NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro)
|
rs806052
|
0.99890
|
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser)
|
rs1063242
|
0.99690
|
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=)
|
rs426298
|
0.99420
|
NM_001363.5(DKC1):c.369G>T (p.Thr123=)
|
rs2728532
|
0.99384
|
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)
|
rs2515569
|
0.99154
|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
NM_005045.4(RELN):c.8843+7G>C
|
rs2711885
|
0.98938
|
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly)
|
rs375912738
|
0.98789
|
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)
|
rs27673
|
0.98545
|
NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
0.98540
|
NM_000144.5(FXN):c.54A>G (p.Pro18=)
|
rs2481598
|
0.98511
|
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_006214.4(PHYH):c.153C>T (p.Asn51=)
|
rs1747682
|
0.96869
|
NM_002025.4(AFF2):c.3404+7A>G
|
rs5980615
|
0.95464
|
NM_015386.3(COG4):c.485C>T (p.Thr162Ile)
|
rs3931036
|
0.95397
|
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly)
|
rs2438374
|
0.93517
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)
|
rs425876
|
0.92861
|
NM_031433.4(MFRP):c.540T>C (p.His180=)
|
rs2510143
|
0.91859
|
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)
|
rs1801726
|
0.91749
|
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=)
|
rs5917933
|
0.91469
|
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)
|
rs8037349
|
0.90740
|
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=)
|
rs1989779
|
0.90157
|
NM_002739.5(PRKCG):c.72C>T (p.Ala24=)
|
rs2547362
|
0.89099
|
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_000520.6(HEXA):c.1306A>G (p.Ile436Val)
|
rs1800431
|
0.87890
|
NM_000520.6(HEXA):c.1518A>G (p.Glu506=)
|
rs4777502
|
0.87885
|
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)
|
rs2229960
|
0.86626
|
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_000038.6(APC):c.5465T>A (p.Val1822Asp)
|
rs459552
|
0.82099
|
NM_003282.4(TNNI2):c.60T>C (p.Ser20=)
|
rs907610
|
0.82025
|
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
|
rs4761829
|
0.81114
|
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)
|
rs6911096
|
0.80856
|
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=)
|
rs1044394
|
0.80763
|
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)
|
rs9479297
|
0.80638
|
NM_000335.5(SCN5A):c.87A>G (p.Ala29=)
|
rs6599230
|
0.80621
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)
|
rs1412640
|
0.80210
|
NM_020975.6(RET):c.2307G>T (p.Leu769=)
|
rs1800861
|
0.79547
|
NM_020975.6(RET):c.135A>G (p.Ala45=)
|
rs1800858
|
0.79274
|
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)
|
rs1044393
|
0.78554
|
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)
|
rs390659
|
0.78498
|
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)
|
rs434102
|
0.77412
|
NM_018136.5(ASPM):c.10331+8A>G
|
rs10754213
|
0.77181
|
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_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
|
rs4630153
|
0.75355
|
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=)
|
rs4766309
|
0.75219
|
NM_018136.5(ASPM):c.441+14C>T
|
rs1571964
|
0.74895
|
NM_018136.5(ASPM):c.849C>T (p.Ser283=)
|
rs6677082
|
0.74886
|
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val)
|
rs10882993
|
0.74523
|
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)
|
rs2366777
|
0.74245
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
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_173630.4(RTTN):c.376T>G (p.Ser126Ala)
|
rs3911730
|
0.73528
|
NM_138694.4(PKHD1):c.8798-19A>C
|
rs1326605
|
0.73187
|
NM_022336.4(EDAR):c.1056C>T (p.Cys352=)
|
rs12623957
|
0.72397
|
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
|
rs5219
|
0.72048
|
NM_000240.4(MAOA):c.891G>T (p.Arg297=)
|
rs6323
|
0.71997
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)
|
rs757110
|
0.71935
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile)
|
rs10761129
|
0.71630
|
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg)
|
rs13045
|
0.71334
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.71202
|
NM_025136.4(OPA3):c.231T>C (p.Ala77=)
|
rs3826860
|
0.70508
|
NM_006005.3(WFS1):c.2565A>G (p.Ser855=)
|
rs1046316
|
0.70506
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
NM_006013.5(RPL10):c.605= (p.Ser202=)
|
rs4909
|
0.69154
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_006005.3(WFS1):c.684C>G (p.Arg228=)
|
rs1801213
|
0.68223
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.68008
|
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)
|
rs11080572
|
0.67857
|
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=)
|
rs5926304
|
0.67668
|
NM_006031.6(PCNT):c.7914-16C>T
|
rs2839257
|
0.67468
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
NM_006031.6(PCNT):c.720+17T>C
|
rs9982233
|
0.67221
|
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)
|
rs4674
|
0.66668
|
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)
|
rs284652
|
0.66509
|
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala)
|
rs10820900
|
0.66416
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
NM_201384.3(PLEC):c.2457+6C>T
|
rs11780911
|
0.66214
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=)
|
rs7580482
|
0.66162
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
NM_000240.4(MAOA):c.1410T>C (p.Asp470=)
|
rs1137070
|
0.65298
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65135
|
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)
|
rs7575451
|
0.64120
|
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_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
NM_001184.4(ATR):c.632T>C (p.Met211Thr)
|
rs2227928
|
0.63625
|
NM_000709.4(BCKDHA):c.995+49G>A
|
rs284654
|
0.63462
|
NM_006005.3(WFS1):c.461-9A>G
|
rs10010131
|
0.63169
|
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=)
|
rs1128503
|
0.63165
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu)
|
rs6818847
|
0.62431
|
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln)
|
rs6415788
|
0.62075
|
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe)
|
rs780668
|
0.61569
|
NM_014271.4(IL1RAPL1):c.-19G>A
|
rs6526806
|
0.61514
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
NM_014336.5(AIPL1):c.300A>G (p.Leu100=)
|
rs8075035
|
0.60839
|
NM_000231.3(SGCG):c.705T>C (p.Leu235=)
|
rs1800353
|
0.60006
|
NM_000322.5(PRPH2):c.318T>C (p.Val106=)
|
rs7764439
|
0.59853
|
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)
|
rs2229589
|
0.59558
|
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala)
|
rs891398
|
0.58886
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
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_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
NM_001032382.2(PQBP1):c.180-3C>T
|
rs741932
|
0.57792
|
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr)
|
rs1135840
|
0.57695
|
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)
|
rs9648691
|
0.57506
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_006059.4(LAMC3):c.219T>G (p.His73Gln)
|
rs3739512
|
0.56936
|
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_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_018055.5(NODAL):c.494A>G (p.His165Arg)
|
rs1904589
|
0.56006
|
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)
|
rs4664475
|
0.55659
|
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=)
|
rs6558406
|
0.55590
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=)
|
rs6558405
|
0.54173
|
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=)
|
rs7014582
|
0.54076
|
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=)
|
rs7822511
|
0.53938
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)
|
rs9672286
|
0.53592
|
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro)
|
rs7833924
|
0.53335
|
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)
|
rs12900805
|
0.52523
|
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=)
|
rs2438349
|
0.52519
|
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)
|
rs3803530
|
0.52464
|
NM_014336.5(AIPL1):c.277-10A>C
|
rs12453262
|
0.52383
|
NM_001953.5(TYMP):c.972C>T (p.Ala324=)
|
rs131804
|
0.51130
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=)
|
rs7819099
|
0.50384
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
NM_022464.5(SIL1):c.153A>G (p.Thr51=)
|
rs3088052
|
0.50252
|
NM_005045.4(RELN):c.8046T>C (p.His2682=)
|
rs2229864
|
0.49951
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
