NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
NM_000054.7(AVPR2):c.26-6T>G
|
rs56689668
|
0.99968
|
NM_000719.7(CACNA1C):c.5445-511=
|
rs10774054
|
0.99951
|
NM_004415.4(DSP):c.741= (p.Ala247=)
|
rs2806234
|
0.99917
|
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro)
|
rs806052
|
0.99890
|
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr)
|
rs7560008
|
0.99785
|
NM_004525.3(LRP2):c.63G>C (p.Ala21=)
|
rs1559014
|
0.99771
|
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala)
|
rs1552311
|
0.99732
|
NM_145649.5(GCNT2):c.926-34546C>G
|
rs539351
|
0.99662
|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
0.98540
|
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.97933
|
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met)
|
rs2438378
|
0.97114
|
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)
|
rs268674
|
0.95976
|
NM_007327.4(GRIN1):c.1467+8G>A
|
rs10747050
|
0.95319
|
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala)
|
rs7592429
|
0.95088
|
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)
|
rs3027238
|
0.94552
|
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)
|
rs3742883
|
0.93729
|
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly)
|
rs2438374
|
0.93517
|
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=)
|
rs7213318
|
0.93459
|
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)
|
rs425876
|
0.92861
|
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=)
|
rs4975629
|
0.91839
|
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)
|
rs1801726
|
0.91749
|
NM_032119.4(ADGRV1):c.18625-7T>C
|
rs7726023
|
0.91136
|
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)
|
rs8037349
|
0.90740
|
NM_001184.4(ATR):c.7875G>A (p.Gln2625=)
|
rs1802904
|
0.88595
|
NM_000404.4(GLB1):c.34T>C (p.Leu12=)
|
rs7614776
|
0.88431
|
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val)
|
rs2487068
|
0.87306
|
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr)
|
rs217086
|
0.87257
|
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
NM_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.86241
|
NM_198525.3(KIF7):c.2658A>C (p.Ala886=)
|
rs3803531
|
0.85312
|
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=)
|
rs28580074
|
0.84910
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_078470.6(COX15):c.*1126T>C
|
rs2231687
|
0.83974
|
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
|
rs4761829
|
0.81114
|
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
|
rs711631
|
0.80127
|
NM_015915.5(ATL1):c.351G>A (p.Glu117=)
|
rs1060197
|
0.79691
|
NM_020975.6(RET):c.2307G>T (p.Leu769=)
|
rs1800861
|
0.79547
|
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=)
|
rs1376041
|
0.79529
|
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu)
|
rs2075252
|
0.79497
|
NM_020975.6(RET):c.135A>G (p.Ala45=)
|
rs1800858
|
0.79274
|
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)
|
rs390659
|
0.78498
|
NM_004836.7(EIF2AK3):c.439-170A>G
|
rs7571971
|
0.77862
|
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)
|
rs11553521
|
0.77624
|
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)
|
rs3826543
|
0.77529
|
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)
|
rs434102
|
0.77412
|
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys)
|
rs2366928
|
0.76700
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_032119.4(ADGRV1):c.2367+8C>T
|
rs2366773
|
0.76285
|
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=)
|
rs1139405
|
0.75861
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_000379.4(XDH):c.3276+12A>G
|
rs1366813
|
0.75380
|
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
|
rs4630153
|
0.75355
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)
|
rs2366777
|
0.74245
|
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser)
|
rs1878878
|
0.74142
|
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
|
rs6432860
|
0.73885
|
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)
|
rs2298771
|
0.73872
|
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)
|
rs4916684
|
0.73682
|
NM_014336.5(AIPL1):c.651A>G (p.Pro217=)
|
rs2292546
|
0.73525
|
NM_138694.4(PKHD1):c.8798-19A>C
|
rs1326605
|
0.73187
|
NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.71202
|
NM_000069.3(CACNA1S):c.1828-5T>C
|
rs1998721
|
0.71016
|
NM_006005.3(WFS1):c.2565A>G (p.Ser855=)
|
rs1046316
|
0.70506
|
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=)
|
rs9646771
|
0.70187
|
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)
|
rs3729547
|
0.69444
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)
|
rs1494558
|
0.68368
|
NM_006005.3(WFS1):c.684C>G (p.Arg228=)
|
rs1801213
|
0.68223
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)
|
rs11080572
|
0.67857
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
NM_000505.4(F12):c.-4T>C
|
rs1801020
|
0.67118
|
NM_002156.5(HSPD1):c.273A>G (p.Lys91=)
|
rs8539
|
0.67099
|
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala)
|
rs10820900
|
0.66416
|
NM_201384.3(PLEC):c.2457+6C>T
|
rs11780911
|
0.66214
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000240.4(MAOA):c.1410T>C (p.Asp470=)
|
rs1137070
|
0.65298
|
