764682084
|
0.00001
|
NM_001267550.2(TTN):c.49379C>G (p.Ser16460Cys)
|
rs397517596
|
0.00001
|
NM_001267550.2(TTN):c.50355A>G (p.Arg16785=)
|
rs192143556
|
0.00001
|
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
|
rs397517599
|
0.00001
|
NM_001267550.2(TTN):c.50614G>C (p.Ala16872Pro)
|
rs727503619
|
0.00001
|
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala)
|
rs201302681
|
0.00001
|
NM_001267550.2(TTN):c.51439C>A (p.Pro17147Thr)
|
rs876658065
|
0.00001
|
NM_001267550.2(TTN):c.51565A>G (p.Lys17189Glu)
|
rs727503618
|
0.00001
|
NM_001267550.2(TTN):c.52061A>T (p.Asp17354Val)
|
rs397517606
|
0.00001
|
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)
|
rs397517607
|
0.00001
|
NM_001267550.2(TTN):c.52181T>C (p.Leu17394Pro)
|
rs727503616
|
0.00001
|
NM_001267550.2(TTN):c.52223A>C (p.Lys17408Thr)
|
rs876658066
|
0.00001
|
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)
|
rs397517609
|
0.00001
|
NM_001267550.2(TTN):c.52330C>T (p.Arg17444Cys)
|
rs778094750
|
0.00001
|
NM_001267550.2(TTN):c.52414G>A (p.Asp17472Asn)
|
rs727503614
|
0.00001
|
NM_001267550.2(TTN):c.52667G>A (p.Ser17556Asn)
|
rs750715335
|
0.00001
|
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys)
|
rs369001587
|
0.00001
|
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
|
rs397517612
|
0.00001
|
NM_001267550.2(TTN):c.53390C>T (p.Thr17797Ile)
|
rs727503610
|
0.00001
|
NM_001267550.2(TTN):c.5354C>G (p.Thr1785Arg)
|
rs397517649
|
0.00001
|
NM_001267550.2(TTN):c.53582-6C>G
|
rs727503608
|
0.00001
|
NM_001267550.2(TTN):c.53717A>G (p.Lys17906Arg)
|
rs727503606
|
0.00001
|
NM_001267550.2(TTN):c.53915G>A (p.Arg17972Gln)
|
rs377169251
|
0.00001
|
NM_001267550.2(TTN):c.54188A>G (p.Tyr18063Cys)
|
rs397517617
|
0.00001
|
NM_001267550.2(TTN):c.5418G>T (p.Leu1806Phe)
|
rs397517650
|
0.00001
|
NM_001267550.2(TTN):c.54874G>C (p.Gly18292Arg)
|
rs377512675
|
0.00001
|
NM_001267550.2(TTN):c.55270-3T>C
|
rs749109513
|
0.00001
|
NM_001267550.2(TTN):c.55340C>T (p.Pro18447Leu)
|
rs397517622
|
0.00001
|
NM_001267550.2(TTN):c.55598G>A (p.Cys18533Tyr)
|
rs727503599
|
0.00001
|
NM_001267550.2(TTN):c.55805C>A (p.Pro18602His)
|
rs559554374
|
0.00001
|
NM_001267550.2(TTN):c.55880A>C (p.Lys18627Thr)
|
rs727503597
|
0.00001
|
NM_001267550.2(TTN):c.56747T>A (p.Val18916Glu)
|
rs1296926879
|
0.00001
|
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val)
|
rs876658068
|
0.00001
|
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe)
|
rs727505347
|
0.00001
|
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala)
|
rs587782985
|
0.00001
|
NM_001267550.2(TTN):c.57415A>C (p.Ile19139Leu)
|
rs397517629
|
0.00001
|
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His)
|
rs371422299
|
0.00001
|
NM_001267550.2(TTN):c.583+5G>A
|
rs397517663
|
0.00001
|
NM_001267550.2(TTN):c.58705G>A (p.Asp19569Asn)
|
rs397517638
|
0.00001
|
NM_001267550.2(TTN):c.58711A>G (p.Met19571Val)
|
rs770228515
|
0.00001
|
NM_001267550.2(TTN):c.58774A>G (p.Thr19592Ala)
|
rs769094173
|
0.00001
|
NM_001267550.2(TTN):c.59360T>A (p.Ile19787Asn)
|
rs768765076
|
0.00001
|
NM_001267550.2(TTN):c.59618T>C (p.Leu19873Pro)
|
rs727503589
|
0.00001
|
NM_001267550.2(TTN):c.60023C>T (p.Pro20008Leu)
|
rs199839492
|
0.00001
|
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu)
|
rs771358314
|
0.00001
|
NM_001267550.2(TTN):c.60876G>C (p.Trp20292Cys)
|
rs397517647
|
0.00001
|
NM_001267550.2(TTN):c.61149G>C (p.Lys20383Asn)
|
rs727504968
|
0.00001
|
NM_001267550.2(TTN):c.61163C>G (p.Ala20388Gly)
|
rs397517648
|
0.00001
|
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser)
|
rs756873840
|
0.00001
|
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys)
|
rs562680371
|
0.00001
|
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala)
|
rs538308579
|
0.00001
|
NM_001267550.2(TTN):c.63035C>T (p.Pro21012Leu)
|
rs1476856667
|
0.00001
|
NM_001267550.2(TTN):c.6380A>G (p.Tyr2127Cys)
|
rs397517688
|
0.00001
|
NM_001267550.2(TTN):c.64147G>A (p.Ala21383Thr)
|
rs727503582
|
0.00001
|
NM_001267550.2(TTN):c.64184G>C (p.Gly21395Ala)
|
rs769161359
|
0.00001
|
NM_001267550.2(TTN):c.64682G>T (p.Gly21561Val)
|
rs111829923
|
0.00001
|
NM_001267550.2(TTN):c.64826C>T (p.Thr21609Met)
|
rs765913263
|
0.00001
|
NM_001267550.2(TTN):c.65179G>A (p.Gly21727Ser)
|
rs756099303
|
0.00001
|
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr)
|
rs727503580
|
0.00001
|
NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu)
|
rs777364605
|
0.00001
|
NM_001267550.2(TTN):c.66610G>A (p.Val22204Met)
|
rs376238023
|
0.00001
|
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)
|
rs144295295
|
0.00001
|
NM_001267550.2(TTN):c.68282C>T (p.Ser22761Phe)
|
rs397517676
|
0.00001
|
NM_001267550.2(TTN):c.68335C>A (p.His22779Asn)
|
rs727504702
|
0.00001
|
NM_001267550.2(TTN):c.6844T>C (p.Tyr2282His)
|
rs727503691
|
0.00001
|
NM_001267550.2(TTN):c.69325G>A (p.Glu23109Lys)
|
rs727503571
|
0.00001
|
NM_001267550.2(TTN):c.6941T>C (p.Ile2314Thr)
|
rs397517708
|
0.00001
|
NM_001267550.2(TTN):c.70045G>A (p.Glu23349Lys)
|
rs397517682
|
0.00001
|
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)
|
rs397517683
|
0.00001
|
NM_001267550.2(TTN):c.70530G>A (p.Met23510Ile)
|
rs727503569
|
0.00001
|
NM_001267550.2(TTN):c.70843G>A (p.Ala23615Thr)
|
rs574614034
|
0.00001
|
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)
|
rs397517690
|
0.00001
|
NM_001267550.2(TTN):c.71909G>A (p.Arg23970Gln)
|
rs727503563
|
0.00001
|
NM_001267550.2(TTN):c.72994G>T (p.Val24332Phe)
|
rs876658081
|
0.00001
|
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu)
|
rs376041680
|
0.00001
|
NM_001267550.2(TTN):c.73390C>T (p.Arg24464Trp)
|
rs369098292
|
0.00001
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
NM_001267550.2(TTN):c.74968G>A (p.Gly24990Ser)
|
rs727503561
|
0.00001
|
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu)
|
rs531281558
|
0.00001
|
NM_001267550.2(TTN):c.75155G>A (p.Arg25052His)
|
rs542720402
|
0.00001
|
NM_001267550.2(TTN):c.75364G>A (p.Val25122Met)
|
rs376821762
|
0.00001
|
NM_001267550.2(TTN):c.7556T>C (p.Val2519Ala)
|
rs372361514
|
0.00001
|
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)
|
rs374494927
|
0.00001
|
NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr)
|
rs372963832
|
0.00001
|
NM_001267550.2(TTN):c.78577A>C (p.Ile26193Leu)
|
rs727505241
|
0.00001
|
NM_001267550.2(TTN):c.79127C>A (p.Ala26376Glu)
|
rs397517714
|
0.00001
|
NM_001267550.2(TTN):c.79145A>C (p.Asn26382Thr)
|
rs727505049
|
0.00001
|
NM_001267550.2(TTN):c.79225C>T (p.Arg26409Cys)
|
rs748258568
|
0.00001
|
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln)
|
rs727504673
|
0.00001
|
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln)
|
rs898433512
|
0.00001
|
NM_001267550.2(TTN):c.80608C>A (p.Pro26870Thr)
|
rs397517718
|
0.00001
|
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg)
|
rs727504678
|
0.00001
|
NM_001267550.2(TTN):c.82021C>T (p.Arg27341Trp)
|
rs746488250
|
0.00001
|
NM_001267550.2(TTN):c.82616C>G (p.Ser27539Cys)
|
rs727503556
|
0.00001
|
NM_001267550.2(TTN):c.82859G>T (p.Cys27620Phe)
|
rs762472521
|
0.00001
|
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)
|
rs727504723
|
0.00001
|
NM_001267550.2(TTN):c.83543T>C (p.Ile27848Thr)
|
rs397517723
|
0.00001
|
NM_001267550.2(TTN):c.83560A>G (p.Thr27854Ala)
|
rs876658086
|
0.00001
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
NM_001267550.2(TTN):c.84494A>G (p.His28165Arg)
|
rs876658088
|
0.00001
|
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)
|
rs397517730
|
0.00001
|
NM_001267550.2(TTN):c.84962A>G (p.Gln28321Arg)
|
rs760149145
|
0.00001
|
NM_001267550.2(TTN):c.85130T>C (p.Ile28377Thr)
|
rs876658089
|
0.00001
|
NM_001267550.2(TTN):c.85195G>A (p.Glu28399Lys)
|
rs397517732
|
0.00001
|
NM_001267550.2(TTN):c.85351C>T (p.Pro28451Ser)
|
rs727503554
|
0.00001
|
NM_001267550.2(TTN):c.85649T>A (p.Val28550Asp)
|
rs727505194
|
0.00001
|
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)
|
rs397517733
|
0.00001
|
NM_001267550.2(TTN):c.8609A>T (p.Gln2870Leu)
|
rs372008728
|
0.00001
|
NM_001267550.2(TTN):c.86393G>A (p.Arg28798Lys)
|
rs781458689
|
0.00001
|
NM_001267550.2(TTN):c.86435T>C (p.Ile28812Thr)
|
rs727504959
|
0.00001
|
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu)
|
rs876658090
|
0.00001
|
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys)
|
rs727505102
|
0.00001
|
NM_001267550.2(TTN):c.88688G>A (p.Gly29563Asp)
|
rs1335432771
|
0.00001
|
NM_001267550.2(TTN):c.89111A>G (p.Tyr29704Cys)
|
rs727504503
|
0.00001
|
NM_001267550.2(TTN):c.89252T>C (p.Ile29751Thr)
|
rs397517742
|
0.00001
|
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)
|
rs369279892
|
0.00001
|
NM_001267550.2(TTN):c.89628T>G (p.Asp29876Glu)
|
rs397517743
|
0.00001
|
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys)
|
rs397517747
|
0.00001
|
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)
|
rs553668520
|
0.00001
|
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)
|
rs727504501
|
0.00001
|
NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val)
|
rs535151633
|
0.00001
|
NM_001267550.2(TTN):c.92383G>A (p.Val30795Ile)
|
rs369025866
|
0.00001
|
NM_001267550.2(TTN):c.92455G>A (p.Val30819Ile)
|
rs368511235
|
0.00001
|
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)
|
rs531432790
|
0.00001
|
NM_001267550.2(TTN):c.93322A>G (p.Ile31108Val)
|
rs727504787
|
0.00001
|
NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys)
|
rs727503549
|
0.00001
|
NM_001267550.2(TTN):c.9449G>A (p.Arg3150Gln)
|
rs141093658
|
0.00001
|
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala)
|
rs369870689
|
0.00001
|
NM_001267550.2(TTN):c.94748G>A (p.Arg31583His)
|
rs727503544
|
0.00001
|
NM_001267550.2(TTN):c.95281G>A (p.Glu31761Lys)
|
rs727505342
|
0.00001
|
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg)
|
rs794729539
|
0.00001
|
NM_001267550.2(TTN):c.95567G>A (p.Arg31856His)
|
rs876658093
|
0.00001
|
NM_001267550.2(TTN):c.95669G>T (p.Gly31890Val)
|
rs763832653
|
0.00001
|
NM_001267550.2(TTN):c.95923C>T (p.Leu31975Phe)
|
rs757718784
|
0.00001
|
NM_001267550.2(TTN):c.96535G>A (p.Val32179Met)
|
rs727505082
|
0.00001
|
NM_001267550.2(TTN):c.96931A>G (p.Met32311Val)
|
rs727504981
|
0.00001
|
NM_001267550.2(TTN):c.97051G>A (p.Glu32351Lys)
|
rs727504879
|
0.00001
|
NM_001267550.2(TTN):c.97285G>A (p.Gly32429Ser)
|
rs397517768
|
0.00001
|
NM_001267550.2(TTN):c.97319G>A (p.Arg32440His)
|
rs750047570
|
0.00001
|
NM_001267550.2(TTN):c.97348G>A (p.Val32450Ile)
|
rs397517769
|
0.00001
|
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)
|
rs397517771
|
0.00001
|
NM_001267550.2(TTN):c.98095C>T (p.Leu32699Phe)
|
rs397517774
|
0.00001
|
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln)
|
rs201696360
|
0.00001
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
NM_001267550.2(TTN):c.98684-10A>G
|
rs727505072
|
0.00001
|
NM_001267550.2(TTN):c.98867T>C (p.Met32956Thr)
|
rs727504962
|
0.00001
|
NM_001267550.2(TTN):c.99466C>T (p.His33156Tyr)
|
rs374666520
|
0.00001
|
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro)
|
rs397516447
|
0.00001
|
NM_001276345.2(TNNT2):c.233+6T>C
|
rs397516449
|
0.00001
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
NM_001276345.2(TNNT2):c.39G>A (p.Glu13=)
|
rs727503516
|
0.00001
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter)
|
rs397516469
|
0.00001
|
NM_001276345.2(TNNT2):c.52+6C>T
|
rs397516472
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)
|
rs397516482
|
0.00001
|
NM_001276345.2(TNNT2):c.815A>G (p.Asn272Ser)
|
rs397516483
|
0.00001
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
NM_001277115.2(DNAH11):c.10441G>A (p.Glu3481Lys)
|
rs727502969
|
0.00001
|
NM_001277115.2(DNAH11):c.3853-12T>A
|
rs727502966
|
0.00001
|
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys)
|
rs727502967
|
0.00001
|
NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp)
|
rs1260548574
|
0.00001
|
NM_001292063.2(OTOG):c.2885C>T (p.Ser962Leu)
|
rs750521452
|
0.00001
|
NM_001292063.2(OTOG):c.2911G>A (p.Ala971Thr)
|
rs897016393
|
0.00001
|
NM_001292063.2(OTOG):c.4147C>T (p.Arg1383Cys)
|
rs566689671
|
0.00001
|
NM_001292063.2(OTOG):c.422G>A (p.Arg141Gln)
|
rs1260721968
|
0.00001
|
NM_001292063.2(OTOG):c.494C>A (p.Thr165Asn)
|
rs1396310498
|
0.00001
|
NM_001292063.2(OTOG):c.4991A>T (p.His1664Leu)
|
rs1427538566
|
0.00001
|
NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys)
|
rs1311003002
|
0.00001
|
NM_001292063.2(OTOG):c.6997G>A (p.Val2333Met)
|
rs188832359
|
0.00001
|
NM_001292063.2(OTOG):c.7423G>C (p.Gly2475Arg)
|
rs771765463
|
0.00001
|
NM_001292063.2(OTOG):c.8038G>A (p.Glu2680Lys)
|
rs758935605
|
0.00001
|
NM_001292063.2(OTOG):c.8326C>T (p.Arg2776Cys)
|
rs948010343
|
0.00001
|
NM_001318895.3(FHL2):c.156+2T>C
|
rs727503059
|
0.00001
|
NM_001318895.3(FHL2):c.724C>T (p.Arg242Trp)
|
rs397517961
|
0.00001
|
NM_001330.5(CTF1):c.25+6G>C
|
rs397516647
|
0.00001
|
NM_001330.5(CTF1):c.26-12C>G
|
rs727502948
|
0.00001
|
NM_001330.5(CTF1):c.546C>T (p.Arg182=)
|
rs397516651
|
0.00001
|
NM_001330691.3(CEP78):c.1797+5A>G
|
rs750594582
|
0.00001
|
NM_001354604.2(MITF):c.1108C>G (p.Arg370Gly)
|
rs372113245
|
0.00001
|
NM_001354604.2(MITF):c.355-8A>G
|
rs876657867
|
0.00001
|
NM_001354604.2(MITF):c.590A>G (p.Tyr197Cys)
|
rs763827931
|
0.00001
|
NM_001365276.2(TNXB):c.4996C>T (p.Arg1666Ter)
|
rs746016355
|
0.00001
|
NM_001369.3(DNAH5):c.11869G>A (p.Asp3957Asn)
|
rs749548708
|
0.00001
|
NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His)
|
rs876657782
|
0.00001
|
NM_001369.3(DNAH5):c.6579+3A>G
|
rs727502976
|
0.00001
|
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)
|
rs756216163
|
0.00001
|
NM_001371333.1(DIABLO):c.349T>C (p.Tyr117His)
|
rs764412748
|
0.00001
|
NM_001378454.1(ALMS1):c.10058C>G (p.Pro3353Arg)
|
rs760647310
|
0.00001
|
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys)
|
rs45484791
|
0.00001
|
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr)
|
rs369339997
|
0.00001
|
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg)
|
rs369339997
|
0.00001
|
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu)
|
rs1481573722
|
0.00001
|
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser)
|
rs866357733
|
0.00001
|
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu)
|
rs372886271
|
0.00001
|
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro)
|
rs759591871
|
0.00001
|
NM_001378609.3(OTOGL):c.1102G>A (p.Ala368Thr)
|
rs767747155
|
0.00001
|
NM_001378609.3(OTOGL):c.1396G>T (p.Val466Leu)
|
rs760941023
|
0.00001
|
NM_001378609.3(OTOGL):c.242G>A (p.Cys81Tyr)
|
rs775349315
|
0.00001
|
NM_001378609.3(OTOGL):c.2506A>G (p.Thr836Ala)
|
rs876657946
|
0.00001
|
NM_001378609.3(OTOGL):c.2849T>C (p.Ile950Thr)
|
rs749226050
|
0.00001
|
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His)
|
rs867315415
|
0.00001
|
NM_001378609.3(OTOGL):c.3376C>A (p.Gln1126Lys)
|
rs876657947
|
0.00001
|
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr)
|
rs770438244
|
0.00001
|
NM_001378609.3(OTOGL):c.454G>T (p.Asp152Tyr)
|
rs1399912212
|
0.00001
|
NM_001378609.3(OTOGL):c.5758G>T (p.Val1920Phe)
|
rs768024118
|
0.00001
|
NM_001378609.3(OTOGL):c.647T>C (p.Ile216Thr)
|
rs751591512
|
0.00001
|
NM_001378609.3(OTOGL):c.816A>G (p.Gln272=)
|
rs772509606
|
0.00001
|
NM_001378609.3(OTOGL):c.937G>C (p.Ala313Pro)
|
rs753400665
|
0.00001
|
NM_001379180.1(ESRRB):c.*1550C>A
|
rs772147649
|
0.00001
|
NM_001379180.1(ESRRB):c.538C>T (p.Arg180Cys)
|
rs576940797
|
0.00001
|
NM_001382.4(DPAGT1):c.643+2T>C
|
rs774754436
|
0.00001
|
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu)
|
rs397517449
|
0.00001
|
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile)
|
rs727505253
|
0.00001
|
NM_001384140.1(PCDH15):c.2354A>G (p.Tyr785Cys)
|
rs753912234
|
0.00001
|
NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu)
|
rs397517453
|
0.00001
|
NM_001384140.1(PCDH15):c.3122+3A>G
|
rs373365331
|
0.00001
|
NM_001384140.1(PCDH15):c.3719T>A (p.Val1240Asp)
|
rs397517458
|
0.00001
|
NM_001384140.1(PCDH15):c.4672-1689G>A
|
rs185457086
|
0.00001
|
NM_001384474.1(LOXHD1):c.*4G>A
|
rs876657856
|
0.00001
|
NM_001384474.1(LOXHD1):c.1061T>A (p.Leu354His)
|
rs727503150
|
0.00001
|
NM_001384474.1(LOXHD1):c.1469G>A (p.Arg490Gln)
|
rs397517860
|
0.00001
|
NM_001384474.1(LOXHD1):c.1912G>A (p.Val638Met)
|
rs876657854
|
0.00001
|
NM_001384474.1(LOXHD1):c.2035G>A (p.Ala679Thr)
|
rs779377762
|
0.00001
|
NM_001384474.1(LOXHD1):c.2332G>A (p.Gly778Ser)
|
rs876657860
|
0.00001
|
NM_001384474.1(LOXHD1):c.2677G>A (p.Val893Met)
|
rs769899814
|
0.00001
|
NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu)
|
rs534815867
|
0.00001
|
NM_001384474.1(LOXHD1):c.3412G>A (p.Glu1138Lys)
|
rs1230147513
|
0.00001
|
NM_001384474.1(LOXHD1):c.3428A>T (p.Asp1143Val)
|
rs727503143
|
0.00001
|
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu)
|
rs397517862
|
0.00001
|
NM_001384474.1(LOXHD1):c.37A>G (p.Ile13Val)
|
rs1384593055
|
0.00001
|
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile)
|
rs866017859
|
0.00001
|
NM_001384474.1(LOXHD1):c.4281T>G (p.Ile1427Met)
|
rs727503140
|
0.00001
|
NM_001384474.1(LOXHD1):c.4349A>G (p.Tyr1450Cys)
|
rs1416571809
|
0.00001
|
NM_001384474.1(LOXHD1):c.458G>A (p.Arg153His)
|
rs778691392
|
0.00001
|
NM_001384474.1(LOXHD1):c.5089G>A (p.Gly1697Ser)
|
rs876657853
|
0.00001
|
NM_001384474.1(LOXHD1):c.5273T>A (p.Val1758Asp)
|
rs727503139
|
0.00001
|
NM_001384474.1(LOXHD1):c.5314G>A (p.Gly1772Arg)
|
rs775186197
|
0.00001
|
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg)
|
rs780560784
|
0.00001
|
NM_001384474.1(LOXHD1):c.6340G>A (p.Val2114Met)
|
rs1336623338
|
0.00001
|
NM_001384474.1(LOXHD1):c.6572A>G (p.Lys2191Arg)
|
rs1410560877
|
0.00001
|
NM_001384474.1(LOXHD1):c.6595G>A (p.Glu2199Lys)
|
rs376559755
|
0.00001
|
NM_001384474.1(LOXHD1):c.663C>G (p.Asp221Glu)
|
rs1304841781
|
0.00001
|
NM_001386795.1(DTNA):c.17G>C (p.Gly6Ala)
|
rs397517446
|
0.00001
|
NM_001386795.1(DTNA):c.435G>A (p.Met145Ile)
|
rs751953774
|
0.00001
|
NM_001393500.2(TOMT):c.630C>G (p.Asp210Glu)
|
rs876657863
|
0.00001
|
NM_001393500.2(TOMT):c.97C>G (p.Leu33Val)
|
rs876657864
|
0.00001
|
NM_001563.4(IMPG1):c.1795C>T (p.Arg599Ter)
|
rs1335348760
|
0.00001
|
NM_001692.4(ATP6V1B1):c.305G>A (p.Arg102Lys)
|
rs202011016
|
0.00001
|
NM_001844.5(COL2A1):c.3205G>C (p.Ala1069Pro)
|
rs200112269
|
0.00001
|
NM_001927.4(DES):c.369del (p.Ile123fs)
|
rs747289875
|
0.00001
|
NM_001927.4(DES):c.79G>A (p.Gly27Ser)
|
rs727504877
|
0.00001
|
NM_001927.4(DES):c.853G>A (p.Ala285Thr)
|
rs876657771
|
0.00001
|
NM_001927.4(DES):c.974G>A (p.Arg325Gln)
|
rs766035912
|
0.00001
|
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)
|
rs727505208
|
0.00001
|
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn)
|
rs753406968
|
0.00001
|
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys)
|
rs200484060
|
0.00001
|
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr)
|
rs549421694
|
0.00001
|
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)
|
rs727502989
|
0.00001
|
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe)
|
rs371498622
|
0.00001
|
NM_001943.5(DSG2):c.308T>C (p.Val103Ala)
|
rs876657790
|
0.00001
|
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)
|
rs373542380
|
0.00001
|
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)
|
rs374875442
|
0.00001
|
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)
|
rs752432726
|
0.00001
|
NM_001987.5(ETV6):c.1037A>G (p.Tyr346Cys)
|
rs1591749369
|
0.00001
|
NM_002109.6(HARS1):c.1177G>A (p.Val393Met)
|
rs192923161
|
0.00001
|
NM_002230.4(JUP):c.1213G>A (p.Val405Ile)
|
rs200019016
|
0.00001
|
NM_002230.4(JUP):c.1696G>A (p.Ala566Thr)
|
rs727504695
|
0.00001
|
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)
|
rs782205755
|
0.00001
|
NM_002230.4(JUP):c.708-7C>T
|
rs397517301
|
0.00001
|
NM_002294.3(LAMP2):c.1093+2449C>T
|
rs765143363
|
0.00001
|
NM_002294.3(LAMP2):c.1211A>T (p.His404Leu)
|
rs727504957
|
0.00001
|
NM_002294.3(LAMP2):c.214G>A (p.Val72Met)
|
rs778193991
|
0.00001
|
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys)
|
rs778886029
|
0.00001
|
NM_002471.4(MYH6):c.253G>A (p.Asp85Asn)
|
rs397516758
|
0.00001
|
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met)
|
rs727503238
|
0.00001
|
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn)
|
rs375169402
|
0.00001
|
NM_002471.4(MYH6):c.328G>A (p.Ala110Thr)
|
rs397516760
|
0.00001
|
NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met)
|
rs201051663
|
0.00001
|
NM_002471.4(MYH6):c.3784C>T (p.Arg1262Cys)
|
rs397516763
|
0.00001
|
NM_002471.4(MYH6):c.4165G>A (p.Glu1389Lys)
|
rs397516768
|
0.00001
|
NM_002471.4(MYH6):c.4176-6G>T
|
rs760780588
|
0.00001
|
NM_002471.4(MYH6):c.4300G>A (p.Val1434Ile)
|
rs397516769
|
0.00001
|
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His)
|
rs142556730
|
0.00001
|
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)
|
rs727504502
|
0.00001
|
NM_002471.4(MYH6):c.5089A>G (p.Thr1697Ala)
|
rs727503233
|
0.00001
|
NM_002471.4(MYH6):c.568C>T (p.Arg190Cys)
|
rs397516777
|
0.00001
|
NM_002473.6(MYH9):c.2077C>T (p.Arg693Cys)
|
rs751852988
|
0.00001
|
NM_002473.6(MYH9):c.2789G>A (p.Arg930His)
|
rs727504740
|
0.00001
|
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu)
|
rs368797590
|
0.00001
|
NM_002473.6(MYH9):c.3903G>C (p.Lys1301Asn)
|
rs767235227
|
0.00001
|
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr)
|
rs373912645
|
0.00001
|
NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln)
|
rs727503285
|
0.00001
|
NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met)
|
rs727504669
|
0.00001
|
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His)
|
rs777701033
|
0.00001
|
NM_002473.6(MYH9):c.519-6T>G
|
rs867195616
|
0.00001
|
NM_002473.6(MYH9):c.968T>C (p.Met323Thr)
|
rs1364094810
|
0.00001
|
NM_002667.5(PLN):c.61C>A (p.Pro21Thr)
|
rs397516786
|
0.00001
|
NM_002691.4(POLD1):c.1573C>T (p.Arg525Trp)
|
rs201804732
|
0.00001
|
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu)
|
rs144707871
|
0.00001
|
NM_002691.4(POLD1):c.868G>A (p.Val290Met)
|
rs748657880
|
0.00001
|
NM_002755.4(MAP2K1):c.1039G>A (p.Ala347Thr)
|
rs746354996
|
0.00001
|
NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg)
|
rs774932586
|
0.00001
|
NM_002755.4(MAP2K1):c.263A>G (p.Lys88Arg)
|
rs762354445
|
0.00001
|
NM_002755.4(MAP2K1):c.631G>A (p.Val211Ile)
|
rs727505206
|
0.00001
|
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe)
|
rs1361965478
|
0.00001
|
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)
|
rs41299183
|
0.00001
|
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met)
|
rs397516796
|
0.00001
|
NM_002834.5(PTPN11):c.1713-5T>A
|
rs876657964
|
0.00001
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
NM_002880.4(RAF1):c.1063A>G (p.Ile355Val)
|
rs727504719
|
0.00001
|
NM_002880.4(RAF1):c.1688G>A (p.Arg563Gln)
|
rs727504827
|
0.00001
|
NM_002880.4(RAF1):c.321T>C (p.Gly107=)
|
rs201937982
|
0.00001
|
NM_002880.4(RAF1):c.536A>G (p.Lys179Arg)
|
rs1271531726
|
0.00001
|
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln)
|
rs752713997
|
0.00001
|
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter)
|
rs180760483
|
0.00001
|
NM_002906.4(RDX):c.1364A>C (p.Asp455Ala)
|
rs727505062
|
0.00001
|
NM_002906.4(RDX):c.1729A>G (p.Ile577Val)
|
rs370958814
|
0.00001
|
NM_002906.4(RDX):c.995T>C (p.Ile332Thr)
|
rs533107164
|
0.00001
|
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile)
|
rs199869408
|
0.00001
|
NM_003068.5(SNAI2):c.571G>A (p.Gly191Ser)
|
rs757418816
|
0.00001
|
NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp)
|
rs397516847
|
0.00001
|
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val)
|
rs397516848
|
0.00001
|
NM_003280.3(TNNC1):c.454+6C>G
|
rs750021293
|
0.00001
|
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln)
|
rs267607123
|
0.00001
|
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp)
|
rs397516853
|
0.00001
|
NM_003476.5(CSRP3):c.197A>G (p.Tyr66Cys)
|
rs397516854
|
0.00001
|
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)
|
rs761507504
|
0.00001
|
NM_003664.5(AP3B1):c.1814C>A (p.Pro605Gln)
|
rs374289196
|
0.00001
|
NM_003673.4(TCAP):c.473G>A (p.Arg158His)
|
rs397516864
|
0.00001
|
NM_003803.4(MYOM1):c.*10C>T
|
rs876657915
|
0.00001
|
NM_003803.4(MYOM1):c.4351C>G (p.Leu1451Val)
|
rs876657917
|
0.00001
|
NM_003803.4(MYOM1):c.4586A>G (p.Tyr1529Cys)
|
rs876657918
|
0.00001
|
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)
|
rs1326514987
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn)
|
rs199790409
|
0.00001
|
NM_004006.3(DMD):c.4175A>G (p.Gln1392Arg)
|
rs876657779
|
0.00001
|
NM_004086.3(COCH):c.263G>T (p.Gly88Val)
|
rs121908928
|
0.00001
|
NM_004086.3(COCH):c.764T>C (p.Phe255Ser)
|
rs1555311790
|
0.00001
|
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu)
|
rs1168354526
|
0.00001
|
NM_004100.5(EYA4):c.1109G>A (p.Arg370His)
|
rs143936434
|
0.00001
|
NM_004100.5(EYA4):c.1294G>C (p.Val432Leu)
|
rs145253833
|
0.00001
|
NM_004100.5(EYA4):c.512G>T (p.Gly171Val)
|
rs1157191952
|
0.00001
|
NM_004100.5(EYA4):c.723A>G (p.Pro241=)
|
rs556550485
|
0.00001
|
NM_004100.5(EYA4):c.811C>G (p.Pro271Ala)
|
rs752023028
|
0.00001
|
NM_004100.5(EYA4):c.901G>A (p.Asp301Asn)
|
rs779172192
|
0.00001
|
NM_004230.4(S1PR2):c.878G>A (p.Arg293Gln)
|
rs376403797
|
0.00001
|
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr)
|
rs876657745
|
0.00001
|
NM_004281.4(BAG3):c.1217C>T (p.Thr406Ile)
|
rs727502900
|
0.00001
|
NM_004281.4(BAG3):c.283C>G (p.Pro95Ala)
|
rs727502898
|
0.00001
|
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln)
|
rs876657746
|
0.00001
|
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp)
|
rs759573189
|
0.00001
|
NM_004329.3(BMPR1A):c.506_507insTCC (p.Ile169_Phe170insPro)
|
rs763554505
|
0.00001
|
NM_004333.6(BRAF):c.1237G>A (p.Val413Met)
|
rs377093637
|
0.00001
|
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg)
|
rs749247588
|
0.00001
|
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)
|
rs557241012
|
0.00001
|
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)
|
rs746594822
|
0.00001
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
NM_004415.4(DSP):c.2131-10T>C
|
rs369821143
|
0.00001
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
NM_004415.4(DSP):c.3200C>T (p.Ala1067Val)
|
rs1317030435
|
0.00001
|
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)
|
rs577061462
|
0.00001
|
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)
|
rs397516942
|
0.00001
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu)
|
rs794728104
|
0.00001
|
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro)
|
rs397516950
|
0.00001
|
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys)
|
rs397516951
|
0.00001
|
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)
|
rs372242085
|
0.00001
|
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile)
|
rs727504569
|
0.00001
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
NM_004415.4(DSP):c.8372G>A (p.Arg2791His)
|
rs749339594
|
0.00001
|
NM_004415.4(DSP):c.844G>A (p.Glu282Lys)
|
rs397516966
|
0.00001
|
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val)
|
rs397516970
|
0.00001
|
NM_004517.4(ILK):c.632G>A (p.Arg211His)
|
rs200288502
|
0.00001
|
NM_004700.4(KCNQ4):c.1216G>A (p.Asp406Asn)
|
rs1264123218
|
0.00001
|
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val)
|
rs145732892
|
0.00001
|
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile)
|
rs778538229
|
0.00001
|
NM_004700.4(KCNQ4):c.2006A>G (p.His669Arg)
|
rs749565877
|
0.00001
|
NM_004700.4(KCNQ4):c.386A>G (p.Asn129Ser)
|
rs761034165
|
0.00001
|
NM_004700.4(KCNQ4):c.946-3T>A
|
rs876657840
|
0.00001
|
NM_004817.4(TJP2):c.322A>T (p.Ser108Cys)
|
rs727504668
|
0.00001
|
NM_004985.5(KRAS):c.407G>A (p.Ser136Asn)
|
rs757816355
|
0.00001
|
NM_004999.4(MYO6):c.1079-5A>G
|
rs774020683
|
0.00001
|
NM_004999.4(MYO6):c.178G>C (p.Glu60Gln)
|
rs757420692
|
0.00001
|
NM_004999.4(MYO6):c.1853G>A (p.Arg618Gln)
|
rs777201018
|
0.00001
|
NM_004999.4(MYO6):c.2507G>A (p.Arg836His)
|
rs876657909
|
0.00001
|
NM_004999.4(MYO6):c.2837G>A (p.Arg946His)
|
rs781754117
|
0.00001
|
NM_004999.4(MYO6):c.3137+5G>A
|
rs397517050
|
0.00001
|
NM_004999.4(MYO6):c.647A>T (p.Glu216Val)
|
rs121912559
|
0.00001
|
NM_005159.5(ACTC1):c.229A>G (p.Ile77Val)
|
rs397517056
|
0.00001
|
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)
|
rs121912676
|
0.00001
|
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)
|
rs727505179
|
0.00001
|
NM_005188.4(CBL):c.1622A>T (p.Asp541Val)
|
rs147285276
|
0.00001
|
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly)
|
rs552590011
|
0.00001
|
NM_005188.4(CBL):c.595A>G (p.Ile199Val)
|
rs397517082
|
0.00001
|
NM_005219.5(DIAPH1):c.128G>A (p.Arg43Gln)
|
rs727502964
|
0.00001
|
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr)
|
rs727502961
|
0.00001
|
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln)
|
rs727504973
|
0.00001
|
NM_005219.5(DIAPH1):c.814C>G (p.Pro272Ala)
|
rs778493344
|
0.00001
|
NM_005228.5(EGFR):c.2170G>A (p.Gly724Ser)
|
rs1051753269
|
0.00001
|
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)
|
rs764622691
|
0.00001
|
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr)
|
rs727504496
|
0.00001
|
NM_005343.4(HRAS):c.450+84C>A
|
rs727504926
|
0.00001
|
NM_005343.4(HRAS):c.482G>A (p.Arg161His)
|
rs748729430
|
0.00001
|
NM_005422.4(TECTA):c.1129T>C (p.Trp377Arg)
|
rs876658013
|
0.00001
|
NM_005422.4(TECTA):c.1699G>A (p.Ala567Thr)
|
rs727503457
|
0.00001
|
NM_005422.4(TECTA):c.2752C>G (p.Pro918Ala)
|
rs876658016
|
0.00001
|
NM_005422.4(TECTA):c.3440A>G (p.Asn1147Ser)
|
rs1184726805
|
0.00001
|
NM_005422.4(TECTA):c.3619G>A (p.Val1207Met)
|
rs746231346
|
0.00001
|
NM_005422.4(TECTA):c.3769G>A (p.Gly1257Ser)
|
rs727504469
|
0.00001
|
NM_005422.4(TECTA):c.3857C>T (p.Pro1286Leu)
|
rs770133038
|
0.00001
|
NM_005422.4(TECTA):c.3940T>C (p.Cys1314Arg)
|
rs767018367
|
0.00001
|
NM_005422.4(TECTA):c.4067G>A (p.Gly1356Glu)
|
rs727503461
|
0.00001
|
NM_005422.4(TECTA):c.430G>A (p.Val144Ile)
|
rs973063526
|
0.00001
|
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys)
|
rs727503462
|
0.00001
|
NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys)
|
rs1428598791
|
0.00001
|
NM_005422.4(TECTA):c.586G>A (p.Gly196Ser)
|
rs751960882
|
0.00001
|
NM_005422.4(TECTA):c.6115C>T (p.His2039Tyr)
|
rs727503465
|
0.00001
|
NM_005422.4(TECTA):c.706A>G (p.Thr236Ala)
|
rs200752577
|
0.00001
|
NM_005548.3(KARS1):c.1232C>T (p.Thr411Met)
|
rs768044754
|
0.00001
|
NM_005633.4(SOS1):c.1412G>C (p.Cys471Ser)
|
rs397517151
|
0.00001
|
NM_005633.4(SOS1):c.1564A>C (p.Asn522His)
|
rs761094509
|
0.00001
|
NM_005633.4(SOS1):c.2064-15G>T
|
rs746484679
|
0.00001
|
NM_005633.4(SOS1):c.281T>C (p.Ile94Thr)
|
rs397517161
|
0.00001
|
NM_005633.4(SOS1):c.350T>G (p.Val117Gly)
|
rs201085754
|
0.00001
|
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu)
|
rs367693130
|
0.00001
|
NM_005633.4(SOS1):c.3734G>T (p.Gly1245Val)
|
rs397517169
|
0.00001
|
NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr)
|
rs972166211
|
0.00001
|
NM_005633.4(SOS1):c.688T>G (p.Phe230Val)
|
rs397517177
|
0.00001
|
NM_005633.4(SOS1):c.88-14C>G
|
rs727504900
|
0.00001
|
NM_005857.5(ZMPSTE24):c.955-1G>A
|
rs764861582
|
0.00001
|
NM_006005.3(WFS1):c.-4C>T
|
rs746340627
|
0.00001
|
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn)
|
rs772392224
|
0.00001
|
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)
|
rs773900146
|
0.00001
|
NM_006005.3(WFS1):c.1103G>A (p.Ser368Asn)
|
rs397517194
|
0.00001
|
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu)
|
rs149865710
|
0.00001
|
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser)
|
rs727503750
|
0.00001
|
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val)
|
rs201557396
|
0.00001
|
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr)
|
rs876658118
|
0.00001
|
NM_006005.3(WFS1):c.1837T>G (p.Trp613Gly)
|
rs1730924133
|
0.00001
|
NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser)
|
rs202195756
|
0.00001
|
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg)
|
rs876658119
|
0.00001
|
NM_006005.3(WFS1):c.2407G>A (p.Val803Met)
|
rs745988826
|
0.00001
|
NM_006005.3(WFS1):c.2555_2560dup (p.Gln853_Leu854insProGln)
|
rs730880368
|
0.00001
|
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr)
|
rs776685250
|
0.00001
|
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)
|
rs727503747
|
0.00001
|
NM_006005.3(WFS1):c.83A>G (p.Asn28Ser)
|
rs397517198
|
0.00001
|
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr)
|
rs537052067
|
0.00001
|
NM_006073.4(TRDN):c.17C>T (p.Ala6Val)
|
rs764897557
|
0.00001
|
NM_006073.4(TRDN):c.990A>G (p.Lys330=)
|
rs941068115
|
0.00001
|
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)
|
rs886042002
|
0.00001
|
NM_006231.4(POLE):c.1051G>A (p.Val351Ile)
|
rs759414746
|
0.00001
|
NM_006231.4(POLE):c.1107-3C>T
|
rs369572563
|
0.00001
|
NM_006231.4(POLE):c.1280C>T (p.Ala427Val)
|
rs878854841
|
0.00001
|
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu)
|
rs780556141
|
0.00001
|
NM_006231.4(POLE):c.1744C>T (p.Leu582Phe)
|
rs761273376
|
0.00001
|
NM_006231.4(POLE):c.218A>G (p.Asp73Gly)
|
rs1060500786
|
0.00001
|
NM_006231.4(POLE):c.2711G>C (p.Gly904Ala)
|
rs1332965505
|
0.00001
|
NM_006231.4(POLE):c.3223A>T (p.Ser1075Cys)
|
rs145680387
|
0.00001
|