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_005045.4(RELN):c.578-3T>C
|
rs607755
|
0.49658
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793
|
0.48793
|
NM_000104.4(CYP1B1):c.1294= (p.Leu432=)
|
rs1056836
|
0.48746
|
NM_000243.3(MEFV):c.306T>C (p.Asp102=)
|
rs224225
|
0.48544
|
NM_000243.3(MEFV):c.495C>A (p.Ala165=)
|
rs224223
|
0.48450
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
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_001386140.1(MTTP):c.453T>C (p.Gly151=)
|
rs991811
|
0.47516
|
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)
|
rs6493068
|
0.47359
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
NM_001297.5(CNGB1):c.1122-15C>T
|
rs2303778
|
0.46316
|
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
|
rs1055138
|
0.46276
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)
|
rs11120047
|
0.45814
|
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=)
|
rs1056875
|
0.45696
|
NM_024596.5(MCPH1):c.2215-19A>G
|
rs2936531
|
0.45478
|
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)
|
rs3747562
|
0.45408
|
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=)
|
rs1063353
|
0.45235
|
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=)
|
rs10966
|
0.45223
|
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=)
|
rs2229265
|
0.45093
|
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)
|
rs2247870
|
0.45079
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_001202.6(BMP4):c.455T>C (p.Val152Ala)
|
rs17563
|
0.44424
|
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=)
|
rs1805126
|
0.44288
|
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)
|
rs3803763
|
0.43727
|
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala)
|
rs2241880
|
0.43552
|
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)
|
rs2496425
|
0.43515
|
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=)
|
rs1131824
|
0.43499
|
NM_006005.3(WFS1):c.1832G>A (p.Arg611His)
|
rs734312
|
0.43085
|
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)
|
rs3818717
|
0.42485
|
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=)
|
rs28407527
|
0.42407
|
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)
|
rs3027875
|
0.42119
|
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=)
|
rs10228334
|
0.42044
|
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=)
|
rs13245393
|
0.42036
|
NM_014324.6(AMACR):c.25G>A (p.Val9Met)
|
rs3195676
|
0.42007
|
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=)
|
rs7301328
|
0.41972
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_000243.3(MEFV):c.1764G>A (p.Pro588=)
|
rs1231122
|
0.41230
|
NM_004260.4(RECQL4):c.3236+13C>T
|
rs4244610
|
0.41215
|
NM_005751.5(AKAP9):c.6945+8C>T
|
rs733957
|
0.40759
|
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)
|
rs1061305
|
0.40617
|
NM_000287.4(PEX6):c.399G>T (p.Val133=)
|
rs9462858
|
0.40569
|
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)
|
rs1044397
|
0.40553
|
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)
|
rs1044396
|
0.40465
|
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_000352.6(ABCC8):c.3819G>A (p.Arg1273=)
|
rs1799859
|
0.39734
|
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)
|
rs7413162
|
0.39681
|
NM_006950.3(SYN1):c.510T>C (p.Asn170=)
|
rs1142636
|
0.39391
|
NM_002294.3(LAMP2):c.156A>T (p.Val52=)
|
rs12097
|
0.39324
|
NM_004820.5(CYP7B1):c.122+19A>T
|
rs7842714
|
0.39118
|
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)
|
rs5956583
|
0.38953
|
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)
|
rs10941112
|
0.38660
|
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_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_015386.3(COG4):c.646C>T (p.Leu216=)
|
rs3762171
|
0.38086
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=)
|
rs730106
|
0.37791
|
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro)
|
rs1051152
|
0.37778
|
NM_000709.4(BCKDHA):c.995+26C>T
|
rs284653
|
0.37723
|
NM_000795.4(DRD2):c.957C>T (p.Pro319=)
|
rs6277
|
0.37659
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_000057.4(BLM):c.2555+7T>C
|
rs3815003
|
0.37072
|
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)
|
rs2252755
|
0.36980
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.36733
|
G6PD:c.1455-13T>C
|
rs2071429
|
0.36538
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.36505
|
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly)
|
rs10012
|
0.36324
|
NM_024809.5(TCTN2):c.1393+7C>T
|
rs7298440
|
0.36136
|
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_001267550.2(TTN):c.83323A>G (p.Ile27775Val)
|
rs3829746
|
0.35516
|
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr)
|
rs2760118
|
0.35507
|
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
|
rs9808377
|
0.35383
|
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser)
|
rs1056827
|
0.35167
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile)
|
rs2042996
|
0.34979
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)
|
rs4148211
|
0.34608
|
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)
|
rs1133330
|
0.34583
|
NM_002778.4(PSAP):c.1351-14A>G
|
rs4747203
|
0.34512
|
NM_000046.5(ARSB):c.1072G>A (p.Val358Met)
|
rs1065757
|
0.34419
|
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=)
|
rs6520618
|
0.34271
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=)
|
rs9806806
|
0.33435
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)
|
rs2293869
|
0.33006
|
NM_002693.3(POLG):c.3105-11T>C
|
rs2302084
|
0.32855
|
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val)
|
rs843358
|
0.32719
|
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)
|
rs1053315
|
0.32659
|
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)
|
rs197922
|
0.32616
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu)
|
rs4916685
|
0.32486
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)
|
rs1044498
|
0.32168
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
NM_022095.4(ZNF335):c.642C>T (p.Ser214=)
|
rs3848719
|
0.32130
|
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=)
|
rs3747563
|
0.32044
|
NM_198904.4(GABRG2):c.588C>T (p.Asn196=)
|
rs211037
|
0.31659
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_052845.4(MMAB):c.57C>A (p.Arg19=)
|
rs10774774
|
0.31358
|
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
|
rs6647
|
0.31278
|
NM_000231.3(SGCG):c.*254G>A
|
rs3751371
|
0.31172
|
NM_024006.4(VKORC1):c.-1639G>A
|
rs9923231
|
0.31157
|
NM_006765.4(TUSC3):c.309-6T>C
|
rs1035972
|
0.31124
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)
|
rs1054486
|
0.30800
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_001492.6(GDF1):c.353C>T (p.Ala118Val)
|
rs4808863
|
0.30267
|
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=)
|
rs35916068
|
0.30160
|
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)
|
rs16869042
|
0.30112
|
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=)
|
rs2857829
|
0.29968
|
NM_201384.3(PLEC):c.4045-4A>G
|
rs7002152
|
0.29962
|
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His)
|
rs6558407
|
0.29956
|
NM_201384.3(PLEC):c.3757-6A>G
|
rs11136333
|
0.29944
|
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=)
|
rs7016416
|
0.29943
|
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=)
|
rs3135109
|
0.29936
|
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln)
|
rs11136334
|
0.29922
|
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=)
|
rs55836855
|
0.29922
|
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=)
|
rs17038714
|
0.29915
|
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=)
|
rs11778026
|
0.29910
|
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val)
|
rs7002002
|
0.29901
|
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=)
|
rs11777402
|
0.29844
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu)
|
rs3747295
|
0.29823
|
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=)
|
rs56117011
|
0.29823
|
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=)
|
rs1140522
|
0.29794
|
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=)
|
rs6984820
|
0.29792
|
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)
|
rs2252748
|
0.29787
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=)
|
rs3747282
|
0.29345
|
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=)
|
rs11556200
|
0.29252
|
NM_201384.3(PLEC):c.1095T>C (p.Asp365=)
|
rs11783799
|
0.29245
|
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=)
|
rs55646585
|
0.29155
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