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)
|
rs3134031
|
0.64845
|
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)
|
rs4407724
|
0.64816
|
NM_001018005.2(TPM1):c.453C>A (p.Ala151=)
|
rs1071646
|
0.64628
|
NM_207346.3(TSEN54):c.285+32C>A
|
rs7218675
|
0.64612
|
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)
|
rs6432901
|
0.64588
|
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=)
|
rs914428
|
0.64398
|
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
|
rs2248069
|
0.64010
|
NM_006005.3(WFS1):c.1500C>T (p.Asn500=)
|
rs1801214
|
0.63787
|
NM_001184.4(ATR):c.1776T>A (p.Gly592=)
|
rs2227930
|
0.63717
|
NM_006005.3(WFS1):c.461-9A>G
|
rs10010131
|
0.63169
|
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)
|
rs2228524
|
0.62551
|
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)
|
rs303815
|
0.62374
|
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)
|
rs2256135
|
0.62211
|
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln)
|
rs6415788
|
0.62075
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)
|
rs7111873
|
0.61686
|
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)
|
rs7126210
|
0.61595
|
NM_014271.4(IL1RAPL1):c.-19G>A
|
rs6526806
|
0.61514
|
NM_004525.3(LRP2):c.2025C>T (p.Val675=)
|
rs830994
|
0.61350
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu)
|
rs4667591
|
0.60691
|
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=)
|
rs990626
|
0.59977
|
NM_000322.5(PRPH2):c.318T>C (p.Val106=)
|
rs7764439
|
0.59853
|
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)
|
rs901854
|
0.59379
|
NM_181882.3(PRX):c.2645T>C (p.Val882Ala)
|
rs268671
|
0.59048
|
NM_030665.4(RAI1):c.1992G>A (p.Pro664=)
|
rs8067439
|
0.58185
|
NM_006005.3(WFS1):c.2433G>A (p.Lys811=)
|
rs1046314
|
0.57941
|
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)
|
rs9648691
|
0.57506
|
NM_181882.3(PRX):c.2655T>C (p.Pro885=)
|
rs268672
|
0.56968
|
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=)
|
rs6747673
|
0.56670
|
NM_006005.3(WFS1):c.1185C>T (p.Val395=)
|
rs1801206
|
0.56648
|
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)
|
rs3735801
|
0.55959
|
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)
|
rs3735802
|
0.55845
|
NM_004525.3(LRP2):c.2460A>G (p.Thr820=)
|
rs2241190
|
0.54408
|
NM_015559.3(SETBP1):c.540+7405G>A
|
rs663651
|
0.54347
|
NM_002769.5(PRSS1):c.738T>C (p.Asn246=)
|
rs6667
|
0.53816
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=)
|
rs831043
|
0.53755
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)
|
rs9672286
|
0.53592
|
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=)
|
rs2292597
|
0.53313
|
NM_003331.5(TYK2):c.1669+7T>C
|
rs280519
|
0.52527
|
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)
|
rs12900805
|
0.52523
|
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)
|
rs3803530
|
0.52464
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52364
|
NM_000587.4(C7):c.1166G>C (p.Ser389Thr)
|
rs1063499
|
0.51910
|
NM_001415.4(EIF2S3):c.99C>T (p.His33=)
|
rs36018672
|
0.51303
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser)
|
rs9490809
|
0.50546
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
NM_000217.3(KCNA1):c.804G>C (p.Thr268=)
|
rs2227910
|
0.50318
|
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=)
|
rs2645339
|
0.49941
|
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=)
|
rs1129768
|
0.49865
|
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)
|
rs7598901
|
0.49457
|
NM_000383.4(AIRE):c.1578T>C (p.Asp526=)
|
rs1133779
|
0.49415
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
NM_000448.3(RAG1):c.746A>G (p.His249Arg)
|
rs3740955
|
0.48211
|
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
|
rs2303606
|
0.47852
|
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)
|
rs1048099
|
0.47531
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
NM_000217.3(KCNA1):c.684T>C (p.Cys228=)
|
rs1048500
|
0.46819
|
NM_000352.6(ABCC8):c.579+14C>T
|
rs2301703
|
0.46493
|
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe)
|
rs1801195
|
0.46398
|
NM_001297.5(CNGB1):c.1122-15C>T
|
rs2303778
|
0.46316
|
NM_000553.6(WRN):c.3138+7G>A
|
rs2737335
|
0.46283
|
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)
|
rs3747562
|
0.45408
|
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=)
|
rs2229265
|
0.45093
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
NM_000553.6(WRN):c.2361G>T (p.Leu787=)
|
rs1800392
|
0.44630
|
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg)
|
rs2244492
|
0.44551
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_001202.6(BMP4):c.455T>C (p.Val152Ala)
|
rs17563
|
0.44424
|
NM_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)
|
rs3803763
|
0.43727
|
NM_006005.3(WFS1):c.1832G>A (p.Arg611His)
|
rs734312
|
0.43085
|
NM_000214.3(JAG1):c.765C>T (p.Tyr255=)
|
rs1131695
|
0.42930
|
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)
|
rs10781542
|
0.42574
|
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)
|
rs10870194
|
0.42571
|
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)
|
rs3818717
|
0.42485
|
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=)
|
rs7301328
|
0.41972