NM_006231.4(POLE):c.4012G>A (p.Glu1338Lys)
|
rs751555395
|
0.00001
|
NM_006231.4(POLE):c.5221C>T (p.Gln1741Ter)
|
rs781481160
|
0.00001
|
NM_006231.4(POLE):c.5270G>T (p.Ser1757Ile)
|
rs878854882
|
0.00001
|
NM_006231.4(POLE):c.5591T>C (p.Ile1864Thr)
|
rs896266569
|
0.00001
|
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr)
|
rs528752399
|
0.00001
|
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys)
|
rs5745067
|
0.00001
|
NM_006231.4(POLE):c.797G>T (p.Arg266Leu)
|
rs115786159
|
0.00001
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val)
|
rs1237891829
|
0.00001
|
NM_006393.3(NEBL):c.1617del (p.Ser539fs)
|
rs727504917
|
0.00001
|
NM_006393.3(NEBL):c.1904C>T (p.Ala635Val)
|
rs727503335
|
0.00001
|
NM_006393.3(NEBL):c.2056-13T>G
|
rs727504473
|
0.00001
|
NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys)
|
rs150152361
|
0.00001
|
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu)
|
rs876657926
|
0.00001
|
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser)
|
rs876657927
|
0.00001
|
NM_006767.4(LZTR1):c.2471T>C (p.Leu824Pro)
|
rs752239353
|
0.00001
|
NM_006912.6(RIT1):c.-43-74G>A
|
rs730881012
|
0.00001
|
NM_006941.4(SOX10):c.71C>A (p.Ser24Tyr)
|
rs1339336077
|
0.00001
|
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly)
|
rs764530865
|
0.00001
|
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly)
|
rs777547764
|
0.00001
|
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn)
|
rs397517212
|
0.00001
|
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu)
|
rs139709036
|
0.00001
|
NM_007078.3(LDB3):c.1786G>A (p.Val596Ile)
|
rs727503130
|
0.00001
|
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter)
|
rs727503132
|
0.00001
|
NM_007078.3(LDB3):c.1799G>A (p.Arg600Gln)
|
rs747523570
|
0.00001
|
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr)
|
rs727505129
|
0.00001
|
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser)
|
rs397517222
|
0.00001
|
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter)
|
rs727503123
|
0.00001
|
NM_007078.3(LDB3):c.845C>T (p.Thr282Met)
|
rs199811186
|
0.00001
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
NM_012208.4(HARS2):c.1217G>A (p.Arg406Gln)
|
rs752472621
|
0.00001
|
NM_012208.4(HARS2):c.503G>A (p.Arg168His)
|
rs764476456
|
0.00001
|
NM_012208.4(HARS2):c.697C>T (p.Arg233Cys)
|
rs749799529
|
0.00001
|
NM_013296.5(GPSM2):c.1021G>A (p.Ala341Thr)
|
rs727505313
|
0.00001
|
NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly)
|
rs765450533
|
0.00001
|
NM_013296.5(GPSM2):c.818G>A (p.Arg273Gln)
|
rs77121685
|
0.00001
|
NM_014000.3(VCL):c.163G>T (p.Val55Phe)
|
rs755441334
|
0.00001
|
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg)
|
rs397517236
|
0.00001
|
NM_014000.3(VCL):c.313C>T (p.Arg105Ter)
|
rs397517239
|
0.00001
|
NM_014000.3(VCL):c.3226C>T (p.Arg1076Trp)
|
rs397517241
|
0.00001
|
NM_014000.3(VCL):c.610G>C (p.Val204Leu)
|
rs727504585
|
0.00001
|
NM_014000.3(VCL):c.854G>A (p.Arg285His)
|
rs397517246
|
0.00001
|
NM_014000.3(VCL):c.952C>T (p.Arg318Cys)
|
rs397517247
|
0.00001
|
NM_014332.3(SMPX):c.182A>G (p.Lys61Arg)
|
rs201681071
|
0.00001
|
NM_014391.3(ANKRD1):c.256G>C (p.Asp86His)
|
rs573892607
|
0.00001
|
NM_014391.3(ANKRD1):c.458A>T (p.Lys153Ile)
|
rs727502889
|
0.00001
|
NM_014391.3(ANKRD1):c.805C>T (p.Arg269Ter)
|
rs397517254
|
0.00001
|
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn)
|
rs876657786
|
0.00001
|
NM_015340.4(LARS2):c.2572C>A (p.Gln858Lys)
|
rs777893707
|
0.00001
|
NM_015404.4(WHRN):c.1547C>T (p.Thr516Ile)
|
rs756090687
|
0.00001
|
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr)
|
rs201690920
|
0.00001
|
NM_015404.4(WHRN):c.2284G>A (p.Glu762Lys)
|
rs757731586
|
0.00001
|
NM_015404.4(WHRN):c.725G>A (p.Arg242His)
|
rs727505127
|
0.00001
|
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala)
|
rs553128312
|
0.00001
|
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val)
|
rs370257703
|
0.00001
|
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu)
|
rs373477232
|
0.00001
|
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)
|
rs397517264
|
0.00001
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
0.00001
|
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)
|
rs397517267
|
0.00001
|
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn)
|
rs369687307
|
0.00001
|
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu)
|
rs397517271
|
0.00001
|
NM_016203.4(PRKAG2):c.685-7C>A
|
rs397517278
|
0.00001
|
NM_016239.4(MYO15A):c.1525G>A (p.Asp509Asn)
|
rs1450338630
|
0.00001
|
NM_016239.4(MYO15A):c.3005C>A (p.Thr1002Asn)
|
rs758747812
|
0.00001
|
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu)
|
rs192483691
|
0.00001
|
NM_016239.4(MYO15A):c.4026G>A (p.Met1342Ile)
|
rs370707928
|
0.00001
|
NM_016239.4(MYO15A):c.4207-3C>G
|
rs771434501
|
0.00001
|
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys)
|
rs749812958
|
0.00001
|
NM_016239.4(MYO15A):c.4462G>A (p.Val1488Ile)
|
rs748323602
|
0.00001
|
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr)
|
rs576399072
|
0.00001
|
NM_016239.4(MYO15A):c.515T>C (p.Leu172Pro)
|
rs1222532998
|
0.00001
|
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln)
|
rs756752580
|
0.00001
|
NM_016239.4(MYO15A):c.6170A>C (p.His2057Pro)
|
rs876657902
|
0.00001
|
NM_016239.4(MYO15A):c.6292G>A (p.Asp2098Asn)
|
rs727503311
|
0.00001
|
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser)
|
rs375459945
|
0.00001
|
NM_016239.4(MYO15A):c.700G>C (p.Glu234Gln)
|
rs767935511
|
0.00001
|
NM_016239.4(MYO15A):c.7400G>A (p.Arg2467Gln)
|
rs865982060
|
0.00001
|
NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg)
|
rs756565842
|
0.00001
|
NM_016239.4(MYO15A):c.7685C>T (p.Ser2562Phe)
|
rs876657904
|
0.00001
|
NM_016239.4(MYO15A):c.8340+5G>A
|
rs752773977
|
0.00001
|
NM_016239.4(MYO15A):c.8404A>G (p.Met2802Val)
|
rs727503318
|
0.00001
|
NM_016239.4(MYO15A):c.869A>G (p.Tyr290Cys)
|
rs766482387
|
0.00001
|
NM_016239.4(MYO15A):c.9517+12A>G
|
rs727503320
|
0.00001
|
NM_016239.4(MYO15A):c.9880C>T (p.Arg3294Trp)
|
rs377125285
|
0.00001
|
NM_016599.5(MYOZ2):c.649C>A (p.Pro217Thr)
|
rs751294999
|
0.00001
|
NM_017433.5(MYO3A):c.1A>G (p.Met1Val)
|
rs727504593
|
0.00001
|
NM_017433.5(MYO3A):c.2168A>G (p.Asn723Ser)
|
rs771154512
|
0.00001
|
NM_017433.5(MYO3A):c.285G>T (p.Lys95Asn)
|
rs1282051090
|
0.00001
|
NM_017433.5(MYO3A):c.4474C>A (p.Pro1492Thr)
|
rs368473860
|
0.00001
|
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His)
|
rs946083212
|
0.00001
|
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys)
|
rs376689092
|
0.00001
|
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu)
|
rs778361949
|
0.00001
|
NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys)
|
rs776900495
|
0.00001
|
NM_017780.4(CHD7):c.323C>A (p.Pro108His)
|
rs369818702
|
0.00001
|
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln)
|
rs185150226
|
0.00001
|
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile)
|
rs374602567
|
0.00001
|
NM_017950.4(CCDC40):c.1317+42G>A
|
rs756283987
|
0.00001
|
NM_018139.3(DNAAF2):c.1795G>A (p.Ala599Thr)
|
rs756765143
|
0.00001
|
NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr)
|
rs761407249
|
0.00001
|
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)
|
rs397517184
|
0.00001
|
NM_020297.4(ABCC9):c.169C>T (p.Gln57Ter)
|
rs727502876
|
0.00001
|
NM_020297.4(ABCC9):c.1933A>G (p.Lys645Glu)
|
rs876657734
|
0.00001
|
NM_020297.4(ABCC9):c.1982G>A (p.Arg661His)
|
rs397517185
|
0.00001
|
NM_020297.4(ABCC9):c.2081G>A (p.Arg694Gln)
|
rs267603424
|
0.00001
|
NM_020297.4(ABCC9):c.2149G>A (p.Ala717Thr)
|
rs397517187
|
0.00001
|
NM_020297.4(ABCC9):c.2425-13G>A
|
rs397517188
|
0.00001
|
NM_020297.4(ABCC9):c.289C>T (p.Arg97Trp)
|
rs727502875
|
0.00001
|
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg)
|
rs727505161
|
0.00001
|
NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala)
|
rs397517190
|
0.00001
|
NM_020297.4(ABCC9):c.4512+787A>G
|
rs372859669
|
0.00001
|
NM_020297.4(ABCC9):c.47A>G (p.Asn16Ser)
|
rs727502877
|
0.00001
|
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)
|
rs104894342
|
0.00001
|
NM_020975.6(RET):c.3148C>G (p.Arg1050Gly)
|
rs767479170
|
0.00001
|
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)
|
rs532862288
|
0.00001
|
NM_020975.6(RET):c.544C>A (p.Pro182Thr)
|
rs775086466
|
0.00001
|
NM_020975.6(RET):c.937C>T (p.Arg313Trp)
|
rs1057521089
|
0.00001
|
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro)
|
rs745685973
|
0.00001
|
NM_022114.4(PRDM16):c.1877A>T (p.Asp626Val)
|
rs876657958
|
0.00001
|
NM_022114.4(PRDM16):c.2060G>C (p.Gly687Ala)
|
rs876657959
|
0.00001
|
NM_022114.4(PRDM16):c.2434C>T (p.Arg812Cys)
|
rs876657960
|
0.00001
|
NM_022114.4(PRDM16):c.867G>A (p.Met289Ile)
|
rs375991356
|
0.00001
|
NM_022124.6(CDH23):c.10027G>A (p.Val3343Met)
|
rs756425157
|
0.00001
|
NM_022124.6(CDH23):c.1411G>A (p.Glu471Lys)
|
rs778511495
|
0.00001
|
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu)
|
rs397517308
|
0.00001
|
NM_022124.6(CDH23):c.1583G>A (p.Arg528His)
|
rs761468283
|
0.00001
|
NM_022124.6(CDH23):c.1660G>A (p.Val554Ile)
|
rs727504910
|
0.00001
|
NM_022124.6(CDH23):c.1678A>G (p.Thr560Ala)
|
rs767986806
|
0.00001
|
NM_022124.6(CDH23):c.1859T>C (p.Val620Ala)
|
rs775889210
|
0.00001
|
NM_022124.6(CDH23):c.2008A>T (p.Thr670Ser)
|
rs1304555485
|
0.00001
|
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp)
|
rs528779319
|
0.00001
|
NM_022124.6(CDH23):c.2836G>A (p.Val946Met)
|
rs931850625
|
0.00001
|
NM_022124.6(CDH23):c.2840T>A (p.Val947Glu)
|
rs397517318
|
0.00001
|
NM_022124.6(CDH23):c.2870G>A (p.Arg957His)
|
rs748047907
|
0.00001
|
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr)
|
rs397517320
|
0.00001
|
NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr)
|
rs369002480
|
0.00001
|
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln)
|
rs397517322
|
0.00001
|
NM_022124.6(CDH23):c.3503G>A (p.Arg1168Gln)
|
rs727502925
|
0.00001
|
NM_022124.6(CDH23):c.3925G>A (p.Glu1309Lys)
|
rs111033468
|
0.00001
|
NM_022124.6(CDH23):c.4104+44C>T
|
rs1483809141
|
0.00001
|
NM_022124.6(CDH23):c.4207-8G>T
|
rs748187466
|
0.00001
|
NM_022124.6(CDH23):c.4359G>C (p.Gln1453His)
|
rs1435336806
|
0.00001
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00001
|
NM_022124.6(CDH23):c.4694A>C (p.Tyr1565Ser)
|
rs727504606
|
0.00001
|
NM_022124.6(CDH23):c.4730G>A (p.Arg1577His)
|
rs771464282
|
0.00001
|
NM_022124.6(CDH23):c.5179A>G (p.Thr1727Ala)
|
rs762005355
|
0.00001
|
NM_022124.6(CDH23):c.5353G>A (p.Asp1785Asn)
|
rs397517338
|
0.00001
|
NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg)
|
rs727504894
|
0.00001
|
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=)
|
rs373462599
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys)
|
rs761082272
|
0.00001
|
NM_022124.6(CDH23):c.6829+3A>G
|
rs780258798
|
0.00001
|
NM_022124.6(CDH23):c.7055-15G>A
|
rs371872394
|
0.00001
|
NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg)
|
rs181197242
|
0.00001
|
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln)
|
rs727502932
|
0.00001
|
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu)
|
rs538435711
|
0.00001
|
NM_022124.6(CDH23):c.8065-9C>T
|
rs397517355
|
0.00001
|
NM_022124.6(CDH23):c.8404A>G (p.Ile2802Val)
|
rs766924822
|
0.00001
|
NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn)
|
rs397517361
|
0.00001
|
NM_022124.6(CDH23):c.8G>A (p.Arg3His)
|
rs397517363
|
0.00001
|
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp)
|
rs397517364
|
0.00001
|
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn)
|
rs368603948
|
0.00001
|
NM_022124.6(CDH23):c.9264G>C (p.Trp3088Cys)
|
rs876657759
|
0.00001
|
NM_022124.6(CDH23):c.9503G>A (p.Arg3168His)
|
rs754557923
|
0.00001
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
NM_024009.3(GJB3):c.64C>T (p.Arg22Cys)
|
rs145247495
|
0.00001
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His)
|
rs727505249
|
0.00001
|
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr)
|
rs397517385
|
0.00001
|
NM_024334.3(TMEM43):c.883-15C>A
|
rs727504984
|
0.00001
|
NM_024334.3(TMEM43):c.961A>G (p.Met321Val)
|
rs397517387
|
0.00001
|
NM_024422.6(DSC2):c.1521-5A>G
|
rs397517392
|
0.00001
|
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn)
|
rs397517397
|
0.00001
|
NM_024422.6(DSC2):c.2357T>C (p.Met786Thr)
|
rs397517398
|
0.00001
|
NM_024422.6(DSC2):c.2446G>A (p.Val816Met)
|
rs377700521
|
0.00001
|
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)
|
rs727504823
|
0.00001
|
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu)
|
rs727504906
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_024422.6(DSC2):c.893A>T (p.His298Leu)
|
rs397517407
|
0.00001
|
NM_024426.6(WT1):c.977G>C (p.Gly326Ala)
|
rs766054482
|
0.00001
|
NM_030662.4(MAP2K2):c.1061C>T (p.Pro354Leu)
|
rs879819202
|
0.00001
|
NM_030662.4(MAP2K2):c.1064C>T (p.Ala355Val)
|
rs768826287
|
0.00001
|
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)
|
rs757240576
|
0.00001
|
NM_031475.3(ESPN):c.2026A>G (p.Thr676Ala)
|
rs727504842
|
0.00001
|
NM_031475.3(ESPN):c.2120C>T (p.Pro707Leu)
|
rs576917953
|
0.00001
|
NM_031475.3(ESPN):c.2552T>G (p.Ile851Ser)
|
rs752357040
|
0.00001
|
NM_031475.3(ESPN):c.931C>A (p.Leu311Met)
|
rs766939513
|
0.00001
|
NM_032119.4(ADGRV1):c.-26_-9del
|
rs773996398
|
0.00001
|
NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu)
|
rs780372483
|
0.00001
|
NM_032119.4(ADGRV1):c.11411G>A (p.Arg3804Gln)
|
rs876657817
|
0.00001
|
NM_032119.4(ADGRV1):c.12424C>T (p.Arg4142Trp)
|
rs534226753
|
0.00001
|
NM_032119.4(ADGRV1):c.12613T>G (p.Ser4205Ala)
|
rs746448681
|
0.00001
|
NM_032119.4(ADGRV1):c.12637G>A (p.Glu4213Lys)
|
rs397517421
|
0.00001
|
NM_032119.4(ADGRV1):c.1466C>T (p.Pro489Leu)
|
rs371781264
|
0.00001
|
NM_032119.4(ADGRV1):c.16190C>T (p.Pro5397Leu)
|
rs998194428
|
0.00001
|
NM_032119.4(ADGRV1):c.17192C>G (p.Ser5731Cys)
|
rs727503086
|
0.00001
|
NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr)
|
rs560274484
|
0.00001
|
NM_032119.4(ADGRV1):c.17857-11G>A
|
rs918520562
|
0.00001
|
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser)
|
rs876657823
|
0.00001
|
NM_032119.4(ADGRV1):c.18125A>G (p.Gln6042Arg)
|
rs764963960
|
0.00001
|
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)
|
rs757860505
|
0.00001
|
NM_032119.4(ADGRV1):c.305A>G (p.Asp102Gly)
|
rs876657824
|
0.00001
|
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys)
|
rs876657822
|
0.00001
|
NM_032119.4(ADGRV1):c.3704A>G (p.Asn1235Ser)
|
rs746622083
|
0.00001
|
NM_032119.4(ADGRV1):c.3943C>A (p.Gln1315Lys)
|
rs764685377
|
0.00001
|
NM_032119.4(ADGRV1):c.4373C>G (p.Thr1458Ser)
|
rs562424836
|
0.00001
|
NM_032119.4(ADGRV1):c.4771A>G (p.Thr1591Ala)
|
rs775471701
|
0.00001
|
NM_032119.4(ADGRV1):c.6275-9G>T
|
rs1206365367
|
0.00001
|
NM_032119.4(ADGRV1):c.670G>A (p.Glu224Lys)
|
rs727504958
|
0.00001
|
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp)
|
rs397517434
|
0.00001
|
NM_032119.4(ADGRV1):c.7748A>G (p.Tyr2583Cys)
|
rs778879752
|
0.00001
|
NM_032119.4(ADGRV1):c.8870G>A (p.Gly2957Glu)
|
rs762211616
|
0.00001
|
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu)
|
rs766790920
|
0.00001
|
NM_032229.3(SLITRK6):c.1555T>C (p.Trp519Arg)
|
rs1200848224
|
0.00001
|
NM_032229.3(SLITRK6):c.1754C>T (p.Thr585Ile)
|
rs1229145139
|
0.00001
|
NM_032578.4(MYPN):c.1225C>T (p.Arg409Cys)
|
rs757431496
|
0.00001
|
NM_032578.4(MYPN):c.2134G>C (p.Ala712Pro)
|
rs876657921
|
0.00001
|
NM_032578.4(MYPN):c.3156C>T (p.His1052=)
|
rs876657923
|
0.00001
|
NM_032578.4(MYPN):c.80G>C (p.Arg27Pro)
|
rs529359915
|
0.00001
|
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala)
|
rs751863041
|
0.00001
|
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu)
|
rs1268531021
|
0.00001
|
NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser)
|
rs775203432
|
0.00001
|
NM_033118.4(MYLK2):c.1112T>C (p.Ile371Thr)
|
rs727505336
|
0.00001
|
NM_033337.3(CAV3):c.6_7del (p.Met2fs)
|
rs1060502318
|
0.00001
|
NM_033409.4(SLC52A3):c.1009G>A (p.Ala337Thr)
|
rs139542858
|
0.00001
|
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys)
|
rs778479139
|
0.00001
|
NM_080680.3(COL11A2):c.1694G>A (p.Gly565Glu)
|
rs781378391
|
0.00001
|
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln)
|
rs528989984
|
0.00001
|
NM_080680.3(COL11A2):c.2693G>A (p.Gly898Glu)
|
rs727502941
|
0.00001
|
NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser)
|
rs764935691
|
0.00001
|
NM_080680.3(COL11A2):c.3799-9C>G
|
rs762361602
|
0.00001
|
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys)
|
rs727504543
|
0.00001
|
NM_080680.3(COL11A2):c.4924C>G (p.Leu1642Val)
|
rs770715075
|
0.00001
|
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)
|
rs781633250
|
0.00001
|
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His)
|
rs138667578
|
0.00001
|
NM_133261.3(GIPC3):c.271C>T (p.Leu91Phe)
|
rs1599862314
|
0.00001
|
NM_133261.3(GIPC3):c.298G>A (p.Asp100Asn)
|
rs727503063
|
0.00001
|
NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr)
|
rs904746365
|
0.00001
|
NM_133261.3(GIPC3):c.674G>A (p.Arg225His)
|
rs727503064
|
0.00001
|
NM_133379.5(TTN):c.10633C>T (p.Pro3545Ser)
|
rs373311410
|
0.00001
|
NM_133379.5(TTN):c.10684T>G (p.Ser3562Ala)
|
rs727503673
|
0.00001
|
NM_133379.5(TTN):c.10880G>C (p.Gly3627Ala)
|
rs727503674
|
0.00001
|
NM_133379.5(TTN):c.11066del (p.Val3689fs)
|
rs727503671
|
0.00001
|
NM_133379.5(TTN):c.11168C>T (p.Thr3723Met)
|
rs397517803
|
0.00001
|
NM_133379.5(TTN):c.11512C>T (p.Gln3838Ter)
|
rs756000739
|
0.00001
|
NM_133379.5(TTN):c.11956C>T (p.Arg3986Cys)
|
rs200935937
|
0.00001
|
NM_133379.5(TTN):c.12484C>T (p.Gln4162Ter)
|
rs727504521
|
0.00001
|
NM_133379.5(TTN):c.12653T>C (p.Ile4218Thr)
|
rs397517805
|
0.00001
|
NM_133379.5(TTN):c.13013A>G (p.His4338Arg)
|
rs140583865
|
0.00001
|
NM_133379.5(TTN):c.13210A>G (p.Arg4404Gly)
|
rs397517807
|
0.00001
|
NM_133379.5(TTN):c.14552T>C (p.Ile4851Thr)
|
rs143310631
|
0.00001
|
NM_133379.5(TTN):c.14902G>A (p.Asp4968Asn)
|
rs371444691
|
0.00001
|
NM_133379.5(TTN):c.15169G>T (p.Glu5057Ter)
|
rs727503665
|
0.00001
|
NM_133379.5(TTN):c.15338C>T (p.Ala5113Val)
|
rs397517816
|
0.00001
|
NM_133379.5(TTN):c.15487C>T (p.Arg5163Cys)
|
rs727504760
|
0.00001
|
NM_133379.5(TTN):c.15653G>A (p.Arg5218Gln)
|
rs727505032
|
0.00001
|
NM_133379.5(TTN):c.15961G>A (p.Val5321Ile)
|
rs397517817
|
0.00001
|
NM_133379.5(TTN):c.16353C>G (p.Tyr5451Ter)
|
rs397517821
|
0.00001
|
NM_138691.3(TMC1):c.1189G>A (p.Asp397Asn)
|
rs185702148
|
0.00001
|
NM_138691.3(TMC1):c.2044G>C (p.Glu682Gln)
|
rs199819595
|
0.00001
|
NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr)
|
rs397517838
|
0.00001
|
NM_138691.3(TMC1):c.543T>G (p.Phe181Leu)
|
rs989635871
|
0.00001
|
NM_138691.3(TMC1):c.637C>T (p.Pro213Ser)
|
rs745569653
|
0.00001
|
NM_138691.3(TMC1):c.884+2dup
|
rs876658020
|
0.00001
|
NM_139319.3(SLC17A8):c.705G>A (p.Met235Ile)
|
rs144556614
|
0.00001
|
NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly)
|
rs768693715
|
0.00001
|
NM_144573.4(NEXN):c.1366G>A (p.Gly456Arg)
|
rs397517844
|
0.00001
|
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)
|
rs539665448
|
0.00001
|
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu)
|
rs727504758
|
0.00001
|
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs)
|
rs779350415
|
0.00001
|
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg)
|
rs876657929
|
0.00001
|
NM_144573.4(NEXN):c.299-3T>C
|
rs397517856
|
0.00001
|
NM_144573.4(NEXN):c.341_342del (p.Gln114fs)
|
rs397517857
|
0.00001
|
NM_144612.3(LOXHD1):c.3328G>T (p.Ala1110Ser)
|
rs727504587
|
0.00001
|
NM_144672.4(OTOA):c.1292T>C (p.Leu431Ser)
|
rs1332276288
|
0.00001
|
NM_144672.4(OTOA):c.2305C>T (p.Pro769Ser)
|
rs769182891
|
0.00001
|
NM_144672.4(OTOA):c.401A>G (p.Asp134Gly)
|
rs753359371
|
0.00001
|
NM_144991.3(TSPEAR):c.1786G>A (p.Glu596Lys)
|
rs782790512
|
0.00001
|
NM_144991.3(TSPEAR):c.802C>T (p.Arg268Ter)
|
rs782471965
|
0.00001
|
NM_144991.3(TSPEAR):c.81A>C (p.Thr27=)
|
rs149709159
|
0.00001
|
NM_147196.3(TMIE):c.419A>G (p.Lys140Arg)
|
rs201397940
|
0.00001
|
NM_152701.5(ABCA13):c.11920C>T (p.Arg3974Ter)
|
rs544438554
|
0.00001
|
NM_153676.4(USH1C):c.1211-1107C>T
|
rs727504667
|
0.00001
|
NM_153676.4(USH1C):c.1476G>T (p.Arg492Ser)
|
rs765918184
|
0.00001
|
NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp)
|
rs868001349
|
0.00001
|
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser)
|
rs775363189
|
0.00001
|
NM_153676.4(USH1C):c.164G>A (p.Arg55His)
|
rs1042393529
|
0.00001
|
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val)
|
rs727505187
|
0.00001
|
NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu)
|
rs1157049229
|
0.00001
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00001
|
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe)
|
rs140313023
|
0.00001
|
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser)
|
rs727505083
|
0.00001
|
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)
|
rs150593932
|
0.00001
|
NM_153676.4(USH1C):c.2577C>A (p.Ser859Arg)
|
rs199827989
|
0.00001
|
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys)
|
rs397517880
|
0.00001
|
NM_153676.4(USH1C):c.497-3C>A
|
rs958295779
|
0.00001
|
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)
|
rs372789934
|
0.00001
|
NM_153700.2(STRC):c.3404T>G (p.Leu1135Arg)
|
rs876658009
|
0.00001
|
NM_153700.2(STRC):c.4279A>G (p.Ser1427Gly)
|
rs760961629
|
0.00001
|
NM_153700.2(STRC):c.436G>A (p.Gly146Arg)
|
rs757152351
|
0.00001
|
NM_170682.4(P2RX2):c.1090C>G (p.Leu364Val)
|
rs749812549
|
0.00001
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys)
|
rs397517892
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_170707.4(LMNA):c.1699-8C>G
|
rs727503137
|
0.00001
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)
|
rs397517898
|
0.00001
|
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)
|
rs58917027
|
0.00001
|
NM_170707.4(LMNA):c.640-11A>C
|
rs727504932
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_173477.5(USH1G):c.1179G>T (p.Glu393Asp)
|
rs146287064
|
0.00001
|
NM_173477.5(USH1G):c.1217C>G (p.Ala406Gly)
|
rs1282068985
|
0.00001
|
NM_173477.5(USH1G):c.43G>C (p.Glu15Gln)
|
rs757653096
|
0.00001
|
NM_173477.5(USH1G):c.481A>C (p.Met161Leu)
|
rs1167902295
|
0.00001
|
NM_173477.5(USH1G):c.734C>T (p.Ser245Leu)
|
rs397517928
|
0.00001
|
NM_174936.4(PCSK9):c.2004C>A (p.Ser668Arg)
|
rs762298323
|
0.00001
|
NM_178335.3(CCDC50):c.226C>T (p.Arg76Cys)
|
rs575240044
|
0.00001
|
NM_178335.3(CCDC50):c.923C>G (p.Pro308Arg)
|
rs1064796789
|
0.00001
|
NM_178857.6(RP1L1):c.5247C>G (p.Ser1749Arg)
|
rs778715898
|
0.00001
|
NM_182548.4(LHFPL5):c.176C>A (p.Ala59Glu)
|
rs876657848
|
0.00001
|
NM_182548.4(LHFPL5):c.638C>A (p.Ala213Glu)
|
rs555379908
|
0.00001
|
NM_182746.3(MCM4):c.832+2T>C
|
rs1408879284
|
0.00001
|
NM_194248.3(OTOF):c.1614C>A (p.Asn538Lys)
|
rs111033350
|
0.00001
|
NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu)
|
rs551919295
|
0.00001
|
NM_194248.3(OTOF):c.224A>G (p.Asn75Ser)
|
rs775875524
|
0.00001
|
NM_194248.3(OTOF):c.251T>C (p.Val84Ala)
|
rs727505096
|
0.00001
|
NM_194248.3(OTOF):c.3290T>C (p.Ile1097Thr)
|
rs764162969
|
0.00001
|
NM_194248.3(OTOF):c.3316C>A (p.Pro1106Thr)
|
rs727505141
|
0.00001
|
NM_194248.3(OTOF):c.3408+5G>A
|
rs760279912
|
0.00001
|
NM_194248.3(OTOF):c.3571-6C>A
|
rs397517944
|
0.00001
|
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn)
|
rs774929350
|
0.00001
|
NM_194248.3(OTOF):c.4128G>T (p.Arg1376Ser)
|
rs764461086
|
0.00001
|
NM_194248.3(OTOF):c.4213A>G (p.Ile1405Val)
|
rs201123430
|
0.00001
|
NM_194248.3(OTOF):c.4227+5G>C
|
rs571671530
|
0.00001
|
NM_194248.3(OTOF):c.4561C>T (p.Leu1521=)
|
rs905144471
|
0.00001
|
NM_194248.3(OTOF):c.4681G>A (p.Val1561Met)
|
rs763032357
|
0.00001
|
NM_194248.3(OTOF):c.523G>A (p.Val175Met)
|
rs765791956
|
0.00001
|
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys)
|
rs142111099
|
0.00001
|
NM_194248.3(OTOF):c.80G>A (p.Gly27Glu)
|
rs778056468
|
0.00001
|
NM_198253.3(TERT):c.1604G>A (p.Arg535His)
|
rs768398955
|
0.00001
|
NM_198253.3(TERT):c.2225G>A (p.Arg742His)
|
rs727503468
|
0.00001
|
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
|
rs193922728
|
0.00001
|
NM_201596.3(CACNB2):c.1873C>T (p.Arg625Cys)
|
rs1060499847
|
0.00001
|
NM_203447.4(DOCK8):c.3487C>T (p.Leu1163Phe)
|
rs577097803
|
0.00001
|
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)
|
rs397517970
|
0.00001
|
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg)
|
rs397517971
|
0.00001
|
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)
|
rs111033395
|
0.00001
|
NM_206933.4(USH2A):c.11596G>C (p.Ala3866Pro)
|
rs1571639421
|
0.00001
|
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile)
|
rs1401744202
|
0.00001
|
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala)
|
rs727505322
|
0.00001
|
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His)
|
rs397517980
|
0.00001
|
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
NM_206933.4(USH2A):c.12633T>G (p.Ile4211Met)
|
rs727503716
|
0.00001
|
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys)
|
rs921800139
|
0.00001
|
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln)
|
rs1220949681
|
0.00001
|
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe)
|
rs41308423
|
0.00001
|
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile)
|
rs397517996
|
0.00001
|
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly)
|
rs397518005
|
0.00001
|
NM_206933.4(USH2A):c.2167+4C>T
|
rs200638562
|
0.00001
|
NM_206933.4(USH2A):c.2479A>C (p.Asn827His)
|
rs876658114
|
0.00001
|
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser)
|
rs372843685
|
0.00001
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
0.00001
|
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
|
rs202247801
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile)
|
rs961580455
|
0.00001
|
NM_206933.4(USH2A):c.4559T>A (p.Ile1520Asn)
|
rs727503730
|
0.00001
|
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys)
|
rs529355834
|
0.00001
|
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp)
|
rs397518024
|
0.00001
|
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn)
|
rs727503724
|
0.00001
|
NM_206933.4(USH2A):c.652-9T>G
|
rs1231791432
|
0.00001
|
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met)
|
rs727503721
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr)
|
rs374569301
|
0.00001
|
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile)
|
rs876658115
|
0.00001
|
NM_206933.4(USH2A):c.7591G>A (p.Asp2531Asn)
|
rs372989431
|
0.00001
|
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu)
|
rs397518034
|
0.00001
|
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)
|
rs549796389
|
0.00001
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg)
|
rs397518037
|
0.00001
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.9956C>T (p.Pro3319Leu)
|
rs761386458
|
0.00001
|
NC_000001.10:g.(?_3313055)_(3313157_?)del
|
|
|
NC_000006.11:g.(?_7585983)_(7586222_?)dup
|
|
|
NC_000006.12:g.(?_35805660)_(35819505_?)dup
|
|
|
NC_000009.12:g.(?_114402754)_(114504801_?)dup
|
|
|
NC_000011.9:g.(?_532631)_(534375_?)dup
|
|
|
NC_000015.10:g.(?_43638998)_(43639062_?)dup
|
|
|
NC_000015.9:g.(?_43891870)_(43897597_?)dup
|
|
|
NC_000015.9:g.(?_43892732)_(43893212_?)dup
|
|
|
NC_000015.9:g.(?_43892732)_(43901532_?)dup
|
|
|
NC_000015.9:g.(?_43893070)_(43903182_?)dup
|
|
|
NC_000015.9:g.(?_43900061)_(43901532_?)dup
|
|
|
NC_000022.11:g.(?_37738534)_(37741122_?)del
|
|
|
NC_012920.1(MT-CYB):m.1106C>T
|
rs1603218523
|
|
NC_012920.1(MT-CYB):m.1183T>C
|
rs1556422511
|
|
NC_012920.1(MT-CYB):m.962C>T
|
rs1556422500
|
|
NC_012920.1(MT-ND1):m.1377C>A
|
rs1603218549
|
|
NC_012920.1:m.1375C>T
|
rs727504803
|
|
NC_012920.1:m.7502C>T
|
rs876657868
|
|
NM_000020.3(ACVRL1):c.1478del (p.Ser493fs)
|
rs1060499838
|
|
NM_000026.4(ADSL):c.153+1G>T
|
rs1555903969
|
|
NM_000038.6(APC):c.1462C>T (p.Leu488Phe)
|
rs587779782
|
|
NM_000038.6(APC):c.2383C>G (p.Leu795Val)
|
rs1442780982
|
|
NM_000038.6(APC):c.2819C>G (p.Ser940Trp)
|
rs544709767
|
|
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser)
|
rs372855304
|
|
NM_000038.6(APC):c.4540C>T (p.Pro1514Ser)
|
rs1060503266
|
|
NM_000038.6(APC):c.4546A>G (p.Ile1516Val)
|
rs1554085952
|
|
NM_000038.6(APC):c.4885C>G (p.His1629Asp)
|
rs765849654
|
|
NM_000038.6(APC):c.5201A>C (p.Lys1734Thr)
|
rs1204161988
|
|
NM_000038.6(APC):c.5645G>C (p.Arg1882Thr)
|
rs34157245
|
|
NM_000038.6(APC):c.5761G>T (p.Gly1921Cys)
|
rs1060503324
|
|
NM_000038.6(APC):c.592G>A (p.Val198Ile)
|
rs1168791940
|
|
NM_000038.6(APC):c.6040G>A (p.Val2014Ile)
|
rs143313902
|
|
NM_000038.6(APC):c.638G>A (p.Arg213Gln)
|
rs1235428754
|
|
NM_000038.6(APC):c.6434G>T (p.Gly2145Val)
|
rs1554087422
|
|
NM_000038.6(APC):c.7289A>C (p.Asp2430Ala)
|
rs1554088226
|
|
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)
|
rs587778037
|
|
NM_000038.6(APC):c.811A>T (p.Met271Leu)
|
rs587781464
|
|
NM_000038.6(APC):c.8181G>C (p.Gln2727His)
|
rs756467505
|
|
NM_000038.6(APC):c.942G>T (p.Met314Ile)
|
rs1350080370
|
|
NM_000041.2:c.[388T>C];[526C>T]
|
|
|
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle)
|
rs276174841
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.9907A>T (p.Ser3303Cys)
|
rs276174930
|
|
NM_000065.5(C6):c.878T>G (p.Ile293Ser)
|
rs966341758
|
|
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)
|
rs80338779
|
|
NM_000069.3(CACNA1S):c.3609+1G>C
|
rs754831666
|
|
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)
|
rs550371466
|
|
NM_000069.3(CACNA1S):c.744_745insTCCT (p.Gly249fs)
|
rs1060499846
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
NM_000091.5(COL4A3):c.3251A>T (p.Glu1084Val)
|
rs2072858880
|
|
NM_000091.5(COL4A3):c.4673T>C (p.Ile1558Thr)
|
rs2073643599
|
|
NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile)
|
rs371173786
|
|
NM_000092.5(COL4A4):c.1459+2C>T
|
rs932962404
|
|
NM_000092.5(COL4A4):c.1825C>G (p.Pro609Ala)
|
rs1263397268
|
|
NM_000092.5(COL4A4):c.3761T>C (p.Ile1254Thr)
|
rs1575916161
|
|
NM_000112.4(SLC26A2):c.2018A>G (p.Asp673Gly)
|
rs774700553
|
|
NM_000116.5(TAFAZZIN):c.371-13C>G
|
rs397515742
|
|
NM_000116.5(TAFAZZIN):c.752G>T (p.Arg251Leu)
|
rs397515748
|
|
NM_000116.5(TAFAZZIN):c.778-24_778-7delinsA
|
rs397515749
|
|
NM_000117.3(EMD):c.70G>A (p.Gly24Arg)
|
rs727504628
|
|
NM_000117.3(EMD):c.711C>G (p.Ile237Met)
|
rs727503037
|
|
NM_000117.3(EMD):c.77T>C (p.Val26Ala)
|
rs727505029
|
|
NM_000121.4(EPOR):c.586-1G>A
|
rs1968352260
|
|
NM_000138.5(FBN1):c.1036T>C (p.Ser346Pro)
|
rs727504361
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.2519C>T (p.Pro840Leu)
|
rs397515777
|
|
NM_000138.5(FBN1):c.2537T>C (p.Ile846Thr)
|
rs876657809
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2757A>G (p.Gly919=)
|
rs397515780
|
|
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser)
|
rs397515795
|
|
NM_000138.5(FBN1):c.415G>C (p.Gly139Arg)
|
rs397515800
|
|
NM_000138.5(FBN1):c.4202C>A (p.Thr1401Asn)
|
rs1555397648
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4459+3A>T
|
rs397515809
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.5225-3C>A
|
rs876657810
|
|
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp)
|
rs397515824
|
|
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
|
rs727504642
|
|
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6690C>G (p.Cys2230Trp)
|
rs727504931
|
|
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly)
|
rs397515838
|
|
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys)
|
rs397515841
|
|
NM_000138.5(FBN1):c.6992G>A (p.Cys2331Tyr)
|
rs397515842
|
|
NM_000138.5(FBN1):c.6997+4A>G
|
rs727503055
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.7203A>G (p.Ala2401=)
|
rs397515850
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7640G>T (p.Ser2547Ile)
|
rs397515855
|
|
NM_000138.5(FBN1):c.7699+5del
|
rs397515856
|
|
NM_000138.5(FBN1):c.7784G>T (p.Gly2595Val)
|
rs397515857
|
|
NM_000138.5(FBN1):c.787A>G (p.Ile263Val)
|
rs876657811
|
|
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)
|
rs111856492
|
|
NM_000138.5(FBN1):c.8362_8386delinsGA (p.Thr2788fs)
|
rs397515862
|
|
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)
|
rs397515863
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
NM_000169.3(GLA):c.178C>A (p.Pro60Thr)
|
rs727504689
|
|
NM_000169.3(GLA):c.485G>T (p.Trp162Leu)
|
rs727504350
|
|
NM_000169.3(GLA):c.643A>C (p.Asn215His)
|
rs727504794
|
|
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)
|
rs397515871
|
|
NM_000169.3(GLA):c.724A>T (p.Ile242Phe)
|
rs397515873
|
|
NM_000169.3(GLA):c.729G>C (p.Leu243Phe)
|
rs397515874
|
|
NM_000169.3(GLA):c.758T>C (p.Ile253Thr)
|
rs727505292
|
|
NM_000169.3(GLA):c.797A>C (p.Asp266Ala)
|
rs28935487
|
|
NM_000169.3(GLA):c.829T>G (p.Trp277Gly)
|
rs727504372
|
|
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)
|
rs398123224
|
|
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe)
|
rs567785169
|
|
NM_000179.3(MSH6):c.1048G>C (p.Ala350Pro)
|
rs1425548621
|
|
NM_000179.3(MSH6):c.1885G>T (p.Asp629Tyr)
|
rs1064795030
|
|
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)
|
rs63751113
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3831C>A (p.Asp1277Glu)
|
rs775752224
|
|
NM_000179.3(MSH6):c.4051_4055dup (p.Lys1352fs)
|
rs1553334033
|
|
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?)