NM_006214.4(PHYH):c.636A>G (p.Thr212=)
|
rs473407
|
0.28866
|
NM_003839.4(TNFRSF11A):c.-9T>C
|
rs1805033
|
0.28610
|
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565
|
0.28594
|
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser)
|
rs869457
|
0.28273
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27837
|
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys)
|
rs10062026
|
0.27574
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)
|
rs1043424
|
0.27338
|
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)
|
rs3219489
|
0.26720
|
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321
|
0.26575
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
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_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)
|
rs3112831
|
0.25928
|
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu)
|
rs10957393
|
0.25907
|
NM_000552.5(VWF):c.2880G>A (p.Arg960=)
|
rs1800380
|
0.25897
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys)
|
rs1800497
|
0.25693
|
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)
|
rs3748361
|
0.25511
|
NM_198525.3(KIF7):c.3517+6C>T
|
rs74251725
|
0.25419
|
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)
|
rs1051338
|
0.25399
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_031433.4(MFRP):c.406G>A (p.Val136Met)
|
rs3814762
|
0.24523
|
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707
|
0.24238
|
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=)
|
rs17720698
|
0.24032
|
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met)
|
rs3731746
|
0.24029
|
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
|
rs16868972
|
0.23938
|
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu)
|
rs6234
|
0.23916
|
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile)
|
rs2303838
|
0.23912
|
NM_033337.3(CAV3):c.123T>C (p.Phe41=)
|
rs13087941
|
0.23875
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_024757.5(EHMT1):c.444T>C (p.Pro148=)
|
rs3812497
|
0.23632
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
NM_031433.4(MFRP):c.492C>T (p.Tyr164=)
|
rs36015759
|
0.23503
|
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)
|
rs1800136
|
0.23407
|
NM_001277115.2(DNAH11):c.5621+11A>T
|
rs59447021
|
0.23311
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)
|
rs1799977
|
0.23048
|
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825
|
0.22980
|
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr)
|
rs6235
|
0.22796
|
NM_000133.4(F9):c.580A>G (p.Thr194Ala)
|
rs6048
|
0.22614
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22492
|
NM_005120.3(MED12):c.736-8A>C
|
rs62609586
|
0.22423
|
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902
|
0.22262
|
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)
|
rs10240503
|
0.22240
|
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_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr)
|
rs12463674
|
0.21485
|
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)
|
rs446227
|
0.21425
|
NM_000404.4(GLB1):c.1233+8T>C
|
rs13093698
|
0.21250
|
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)
|
rs6720173
|
0.21159
|
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)
|
rs224222
|
0.20976
|
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val)
|
rs57326399
|
0.20797
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_001100.4(ACTA1):c.130-10G>C
|
rs41271481
|
0.20670
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20641
|
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg)
|
rs34967813
|
0.20632
|
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)
|
rs8179065
|
0.20556
|
NM_000769.1(CYP2C19):c.-806C>T
|
rs12248560
|
0.20441
|
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)
|
rs520805
|
0.20376
|
NM_014141.6(CNTNAP2):c.1777+10A>G
|
rs2286127
|
0.20355
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu)
|
rs3214045
|
0.20167
|
NM_005199.5(CHRNG):c.507-13C>T
|
rs2853462
|
0.20012
|
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_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_001130987.2(DYSF):c.6321+15C>T
|
rs2559082
|
0.19470
|
NM_000027.4(AGA):c.281+13T>G
|
rs34241758
|
0.19395
|
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)
|
rs2071133
|
0.19260
|
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_000110.4(DPYD):c.1627A>G (p.Ile543Val)
|
rs1801159
|
0.18679
|
CYP2D6*10
|
rs1065852
|
0.18675
|
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
|
rs11558179
|
0.18595
|
NM_170784.3(MKKS):c.117C>T (p.Pro39=)
|
rs16991547
|
0.18435
|
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=)
|
rs1063125
|
0.18359
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_014141.6(CNTNAP2):c.3248-4A>G
|
rs3779031
|
0.18203
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_000240.4(MAOA):c.385A>C (p.Arg129=)
|
rs1800464
|
0.17743
|
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)
|
rs72646967
|
0.17704
|
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser)
|
rs665278
|
0.17617
|
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)
|
rs2228528
|
0.17598
|
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_000057.4(BLM):c.3102G>A (p.Thr1034=)
|
rs2227933
|
0.17570
|
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=)
|
rs2565061
|
0.17492
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)
|
rs34592169
|
0.17471
|
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=)
|
rs1045874
|
0.17452
|
NM_005045.4(RELN):c.10074A>G (p.Ala3358=)
|
rs1062831
|
0.17444
|
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)
|
rs3810950
|
0.17408
|
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro)
|
rs8075
|
0.17369
|
NM_001123385.2(BCOR):c.4977-4G>T
|
rs5963725
|
0.16998
|
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)
|
rs73066479
|
0.16867
|
NM_000335.5(SCN5A):c.1141-3C>A
|
rs41312433
|
0.16821
|
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile)
|
rs17720303
|
0.16644
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile)
|
rs2472553
|
0.16614
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)
|
rs11549708
|
0.16388
|
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)
|
rs2228500
|
0.16379
|
NM_000455.5(STK11):c.920+7G>C
|
rs2075607
|
0.16357
|
NM_018136.5(ASPM):c.2174-20T>C
|
rs4915344
|
0.16253
|
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)
|
rs1799858
|
0.16150
|
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=)
|
rs4244285
|
0.16148
|
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
|
rs429358
|
0.16059
|
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=)
|
rs2071134
|
0.15977
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)
|
rs2230028
|
0.15795
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=)
|
rs190796582
|
0.15534
|
NM_000057.4(BLM):c.3945C>T (p.Leu1315=)
|
rs1063147
|
0.15526
|
NM_000057.4(BLM):c.3531C>A (p.Ala1177=)
|
rs2227934
|
0.15517
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_000552.5(VWF):c.954T>A (p.Asn318Lys)
|
rs1800387
|
0.15296
|
NM_000231.3(SGCG):c.228T>C (p.Asp76=)
|
rs1800350
|
0.15152
|
NM_001130987.2(DYSF):c.1276+11C>T
|
rs35982795
|
0.15096
|
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)
|
rs28938169
|
0.15001
|
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=)
|
rs1129767
|
0.14787
|
NM_201384.3(PLEC):c.3757-9A>G
|
rs57461687
|
0.14687
|
NM_182961.4(SYNE1):c.17745C>T (p.His5915=)
|
rs12664753
|
0.14557
|
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
|
rs2234962
|
0.14532
|
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)
|
rs36094464
|
0.14530
|
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)
|
rs6652
|
0.14487
|
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)
|
rs3731749
|
0.14445
|
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
|
rs34603128
|
0.14353
|
CYP2D6*4
|
rs3892097
|
0.14340
|
NM_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14330
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)
|
rs1545
|
0.14147
|
NM_024757.5(EHMT1):c.3375-9A>C
|
rs73578877
|
0.14146
|
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)
|
rs16025
|
0.14118
|
NM_170784.3(MKKS):c.534C>T (p.Ile178=)
|
rs17852625
|
0.14082
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
NM_139343.3(BIN1):c.957C>T (p.Ala319=)
|
rs2276579
|
0.13837
|
NM_001130987.2(DYSF):c.888+11T>C
|
rs13428076
|
0.13574
|
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)
|
rs11090865
|
0.13476
|
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His)
|
rs2288569
|
0.13356
|