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=)
|
rs2075249
|
0.41290
|
NM_000243.3(MEFV):c.1764G>A (p.Pro588=)
|
rs1231122
|
0.41230
|
NM_004260.4(RECQL4):c.3236+13C>T
|
rs4244610
|
0.41215
|
NM_000383.4(AIRE):c.1197T>C (p.Ala399=)
|
rs1800521
|
0.39834
|
NM_000203.5(IDUA):c.60G>A (p.Ala20=)
|
rs10902762
|
0.39819
|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
NM_000553.6(WRN):c.3138+6C>T
|
rs3024239
|
0.39769
|
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)
|
rs7413162
|
0.39681
|
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=)
|
rs60992377
|
0.39132
|
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=)
|
rs1806191
|
0.39095
|
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)
|
rs2276625
|
0.39011
|
NM_000384.3(APOB):c.7545C>T (p.Thr2515=)
|
rs693
|
0.38722
|
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=)
|
rs2229267
|
0.38704
|
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=)
|
rs2227283
|
0.38493
|
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=)
|
rs13402180
|
0.38348
|
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=)
|
rs13414203
|
0.38341
|
NM_020247.5(COQ8A):c.1573-20C>G
|
rs2297416
|
0.38143
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=)
|
rs6233
|
0.38001
|
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
NM_001077415.3(CRELD1):c.1049-393C>T
|
rs3774207
|
0.37804
|
NM_201525.4(ADGRG1):c.1168-20C>A
|
rs2305309
|
0.37206
|
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)
|
rs2252755
|
0.36980
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.36505
|
NM_181882.3(PRX):c.2763A>G (p.Ile921Met)
|
rs268673
|
0.36279
|
NM_003244.4(TGIF1):c.16+1720del
|
rs11571510
|
0.36186
|
NM_000410.4(HFE):c.340+4T>C
|
rs2071303
|
0.35994
|
NM_033337.3(CAV3):c.99C>T (p.Asn33=)
|
rs1008642
|
0.35756
|
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)
|
rs11649804
|
0.35747
|
NM_030665.4(RAI1):c.840del (p.Gln280fs)
|
rs34083643
|
0.35741
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35138
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)
|
rs4148211
|
0.34608
|
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=)
|
rs6750044
|
0.34586
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
NM_000311.5(PRNP):c.385A>G (p.Met129Val)
|
rs1799990
|
0.33516
|
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser)
|
rs2229263
|
0.33289
|
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=)
|
rs10176588
|
0.33260
|
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp)
|
rs1860967
|
0.33038
|
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)
|
rs1053315
|
0.32659
|
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=)
|
rs3747563
|
0.32044
|
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)
|
rs13181
|
0.31719
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_001253852.3(AP4B1):c.618-13G>C
|
rs3789613
|
0.31448
|
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
|
rs6647
|
0.31278
|
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=)
|
rs13079522
|
0.30736
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=)
|
rs17038714
|
0.29915
|
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)
|
rs2252748
|
0.29787
|
NM_021956.5(GRIK2):c.2312-9C>T
|
rs2227281
|
0.29507
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_001098.3(ACO2):c.192A>C (p.Thr64=)
|
rs137831
|
0.29094
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27837
|
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)
|
rs9353806
|
0.27343
|
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)
|
rs1043424
|
0.27338
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)
|
rs1799793
|
0.26310
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)
|
rs2464196
|
0.26206
|
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=)
|
rs8107538
|
0.26133
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)
|
rs3748361
|
0.25511
|
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)
|
rs3737515
|
0.25425
|
NM_198525.3(KIF7):c.3517+6C>T
|
rs74251725
|
0.25419
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_017950.4(CCDC40):c.2832+313A>G
|
rs7210679
|
0.25232
|
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr)
|
rs2228171
|
0.25207
|
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)
|
rs11575934
|
0.25155
|
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707
|
0.24238
|
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)
|
rs12402052
|
0.24010
|
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
|
rs16868972
|
0.23938
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)
|
rs11121552
|
0.23676
|
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=)
|
rs1806201
|
0.23527
|
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val)
|
rs214950
|
0.23524
|
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)
|
rs1800136
|
0.23407
|
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)
|
rs2238472
|
0.22903
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22492
|
NM_005120.3(MED12):c.736-8A>C
|
rs62609586
|
0.22423
|
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)
|
rs10240503
|
0.22240
|
NM_001244008.2(KIF1A):c.3641-8C>T
|
rs56024577
|
0.22160