|
rs575068534
|
|
NM_000179.3(MSH6):c.530A>T (p.Gln177Leu)
|
rs1553411434
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000179.3(MSH6):c.895A>G (p.Lys299Glu)
|
rs1553412326
|
|
NM_000218.3(KCNQ1):c.1129-8G>A
|
rs200612600
|
|
NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn)
|
rs537637760
|
|
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly)
|
rs876657836
|
|
NM_000218.3(KCNQ1):c.1394-8C>A
|
rs371488379
|
|
NM_000218.3(KCNQ1):c.1923del (p.Cys642fs)
|
rs1590130358
|
|
NM_000218.3(KCNQ1):c.1926C>G (p.Cys642Trp)
|
rs12720454
|
|
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)
|
rs11601907
|
|
NM_000218.3(KCNQ1):c.285C>A (p.Ser95Arg)
|
rs1589884451
|
|
NM_000218.3(KCNQ1):c.347G>A (p.Arg116His)
|
rs727504506
|
|
NM_000219.3(KCNE1):c.(?_1)_(390_?)dup
|
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
NM_000219.6(KCNE1):c.292C>G (p.Arg98Gly)
|
rs199473362
|
|
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val)
|
rs199472989
|
|
NM_000238.4(KCNH2):c.2398+105del
|
rs546898924
|
|
NM_000238.4(KCNH2):c.2398+71del
|
rs1060499871
|
|
NM_000238.4(KCNH2):c.2592+3G>A
|
rs906562788
|
|
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His)
|
rs202194495
|
|
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala)
|
rs199473009
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])
|
rs551056698
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg)
|
rs886058383
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
NM_000249.4(MLH1):c.379A>C (p.Arg127=)
|
rs587779007
|
|
NM_000249.4(MLH1):c.457G>A (p.Glu153Lys)
|
rs1553642660
|
|
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)
|
rs587779102
|
|
NM_000251.3(MSH2):c.1682_1685inv (p.Glu561_Glu562delinsValLeu)
|
|
|
NM_000251.3(MSH2):c.1765G>A (p.Val589Ile)
|
rs1064793981
|
|
NM_000251.3(MSH2):c.2305T>C (p.Tyr769His)
|
rs1114167859
|
|
NM_000251.3(MSH2):c.2354A>C (p.His785Pro)
|
rs200252727
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000251.3(MSH2):c.2782T>G (p.Ser928Ala)
|
rs587781852
|
|
NM_000256.3(MYBPC3):c.*6_*16del
|
rs727504359
|
|
NM_000256.3(MYBPC3):c.1091-18_1091-8del
|
rs397515886
|
|
NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg)
|
rs397515887
|
|
NM_000256.3(MYBPC3):c.1188G>T (p.Trp396Cys)
|
rs397515890
|
|
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val)
|
rs727503207
|
|
NM_000256.3(MYBPC3):c.1264A>C (p.Thr422Pro)
|
rs727503206
|
|
NM_000256.3(MYBPC3):c.1358C>T (p.Pro453Leu)
|
rs397515898
|
|
NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser)
|
rs397515900
|
|
NM_000256.3(MYBPC3):c.1422G>C (p.Glu474Asp)
|
rs397515901
|
|
NM_000256.3(MYBPC3):c.1456T>G (p.Trp486Gly)
|
rs397515902
|
|
NM_000256.3(MYBPC3):c.1457+5G>C
|
rs727503202
|
|
NM_000256.3(MYBPC3):c.1457+6_1457+25del
|
rs727503201
|
|
NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu)
|
rs397515907
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
NM_000256.3(MYBPC3):c.1535T>A (p.Leu512Gln)
|
rs397515909
|
|
NM_000256.3(MYBPC3):c.1535T>C (p.Leu512Pro)
|
rs397515909
|
|
NM_000256.3(MYBPC3):c.1586C>G (p.Thr529Ser)
|
rs397515911
|
|
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser)
|
rs727504887
|
|
NM_000256.3(MYBPC3):c.1684G>A (p.Ala562Thr)
|
rs397515919
|
|
NM_000256.3(MYBPC3):c.1790+5G>A
|
rs727504489
|
|
NM_000256.3(MYBPC3):c.1808T>C (p.Ile603Thr)
|
rs397515928
|
|
NM_000256.3(MYBPC3):c.1811ACG[1] (p.Asp605del)
|
rs397515930
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys)
|
rs727503194
|
|
NM_000256.3(MYBPC3):c.1897+5G>A
|
rs397515936
|
|
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu)
|
rs397515938
|
|
NM_000256.3(MYBPC3):c.1950C>G (p.Asp650Glu)
|
rs727504250
|
|
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His)
|
rs1800565
|
|
NM_000256.3(MYBPC3):c.2148+6_2148+9del
|
rs397515949
|
|
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly)
|
rs727503190
|
|
NM_000256.3(MYBPC3):c.2309-21G>A
|
rs727505287
|
|
NM_000256.3(MYBPC3):c.2312T>C (p.Val771Ala)
|
rs397515961
|
|
NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly)
|
rs727504335
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
NM_000256.3(MYBPC3):c.2436G>T (p.Lys812Asn)
|
rs727504251
|
|
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp)
|
rs727503188
|
|
NM_000256.3(MYBPC3):c.2456T>C (p.Met819Thr)
|
rs876657870
|
|
NM_000256.3(MYBPC3):c.25+3A>C
|
rs397515968
|
|
NM_000256.3(MYBPC3):c.2512G>A (p.Glu838Lys)
|
rs397515969
|
|
NM_000256.3(MYBPC3):c.2525A>G (p.Tyr842Cys)
|
rs397515971
|
|
NM_000256.3(MYBPC3):c.2533C>T (p.Arg845Cys)
|
rs727504345
|
|
NM_000256.3(MYBPC3):c.26-10G>A
|
rs397515978
|
|
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2623C>T (p.His875Tyr)
|
rs1555120949
|
|
NM_000256.3(MYBPC3):c.2839C>A (p.His947Asn)
|
rs397515988
|
|
NM_000256.3(MYBPC3):c.2904G>C (p.Leu968=)
|
rs747974933
|
|
NM_000256.3(MYBPC3):c.2905+5G>T
|
rs193922381
|
|
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val)
|
rs397515993
|
|
NM_000256.3(MYBPC3):c.2956A>G (p.Lys986Glu)
|
rs876657871
|
|
NM_000256.3(MYBPC3):c.2963G>T (p.Gly988Val)
|
rs727504942
|
|
NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His)
|
rs397516000
|
|
NM_000256.3(MYBPC3):c.3083C>G (p.Thr1028Ser)
|
rs397516002
|
|
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile)
|
rs397516002
|
|
NM_000256.3(MYBPC3):c.3190G>A (p.Asp1064Asn)
|
rs727505191
|
|
NM_000256.3(MYBPC3):c.3281A>T (p.Asn1094Ile)
|
rs397516012
|
|
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)
|
rs187705120
|
|
NM_000256.3(MYBPC3):c.3469C>G (p.Pro1157Ala)
|
rs727505286
|
|
NM_000256.3(MYBPC3):c.3548T>G (p.Phe1183Cys)
|
rs397516024
|
|
NM_000256.3(MYBPC3):c.3677G>T (p.Arg1226Leu)
|
rs397516034
|
|
NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro)
|
rs528940575
|
|
NM_000256.3(MYBPC3):c.3709A>C (p.Thr1237Pro)
|
rs727503168
|
|
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val)
|
rs727504259
|
|
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His)
|
rs730880601
|
|
NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp)
|
rs727504722
|
|
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)
|
rs730880603
|
|
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr)
|
rs397514751
|
|
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr)
|
rs397516041
|
|
NM_000256.3(MYBPC3):c.3797GCC[1] (p.Arg1267del)
|
rs727504933
|
|
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile)
|
rs397516045
|
|
NM_000256.3(MYBPC3):c.505+6T>G
|
rs397516055
|
|
NM_000256.3(MYBPC3):c.518C>A (p.Thr173Asn)
|
rs113941605
|
|
NM_000256.3(MYBPC3):c.532G>A (p.Val178Met)
|
rs727503218
|
|
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp)
|
rs397516060
|
|
NM_000256.3(MYBPC3):c.588G>C (p.Trp196Cys)
|
rs727503215
|
|
NM_000256.3(MYBPC3):c.636C>G (p.Ser212Arg)
|
rs397516062
|
|
NM_000256.3(MYBPC3):c.654+5G>A
|
rs397516066
|
|
NM_000256.3(MYBPC3):c.821+3G>C
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.841C>A (p.Arg281=)
|
rs371711564
|
|
NM_000256.3(MYBPC3):c.852-10C>G
|
rs750425291
|
|
NM_000256.3(MYBPC3):c.852-1G>T
|
rs368121566
|
|
NM_000256.3(MYBPC3):c.853G>A (p.Asp285Asn)
|
rs727504523
|
|
NM_000256.3(MYBPC3):c.926+1_926+5del
|
rs1555122811
|
|
NM_000256.3(MYBPC3):c.926+4A>G
|
rs397516081
|
|
NM_000256.3(MYBPC3):c.931T>A (p.Ser311Thr)
|
rs397516084
|
|
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu)
|
rs193922386
|
|
NM_000257.4(MYH7):c.-7C>A
|
rs876657890
|
|
NM_000257.4(MYH7):c.1003G>T (p.Ala335Ser)
|
rs727503272
|
|
NM_000257.4(MYH7):c.1013T>C (p.Val338Ala)
|
rs397516087
|
|
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro)
|
rs397516089
|
|
NM_000257.4(MYH7):c.1129G>A (p.Gly377Ser)
|
rs773599095
|
|
NM_000257.4(MYH7):c.1132A>C (p.Thr378Pro)
|
rs397516090
|
|
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)
|
rs727504753
|
|
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg)
|
rs397516092
|
|
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu)
|
rs727503268
|
|
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn)
|
rs397516093
|
|
NM_000257.4(MYH7):c.1180G>C (p.Asp394His)
|
rs397516093
|
|
NM_000257.4(MYH7):c.1204C>A (p.Pro402Thr)
|
rs397516094
|
|
NM_000257.4(MYH7):c.1352A>C (p.Gln451Pro)
|
rs397516100
|
|
NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser)
|
rs121913625
|
|
NM_000257.4(MYH7):c.135G>T (p.Glu45Asp)
|
rs397516102
|
|
NM_000257.4(MYH7):c.137T>G (p.Phe46Cys)
|
rs397516104
|
|
NM_000257.4(MYH7):c.1402T>C (p.Phe468Leu)
|
rs727504338
|
|
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr)
|
rs397516106
|
|
NM_000257.4(MYH7):c.1426C>G (p.Leu476Val)
|
rs397516107
|
|
NM_000257.4(MYH7):c.1490A>G (p.Glu497Gly)
|
rs727504296
|
|
NM_000257.4(MYH7):c.1496A>G (p.Glu499Gly)
|
rs727504270
|
|
NM_000257.4(MYH7):c.1499A>C (p.Glu500Ala)
|
rs727504286
|
|
NM_000257.4(MYH7):c.1504A>G (p.Lys502Glu)
|
rs876657877
|
|
NM_000257.4(MYH7):c.1505_1516del (p.Lys502_Gly505del)
|
rs727504828
|
|
NM_000257.4(MYH7):c.1514G>T (p.Gly505Val)
|
rs397516109
|
|
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr)
|
rs397516110
|
|
NM_000257.4(MYH7):c.1541G>A (p.Gly514Asp)
|
rs397516111
|
|
NM_000257.4(MYH7):c.1562T>C (p.Ile521Thr)
|
rs727504328
|
|
NM_000257.4(MYH7):c.1570A>G (p.Ile524Val)
|
rs727504401
|
|
NM_000257.4(MYH7):c.1597A>G (p.Ile533Val)
|
rs397516113
|
|
NM_000257.4(MYH7):c.1598T>A (p.Ile533Asn)
|
rs397516114
|
|
NM_000257.4(MYH7):c.1612T>C (p.Cys538Arg)
|
rs397516116
|
|
NM_000257.4(MYH7):c.1640C>A (p.Thr547Asn)
|
rs876657878
|
|
NM_000257.4(MYH7):c.167G>C (p.Gly56Ala)
|
rs727504870
|
|
NM_000257.4(MYH7):c.1742A>G (p.His581Arg)
|
rs397516120
|
|
NM_000257.4(MYH7):c.1759G>A (p.Asp587Asn)
|
rs727504294
|
|
NM_000257.4(MYH7):c.1804A>G (p.Asn602Asp)
|
rs727505332
|
|
NM_000257.4(MYH7):c.1822T>G (p.Leu608Val)
|
rs1555338124
|
|
NM_000257.4(MYH7):c.1871A>G (p.Tyr624Cys)
|
rs727504291
|
|
NM_000257.4(MYH7):c.1957-15C>A
|
rs1555338036
|
|
NM_000257.4(MYH7):c.2093T>C (p.Val698Ala)
|
rs397516130
|
|
NM_000257.4(MYH7):c.2101G>A (p.Gly701Ser)
|
rs397516131
|
|
NM_000257.4(MYH7):c.2117G>C (p.Arg706Thr)
|
rs397516133
|
|
NM_000257.4(MYH7):c.2123G>T (p.Gly708Val)
|
rs397516134
|
|
NM_000257.4(MYH7):c.2129C>A (p.Pro710His)
|
rs727504272
|
|
NM_000257.4(MYH7):c.2129C>T (p.Pro710Leu)
|
rs727504272
|
|
NM_000257.4(MYH7):c.2147G>A (p.Gly716Glu)
|
rs1555337912
|
|
NM_000257.4(MYH7):c.2171T>A (p.Ile724Asn)
|
rs397516136
|
|
NM_000257.4(MYH7):c.2178C>A (p.Asn726Lys)
|
rs397516137
|
|
NM_000257.4(MYH7):c.2191C>G (p.Pro731Ala)
|
rs727504299
|
|
NM_000257.4(MYH7):c.2207T>A (p.Ile736Asn)
|
rs727503261
|
|
NM_000257.4(MYH7):c.2217G>T (p.Arg739Ser)
|
rs727504429
|
|
NM_000257.4(MYH7):c.2246T>A (p.Leu749Gln)
|
rs727504320
|
|
NM_000257.4(MYH7):c.2285A>G (p.Lys762Arg)
|
rs397516140
|
|
NM_000257.4(MYH7):c.2296A>C (p.Lys766Gln)
|
rs397516141
|
|
NM_000257.4(MYH7):c.2342T>C (p.Leu781Pro)
|
rs727503259
|
|
NM_000257.4(MYH7):c.2401T>A (p.Tyr801Asn)
|
rs397516145
|
|
NM_000257.4(MYH7):c.2424-12G>T
|
rs727503257
|
|
NM_000257.4(MYH7):c.2424-5T>C
|
rs397516146
|
|
NM_000257.4(MYH7):c.2432T>C (p.Leu811Pro)
|
rs727503256
|
|
NM_000257.4(MYH7):c.2462T>C (p.Phe821Ser)
|
rs397516148
|
|
NM_000257.4(MYH7):c.2470G>C (p.Val824Leu)
|
rs397516149
|
|
NM_000257.4(MYH7):c.2480G>T (p.Trp827Leu)
|
rs542565151
|
|
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His)
|
rs730880746
|
|
NM_000257.4(MYH7):c.2498A>G (p.Tyr833Cys)
|
rs727504546
|
|
NM_000257.4(MYH7):c.2504A>T (p.Lys835Met)
|
rs876657880
|
|
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn)
|
rs397516154
|
|
NM_000257.4(MYH7):c.2537A>G (p.Glu846Gly)
|
rs876657881
|
|
NM_000257.4(MYH7):c.2544G>C (p.Glu848Asp)
|
rs730880899
|
|
NM_000257.4(MYH7):c.2548G>A (p.Ala850Thr)
|
rs1060499880
|
|
NM_000257.4(MYH7):c.2572C>A (p.Arg858Ser)
|
rs2754158
|
|
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly)
|
rs2754158
|
|
NM_000257.4(MYH7):c.2620GAG[1] (p.Glu875del)
|
rs397516159
|
|
NM_000257.4(MYH7):c.2624AGA[1] (p.Lys876del)
|
rs727504368
|
|
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu)
|
rs727503254
|
|
NM_000257.4(MYH7):c.2683C>G (p.Gln895Glu)
|
rs397516162
|
|
NM_000257.4(MYH7):c.2692C>G (p.Leu898Val)
|
rs727504407
|
|
NM_000257.4(MYH7):c.2699A>G (p.Asp900Gly)
|
rs397516163
|
|
NM_000257.4(MYH7):c.2704G>A (p.Glu902Lys)
|
rs869130333
|
|
NM_000257.4(MYH7):c.2708A>G (p.Glu903Gly)
|
rs727504261
|
|
NM_000257.4(MYH7):c.2716G>A (p.Asp906Asn)
|
rs397516164
|
|
NM_000257.4(MYH7):c.2719C>A (p.Gln907Lys)
|
rs397516167
|
|
NM_000257.4(MYH7):c.2725A>G (p.Ile909Val)
|
rs397516168
|
|
NM_000257.4(MYH7):c.2742G>T (p.Gln914His)
|
rs727504404
|
|
NM_000257.4(MYH7):c.2746G>A (p.Glu916Lys)
|
rs397516169
|
|
NM_000257.4(MYH7):c.2783A>C (p.Asp928Ala)
|
rs727504558
|
|
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)
|
rs121913629
|
|
NM_000257.4(MYH7):c.2882T>C (p.Leu961Pro)
|
rs727504374
|
|
NM_000257.4(MYH7):c.28G>A (p.Gly10Arg)
|
rs199577321
|
|
NM_000257.4(MYH7):c.293A>T (p.Glu98Val)
|
rs727503279
|
|
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr)
|
rs730880154
|
|
NM_000257.4(MYH7):c.299C>T (p.Ala100Val)
|
rs876657882
|
|
NM_000257.4(MYH7):c.3055A>G (p.Thr1019Ala)
|
rs200714763
|
|
NM_000257.4(MYH7):c.3083A>G (p.Glu1028Gly)
|
rs397516177
|
|
NM_000257.4(MYH7):c.3235C>G (p.Arg1079Gly)
|
rs192722540
|
|
NM_000257.4(MYH7):c.3336+3G>A
|
rs397516180
|
|
NM_000257.4(MYH7):c.3370G>T (p.Ala1124Ser)
|
rs1041961
|
|
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr)
|
rs730880833
|
|
NM_000257.4(MYH7):c.3591_3592delinsAAGAAGC (p.Asp1198fs)
|
rs876657883
|
|
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)
|
rs727505026
|
|
NM_000257.4(MYH7):c.3626A>G (p.Asn1209Ser)
|
rs397516189
|
|
NM_000257.4(MYH7):c.3664A>G (p.Ser1222Gly)
|
rs727504647
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
|
NM_000257.4(MYH7):c.3880_3882del (p.Lys1294del)
|
rs1555336976
|
|
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln)
|
rs727505325
|
|
NM_000257.4(MYH7):c.3967G>A (p.Val1323Ile)
|
rs727503247
|
|
NM_000257.4(MYH7):c.3973-2A>T
|
rs397516197
|
|
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp)
|
rs727504352
|
|
NM_000257.4(MYH7):c.4036C>G (p.Gln1346Glu)
|
rs730880787
|
|
NM_000257.4(MYH7):c.4075C>A (p.Arg1359Ser)
|
rs45451303
|
|
NM_000257.4(MYH7):c.4136C>A (p.Ala1379Asp)
|
rs397516203
|
|
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe)
|
rs727504703
|
|
NM_000257.4(MYH7):c.4204G>A (p.Glu1402Lys)
|
rs727505025
|
|
NM_000257.4(MYH7):c.4208C>A (p.Ala1403Asp)
|
rs397516204
|
|
NM_000257.4(MYH7):c.4256A>G (p.His1419Arg)
|
rs397516206
|
|
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)
|
rs397516208
|
|
NM_000257.4(MYH7):c.431G>A (p.Gly144Asp)
|
rs730880834
|
|
NM_000257.4(MYH7):c.4330A>G (p.Lys1444Glu)
|
rs397516210
|
|
NM_000257.4(MYH7):c.4354-2A>C
|
rs727504734
|
|
NM_000257.4(MYH7):c.4354-7C>T
|
rs370093487
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
NM_000257.4(MYH7):c.4402G>C (p.Glu1468Gln)
|
rs876657884
|
|
NM_000257.4(MYH7):c.4408T>C (p.Ser1470Pro)
|
rs397516215
|
|
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter)
|
rs397516216
|
|
NM_000257.4(MYH7):c.4436C>T (p.Thr1479Ile)
|
rs397516217
|
|
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp)
|
rs730880911
|
|
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu)
|
rs730880837
|
|
NM_000257.4(MYH7):c.4537A>T (p.Thr1513Ser)
|
rs397516222
|
|
NM_000257.4(MYH7):c.4540G>A (p.Glu1514Lys)
|
rs397516223
|
|
NM_000257.4(MYH7):c.4663G>C (p.Glu1555Gln)
|
rs727505176
|
|
NM_000257.4(MYH7):c.4720C>T (p.Arg1574Trp)
|
rs397516227
|
|
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val)
|
rs397516229
|
|
NM_000257.4(MYH7):c.4838G>A (p.Arg1613Lys)
|
rs397516230
|
|
NM_000257.4(MYH7):c.487C>T (p.Gln163Ter)
|
rs727505011
|
|
NM_000257.4(MYH7):c.4900C>T (p.Arg1634Cys)
|
rs397516232
|
|
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)
|
rs370328209
|
|
NM_000257.4(MYH7):c.5015_5020del (p.Ala1672_Ile1673del)
|
rs397516234
|
|
NM_000257.4(MYH7):c.5067_5079delinsGGCCGTGGAAGAA (p.Val1692Glu)
|
rs727505033
|
|
NM_000257.4(MYH7):c.5110C>T (p.Gln1704Ter)
|
rs727504844
|
|
NM_000257.4(MYH7):c.5156A>G (p.Gln1719Arg)
|
rs727504403
|
|
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val)
|
rs397516240
|
|
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys)
|
rs397516241
|
|
NM_000257.4(MYH7):c.5302_5303delinsAT (p.Glu1768Met)
|
rs876657886
|
|
NM_000257.4(MYH7):c.531-3_531del
|
rs397516242
|
|
NM_000257.4(MYH7):c.5332C>T (p.His1778Tyr)
|
rs397516244
|
|
NM_000257.4(MYH7):c.5344A>G (p.Met1782Val)
|
rs727504385
|
|
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu)
|
rs397516247
|
|
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val)
|
rs730880817
|
|
NM_000257.4(MYH7):c.5469_5471delinsATG (p.Asn1824Cys)
|
rs1060499881
|
|
NM_000257.4(MYH7):c.560A>G (p.Asn187Ser)
|
rs397516249
|
|
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His)
|
rs727503240
|
|
NM_000257.4(MYH7):c.5696T>C (p.Val1899Ala)
|
rs727504384
|
|
NM_000257.4(MYH7):c.5762G>C (p.Arg1921Pro)
|
rs397516256
|
|
NM_000257.4(MYH7):c.610C>A (p.Arg204Ser)
|
rs397516259
|
|
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)
|
rs397516260
|
|
NM_000257.4(MYH7):c.671A>C (p.Asn224Thr)
|
rs727505148
|
|
NM_000257.4(MYH7):c.677C>T (p.Ala226Val)
|
rs876657887
|
|
NM_000257.4(MYH7):c.686C>T (p.Ala229Val)
|
rs876657888
|
|
NM_000257.4(MYH7):c.698C>T (p.Ala233Val)
|
rs727504362
|
|
NM_000257.4(MYH7):c.703A>G (p.Thr235Ala)
|
rs876657889
|
|
NM_000257.4(MYH7):c.707T>C (p.Val236Ala)
|
rs397516262
|
|
NM_000257.4(MYH7):c.710G>A (p.Arg237Gln)
|
rs397516263
|
|
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys)
|
rs730880921
|
|
NM_000257.4(MYH7):c.732+1del
|
rs397516266
|
|
NM_000257.4(MYH7):c.734G>A (p.Gly245Glu)
|
rs397516267
|
|
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys)
|
rs730880922
|
|
NM_000257.4(MYH7):c.742A>T (p.Ile248Phe)
|
rs727503275
|
|
NM_000257.4(MYH7):c.748A>G (p.Ile250Val)
|
rs397516268
|
|
NM_000257.4(MYH7):c.755T>C (p.Phe252Ser)
|
rs727505202
|
|
NM_000257.4(MYH7):c.830T>C (p.Leu277Pro)
|
rs727504297
|
|
NM_000257.4(MYH7):c.835G>A (p.Ala279Thr)
|
rs397516270
|
|
NM_000257.4(MYH7):c.844G>T (p.Asp282Tyr)
|
rs397516271
|
|
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys)
|
rs727503274
|
|
NM_000257.4(MYH7):c.854T>C (p.Ile285Thr)
|
rs1555338574
|
|
NM_000257.4(MYH7):c.859T>C (p.Tyr287His)
|
rs727503273
|
|
NM_000257.4(MYH7):c.872C>T (p.Ser291Phe)
|
rs397516272
|
|
NM_000257.4(MYH7):c.920C>T (p.Pro307Leu)
|
rs397516273
|
|
NM_000257.4(MYH7):c.953C>A (p.Thr318Asn)
|
rs397516274
|
|
NM_000257.4(MYH7):c.968T>A (p.Ile323Asn)
|
rs397516275
|
|
NM_000257.4(MYH7):c.991G>C (p.Ala331Pro)
|
rs397516276
|
|
NM_000258.3(MYL3):c.11A>G (p.Lys4Arg)
|
rs727503301
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000258.3(MYL3):c.184G>A (p.Asp62Asn)
|
rs730880954
|
|
NM_000258.3(MYL3):c.338C>T (p.Thr113Ile)
|
rs397516278
|
|
NM_000258.3(MYL3):c.446T>C (p.Met149Thr)
|
rs202141423
|
|
NM_000258.3(MYL3):c.452C>T (p.Ala151Val)
|
rs876657895
|
|
NM_000258.3(MYL3):c.466G>T (p.Val156Leu)
|
rs199474707
|
|
NM_000258.3(MYL3):c.482-1G>A
|
rs727503300
|
|
NM_000258.3(MYL3):c.520G>C (p.Ala174Pro)
|
rs397516279
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val)
|
rs782728522
|
|
NM_000260.4(MYO7A):c.1133G>C (p.Arg378Pro)
|
rs397516282
|
|
NM_000260.4(MYO7A):c.1374T>G (p.Asn458Lys)
|
rs782293740
|
|
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)
|
rs397516286
|
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
|
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro)
|
rs397516287
|
|
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)
|
rs782311929
|
|
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg)
|
rs797044514
|
|
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser)
|
rs387906699
|
|
NM_000260.4(MYO7A):c.2039A>G (p.Glu680Gly)
|
rs1555079057
|
|
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe)
|
rs1224881006
|
|
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys)
|
rs797044493
|
|
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro)
|
rs397516296
|
|
NM_000260.4(MYO7A):c.2636A>C (p.Lys879Thr)
|
rs1591374351
|
|
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu)
|
rs565162134
|
|
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu)
|
rs397516298
|
|
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg)
|
rs111033195
|
|
NM_000260.4(MYO7A):c.3656G>T (p.Gly1219Val)
|
rs1555090958
|
|
NM_000260.4(MYO7A):c.4084G>A (p.Val1362Met)
|
rs774773009
|
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756
|
|
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val)
|
rs727504594
|
|
NM_000260.4(MYO7A):c.4732G>A (p.Asp1578Asn)
|
rs778007315
|
|
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile)
|
rs1591467534
|
|
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr)
|
rs762131185
|
|
NM_000260.4(MYO7A):c.5486_5487delinsTT (p.Ser1829Ile)
|
rs1957384051
|
|
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp)
|
rs748080151
|
|
NM_000260.4(MYO7A):c.5497G>C (p.Gly1833Arg)
|
rs1367496020
|
|
NM_000260.4(MYO7A):c.5504A>G (p.Glu1835Gly)
|
rs727503331
|
|
NM_000260.4(MYO7A):c.5600C>T (p.Ala1867Val)
|
rs876657914
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr)
|
rs397516325
|
|
NM_000260.4(MYO7A):c.6243C>A (p.Ile2081=)
|
rs727504834
|
|
NM_000260.4(MYO7A):c.6356A>C (p.Gln2119Pro)
|
rs1029122324
|
|
NM_000260.4(MYO7A):c.6475A>G (p.Asn2159Asp)
|
rs1555111106
|
|
NM_000260.4(MYO7A):c.652G>C (p.Asp218His)
|
rs201539845
|
|
NM_000260.4(MYO7A):c.6577C>T (p.Leu2193Phe)
|
rs397516333
|
|
NM_000262.3(NAGA):c.1097_1098del (p.Ile365_Tyr366insTer)
|
rs1602490557
|
|
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del)
|
rs1555641909
|
|
NM_000278.5(PAX2):c.44-12_44-8dup
|
rs1845364215
|
|
NM_000307.5(POU3F4):c.924CTC[1] (p.Ser310del)
|
rs111033340
|
|
NM_000307.5(POU3F4):c.964G>A (p.Val322Met)
|
rs111033291
|
|
NM_000307.5(POU3F4):c.967C>T (p.Arg323Cys)
|
rs104894924
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000335.5(SCN5A):c.1050C>G (p.His350Gln)
|
rs587781160
|
|
NM_000335.5(SCN5A):c.1237G>T (p.Ala413Ser)
|
rs199473110
|
|
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)
|
rs397517953
|
|
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr)
|
rs756474485
|
|
NM_000335.5(SCN5A):c.2240A>C (p.Glu747Ala)
|
rs747324991
|
|
NM_000335.5(SCN5A):c.2647G>A (p.Asp883Asn)
|
rs727505351
|
|
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile)
|
rs199473054
|
|
NM_000335.5(SCN5A):c.2894G>A (p.Arg965His)
|
rs199473181
|
|
NM_000335.5(SCN5A):c.2990C>A (p.Ala997Asp)
|
rs727503408
|
|
NM_000335.5(SCN5A):c.2999_3001del (p.Gln1000del)
|
rs748297358
|
|
NM_000335.5(SCN5A):c.3229-13G>A
|
rs1575757490
|
|
NM_000335.5(SCN5A):c.3844C>A (p.Leu1282Met)
|
rs199473216
|
|
NM_000335.5(SCN5A):c.4296+6T>A
|
rs794728934
|
|
NM_000335.5(SCN5A):c.4348G>C (p.Val1450Leu)
|
rs876657996
|
|
NM_000335.5(SCN5A):c.4464G>T (p.Glu1488Asp)
|
rs199473616
|
|
NM_000335.5(SCN5A):c.5006T>C (p.Ile1669Thr)
|
rs397517955
|
|
NM_000335.5(SCN5A):c.703+6A>G
|
rs781104838
|
|
NM_000337.6(SGCD):c.383-11A>T
|
rs727504584
|
|
NM_000337.6(SGCD):c.839C>A (p.Ser280Tyr)
|
rs397516337
|
|
NM_000363.5(TNNI3):c.109-15A>G
|
rs779144176
|
|
NM_000363.5(TNNI3):c.127G>T (p.Ala43Ser)
|
rs727505023
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
NM_000363.5(TNNI3):c.258del (p.Leu88fs)
|
rs727503507
|
|
NM_000363.5(TNNI3):c.401A>G (p.Asp134Gly)
|
rs727503505
|
|
NM_000363.5(TNNI3):c.462G>A (p.Met154Ile)
|
rs397516350
|
|
NM_000363.5(TNNI3):c.488C>T (p.Ala163Val)
|
rs727504367
|
|
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)
|
rs727503504
|
|
NM_000363.5(TNNI3):c.525G>C (p.Gln175His)
|
rs727503502
|
|
NM_000363.5(TNNI3):c.526G>A (p.Val176Met)
|
rs727503501
|
|
NM_000363.5(TNNI3):c.538del (p.Asp180fs)
|
rs876658023
|
|
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)
|
rs1060499912
|
|
NM_000363.5(TNNI3):c.559G>A (p.Glu187Lys)
|
rs727505069
|
|
NM_000363.5(TNNI3):c.579G>C (p.Lys193Asn)
|
rs397516358
|
|
NM_000363.5(TNNI3):c.583A>C (p.Ile195Leu)
|
rs876658024
|
|
NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr)
|
rs104894727
|
|
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val)
|
rs397516359
|
|
NM_000363.5(TNNI3):c.613A>C (p.Lys205Gln)
|
rs727505331
|
|
NM_000363.5(TNNI3):c.622T>A (p.Phe208Ile)
|
rs876658025
|
|
NM_000363.5(TNNI3):c.624T>G (p.Phe208Leu)
|
rs876658026
|
|
NM_000363.5(TNNI3):c.625G>A (p.Glu209Lys)
|
rs727504268
|
|
NM_000363.5(TNNI3):c.65G>A (p.Arg22His)
|
rs397516360
|
|
NM_000363.5(TNNI3):c.79C>G (p.Arg27Gly)
|
rs1555864366
|
|
NM_000363.5(TNNI3):c.85T>G (p.Tyr29Asp)
|
rs727503510
|
|
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
|
rs876658108
|
|
NM_000384.3(APOB):c.10556C>T (p.Thr3519Ile)
|
rs746951119
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
|
|
|
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
|
|
|
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
|
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
|
|
NM_000395.3(CSF2RB):c.2124del (p.Ser709fs)
|
rs568607741
|
|
NM_000414.4(HSD17B4):c.1126A>G (p.Thr376Ala)
|
rs1750955154
|
|
NM_000414.4(HSD17B4):c.643C>T (p.Pro215Ser)
|
rs552078818
|
|
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys)
|
rs727503299
|
|
NM_000432.4(MYL2):c.119G>T (p.Arg40Met)
|
rs727503299
|
|
NM_000432.4(MYL2):c.142G>T (p.Asp48Tyr)
|
rs727504405
|
|
NM_000432.4(MYL2):c.275G>T (p.Gly92Val)
|
rs727503297
|
|
NM_000432.4(MYL2):c.313G>A (p.Val105Met)
|
rs397516401
|
|
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp)
|
rs397516404
|
|
NM_000432.4(MYL2):c.389T>G (p.Phe130Cys)
|
rs727505071
|
|
NM_000432.4(MYL2):c.392C>G (p.Ser131Cys)
|
rs727504357
|