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023
|
0.13336
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=)
|
rs3798756
|
0.13297
|
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)
|
rs3829747
|
0.13294
|
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys)
|
rs744426
|
0.13213
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=)
|
rs7049300
|
0.13090
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)
|
rs10805890
|
0.12644
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr)
|
rs2235491
|
0.12316
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_054012.4(ASS1):c.501C>T (p.His167=)
|
rs10901072
|
0.12154
|
NM_001079802.2(FKTN):c.*2280T>C
|
rs1024366
|
0.12115
|
NM_133433.4(NIPBL):c.3575-17A>G
|
rs78827246
|
0.12109
|
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)
|
rs4149056
|
0.12106
|
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)
|
rs1800440
|
0.11965
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)
|
rs1065758
|
0.11920
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
NM_001849.4(COL6A2):c.1609-10C>T
|
rs17357592
|
0.11879
|
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022
|
0.11855
|
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)
|
rs709932
|
0.11804
|
NM_002335.4(LRP5):c.2220C>T (p.Asn740=)
|
rs2306862
|
0.11683
|
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)
|
rs55666134
|
0.11626
|
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=)
|
rs7691
|
0.11555
|
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)
|
rs747122
|
0.11550
|
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=)
|
rs4925112
|
0.11504
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)
|
rs12926089
|
0.11417
|
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys)
|
rs2742347
|
0.11354
|
NM_001164508.2(NEB):c.11077-4G>T
|
rs878924060
|
0.11336
|
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser)
|
rs17343819
|
0.11318
|
NM_014324.6(AMACR):c.717G>T (p.Gln239His)
|
rs34677
|
0.11264
|
NM_003859.3(DPM1):c.679-7A>T
|
rs60224379
|
0.11090
|
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)
|
rs2272946
|
0.11020
|
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=)
|
rs11000009
|
0.10990
|
NM_198586.3(NHLRC1):c.312T>C (p.His104=)
|
rs115931931
|
0.10897
|
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
NM_006416.5(SLC35A1):c.887-14T>C
|
rs56136150
|
0.10768
|
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)
|
rs3736228
|
0.10701
|
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)
|
rs472294
|
0.10691
|
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)
|
rs1801725
|
0.10682
|
NM_014141.6(CNTNAP2):c.2256-6A>T
|
rs10240482
|
0.10641
|
NM_001370259.2(MEN1):c.1621= (p.Thr541=)
|
rs2959656
|
0.10623
|
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=)
|
rs2646265
|
0.10608
|
NM_012210.4(TRIM32):c.1254G>A (p.Val418=)
|
rs1661300
|
0.10569
|
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr)
|
rs755793
|
0.10553
|
NM_000383.4(AIRE):c.1095+6G>A
|
rs1800525
|
0.10544
|
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=)
|
rs35943616
|
0.10540
|
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=)
|
rs2646258
|
0.10531
|
NM_002024.6(FMR1):c.414G>A (p.Arg138=)
|
rs25707
|
0.10515
|
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)
|
rs2229385
|
0.10476
|
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys)
|
rs16866538
|
0.10360
|
NM_000113.3(TOR1A):c.646G>C (p.Asp216His)
|
rs1801968
|
0.10301
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
NM_006059.4(LAMC3):c.75C>T (p.Cys25=)
|
rs13286358
|
0.10217
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_005045.4(RELN):c.2989C>G (p.Leu997Val)
|
rs362691
|
0.10133
|
NM_000512.5(GALNS):c.199C>A (p.Leu67Met)
|
rs11862754
|
0.10099
|
NM_004369.4(COL6A3):c.9213C>T (p.His3071=)
|
rs2270671
|
0.10029
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys)
|
rs2234926
|
0.09970
|
NM_001130987.2(DYSF):c.951+4T>C
|
rs11903960
|
0.09951
|
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg)
|
rs9905402
|
0.09880
|
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)
|
rs62415828
|
0.09865
|
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val)
|
rs17403955
|
0.09853
|
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp)
|
rs62415827
|
0.09842
|
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly)
|
rs62415826
|
0.09832
|
NM_000492.4(CFTR):c.1210-13G>T
|
rs10229820
|
0.09791
|
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=)
|
rs34644439
|
0.09690
|
NM_001378615.1(CC2D2A):c.2003+19C>T
|
rs17476642
|
0.09677
|
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly)
|
rs3729989
|
0.09621
|
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)
|
rs1801496
|
0.09551
|
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)
|
rs1801688
|
0.09526
|
NM_000350.3(ABCA4):c.1269C>T (p.His423=)
|
rs4147831
|
0.09402
|
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=)
|
rs35686634
|
0.09361
|
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)
|
rs10197596
|
0.09320
|
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)
|
rs7833870
|
0.09284
|
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)
|
rs10208525
|
0.09281
|
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)
|
rs1801687
|
0.09261
|
NM_001367721.1(CASK):c.1034-6C>T
|
rs73470569
|
0.09241
|
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=)
|
rs2291306
|
0.09235
|
NM_001849.4(COL6A2):c.1735-30A>G
|
rs73382466
|
0.09173
|
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)
|
rs2306942
|
0.09135
|
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met)
|
rs6569336
|
0.09024
|
CYP2C9*2
|
rs1799853
|
0.08975
|
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=)
|
rs72648978
|
0.08958
|
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)
|
rs35836657
|
0.08930
|
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr)
|
rs9944035
|
0.08879
|
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu)
|
rs61752479
|
0.08857
|
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg)
|
rs2792205
|
0.08782
|
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter)
|
rs2781377
|
0.08740
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_153033.5(KCTD7):c.267G>A (p.Thr89=)
|
rs3764904
|
0.08655
|
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=)
|
rs11998271
|
0.08588
|
NM_004985.5(KRAS):c.451-9G>A
|
rs12313763
|
0.08467
|
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=)
|
rs79893125
|
0.08466
|
NM_033337.3(CAV3):c.27C>T (p.Leu9=)
|
rs1974763
|
0.08452
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_006158.5(NEFL):c.1170-13T>C
|
rs76347846
|
0.08329
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
NM_003919.3(SGCE):c.391-3T>C
|
rs17166384
|
0.08209
|
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)
|
rs35548026
|
0.08193
|
NM_000426.4(LAMA2):c.4523+19C>T
|
rs17057158
|
0.08168
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
NM_000110.4(DPYD):c.496A>G (p.Met166Val)
|
rs2297595
|
0.08071
|
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)
|
rs11677877
|
0.08050
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.08017
|
NM_000041.2(APOE):c.526C>T (p.Arg176Cys)
|
rs7412
|
0.07986
|
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)
|
rs1266787
|
0.07947
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_000466.3(PEX1):c.-53C>G
|
rs12386703
|
0.07798
|
NM_000553.6(WRN):c.340G>A (p.Val114Ile)
|
rs2230009
|
0.07797
|
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile)
|
rs35027700
|
0.07759
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
NM_000748.3(CHRNB2):c.1338+14G>T
|
rs4845378
|
0.07732
|
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)
|
rs1800401
|
0.07659
|
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser)
|
rs9878928
|
0.07568
|
NM_001363.5(DKC1):c.1461C>T (p.Ala487=)
|
rs1127051
|
0.07549
|
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
NM_000137.4(FAH):c.267G>C (p.Leu89=)
|
rs33929922
|
0.07529
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07445
|
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=)
|
rs2076697
|
0.07398
|
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)
|
rs17029215
|
0.07361
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=)
|
rs11991764
|
0.07344
|
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)
|
rs11690358
|
0.07295
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser)
|
rs34544747
|
0.07202
|
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=)
|
rs45450992