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)
|
rs1303
|
0.21786
|
NM_000383.4(AIRE):c.681C>T (p.Gly227=)
|
rs1055311
|
0.21613
|
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His)
|
rs36051007
|
0.21486
|
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)
|
rs446227
|
0.21425
|
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val)
|
rs15251
|
0.21165
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20641
|
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)
|
rs8179065
|
0.20556
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_014141.6(CNTNAP2):c.1777+10A>G
|
rs2286127
|
0.20355
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=)
|
rs6880570
|
0.20255
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)
|
rs2228527
|
0.19565
|
NM_000027.4(AGA):c.281+13T>G
|
rs34241758
|
0.19395
|
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)
|
rs2228526
|
0.19072
|
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)
|
rs2228529
|
0.18890
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_000587.4(C7):c.1759A>C (p.Thr587Pro)
|
rs13157656
|
0.18623
|
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
|
rs11558179
|
0.18595
|
NM_000383.4(AIRE):c.588C>T (p.Ser196=)
|
rs878081
|
0.18544
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_000383.4(AIRE):c.99T>C (p.Ala33=)
|
rs3746964
|
0.18036
|
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)
|
rs16030
|
0.17482
|
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)
|
rs34592169
|
0.17471
|
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)
|
rs73066479
|
0.16867
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro)
|
rs17854645
|
0.16605
|
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)
|
rs1805388
|
0.16468
|
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=)
|
rs950692
|
0.15398
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032
|
0.14695
|
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
|
rs2234962
|
0.14532
|
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser)
|
rs28661939
|
0.14124
|
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)
|
rs16025
|
0.14118
|
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023
|
0.13336
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg)
|
rs2279343
|
0.12936
|
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg)
|
rs3745202
|
0.12427
|
NM_181882.3(PRX):c.306C>T (p.Thr102=)
|
rs744389
|
0.12409
|
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His)
|
rs11575926
|
0.12190
|
NM_207346.3(TSEN54):c.370-19C>A
|
rs56895494
|
0.12137
|
NM_133433.4(NIPBL):c.3575-17A>G
|
rs78827246
|
0.12109
|
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022
|
0.11855
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
NM_000214.3(JAG1):c.588C>T (p.Cys196=)
|
rs1801138
|
0.10620
|
NM_003283.6(TNNT1):c.129-9T>G
|
rs67795913
|
0.10318
|
NM_001378615.1(CC2D2A):c.2003+19C>T
|
rs17476642
|
0.09677
|
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly)
|
rs3729989
|
0.09621
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=)
|
rs61739560
|
0.08885
|
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=)
|
rs57593250
|
0.08881
|
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=)
|
rs34457678
|
0.08878
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)
|
rs3729845
|
0.08311
|
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln)
|
rs12968116
|
0.08072
|
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)
|
rs16006
|
0.08064
|
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=)
|
rs4840500
|
0.08031
|
NM_000041.2(APOE):c.526C>T (p.Arg176Cys)
|
rs7412
|
0.07986
|
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)
|
rs6092
|
0.07905
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=)
|
rs591040
|
0.07584
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07445
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)
|
rs28711516
|
0.06950
|
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)
|
rs72657698
|
0.06836
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
NM_001195248.2(APTX):c.484-12_484-11insG
|
rs377129152
|
0.06469
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)
|
rs5743291
|
0.06122
|
NM_001355436.2(SPTB):c.4564-4G>A
|
rs4902312
|
0.05860
|
NM_016373.4(WWOX):c.517-108230A>G
|
rs77067228
|
0.05744
|
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val)
|
rs73040625
|
0.05426
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)
|
rs73826339
|
0.05158
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_002617.4(PEX10):c.279C>T (p.Gly93=)
|
rs1143016
|
0.05120
|
NM_206937.2(LIG4):c.8C>T (p.Ala3Val)
|
rs1805389
|
0.04996
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_014049.5(ACAD9):c.-44_-41dup
|
rs387906242
|
0.04863
|
NM_000257.4(MYH7):c.2923-18G>A
|
rs7157087
|
0.04825
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)
|
rs58022607
|
0.04393
|
NM_000492.4(CFTR):c.-8G>C
|
rs1800501
|
0.04368
|
NM_001204.7(BMPR2):c.853-21dup
|
rs11464745
|
0.04307
|
NM_032545.4(CFC1):c.61A>C (p.Asn21His)
|
rs199607550
|
0.04207
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
NM_002230.4(JUP):c.425G>A (p.Arg142His)
|
rs41283425
|
0.03910
|
NM_174936.4(PCSK9):c.658-36G>A