|
NM_000432.4(MYL2):c.402G>C (p.Glu134Asp)
|
rs727504408
|
|
NM_000432.4(MYL2):c.403-1G>T
|
rs199474813
|
|
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr)
|
rs727504559
|
|
NM_000432.4(MYL2):c.45_46delinsT (p.Asn16fs)
|
rs727504300
|
|
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr)
|
rs1060499882
|
|
NM_000432.4(MYL2):c.82G>A (p.Glu28Lys)
|
rs397516409
|
|
NM_000432.4(MYL2):c.84A>T (p.Glu28Asp)
|
rs397516410
|
|
NM_000441.2(SLC26A4):c.1002-12A>G
|
rs1554358492
|
|
NM_000441.2(SLC26A4):c.1253G>A (p.Gly418Glu)
|
rs727505087
|
|
NM_000441.2(SLC26A4):c.1283C>T (p.Ala428Val)
|
rs727504824
|
|
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del)
|
rs111033207
|
|
NM_000441.2(SLC26A4):c.1570A>C (p.Ile524Leu)
|
rs1163642957
|
|
NM_000441.2(SLC26A4):c.1592A>C (p.Lys531Thr)
|
rs111033191
|
|
NM_000441.2(SLC26A4):c.1698C>G (p.Ile566Met)
|
rs111033375
|
|
NM_000441.2(SLC26A4):c.1920G>C (p.Trp640Cys)
|
rs368119540
|
|
NM_000441.2(SLC26A4):c.1969A>T (p.Ser657Cys)
|
rs876658003
|
|
NM_000441.2(SLC26A4):c.2063T>C (p.Val688Ala)
|
rs727503429
|
|
NM_000441.2(SLC26A4):c.2090A>C (p.Asp697Ala)
|
rs111033443
|
|
NM_000441.2(SLC26A4):c.209C>T (p.Pro70Leu)
|
rs111033413
|
|
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn)
|
rs145805875
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys)
|
rs764791809
|
|
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly)
|
rs111033344
|
|
NM_000441.2(SLC26A4):c.521C>G (p.Thr174Ser)
|
rs876658004
|
|
NM_000455.5(STK11):c.1258G>A (p.Ala420Thr)
|
rs762482152
|
|
NM_000455.5(STK11):c.143A>G (p.Lys48Arg)
|
rs766776431
|
|
NM_000455.5(STK11):c.838_839delinsGT (p.Pro280Val)
|
rs786205863
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
|
rs35350960
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)
|
rs1800097
|
|
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn)
|
rs150683293
|
|
NM_000501.4(ELN):c.1415-9A>G
|
rs727503032
|
|
NM_000501.4(ELN):c.469+5G>C
|
rs727503025
|
|
NM_000501.4(ELN):c.685+1_685+5dup
|
rs876657806
|
|
NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg)
|
rs727503047
|
|
NM_000503.6(EYA1):c.1295G>A (p.Arg432Lys)
|
rs727503046
|
|
NM_000503.6(EYA1):c.1360+2C>T
|
rs727503045
|
|
NM_000503.6(EYA1):c.1402A>G (p.Arg468Gly)
|
rs727503044
|
|
NM_000503.6(EYA1):c.470C>T (p.Ser157Leu)
|
rs1586333305
|
|
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg)
|
rs200923204
|
|
NM_000503.6(EYA1):c.88A>G (p.Ile30Val)
|
rs1554565600
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)
|
rs139361635
|
|
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)
|
rs137853960
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)
|
rs879255220
|
|
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp)
|
rs879254498
|
|
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr)
|
rs879254604
|
|
NM_000535.7(PMS2):c.1304A>C (p.His435Pro)
|
rs1554297915
|
|
NM_000535.7(PMS2):c.1378G>C (p.Gly460Arg)
|
rs1554297825
|
|
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu)
|
rs1554295980
|
|
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr)
|
rs1554294462
|
|
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu)
|
rs1402108044
|
|
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys)
|
rs587781358
|
|
NM_000540.3(RYR1):c.4411G>T (p.Val1471Leu)
|
rs767558988
|
|
NM_000540.3(RYR1):c.8156A>T (p.Tyr2719Phe)
|
rs1555785252
|
|
NM_000540.3(RYR1):c.957+5_957+29del
|
rs794726982
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000545.8(HNF1A):c.539C>T (p.Ala180Val)
|
rs1060499866
|
|
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)
|
rs397516434
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.718_741del (p.Ser240_Asn247del)
|
rs397516437
|
|
NM_000546.6(TP53):c.758C>A (p.Thr253Asn)
|
rs1555525465
|
|
NM_000546.6(TP53):c.85AAC[1] (p.Asn30del)
|
rs587782270
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu)
|
rs368878445
|
|
NM_000548.5(TSC2):c.593T>C (p.Met198Thr)
|
rs45517114
|
|
NM_000551.4(VHL):c.-61_-51dup
|
rs727503743
|
|
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
|
rs373068386
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000601.6(HGF):c.1454T>C (p.Ile485Thr)
|
rs397516446
|
|
NM_000601.6(HGF):c.754G>C (p.Asp252His)
|
rs752123971
|
|
NM_000601.6(HGF):c.983G>T (p.Arg328Leu)
|
rs374484762
|
|
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs)
|
rs771708175
|
|
NM_000888.5(ITGB6):c.676del (p.Ile226fs)
|
rs1179156887
|
|
NM_000899.5(KITLG):c.15+2T>A
|
rs1592593751
|
|
NM_001004334.4(GPR179):c.3138_3139del (p.Glu1046fs)
|
rs776189685
|
|
NM_001005242.3(PKP2):c.1034+4del
|
rs397516983
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.1170+4_1170+7del
|
rs397516988
|
|
NM_001005242.3(PKP2):c.1379-2049A>G
|
rs727505257
|
|
NM_001005242.3(PKP2):c.1448T>C (p.Leu483Pro)
|
rs397517000
|
|
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg)
|
rs770694213
|
|
NM_001005242.3(PKP2):c.1648A>G (p.Ile550Val)
|
rs727503371
|
|
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe)
|
rs397517018
|
|
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)
|
rs397517016
|
|
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu)
|
rs397517019
|
|
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg)
|
rs145553222
|
|
NM_001005242.3(PKP2):c.2422G>A (p.Glu808Lys)
|
rs727505312
|
|
NM_001005242.3(PKP2):c.2445+1G>A
|
rs1060499891
|
|
NM_001005242.3(PKP2):c.2446-10dup
|
rs397517024
|
|
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)
|
rs202094467
|
|
NM_001005242.3(PKP2):c.811G>A (p.Val271Ile)
|
rs876657953
|
|
NM_001006630.2(CHRM2):c.52_54del (p.Tyr18del)
|
rs876657763
|
|
NM_001006630.2(CHRM2):c.794C>T (p.Ala265Val)
|
rs1554437349
|
|
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu)
|
rs75282758
|
|
NM_001015878.2(AURKC):c.94_101dup (p.Met35fs)
|
rs749123022
|
|
NM_001018005.2(TPM1):c.*5_*8del
|
rs786204415
|
|
NM_001018005.2(TPM1):c.14AGA[4] (p.Lys7dup)
|
rs730881155
|
|
NM_001018005.2(TPM1):c.240+1G>A
|
rs730881146
|
|
NM_001018005.2(TPM1):c.240+4426G>T
|
rs1060499913
|
|
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu)
|
rs369617788
|
|
NM_001018005.2(TPM1):c.2del (p.Met1fs)
|
rs397516366
|
|
NM_001018005.2(TPM1):c.305C>A (p.Ala102Asp)
|
rs397516367
|
|
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys)
|
rs727504313
|
|
NM_001018005.2(TPM1):c.364G>A (p.Glu122Lys)
|
rs876658031
|
|
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr)
|
rs727503517
|
|
NM_001018005.2(TPM1):c.424G>A (p.Glu142Lys)
|
rs1555408649
|
|
NM_001018005.2(TPM1):c.458A>G (p.His153Arg)
|
rs727505043
|
|
NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn)
|
rs199476301
|
|
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val)
|
rs1555408679
|
|
NM_001018005.2(TPM1):c.533G>A (p.Arg178His)
|
rs397516375
|
|
NM_001018005.2(TPM1):c.563+249C>T
|
rs397516379
|
|
NM_001018005.2(TPM1):c.563+254A>G
|
rs397516380
|
|
NM_001018005.2(TPM1):c.563+308A>C
|
rs1555409301
|
|
NM_001018005.2(TPM1):c.563_563+1insCCAA
|
rs1060499914
|
|
NM_001018005.2(TPM1):c.58G>A (p.Asp20Asn)
|
rs727504391
|
|
NM_001018005.2(TPM1):c.632C>G (p.Ala211Gly)
|
rs397516487
|
|
NM_001018005.2(TPM1):c.676A>C (p.Lys226Gln)
|
rs397516383
|
|
NM_001018005.2(TPM1):c.692A>G (p.Lys231Arg)
|
rs397516385
|
|
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp)
|
rs397516386
|
|
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val)
|
rs397516387
|
|
NM_001018005.2(TPM1):c.734C>T (p.Ser245Leu)
|
rs397516388
|
|
NM_001018005.2(TPM1):c.762T>G (p.Asp254Glu)
|
rs727504354
|
|
NM_001018005.2(TPM1):c.775G>A (p.Glu259Lys)
|
rs397516389
|
|
NM_001018005.2(TPM1):c.790A>G (p.Lys264Glu)
|
rs397516390
|
|
NM_001018005.2(TPM1):c.802A>G (p.Lys268Glu)
|
rs1555410433
|
|
NM_001018005.2(TPM1):c.815A>C (p.Glu272Ala)
|
rs727503519
|
|
NM_001018005.2(TPM1):c.830C>G (p.Ala277Gly)
|
rs199476320
|
|
NM_001018005.2(TPM1):c.835A>C (p.Asn279His)
|
rs397516392
|
|
NM_001018005.2(TPM1):c.851+15A>G
|
rs876658030
|
|
NM_001018005.2(TPM1):c.97G>A (p.Glu33Lys)
|
rs397516397
|
|
NM_001018116.2(CAVIN4):c.168G>C (p.Glu56Asp)
|
rs947295697
|
|
NM_001031679.3(MSRB3):c.310G>A (p.Asp104Asn)
|
rs727503162
|
|
NM_001032283.3(TMPO):c.565+2296C>T
|
rs397516843
|
|
NM_001032283.3(TMPO):c.565+2461_565+2463del
|
rs727503491
|
|
NM_001032283.3(TMPO):c.77C>T (p.Thr26Met)
|
rs397516494
|
|
NM_001032283.3(TMPO):c.991-14_991-11del
|
rs397516495
|
|
NM_001034853.2(RPGR):c.2254del (p.Glu752fs)
|
rs1060499897
|
|
NM_001034853.2(RPGR):c.2956_2957insA (p.Gly986fs)
|
rs1060499896
|
|
NM_001035.2(RYR2):c.(?_49)_(168_?)del
|
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
NM_001035.3(RYR2):c.10127T>A (p.Phe3376Tyr)
|
rs876657983
|
|
NM_001035.3(RYR2):c.10325C>T (p.Ala3442Val)
|
rs727503403
|
|
NM_001035.3(RYR2):c.10427T>C (p.Ile3476Thr)
|
rs764621718
|
|
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser)
|
rs201749277
|
|
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys)
|
rs201749277
|
|
NM_001035.3(RYR2):c.11217G>T (p.Met3739Ile)
|
rs397516502
|
|
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)
|
rs397516504
|
|
NM_001035.3(RYR2):c.11457G>A (p.Met3819Ile)
|
rs727503405
|
|
NM_001035.3(RYR2):c.1197G>A (p.Met399Ile)
|
rs727503397
|
|
NM_001035.3(RYR2):c.12139G>C (p.Asp4047His)
|
rs727505103
|
|
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)
|
rs397516510
|
|
NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser)
|
rs397516511
|
|
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly)
|
rs397516513
|
|
NM_001035.3(RYR2):c.14440A>G (p.Met4814Val)
|
rs397516516
|
|
NM_001035.3(RYR2):c.14464C>G (p.Arg4822Gly)
|
rs876657986
|
|
NM_001035.3(RYR2):c.14591-9del
|
rs876657987
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
NM_001035.3(RYR2):c.1837G>A (p.Val613Ile)
|
rs397516520
|
|
NM_001035.3(RYR2):c.2334G>A (p.Met778Ile)
|
rs397516521
|
|
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala)
|
rs754520058
|
|
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile)
|
rs727505044
|
|
NM_001035.3(RYR2):c.281A>T (p.Asp94Val)
|
rs876657989
|
|
NM_001035.3(RYR2):c.2881G>T (p.Val961Leu)
|
rs876657990
|
|
NM_001035.3(RYR2):c.308A>C (p.Lys103Thr)
|
rs727505209
|
|
NM_001035.3(RYR2):c.3128A>G (p.Lys1043Arg)
|
rs727504939
|
|
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly)
|
rs149760466
|
|
NM_001035.3(RYR2):c.3656A>C (p.Lys1219Thr)
|
rs727505149
|
|
NM_001035.3(RYR2):c.4240C>T (p.Arg1414Trp)
|
rs868750680
|
|
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe)
|
rs749434532
|
|
NM_001035.3(RYR2):c.5005A>G (p.Asn1669Asp)
|
rs397516538
|
|
NM_001035.3(RYR2):c.5485C>G (p.Leu1829Val)
|
rs876657991
|
|
NM_001035.3(RYR2):c.5543C>T (p.Pro1848Leu)
|
rs397516543
|
|
NM_001035.3(RYR2):c.5609T>G (p.Val1870Gly)
|
rs1553522588
|
|
NM_001035.3(RYR2):c.5639A>T (p.Glu1880Val)
|
rs727504792
|
|
NM_001035.3(RYR2):c.570G>T (p.Arg190Ser)
|
rs397516544
|
|
NM_001035.3(RYR2):c.6250A>G (p.Met2084Val)
|
rs1553531464
|
|
NM_001035.3(RYR2):c.6380G>A (p.Arg2127Gln)
|
rs397516547
|
|
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)
|
rs727503401
|
|
NM_001035.3(RYR2):c.7513-8T>G
|
rs727503402
|
|
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val)
|
rs752607318
|
|
NM_001035.3(RYR2):c.8209-7_8209-4del
|
rs876657992
|
|
NM_001035.3(RYR2):c.8342C>G (p.Thr2781Ser)
|
rs369963696
|
|
NM_001035.3(RYR2):c.8426A>C (p.Gln2809Pro)
|
rs397516551
|
|
NM_001035.3(RYR2):c.9129-10T>A
|
rs876657993
|
|
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe)
|
rs397516552
|
|
NM_001037.5(SCN1B):c.448+129G>T
|
rs1060499899
|
|
NM_001037.5(SCN1B):c.67del (p.Glu23fs)
|
rs1060499898
|
|
NM_001038603.3(MARVELD2):c.1286C>T (p.Pro429Leu)
|
rs1554047535
|
|
NM_001038603.3(MARVELD2):c.919G>A (p.Ala307Thr)
|
rs779068129
|
|
NM_001039141.3(TRIOBP):c.111C>G (p.Tyr37Ter)
|
rs876658035
|
|
NM_001039141.3(TRIOBP):c.202A>T (p.Thr68Ser)
|
rs200529550
|
|
NM_001039141.3(TRIOBP):c.3948G>A (p.Arg1316=)
|
rs876658036
|
|
NM_001039141.3(TRIOBP):c.4703C>G (p.Ala1568Gly)
|
rs569914227
|
|
NM_001039141.3(TRIOBP):c.5117A>G (p.Glu1706Gly)
|
rs727503522
|
|
NM_001039141.3(TRIOBP):c.5193G>C (p.Lys1731Asn)
|
rs1207596715
|
|
NM_001039141.3(TRIOBP):c.5890C>G (p.Arg1964Gly)
|
rs565618931
|
|
NM_001039141.3(TRIOBP):c.5936T>C (p.Leu1979Pro)
|
rs727503524
|
|
NM_001039141.3(TRIOBP):c.6205G>A (p.Glu2069Lys)
|
rs777449279
|
|
NM_001039141.3(TRIOBP):c.6324+214G>A
|
rs1601661052
|
|
NM_001039213.4(CEACAM16):c.35G>A (p.Ser12Asn)
|
rs1040792995
|
|
NM_001039213.4(CEACAM16):c.626T>A (p.Val209Asp)
|
rs876657762
|
|
NM_001039876.3(SYNE4):c.1025A>G (p.Asn342Ser)
|
rs200948076
|
|
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser)
|
rs4795581
|
|
NM_001042492.3(NF1):c.2410-12T>C
|
rs876657932
|
|
NM_001042492.3(NF1):c.4624C>G (p.Leu1542Val)
|
rs1555619011
|
|
NM_001042492.3(NF1):c.4835G>T (p.Arg1612Met)
|
rs1555619423
|
|
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met)
|
rs1555533607
|
|
NM_001042492.3(NF1):c.6161T>A (p.Met2054Lys)
|
rs1555534665
|
|
NM_001042492.3(NF1):c.6617C>T (p.Thr2206Ile)
|
rs1555534885
|
|
NM_001042492.3(NF1):c.6921+10G>A
|
rs767166725
|
|
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe)
|
rs786202579
|
|
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)
|
rs876657933
|
|
NM_001042492.3(NF1):c.839T>C (p.Ile280Thr)
|
rs1555608976
|
|
NM_001042545.2(LTBP4):c.1427-13C>G
|
rs727505005
|
|
NM_001042545.2(LTBP4):c.4018C>T (p.Pro1340Ser)
|
rs370767377
|
|
NM_001042545.2(LTBP4):c.4441T>C (p.Cys1481Arg)
|
rs876657866
|
|
NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup)
|
rs1220133830
|
|
NM_001042702.5(PJVK):c.1A>G (p.Met1Val)
|
rs1697832820
|
|
NM_001042702.5(PJVK):c.478A>G (p.Met160Val)
|
rs757161569
|
|
NM_001042702.5(PJVK):c.683C>T (p.Ser228Leu)
|
rs727504604
|
|
NM_001042702.5(PJVK):c.983G>A (p.Cys328Tyr)
|
rs727504487
|
|
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe)
|
rs763862261
|
|
NM_001048174.2(MUTYH):c.115+2_115+3dup
|
rs1553131287
|
|
NM_001048174.2(MUTYH):c.203T>A (p.Phe68Tyr)
|
rs750954949
|
|
NM_001048174.2(MUTYH):c.524G>C (p.Arg175Pro)
|
rs538383136
|
|
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala)
|
rs587782351
|
|
NM_001048174.2(MUTYH):c.827G>A (p.Ser276Asn)
|
rs1553127574
|
|
NM_001048174.2(MUTYH):c.901G>T (p.Val301Leu)
|
rs147718169
|
|
NM_001079.4(ZAP70):c.1409T>G (p.Val470Gly)
|
rs1060499918
|
|
NM_001079668.3(NKX2-1):c.584G>A (p.Arg195Gln)
|
rs1555349228
|
|
NM_001079866.2(BCS1L):c.373G>A (p.Asp125Asn)
|
rs1553596645
|
|
NM_001080476.3(GRXCR1):c.58A>G (p.Ile20Val)
|
rs1746274698
|
|
NM_001080476.3(GRXCR1):c.785G>T (p.Arg262Leu)
|
rs146696590
|
|
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)
|
rs141621969
|
|
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro)
|
rs121909185
|
|
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter)
|
rs765669597
|
|
NM_001101648.2(NPC1L1):c.3086T>A (p.Leu1029Gln)
|
rs1060499885
|
|
NM_001103.4(ACTN2):c.1108-10A>G
|
rs397516564
|
|
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val)
|
rs566860712
|
|
NM_001103.4(ACTN2):c.1361A>C (p.His454Pro)
|
rs727505063
|
|
NM_001103.4(ACTN2):c.1381A>G (p.Ile461Val)
|
rs876657742
|
|
NM_001103.4(ACTN2):c.1411C>G (p.Leu471Val)
|
rs397516568
|
|
NM_001103.4(ACTN2):c.1460G>T (p.Cys487Phe)
|
rs727504619
|
|
NM_001103.4(ACTN2):c.1593G>A (p.Trp531Ter)
|
rs397516570
|
|
NM_001103.4(ACTN2):c.1839+5G>C
|
rs797045081
|
|
NM_001103.4(ACTN2):c.1975-6C>A
|
rs201255023
|
|
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu)
|
rs397516577
|
|
NM_001103.4(ACTN2):c.343G>A (p.Val115Met)
|
rs397516579
|
|
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr)
|
rs727505146
|
|
NM_001103.4(ACTN2):c.578_583del (p.191HR[1])
|
rs397516581
|
|
NM_001103.4(ACTN2):c.655G>A (p.Ala219Thr)
|
rs1246542277
|
|
NM_001103.4(ACTN2):c.736A>G (p.Met246Val)
|
rs397516582
|
|
NM_001103.4(ACTN2):c.826A>G (p.Asn276Asp)
|
rs876657743
|
|
NM_001103.4(ACTN2):c.829C>G (p.Gln277Glu)
|
rs1553302181
|
|
NM_001105206.3(LAMA4):c.1551+5A>G
|
rs1554342189
|
|
NM_001105206.3(LAMA4):c.1922C>G (p.Ala641Gly)
|
rs397516718
|
|
NM_001105206.3(LAMA4):c.195+4_195+5del
|
rs397516719
|
|
NM_001105206.3(LAMA4):c.2640G>T (p.Gln880His)
|
rs397516725
|
|
NM_001105206.3(LAMA4):c.2758G>A (p.Asp920Asn)
|
rs727503112
|
|
NM_001105206.3(LAMA4):c.3434A>G (p.Asn1145Ser)
|
rs377528058
|
|
NM_001105206.3(LAMA4):c.3515A>G (p.Asp1172Gly)
|
rs1554330855
|
|
NM_001105206.3(LAMA4):c.4446T>G (p.Phe1482Leu)
|
rs397516730
|
|
NM_001105206.3(LAMA4):c.4455A>C (p.Leu1485Phe)
|
rs1554326282
|
|
NM_001105206.3(LAMA4):c.4683_4684del (p.Arg1562fs)
|
rs1554325284
|
|
NM_001105206.3(LAMA4):c.4696C>T (p.Arg1566Ter)
|
rs1554325261
|
|
NM_001105206.3(LAMA4):c.5267G>A (p.Gly1756Glu)
|
rs782244308
|
|
NM_001110219.3(GJB6):c.60_61delinsT (p.Lys22fs)
|
rs397517206
|
|
NM_001110219.3(GJB6):c.689dup (p.Asn230fs)
|
rs398124237
|
|
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)
|
rs1060501425
|
|
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile)
|
rs727503038
|
|
NM_001122606.1(LAMP2):c.(?_1094)_(1236_?)del
|
|
|
NM_001127217.3(SMAD9):c.995_996del (p.Ile332fs)
|
rs1375423378
|
|
NM_001127453.2(GSDME):c.1213G>A (p.Gly405Ser)
|
rs566450742
|
|
NM_001127453.2(GSDME):c.1355T>C (p.Phe452Ser)
|
rs727502953
|
|
NM_001127453.2(GSDME):c.212-6T>A
|
rs876657773
|
|
NM_001127453.2(GSDME):c.938T>C (p.Ile313Thr)
|
rs1584052885
|
|
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg)
|
rs373787249
|
|
NM_001127511.3(APC):c.137C>T (p.Thr46Ile)
|
rs1016971418
|
|
NM_001128228.3(TPRN):c.1730_1732del (p.Lys577del)
|
rs769707569
|
|
NM_001128228.3(TPRN):c.2074-5T>C
|
rs1564383004
|
|
NM_001128228.3(TPRN):c.2083G>A (p.Ala695Thr)
|
rs876658034
|
|
NM_001128840.3(CACNA1D):c.1508G>A (p.Arg503Gln)
|
rs941177114
|
|
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr)
|
rs147933585
|
|
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser)
|
rs147146258
|
|
NM_001128840.3(CACNA1D):c.4624G>C (p.Gly1542Arg)
|
rs766813584
|
|
NM_001128840.3(CACNA1D):c.5408+4del
|
rs1553687972
|
|
NM_001128840.3(CACNA1D):c.6044G>C (p.Ser2015Thr)
|
rs766889110
|
|
NM_001128840.3(CACNA1D):c.6050C>T (p.Pro2017Leu)
|
rs876657749
|
|
NM_001128840.3(CACNA1D):c.74A>G (p.Asn25Ser)
|
rs1415040812
|
|
NM_001134363.3(RBM20):c.-16G>T
|
rs876657975
|
|
NM_001134363.3(RBM20):c.1051G>C (p.Asp351His)
|
rs372999896
|
|
NM_001134363.3(RBM20):c.1190A>C (p.His397Pro)
|
rs727505262
|
|
NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser)
|
rs1554886574
|
|
NM_001134363.3(RBM20):c.1516G>A (p.Val506Met)
|
rs1590677676
|
|
NM_001134363.3(RBM20):c.1519G>A (p.Gly507Arg)
|
rs727503386
|
|
NM_001134363.3(RBM20):c.1769T>A (p.Met590Lys)
|
rs794729147
|
|
NM_001134363.3(RBM20):c.1779A>T (p.Arg593Ser)
|
rs876657973
|
|
NM_001134363.3(RBM20):c.2161G>T (p.Ala721Ser)
|
rs876657976
|
|
NM_001134363.3(RBM20):c.2183_2185del (p.Glu728del)
|
rs876657977
|
|
NM_001134363.3(RBM20):c.2286dup (p.Glu763fs)
|
rs876657978
|
|
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)
|
rs397516603
|
|
NM_001134363.3(RBM20):c.2723T>C (p.Leu908Pro)
|
rs397516604
|
|
NM_001134363.3(RBM20):c.2727_2741del (p.Thr910_Val914del)
|
rs876657979
|
|
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro)
|
rs397516606
|
|
NM_001134363.3(RBM20):c.2855C>T (p.Thr952Ile)
|
rs727503390
|
|
NM_001134363.3(RBM20):c.3031G>A (p.Ala1011Thr)
|
rs727503391
|
|
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys)
|
rs727504583
|
|
NM_001134363.3(RBM20):c.441C>A (p.His147Gln)
|
rs397516619
|
|
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg)
|
rs183130427
|
|
NM_001134363.3(RBM20):c.56C>G (p.Pro19Arg)
|
rs727504766
|
|
NM_001134363.3(RBM20):c.746G>T (p.Gly249Val)
|
rs397516623
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001145809.2(MYH14):c.1095C>A (p.Phe365Leu)
|
rs727505251
|
|
NM_001145809.2(MYH14):c.1217A>G (p.Gln406Arg)
|
rs552730148
|
|
NM_001145809.2(MYH14):c.1382G>A (p.Arg461His)
|
rs370353590
|
|
NM_001145809.2(MYH14):c.2000C>A (p.Pro667Gln)
|
rs530921955
|
|
NM_001145809.2(MYH14):c.2018G>A (p.Cys673Tyr)
|
rs2034551985
|
|
NM_001145809.2(MYH14):c.2667C>G (p.His889Gln)
|
rs876657872
|
|
NM_001145809.2(MYH14):c.2900C>G (p.Thr967Arg)
|
rs142134135
|
|
NM_001145809.2(MYH14):c.3467+1G>A
|
rs727503223
|
|
NM_001145809.2(MYH14):c.3571G>T (p.Ala1191Ser)
|
rs776570317
|
|
NM_001145809.2(MYH14):c.563-3C>G
|
rs1555755418
|
|
NM_001145809.2(MYH14):c.5959C>T (p.Arg1987Ter)
|
rs727503230
|
|
NM_001145809.2(MYH14):c.5960+4T>C
|
rs1555779636
|
|
NM_001145809.2(MYH14):c.5995C>A (p.Arg1999Ser)
|
rs1375906074
|
|
NM_001145809.2(MYH14):c.949G>A (p.Gly317Arg)
|
rs727503222
|
|
NM_001146079.2(CLDN14):c.337G>A (p.Ala113Thr)
|
rs138631461
|
|
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr)
|
rs201483656
|
|
NM_001194.4(HCN2):c.2332G>C (p.Ala778Pro)
|
rs1060499864
|
|
NM_001195263.2(PDZD7):c.1115C>A (p.Thr372Lys)
|
rs377765391
|
|
NM_001195263.2(PDZD7):c.1402A>G (p.Met468Val)
|
rs1392510268
|
|
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg)
|
rs1590053918
|
|
NM_001195263.2(PDZD7):c.1841G>C (p.Arg614Thr)
|
rs773503851
|
|
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4])
|
rs762000985
|
|
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del)
|
rs397516636
|
|
NM_001195263.2(PDZD7):c.419G>A (p.Ser140Asn)
|
rs1590069215
|
|
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)
|
rs200664140
|
|
NM_001198.4(PRDM1):c.281del (p.Asn94fs)
|
rs1582460592
|
|
NM_001199107.2(TBC1D24):c.-4C>T
|
rs202124579
|
|
NM_001199107.2(TBC1D24):c.130T>C (p.Trp44Arg)
|
rs1596967502
|
|
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln)
|
rs765396824
|
|
NM_001199107.2(TBC1D24):c.1529G>A (p.Gly510Glu)
|
rs755880523
|
|
NM_001199107.2(TBC1D24):c.1541A>G (p.Gln514Arg)
|
rs2065786840
|
|
NM_001199107.2(TBC1D24):c.1558G>C (p.Gly520Arg)
|
rs1555501693
|
|
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His)
|
rs876658012
|
|
NM_001199799.2(ILDR1):c.*11C>T
|
rs775202902
|
|
NM_001199799.2(ILDR1):c.-4C>T
|
rs761442523
|
|
NM_001199799.2(ILDR1):c.1137G>C (p.Glu379Asp)
|
rs1553743343
|
|
NM_001199799.2(ILDR1):c.1158G>C (p.Lys386Asn)
|
rs1553743331
|
|
NM_001199799.2(ILDR1):c.1245G>T (p.Trp415Cys)
|
rs140777020
|
|
NM_001199799.2(ILDR1):c.1357del (p.Arg453fs)
|
rs759967990
|
|
NM_001199799.2(ILDR1):c.1526C>T (p.Pro509Leu)
|
rs374884043
|
|
NM_001199799.2(ILDR1):c.1582A>G (p.Ser528Gly)
|
rs727503095
|
|
NM_001199799.2(ILDR1):c.230-9del
|
rs876657832
|
|
NM_001199799.2(ILDR1):c.380-10T>A
|
rs748442864
|
|
NM_001199799.2(ILDR1):c.486G>T (p.Lys162Asn)
|
rs142554264
|
|
NM_001199799.2(ILDR1):c.950T>G (p.Leu317Arg)
|
rs1553743398
|
|
NM_001201397.2(EDNRB):c.7A>T (p.Lys3Ter)
|
rs876657805
|
|
NM_001232.3(CASQ2):c.[730C>T;731A>G]
|
|
|
NM_001232.4(CASQ2):c.1090dup (p.Asp364fs)
|
rs397516639
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.781T>C (p.Trp261Arg)
|
rs397516642
|
|
NM_001232.4(CASQ2):c.783+3A>T
|
rs876657751
|
|
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln)
|
rs139228801
|
|
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)
|
rs200288250
|
|
NM_001243133.2(NLRP3):c.619T>C (p.Phe207Leu)
|
rs776833139
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001256317.3(TMPRSS3):c.1087T>G (p.Leu363Val)
|
rs397517370
|
|
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile)
|
rs727503492
|
|
NM_001256317.3(TMPRSS3):c.1180G>C (p.Asp394His)
|
rs111033537
|
|
NM_001256317.3(TMPRSS3):c.234A>C (p.Arg78Ser)
|
rs567503320
|
|
NM_001256317.3(TMPRSS3):c.238C>T (p.Arg80Cys)
|
rs143733205
|
|
NM_001256317.3(TMPRSS3):c.257T>A (p.Ile86Asn)
|
rs397517372
|
|
NM_001256317.3(TMPRSS3):c.272G>A (p.Arg91Gln)
|
rs397517373
|
|
NM_001256317.3(TMPRSS3):c.550T>G (p.Leu184Val)
|
rs876658022
|
|
NM_001256317.3(TMPRSS3):c.613A>C (p.Thr205Pro)
|
rs1175336303
|
|
NM_001256317.3(TMPRSS3):c.948C>G (p.Phe316Leu)
|
rs727504592
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
NM_001267550.2(TTN):c.10045A>G (p.Thr3349Ala)
|
rs777960129
|
|
NM_001267550.2(TTN):c.100980G>C (p.Glu33660Asp)
|
rs727503536
|
|
NM_001267550.2(TTN):c.101250C>G (p.Ile33750Met)
|
rs397517784
|
|
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys)
|
rs876658097
|
|
NM_001267550.2(TTN):c.101754T>G (p.Ser33918Arg)
|
rs952080555
|
|
NM_001267550.2(TTN):c.102028A>C (p.Ser34010Arg)
|
rs727503534
|
|
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val)
|
rs761105256
|
|
NM_001267550.2(TTN):c.103804C>G (p.Gln34602Glu)
|
rs727505242
|
|
NM_001267550.2(TTN):c.104414G>T (p.Arg34805Leu)
|
rs115150240
|
|
NM_001267550.2(TTN):c.104950del (p.Glu34984fs)
|
rs727503533
|
|
NM_001267550.2(TTN):c.104993C>A (p.Thr34998Asn)
|
rs397517794
|
|
NM_001267550.2(TTN):c.1049A>G (p.Tyr350Cys)
|
rs563369722
|
|
NM_001267550.2(TTN):c.105136G>A (p.Glu35046Lys)
|
rs540500017
|
|
NM_001267550.2(TTN):c.10523C>T (p.Thr3508Ile)
|
rs397517823
|
|
NM_001267550.2(TTN):c.105466C>G (p.Pro35156Ala)
|
rs876658100
|
|
NM_001267550.2(TTN):c.105630A>C (p.Gln35210His)
|
rs397517798
|
|
NM_001267550.2(TTN):c.10577T>C (p.Ile3526Thr)
|
rs727503677
|
|
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln)
|
rs1553484561
|
|
NM_001267550.2(TTN):c.106445C>G (p.Thr35482Ser)
|
rs397517799
|
|
NM_001267550.2(TTN):c.107147del (p.Gly35716fs)
|
rs876658101
|
|
NM_001267550.2(TTN):c.107223+1G>A
|
rs876658102
|
|
NM_001267550.2(TTN):c.11140A>G (p.Ile3714Val)
|
rs397517833
|
|
NM_001267550.2(TTN):c.11450G>A (p.Gly3817Asp)
|
rs371056587
|
|
NM_001267550.2(TTN):c.11546C>T (p.Pro3849Leu)
|
rs727503662
|
|
NM_001267550.2(TTN):c.11602T>C (p.Phe3868Leu)
|
rs727504700
|
|
NM_001267550.2(TTN):c.11657del (p.Asp3886fs)
|
rs397517826
|
|
NM_001267550.2(TTN):c.11756C>T (p.Thr3919Ile)
|
rs727503661
|
|
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr)
|