|
0.07198
|
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)
|
rs61753724
|
0.07191
|
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)
|
rs184087864
|
0.07175
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=)
|
rs17144747
|
0.07116
|
NM_147127.5(EVC2):c.-15G>A
|
rs76269601
|
0.07112
|
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=)
|
rs28455570
|
0.07092
|
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn)
|
rs28385621
|
0.07062
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
NM_020365.5(EIF2B3):c.149-4A>G
|
rs72887005
|
0.06955
|
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)
|
rs28711516
|
0.06950
|
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)
|
rs17849848
|
0.06910
|
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=)
|
rs61729844
|
0.06907
|
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=)
|
rs34558385
|
0.06903
|
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys)
|
rs6756629
|
0.06901
|
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=)
|
rs11683438
|
0.06890
|
NM_032119.4(ADGRV1):c.8730+10_8730+11insC
|
rs377585302
|
0.06843
|
NM_006005.3(WFS1):c.2322G>A (p.Lys774=)
|
rs2230721
|
0.06809
|
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)
|
rs112562759
|
0.06801
|
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)
|
rs3737821
|
0.06797
|
NM_001365536.1(SCN9A):c.3802-4A>G
|
rs75230218
|
0.06754
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
CYP2D6*41
|
rs28371725
|
0.06736
|
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=)
|
rs13324293
|
0.06728
|
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=)
|
rs10084221
|
0.06701
|
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)
|
rs10201909
|
0.06660
|
NM_183050.4(BCKDHB):c.344-24C>T
|
rs73479953
|
0.06567
|
NM_022437.3(ABCG8):c.55G>C (p.Asp19His)
|
rs11887534
|
0.06566
|
NM_000169.3(GLA):c.-12G>A
|
rs3027585
|
0.06554
|
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys)
|
rs17853192
|
0.06550
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=)
|
rs62642470
|
0.06519
|
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)
|
rs150688899
|
0.06491
|
NM_002206.3(ITGA7):c.415-10C>T
|
rs11171661
|
0.06475
|
NM_001130987.2(DYSF):c.1038C>T (p.His346=)
|
rs36122356
|
0.06463
|
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=)
|
rs61741754
|
0.06453
|
NM_000169.3(GLA):c.-10C>T
|
rs2071225
|
0.06441
|
NM_021728.4(OTX2):c.*10G>A
|
rs171978
|
0.06420
|
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)
|
rs1801591
|
0.06414
|
NM_000335.5(SCN5A):c.274-24C>T
|
rs7627488
|
0.06378
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_000381.4(MID1):c.1230C>T (p.Ser410=)
|
rs16986145
|
0.06185
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
NM_001927.4(DES):c.578+11G>A
|
rs111548596
|
0.06130
|
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser)
|
rs3766871
|
0.06110
|
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)
|
rs10164753
|
0.06031
|
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=)
|
rs111557381
|
0.06017
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06016
|
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=)
|
rs79739740
|
0.05992
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)
|
rs3827760
|
0.05968
|
NM_005045.4(RELN):c.6702T>C (p.Cys2234=)
|
rs2075043
|
0.05938
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
NM_002206.3(ITGA7):c.810G>A (p.Gly270=)
|
rs3847675
|
0.05834
|
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=)
|
rs11988293
|
0.05812
|
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=)
|
rs62642469
|
0.05798
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)
|
rs1800314
|
0.05752
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=)
|
rs34803322
|
0.05741
|
NM_000552.5(VWF):c.2220G>A (p.Met740Ile)
|
rs2228317
|
0.05696
|
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val)
|
rs3888798
|
0.05696
|
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)
|
rs2229738
|
0.05682
|
NM_002458.3(MUC5B):c.15861A>G (p.Pro5287=)
|
rs56344012
|
0.05669
|
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn)
|
rs11888217
|
0.05644
|
NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp)
|
rs11042836
|
0.05626
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.05626
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_001849.4(COL6A2):c.1970-23G>C
|
rs78764604
|
0.05599
|
NM_013382.7(POMT2):c.162G>T (p.Ala54=)
|
rs2270420
|
0.05519
|
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)
|
rs1064822
|
0.05512
|
NM_001379110.1(SLC9A6):c.1306+8G>A
|
rs6654310
|
0.05510
|
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)
|
rs79241126
|
0.05477
|
NM_000231.3(SGCG):c.*13C>T
|
rs9510701
|
0.05421
|
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=)
|
rs76336581
|
0.05399
|
NM_025114.4(CEP290):c.5709+18C>A
|
rs7973969
|
0.05367
|
NM_052845.4(MMAB):c.135-23T>C
|
rs66580225
|
0.05340
|
NM_025114.4(CEP290):c.442-19T>A
|
rs113132803
|
0.05334
|
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)
|
rs17593
|
0.05293
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val)
|
rs35858667
|
0.05256
|
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=)
|
rs35139934
|
0.05241
|
NM_000016.6(ACADM):c.351A>C (p.Thr117=)
|
rs74090726
|
0.05204
|
NM_000283.4(PDE6B):c.915G>A (p.Thr305=)
|
rs75695239
|
0.05186
|
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)
|
rs73826339
|
0.05158
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_001848.3(COL6A1):c.1002+37A>G
|
rs11702174
|
0.05111
|
NM_207352.4(CYP4V2):c.327+11G>C
|
rs62350517
|
0.05079
|
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His)
|
rs34268261
|
0.05068
|
NM_006005.3(WFS1):c.1367G>A (p.Arg456His)
|
rs1801208
|
0.04977
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln)
|
rs17679445
|
0.04944
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln)
|
rs1800407
|
0.04917
|
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=)
|
rs7868455
|
0.04901
|
CYP2C9*3
|
rs1057910
|
0.04900
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile)
|
rs56142888
|
0.04798
|
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)
|
rs3219484
|
0.04794
|
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys)
|
rs1130183
|
0.04770
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=)
|
rs146811565
|
0.04735
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_032638.5(GATA2):c.564G>C (p.Thr188=)
|
rs34870876
|
0.04681
|
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=)
|
rs112173070
|
0.04668
|
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_000070.3(CAPN3):c.2380+12del
|
rs28364538
|
0.04623
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_001244008.2(KIF1A):c.4319-8C>T
|
rs1529663
|
0.04602
|
NM_057176.3(BSND):c.127G>A (p.Val43Ile)
|
rs34561376
|
0.04587
|
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=)
|
rs75833626
|
0.04561
|
NM_173660.5(DOK7):c.753G>A (p.Ala251=)
|
rs59932476
|
0.04559
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)
|
rs113937803
|
0.04541
|
NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=)
|
rs61753881
|
0.04533
|
NM_005045.4(RELN):c.8136A>G (p.Leu2712=)
|
rs3808039
|
0.04529
|
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met)
|
rs113831133
|
0.04508
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
NM_024757.5(EHMT1):c.129A>T (p.Ala43=)
|
rs76684726
|
0.04476
|
NM_000367.5(TPMT):c.719A>G (p.Tyr240Cys)
|
rs1142345
|
0.04459
|
NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu)
|
rs143090627
|
0.04452
|
NM_000277.3(PAH):c.1278T>C (p.Asn426=)
|
rs59326968
|
0.04425
|
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
|
rs1800315
|
0.04402
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)
|
rs58022607
|
0.04393
|
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=)
|
rs58465962
|
0.04390
|
NM_000492.4(CFTR):c.-8G>C
|
rs1800501
|
0.04368
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)
|
rs34671418
|
0.04349
|
NM_001164508.2(NEB):c.20467-4T>A
|
rs199791504
|
0.04348
|
NM_001130987.2(DYSF):c.3575-17C>T
|
rs13421969
|
0.04340
|
NM_000601.6(HGF):c.910G>A (p.Glu304Lys)
|
rs5745687
|
0.04328
|
NM_013382.7(POMT2):c.1891+49C>T
|
rs61990292
|
0.04323
|
NM_000942.4(PPIB):c.-171C>T
|
rs112481305
|
0.04313
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04292
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
NM_004977.3(KCNC3):c.123G>T (p.Gln41His)
|
rs185017345
|
0.04227
|
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)
|
rs41309927
|
0.04225