|
rs11800265
|
0.03888
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
NM_020975.6(RET):c.2508C>T (p.Ser836=)
|
rs1800862
|
0.03791
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_007262.5(PARK7):c.234C>T (p.Gly78=)
|
rs11548937
|
0.03501
|
NM_001101.5(ACTB):c.942G>A (p.Gln314=)
|
rs11546939
|
0.03418
|
NM_000257.4(MYH7):c.1605A>G (p.Glu535=)
|
rs2069543
|
0.03319
|
NM_001710.6(CFB):c.26T>A (p.Leu9His)
|
rs4151667
|
0.03314
|
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)
|
rs35829419
|
0.03262
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln)
|
rs35168378
|
0.02818
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02697
|
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)
|
rs115532916
|
0.02662
|
NM_024496.4(IRF2BPL):c.336_346del (p.Gln113fs)
|
rs776735350
|
0.02660
|
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)
|
rs17604693
|
0.02655
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)
|
rs8187801
|
0.02594
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_001134363.3(RBM20):c.1801-11G>C
|
rs12572941
|
0.02426
|
NM_000257.4(MYH7):c.895+17G>A
|
rs45580436
|
0.02377
|
NM_000513.2(OPN1MW):c.521C>T (p.Ala174Val)
|
rs372044027
|
0.02377
|
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)
|
rs41311343
|
0.02332
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=)
|
rs3218719
|
0.02170
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=)
|
rs138705766
|
0.02134
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01865
|
NM_000168.6(GLI3):c.2835G>C (p.Leu945=)
|
rs61758978
|
0.01858
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_177438.3(DICER1):c.4206+9_4206+17del
|
rs772457274
|
0.01816
|
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)
|
rs28730701
|
0.01764
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)
|
rs61340537
|
0.01730
|
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)
|
rs41278174
|
0.01708
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_001171.6(ABCC6):c.3507-3C>T
|
rs41278172
|
0.01517
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln)
|
rs61995925
|
0.01476
|
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
|
rs74874677
|
0.01472
|
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)
|
rs7140196
|
0.01445
|
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=)
|
rs11570097
|
0.01438
|
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp)
|
rs147979536
|
0.01429
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)
|
rs141736123
|
0.01357
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=)
|
rs73098087
|
0.01305
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_014687.4(RUBCN):c.2126C>T (p.Thr709Met)
|
rs35071969
|
0.01288
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_000257.4(MYH7):c.3972+15C>T
|
rs3729820
|
0.01159
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
NM_030665.4(RAI1):c.840_849del (p.Gln280fs)
|
rs760854027
|
0.01119
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=)
|
rs62426382
|
0.01086
|
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)
|
rs34629171
|
0.01070
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_001184.4(ATR):c.891G>C (p.Lys297Asn)
|
rs2229033
|
0.01036
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00997
|
NM_007137.5(ZNF81):c.554C>T (p.Ser185Leu)
|
rs186251256
|
0.00975
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
|
rs114814747
|
0.00964
|
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)
|
rs116474260
|
0.00939
|
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg)
|
rs111449472
|
0.00935
|
NM_015192.4(PLCB1):c.2413+9C>T
|
rs138442805
|
0.00934
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)
|
rs73025979
|
0.00908
|
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=)
|
rs117020413
|
0.00908
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
|
rs3729823
|
0.00861
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu)
|
rs3188691
|
0.00856
|
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)
|
rs140237315
|
0.00855
|
NM_000257.4(MYH7):c.597A>G (p.Ala199=)
|
rs2069541
|
0.00853
|
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser)
|
rs79321413
|
0.00851
|
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)
|
rs5030672
|
0.00847
|
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)
|
rs75937132
|
0.00847
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00841
|
NM_024422.6(DSC2):c.351A>G (p.Thr117=)
|
rs117812913
|
0.00832
|
NM_174936.4(PCSK9):c.141C>T (p.Ser47=)
|
rs28385701
|
0.00815
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=)
|
rs77898819
|
0.00804
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)
|
rs62109744
|
0.00795
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser)
|
rs17220206
|
0.00770
|
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)
|
rs111033429
|
0.00767
|
NM_182961.4(SYNE1):c.156T>C (p.Asp52=)
|
rs139156106
|
0.00761
|
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe)
|
rs3747333
|
0.00756
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_201378.4(PLEC):c.71-11718C>T
|
rs190222339
|
0.00708
|
NM_213599.3(ANO5):c.1545A>G (p.Ser515=)
|
rs35843353
|
0.00699