rs200052202
|
|
NM_001267550.2(TTN):c.1246-5T>C
|
rs727503707
|
|
NM_001267550.2(TTN):c.12734A>G (p.Asn4245Ser)
|
rs879167134
|
|
NM_001267550.2(TTN):c.12851A>C (p.Gln4284Pro)
|
rs876658107
|
|
NM_001267550.2(TTN):c.12887C>T (p.Ser4296Leu)
|
rs727503657
|
|
NM_001267550.2(TTN):c.13078A>C (p.Lys4360Gln)
|
rs727504903
|
|
NM_001267550.2(TTN):c.1312G>A (p.Val438Met)
|
rs727504795
|
|
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser)
|
rs727503656
|
|
NM_001267550.2(TTN):c.1349C>T (p.Ala450Val)
|
rs727503706
|
|
NM_001267550.2(TTN):c.13654G>A (p.Val4552Ile)
|
rs374214280
|
|
NM_001267550.2(TTN):c.13793del (p.Gly4598fs)
|
rs727503653
|
|
NM_001267550.2(TTN):c.13864A>G (p.Ile4622Val)
|
rs397517831
|
|
NM_001267550.2(TTN):c.14326A>G (p.Asn4776Asp)
|
rs727505309
|
|
NM_001267550.2(TTN):c.14828C>A (p.Ala4943Glu)
|
rs540497678
|
|
NM_001267550.2(TTN):c.1499C>T (p.Thr500Ile)
|
rs727503704
|
|
NM_001267550.2(TTN):c.15040A>G (p.Thr5014Ala)
|
rs143093473
|
|
NM_001267550.2(TTN):c.15130G>A (p.Val5044Ile)
|
rs727503650
|
|
NM_001267550.2(TTN):c.15369_15371del (p.Leu5123del)
|
rs397517480
|
|
NM_001267550.2(TTN):c.15415A>G (p.Ser5139Gly)
|
rs876658040
|
|
NM_001267550.2(TTN):c.15497-8T>C
|
rs727505010
|
|
NM_001267550.2(TTN):c.16367C>A (p.Pro5456His)
|
rs876658041
|
|
NM_001267550.2(TTN):c.16492A>G (p.Ile5498Val)
|
rs876658042
|
|
NM_001267550.2(TTN):c.16751T>A (p.Ile5584Asn)
|
rs779652311
|
|
NM_001267550.2(TTN):c.1691C>T (p.Ala564Val)
|
rs727505068
|
|
NM_001267550.2(TTN):c.17208C>G (p.Ile5736Met)
|
rs397517484
|
|
NM_001267550.2(TTN):c.17386C>G (p.His5796Asp)
|
rs397517485
|
|
NM_001267550.2(TTN):c.17752C>A (p.Pro5918Thr)
|
rs727504480
|
|
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)
|
rs191057824
|
|
NM_001267550.2(TTN):c.1828G>C (p.Val610Leu)
|
rs397517499
|
|
NM_001267550.2(TTN):c.18413C>A (p.Ser6138Tyr)
|
rs727504477
|
|
NM_001267550.2(TTN):c.19015T>C (p.Tyr6339His)
|
rs397517490
|
|
NM_001267550.2(TTN):c.19282A>T (p.Ser6428Cys)
|
rs727505137
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
|
NM_001267550.2(TTN):c.19483G>A (p.Gly6495Ser)
|
rs397517491
|
|
NM_001267550.2(TTN):c.20260A>G (p.Lys6754Glu)
|
rs397517494
|
|
NM_001267550.2(TTN):c.2076G>T (p.Lys692Asn)
|
rs1333188525
|
|
NM_001267550.2(TTN):c.20971A>G (p.Ser6991Gly)
|
rs397517496
|
|
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)
|
rs727505277
|
|
NM_001267550.2(TTN):c.21382C>G (p.Arg7128Gly)
|
rs727505031
|
|
NM_001267550.2(TTN):c.2143A>G (p.Arg715Gly)
|
rs727505258
|
|
NM_001267550.2(TTN):c.21755C>T (p.Thr7252Ile)
|
rs375714080
|
|
NM_001267550.2(TTN):c.22361G>A (p.Arg7454Lys)
|
rs727504464
|
|
NM_001267550.2(TTN):c.22386T>G (p.Asp7462Glu)
|
rs183482849
|
|
NM_001267550.2(TTN):c.23371T>C (p.Phe7791Leu)
|
rs727505045
|
|
NM_001267550.2(TTN):c.23537T>A (p.Phe7846Tyr)
|
rs397517504
|
|
NM_001267550.2(TTN):c.2359A>G (p.Ile787Val)
|
rs397517522
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
NM_001267550.2(TTN):c.24823G>A (p.Ala8275Thr)
|
rs771947778
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
NM_001267550.2(TTN):c.25706A>G (p.Tyr8569Cys)
|
rs397517516
|
|
NM_001267550.2(TTN):c.26345A>G (p.Asn8782Ser)
|
rs727504895
|
|
NM_001267550.2(TTN):c.27328+4T>G
|
rs876658048
|
|
NM_001267550.2(TTN):c.2776G>A (p.Val926Ile)
|
rs876658052
|
|
NM_001267550.2(TTN):c.27941T>A (p.Val9314Asp)
|
rs727505348
|
|
NM_001267550.2(TTN):c.28139G>T (p.Gly9380Val)
|
rs397517528
|
|
NM_001267550.2(TTN):c.28587A>C (p.Lys9529Asn)
|
rs876658049
|
|
NM_001267550.2(TTN):c.28754A>C (p.Glu9585Ala)
|
rs200856239
|
|
NM_001267550.2(TTN):c.28903A>G (p.Arg9635Gly)
|
rs397517531
|
|
NM_001267550.2(TTN):c.29278G>A (p.Asp9760Asn)
|
rs372537023
|
|
NM_001267550.2(TTN):c.29448AGA[2] (p.Glu9820del)
|
rs377232641
|
|
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)
|
rs189286381
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
NM_001267550.2(TTN):c.30296G>A (p.Cys10099Tyr)
|
rs1253569310
|
|
NM_001267550.2(TTN):c.30803-15C>T
|
rs397517535
|
|
NM_001267550.2(TTN):c.3089T>C (p.Leu1030Pro)
|
rs727504809
|
|
NM_001267550.2(TTN):c.31014T>G (p.Tyr10338Ter)
|
rs397517536
|
|
NM_001267550.2(TTN):c.31207+5G>A
|
rs876658051
|
|
NM_001267550.2(TTN):c.31255C>T (p.Pro10419Ser)
|
rs397517537
|
|
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met)
|
rs549877654
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.32449G>A (p.Glu10817Lys)
|
rs876658053
|
|
NM_001267550.2(TTN):c.32866del (p.Arg10956fs)
|
rs876658054
|
|
NM_001267550.2(TTN):c.33404C>A (p.Ala11135Glu)
|
rs577901623
|
|
NM_001267550.2(TTN):c.33479C>T (p.Thr11160Ile)
|
rs876658055
|
|
NM_001267550.2(TTN):c.33580+6T>C
|
rs368442571
|
|
NM_001267550.2(TTN):c.33971A>G (p.Lys11324Arg)
|
rs727504880
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5])
|
rs397517548
|
|
NM_001267550.2(TTN):c.34709-1G>A
|
rs727503634
|
|
NM_001267550.2(TTN):c.3476G>A (p.Arg1159His)
|
rs149883066
|
|
NM_001267550.2(TTN):c.3523G>A (p.Ala1175Thr)
|
rs397517570
|
|
NM_001267550.2(TTN):c.3625T>C (p.Phe1209Leu)
|
rs727503698
|
|
NM_001267550.2(TTN):c.37397C>T (p.Pro12466Leu)
|
rs727503632
|
|
NM_001267550.2(TTN):c.385G>A (p.Gly129Arg)
|
rs727503708
|
|
NM_001267550.2(TTN):c.39282TCC[1] (p.Pro13097del)
|
rs727503631
|
|
NM_001267550.2(TTN):c.39325G>C (p.Glu13109Gln)
|
rs727504920
|
|
NM_001267550.2(TTN):c.39419C>T (p.Ala13140Val)
|
rs397517556
|
|
NM_001267550.2(TTN):c.39819_39820delinsTT (p.Pro13274Ser)
|
rs727503630
|
|
NM_001267550.2(TTN):c.39895G>A (p.Glu13299Lys)
|
rs758166967
|
|
NM_001267550.2(TTN):c.40315G>T (p.Val13439Phe)
|
rs397517559
|
|
NM_001267550.2(TTN):c.40723+1del
|
rs876658058
|
|
NM_001267550.2(TTN):c.40877-14T>C
|
rs397517561
|
|
NM_001267550.2(TTN):c.40956A>G (p.Ile13652Met)
|
rs397517562
|
|
NM_001267550.2(TTN):c.41140A>G (p.Thr13714Ala)
|
rs876658057
|
|
NM_001267550.2(TTN):c.41143G>A (p.Ala13715Thr)
|
rs1192068092
|
|
NM_001267550.2(TTN):c.41179C>G (p.Arg13727Gly)
|
rs397517563
|
|
NM_001267550.2(TTN):c.41407G>A (p.Glu13803Lys)
|
rs727504780
|
|
NM_001267550.2(TTN):c.41504G>A (p.Arg13835Gln)
|
rs727504539
|
|
NM_001267550.2(TTN):c.41G>T (p.Ser14Ile)
|
rs771027745
|
|
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser)
|
rs367751077
|
|
NM_001267550.2(TTN):c.42278A>G (p.Lys14093Arg)
|
rs1553743733
|
|
NM_001267550.2(TTN):c.4269_4298del (p.1420ARMSP[2])
|
rs727503696
|
|
NM_001267550.2(TTN):c.42947-2A>G
|
rs1553741357
|
|
NM_001267550.2(TTN):c.42950G>A (p.Arg14317Gln)
|
rs727505144
|
|
NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg)
|
rs557125278
|
|
NM_001267550.2(TTN):c.43984G>C (p.Asp14662His)
|
rs876658059
|
|
NM_001267550.2(TTN):c.44350G>A (p.Asp14784Asn)
|
rs72677216
|
|
NM_001267550.2(TTN):c.44390A>G (p.Tyr14797Cys)
|
rs876658060
|
|
NM_001267550.2(TTN):c.44400del (p.Lys14801fs)
|
rs727503628
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
NM_001267550.2(TTN):c.44531C>G (p.Ala14844Gly)
|
rs1053826157
|
|
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His)
|
rs373109469
|
|
NM_001267550.2(TTN):c.45082+6A>G
|
rs876658061
|
|
NM_001267550.2(TTN):c.45268C>A (p.Gln15090Lys)
|
rs397517579
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del)
|
rs727505075
|
|
NM_001267550.2(TTN):c.46150C>G (p.Leu15384Val)
|
rs727505078
|
|
NM_001267550.2(TTN):c.46611G>T (p.Gln15537His)
|
rs727503625
|
|
NM_001267550.2(TTN):c.46667AAG[1] (p.Glu15557del)
|
rs876658062
|
|
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)
|
rs397517588
|
|
NM_001267550.2(TTN):c.46951A>G (p.Asn15651Asp)
|
rs727505035
|
|
NM_001267550.2(TTN):c.46966G>A (p.Asp15656Asn)
|
rs727504572
|
|
NM_001267550.2(TTN):c.47211A>C (p.Arg15737Ser)
|
rs727503624
|
|
NM_001267550.2(TTN):c.48074G>A (p.Ser16025Asn)
|
rs727504720
|
|
NM_001267550.2(TTN):c.48457G>T (p.Ala16153Ser)
|
rs876658063
|
|
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu)
|
rs769784536
|
|
NM_001267550.2(TTN):c.48638+5G>T
|
rs397517594
|
|
NM_001267550.2(TTN):c.49533-13G>A
|
rs13395942
|
|
NM_001267550.2(TTN):c.4960C>G (p.Pro1654Ala)
|
rs876658070
|
|
NM_001267550.2(TTN):c.49732G>T (p.Asp16578Tyr)
|
rs727505143
|
|
NM_001267550.2(TTN):c.49942A>G (p.Lys16648Glu)
|
rs727505156
|
|
NM_001267550.2(TTN):c.49955C>T (p.Pro16652Leu)
|
rs727504966
|
|
NM_001267550.2(TTN):c.50249-15T>G
|
rs727504732
|
|
NM_001267550.2(TTN):c.50494G>A (p.Ala16832Thr)
|
rs1465354124
|
|
NM_001267550.2(TTN):c.50647C>T (p.Pro16883Ser)
|
rs397517602
|
|
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val)
|
rs372013419
|
|
NM_001267550.2(TTN):c.51221A>G (p.Asp17074Gly)
|
rs1553693510
|
|
NM_001267550.2(TTN):c.51338C>T (p.Pro17113Leu)
|
rs763635220
|
|
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe)
|
rs397517603
|
|
NM_001267550.2(TTN):c.51547A>T (p.Ile17183Phe)
|
rs397517605
|
|
NM_001267550.2(TTN):c.52406-6T>A
|
rs727504767
|
|
NM_001267550.2(TTN):c.52448C>T (p.Thr17483Ile)
|
rs1553688779
|
|
NM_001267550.2(TTN):c.52656_52684delinsCAGATCCCAAAACAGATCCC (p.Gly17553_Lys17562delinsArgSerGlnAsnArgSerGln)
|
rs727503613
|
|
NM_001267550.2(TTN):c.52681C>A (p.Pro17561Thr)
|
rs727503612
|
|
NM_001267550.2(TTN):c.53080G>C (p.Ala17694Pro)
|
rs727503611
|
|
NM_001267550.2(TTN):c.53096G>C (p.Arg17699Pro)
|
rs72646808
|
|
NM_001267550.2(TTN):c.53287+1G>A
|
rs1064794266
|
|
NM_001267550.2(TTN):c.53517_53519del (p.Lys17840del)
|
rs727504701
|
|
NM_001267550.2(TTN):c.53558C>G (p.Pro17853Arg)
|
rs727503609
|
|
NM_001267550.2(TTN):c.53581G>A (p.Gly17861Ser)
|
rs1576357395
|
|
NM_001267550.2(TTN):c.53696T>C (p.Ile17899Thr)
|
rs369723141
|
|
NM_001267550.2(TTN):c.54057A>C (p.Glu18019Asp)
|
rs397517614
|
|
NM_001267550.2(TTN):c.54130A>G (p.Thr18044Ala)
|
rs397517616
|
|
NM_001267550.2(TTN):c.54812T>G (p.Phe18271Cys)
|
rs727503601
|
|
NM_001267550.2(TTN):c.54882A>C (p.Lys18294Asn)
|
rs770482704
|
|
NM_001267550.2(TTN):c.55303-10C>G
|
rs773047398
|
|
NM_001267550.2(TTN):c.55952A>G (p.Glu18651Gly)
|
rs876658067
|
|
NM_001267550.2(TTN):c.56788A>G (p.Arg18930Gly)
|
rs727503595
|
|
NM_001267550.2(TTN):c.56801T>A (p.Val18934Asp)
|
rs1553663624
|
|
NM_001267550.2(TTN):c.56956C>A (p.Pro18986Thr)
|
rs568015697
|
|
NM_001267550.2(TTN):c.57017A>G (p.Asp19006Gly)
|
rs747343924
|
|
NM_001267550.2(TTN):c.57232A>G (p.Thr19078Ala)
|
rs727503593
|
|
NM_001267550.2(TTN):c.57693G>T (p.Trp19231Cys)
|
rs876658071
|
|
NM_001267550.2(TTN):c.57847+1G>A
|
rs397517631
|
|
NM_001267550.2(TTN):c.58049AAG[1] (p.Glu19351del)
|
rs397517634
|
|
NM_001267550.2(TTN):c.58274C>G (p.Ala19425Gly)
|
rs727504525
|
|
NM_001267550.2(TTN):c.58394C>G (p.Thr19465Arg)
|
rs571477228
|
|
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val)
|
rs397517637
|
|
NM_001267550.2(TTN):c.58897A>G (p.Ile19633Val)
|
rs727505028
|
|
NM_001267550.2(TTN):c.5917A>G (p.Thr1973Ala)
|
rs397517666
|
|
NM_001267550.2(TTN):c.5929G>A (p.Val1977Met)
|
rs876658075
|
|
NM_001267550.2(TTN):c.59504T>G (p.Val19835Gly)
|
rs727504511
|
|
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser)
|
rs547180437
|
|
NM_001267550.2(TTN):c.59632C>T (p.Pro19878Ser)
|
rs752854931
|
|
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn)
|
rs374163882
|
|
NM_001267550.2(TTN):c.5992C>T (p.Arg1998Cys)
|
rs727503692
|
|
NM_001267550.2(TTN):c.6029A>G (p.Tyr2010Cys)
|
rs397517672
|
|
NM_001267550.2(TTN):c.60746A>C (p.Glu20249Ala)
|
rs397517646
|
|
NM_001267550.2(TTN):c.609G>C (p.Lys203Asn)
|
rs1554042109
|
|
NM_001267550.2(TTN):c.61615G>A (p.Ala20539Thr)
|
rs754756569
|
|
NM_001267550.2(TTN):c.61742T>G (p.Val20581Gly)
|
rs727504849
|
|
NM_001267550.2(TTN):c.6227A>G (p.Glu2076Gly)
|
rs397517680
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
NM_001267550.2(TTN):c.63241A>T (p.Ile21081Leu)
|
rs876658074
|
|
NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe)
|
rs377480514
|
|
NM_001267550.2(TTN):c.63632T>C (p.Val21211Ala)
|
rs397517654
|
|
NM_001267550.2(TTN):c.64589C>T (p.Thr21530Ile)
|
rs397517659
|
|
NM_001267550.2(TTN):c.64774A>G (p.Ile21592Val)
|
rs727503581
|
|
NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu)
|
rs397517661
|
|
NM_001267550.2(TTN):c.65243C>T (p.Pro21748Leu)
|
rs1419714561
|
|
NM_001267550.2(TTN):c.66275T>G (p.Leu22092Arg)
|
rs1553627146
|
|
NM_001267550.2(TTN):c.66778G>A (p.Glu22260Lys)
|
rs553988103
|
|
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn)
|
rs397517670
|
|
NM_001267550.2(TTN):c.67683G>C (p.Leu22561Phe)
|
rs876658076
|
|
NM_001267550.2(TTN):c.68251A>C (p.Asn22751His)
|
rs727504970
|
|
NM_001267550.2(TTN):c.68410A>G (p.Lys22804Glu)
|
rs397517677
|
|
NM_001267550.2(TTN):c.68417C>T (p.Thr22806Ile)
|
rs727503573
|
|
NM_001267550.2(TTN):c.68498C>T (p.Ser22833Leu)
|
rs876658077
|
|
NM_001267550.2(TTN):c.68612A>C (p.His22871Pro)
|
rs761622490
|
|
NM_001267550.2(TTN):c.68654C>T (p.Ser22885Leu)
|
rs376574861
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
NM_001267550.2(TTN):c.69117T>A (p.Asp23039Glu)
|
rs727503572
|
|
NM_001267550.2(TTN):c.6913G>A (p.Glu2305Lys)
|
rs367761468
|
|
NM_001267550.2(TTN):c.69844G>A (p.Val23282Ile)
|
rs876658079
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001267550.2(TTN):c.70600T>A (p.Ser23534Thr)
|
rs397517686
|
|
NM_001267550.2(TTN):c.70625T>C (p.Met23542Thr)
|
rs727503570
|
|
NM_001267550.2(TTN):c.70796A>T (p.Glu23599Val)
|
rs727503568
|
|
NM_001267550.2(TTN):c.71332G>A (p.Ala23778Thr)
|
rs727503566
|
|
NM_001267550.2(TTN):c.7133A>G (p.Lys2378Arg)
|
rs727503690
|
|
NM_001267550.2(TTN):c.72236A>G (p.Lys24079Arg)
|
rs775482499
|
|
NM_001267550.2(TTN):c.72652A>C (p.Asn24218His)
|
rs727505243
|
|
NM_001267550.2(TTN):c.72874G>A (p.Glu24292Lys)
|
rs727505240
|
|
NM_001267550.2(TTN):c.72985A>G (p.Asn24329Asp)
|
rs397517694
|
|
NM_001267550.2(TTN):c.73385G>C (p.Trp24462Ser)
|
rs1553607435
|
|
NM_001267550.2(TTN):c.73540G>T (p.Val24514Phe)
|
rs1553607188
|
|
NM_001267550.2(TTN):c.74057C>G (p.Ser24686Cys)
|
rs727504921
|
|
NM_001267550.2(TTN):c.74416C>T (p.Leu24806Phe)
|
rs866687107
|
|
NM_001267550.2(TTN):c.74673G>C (p.Lys24891Asn)
|
rs727504855
|
|
NM_001267550.2(TTN):c.75044C>T (p.Ala25015Val)
|
rs397517699
|
|
NM_001267550.2(TTN):c.75104G>A (p.Gly25035Glu)
|
rs727503560
|
|
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe)
|
rs559907766
|
|
NM_001267550.2(TTN):c.7556T>G (p.Val2519Gly)
|
rs372361514
|
|
NM_001267550.2(TTN):c.76027A>G (p.Lys25343Glu)
|
rs727504596
|
|
NM_001267550.2(TTN):c.76229A>T (p.Asn25410Ile)
|
rs397517706
|
|
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter)
|
rs727503688
|
|
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala)
|
rs377754701
|
|
NM_001267550.2(TTN):c.76559T>C (p.Ile25520Thr)
|
rs1553601714
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
NM_001267550.2(TTN):c.77171A>T (p.His25724Leu)
|
rs768382014
|
|
NM_001267550.2(TTN):c.77182A>G (p.Ser25728Gly)
|
rs1306199809
|
|
NM_001267550.2(TTN):c.77564T>A (p.Leu25855His)
|
rs397517710
|
|
NM_001267550.2(TTN):c.77789A>C (p.Lys25930Thr)
|
rs397517711
|
|
NM_001267550.2(TTN):c.78370A>T (p.Ile26124Phe)
|
rs397517713
|
|
NM_001267550.2(TTN):c.78481T>A (p.Phe26161Ile)
|
rs876658082
|
|
NM_001267550.2(TTN):c.79109G>A (p.Gly26370Glu)
|
rs727505061
|
|
NM_001267550.2(TTN):c.79207A>G (p.Met26403Val)
|
rs876658083
|
|
NM_001267550.2(TTN):c.79217G>C (p.Cys26406Ser)
|
rs727505223
|
|
NM_001267550.2(TTN):c.79343T>G (p.Val26448Gly)
|
rs1553590427
|
|
NM_001267550.2(TTN):c.79827del (p.Ala26610fs)
|
rs397517715
|
|
NM_001267550.2(TTN):c.80006G>A (p.Ser26669Asn)
|
rs727505214
|
|
NM_001267550.2(TTN):c.8131A>C (p.Lys2711Gln)
|
rs727504735
|
|
NM_001267550.2(TTN):c.81881T>G (p.Val27294Gly)
|
rs876658084
|
|
NM_001267550.2(TTN):c.81901G>A (p.Gly27301Ser)
|
rs727504650
|
|
NM_001267550.2(TTN):c.82759G>A (p.Val27587Ile)
|
rs876658085
|
|
NM_001267550.2(TTN):c.83611A>T (p.Thr27871Ser)
|
rs397517724
|
|
NM_001267550.2(TTN):c.84095C>A (p.Thr28032Asn)
|
rs876658087
|
|
NM_001267550.2(TTN):c.84451C>A (p.Pro28151Thr)
|
rs727504873
|
|
NM_001267550.2(TTN):c.84523T>C (p.Trp28175Arg)
|
rs397517728
|
|
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter)
|
rs397517729
|
|
NM_001267550.2(TTN):c.84625A>G (p.Ile28209Val)
|
rs753472730
|
|
NM_001267550.2(TTN):c.85598_85603del (p.Val28533_Gly28534del)
|
rs727503553
|
|
NM_001267550.2(TTN):c.8633_8636del (p.Phe2878fs)
|
rs727503686
|
|
NM_001267550.2(TTN):c.86377A>G (p.Thr28793Ala)
|
rs727505234
|
|
NM_001267550.2(TTN):c.86429T>C (p.Leu28810Pro)
|
rs397517734
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
NM_001267550.2(TTN):c.86810T>A (p.Val28937Glu)
|
rs1702746268
|
|
NM_001267550.2(TTN):c.8685G>T (p.Glu2895Asp)
|
rs727503685
|
|
NM_001267550.2(TTN):c.87049G>A (p.Ala29017Thr)
|
rs727505050
|
|
NM_001267550.2(TTN):c.87377C>G (p.Thr29126Ser)
|
rs559269036
|
|
NM_001267550.2(TTN):c.88297G>C (p.Asp29433His)
|
rs189202799
|
|
NM_001267550.2(TTN):c.88306+1G>C
|
rs727503550
|
|
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu)
|
rs397517763
|
|
NM_001267550.2(TTN):c.8953A>T (p.Thr2985Ser)
|
rs727503684
|
|
NM_001267550.2(TTN):c.89545G>T (p.Val29849Phe)
|
rs727504493
|
|
NM_001267550.2(TTN):c.89766G>C (p.Lys29922Asn)
|
rs397517745
|
|
NM_001267550.2(TTN):c.9031A>G (p.Thr3011Ala)
|
rs727504682
|
|
NM_001267550.2(TTN):c.90409C>T (p.Pro30137Ser)
|
rs727505150
|
|
NM_001267550.2(TTN):c.90415G>A (p.Ala30139Thr)
|
rs397517748
|
|
NM_001267550.2(TTN):c.90834T>A (p.Ser30278Arg)
|
rs397517751
|
|
NM_001267550.2(TTN):c.90904G>A (p.Glu30302Lys)
|
rs1553538924
|
|
NM_001267550.2(TTN):c.91108C>G (p.Leu30370Val)
|
rs876658092
|
|
NM_001267550.2(TTN):c.91478A>G (p.Glu30493Gly)
|
rs397517754
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
NM_001267550.2(TTN):c.9160G>A (p.Glu3054Lys)
|
rs397517779
|
|
NM_001267550.2(TTN):c.92498C>T (p.Thr30833Ile)
|
rs727505334
|
|
NM_001267550.2(TTN):c.92513T>A (p.Val30838Glu)
|
rs727505344
|
|
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)
|
rs373366126
|
|
NM_001267550.2(TTN):c.93101C>A (p.Thr31034Lys)
|
rs727504875
|
|
NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys)
|
rs750303653
|
|
NM_001267550.2(TTN):c.93472G>C (p.Asp31158His)
|
rs397517757
|
|
NM_001267550.2(TTN):c.9369T>G (p.Asp3123Glu)
|
rs397517785
|
|
NM_001267550.2(TTN):c.9384dup (p.Val3129fs)
|
rs727503683
|
|
NM_001267550.2(TTN):c.94057A>T (p.Thr31353Ser)
|
rs727503548
|
|
NM_001267550.2(TTN):c.95363A>G (p.Tyr31788Cys)
|
rs397517761
|
|
NM_001267550.2(TTN):c.95543AGA[2] (p.Lys31850del)
|
rs727504556
|
|
NM_001267550.2(TTN):c.95594A>T (p.Asp31865Val)
|
rs876658094
|
|
NM_001267550.2(TTN):c.95732G>A (p.Gly31911Glu)
|
rs778837156
|
|
NM_001267550.2(TTN):c.95744C>T (p.Ala31915Val)
|
rs1553519431
|
|
NM_001267550.2(TTN):c.95848G>A (p.Glu31950Lys)
|
rs727505199
|
|
NM_001267550.2(TTN):c.95864A>T (p.Gln31955Leu)
|
rs552683796
|
|
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)
|
rs727503541
|
|
NM_001267550.2(TTN):c.961G>A (p.Val321Ile)
|
rs876658099
|
|
NM_001267550.2(TTN):c.96229C>T (p.Arg32077Trp)
|
rs751316145
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001267550.2(TTN):c.96478A>G (p.Ser32160Gly)
|
rs727504907
|
|
NM_001267550.2(TTN):c.96499T>C (p.Ser32167Pro)
|
rs727504889
|
|
NM_001267550.2(TTN):c.96659C>T (p.Thr32220Ile)
|
rs727505204
|
|
NM_001267550.2(TTN):c.96807A>T (p.Glu32269Asp)
|
rs876658095
|
|
NM_001267550.2(TTN):c.97204_97205delinsAG (p.Pro32402Arg)
|
rs864622675
|
|
NM_001267550.2(TTN):c.97331G>A (p.Arg32444His)
|
rs184922462
|
|
NM_001267550.2(TTN):c.98000A>G (p.Gln32667Arg)
|
rs397517773
|
|
NM_001267550.2(TTN):c.98158G>A (p.Gly32720Ser)
|
rs727504768
|
|
NM_001267550.2(TTN):c.98296G>T (p.Asp32766Tyr)
|
rs727504449
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
NM_001267550.2(TTN):c.99273A>G (p.Ile33091Met)
|
rs746305727
|
|
NM_001267550.2(TTN):c.99466C>A (p.His33156Asn)
|
rs374666520
|
|
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe)
|
rs397517780
|
|
NM_001276345.2(TNNT2):c.163+5G>A
|
rs727504254
|
|
NM_001276345.2(TNNT2):c.208A>C (p.Met70Leu)
|
rs141837529
|
|
NM_001276345.2(TNNT2):c.228G>C (p.Lys76Asn)
|
rs727504869
|
|
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.279G>C (p.Glu93Asp)
|
rs727503514
|
|
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr)
|
rs397516452
|
|
NM_001276345.2(TNNT2):c.282A>T (p.Arg94Ser)
|
rs397516453
|
|
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val)
|
rs397516458
|
|
NM_001276345.2(TNNT2):c.329A>G (p.Asn110Ser)
|
rs727505027
|
|
NM_001276345.2(TNNT2):c.355C>T (p.His119Tyr)
|
rs397516460
|
|
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys)
|
rs397516465
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
NM_001276345.2(TNNT2):c.487G>A (p.Ala163Thr)
|
rs727505030
|
|
NM_001276345.2(TNNT2):c.503G>A (p.Arg168Gln)
|
rs397516468
|
|
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln)
|
rs45501500
|
|
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.560C>A (p.Ala187Asp)
|
rs397516473
|
|
NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe)
|
rs201270895
|
|
NM_001276345.2(TNNT2):c.573G>T (p.Met191Ile)
|
rs876658028
|
|
NM_001276345.2(TNNT2):c.581T>C (p.Phe194Ser)
|
rs1553281172
|
|
NM_001276345.2(TNNT2):c.601-8C>A
|
rs397516475
|
|
NM_001276345.2(TNNT2):c.628A>G (p.Lys210Glu)
|
rs727503511
|
|
NM_001276345.2(TNNT2):c.638C>T (p.Thr213Ile)
|
rs397516476
|
|
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln)
|
rs121964860
|
|
NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro)
|
rs121964860
|
|
NM_001276345.2(TNNT2):c.679A>G (p.Lys227Glu)
|
rs397516478
|
|
NM_001276345.2(TNNT2):c.682G>T (p.Val228Leu)
|
rs397516479
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys)
|
rs727504488
|
|
NM_001276345.2(TNNT2):c.854C>A (p.Ser285Tyr)
|
rs876658029
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001276345.2(TNNT2):c.866G>A (p.Gly289Glu)
|
rs727505233
|
|
NM_001276345.2(TNNT2):c.97G>A (p.Glu33Lys)
|
rs377474357
|
|
NM_001277115.2(DNAH11):c.10009A>C (p.Ile3337Leu)
|
rs145645790
|
|
NM_001277115.2(DNAH11):c.11186A>T (p.Tyr3729Phe)
|
rs727502970
|
|
NM_001277115.2(DNAH11):c.4984G>C (p.Asp1662His)
|
rs778565448
|
|
NM_001277115.2(DNAH11):c.5537T>A (p.Val1846Asp)
|
rs727502968
|
|
NM_001277269.2(OTOG):c.4198_4215del (p.Lys1400_Ala1405del)
|
rs876657940
|
|
NM_001277269.2(OTOG):c.7517-5_7518dup
|
rs1295062471
|
|
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr)
|
rs148080505
|
|
NM_001286445.3(RIPOR2):c.2579T>C (p.Val860Ala)
|
rs1581507142
|
|
NM_001289808.2(CRYAB):c.265C>T (p.Leu89Phe)
|
rs797044515
|
|
NM_001289808.2(CRYAB):c.353T>C (p.Phe118Ser)
|
rs876657766
|
|
NM_001292063.2(OTOG):c.14C>T (p.Ala5Val)
|
rs1018902503
|
|
NM_001292063.2(OTOG):c.1955+4C>A
|
rs757779986
|
|
NM_001292063.2(OTOG):c.2939G>C (p.Arg980Pro)
|
rs876657938
|
|
NM_001292063.2(OTOG):c.4060C>A (p.Pro1354Thr)
|
rs1554974319
|
|
NM_001292063.2(OTOG):c.4156G>A (p.Asp1386Asn)
|
rs876657939
|
|
NM_001292063.2(OTOG):c.5408C>A (p.Pro1803His)
|
rs1853511496
|
|
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)
|
rs753906203
|
|
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His)
|
rs188527711
|
|
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu)
|
rs188527711
|
|
NM_001292063.2(OTOG):c.6181G>T (p.Val2061Leu)
|
rs748497956
|
|
NM_001292063.2(OTOG):c.6293-3C>G
|
rs201371081
|
|
NM_001292063.2(OTOG):c.7147G>A (p.Gly2383Arg)
|
rs866627770
|
|
NM_001292063.2(OTOG):c.7261A>G (p.Lys2421Glu)
|
rs876657941
|
|
NM_001292063.2(OTOG):c.7364C>A (p.Thr2455Asn)
|
rs1554979068
|
|
NM_001292063.2(OTOG):c.8018_8019delinsAT (p.Ala2673Asp)
|
rs876657945
|
|
NM_001292063.2(OTOG):c.938C>T (p.Pro313Leu)
|
rs767555421
|
|
NM_001318895.3(FHL2):c.284A>G (p.Asn95Ser)
|
rs727505151
|
|
NM_001318895.3(FHL2):c.391C>T (p.Arg131Cys)
|
rs397517959
|
|
NM_001318895.3(FHL2):c.595C>A (p.Arg199Ser)
|
rs373259092
|
|
NM_001318895.3(FHL2):c.62T>A (p.Leu21Gln)
|
rs755805016
|
|
NM_001318895.3(FHL2):c.671G>T (p.Cys224Phe)
|
rs727504994
|
|
NM_001318895.3(FHL2):c.678C>A (p.Asn226Lys)
|
rs137869171
|
|
NM_001318895.3(FHL2):c.81C>A (p.Tyr27Ter)
|
rs727503060
|
|
NM_001330.5(CTF1):c.319C>T (p.Arg107Cys)
|
rs727502950
|
|
NM_001330691.3(CEP78):c.485A>G (p.Asp162Gly)
|
rs1826169363
|
|
NM_001349338.3(FOXP1):c.274G>C (p.Ala92Pro)
|
rs1388674903
|
|
NM_001354604.2(MITF):c.1040G>A (p.Arg347His)
|
rs1195515853
|
|
NM_001354604.2(MITF):c.105-12789C>T
|
rs761597919
|
|
NM_001354604.2(MITF):c.1072G>A (p.Val358Met)
|
rs1271000541
|
|
NM_001354604.2(MITF):c.1202C>T (p.Ala401Val)
|
rs1553706163
|
|
NM_001354604.2(MITF):c.452A>C (p.His151Pro)
|
rs1576004813
|
|
NM_001354604.2(MITF):c.60G>T (p.Glu20Asp)
|
rs780642512
|
|
NM_001354604.2(MITF):c.639C>G (p.Asn213Lys)
|
rs137944487
|
|
NM_001368067.1(LDB3):c.775C>G (p.Arg259Gly)
|
rs397516560
|
|
NM_001369.3(DNAH5):c.8128G>A (p.Gly2710Ser)
|
rs1219540537
|
|
NM_001370259.2(MEN1):c.655-6C>A
|
rs77461664
|
|
NM_001371333.1(DIABLO):c.-9C>G
|
rs755788729
|
|
NM_001371333.1(DIABLO):c.291T>G (p.Ile97Met)
|
rs876657775
|
|
NM_001371333.1(DIABLO):c.634_635del (p.Gln212fs)
|
rs1430893033
|
|
NM_001372044.2(SHANK3):c.3664C>T (p.Gln1222Ter)
|
rs751604326
|
|
NM_001374736.1(DST):c.14071T>G (p.Leu4691Val)
|
rs1060499855
|
|
NM_001374828.1(ARID1B):c.2907G>A (p.Met969Ile)
|
rs1060499843
|
|
NM_001378454.1(ALMS1):c.10870T>C (p.Ser3624Pro)
|
rs1573030477
|
|
NM_001378454.1(ALMS1):c.1093G>A (p.Asp365Asn)
|
rs1229379546
|
|
NM_001378454.1(ALMS1):c.3325C>A (p.Gln1109Lys)
|
rs1671890891
|
|
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu)
|
rs757303904
|
|
NM_001378454.1(ALMS1):c.3731A>T (p.Lys1244Met)
|
rs1671903375
|
|
NM_001378454.1(ALMS1):c.4111A>G (p.Thr1371Ala)
|
rs1572934899
|
|
NM_001378454.1(ALMS1):c.4808C>G (p.Pro1603Arg)
|
rs1572935792
|
|
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr)
|
rs1572937937
|
|
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu)
|
rs6546839
|
|