|
NM_052845.4(MMAB):c.288T>C (p.Ile96=)
|
rs62000414
|
0.04206
|
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=)
|
rs35959206
|
0.04188
|
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val)
|
rs77469944
|
0.04185
|
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=)
|
rs74032864
|
0.04134
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_033343.4(LHX4):c.450C>T (p.Asn150=)
|
rs16855642
|
0.04109
|
NM_001256789.3(CACNA1F):c.2673+3G>A
|
rs41312124
|
0.04106
|
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=)
|
rs16916221
|
0.04084
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_005045.4(RELN):c.1596G>A (p.Gln532=)
|
rs41276154
|
0.04078
|
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)
|
rs72648998
|
0.04075
|
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn)
|
rs3813243
|
0.04071
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
NM_000487.6(ARSA):c.1149C>T (p.Asp383=)
|
rs6151425
|
0.04013
|
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro)
|
rs2234256
|
0.04010
|
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)
|
rs2274976
|
0.03996
|
NM_198525.3(KIF7):c.-5T>G
|
rs62021460
|
0.03972
|
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=)
|
rs75586449
|
0.03960
|
NM_139343.3(BIN1):c.894G>A (p.Ser298=)
|
rs2228955
|
0.03955
|
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)
|
rs16892095
|
0.03933
|
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)
|
rs3731752
|
0.03923
|
NM_002230.4(JUP):c.425G>A (p.Arg142His)
|
rs41283425
|
0.03910
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
NM_001035.3(RYR2):c.13564-41A>G
|
rs114289907
|
0.03849
|
NM_001165963.4(SCN1A):c.2176+17A>G
|
rs59251406
|
0.03846
|
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)
|
rs41281334
|
0.03832
|
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=)
|
rs16947296
|
0.03818
|
NM_005422.4(TECTA):c.624+11C>G
|
rs73599492
|
0.03810
|
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile)
|
rs1801160
|
0.03794
|
NM_020975.6(RET):c.2508C>T (p.Ser836=)
|
rs1800862
|
0.03791
|
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)
|
rs36031496
|
0.03789
|
NM_005045.4(RELN):c.8508C>T (p.Phe2836=)
|
rs2229862
|
0.03751
|
NM_201384.3(PLEC):c.718+10C>T
|
rs12545876
|
0.03717
|
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His)
|
rs62642465
|
0.03714
|
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=)
|
rs1049800
|
0.03703
|
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
|
rs16866412
|
0.03700
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val)
|
rs74772299
|
0.03697
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr)
|
rs58836306
|
0.03656
|
NM_006493.4(CLN5):c.173+8C>T
|
rs9565308
|
0.03653
|
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
|
rs9014
|
0.03641
|
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys)
|
rs73038324
|
0.03639
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=)
|
rs2286128
|
0.03626
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_152564.5(VPS13B):c.3667-7C>T
|
rs35543295
|
0.03607
|
NM_000433.4(NCF2):c.1167C>A (p.His389Gln)
|
rs17849502
|
0.03605
|
NM_002474.3(MYH11):c.5172-14C>T
|
rs34839877
|
0.03595
|
NM_000541.5(SAG):c.375+11C>T
|
rs74356516
|
0.03568
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03565
|
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile)
|
rs2233070
|
0.03565
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
NM_144997.7(FLCN):c.1233G>A (p.Glu411=)
|
rs61750032
|
0.03557
|
NM_133642.5(LARGE1):c.1731-24T>C
|
rs73399532
|
0.03540
|
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)
|
rs34598902
|
0.03505
|
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=)
|
rs12014412
|
0.03486
|
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030
|
0.03470
|
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu)
|
rs28934585
|
0.03462
|
NM_017775.3(TTC19):c.-347C>A
|
rs60636875
|
0.03461
|
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys)
|
rs16868974
|
0.03455
|
NM_001130987.2(DYSF):c.460+17G>C
|
rs115170960
|
0.03446
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
NM_002206.3(ITGA7):c.824G>A (p.Arg275His)
|
rs74867235
|
0.03438
|
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)
|
rs16978875
|
0.03433
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
NM_001287.6(CLCN7):c.900G>A (p.Ala300=)
|
rs41286695
|
0.03405
|
NM_000071.3(CBS):c.317-46G>C
|
rs75873792
|
0.03396
|
NM_152419.3(HGSNAT):c.493+46G>T
|
rs72647302
|
0.03382
|
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)
|
rs2230036
|
0.03373
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)
|
rs34006675
|
0.03359
|
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)
|
rs35898499
|
0.03355
|
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr)
|
rs45598239
|
0.03352
|
NM_001130987.2(DYSF):c.951+39T>C
|
rs74384941
|
0.03312
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln)
|
rs2066518
|
0.03294
|
NM_000070.3(CAPN3):c.1029+3A>G
|
rs28364442
|
0.03285
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=)
|
rs74852641
|
0.03265
|
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)
|
rs35392229
|
0.03244
|
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser)
|
rs45584033
|
0.03229
|
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala)
|
rs36096184
|
0.03219
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp)
|
rs6232
|
0.03201
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)
|
rs56142141
|
0.03191
|
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)
|
rs41265017
|
0.03176
|
NM_000142.5(FGFR3):c.588C>T (p.Arg196=)
|
rs2305180
|
0.03125
|
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu)
|
rs8177536
|
0.03119
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)
|
rs398124605
|
0.03116
|
NM_000540.3(RYR1):c.2871-5C>T
|
rs45585535
|
0.03110
|
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)
|
rs79691946
|
0.03108
|
NM_022039.4(FBXW4):c.534C>G (p.Ala178=)
|
rs61761937
|
0.03084
|
NM_020751.3(COG6):c.1693-6A>T
|
rs78336861
|
0.03077
|
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn)
|
rs1132036
|
0.03072
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_001918.5(DBT):c.1281+31T>G
|
rs115696850
|
0.03046
|
NM_144672.4(OTOA):c.2229C>T (p.Ala743=)
|
rs461179
|
0.03046
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03031
|
NM_001130987.2(DYSF):c.1577-1635C>G
|
rs76402294
|
0.03029
|
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=)
|
rs61741123
|
0.03029
|
NM_031433.4(MFRP):c.770G>A (p.Arg257His)
|
rs61736238
|
0.03023
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_014009.4(FOXP3):c.543C>T (p.Ser181=)
|
rs2232367
|
0.03006
|
NM_001848.3(COL6A1):c.2435-19C>T
|
rs115181427
|
0.03003
|
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val)
|
rs75792246
|
0.02993
|
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)
|
rs1800278
|
0.02976
|
NM_153240.5(NPHP3):c.2571-7T>C
|
rs62292468
|
0.02974
|
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=)
|
rs11882640
|
0.02972
|
NM_018006.5(TRMU):c.10T>G (p.Leu4Val)
|
rs114302881
|
0.02970
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val)
|
rs11628107
|
0.02936
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_000096.4(CP):c.2554+17G>A
|
rs35593818
|
0.02896
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val)
|
rs2230720
|
0.02889
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
0.02876
|
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)
|
rs41305353
|
0.02876
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_182894.3(VSX2):c.831G>A (p.Leu277=)
|
rs62006815
|
0.02860
|
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=)
|
rs61735853
|
0.02858
|
NM_004183.4(BEST1):c.1023C>T (p.Pro341=)
|
rs1801390
|
0.02837
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)
|
rs28933977
|
0.02826
|
NM_001122630.2(CDKN1C):c.-11+60G>A
|
rs143992355
|
0.02792
|
NC_000023.11:g.136648058A>C
|
rs36206512
|
0.02791
|
NM_020451.3(SELENON):c.981C>T (p.Arg327=)
|
rs147587542
|
0.02788
|
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
NM_194248.3(OTOF):c.158C>T (p.Ala53Val)
|
rs1879761
|
0.02762
|
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)
|
rs29281
|
0.02758
|
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly)
|
rs3750904
|
0.02756
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His)
|
rs36092870
|
0.02734
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
|
rs33958626
|
0.02731
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