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)
|
rs55984131
|
0.00696
|
NM_001927.4(DES):c.735+20C>T
|
rs151226355
|
0.00694
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)
|
rs187810163
|
0.00617
|
NM_033629.6(TREX1):c.462T>C (p.Asp154=)
|
rs3135944
|
0.00613
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=)
|
rs138477292
|
0.00609
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00601
|
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala)
|
rs117804715
|
0.00599
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
NM_000460.4(THPO):c.-259G>A
|
rs41266279
|
0.00584
|
NM_032119.4(ADGRV1):c.2553+11T>A
|
rs73181640
|
0.00580
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_001134363.3(RBM20):c.1881-3C>T
|
rs138436392
|
0.00575
|
NM_014687.4(RUBCN):c.1971C>T (p.Ala657=)
|
rs148884163
|
0.00574
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)
|
rs138123155
|
0.00559
|
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)
|
rs117995220
|
0.00559
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
NM_004247.4(EFTUD2):c.1058+3_1058+7del
|
rs536749831
|
0.00538
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)
|
rs61753399
|
0.00482
|
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801
|
0.00476
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
NM_031418.4(ANO3):c.164C>T (p.Ser55Phe)
|
rs61746297
|
0.00470
|
NM_000257.4(MYH7):c.*20G>A
|
rs45548631
|
0.00463
|
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln)
|
rs150574114
|
0.00455
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala)
|
rs111567318
|
0.00446
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_005634.3(SOX3):c.157G>C (p.Val53Leu)
|
rs200361128
|
0.00403
|
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=)
|
rs186670912
|
0.00400
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)
|
rs41289628
|
0.00391
|
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser)
|
rs147542347
|
0.00389
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=)
|
rs114957070
|
0.00386
|
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met)
|
rs146590898
|
0.00379
|
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)
|
rs34580776
|
0.00376
|
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)
|
rs34715591
|
0.00373
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00365
|
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr)
|
rs182428755
|
0.00362
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)
|
rs139600783
|
0.00337
|
NM_139058.3(ARX):c.1074-3T>C
|
rs200700643
|
0.00337
|
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg)
|
rs116593093
|
0.00333
|
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg)
|
rs143253411
|
0.00332
|
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)
|
rs151111203
|
0.00322
|
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met)
|
rs114842875
|
0.00322
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00316
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_016373.4(WWOX):c.1134C>T (p.Asn378=)
|
rs201088847
|
0.00274
|
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)
|
rs77758574
|
0.00270
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)
|
rs77144743
|
0.00264
|
NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly)
|
rs201652303
|
0.00262
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp)
|
rs148761331
|
0.00261
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_002230.4(JUP):c.2025T>C (p.His675=)
|
rs140670556
|
0.00259
|
NM_002230.4(JUP):c.1159-13C>A
|
rs201627219
|
0.00258
|
NM_006502.3(POLH):c.626G>T (p.Gly209Val)
|
rs2307456
|
0.00253
|
NM_000257.4(MYH7):c.3853+7C>T
|
rs45467397
|
0.00247
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)
|
rs41278047
|
0.00243
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_021783.5(EDA2R):c.334C>T (p.Pro112Ser)
|
rs12837393
|
0.00234
|
NM_015107.3(PHF8):c.2720G>A (p.Arg907His)
|
rs142630105
|
0.00233
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
0.00211
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_000718.4(CACNA1B):c.4308+10C>T
|
rs144980930
|
0.00188
|
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)
|
rs11570052
|
0.00187
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala)
|
rs202093758
|
0.00166
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_004415.4(DSP):c.1920C>T (p.Ile640=)
|
rs74806300
|
0.00156
|
NM_020822.3(KCNT1):c.435-17G>A
|
rs140115987
|
0.00140
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)
|
rs139521707
|
0.00121
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)
|
rs137974312
|
0.00106
|
NM_001267550.2(TTN):c.29605-12T>C
|
rs143352892
|
0.00104
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)
|
rs111387770
|
0.00097
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_030665.4(RAI1):c.840_843del (p.Gln280fs)
|
rs775735568
|
0.00094
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_007214.5(SEC63):c.340-7T>C
|
rs1569557
|
0.00081
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00078
|
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_000047.3(ARSL):c.23+5G>C
|
rs200062390
|
0.00068
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp)
|
rs146350208