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)
|
rs574785830
|
|
NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=)
|
rs1572970207
|
|
NM_001378469.1(BRAF):c.1178-61A>G
|
rs397516886
|
|
NM_001378609.3(OTOGL):c.1582G>A (p.Glu528Lys)
|
rs876657942
|
|
NM_001378609.3(OTOGL):c.1892C>G (p.Ser631Cys)
|
rs373638514
|
|
NM_001378609.3(OTOGL):c.3323C>T (p.Ala1108Val)
|
rs1592682793
|
|
NM_001378609.3(OTOGL):c.335-9del
|
rs754987281
|
|
NM_001378609.3(OTOGL):c.3605G>A (p.Cys1202Tyr)
|
rs876657948
|
|
NM_001378609.3(OTOGL):c.3935A>C (p.His1312Pro)
|
rs768575822
|
|
NM_001378609.3(OTOGL):c.4279+3_4279+6del
|
rs1592713988
|
|
NM_001378609.3(OTOGL):c.6748G>C (p.Val2250Leu)
|
rs77741668
|
|
NM_001378609.3(OTOGL):c.6922G>A (p.Glu2308Lys)
|
rs1891257108
|
|
NM_001379180.1(ESRRB):c.*1402C>A
|
rs1595180187
|
|
NM_001379180.1(ESRRB):c.*1559A>G
|
rs776268469
|
|
NM_001379180.1(ESRRB):c.*2241dup
|
rs1555345959
|
|
NM_001379180.1(ESRRB):c.1259del (p.Leu420fs)
|
rs876657807
|
|
NM_001379180.1(ESRRB):c.460+5G>A
|
rs876657808
|
|
NM_001379180.1(ESRRB):c.533C>T (p.Ala178Val)
|
rs1368040979
|
|
NM_001379180.1(ESRRB):c.659T>C (p.Leu220Ser)
|
rs886050806
|
|
NM_001379500.1(COL18A1):c.107-12645dup
|
rs752078007
|
|
NM_001382567.1(STIM1):c.7G>A (p.Val3Ile)
|
rs1060499904
|
|
NM_001384140.1(PCDH15):c.*14A>G
|
rs876657950
|
|
NM_001384140.1(PCDH15):c.1045C>G (p.Leu349Val)
|
rs1554841242
|
|
NM_001384140.1(PCDH15):c.1102G>A (p.Glu368Lys)
|
rs1554833865
|
|
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly)
|
rs199786639
|
|
NM_001384140.1(PCDH15):c.1537T>C (p.Ser513Pro)
|
rs876657951
|
|
NM_001384140.1(PCDH15):c.169G>A (p.Val57Met)
|
rs1589122156
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2691G>C (p.Glu897Asp)
|
rs876657952
|
|
NM_001384140.1(PCDH15):c.3373+3A>G
|
rs397517456
|
|
NM_001384140.1(PCDH15):c.3579A>C (p.Glu1193Asp)
|
rs1564640040
|
|
NM_001384140.1(PCDH15):c.4213C>G (p.Arg1405Gly)
|
rs148046721
|
|
NM_001384140.1(PCDH15):c.4343A>G (p.Tyr1448Cys)
|
rs397517459
|
|
NM_001384140.1(PCDH15):c.4343_4344del (p.Leu1447_Tyr1448insTer)
|
rs1588967380
|
|
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met)
|
rs534173969
|
|
NM_001384140.1(PCDH15):c.4671+1033dup
|
rs1554815895
|
|
NM_001384140.1(PCDH15):c.4671+1164_4671+1167del
|
rs483353074
|
|
NM_001384140.1(PCDH15):c.4671+1206G>T
|
rs1588875434
|
|
NM_001384140.1(PCDH15):c.4671+1256del
|
rs1404094905
|
|
NM_001384140.1(PCDH15):c.4671+1418T>C
|
rs730880021
|
|
NM_001384140.1(PCDH15):c.4671+1595GAA[3]
|
rs730880019
|
|
NM_001384140.1(PCDH15):c.4672-1607delinsAGT
|
rs730880020
|
|
NM_001384140.1(PCDH15):c.4672-1657del
|
rs876657949
|
|
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer)
|
rs770322907
|
|
NM_001384140.1(PCDH15):c.947C>T (p.Pro316Leu)
|
rs397517469
|
|
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe)
|
rs145011716
|
|
NM_001384474.1(LOXHD1):c.130+4C>A
|
rs1024865273
|
|
NM_001384474.1(LOXHD1):c.131-11_131-10delinsAA
|
rs876657857
|
|
NM_001384474.1(LOXHD1):c.1810-6C>A
|
rs199804946
|
|
NM_001384474.1(LOXHD1):c.1810-6C>G
|
rs199804946
|
|
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp)
|
rs376539851
|
|
NM_001384474.1(LOXHD1):c.2696G>A (p.Arg899Gln)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.2916AGAGGAGGA[1] (p.Glu976_Glu978del)
|
rs765944082
|
|
NM_001384474.1(LOXHD1):c.3145G>A (p.Glu1049Lys)
|
rs727504468
|
|
NM_001384474.1(LOXHD1):c.3626C>T (p.Thr1209Ile)
|
rs727504804
|
|
NM_001384474.1(LOXHD1):c.4000G>A (p.Asp1334Asn)
|
rs1555673818
|
|
NM_001384474.1(LOXHD1):c.4090G>T (p.Val1364Leu)
|
rs144935513
|
|
NM_001384474.1(LOXHD1):c.4240G>T (p.Asp1414Tyr)
|
rs750155249
|
|
NM_001384474.1(LOXHD1):c.4423G>T (p.Gly1475Trp)
|
rs779091317
|
|
NM_001384474.1(LOXHD1):c.4525G>A (p.Gly1509Arg)
|
rs727505320
|
|
NM_001384474.1(LOXHD1):c.4742A>G (p.Glu1581Gly)
|
rs1555670255
|
|
NM_001384474.1(LOXHD1):c.4757G>T (p.Arg1586Leu)
|
rs369890906
|
|
NM_001384474.1(LOXHD1):c.4877-3C>A
|
rs876657861
|
|
NM_001384474.1(LOXHD1):c.4957G>A (p.Gly1653Arg)
|
rs374897301
|
|
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg)
|
rs374897301
|
|
NM_001384474.1(LOXHD1):c.5113_5125dup (p.Val1709fs)
|
rs876657855
|
|
NM_001384474.1(LOXHD1):c.5922C>A (p.Asp1974Glu)
|
rs1598827375
|
|
NM_001384474.1(LOXHD1):c.601G>A (p.Gly201Arg)
|
rs727504992
|
|
NM_001384474.1(LOXHD1):c.621G>C (p.Arg207Ser)
|
rs200328459
|
|
NM_001384474.1(LOXHD1):c.6268C>T (p.Arg2090Trp)
|
rs569341831
|
|
NM_001384474.1(LOXHD1):c.6314C>A (p.Thr2105Asn)
|
rs1555653083
|
|
NM_001384474.1(LOXHD1):c.6379AGGAAG[3] (p.2127RK[3])
|
rs1555651404
|
|
NM_001384474.1(LOXHD1):c.6710T>G (p.Val2237Gly)
|
rs1555651054
|
|
NM_001386795.1(DTNA):c.1743+2112G>C
|
rs876657802
|
|
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)
|
rs200246467
|
|
NM_001386795.1(DTNA):c.953C>A (p.Pro318His)
|
rs727505085
|
|
NM_001393500.2(TOMT):c.573C>G (p.Asp191Glu)
|
rs397516627
|
|
NM_001393500.2(TOMT):c.66C>G (p.His22Gln)
|
rs727503152
|
|
NM_001399.5(EDA):c.1001G>C (p.Arg334Pro)
|
rs142948132
|
|
NM_001399.5(EDA):c.1070G>C (p.Arg357Pro)
|
rs61747506
|
|
NM_001399.5(EDA):c.1087A>G (p.Lys363Glu)
|
rs397516653
|
|
NM_001399.5(EDA):c.1127A>G (p.His376Arg)
|
rs1556111035
|
|
NM_001399.5(EDA):c.1151G>C (p.Arg384Thr)
|
rs397516655
|
|
NM_001399.5(EDA):c.173_175del (p.Leu58del)
|
rs397516658
|
|
NM_001399.5(EDA):c.201G>T (p.Glu67Asp)
|
rs727505160
|
|
NM_001399.5(EDA):c.527-6T>G
|
rs876657803
|
|
NM_001399.5(EDA):c.599C>A (p.Pro200Gln)
|
rs397516669
|
|
NM_001399.5(EDA):c.626C>T (p.Pro209Leu)
|
rs132630315
|
|
NM_001399.5(EDA):c.740A>G (p.Gln247Arg)
|
rs397516673
|
|
NM_001399.5(EDA):c.742-14T>G
|
rs727504762
|
|
NM_001399.5(EDA):c.742-18T>G
|
rs727504865
|
|
NM_001399.5(EDA):c.793G>A (p.Asp265Asn)
|
rs397516674
|
|
NM_001399.5(EDA):c.794A>G (p.Asp265Gly)
|
rs727504750
|
|
NM_001399.5(EDA):c.881A>T (p.Glu294Val)
|
rs397516678
|
|
NM_001399.5(EDA):c.917A>T (p.Gln306Leu)
|
rs727503009
|
|
NM_001429.4(EP300):c.2997+1G>A
|
rs1169505007
|
|
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter)
|
rs1420159591
|
|
NM_001458.5(FLNC):c.1471G>C (p.Val491Leu)
|
rs770264114
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001563.4(IMPG1):c.907C>T (p.Gln303Ter)
|
rs1366194463
|
|
NM_001613.4(ACTA2):c.338A>C (p.Asn113Thr)
|
rs397516680
|
|
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)
|
rs397516683
|
|
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)
|
rs782217473
|
|
NM_001614.5(ACTG1):c.1051A>C (p.Thr351Pro)
|
rs727502880
|
|
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile)
|
rs876657740
|
|
NM_001614.5(ACTG1):c.409C>G (p.Gln137Glu)
|
rs876657741
|
|
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly)
|
rs727504862
|
|
NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln)
|
rs781945750
|
|
NM_001614.5(ACTG1):c.853T>C (p.Cys285Arg)
|
rs727502882
|
|
NM_001625.4(AK2):c.*2347G>T
|
rs1045885332
|
|
NM_001692.4(ATP6V1B1):c.1211T>C (p.Met404Thr)
|
rs782107153
|
|
NM_001692.4(ATP6V1B1):c.1394G>T (p.Arg465Leu)
|
rs142905621
|
|
NM_001692.4(ATP6V1B1):c.317G>A (p.Cys106Tyr)
|
rs727502893
|
|
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp)
|
rs727505222
|
|
NM_001692.4(ATP6V1B1):c.5C>A (p.Ala2Asp)
|
rs876657744
|
|
NM_001709.5(BDNF):c.-22+764G>C
|
rs955482595
|
|
NM_001754.5(RUNX1):c.98-20_98-18del
|
rs1555899933
|
|
NM_001927.4(DES):c.1189G>A (p.Ala397Thr)
|
rs727502951
|
|
NM_001927.4(DES):c.1226T>C (p.Leu409Pro)
|
rs397516687
|
|
NM_001927.4(DES):c.127A>G (p.Lys43Glu)
|
rs397516689
|
|
NM_001927.4(DES):c.1366G>A (p.Gly456Arg)
|
rs397516690
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
NM_001927.4(DES):c.347A>T (p.Asn116Ile)
|
rs267607499
|
|
NM_001927.4(DES):c.376G>T (p.Val126Leu)
|
rs876657770
|
|
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
|
rs397516694
|
|
NM_001927.4(DES):c.709G>A (p.Ala237Thr)
|
rs397516697
|
|
NM_001927.4(DES):c.980A>C (p.Gln327Pro)
|
rs397516700
|
|
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)
|
rs727502987
|
|
NM_001943.5(DSG2):c.1109dup (p.Thr371fs)
|
rs1555627118
|
|
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp)
|
rs727504748
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)
|
rs775256998
|
|
NM_001943.5(DSG2):c.1399G>A (p.Val467Ile)
|
rs727504533
|
|
NM_001943.5(DSG2):c.1487dup (p.Cys496fs)
|
rs730880347
|
|
NM_001943.5(DSG2):c.152G>T (p.Trp51Leu)
|
rs397516702
|
|
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr)
|
rs876657792
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile)
|
rs547741894
|
|
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs)
|
rs727502990
|
|
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg)
|
rs397516707
|
|
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)
|
rs201786158
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
NM_001943.5(DSG2):c.875G>A (p.Arg292His)
|
rs185821167
|
|
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr)
|
rs727505205
|
|
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs)
|
rs772501604
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_002109.6(HARS1):c.745G>T (p.Val249Leu)
|
rs1223501940
|
|
NM_002230.4(JUP):c.1153A>C (p.Lys385Gln)
|
rs727505135
|
|
NM_002230.4(JUP):c.1646C>A (p.Pro549His)
|
rs1555599683
|
|
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser)
|
rs397517297
|
|
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu)
|
rs397517298
|
|
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr)
|
rs397517299
|
|
NM_002230.4(JUP):c.193G>T (p.Val65Leu)
|
rs727503100
|
|
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del)
|
rs781818082
|
|
NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup)
|
rs3831942
|
|
NM_002294.3(LAMP2):c.-4G>A
|
rs200297370
|
|
NM_002294.3(LAMP2):c.-4G>C
|
rs200297370
|
|
NM_002294.3(LAMP2):c.1093+2538G>A
|
rs1602530706
|
|
NM_002294.3(LAMP2):c.1093+2565C>G
|
rs876657846
|
|
NM_002294.3(LAMP2):c.1117G>A (p.Asp373Asn)
|
rs727503117
|
|
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr)
|
rs727504625
|
|
NM_002294.3(LAMP2):c.184-7C>G
|
rs397516737
|
|
NM_002294.3(LAMP2):c.371C>T (p.Thr124Ile)
|
rs397516744
|
|
NM_002294.3(LAMP2):c.56T>G (p.Leu19Arg)
|
rs397516745
|
|
NM_002294.3(LAMP2):c.602T>C (p.Ile201Thr)
|
rs876657844
|
|
NM_002294.3(LAMP2):c.610A>C (p.Thr204Pro)
|
rs876657845
|
|
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys)
|
rs397516748
|
|
NM_002294.3(LAMP2):c.845T>G (p.Leu282Arg)
|
rs397516749
|
|
NM_002294.3(LAMP2):c.865-3C>A
|
rs397516753
|
|
NM_002354.3(EPCAM):c.50C>T (p.Thr17Met)
|
rs116429842
|
|
NM_002458.3(MUC5B):c.7663del (p.Thr2555fs)
|
rs1060499877
|
|
NM_002471.4(MYH6):c.104C>G (p.Thr35Ser)
|
rs876657875
|
|
NM_002471.4(MYH6):c.1112A>G (p.Glu371Gly)
|
rs397516754
|
|
NM_002471.4(MYH6):c.1328G>C (p.Arg443Pro)
|
rs202096001
|
|
NM_002471.4(MYH6):c.1425G>C (p.Glu475Asp)
|
rs397516755
|
|
NM_002471.4(MYH6):c.2368A>G (p.Met790Val)
|
rs764284030
|
|
NM_002471.4(MYH6):c.245C>T (p.Pro82Leu)
|
rs529427223
|
|
NM_002471.4(MYH6):c.2599A>G (p.Lys867Glu)
|
rs397516759
|
|
NM_002471.4(MYH6):c.3181C>A (p.Leu1061Met)
|
rs727503237
|
|
NM_002471.4(MYH6):c.3285G>T (p.Lys1095Asn)
|
rs864309578
|
|
NM_002471.4(MYH6):c.3324G>T (p.Lys1108Asn)
|
rs727505164
|
|
NM_002471.4(MYH6):c.3382C>T (p.Arg1128Cys)
|
rs727505211
|
|
NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln)
|
rs543585784
|
|
NM_002471.4(MYH6):c.3437dup (p.Glu1147fs)
|
rs397516761
|
|
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg)
|
rs564367705
|
|
NM_002471.4(MYH6):c.3857A>T (p.Asn1286Ile)
|
rs772586397
|
|
NM_002471.4(MYH6):c.3979-7_3979-5del
|
rs397516764
|
|
NM_002471.4(MYH6):c.3979-7_3979-6del
|
rs796313537
|
|
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC
|
rs727503235
|
|
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC
|
rs796876119
|
|
NM_002471.4(MYH6):c.3995C>T (p.Ala1332Val)
|
rs876657876
|
|
NM_002471.4(MYH6):c.4064C>T (p.Ala1355Val)
|
rs397516767
|
|
NM_002471.4(MYH6):c.4175+1G>C
|
rs727505128
|
|
NM_002471.4(MYH6):c.4207G>A (p.Glu1403Lys)
|
rs769398160
|
|
NM_002471.4(MYH6):c.4360-7C>G
|
rs58949384
|
|
NM_002471.4(MYH6):c.4430G>A (p.Arg1477His)
|
rs147586142
|
|
NM_002471.4(MYH6):c.4595G>A (p.Arg1532His)
|
rs34330111
|
|
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu)
|
rs34330111
|
|
NM_002471.4(MYH6):c.5062G>A (p.Glu1688Lys)
|
rs727504739
|
|
NM_002471.4(MYH6):c.5296A>G (p.Met1766Val)
|
rs397516776
|
|
NM_002471.4(MYH6):c.5700G>C (p.Lys1900Asn)
|
rs397516778
|
|
NM_002471.4(MYH6):c.879C>G (p.Asn293Lys)
|
rs752600386
|
|
NM_002473.6(MYH9):c.1468GAG[1] (p.Glu491del)
|
rs1556635817
|
|
NM_002473.6(MYH9):c.170A>T (p.Glu57Val)
|
rs751041617
|
|
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr)
|
rs762745890
|
|
NM_002473.6(MYH9):c.3215C>T (p.Ala1072Val)
|
rs1556631812
|
|
NM_002473.6(MYH9):c.3272+3G>T
|
rs1238385506
|
|
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu)
|
rs727504829
|
|
NM_002473.6(MYH9):c.437T>A (p.Met146Lys)
|
rs727503294
|
|
NM_002473.6(MYH9):c.4598A>G (p.Gln1533Arg)
|
rs876657892
|
|
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp)
|
rs569541375
|
|
NM_002473.6(MYH9):c.5225_5239del (p.Gln1742_Glu1746del)
|
rs876657893
|
|
NM_002473.6(MYH9):c.5766-13_5766-2dup
|
rs1603482655
|
|
NM_002473.6(MYH9):c.637C>T (p.Gln213Ter)
|
rs727503292
|
|
NM_002473.6(MYH9):c.659C>T (p.Ala220Val)
|
rs1190062913
|
|
NM_002473.6(MYH9):c.859C>T (p.His287Tyr)
|
rs727503291
|
|
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr)
|
rs773998062
|
|
NM_002474.3(MYH11):c.3778C>T (p.Gln1260Ter)
|
rs1060499879
|
|
NM_002524.5(NRAS):c.368G>A (p.Arg123Lys)
|
rs727503347
|
|
NM_002667.5(PLN):c.14A>G (p.Gln5Arg)
|
rs876657954
|
|
NM_002667.5(PLN):c.152T>C (p.Leu51Pro)
|
rs397516783
|
|
NM_002667.5(PLN):c.2T>C (p.Met1Thr)
|
rs727503374
|
|
NM_002667.5(PLN):c.37dup (p.Arg13fs)
|
rs727503375
|
|
NM_002667.5(PLN):c.43G>A (p.Ala15Thr)
|
rs397516785
|
|
NM_002667.5(PLN):c.67C>G (p.Gln23Glu)
|
rs876657955
|
|
NM_002691.4(POLD1):c.1240A>G (p.Lys414Glu)
|
rs1555790592
|
|
NM_002691.4(POLD1):c.1735G>A (p.Glu579Lys)
|
rs1354117345
|
|
NM_002691.4(POLD1):c.2154+2T>C
|
rs1555792026
|
|
NM_002691.4(POLD1):c.2797G>T (p.Val933Leu)
|
rs764785216
|
|
NM_002691.4(POLD1):c.2824C>G (p.Pro942Ala)
|
rs1203736050
|
|
NM_002691.4(POLD1):c.3023G>A (p.Arg1008His)
|
rs763747258
|
|
NM_002691.4(POLD1):c.487G>T (p.Asp163Tyr)
|
rs753299061
|
|
NM_002691.4(POLD1):c.632G>A (p.Arg211His)
|
rs373192520
|
|
NM_002700.3(POU4F3):c.256G>C (p.Val86Leu)
|
rs1581278182
|
|
NM_002700.3(POU4F3):c.491C>T (p.Pro164Leu)
|
rs367737951
|
|
NM_002700.3(POU4F3):c.709T>G (p.Ser237Ala)
|
rs876657956
|
|
NM_002700.3(POU4F3):c.836C>G (p.Thr279Arg)
|
rs762710510
|
|
NM_002700.3(POU4F3):c.856A>G (p.Lys286Glu)
|
rs1760435357
|
|
NM_002700.3(POU4F3):c.901T>C (p.Ser301Pro)
|
rs1554087691
|
|
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys)
|
rs149303333
|
|
NM_002755.4(MAP2K1):c.323G>A (p.Arg108Gln)
|
rs727504819
|
|
NM_002755.4(MAP2K1):c.568+1G>A
|
rs730880505
|
|
NM_002755.4(MAP2K1):c.729G>T (p.Gln243His)
|
rs772752167
|
|
NM_002755.4(MAP2K1):c.803C>T (p.Ala268Val)
|
rs757459909
|
|
NM_002755.4(MAP2K1):c.875C>G (p.Thr292Ser)
|
rs397516794
|
|
NM_002772.3(TMPRSS15):c.2042dup (p.Asn682fs)
|
rs1284864421
|
|
NM_002834.5(PTPN11):c.119A>G (p.Asp40Gly)
|
rs397516795
|
|
NM_002834.5(PTPN11):c.1225-7A>G
|
rs727504397
|
|
NM_002834.5(PTPN11):c.1374C>A (p.His458Gln)
|
rs727504393
|
|
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)
|
rs397509344
|
|
NM_002834.5(PTPN11):c.1724A>G (p.Asp575Gly)
|
rs397516799
|
|
NM_002834.5(PTPN11):c.348T>A (p.His116Gln)
|
rs1482410266
|
|
NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala)
|
rs768555552
|
|
NM_002834.5(PTPN11):c.661A>T (p.Ile221Leu)
|
rs397516806
|
|
NM_002834.5(PTPN11):c.858T>A (p.Asp286Glu)
|
rs397516811
|
|
NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTAGTTACAGTTCAAGAAG
|
rs3215098
|
|
NM_002880.3(RAF1):c.(?_-26)-50_(1370_?)+72dup
|
|
|
NM_002880.3(RAF1):c.1804-11_1804-7dup
|
rs727503382
|
|
NM_002880.4(RAF1):c.-40C>T
|
rs727503385
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
NM_002880.4(RAF1):c.1528C>T (p.Leu510Phe)
|
rs397516816
|
|
NM_002880.4(RAF1):c.1708C>G (p.Leu570Val)
|
rs876657966
|
|
NM_002880.4(RAF1):c.172A>C (p.Ile58Leu)
|
rs147984543
|
|
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn)
|
rs773583951
|
|
NM_002880.4(RAF1):c.1927C>T (p.Pro643Ser)
|
rs876657967
|
|
NM_002880.4(RAF1):c.329C>T (p.Ala110Val)
|
rs397516819
|
|
NM_002880.4(RAF1):c.379C>G (p.Gln127Glu)
|
rs397516820
|
|
NM_002880.4(RAF1):c.388T>A (p.Phe130Ile)
|
rs397516821
|
|
NM_002880.4(RAF1):c.419A>G (p.Asn140Ser)
|
rs876657968
|
|
NM_002880.4(RAF1):c.424G>T (p.Ala142Ser)
|
rs1553614748
|
|
NM_002880.4(RAF1):c.512A>G (p.Lys171Arg)
|
rs876657969
|
|
NM_002880.4(RAF1):c.775T>G (p.Ser259Ala)
|
rs3730271
|
|
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)
|
rs397516827
|
|
NM_002906.4(RDX):c.119G>T (p.Arg40Leu)
|
rs771175890
|
|
NM_002906.4(RDX):c.959+3dup
|
rs397516832
|
|
NM_003000.2(SDHB):c.*159_*184delinsGAACCTGTTCCTTTACTTGCCCCAA
|
rs727503414
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
NM_003000.3(SDHB):c.415C>T (p.Leu139Phe)
|
rs397516834
|
|
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys)
|
rs878854582
|
|
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)
|
rs74315369
|
|
NM_003238.6(TGFB2):c.739G>A (p.Glu247Lys)
|
rs1558262454
|
|
NM_003242.6(TGFBR2):c.-8G>A
|
rs727504344
|
|
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro)
|
rs727503473
|
|
NM_003242.6(TGFBR2):c.1082_1084del (p.Leu361del)
|
rs727503474
|
|
NM_003242.6(TGFBR2):c.118G>A (p.Asp40Asn)
|
rs397516837
|
|
NM_003242.6(TGFBR2):c.1282G>C (p.Glu428Gln)
|
rs397516838
|
|
NM_003242.6(TGFBR2):c.1418C>A (p.Pro473Gln)
|
rs397516839
|
|
NM_003242.6(TGFBR2):c.1570G>T (p.Asp524Tyr)
|
rs727504421
|
|
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)
|
rs727503476
|
|
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu)
|
rs376815143
|
|
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)
|
rs727504406
|
|
NM_003242.6(TGFBR2):c.934G>A (p.Glu312Lys)
|
rs397516841
|
|
NM_003280.3(TNNC1):c.157A>G (p.Thr53Ala)
|
rs1553651742
|
|
NM_003280.3(TNNC1):c.24+1G>A
|
rs727503498
|
|
NM_003280.3(TNNC1):c.394G>A (p.Asp132Asn)
|
rs397516846
|
|
NM_003280.3(TNNC1):c.445G>A (p.Asp149Asn)
|
rs397516849
|
|
NM_003280.3(TNNC1):c.5A>G (p.Asp2Gly)
|
rs397516850
|
|
NM_003280.3(TNNC1):c.74_82del (p.Asp25_Phe27del)
|
rs727503496
|
|
NM_003280.3(TNNC1):c.97G>A (p.Asp33Asn)
|
rs727503494
|
|
NM_003319.4(TTN):c.13282+23498dup
|
rs727503644
|
|
NM_003319.4(TTN):c.19326_19406del (p.Lys6442_His6469delinsAsn)
|
rs1553713878
|
|
NM_003319.4(TTN):c.20966-11dup
|
rs730880371
|
|
NM_003319.4(TTN):c.53810_53833del (p.Gly17937_Ile17944del)
|
rs727504756
|
|
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser)
|
rs367827746
|
|
NM_003476.5(CSRP3):c.282-5_285del
|
rs397516855
|
|
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp)
|
rs876657767
|
|
NM_003476.5(CSRP3):c.47C>T (p.Thr16Ile)
|
rs397516857
|
|
NM_003476.5(CSRP3):c.509-3_509-2del
|
rs397516858
|
|
NM_003476.5(CSRP3):c.539G>T (p.Gly180Val)
|
rs727504899
|
|
NM_003476.5(CSRP3):c.579_582del (p.Lys193fs)
|
rs727502946
|
|
NM_003573.2(LTBP4):c.304A>G (p.Arg102Gly)
|
rs553283319
|
|
NM_003672.4(CDC14A):c.1755+20C>T
|
rs1252516734
|
|
NM_003672.4(CDC14A):c.28G>C (p.Gly10Arg)
|
rs571098288
|
|
NM_003672.4(CDC14A):c.374C>G (p.Pro125Arg)
|
rs200941208
|
|
NM_003672.4(CDC14A):c.394G>T (p.Ala132Ser)
|
rs1664742874
|
|
NM_003673.4(TCAP):c.388C>A (p.Arg130Ser)
|
rs374886575
|
|
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser)
|
rs397516863
|
|
NM_003673.4(TCAP):c.493C>G (p.Gln165Glu)
|
rs397516865
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
NM_003803.3(MYOM1):c.1175_1339[3] (p.Asn446_Gly447insValGlyValThrProTyrGlyTyrAlaSerArgPheGluIleHisPheAspAspLysPheAspValSerPheGlyArgGluGlyGluThrMetSerLeuGlyCysArgValValIleThrProGluIleLysHisPheGlnProGluIleGlnTrpTyrArgAsnValGlyValThrProTyrGlyTyrAlaSerArgPheGluIleHisPheAspAspL...(Total 360))
|
rs1598739432
|
|
NM_003803.3(MYOM1):c.[64_66delGTGinsCTC;65T>G]
|
|
|
NM_003803.4(MYOM1):c.1235A>G (p.Asp412Gly)
|
rs767444514
|
|
NM_003803.4(MYOM1):c.1668del (p.Trp556fs)
|
rs876657916
|
|
NM_003803.4(MYOM1):c.2383C>G (p.Arg795Gly)
|
rs201618512
|
|
NM_003803.4(MYOM1):c.335T>G (p.Leu112Trp)
|
rs868781965
|
|
NM_003803.4(MYOM1):c.476_479del (p.Ile159fs)
|
rs876657920
|
|
NM_003865.3(HESX1):c.511_512del (p.Gln171fs)
|
rs752434998
|
|
NM_004004.5(GJB2):c.-208G>T
|
rs1555342246
|
|
NM_004004.6(GJB2):c.280C>T (p.His94Tyr)
|
rs1593351383
|
|
NM_004004.6(GJB2):c.281A>T (p.His94Leu)
|
rs397516872
|
|
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly)
|
rs111033441
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
|
NM_004004.6(GJB2):c.470T>C (p.Met157Thr)
|
rs727504789
|
|
NM_004004.6(GJB2):c.50C>G (p.Ser17Cys)
|
rs28929485
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
NM_004006.3(DMD):c.-10A>T
|
rs1557300175
|
|
NM_004006.3(DMD):c.1248A>T (p.Glu416Asp)
|
rs876657777
|
|
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser)
|
rs766450050
|
|
NM_004006.3(DMD):c.2950-9G>T
|
rs772822759
|
|
NM_004006.3(DMD):c.4082G>C (p.Arg1361Thr)
|
rs753639717
|
|
NM_004006.3(DMD):c.640G>A (p.Asp214Asn)
|
rs876657781
|
|
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup)
|
rs1395996899
|
|
NM_004006.3(DMD):c.9362-3C>T
|
rs752816247
|
|
NM_004085.4(TIMM8A):c.282C>A (p.Ser94Arg)
|
rs1443740723
|
|
NM_004100.4(EYA4):c.724_(804_?)del
|
|
|
NM_004100.5(EYA4):c.1097G>A (p.Ser366Asn)
|
rs727503052
|
|
NM_004100.5(EYA4):c.1667T>C (p.Leu556Pro)
|
rs1583561006
|
|
NM_004100.5(EYA4):c.1739-85_1739-81del
|
rs727503053
|
|
NM_004100.5(EYA4):c.374T>C (p.Ile125Thr)
|
rs770929581
|
|
NM_004100.5(EYA4):c.829G>C (p.Gly277Arg)
|
rs9493627
|
|
NM_004100.5(EYA4):c.902_907dup (p.Gly302_Thr303insAsnGly)
|
rs727503051
|
|
NM_004100.5(EYA4):c.96G>A (p.Met32Ile)
|
rs1792872485
|
|
NM_004281.4(BAG3):c.1015A>G (p.Ile339Val)
|
rs757353917
|
|
NM_004281.4(BAG3):c.1274T>A (p.Val425Glu)
|
rs727502901
|
|
NM_004281.4(BAG3):c.200A>G (p.Asn67Ser)
|
rs572036022
|
|
NM_004281.4(BAG3):c.317G>A (p.Arg106Gln)
|
rs1200121142
|
|
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly)
|
rs572038196
|
|
NM_004281.4(BAG3):c.49G>C (p.Gly17Arg)
|
rs727502895
|
|
NM_004281.4(BAG3):c.55C>A (p.Arg19Ser)
|
rs727502896
|
|
NM_004281.4(BAG3):c.695A>T (p.His232Leu)
|
rs746241240
|
|
NM_004281.4(BAG3):c.910-10C>G
|
rs727502899
|
|
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln)
|
rs3832799
|
|
NM_004316.4(ASCL1):c.151CAG[17] (p.Gln62_Ala63insGlnGlnGlnGlnGln)
|
rs3832799
|
|
NM_004333.6(BRAF):c.-95GCCTCC[3]
|
rs727502907
|
|
NM_004333.6(BRAF):c.1040G>C (p.Arg347Pro)
|
rs397516884
|
|
NM_004333.6(BRAF):c.1055A>G (p.Asp352Gly)
|
rs201882896
|
|
NM_004333.6(BRAF):c.1405G>T (p.Gly469Ter)
|
rs121913357
|
|
NM_004333.6(BRAF):c.1488A>C (p.Gln496His)
|
rs1554399258
|
|
NM_004333.6(BRAF):c.1756G>A (p.Glu586Lys)
|
rs121913340
|
|
NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys)
|
rs121913361
|
|
NM_004333.6(BRAF):c.469G>A (p.Val157Ile)
|
rs1258111302
|
|
NM_004333.6(BRAF):c.527C>T (p.Thr176Ile)
|
rs780556975
|
|
NM_004333.6(BRAF):c.653C>G (p.Thr218Ser)
|
rs1554404461
|
|
NM_004333.6(BRAF):c.739T>G (p.Phe247Val)
|
rs397516903
|
|
NM_004387.4(NKX2-5):c.437C>G (p.Ser146Trp)
|
rs397516909
|
|
NM_004403.3(GSDME):c.119dup (p.Lys41fs)
|
rs758488919
|
|
NM_004409.5(DMPK):c.161-62dup
|
rs751073998
|
|
NM_004415.4(DSP):c.1045-8T>A
|
rs201633815
|
|
NM_004415.4(DSP):c.1112A>C (p.His371Pro)
|
rs397516912
|
|
NM_004415.4(DSP):c.1264G>A (p.Glu422Lys)
|
rs397516914
|
|
NM_004415.4(DSP):c.12C>G (p.Asn4Lys)
|
rs368802003
|
|
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro)
|
rs727504661
|
|
NM_004415.4(DSP):c.1484T>C (p.Val495Ala)
|
rs727504518
|
|
NM_004415.4(DSP):c.1517C>T (p.Pro506Leu)
|
rs876657793
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
NM_004415.4(DSP):c.170+11G>T
|
rs727505007
|
|
NM_004415.4(DSP):c.170+5G>A
|
rs727502996
|
|
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro)
|
rs373804924
|
|
NM_004415.4(DSP):c.2794-7T>C
|
rs397516926
|
|
NM_004415.4(DSP):c.3119A>G (p.Glu1040Gly)
|
rs727505147
|
|
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val)
|
rs397516931
|
|
NM_004415.4(DSP):c.3392G>C (p.Arg1131Thr)
|
rs876657794
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
NM_004415.4(DSP):c.3935C>G (p.Ser1312Cys)
|
rs1554108214
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
NM_004415.4(DSP):c.4156G>A (p.Glu1386Lys)
|
rs397516935
|
|
NM_004415.4(DSP):c.4172A>G (p.Tyr1391Cys)
|
rs727504547
|
|
NM_004415.4(DSP):c.4288A>T (p.Ile1430Phe)
|
rs397516937
|
|
NM_004415.4(DSP):c.4472A>T (p.Asp1491Val)
|
rs397516938
|
|
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del)
|
rs397516939
|
|
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile)
|
rs397516941
|
|
NM_004415.4(DSP):c.4723G>A (p.Glu1575Lys)
|
rs727503002
|
|
NM_004415.4(DSP):c.5107A>T (p.Ile1703Phe)
|
rs868035157
|
|
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del)
|
rs730880091
|
|
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu)
|
rs727504871
|
|
NM_004415.4(DSP):c.5767G>A (p.Glu1923Lys)
|
rs397516948
|
|
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val)
|
rs876657796
|
|
NM_004415.4(DSP):c.6557T>G (p.Leu2186Arg)
|
rs876657797
|
|
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys)
|
rs397516952
|
|
NM_004415.4(DSP):c.6610C>T (p.Gln2204Ter)
|
rs876657798
|
|
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr)
|
rs377085222
|
|
NM_004415.4(DSP):c.6885A>T (p.Gln2295His)
|
rs397516954
|
|
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys)
|