NM_006765.4(TUSC3):c.912G>A (p.Ser304=)
|
rs17121892
|
0.02710
|
NM_001848.3(COL6A1):c.1823-31C>T
|
rs117330552
|
0.02707
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_002294.3(LAMP2):c.927C>T (p.Ser309=)
|
rs73219144
|
0.02702
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02697
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn)
|
rs35881321
|
0.02685
|
NM_000106.6(CYP2D6):c.1012G>A (p.Val338Met)
|
rs59421388
|
0.02682
|
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=)
|
rs61729843
|
0.02678
|
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu)
|
rs2295418
|
0.02669
|
NM_004369.4(COL6A3):c.882C>T (p.Phe294=)
|
rs7561625
|
0.02665
|
NM_000367.5(TPMT):c.460G>A (p.Ala154Thr)
|
rs1800460
|
0.02661
|
NM_213599.3(ANO5):c.2521-13A>G
|
rs76850415
|
0.02660
|
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala)
|
rs115066356
|
0.02657
|
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)
|
rs17103671
|
0.02649
|
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg)
|
rs79399438
|
0.02648
|
NM_018451.5(CPAP):c.163C>G (p.Pro55Ala)
|
rs17081389
|
0.02639
|
NM_004369.4(COL6A3):c.1313-17A>G
|
rs7579816
|
0.02624
|
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn)
|
rs2229109
|
0.02618
|
NM_000618.5(IGF1):c.*263T>A
|
rs70961704
|
0.02615
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro)
|
rs28932179
|
0.02602
|
NM_000554.6(CRX):c.472G>A (p.Ala158Thr)
|
rs61748445
|
0.02598
|
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)
|
rs8187801
|
0.02594
|
NM_007254.4(PNKP):c.1189-10del
|
rs3739205
|
0.02593
|
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr)
|
rs61729471
|
0.02583
|
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)
|
rs77293072
|
0.02574
|
NM_004006.3(DMD):c.2623-11C>G
|
rs1028360
|
0.02567
|
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=)
|
rs117054456
|
0.02550
|
NM_020223.4(FAM20C):c.1652G>A (p.Arg551His)
|
rs150231592
|
0.02546
|
NM_001035.3(RYR2):c.8437-7dup
|
rs148246251
|
0.02544
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
NM_001323289.2(CDKL5):c.555-19C>G
|
rs75057928
|
0.02527
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02522
|
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu)
|
rs3765310
|
0.02518
|
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=)
|
rs55776396
|
0.02513
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)
|
rs34717730
|
0.02506
|
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)
|
rs114234874
|
0.02502
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_000214.3(JAG1):c.270G>T (p.Gly90=)
|
rs114048678
|
0.02490
|
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)
|
rs34836829
|
0.02488
|
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=)
|
rs140406501
|
0.02486
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr)
|
rs1805021
|
0.02481
|
NM_006208.3(ENPP1):c.-10C>T
|
rs750410843
|
0.02463
|
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro)
|
rs80132640
|
0.02449
|
NM_001130987.2(DYSF):c.4222-20G>A
|
rs111935215
|
0.02442
|
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)
|
rs11539201
|
0.02438
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)
|
rs61884288
|
0.02435
|
NM_000441.2(SLC26A4):c.1708-18T>A
|
rs55701254
|
0.02432
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=)
|
rs77214077
|
0.02424
|
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln)
|
rs55865069
|
0.02422
|
NM_003839.4(TNFRSF11A):c.75+5G>A
|
rs146553439
|
0.02406
|
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=)
|
rs11905235
|
0.02405
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp)
|
rs7800847
|
0.02403
|
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser)
|
rs112028242
|
0.02391
|
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly)
|
rs1805020
|
0.02391
|
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu)
|
rs111033183
|
0.02384
|
NM_003383.5(VLDLR):c.24G>A (p.Ala8=)
|
rs34336270
|
0.02372
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)
|
rs10040427
|
0.02340
|
NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser)
|
rs7190372
|
0.02335
|
NM_133642.5(LARGE1):c.576C>T (p.Pro192=)
|
rs36002910
|
0.02334
|
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)
|
rs41311343
|
0.02332
|
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg)
|
rs79134187
|
0.02323
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=)
|
rs117560775
|
0.02306
|
NM_145861.4(EDARADD):c.60G>A (p.Glu20=)
|
rs60808129
|
0.02304
|
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=)
|
rs12373107
|
0.02286
|
NM_000142.5(FGFR3):c.615+8C>G
|
rs17878375
|
0.02283
|
NM_002834.5(PTPN11):c.255C>T (p.His85=)
|
rs61736914
|
0.02271
|
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg)
|
rs3812951
|
0.02265
|
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile)
|
rs76889468
|
0.02262
|
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=)
|
rs35021937
|
0.02251
|
NM_024312.5(GNPTAB):c.1612+28T>C
|
rs74389509
|
0.02246
|
NM_024312.5(GNPTAB):c.3693+10A>T
|
rs76021817
|
0.02246
|
NM_025136.4(OPA3):c.-38A>G
|
rs45527139
|
0.02241
|
NM_015340.4(LARS2):c.972C>A (p.His324Gln)
|
rs71645922
|
0.02237
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02232
|
NC_000002.12:g.178535859A>G
|
rs202214630
|
0.02222
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_198525.3(KIF7):c.1444-4A>G
|
rs112333674
|
0.02204
|
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)
|
rs11913417
|
0.02196
|
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)
|
rs2229420
|
0.02193
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr)
|
rs78247455
|
0.02182
|
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr)
|
rs17825668
|
0.02180
|
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly)
|
rs79514677
|
0.02177
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_030665.4(RAI1):c.264G>A (p.Gln88=)
|
rs61999281
|
0.02170
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=)
|
rs45613041
|
0.02154
|
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)
|
rs11910483
|
0.02152
|
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu)
|
rs3810948
|
0.02150
|
NM_000540.3(RYR1):c.11908-14A>G
|
rs2292799
|
0.02149
|
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)
|
rs4802584
|
0.02143
|
NM_000540.3(RYR1):c.11260-19T>G
|
rs4802583
|
0.02140
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=)
|
rs34340053
|
0.02105
|
NM_020433.5(JPH2):c.1289-7C>T
|
rs116986535
|
0.02105
|
NM_133433.4(NIPBL):c.4561-9T>A
|
rs79924167
|
0.02103
|
NM_000144.5(FXN):c.-7G>A
|
rs145006100
|
0.02101
|
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)
|
rs16050
|
0.02098
|
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)
|
rs41277797
|
0.02093
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
|
rs16990264
|
0.02084
|
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)
|
rs2303607
|
0.02075
|
NM_001849.4(COL6A2):c.116-34G>A
|
rs117154313
|
0.02070
|
NM_002206.3(ITGA7):c.2433-5G>A
|
rs79745402
|
0.02069
|
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)
|
rs61750129
|
0.02065
|
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)
|
rs13879
|
0.02053
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
NM_002890.3(RASA1):c.296C>T (p.Ala99Val)
|
rs111840875
|
0.02050
|
NM_006059.4(LAMC3):c.92G>T (p.Arg31Leu)
|
rs116259120
|
0.02047
|
NM_000180.4(GUCY2D):c.3225-7C>T
|
rs79887212
|
0.02045
|
NM_013382.7(POMT2):c.1007-32G>A
|
rs79509556
|
0.02044
|
NM_005045.4(RELN):c.26A>C (p.Gln9Pro)
|
rs115165703
|
0.02037
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser)
|
rs34934127
|
0.02035
|
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=)
|
rs142351773
|
0.02033
|
NM_001165963.4(SCN1A):c.1662+9C>A
|
rs7559148
|
0.02030
|
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)
|
rs41312104
|
0.02014
|
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)
|
rs3731249
|
0.02007
|
NM_000179.3(MSH6):c.2253T>C (p.Asn751=)
|
rs2020913
|
0.02003
|
NM_001035.3(RYR2):c.11557+19C>T
|
rs113408406
|
0.01994
|
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His)
|
rs3813245
|
0.01993
|
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala)
|
rs56018860
|
0.01992
|
NM_001267550.2(TTN):c.91852+8T>A
|
rs56145100
|
0.01992
|
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)
|
rs3731745
|
0.01991
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01991
|
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser)
|
rs3813246
|
0.01989
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01985