|
0.00060
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00037
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_198253.3(TERT):c.2775C>T (p.His925=)
|
rs34528119
|
0.00035
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_002471.4(MYH6):c.4359+5A>G
|
rs193283041
|
0.00031
|
NM_002471.4(MYH6):c.4359+8A>C
|
rs188675676
|
0.00031
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
NM_007214.5(SEC63):c.340-8T>C
|
rs1569556
|
0.00016
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_004006.3(DMD):c.3432+10A>G
|
rs746260475
|
0.00010
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_001352000.1(LOC110384692):c.2719= (p.Ala907=)
|
rs796750528
|
0.00006
|
NM_181486.4(TBX5):c.786C>T (p.Thr262=)
|
rs375955080
|
0.00006
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile)
|
rs80358853
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_003334.4(UBA1):c.2376G>A (p.Gln792=)
|
rs782085921
|
0.00004
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)
|
rs80358466
|
0.00002
|
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)
|
rs200616931
|
0.00002
|
NM_000059.4(BRCA2):c.987G>A (p.Arg329=)
|
rs561002197
|
0.00001
|
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=)
|
rs553616378
|
0.00001
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
NM_000051.4(ATM):c.3403-13dup
|
rs3218681
|
|
NM_000051.4(ATM):c.497-4del
|
rs768748099
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000081.4(LYST):c.11268-5del
|
rs36014994
|
|
NM_000085.5(CLCNKB):c.2017-16C>T
|
rs61769892
|
|
NM_000138.5(FBN1):c.5423-30_5423-28del
|
rs56354352
|
|
NM_000153.3(GALC):c.1834+22dup
|
rs34752717
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.4002-11_4002-10del
|
rs59056100
|
|
NM_000181.4(GUSB):c.1790-18dup
|
rs750022485
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
|
rs115790973
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000224.3(KRT18):c.268C>T (p.Arg90Cys)
|
rs1397020078
|
|
NM_000224.3(KRT18):c.274G>C (p.Ala92Pro)
|
rs1434610693
|
|
NM_000224.3(KRT18):c.300C>G (p.Ser100Arg)
|
rs796361379
|
|
NM_000251.3(MSH2):c.942+17_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
NM_000271.5(NPC1):c.1947+8_1947+10dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
|
|
|
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
|
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
|
|
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
|
|
|
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
|
|
|
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
|
|
|
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
|
|
|
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
|
|
|
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
|
|
|
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
|
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
|
|
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)
|
rs13306575
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000478.6(ALPL):c.472+12del
|
rs35423948
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
NM_000527.5(LDLR):c.1359-30C>T
|
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5_706-4del
|
rs60794673
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_001035.2(RYR2):c.14091-11dup
|
rs35563566
|
|
NM_001035.3(RYR2):c.1477-11dup
|
rs397516518
|
|
NM_001035.3(RYR2):c.310-23_310-21del
|
rs547213887
|
|
NM_001035.3(RYR2):c.3599-9del
|
rs11331089
|
|
NM_001048174.2(MUTYH):c.1363A>C (p.Thr455Pro)
|
rs1570363119
|
|
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=)
|
rs113591366
|
|
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del)
|
rs56717389
|
|
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)
|
rs16054
|
|
NM_001127644.2(GABRA1):c.857-9del
|
rs3214859
|
|
NM_001128164.2(ATXN1):c.636GCA[15] (p.Gln225dup)
|
rs751421308
|
|
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup)
|
rs71036212
|
|
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)
|
rs2307890
|
|
NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup)
|
rs55671452
|
|
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)
|
rs890872
|
|
NM_001267550.2(TTN):c.11311+1080del
|
rs58651353
|
|
NM_001267550.2(TTN):c.30683-17dup
|
rs368277751
|
|
NM_001267550.2(TTN):c.40222+2TA[10]
|
rs10580462
|
|
NM_001267550.2(TTN):c.40222+2TA[12]
|
rs10580462
|
|
NM_001267550.2(TTN):c.40222+2TA[9]
|
rs10580462
|
|
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly)
|
rs781195013
|
|
NM_001267550.2(TTN):c.57847+7dup
|
rs111496283
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_001278064.2(GRM1):c.950+8TC[14]
|
rs72225459
|
|
NM_001278064.2(GRM1):c.950+8TC[18]
|
rs72225459
|
|
NM_001291415.2(KDM6A):c.2859-5del
|
rs10605935
|
|
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup)
|
rs797044622
|
|
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
NM_001374828.1(ARID1B):c.1194AGG[3] (p.Gly402del)
|
rs587779748
|
|
NM_001374828.1(ARID1B):c.1211GAG[7] (p.Gly411del)
|
rs747790383
|
|
NM_001374828.1(ARID1B):c.373GCGGCGGCA[1] (p.Ala128_Ala130del)
|
rs769480864
|
|
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup)
|
rs587779743
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])
|
rs78227997
|
|