rs28931610
|
|
NM_004415.4(DSP):c.8020G>A (p.Ala2674Thr)
|
rs397516961
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
NM_004415.4(DSP):c.8365A>G (p.Ile2789Val)
|
rs397516965
|
|
NM_004415.4(DSP):c.8576_8577del (p.Ser2859fs)
|
rs727504909
|
|
NM_004415.4(DSP):c.868G>A (p.Glu290Lys)
|
rs397516974
|
|
NM_004415.4(DSP):c.877G>A (p.Glu293Lys)
|
rs876657799
|
|
NM_004415.4(DSP):c.895A>G (p.Ser299Gly)
|
rs876657801
|
|
NM_004415.4(DSP):c.927G>T (p.Gln309His)
|
rs876657800
|
|
NM_004415.4(DSP):c.992A>C (p.Gln331Pro)
|
rs746517026
|
|
NM_004447.6(EPS8):c.1396C>T (p.His466Tyr)
|
rs747454900
|
|
NM_004447.6(EPS8):c.1789C>A (p.Arg597Ser)
|
rs754905499
|
|
NM_004448.4(ERBB2):c.2326_2327insTCT (p.Gly776delinsValCys)
|
rs397516979
|
|
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu)
|
rs121913471
|
|
NM_004517.4(ILK):c.1285A>G (p.Met429Val)
|
rs1554900131
|
|
NM_004517.4(ILK):c.211del (p.Leu71fs)
|
rs776120061
|
|
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
|
rs55774500
|
|
NM_004568.6(SERPINB6):c.-3A>G
|
rs779093042
|
|
NM_004568.6(SERPINB6):c.1042C>T (p.Arg348Cys)
|
rs774270238
|
|
NM_004568.6(SERPINB6):c.251C>T (p.Thr84Met)
|
rs538616923
|
|
NM_004568.6(SERPINB6):c.383A>G (p.Glu128Gly)
|
rs1329989490
|
|
NM_004568.6(SERPINB6):c.503A>G (p.Tyr168Cys)
|
rs876657997
|
|
NM_004612.4(TGFBR1):c.1058_1059insCAATA (p.Leu354fs)
|
rs1060499908
|
|
NM_004612.4(TGFBR1):c.203A>G (p.Asn68Ser)
|
rs727503469
|
|
NM_004612.4(TGFBR1):c.24del (p.Arg9fs)
|
rs1060499907
|
|
NM_004612.4(TGFBR1):c.596G>A (p.Arg199Lys)
|
rs397517032
|
|
NM_004612.4(TGFBR1):c.640G>T (p.Gly214Cys)
|
rs727503470
|
|
NM_004612.4(TGFBR1):c.779T>A (p.Leu260Gln)
|
rs397517033
|
|
NM_004612.4(TGFBR1):c.799A>G (p.Asn267Asp)
|
rs727503471
|
|
NM_004612.4(TGFBR1):c.994_999del (p.Arg332_Asp333del)
|
rs727504383
|
|
NM_004700.4(KCNQ4):c.1017G>T (p.Arg339Ser)
|
rs769086004
|
|
NM_004700.4(KCNQ4):c.1051C>T (p.Arg351Cys)
|
rs1167593525
|
|
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg)
|
rs368294870
|
|
NM_004700.4(KCNQ4):c.1283C>T (p.Pro428Leu)
|
rs932108929
|
|
NM_004700.4(KCNQ4):c.1406A>G (p.Gln469Arg)
|
rs1553168273
|
|
NM_004700.4(KCNQ4):c.1611C>G (p.Ile537Met)
|
rs876657837
|
|
NM_004700.4(KCNQ4):c.1801G>T (p.Asp601Tyr)
|
rs876657838
|
|
NM_004700.4(KCNQ4):c.1954C>G (p.Leu652Val)
|
rs727505133
|
|
NM_004700.4(KCNQ4):c.1957G>A (p.Gly653Ser)
|
rs876657839
|
|
NM_004700.4(KCNQ4):c.751T>C (p.Phe251Leu)
|
rs1000705787
|
|
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del)
|
rs797044966
|
|
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)
|
rs956666801
|
|
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg)
|
rs727504459
|
|
NM_004700.4(KCNQ4):c.857A>G (p.Tyr286Cys)
|
rs876657841
|
|
NM_004817.4(TJP2):c.1035C>A (p.His345Gln)
|
rs144213955
|
|
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)
|
rs727504461
|
|
NM_004817.4(TJP2):c.1444del (p.Asp482fs)
|
rs727503479
|
|
NM_004817.4(TJP2):c.2880+4A>G
|
rs727505327
|
|
NM_004817.4(TJP2):c.3500G>A (p.Arg1167His)
|
rs370985421
|
|
NM_004949.5(DSC2):c.1234dup (p.Thr412fs)
|
rs397517390
|
|
NM_004985.5(KRAS):c.-148_-137del
|
rs727504386
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
NM_004985.5(KRAS):c.180T>A (p.Gly60=)
|
rs397517037
|
|
NM_004985.5(KRAS):c.228G>A (p.Glu76=)
|
rs727503107
|
|
NM_004985.5(KRAS):c.470A>G (p.Tyr157Cys)
|
rs794727720
|
|
NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs)
|
rs763461489
|
|
NM_004999.4(MYO6):c.1250A>G (p.Asn417Ser)
|
rs1554210769
|
|
NM_004999.4(MYO6):c.1264G>A (p.Ala422Thr)
|
rs1583287198
|
|
NM_004999.4(MYO6):c.1516G>T (p.Val506Leu)
|
rs1554211583
|
|
NM_004999.4(MYO6):c.1881CAA[1] (p.Asn628del)
|
rs1233700794
|
|
NM_004999.4(MYO6):c.2107G>C (p.Gly703Arg)
|
rs753163582
|
|
NM_004999.4(MYO6):c.2548C>G (p.Leu850Val)
|
rs397517047
|
|
NM_004999.4(MYO6):c.2562T>A (p.Asn854Lys)
|
rs1583365903
|
|
NM_004999.4(MYO6):c.2779A>G (p.Arg927Gly)
|
rs986223790
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
NM_004999.4(MYO6):c.2911A>G (p.Arg971Gly)
|
rs397517049
|
|
NM_004999.4(MYO6):c.292A>G (p.Asn98Asp)
|
rs876657910
|
|
NM_004999.4(MYO6):c.3326T>C (p.Leu1109Pro)
|
rs1554222430
|
|
NM_004999.4(MYO6):c.3391C>T (p.Pro1131Ser)
|
rs727503327
|
|
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp)
|
rs876657911
|
|
NM_004999.4(MYO6):c.3644T>C (p.Ile1215Thr)
|
rs1554223853
|
|
NM_004999.4(MYO6):c.3646C>G (p.Leu1216Val)
|
rs876657908
|
|
NM_004999.4(MYO6):c.3833C>T (p.Ala1278Val)
|
rs397517052
|
|
NM_004999.4(MYO6):c.470A>G (p.Lys157Arg)
|
rs397517053
|
|
NM_004999.4(MYO6):c.558C>A (p.Asn186Lys)
|
rs397517054
|
|
NM_005159.5(ACTC1):c.*3T>C
|
rs727504415
|
|
NM_005159.5(ACTC1):c.1039A>G (p.Ile347Val)
|
rs727505192
|
|
NM_005159.5(ACTC1):c.1084C>T (p.Gln362Ter)
|
rs876657738
|
|
NM_005159.5(ACTC1):c.186del (p.Ser62fs)
|
rs876657739
|
|
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser)
|
rs397517059
|
|
NM_005159.5(ACTC1):c.355G>C (p.Glu119Gln)
|
rs397517060
|
|
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)
|
rs397517061
|
|
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)
|
rs727504308
|
|
NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn)
|
rs397517063
|
|
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu)
|
rs1555418829
|
|
NM_005159.5(ACTC1):c.616+1G>A
|
rs111904141
|
|
NM_005159.5(ACTC1):c.635G>A (p.Arg212His)
|
rs397517067
|
|
NM_005159.5(ACTC1):c.646G>T (p.Glu216Ter)
|
rs1060499837
|
|
NM_005159.5(ACTC1):c.739G>A (p.Gly247Ser)
|
rs727505330
|
|
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met)
|
rs371940910
|
|
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn)
|
rs727504399
|
|
NM_005159.5(ACTC1):c.7G>C (p.Asp3His)
|
rs397517069
|
|
NM_005159.5(ACTC1):c.808+3G>A
|
rs397517070
|
|
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val)
|
rs397517072
|
|
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe)
|
rs397517073
|
|
NM_005159.5(ACTC1):c.854T>C (p.Met285Thr)
|
rs869025354
|
|
NM_005186.4(CAPN1):c.1919T>G (p.Met640Arg)
|
rs752166957
|
|
NM_005188.4(CBL):c.1129A>G (p.Thr377Ala)
|
rs727502914
|
|
NM_005188.4(CBL):c.1283_1384del (p.Pro428_Glu461del)
|
rs1555230119
|
|
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu)
|
rs727504640
|
|
NM_005188.4(CBL):c.2185T>C (p.Cys729Arg)
|
rs1950071650
|
|
NM_005188.4(CBL):c.2589C>G (p.Asn863Lys)
|
rs397517081
|
|
NM_005219.4(DIAPH1):c.3439-3del
|
rs1335130331
|
|
NM_005219.5(DIAPH1):c.1460A>G (p.Lys487Arg)
|
rs1596381751
|
|
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg)
|
rs369255077
|
|
NM_005219.5(DIAPH1):c.2525A>G (p.Gln842Arg)
|
rs200220260
|
|
NM_005219.5(DIAPH1):c.3526C>T (p.Arg1176Trp)
|
rs763106782
|
|
NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp)
|
rs761387295
|
|
NM_005228.5(EGFR):c.2065G>C (p.Val689Leu)
|
rs397517083
|
|
NM_005228.5(EGFR):c.2117T>C (p.Ile706Thr)
|
rs397517084
|
|
NM_005228.5(EGFR):c.2126A>C (p.Glu709Ala)
|
rs397517085
|
|
NM_005228.5(EGFR):c.2126A>T (p.Glu709Val)
|
rs397517085
|
|
NM_005228.5(EGFR):c.2127_2130delinsC (p.Glu709_Thr710delinsAsp)
|
rs397517087
|
|
NM_005228.5(EGFR):c.2154G>A (p.Leu718=)
|
rs397517088
|
|
NM_005228.5(EGFR):c.2154G>T (p.Leu718=)
|
rs397517088
|
|
NM_005228.5(EGFR):c.2192G>A (p.Trp731Ter)
|
rs397517089
|
|
NM_005228.5(EGFR):c.2217_2234dup (p.Ile740_Lys745dup)
|
rs397517090
|
|
NM_005228.5(EGFR):c.2219T>C (p.Ile740Thr)
|
rs397517092
|
|
NM_005228.5(EGFR):c.2239T>C (p.Leu747=)
|
rs397517095
|
|
NM_005228.5(EGFR):c.2239_2240delinsCC (p.Leu747Pro)
|
rs397517096
|
|
NM_005228.5(EGFR):c.2240T>C (p.Leu747Ser)
|
rs397517097
|
|
NM_005228.5(EGFR):c.2247_2264del (p.Glu749_Ala755delinsAsp)
|
rs397517099
|
|
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)
|
rs121913229
|
|
NM_005228.5(EGFR):c.2251_2275del (p.Thr751fs)
|
rs727504284
|
|
NM_005228.5(EGFR):c.2252_2277delinsAA (p.Thr751_Ile759delinsLys)
|
rs397517100
|
|
NM_005228.5(EGFR):c.2260A>G (p.Lys754Glu)
|
rs397517101
|
|
NM_005228.5(EGFR):c.2270A>T (p.Lys757Met)
|
rs397517102
|
|
NM_005228.5(EGFR):c.2277_2278insT (p.Leu760fs)
|
rs727503018
|
|
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr)
|
rs121913418
|
|
NM_005228.5(EGFR):c.2283+12_2283+147del
|
rs1554348955
|
|
NM_005228.5(EGFR):c.2283+1G>A
|
rs397517104
|
|
NM_005228.5(EGFR):c.2284-5_2290del
|
rs397517105
|
|
NM_005228.5(EGFR):c.2300C>T (p.Ala767Val)
|
rs397517107
|
|
NM_005228.5(EGFR):c.2305G>C (p.Val769Leu)
|
rs147149347
|
|
NM_005228.5(EGFR):c.2305G>T (p.Val769Leu)
|
rs147149347
|
|
NM_005228.5(EGFR):c.2313_2321dup (p.Pro772_Val774dup)
|
rs397517113
|
|
NM_005228.5(EGFR):c.2317_2319dup (p.His773dup)
|
rs1554350381
|
|
NM_005228.5(EGFR):c.2334G>T (p.Leu778=)
|
rs397517118
|
|
NM_005228.5(EGFR):c.2335G>T (p.Gly779Cys)
|
rs397517119
|
|
NM_005228.5(EGFR):c.2336G>T (p.Gly779Val)
|
rs397517120
|
|
NM_005228.5(EGFR):c.2497T>G (p.Leu833Val)
|
rs397517126
|
|
NM_005228.5(EGFR):c.2500G>C (p.Val834Leu)
|
rs397517127
|
|
NM_005228.5(EGFR):c.2504A>T (p.His835Leu)
|
rs397517128
|
|
NM_005228.5(EGFR):c.2504_2591del (p.His835fs)
|
rs1554353237
|
|
NM_005228.5(EGFR):c.2572C>A (p.Leu858Met)
|
rs121913443
|
|
NM_005228.5(EGFR):c.2574G>T (p.Leu858=)
|
rs397517129
|
|
NM_005228.5(EGFR):c.2580A>T (p.Lys860Asn)
|
rs397517130
|
|
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg)
|
rs121913444
|
|
NM_005228.5(EGFR):c.2597A>T (p.Glu866Val)
|
rs397517132
|
|
NM_005228.5(EGFR):c.2612C>G (p.Ala871Gly)
|
rs397517134
|
|
NM_005228.5(EGFR):c.2642T>C (p.Met881Thr)
|
rs397517136
|
|
NM_005228.5(EGFR):c.2654C>T (p.Ser885Leu)
|
rs397517137
|
|
NM_005343.4(HRAS):c.401C>T (p.Ala134Val)
|
rs397517141
|
|
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser)
|
rs144001095
|
|
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp)
|
rs1554884750
|
|
NM_005359.6(SMAD4):c.1448-3T>A
|
rs1555687536
|
|
NM_005379.4(MYO1A):c.221A>C (p.Lys74Thr)
|
rs727503323
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
NM_005379.4(MYO1A):c.2920G>A (p.Glu974Lys)
|
rs370708976
|
|
NM_005379.4(MYO1A):c.829G>A (p.Val277Met)
|
rs141826192
|
|
NM_005411.5(SFTPA1):c.135C>G (p.Asp45Glu)
|
rs200941736
|
|
NM_005411.5(SFTPA1):c.626C>A (p.Thr209Asn)
|
rs1554854656
|
|
NM_005411.5(SFTPA1):c.646C>G (p.Pro216Ala)
|
rs876657998
|
|
NM_005411.5(SFTPA1):c.677A>G (p.Glu226Gly)
|
rs876657999
|
|
NM_005422.4(TECTA):c.187C>T (p.Arg63Cys)
|
rs876658015
|
|
NM_005422.4(TECTA):c.1917_1937dup (p.Ser640_Pro646dup)
|
rs1555123919
|
|
NM_005422.4(TECTA):c.1966G>A (p.Gly656Ser)
|
rs1555123944
|
|
NM_005422.4(TECTA):c.2032G>A (p.Glu678Lys)
|
rs727504744
|
|
NM_005422.4(TECTA):c.2378A>G (p.Gln793Arg)
|
rs727503459
|
|
NM_005422.4(TECTA):c.2995A>G (p.Thr999Ala)
|
rs1408773314
|
|
NM_005422.4(TECTA):c.3925G>A (p.Ala1309Thr)
|
rs727504621
|
|
NM_005422.4(TECTA):c.4163G>T (p.Arg1388Leu)
|
rs150016625
|
|
NM_005422.4(TECTA):c.4510C>T (p.Arg1504Cys)
|
rs727505218
|
|
NM_005422.4(TECTA):c.4527C>G (p.Cys1509Trp)
|
rs727503464
|
|
NM_005422.4(TECTA):c.458C>T (p.Thr153Met)
|
rs1555121799
|
|
NM_005422.4(TECTA):c.4651G>A (p.Glu1551Lys)
|
rs1452561308
|
|
NM_005422.4(TECTA):c.5030G>T (p.Cys1677Phe)
|
rs759579205
|
|
NM_005422.4(TECTA):c.5074C>A (p.Leu1692Met)
|
rs1591461270
|
|
NM_005422.4(TECTA):c.5086G>A (p.Asp1696Asn)
|
rs1017300729
|
|
NM_005422.4(TECTA):c.5549T>G (p.Ile1850Ser)
|
rs1591463453
|
|
NM_005422.4(TECTA):c.5717_5718inv (p.Ile1906Arg)
|
|
|
NM_005422.4(TECTA):c.5743A>G (p.Met1915Val)
|
rs749089815
|
|
NM_005422.4(TECTA):c.5999G>A (p.Gly2000Glu)
|
rs1591464681
|
|
NM_005422.4(TECTA):c.601G>T (p.Gly201Cys)
|
rs727503456
|
|
NM_005422.4(TECTA):c.6134G>T (p.Cys2045Phe)
|
rs1555132232
|
|
NM_005422.4(TECTA):c.6233G>T (p.Gly2078Val)
|
rs1555132399
|
|
NM_005422.4(TECTA):c.6236C>A (p.Pro2079His)
|
rs1555132402
|
|
NM_005422.4(TECTA):c.6346G>C (p.Glu2116Gln)
|
rs372023989
|
|
NM_005422.4(TECTA):c.721G>A (p.Val241Ile)
|
rs773034636
|
|
NM_005422.4(TECTA):c.850C>T (p.Arg284Cys)
|
rs1176214445
|
|
NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs)
|
rs774674047
|
|
NM_005548.3(KARS1):c.170A>T (p.Asn57Ile)
|
rs117041419
|
|
NM_005548.3(KARS1):c.1732AAG[1] (p.Lys579del)
|
rs753346124
|
|
NM_005548.3(KARS1):c.898C>T (p.Pro300Ser)
|
rs1555513082
|
|
NM_005619.5(RTN2):c.560-1G>T
|
rs876657982
|
|
NM_005633.4(SOS1):c.1412G>A (p.Cys471Tyr)
|
rs397517151
|
|
NM_005633.4(SOS1):c.1429C>A (p.Gln477Lys)
|
rs397517152
|
|
NM_005633.4(SOS1):c.1433C>T (p.Pro478Leu)
|
rs1553356111
|
|
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile)
|
rs1553356023
|
|
NM_005633.4(SOS1):c.2051C>T (p.Pro684Leu)
|
rs397517155
|
|
NM_005633.4(SOS1):c.2200A>C (p.Thr734Pro)
|
rs727503437
|
|
NM_005633.4(SOS1):c.2489A>T (p.Asn830Ile)
|
rs397517158
|
|
NM_005633.4(SOS1):c.2762C>G (p.Ser921Cys)
|
rs1553353332
|
|
NM_005633.4(SOS1):c.2918A>T (p.Gln973Leu)
|
rs727505016
|
|
NM_005633.4(SOS1):c.3568A>G (p.Lys1190Glu)
|
rs1553349579
|
|
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu)
|
rs141594736
|
|
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr)
|
rs371408734
|
|
NM_005633.4(SOS1):c.373C>A (p.Gln125Lys)
|
rs397517170
|
|
NM_005633.4(SOS1):c.3952T>A (p.Ser1318Thr)
|
rs397517171
|
|
NM_005633.4(SOS1):c.3971C>G (p.Pro1324Arg)
|
rs727503434
|
|
NM_005633.4(SOS1):c.511-12_511-11del
|
rs397517173
|
|
NM_005633.4(SOS1):c.512T>G (p.Val171Gly)
|
rs397517174
|
|
NM_005633.4(SOS1):c.668T>C (p.Ile223Thr)
|
rs397517176
|
|
NM_005912.3(MC4R):c.585C>G (p.Ile195Met)
|
rs1915346892
|
|
NM_005932.4(MIPEP):c.1727A>C (p.Gln576Pro)
|
rs1953152428
|
|
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser)
|
rs104894478
|
|
NM_005982.4(SIX1):c.487C>G (p.Leu163Val)
|
rs876658002
|
|
NM_006005.3(WFS1):c.1020C>G (p.Phe340Leu)
|
rs876658117
|
|
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala)
|
rs756869880
|
|
NM_006005.3(WFS1):c.1382C>T (p.Thr461Ile)
|
rs71530925
|
|
NM_006005.3(WFS1):c.1468A>G (p.Thr490Ala)
|
rs1553878548
|
|
NM_006005.3(WFS1):c.1645C>G (p.Leu549Val)
|
rs1801211
|
|
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr)
|
rs372783392
|
|
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys)
|
rs376626985
|
|
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu)
|
rs150465110
|
|
NM_006005.3(WFS1):c.2032T>G (p.Trp678Gly)
|
rs1578611784
|
|
NM_006005.3(WFS1):c.2080G>C (p.Glu694Gln)
|
rs727503751
|
|
NM_006005.3(WFS1):c.2278C>A (p.Leu760Met)
|
rs1553878931
|
|
NM_006005.3(WFS1):c.2293T>C (p.Cys765Arg)
|
rs727503752
|
|
NM_006005.3(WFS1):c.2323T>G (p.Phe775Val)
|
rs727503753
|
|
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu)
|
rs369107336
|
|
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp)
|
rs373310972
|
|
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met)
|
rs201102144
|
|
NM_006005.3(WFS1):c.2430C>G (p.Phe810Leu)
|
rs1553879021
|
|
NM_006005.3(WFS1):c.2516T>C (p.Val839Ala)
|
rs761114952
|
|
NM_006005.3(WFS1):c.2632G>A (p.Ala878Thr)
|
rs570527044
|
|
NM_006005.3(WFS1):c.2638G>C (p.Asp880His)
|
rs776324301
|
|
NM_006005.3(WFS1):c.436C>T (p.Arg146Cys)
|
rs1553876694
|
|
NM_006005.3(WFS1):c.61C>G (p.Pro21Ala)
|
rs757447631
|
|
NM_006005.3(WFS1):c.754A>G (p.Lys252Glu)
|
rs1553877330
|
|
NM_006005.3(WFS1):c.881A>T (p.His294Leu)
|
rs727503748
|
|
NM_006005.3(WFS1):c.889A>G (p.Met297Val)
|
rs1553878254
|
|
NM_006063.3(KLHL41):c.1167T>A (p.Cys389Ter)
|
rs757358433
|
|
NM_006073.4(TRDN):c.1369+3dup
|
rs537388823
|
|
NM_006073.4(TRDN):c.155T>A (p.Leu52Gln)
|
rs1554258798
|
|
NM_006073.4(TRDN):c.2126C>A (p.Ala709Glu)
|
rs876658032
|
|
NM_006073.4(TRDN):c.604_610+47del
|
rs1554251571
|
|
NM_006121.4(KRT1):c.1510+1G>T
|
rs1429588463
|
|
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)
|
rs397517199
|
|
NM_006231.4(POLE):c.1066C>T (p.Pro356Ser)
|
rs1555229220
|
|
NM_006231.4(POLE):c.1085A>G (p.Tyr362Cys)
|
rs1368897791
|
|
NM_006231.4(POLE):c.167C>T (p.Pro56Leu)
|
rs1555230404
|
|
NM_006231.4(POLE):c.1800TGA[3] (p.Asp601dup)
|
rs1593793500
|
|
NM_006231.4(POLE):c.1858C>T (p.Pro620Ser)
|
rs979085449
|
|
NM_006231.4(POLE):c.1A>T (p.Met1Leu)
|
rs878854847
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu)
|
rs36120395
|
|
NM_006231.4(POLE):c.2908G>A (p.Gly970Ser)
|
rs1480250083
|
|
NM_006231.4(POLE):c.3331C>T (p.Arg1111Trp)
|
rs774028311
|
|
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu)
|
rs864622698
|
|
NM_006231.4(POLE):c.3863C>T (p.Ala1288Val)
|
rs1467975024
|
|
NM_006231.4(POLE):c.4892G>T (p.Arg1631Leu)
|
rs775590365
|
|
NM_006231.4(POLE):c.5552+1G>A
|
rs1555221894
|
|
NM_006231.4(POLE):c.6016G>T (p.Ala2006Ser)
|
rs1328375671
|
|
NM_006231.4(POLE):c.6623del (p.Gln2208fs)
|
rs1555301070
|
|
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)
|
rs141361084
|
|
NM_006383.4(CIB2):c.557G>A (p.Arg186Gln)
|
rs1281648597
|
|
NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del
|
|
|
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys)
|
rs876657925
|
|
NM_006393.3(NEBL):c.1496T>G (p.Met499Arg)
|
rs727504620
|
|
NM_006393.3(NEBL):c.1963-3C>T
|
rs727504683
|
|
NM_006393.3(NEBL):c.2176G>A (p.Ala726Thr)
|
rs397517205
|
|
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser)
|
rs727505285
|
|
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu)
|
rs139809958
|
|
NM_006393.3(NEBL):c.625G>T (p.Ala209Ser)
|
rs142138590
|
|
NM_006644.4(HSPH1):c.1030G>T (p.Ala344Ser)
|
rs774955562
|
|
NM_006735.4(HOXA2):c.50C>A (p.Ser17Ter)
|
rs2128035269
|
|
NM_006767.4(LZTR1):c.689A>C (p.Asn230Thr)
|
rs752439876
|
|
NM_006772.3(SYNGAP1):c.3557C>T (p.Ser1186Leu)
|
rs1554122485
|
|
NM_006783.4(GJB6):c.(?_-885)_(-16_?)+61dup
|
|
|
NM_006846.4(SPINK5):c.2740-127_2740-126del
|
rs797045108
|
|
NM_006912.6(RIT1):c.604A>T (p.Ser202Cys)
|
rs876657981
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
NM_006941.4(SOX10):c.191A>T (p.Asp64Val)
|
rs372400283
|
|
NM_006941.4(SOX10):c.313A>C (p.Lys105Gln)
|
rs876658005
|
|
NM_007078.3(LDB3):c.*13G>T
|
rs397517207
|
|
NM_007078.3(LDB3):c.10A>C (p.Ser4Arg)
|
rs727505295
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1])
|
rs397517209
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3])
|
rs397517209
|
|
NM_007078.3(LDB3):c.1471G>T (p.Val491Leu)
|
rs397517215
|
|
NM_007078.3(LDB3):c.1475C>T (p.Thr492Ile)
|
rs397517216
|
|
NM_007078.3(LDB3):c.1586C>G (p.Pro529Arg)
|
rs397517217
|
|
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala)
|
rs727503128
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His)
|
rs727503131
|
|
NM_007078.3(LDB3):c.1907G>A (p.Cys636Tyr)
|
rs397517218
|
|
NM_007078.3(LDB3):c.200A>G (p.Asn67Ser)
|
rs727504500
|
|
NM_007078.3(LDB3):c.2078C>A (p.Thr693Asn)
|
rs397517219
|
|
NM_007078.3(LDB3):c.2155A>G (p.Lys719Glu)
|
rs397517220
|
|
NM_007078.3(LDB3):c.236C>G (p.Thr79Ser)
|
rs397517221
|
|
NM_007078.3(LDB3):c.529dup (p.Ala177fs)
|
rs730880345
|
|
NM_007078.3(LDB3):c.530C>A (p.Ala177Asp)
|
rs397517224
|
|
NM_007078.3(LDB3):c.789G>A (p.Trp263Ter)
|
rs876657847
|
|
NM_007078.3(LDB3):c.859+3G>A
|
rs376313045
|
|
NM_007078.3(LDB3):c.860-15C>T
|
rs727503126
|
|
NM_007078.3(LDB3):c.860-22_860-12del
|
rs727504602
|
|
NM_007078.3(LDB3):c.899C>A (p.Thr300Asn)
|
rs397517228
|
|
NM_007078.3(LDB3):c.93+1G>T
|
rs727505066
|
|
NM_007118.4(TRIO):c.3562A>G (p.Thr1188Ala)
|
rs1746074176
|
|
NM_007294.4(BRCA1):c.301+1G>A
|
rs587782173
|
|
NM_007294.4(BRCA1):c.594-1G>T
|
rs757781708
|
|
NM_012092.4(ICOS):c.189C>A (p.Cys63Ter)
|
rs537195517
|
|
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu)
|
rs727502978
|
|
NM_012144.4(DNAI1):c.645_647delinsCCT (p.Pro216Leu)
|
rs876657783
|
|
NM_012208.4(HARS2):c.-2C>T
|
rs574815775
|
|
NM_012208.4(HARS2):c.165TAT[1] (p.Ile57del)
|
rs876657829
|
|
NM_012208.4(HARS2):c.838C>G (p.Leu280Val)
|
rs1439213535
|
|
NM_012233.3(RAB3GAP1):c.2773C>T (p.Gln925Ter)
|
rs1573622710
|
|
NM_012330.4(KAT6B):c.5279C>A (p.Pro1760Gln)
|
rs1385883942
|
|
NM_012330.4(KAT6B):c.5962A>G (p.Thr1988Ala)
|
rs1846260900
|
|
NM_013296.5(GPSM2):c.831C>G (p.Asp277Glu)
|
rs876657828
|
|
NM_014000.3(VCL):c.1198G>T (p.Gly400Cys)
|
rs201361282
|
|
NM_014000.3(VCL):c.1390A>C (p.Lys464Gln)
|
rs200710859
|
|
NM_014000.3(VCL):c.1575A>C (p.Glu525Asp)
|
rs548487697
|
|
NM_014000.3(VCL):c.1639C>T (p.Arg547Ter)
|
rs397517234
|
|
NM_014000.3(VCL):c.1792G>A (p.Val598Ile)
|
rs397517235
|
|
NM_014000.3(VCL):c.1888G>A (p.Ala630Thr)
|
rs727503739
|
|
NM_014000.3(VCL):c.1973T>C (p.Val658Ala)
|
rs372691803
|
|
NM_014000.3(VCL):c.2672G>C (p.Gly891Ala)
|
rs727503740
|
|
NM_014000.3(VCL):c.2775_2780del (p.Gly926_Val927del)
|
rs757018106
|
|
NM_014000.3(VCL):c.2949+1del
|
rs2131937426
|
|
NM_014000.3(VCL):c.3115C>T (p.Gln1039Ter)
|
rs727503741
|
|
NM_014000.3(VCL):c.3163C>T (p.Arg1055Ter)
|
rs727505159
|
|
NM_014000.3(VCL):c.31A>G (p.Ser11Gly)
|
rs397517240
|
|
NM_014000.3(VCL):c.3236T>C (p.Ile1079Thr)
|
rs727503742
|
|
NM_014000.3(VCL):c.500-5C>G
|
rs397517243
|
|
NM_014000.3(VCL):c.565G>C (p.Val189Leu)
|
rs151045204
|
|
NM_014000.3(VCL):c.622+4C>G
|
rs201020802
|
|
NM_014000.3(VCL):c.649A>G (p.Asn217Asp)
|
rs727505216
|
|
NM_014270.5(SLC7A9):c.1399+4_1399+7del
|
rs747593886
|
|
NM_014391.3(ANKRD1):c.140C>T (p.Thr47Ile)
|
rs727502891
|
|
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs)
|
rs776659587
|
|
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)
|
rs74315433
|
|
NM_014739.3(BCLAF1):c.2397+1G>C
|
rs879165205
|
|
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter)
|
rs876657785
|
|
NM_015030.2(FRYL):c.2557_2558insAA (p.Thr853fs)
|
rs1578191374
|
|
NM_015141.4(GPD1L):c.352_353insC (p.Ile118fs)
|
rs1060499860
|
|
NM_015141.4(GPD1L):c.354_355insGAGTT (p.Thr119fs)
|
rs1060499861
|
|
NM_015141.4(GPD1L):c.745G>A (p.Val249Met)
|
rs148464224
|
|
NM_015158.5(KANK1):c.1038C>G (p.Tyr346Ter)
|
rs1060499870
|
|
NM_015340.4(LARS2):c.1753A>G (p.Lys585Glu)
|
rs1181180156
|
|
NM_015340.4(LARS2):c.416C>T (p.Ala139Val)
|
rs1553628118
|
|
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser)
|
rs545251395
|
|
NM_015404.4(WHRN):c.14T>C (p.Leu5Pro)
|
rs1554747807
|
|
NM_015404.4(WHRN):c.2364G>T (p.Arg788Ser)
|
rs1441372523
|
|
NM_015404.4(WHRN):c.2418+3G>A
|
rs876657772
|
|
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter)
|
rs727504817
|
|
NM_015404.4(WHRN):c.2621G>C (p.Gly874Ala)
|
rs756466784
|
|
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln)
|
rs727505255
|
|
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala)
|
rs572312301
|
|
NM_015404.4(WHRN):c.640C>G (p.Leu214Val)
|
rs1554735418
|
|
NM_015404.4(WHRN):c.676G>C (p.Gly226Arg)
|
rs727502955
|
|
NM_015404.4(WHRN):c.75CGG[2] (p.Gly29del)
|
rs757435431
|
|
NM_015404.4(WHRN):c.914A>G (p.Tyr305Cys)
|
rs1589199689
|
|
NM_015404.4(WHRN):c.943G>C (p.Ala315Pro)
|
rs876657774
|
|
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp)
|
rs143165834
|
|
NM_015488.5(PNKD):c.43dup (p.Ala15fs)
|
rs777779692
|
|
NM_015512.5(DNAH1):c.4085G>T (p.Arg1362Leu)
|
rs201355893
|
|
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs)
|
rs1454064691
|
|
NM_016111.4(TELO2):c.2291+1G>A
|
rs76038845
|
|
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile)
|
rs727504707
|
|
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg)
|
rs121908988
|
|
NM_016203.4(PRKAG2):c.1152A>T (p.Arg384Ser)
|
rs397517262
|
|
NM_016203.4(PRKAG2):c.1212C>G (p.Ile404Met)
|
rs876657962
|
|
NM_016203.4(PRKAG2):c.467-10T>G
|
rs727503378
|
|
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)
|
rs397517273
|
|
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)
|
rs397517275
|
|
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)
|
rs397517277
|
|
NM_016203.4(PRKAG2):c.722G>A (p.Gly241Asp)
|
rs397517280
|
|
NM_016203.4(PRKAG2):c.826A>G (p.Thr276Ala)
|
rs727505340
|
|
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)
|
rs397517282
|
|
NM_016239.4(MYO15A):c.10217-3C>T
|
rs727503321
|
|
NM_016239.4(MYO15A):c.10228G>C (p.Ala3410Pro)
|
rs755643067
|
|
NM_016239.4(MYO15A):c.1103_1105del (p.Tyr368del)
|
rs876657896
|
|
NM_016239.4(MYO15A):c.1444C>G (p.Arg482Gly)
|
rs867369805
|
|
NM_016239.4(MYO15A):c.3217G>A (p.Ala1073Thr)
|
rs1597758153
|
|
NM_016239.4(MYO15A):c.3295C>T (p.Pro1099Ser)
|
rs765396397
|
|
NM_016239.4(MYO15A):c.3299T>A (p.Leu1100Gln)
|
rs1555540034
|
|
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del)
|
rs876657898
|
|
NM_016239.4(MYO15A):c.3842G>C (p.Gly1281Ala)
|
rs1555541136
|
|
NM_016239.4(MYO15A):c.4091_4099del (p.Arg1364_Asp1366del)
|
rs1597777612
|
|
NM_016239.4(MYO15A):c.4109G>A (p.Arg1370His)
|
rs771676248
|
|
NM_016239.4(MYO15A):c.420G>T (p.Lys140Asn)
|
rs1555537961
|
|
NM_016239.4(MYO15A):c.4607G>T (p.Arg1536Leu)
|
rs201423655
|
|
NM_016239.4(MYO15A):c.4656-11del
|
rs767773802
|
|
NM_016239.4(MYO15A):c.4945C>T (p.Leu1649Phe)
|
rs1257912388
|
|
NM_016239.4(MYO15A):c.5804G>T (p.Arg1935Leu)
|
rs876657900
|
|
NM_016239.4(MYO15A):c.5925G>T (p.Trp1975Cys)
|
rs375290498
|
|
NM_016239.4(MYO15A):c.6273+5G>T
|
rs1597797058
|
|
NM_016239.4(MYO15A):c.6378G>C (p.Glu2126Asp)
|
rs1597798474
|
|
NM_016239.4(MYO15A):c.6490T>G (p.Phe2164Val)
|
rs727505225
|
|
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu)
|
rs876657903
|
|
NM_016239.4(MYO15A):c.6969C>G (p.Asn2323Lys)
|
rs1555545724
|
|
NM_016239.4(MYO15A):c.7533_7553dup (p.Val2512_Pro2518dup)
|
rs1555546066
|
|
NM_016239.4(MYO15A):c.8051A>G (p.Tyr2684Cys)
|
rs1181143893
|
|
NM_016239.4(MYO15A):c.8215G>C (p.Ala2739Pro)
|
rs748969088
|
|
NM_016239.4(MYO15A):c.8329T>C (p.Phe2777Leu)
|
rs876657905
|
|
NM_016239.4(MYO15A):c.8602-8_8602-5del
|
rs876657907
|
|
NM_016239.4(MYO15A):c.9161C>T (p.Pro3054Leu)
|
rs1431217758
|
|
NM_016239.4(MYO15A):c.9517+3G>T
|
rs727503319
|
|
NM_016239.4(MYO15A):c.9619C>T (p.Arg3207Cys)
|
rs1387363252
|
|
NM_016239.4(MYO15A):c.9686G>A (p.Cys3229Tyr)
|
rs780798446
|
|
NM_016239.4(MYO15A):c.9997C>G (p.Arg3333Gly)
|
rs765670344
|
|
NM_016599.4(MYOZ2):c.(?_1)_(76_?)dup (p.(?))