NM_001384732.1(CPLANE1):c.8633-3del
|
rs34646696
|
|
NM_001388492.1(HTT):c.54GCA[26] (p.Gln32_Gln38dup)
|
rs71180116
|
|
NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=)
|
rs71180116
|
|
NM_001854.4(COL11A1):c.652-6del
|
rs36076089
|
|
NM_001875.5(CPS1):c.-4_-3insTTC
|
rs61509952
|
|
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)
|
rs60216939
|
|
NM_002072.5(GNAQ):c.736-18_736-17dup
|
rs5898555
|
|
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn)
|
rs1805094
|
|
NM_002470.4(MYH3):c.1960-8del
|
rs3216884
|
|
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)
|
rs41550117
|
|
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)
|
rs113614842
|
|
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro)
|
rs751906633
|
|
NM_003126.4(SPTA1):c.6549-12G>A
|
rs857716
|
|
NM_003126.4(SPTA1):c.6789-19_6789-18dup
|
rs5778083
|
|
NM_003194.5(TBP):c.226_227insCAA (p.Gln76delinsProLys)
|
rs1779151861
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe)
|
rs3775291
|
|
NM_003289.4(TPM2):c.773-3dup
|
rs35401252
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)
|
rs141354030
|
|
NM_004006.3(DMD):c.3603+3dup
|
rs5902031
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)
|
rs1042446
|
|
NM_004168.4(SDHA):c.622-13del
|
rs3835068
|
|
NM_004183.4(BEST1):c.715-18TCC[8]
|
rs1805182
|
|
NM_004260.4(RECQL4):c.2463+18_2463+19del
|
rs71320828
|
|
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)
|
rs139438727
|
|
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln)
|
rs3832799
|
|
NM_004366.6(CLCN2):c.1929CCG[3] (p.Arg646dup)
|
rs545787624
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.3370-16dup
|
rs75459669
|
|
NM_004456.5(EZH2):c.118-4del
|
rs3214332
|
|
NM_004477.3(FRG1):c.630-4A>G
|
rs78181874
|
|
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro)
|
rs78067484
|
|
NM_004577.4(PSPH):c.275+1del
|
rs139106189
|
|
NM_005006.7(NDUFS1):c.154-9del
|
rs568965659
|
|
NM_005097.4(LGI1):c.432-6_432-5dup
|
rs61662431
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
NM_005159.5(ACTC1):c.809-58TG[20]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005263.5(GFI1):c.925-40CT[13]
|
rs35896485
|
|
NM_005445.4(SMC3):c.548-5_548-4dup
|
rs199906378
|
|
NM_005989.4(AKR1D1):c.379-4del
|
rs35402657
|
|
NM_006231.4(POLE):c.2865-4del
|
rs369732588
|
|
NM_006828.4(ASCC3):c.1396-3del
|
rs11345864
|
|
NM_007078.3(LDB3):c.896+6669TC[11]
|
rs71019410
|
|
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del)
|
rs71929101
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del)
|
rs375513122
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup)
|
rs375513122
|
|
NM_014251.3(SLC25A13):c.1452+19del
|
rs749506606
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
NM_015450.3(POT1):c.1505+7TGTTT[5]
|
rs66826272
|
|
NM_015570.4(AUTS2):c.3437G>T (p.Gly1146Val)
|
rs150926322
|
|
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter)
|
rs140704891
|
|
NM_020061.6(OPN1LW):c.538= (p.Ala180=)
|
rs1557157655
|
|
NM_020297.4(ABCC9):c.1165-6del
|
rs35857705
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del)
|
rs747975797
|
|
NM_021978.4(ST14):c.1224-6dup
|
rs11368852
|
|
NM_022089.4(ATP13A2):c.3235+44_3235+55del
|
rs143483351
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
NM_022356.4(P3H1):c.2148= (p.Gly716=)
|
rs4660662
|
|
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys)
|
rs4148217
|
|
NM_024334.3(TMEM43):c.163-3del
|
rs371706980
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024496.4(IRF2BPL):c.462CGC[6] (p.Ala162_Ala164del)
|
rs371633333
|
|
NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del)
|
rs371633333
|
|
NM_025000.4(DCAF17):c.322-15dup
|
rs139655160
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
NM_025137.4(SPG11):c.6755-17_6755-15del
|
rs143026515
|
|
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)
|
rs371983878
|
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352
|
|
NM_032427.4(MAML2):c.1782GCA[12] (p.Gln621del)
|
rs60727839
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[10]
|
rs113052866
|
|
NM_138638.5(CFL2):c.312-7del
|
rs35515423
|
|
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)
|
rs531550505
|
|
NM_144969.3(ZDHHC15):c.380-5del
|
rs751518520
|
|
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=)
|
rs1801545
|
|
NM_172362.3(KCNH1):c.80-19dup
|
rs56223346
|
|
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
|
|
|
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
|
|
|
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
|
|
|
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)
|
rs35574083
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
NM_182895.5(SCARF2):c.2240dup (p.Gly749fs)
|
rs5844420
|
|
NM_182895.5(SCARF2):c.2292dup (p.Glu765fs)
|
rs5844418
|
|
NM_182961.4(SYNE1):c.16896+11dup
|
rs545568394
|
|
NM_198525.3(KIF7):c.195G>C (p.Ala65=)
|
rs8179066
|
|
NM_201384.3(PLEC):c.378T>G (p.Ala126=)
|
rs6993938
|
|
NM_213599.3(ANO5):c.2236-10del
|
rs72105710
|
|
NM_213599.3(ANO5):c.295-8dup
|
rs778435515
|
|
NM_213599.3(ANO5):c.364-8del
|
rs146983312
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|
NR_178195.1(LFNG):n.265_268GATG[8]
|
rs34637446
|
|