|
|
|
NM_016599.5(MYOZ2):c.-3A>G
|
rs372377840
|
|
NM_016599.5(MYOZ2):c.191G>A (p.Arg64Lys)
|
rs1553958177
|
|
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)
|
rs76757102
|
|
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)
|
rs200077093
|
|
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)
|
rs372215131
|
|
NM_016599.5(MYOZ2):c.77-14A>G
|
rs397517291
|
|
NM_017433.5(MYO3A):c.1359+1G>T
|
rs756836048
|
|
NM_017433.5(MYO3A):c.1643C>T (p.Pro548Leu)
|
rs143918373
|
|
NM_017433.5(MYO3A):c.168+3_168+4del
|
rs2130551945
|
|
NM_017433.5(MYO3A):c.2039A>C (p.Lys680Thr)
|
rs1589000062
|
|
NM_017433.5(MYO3A):c.2405A>G (p.Gln802Arg)
|
rs727503324
|
|
NM_017433.5(MYO3A):c.2890G>A (p.Asp964Asn)
|
rs1554836048
|
|
NM_017433.5(MYO3A):c.3040A>G (p.Met1014Val)
|
rs1324018685
|
|
NM_017433.5(MYO3A):c.3253A>G (p.Ser1085Gly)
|
rs1191332923
|
|
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly)
|
rs727504688
|
|
NM_017433.5(MYO3A):c.585+3C>T
|
rs200381660
|
|
NM_017433.5(MYO3A):c.731+4_731+5insTA
|
rs727505119
|
|
NM_017617.5(NOTCH1):c.4319T>C (p.Ile1440Thr)
|
rs778742968
|
|
NM_017780.4(CHD7):c.760C>G (p.Gln254Glu)
|
rs1554581354
|
|
NM_017780.4(CHD7):c.7975G>A (p.Gly2659Ser)
|
rs1806047983
|
|
NM_017780.4(CHD7):c.8362G>C (p.Asp2788His)
|
rs373204105
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_017841.4(SDHAF2):c.363G>A (p.Trp121Ter)
|
rs1060499901
|
|
NM_017841.4(SDHAF2):c.446_447del (p.Lys149fs)
|
rs772219112
|
|
NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys)
|
rs200858130
|
|
NM_018139.3(DNAAF2):c.1586A>C (p.Gln529Pro)
|
rs777210474
|
|
NM_018406.7(MUC4):c.5879C>G (p.Ser1960Ter)
|
rs558165743
|
|
NM_018451.5(CENPJ):c.3217-2A>G
|
rs1555295400
|
|
NM_020297.4(ABCC9):c.-14_-8del
|
rs746420722
|
|
NM_020297.4(ABCC9):c.1142T>A (p.Ile381Asn)
|
rs397517181
|
|
NM_020297.4(ABCC9):c.1358G>C (p.Gly453Ala)
|
rs397517183
|
|
NM_020297.4(ABCC9):c.2000C>A (p.Thr667Lys)
|
rs397517186
|
|
NM_020297.4(ABCC9):c.2644-11G>C
|
rs61926078
|
|
NM_020297.4(ABCC9):c.2746C>T (p.Arg916Trp)
|
rs533032970
|
|
NM_020297.4(ABCC9):c.3315+4A>G
|
rs727504847
|
|
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs)
|
rs730880370
|
|
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT
|
rs869025349
|
|
NM_020297.4(ABCC9):c.573+6T>C
|
rs397517192
|
|
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu)
|
rs876657833
|
|
NM_020433.5(JPH2):c.376G>A (p.Gly126Arg)
|
rs876657834
|
|
NM_020433.5(JPH2):c.497T>G (p.Leu166Arg)
|
rs876657835
|
|
NM_020433.5(JPH2):c.511_516dup (p.Ser171_Asn172dup)
|
rs864309612
|
|
NM_020877.5(DNAH2):c.4453G>C (p.Asp1485His)
|
rs1060499854
|
|
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro)
|
rs536486113
|
|
NM_020975.6(RET):c.3237_3238del (p.Arg1079fs)
|
rs1060499895
|
|
NM_020975.6(RET):c.947G>T (p.Ser316Ile)
|
rs1060499894
|
|
NM_021116.4(ADCY1):c.2817+5G>A
|
rs1584344150
|
|
NM_021116.4(ADCY1):c.3262C>A (p.Pro1088Thr)
|
rs548312101
|
|
NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup)
|
rs876657812
|
|
NM_021167.5(GATAD1):c.249+2T>C
|
rs876657813
|
|
NM_021167.5(GATAD1):c.376-13dup
|
rs876657814
|
|
NM_021167.5(GATAD1):c.537C>G (p.Cys179Trp)
|
rs727503061
|
|
NM_022114.4(PRDM16):c.1081G>A (p.Val361Met)
|
rs876657957
|
|
NM_022114.4(PRDM16):c.2089G>T (p.Ala697Ser)
|
rs779334537
|
|
NM_022114.4(PRDM16):c.2521_2526dup (p.Gln841_Val842dup)
|
rs776728016
|
|
NM_022114.4(PRDM16):c.2809_2810dup (p.Thr938fs)
|
rs876657961
|
|
NM_022114.4(PRDM16):c.3821A>G (p.Asn1274Ser)
|
rs1553180695
|
|
NM_022124.5(CDH23):c.[7762G>C;7764G>T]
|
|
|
NM_022124.6(CDH23):c.1134+26G>A
|
rs2132520415
|
|
NM_022124.6(CDH23):c.1373C>T (p.Pro458Leu)
|
rs1554850744
|
|
NM_022124.6(CDH23):c.137C>A (p.Thr46Lys)
|
rs727504613
|
|
NM_022124.6(CDH23):c.1542CAT[1] (p.Ile515del)
|
rs727502922
|
|
NM_022124.6(CDH23):c.1853A>G (p.Tyr618Cys)
|
rs778493031
|
|
NM_022124.6(CDH23):c.2096A>T (p.Asp699Val)
|
rs1554856028
|
|
NM_022124.6(CDH23):c.2289+6T>G
|
rs727502924
|
|
NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys)
|
rs199709482
|
|
NM_022124.6(CDH23):c.2954-5del
|
rs766850828
|
|
NM_022124.6(CDH23):c.3028C>A (p.Arg1010Ser)
|
rs727505173
|
|
NM_022124.6(CDH23):c.3067G>A (p.Asp1023Asn)
|
rs1064796283
|
|
NM_022124.6(CDH23):c.3106+4C>T
|
rs1900497
|
|
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)
|
rs377100683
|
|
NM_022124.6(CDH23):c.3299C>T (p.Pro1100Leu)
|
rs876657753
|
|
NM_022124.6(CDH23):c.3326C>T (p.Ala1109Val)
|
rs727504705
|
|
NM_022124.6(CDH23):c.3566G>T (p.Arg1189Leu)
|
rs876657755
|
|
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg)
|
rs727504513
|
|
NM_022124.6(CDH23):c.3712T>G (p.Ser1238Ala)
|
rs764805425
|
|
NM_022124.6(CDH23):c.4104+22G>T
|
rs727502926
|
|
NM_022124.6(CDH23):c.4396G>T (p.Ala1466Ser)
|
rs1554864704
|
|
NM_022124.6(CDH23):c.4555G>C (p.Asp1519His)
|
rs397517330
|
|
NM_022124.6(CDH23):c.4879G>A (p.Glu1627Lys)
|
rs755926639
|
|
NM_022124.6(CDH23):c.5219A>T (p.Asn1740Ile)
|
rs397517336
|
|
NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe)
|
rs1841063934
|
|
NM_022124.6(CDH23):c.5674G>A (p.Ala1892Thr)
|
rs727505054
|
|
NM_022124.6(CDH23):c.5789A>G (p.Asp1930Gly)
|
rs763582705
|
|
NM_022124.6(CDH23):c.5821G>A (p.Asp1941Asn)
|
rs1589421960
|
|
NM_022124.6(CDH23):c.5869_5874del (p.Pro1957_Leu1958del)
|
rs397517345
|
|
NM_022124.6(CDH23):c.6011G>A (p.Gly2004Asp)
|
rs745568647
|
|
NM_022124.6(CDH23):c.6253+4A>G
|
rs1554874375
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
NM_022124.6(CDH23):c.6713G>C (p.Gly2238Ala)
|
rs727502928
|
|
NM_022124.6(CDH23):c.6718G>A (p.Val2240Ile)
|
rs727504694
|
|
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)
|
rs876657756
|
|
NM_022124.6(CDH23):c.7442C>G (p.Pro2481Arg)
|
rs397517351
|
|
NM_022124.6(CDH23):c.7501G>A (p.Asp2501Asn)
|
rs397517352
|
|
NM_022124.6(CDH23):c.754-3dup
|
rs730880346
|
|
NM_022124.6(CDH23):c.7651C>G (p.Pro2551Ala)
|
rs548188123
|
|
NM_022124.6(CDH23):c.7661-14G>C
|
rs767603792
|
|
NM_022124.6(CDH23):c.781A>C (p.Ile261Leu)
|
rs876657757
|
|
NM_022124.6(CDH23):c.8065C>T (p.Leu2689Phe)
|
rs759319741
|
|
NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys)
|
rs397517357
|
|
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del)
|
rs876657758
|
|
NM_022124.6(CDH23):c.8650_8667del (p.Ser2884_His2889del)
|
rs397517359
|
|
NM_022124.6(CDH23):c.8710G>A (p.Val2904Ile)
|
rs746121407
|
|
NM_022124.6(CDH23):c.8792A>C (p.Asp2931Ala)
|
rs727502934
|
|
NM_022124.6(CDH23):c.9086A>C (p.Gln3029Pro)
|
rs397517365
|
|
NM_022124.6(CDH23):c.9278+2dup
|
rs727502935
|
|
NM_022124.6(CDH23):c.9283A>G (p.Lys3095Glu)
|
rs876657760
|
|
NM_022124.6(CDH23):c.9746A>G (p.Gln3249Arg)
|
rs876657761
|
|
NM_022489.4(INF2):c.2019_2022del (p.Lys673fs)
|
rs1060499868
|
|
NM_024009.3(GJB3):c.479G>A (p.Arg160His)
|
rs200055020
|
|
NM_024334.3(TMEM43):c.163-1G>C
|
rs1060499911
|
|
NM_024334.3(TMEM43):c.392+4A>G
|
rs397517382
|
|
NM_024334.3(TMEM43):c.486_489del (p.Asp162fs)
|
rs1060499910
|
|
NM_024334.3(TMEM43):c.583+3A>G
|
rs876658021
|
|
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln)
|
rs769969149
|
|
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val)
|
rs727504764
|
|
NM_024422.6(DSC2):c.1001G>T (p.Gly334Val)
|
rs397517388
|
|
NM_024422.6(DSC2):c.1028_1030del (p.Ile343del)
|
rs1555639121
|
|
NM_024422.6(DSC2):c.1077+2T>G
|
rs397517389
|
|
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg)
|
rs199616533
|
|
NM_024422.6(DSC2):c.2125+1del
|
rs794728072
|
|
NM_024422.6(DSC2):c.2174C>T (p.Pro725Leu)
|
rs876657788
|
|
NM_024422.6(DSC2):c.2263G>A (p.Gly755Ser)
|
rs727502979
|
|
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)
|
rs61731921
|
|
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser)
|
rs565136635
|
|
NM_024422.6(DSC2):c.2398del (p.Ala800fs)
|
rs397517399
|
|
NM_024422.6(DSC2):c.474+5C>A
|
rs397517400
|
|
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro)
|
rs876657789
|
|
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser)
|
rs876657787
|
|
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys)
|
rs142331975
|
|
NM_024422.6(DSC2):c.721C>T (p.Pro241Ser)
|
rs727505169
|
|
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del)
|
rs776784065
|
|
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro)
|
rs966660258
|
|
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys)
|
rs397517404
|
|
NM_024422.6(DSC2):c.844T>C (p.Tyr282His)
|
rs397517405
|
|
NM_024747.6(HPS6):c.1261C>G (p.Leu421Val)
|
rs1590263556
|
|
NM_024818.6(UBA5):c.813G>C (p.Lys271Asn)
|
rs1576652827
|
|
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met)
|
rs370196002
|
|
NM_024915.4(GRHL2):c.1764-12C>G
|
rs371424751
|
|
NM_024915.4(GRHL2):c.319T>A (p.Leu107Met)
|
rs1048525846
|
|
NM_024915.4(GRHL2):c.449T>G (p.Ile150Ser)
|
rs727504883
|
|
NM_024915.4(GRHL2):c.974A>C (p.His325Pro)
|
rs1586112160
|
|
NM_030632.3(ASXL3):c.3547C>G (p.Gln1183Glu)
|
rs1599571554
|
|
NM_030662.4(MAP2K2):c.169T>A (p.Phe57Ile)
|
rs121434498
|
|
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn)
|
rs886041310
|
|
NM_030662.4(MAP2K2):c.287_288delinsGT (p.Leu96Arg)
|
rs397517412
|
|
NM_030662.4(MAP2K2):c.320T>A (p.Ile107Asn)
|
rs1555698037
|
|
NM_030662.4(MAP2K2):c.32C>G (p.Ala11Gly)
|
rs1555699410
|
|
NM_030662.4(MAP2K2):c.383C>G (p.Pro128Arg)
|
rs267607230
|
|
NM_030662.4(MAP2K2):c.578G>A (p.Arg193Gln)
|
rs530342723
|
|
NM_030662.4(MAP2K2):c.706-1_706delinsTT
|
rs1599287155
|
|
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg)
|
rs368064728
|
|
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)
|
rs763469132
|
|
NM_030782.5(CLPTM1L):c.220G>C (p.Val74Leu)
|
rs200649005
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_031427.4(DNAL1):c.-14T>G
|
rs876657784
|
|
NM_031475.3(ESPN):c.382G>T (p.Gly128Cys)
|
rs145666801
|
|
NM_031475.3(ESPN):c.871C>G (p.Leu291Val)
|
rs1348183531
|
|
NM_032119.3(ADGRV1):c.(?_17020)-19_(17856_?)+58dup
|
|
|
NM_032119.4(ADGRV1):c.-11G>A
|
rs727504484
|
|
NM_032119.4(ADGRV1):c.11178T>A (p.Asp3726Glu)
|
rs1554104329
|
|
NM_032119.4(ADGRV1):c.11426T>A (p.Leu3809His)
|
rs368086521
|
|
NM_032119.4(ADGRV1):c.12283G>A (p.Glu4095Lys)
|
rs876657818
|
|
NM_032119.4(ADGRV1):c.12332T>C (p.Val4111Ala)
|
rs1554111603
|
|
NM_032119.4(ADGRV1):c.1237A>C (p.Arg413=)
|
rs1554064773
|
|
NM_032119.4(ADGRV1):c.12506A>G (p.Tyr4169Cys)
|
rs577389548
|
|
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu)
|
rs571603222
|
|
NM_032119.4(ADGRV1):c.12849+5_12849+6insAA
|
rs1554113222
|
|
NM_032119.4(ADGRV1):c.13072C>T (p.Leu4358Phe)
|
rs1554113480
|
|
NM_032119.4(ADGRV1):c.13201G>A (p.Glu4401Lys)
|
rs876657819
|
|
NM_032119.4(ADGRV1):c.13712A>G (p.Asp4571Gly)
|
rs876657820
|
|
NM_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu)
|
rs753803615
|
|
NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile)
|
rs373391623
|
|
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe)
|
rs373391623
|
|
NM_032119.4(ADGRV1):c.15893C>T (p.Thr5298Ile)
|
rs369030097
|
|
NM_032119.4(ADGRV1):c.16010G>A (p.Gly5337Glu)
|
rs1475775451
|
|
NM_032119.4(ADGRV1):c.16931T>C (p.Leu5644Pro)
|
rs879250689
|
|
NM_032119.4(ADGRV1):c.16989A>T (p.Gln5663His)
|
rs1765372607
|
|
NM_032119.4(ADGRV1):c.17092C>G (p.Leu5698Val)
|
rs727503084
|
|
NM_032119.4(ADGRV1):c.1711A>G (p.Lys571Glu)
|
rs397517425
|
|
NM_032119.4(ADGRV1):c.17205-10T>G
|
rs876657821
|
|
NM_032119.4(ADGRV1):c.17777C>T (p.Ser5926Phe)
|
rs1554139681
|
|
NM_032119.4(ADGRV1):c.17856+4G>A
|
rs727505212
|
|
NM_032119.4(ADGRV1):c.18141T>G (p.Ile6047Met)
|
rs888089676
|
|
NM_032119.4(ADGRV1):c.18211T>A (p.Cys6071Ser)
|
rs1554214818
|
|
NM_032119.4(ADGRV1):c.3370G>A (p.Glu1124Lys)
|
rs876657825
|
|
NM_032119.4(ADGRV1):c.3841G>A (p.Val1281Ile)
|
rs1294773650
|
|
NM_032119.4(ADGRV1):c.3978T>A (p.Asp1326Glu)
|
rs546224817
|
|
NM_032119.4(ADGRV1):c.4094C>A (p.Ala1365Asp)
|
rs397517430
|
|
NM_032119.4(ADGRV1):c.425A>G (p.Asn142Ser)
|
rs727504665
|
|
NM_032119.4(ADGRV1):c.5102A>G (p.His1701Arg)
|
rs876657826
|
|
NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser)
|
rs535038304
|
|
NM_032119.4(ADGRV1):c.6161G>A (p.Ser2054Asn)
|
rs558843030
|
|
NM_032119.4(ADGRV1):c.6290G>T (p.Arg2097Leu)
|
rs572910896
|
|
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp)
|
rs377475657
|
|
NM_032119.4(ADGRV1):c.7452A>T (p.Lys2484Asn)
|
rs397517437
|
|
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu)
|
rs191036195
|
|
NM_032119.4(ADGRV1):c.7954A>G (p.Lys2652Glu)
|
rs1747265965
|
|
NM_032119.4(ADGRV1):c.8155+4G>T
|
rs397517438
|
|
NM_032119.4(ADGRV1):c.8386G>C (p.Gly2796Arg)
|
rs1554088629
|
|
NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn)
|
rs201511311
|
|
NM_032119.4(ADGRV1):c.9590T>C (p.Leu3197Ser)
|
rs727504685
|
|
NM_032119.4(ADGRV1):c.9746T>C (p.Met3249Thr)
|
rs1750855092
|
|
NM_032229.3(SLITRK6):c.1492C>T (p.Pro498Ser)
|
rs755925837
|
|
NM_032229.3(SLITRK6):c.2414A>G (p.Tyr805Cys)
|
rs1874622846
|
|
NM_032380.5(GFM2):c.13_14del (p.Leu5fs)
|
rs1412568004
|
|
NM_032578.4(MYPN):c.1132A>C (p.Ile378Leu)
|
rs1554842686
|
|
NM_032578.4(MYPN):c.1741G>C (p.Val581Leu)
|
rs1464184643
|
|
NM_032578.4(MYPN):c.2443A>G (p.Ile815Val)
|
rs876657922
|
|
NM_032578.4(MYPN):c.2756G>A (p.Arg919His)
|
rs193022869
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp)
|
rs876657919
|
|
NM_032578.4(MYPN):c.637A>G (p.Ile213Val)
|
rs199476402
|
|
NM_032578.4(MYPN):c.785A>G (p.Glu262Gly)
|
rs876657924
|
|
NM_032578.4(MYPN):c.893C>T (p.Pro298Leu)
|
rs2042258631
|
|
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe)
|
rs786205457
|
|
NM_032830.3(UTP4):c.1372C>T (p.Gln458Ter)
|
rs1060499849
|
|
NM_033026.6(PCLO):c.7272C>T (p.Pro2424=)
|
rs1060499888
|
|
NM_033056.4(PCDH15):c.4592A>G (p.Glu1531Gly)
|
rs397517460
|
|
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs)
|
rs781231890
|
|
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
|
rs730880357
|
|
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del)
|
rs397517463
|
|
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser)
|
rs751914445
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1])
|
rs779691085
|
|
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr)
|
rs727505235
|
|
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup)
|
rs750168790
|
|
NM_033118.4(MYLK2):c.1016A>G (p.His339Arg)
|
rs397517471
|
|
NM_033118.4(MYLK2):c.1669C>G (p.Gln557Glu)
|
rs763971356
|
|
NM_033118.4(MYLK2):c.16G>A (p.Gly6Arg)
|
rs727503302
|
|
NM_033118.4(MYLK2):c.1711-4C>T
|
rs372190501
|
|
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys)
|
rs766199082
|
|
NM_033118.4(MYLK2):c.277C>A (p.Pro93Thr)
|
rs397517473
|
|
NM_033118.4(MYLK2):c.344A>C (p.Gln115Pro)
|
rs727504681
|
|
NM_033118.4(MYLK2):c.802C>T (p.Pro268Ser)
|
rs397517475
|
|
NM_033360.4(KRAS):c.261del (p.Lys88fs)
|
rs397517038
|
|
NM_033380.3(COL4A5):c.1559C>T (p.Ala520Val)
|
rs2066528784
|
|
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val)
|
rs760570519
|
|
NM_033409.4(SLC52A3):c.94A>T (p.Met32Leu)
|
rs751913684
|
|
NM_053025.4(MYLK):c.2938dup (p.Asp980fs)
|
rs1553803719
|
|
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met)
|
rs368390254
|
|
NM_057176.3(BSND):c.10G>A (p.Glu4Lys)
|
rs121908145
|
|
NM_057176.3(BSND):c.197A>G (p.Asp66Gly)
|
rs1570272506
|
|
NM_057176.3(BSND):c.393G>T (p.Leu131Phe)
|
rs201387711
|
|
NM_057176.3(BSND):c.409G>C (p.Gly137Arg)
|
rs749600956
|
|
NM_057176.3(BSND):c.821A>C (p.Lys274Thr)
|
rs547338387
|
|
NM_057176.3(BSND):c.859G>T (p.Glu287Ter)
|
rs376784896
|
|
NM_080680.3(COL11A2):c.1119+1G>C
|
rs367706373
|
|
NM_080680.3(COL11A2):c.1427C>T (p.Ala476Val)
|
rs373983482
|
|
NM_080680.3(COL11A2):c.1557+5C>T
|
rs771087374
|
|
NM_080680.3(COL11A2):c.1678T>G (p.Phe560Val)
|
rs876657764
|
|
NM_080680.3(COL11A2):c.1817C>G (p.Ser606Trp)
|
rs147328015
|
|
NM_080680.3(COL11A2):c.1872+5G>A
|
rs727504891
|
|
NM_080680.3(COL11A2):c.2065C>T (p.Pro689Ser)
|
rs766440021
|
|
NM_080680.3(COL11A2):c.2516A>T (p.Glu839Val)
|
rs1770531178
|
|
NM_080680.3(COL11A2):c.2758C>A (p.Pro920Thr)
|
rs727502940
|
|
NM_080680.3(COL11A2):c.2983A>G (p.Thr995Ala)
|
rs1554217436
|
|
NM_080680.3(COL11A2):c.3031C>G (p.Pro1011Ala)
|
rs997533180
|
|
NM_080680.3(COL11A2):c.3313-3C>T
|
rs755108811
|
|
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser)
|
rs372806452
|
|
NM_080680.3(COL11A2):c.3556G>A (p.Gly1186Ser)
|
rs876657765
|
|
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser)
|
rs374515005
|
|
NM_080680.3(COL11A2):c.4610C>T (p.Pro1537Leu)
|
rs1554212071
|
|
NM_080680.3(COL11A2):c.4786C>T (p.Arg1596Trp)
|
rs778962979
|
|
NM_080680.3(COL11A2):c.5150A>T (p.Asp1717Val)
|
rs1554210895
|
|
NM_080680.3(COL11A2):c.808_813delinsATTGGGCTCG (p.Ser270fs)
|
rs1554224412
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser)
|
rs747242422
|
|
NM_133261.3(GIPC3):c.411+6C>T
|
rs764713230
|
|
NM_133261.3(GIPC3):c.596T>C (p.Met199Thr)
|
rs1241786174
|
|
NM_133261.3(GIPC3):c.939G>C (p.Ter313Tyr)
|
rs1172324481
|
|
NM_133378.4(TTN):c.19367-15_19367-11dup
|
rs876658044
|
|
NM_133378.4(TTN):c.[45418A>G;45419A>T]
|
|
|
NM_133379.5(TTN):c.10453G>C (p.Ala3485Pro)
|
rs727503675
|
|
NM_133379.5(TTN):c.10559C>T (p.Pro3520Leu)
|
rs189445085
|
|
NM_133379.5(TTN):c.11225del (p.Leu3742fs)
|
rs727503670
|
|
NM_133379.5(TTN):c.11638A>G (p.Ser3880Gly)
|
rs542259495
|
|
NM_133379.5(TTN):c.12502G>A (p.Ala4168Thr)
|
rs1367949983
|
|
NM_133379.5(TTN):c.12654T>G (p.Ile4218Met)
|
rs727503668
|
|
NM_133379.5(TTN):c.12887C>T (p.Pro4296Leu)
|
rs727504927
|
|
NM_133379.5(TTN):c.12946G>A (p.Glu4316Lys)
|
rs727503667
|
|
NM_133379.5(TTN):c.12997dup (p.Ile4333fs)
|
rs397517806
|
|
NM_133379.5(TTN):c.13075G>A (p.Ala4359Thr)
|
rs876658103
|
|
NM_133379.5(TTN):c.13252T>A (p.Tyr4418Asn)
|
rs876658104
|
|
NM_133379.5(TTN):c.13295A>G (p.Asn4432Ser)
|
rs397517808
|
|
NM_133379.5(TTN):c.13814T>C (p.Ile4605Thr)
|
rs397517810
|
|
NM_133379.5(TTN):c.14026A>G (p.Ile4676Val)
|
rs397517811
|
|
NM_133379.5(TTN):c.14258G>T (p.Cys4753Phe)
|
rs397517812
|
|
NM_133379.5(TTN):c.14615C>G (p.Ser4872Cys)
|
rs876658105
|
|
NM_133379.5(TTN):c.15002A>T (p.Lys5001Met)
|
rs727504519
|
|
NM_133379.5(TTN):c.15280_15312del (p.5058TLERYSTPPGE[4])
|
rs397517814
|
|
NM_133379.5(TTN):c.15520A>G (p.Ile5174Val)
|
rs727504853
|
|
NM_133379.5(TTN):c.16174C>A (p.Pro5392Thr)
|
rs397517818
|
|
NM_133379.5(TTN):c.16264C>G (p.Pro5422Ala)
|
rs397517820
|
|
NM_133379.5(TTN):c.16384G>A (p.Ala5462Thr)
|
rs876658106
|
|
NM_133379.5(TTN):c.16387_16390del (p.Ile5463fs)
|
rs397517822
|
|
NM_138477.4(CDAN1):c.1791_1792delinsTCTTGCCCTGGGCTTGAAGA (p.Glu597_Leu598delinsAspLeuAlaLeuGlyLeuLysIle)
|
rs1555415486
|
|
NM_138691.3(TMC1):c.1022A>C (p.Asn341Thr)
|
rs727504568
|
|
NM_138691.3(TMC1):c.1224+5G>A
|
rs397517835
|
|
NM_138691.3(TMC1):c.1265C>A (p.Thr422Lys)
|
rs868082421
|
|
NM_138691.3(TMC1):c.1369T>C (p.Phe457Leu)
|
rs397517836
|
|
NM_138691.3(TMC1):c.1532C>A (p.Pro511His)
|
rs727503483
|
|
NM_138691.3(TMC1):c.1796G>A (p.Gly599Asp)
|
rs727503486
|
|
NM_138691.3(TMC1):c.1798A>G (p.Ile600Val)
|
rs202144745
|
|
NM_138691.3(TMC1):c.1874G>C (p.Arg625Thr)
|
rs762417969
|
|
NM_138691.3(TMC1):c.1902C>G (p.Asn634Lys)
|
rs767285617
|
|
NM_138691.3(TMC1):c.1988A>G (p.Asp663Gly)
|
rs397517837
|
|
NM_138691.3(TMC1):c.1992T>G (p.Cys664Trp)
|
rs727503487
|
|
NM_138691.3(TMC1):c.403G>A (p.Gly135Arg)
|
rs397517841
|
|
NM_138691.3(TMC1):c.532G>A (p.Glu178Lys)
|
rs1588060117
|
|
NM_138691.3(TMC1):c.557C>G (p.Ala186Gly)
|
rs727504470
|
|
NM_138691.3(TMC1):c.791G>C (p.Arg264Pro)
|
rs147147941
|
|
NM_138691.3(TMC1):c.7C>A (p.Pro3Thr)
|
rs569626109
|
|
NM_138691.3(TMC1):c.841G>T (p.Gly281Trp)
|
rs397517842
|
|
NM_139284.3(LGI4):c.794-2A>G
|
rs1600470209
|
|
NM_144573.3(NEXN):c.2026_*1del
|
rs794729094
|
|
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)
|
rs200067011
|
|
NM_144573.4(NEXN):c.1181_1182del (p.Glu394fs)
|
rs727504874
|
|
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
|
rs397517846
|
|
NM_144573.4(NEXN):c.1430T>G (p.Ile477Ser)
|
rs727504658
|
|
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly)
|
rs397517847
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144573.4(NEXN):c.1660-11_1660-7del
|
rs727503344
|
|
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)
|
rs397517848
|
|
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup)
|
rs397517848
|
|
NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del)
|
rs397517851
|
|
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del)
|
rs876657928
|
|
NM_144573.4(NEXN):c.1937C>A (p.Pro646Gln)
|
rs397517852
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
NM_144573.4(NEXN):c.2015A>G (p.Glu672Gly)
|
rs876657930
|
|
NM_144573.4(NEXN):c.220A>C (p.Ile74Leu)
|
rs727503342
|
|
NM_144573.4(NEXN):c.249G>C (p.Glu83Asp)
|
rs372532824
|
|
NM_144573.4(NEXN):c.677del (p.Ser226fs)
|
rs397517859
|
|
NM_144573.4(NEXN):c.864G>T (p.Met288Ile)
|
rs371666396
|
|
NM_144573.4(NEXN):c.86G>T (p.Gly29Val)
|
rs876657931
|
|
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
|
rs727505124
|
|
NM_144672.4(OTOA):c.1024G>C (p.Asp342His)
|
rs1597824772
|
|
NM_144672.4(OTOA):c.1109A>G (p.Lys370Arg)
|
rs727505354
|
|
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)
|
rs727504599
|
|
NM_144672.4(OTOA):c.1186G>A (p.Gly396Ser)
|
rs1898305690
|
|
NM_144672.4(OTOA):c.1322T>C (p.Val441Ala)
|
rs1555499893
|
|
NM_144672.4(OTOA):c.1880C>G (p.Pro627Arg)
|
rs727503351
|
|
NM_144672.4(OTOA):c.2222G>C (p.Trp741Ser)
|
rs727505120
|
|
NM_144672.4(OTOA):c.851T>C (p.Phe284Ser)
|
rs727503348
|
|
NM_144672.4(OTOA):c.96G>T (p.Leu32Phe)
|
rs372826296
|
|
NM_144991.3(TSPEAR):c.131C>T (p.Ala44Val)
|
rs145231394
|
|
NM_144991.3(TSPEAR):c.1372T>G (p.Trp458Gly)
|
rs782168687
|
|
NM_144991.3(TSPEAR):c.1493G>A (p.Gly498Asp)
|
rs782040120
|
|
NM_144991.3(TSPEAR):c.1864G>A (p.Gly622Ser)
|
rs876658039
|
|
NM_144991.3(TSPEAR):c.1925C>G (p.Ala642Gly)
|
rs782299333
|
|
NM_145861.4(EDARADD):c.299_300insAAC (p.Cys100Ter)
|
rs797045087
|
|
NM_147129.5(ALS2CL):c.2583del (p.Thr860_Tyr861insTer)
|
rs761960683
|
|
NM_147196.2(TMIE):c.(?_-216)_*(1276_?)dup
|
|
|
NM_147196.3(TMIE):c.247C>T (p.Pro83Ser)
|
rs876658019
|
|
NM_152393.3(KLHL40):c.[1849T>C;1850G>A]
|
|
|
NM_152515.5(CKAP2L):c.1534_1537del (p.Lys512fs)
|
rs989196851
|
|
NM_152594.3(SPRED1):c.-12G>T
|
rs371200183
|
|
NM_152594.3(SPRED1):c.1108C>T (p.Leu370Phe)
|
rs397517870
|
|
NM_152732.5(RSPH9):c.824_825delinsAT (p.Met275Asn)
|
rs727503395
|
|
NM_153676.4(USH1C):c.-15G>C
|
rs1554965975
|
|
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala)
|
rs876658109
|
|
NM_153676.4(USH1C):c.127G>A (p.Val43Met)
|
rs145500807
|
|
NM_153676.4(USH1C):c.1574T>C (p.Leu525Pro)
|
rs727504790
|
|
NM_153676.4(USH1C):c.1576G>A (p.Ala526Thr)
|
rs727503711
|
|
NM_153676.4(USH1C):c.1699C>T (p.Pro567Ser)
|
rs549628785
|
|
NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr)
|
rs727503710
|
|
NM_153676.4(USH1C):c.1838C>T (p.Thr613Ile)
|
rs146191588
|
|
NM_153676.4(USH1C):c.1944G>T (p.Glu648Asp)
|
rs1213612823
|
|
NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser)
|
rs397517873
|
|
NM_153676.4(USH1C):c.2302C>A (p.Leu768Met)
|
rs876658110
|
|
NM_153676.4(USH1C):c.2380+1G>C
|
rs1060499916
|
|
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly)
|
rs774005703
|
|
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)
|
rs397517876
|
|
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys)
|
rs769021971
|
|
NM_153676.4(USH1C):c.2579C>T (p.Pro860Leu)
|
rs876658112
|
|
NM_153682.3(PIGP):c.-22-15_-18dup
|
rs769435671
|
|
NM_153700.2(STRC):c.(?_3499)-60_(3557_?)+31del
|
|
|
NM_153700.2(STRC):c.(?_3519)_(3557_?)+28dup
|
|
|
NM_153700.2(STRC):c.(?_4443)_(4845_?)-68dup
|
|
|
NM_153700.2(STRC):c.(?_4845)-59_(4993_?)+61dup
|
|
|
NM_153700.2(STRC):c.1613G>T (p.Cys538Phe)
|
rs876658006
|
|
NM_153700.2(STRC):c.2303_2313+1del
|
rs1021413948
|
|
NM_153700.2(STRC):c.2614C>T (p.Pro872Ser)
|
rs1187842173
|
|
NM_153700.2(STRC):c.2914C>T (p.Arg972Trp)
|
rs876658008
|
|
NM_153700.2(STRC):c.3401T>G (p.Leu1134Arg)
|
rs1555447461
|
|
NM_153700.2(STRC):c.4171C>T (p.Arg1391Cys)
|
rs376104748
|
|
NM_153700.2(STRC):c.4298G>A (p.Cys1433Tyr)
|
rs202189597
|
|
NM_153700.2(STRC):c.4415C>A (p.Pro1472Gln)
|
rs144622511
|
|
NM_153700.2(STRC):c.4559C>A (p.Pro1520His)
|
rs1246240978
|
|
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe)
|
rs727503441
|
|
NM_153700.2(STRC):c.4919T>G (p.Leu1640Arg)
|
rs727503440
|
|
NM_153700.2(STRC):c.5129_5130delinsAG (p.Ser1710Lys)
|
rs1555446762
|
|
NM_153700.2(STRC):c.877G>A (p.Gly293Ser)
|
rs876658010
|
|
NM_153700.2(STRC):c.911C>T (p.Ala304Val)
|
rs727503448
|
|
NM_153700.2(STRC):c.995C>G (p.Ser332Cys)
|
rs1360568237
|
|
NM_170682.4(P2RX2):c.1015A>T (p.Ile339Phe)
|
rs1555299483
|
|
NM_170682.4(P2RX2):c.698A>G (p.Asp233Gly)
|
rs1593676004
|
|
NM_170682.4(P2RX2):c.800A>G (p.Asn267Ser)
|
rs1555299075
|
|
NM_170682.4(P2RX2):c.910G>A (p.Ala304Thr)
|
rs1555299245
|
|
NM_170707.4(LMNA):c.-12A>T
|
rs1553261811
|
|
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1158-3C>T
|
rs727503136
|
|
NM_170707.4(LMNA):c.1223A>C (p.Gln408Pro)
|
rs397517891
|
|
NM_170707.4(LMNA):c.1442A>G (p.Tyr481Cys)
|
rs397517893
|
|
NM_170707.4(LMNA):c.1748C>G (p.Ser583Trp)
|
rs59601651
|
|
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys)
|
rs28928900
|
|
NM_170707.4(LMNA):c.1969-1G>T
|
rs1060499873
|
|
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu)
|
rs727504340
|
|
NM_170707.4(LMNA):c.230T>C (p.Ile77Thr)
|
rs876657850
|
|
NM_170707.4(LMNA):c.232A>G (p.Lys78Glu)
|
rs876657851
|
|
NM_170707.4(LMNA):c.234G>C (p.Lys78Asn)
|
rs727505038
|
|
NM_170707.4(LMNA):c.266G>A (p.Arg89His)
|
rs59040894
|
|
NM_170707.4(LMNA):c.331G>C (p.Glu111Gln)
|
rs61726475
|
|
NM_170707.4(LMNA):c.343_344delinsTT (p.Glu115Leu)
|
rs727503134
|
|
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro)
|
rs397517902
|
|
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr)
|
rs397517903
|
|
NM_170707.4(LMNA):c.449C>T (p.Thr150Ile)
|
rs869069617
|
|
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser)
|
rs267607572
|
|
NM_170707.4(LMNA):c.643C>G (p.Leu215Val)
|
rs397517905
|
|
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)
|
rs727505357
|
|
NM_170707.4(LMNA):c.739G>A (p.Glu247Lys)
|
rs727504373
|
|
NM_170707.4(LMNA):c.860C>T (p.Ala287Val)
|
rs397517910
|
|
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)
|
rs397517912
|
|
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg)
|
rs1060499872
|
|
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro)
|
rs397517927
|
|
NM_173477.5(USH1G):c.451G>A (p.Ala151Thr)
|
rs1598584337
|
|
NM_173477.5(USH1G):c.514C>T (p.Arg172Cys)
|
rs199941325
|
|
NM_173477.5(USH1G):c.607C>G (p.Gln203Glu)
|
rs727504890
|
|
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)
|
rs544952984
|
|
NM_173477.5(USH1G):c.731T>G (p.Leu244Arg)
|
rs200259553
|
|
NM_173477.5(USH1G):c.770G>T (p.Arg257Leu)
|
rs111033521
|
|
NM_173477.5(USH1G):c.806G>A (p.Arg269Gln)
|
rs753080270
|
|
NM_173477.5(USH1G):c.809C>A (p.Ala270Asp)
|
rs755287596
|
|
NM_173477.5(USH1G):c.925C>T (p.Arg309Cys)
|
rs876658113
|
|
NM_173591.3(OTOGL):c.[6220A>G;6221T>C]
|
|
|
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu)
|
rs778849441
|
|
NM_174936.4(PCSK9):c.655C>G (p.Gln219Glu)
|
rs778617372
|
|
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp)
|
rs2063496235
|
|
NM_177987.3(TUBB8):c.[1033C>T;1039A>G]
|
|
|
NM_178170.3(NEK8):c.47+1del
|
rs786204782
|
|
NM_178335.3(CCDC50):c.1157T>C (p.Met386Thr)
|
rs775687066
|
|
NM_178335.3(CCDC50):c.1221A>C (p.Arg407Ser)
|
rs727504888
|
|
NM_178335.3(CCDC50):c.1303A>C (p.Lys435Gln)
|
rs1553844770
|
|
NM_178335.3(CCDC50):c.914G>C (p.Arg305Thr)
|
rs896068890
|
|
NM_181458.4(PAX3):c.1174-3del
|
rs749733628
|
|
NM_181458.4(PAX3):c.871C>T (p.Pro291Ser)
|
rs199651907
|
|
NM_182548.4(LHFPL5):c.214G>A (p.Val72Met)
|
rs727503133
|
|
NM_182961.4(SYNE1):c.2097+3_2097+15del
|
rs1593220945
|
|
NM_182961.4(SYNE1):c.3855C>T (p.Ile1285=)
|
rs1592776784
|
|
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)
|
rs104894497
|
|
NM_194248.3(OTOF):c.1024G>C (p.Gly342Arg)
|
rs1572444852
|
|
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)
|
rs80356585
|
|
NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp)
|
rs745520384
|
|
NM_194248.3(OTOF):c.2287G>T (p.Val763Phe)
|
rs138545671
|
|
NM_194248.3(OTOF):c.235G>A (p.Gly79Arg)
|
rs727504911
|
|
NM_194248.3(OTOF):c.2523G>T (p.Glu841Asp)
|
rs1553352609
|
|
NM_194248.3(OTOF):c.2896A>G (p.Met966Val)
|
rs921891243
|
|
NM_194248.3(OTOF):c.327+3G>C
|
rs876657935
|
|
NM_194248.3(OTOF):c.3488C>T (p.Ala1163Val)
|
rs755175941
|
|
NM_194248.3(OTOF):c.3866C>T (p.Thr1289Ile)
|
rs727504839
|
|
NM_194248.3(OTOF):c.3893T>C (p.Val1298Ala)
|
rs397517946
|
|
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del)
|
rs368148603
|
|
NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup)
|
rs368148603
|
|
NM_194248.3(OTOF):c.4440G>A (p.Met1480Ile)
|
rs727503354
|
|
NM_194248.3(OTOF):c.4822G>T (p.Asp1608Tyr)
|
rs111033425
|
|
NM_194248.3(OTOF):c.514G>A (p.Gly172Arg)
|
rs397517949
|
|
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp)
|
rs142748621
|
|
NM_194248.3(OTOF):c.5695G>A (p.Asp1899Asn)
|
rs137986959
|
|
NM_194248.3(OTOF):c.571C>T (p.Pro191Ser)
|
rs775692695
|
|
NM_194248.3(OTOF):c.898-6C>A
|
rs199687628
|
|
NM_194248.3(OTOF):c.986G>A (p.Arg329His)
|
rs764248648
|
|
NM_194323.3(OTOF):c.3631A>G (p.Met1211Val)
|
rs1482726409
|
|
NM_198253.3(TERT):c.1590G>C (p.Pro530=)
|
rs1396912668
|
|
NM_198253.3(TERT):c.1793T>C (p.Leu598Pro)
|
rs1579577379
|
|
NM_198253.3(TERT):c.2575C>T (p.Arg859Trp)
|
rs876658018
|
|
NM_198253.3(TERT):c.2708C>T (p.Thr903Ile)
|
rs727505125
|
|
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln)
|
rs765566930
|
|
NM_198999.3(SLC26A5):c.1311+3G>T
|
rs397517962
|
|
NM_201384.3(PLEC):c.8948C>T (p.Ala2983Val)
|
rs1017632168
|
|
NM_201596.3(CACNB2):c.1534del (p.Ser512fs)
|
rs767341738
|
|
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe)
|
rs372858877
|
|
NM_203447.4(DOCK8):c.5207C>G (p.Ala1736Gly)
|
rs139990627
|
|
NM_206933.4(USH2A):c.-1C>G
|
rs547139318
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)
|
rs746870063
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)
|
rs1553261469
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
NM_206933.4(USH2A):c.11500T>A (p.Leu3834Met)
|
rs1553257690
|
|
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met)
|
rs397517975
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)
|
rs1436435041
|
|
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)
|
rs147304271
|
|
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)
|
rs727505117
|
|
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe)
|
rs397517985
|
|
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val)
|
rs763576540
|
|
NM_206933.4(USH2A):c.13238C>G (p.Pro4413Arg)
|
rs1553252404
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13882C>G (p.Pro4628Ala)
|
rs1571945599
|
|
NM_206933.4(USH2A):c.14254G>A (p.Val4752Met)
|
rs770161970
|
|
NM_206933.4(USH2A):c.15002A>C (p.Glu5001Ala)
|
rs1558033265
|
|
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr)
|
rs397517999
|
|
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)
|
rs746098518
|
|
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn)
|
rs774383785
|
|
NM_206933.4(USH2A):c.1648G>C (p.Asp550His)
|
rs727504805
|
|
NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala)
|
rs772955674
|
|
NM_206933.4(USH2A):c.182C>A (p.Pro61Gln)
|
rs938662688
|
|
NM_206933.4(USH2A):c.1934C>T (p.Thr645Ile)
|
rs397518004
|
|
NM_206933.4(USH2A):c.2228G>T (p.Gly743Val)
|
rs727504638
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.2989G>A (p.Gly997Arg)
|
rs397518009
|
|
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg)
|
rs111033377
|
|
NM_206933.4(USH2A):c.3241A>G (p.Asn1081Asp)
|
rs1553315006
|
|
NM_206933.4(USH2A):c.3509C>T (p.Thr1170Ile)
|
rs2034944380
|
|
NM_206933.4(USH2A):c.3584G>C (p.Cys1195Ser)
|
rs727504652
|
|
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe)
|
rs770790346
|
|
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe)
|
rs866592573
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
NM_206933.4(USH2A):c.5254T>G (p.Leu1752Val)
|
rs727503728
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6805+6T>A
|
rs746355792
|
|
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)
|
rs727503722
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
NM_206933.4(USH2A):c.7303C>A (p.Pro2435Thr)
|
rs727503720
|
|
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp)
|
rs397518031
|
|
NM_206933.4(USH2A):c.7595-2140G>C
|
rs1665201229
|
|
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu)
|
rs774559456
|
|
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe)
|
rs397518033
|
|
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr)
|
rs397518038
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
NM_206933.4(USH2A):c.9258+3T>C
|
rs1553268427
|
|
NM_206933.4(USH2A):c.9814C>T (p.Pro3272Ser)
|
rs1198810318
|
|
NM_213569.2(NEBL):c.250-10T>G
|
rs727503339
|
|
NM_213569.2(NEBL):c.65A>T (p.Asp22Val)
|
rs727503341
|
|
Single allele
|
|
|
m.1095T>C
|
rs267606618
|
|
m.1187T>C
|
rs111033320
|
|
m.1385C>T
|
rs111033442
|
|
m.7468C>T
|
rs111033173
|
|
m.7471delC
|
rs111033319
|
|
m.956C>T
|
rs397515729
|
|