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01984
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=)
|
rs10404506
|
0.01970
|
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)
|
rs2960319
|
0.01964
|
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp)
|
rs2032892
|
0.01962
|
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)
|
rs35902696
|
0.01962
|
NM_006915.3(RP2):c.844C>T (p.Arg282Trp)
|
rs1805147
|
0.01957
|
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)
|
rs72648950
|
0.01956
|
NM_000154.2(GALK1):c.611+34G>A
|
rs76743658
|
0.01955
|
NM_000237.3(LPL):c.106G>A (p.Asp36Asn)
|
rs1801177
|
0.01951
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)
|
rs117781224
|
0.01941
|
NM_000138.5(FBN1):c.1960+30G>A
|
rs25459
|
0.01932
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)
|
rs309369
|
0.01932
|
NM_005045.4(RELN):c.7110T>C (p.Val2370=)
|
rs362746
|
0.01926
|
NM_001100.4(ACTA1):c.996C>A (p.Ile332=)
|
rs74897770
|
0.01920
|
NM_133642.5(LARGE1):c.309C>T (p.Ser103=)
|
rs59349720
|
0.01920
|
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=)
|
rs75060573
|
0.01901
|
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)
|
rs75909145
|
0.01900
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met)
|
rs36064831
|
0.01896
|
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu)
|
rs111230322
|
0.01893
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
NM_153252.5(BRWD3):c.813+10G>C
|
rs55824836
|
0.01875
|
NM_194318.4(B3GLCT):c.271-12T>C
|
rs117111131
|
0.01874
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000168.6(GLI3):c.2835G>C (p.Leu945=)
|
rs61758978
|
0.01858
|
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)
|
rs73399520
|
0.01853
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=)
|
rs2303298
|
0.01844
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=)
|
rs35993209
|
0.01827
|
NM_000100.4(CSTB):c.15G>T (p.Ala5=)
|
rs4533
|
0.01826
|
NM_153240.5(NPHP3):c.864T>A (p.Thr288=)
|
rs147932449
|
0.01825
|
NM_004369.4(COL6A3):c.3071-16G>A
|
rs73998896
|
0.01822
|
NM_004369.4(COL6A3):c.7668+21G>C
|
rs11897148
|
0.01818
|
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=)
|
rs35763271
|
0.01816
|
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)
|
rs80193928
|
0.01815
|
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly)
|
rs78599355
|
0.01806
|
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser)
|
rs185987427
|
0.01804
|
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)
|
rs74922060
|
0.01800
|
NM_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
NM_173660.5(DOK7):c.-6C>G
|
rs191800156
|
0.01785
|
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)
|
rs8069375
|
0.01781
|
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe)
|
rs2163649
|
0.01776
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
NM_000440.3(PDE6A):c.998+11C>T
|
rs75319698
|
0.01758
|
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)
|
rs34162630
|
0.01756
|
NM_000142.5(FGFR3):c.348C>T (p.Arg116=)
|
rs2305179
|
0.01752
|
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)
|
rs16029
|
0.01749
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_001370658.1(BTD):c.-94C>T
|
rs114567021
|
0.01730
|
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=)
|
rs34997144
|
0.01727
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=)
|
rs111305262
|
0.01710
|
NM_004183.4(BEST1):c.618G>A (p.Leu206=)
|
rs62641693
|
0.01704
|
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)
|
rs74653691
|
0.01704
|
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)
|
rs2229995
|
0.01693
|
NM_005476.7(GNE):c.1770C>T (p.Tyr590=)
|
rs111302956
|
0.01688
|
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)
|
rs35984374
|
0.01679
|
NM_004006.3(DMD):c.832-17C>A
|
rs72470514
|
0.01678
|
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=)
|
rs56270948
|
0.01676
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)
|
rs5742912
|
0.01653
|
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser)
|
rs114376238
|
0.01651
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)
|
rs62145939
|
0.01642
|
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=)
|
rs28657061
|
0.01636
|
NM_001100.4(ACTA1):c.129+31C>A
|
rs144658220
|
0.01631
|
NM_006208.3(ENPP1):c.-13G>A
|
rs535293574
|
0.01629
|
NM_033337.3(CAV3):c.171G>A (p.Val57=)
|
rs61147808
|
0.01628
|
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp)
|
rs35289681
|
0.01618
|
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile)
|
rs34773557
|
0.01615
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)
|
rs4986888
|
0.01612
|
NM_031433.4(MFRP):c.355A>G (p.Ile119Val)
|
rs4639950
|
0.01611
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_000552.5(VWF):c.5049A>C (p.Ala1683=)
|
rs79275181
|
0.01607
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser)
|
rs79760961
|
0.01604
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_004004.6(GJB2):c.-15C>T
|
rs72561725
|
0.01589
|
NM_020365.5(EIF2B3):c.1202+8T>G
|
rs77068026
|
0.01589
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
NM_001848.3(COL6A1):c.1524+15G>A
|
rs116000285
|
0.01582
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys)
|
rs113488591
|
0.01568
|
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)
|
rs2230158
|
0.01567
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_001614.5(ACTG1):c.729C>T (p.Pro243=)
|
rs2230159
|
0.01563
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly)
|
rs41288773
|
0.01560
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val)
|
rs12481791
|
0.01548
|
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)
|
rs80356578
|
0.01544
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)
|
rs9924241
|
0.01528
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
NM_004369.4(COL6A3):c.6157-16G>A
|
rs112637114
|
0.01524
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_001171.6(ABCC6):c.3507-3C>T
|
rs41278172
|
0.01517
|
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu)
|
rs7023652
|
0.01515
|
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val)
|
rs72552054
|
0.01514
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_004006.3(DMD):c.832-18C>G
|
rs72470515
|
0.01505
|
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)
|
rs74034910
|
0.01504
|
NM_023110.3(FGFR1):c.2187-6C>T
|
rs4647904
|
0.01503
|
NM_000143.4(FH):c.904+47G>A
|
rs145209119
|
0.01502
|
NM_000271.5(NPC1):c.2514+6C>T
|
rs73392120
|
0.01501
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
|
rs17125721
|
0.01497
|
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys)
|
rs115371819
|
0.01496
|
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=)
|
rs77533254
|
0.01496
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_000124.4(ERCC6):c.528A>G (p.Arg176=)
|
rs4253027
|
0.01480
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_002693.3(POLG):c.128A>G (p.Gln43Arg)
|
rs28567406
|
0.01478
|
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=)
|
rs111744086
|
0.01476
|
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_000098.3(CPT2):c.1055T>G (p.Phe352Cys)
|
rs2229291
|
0.01469
|
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met)
|
rs35737219
|
0.01462
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)
|
rs79079368
|
0.01455
|
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met)
|
rs113513807
|
0.01455
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
NM_000492.4(CFTR):c.*1043A>C
|
rs10234329
|
0.01452
|
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=)
|
rs61745362
|
0.01450
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys)
|
rs78861628
|
0.01447
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_001061.7(TBXAS1):c.1349C>A (p.Thr450Asn)
|
rs5763
|
0.01438
|
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)
|
rs35242963
|
0.01438
|
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)
|
rs12493789
|
0.01436
|
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=)
|
rs7971022
|
0.01436
|
NM_006005.3(WFS1):c.9C>T (p.Ser3=)
|
rs71524363
|
0.01435
|
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp)
|
rs16844470
|
0.01433
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
NM_006059.4(LAMC3):c.-2C>T
|
rs137883250
|
0.01424
|
NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser)
|
rs61745888
|
0.01420
|
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
|
rs2279252
|
0.01416
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_173660.5(DOK7):c.1143C>T (p.Pro381=)
|
rs56769879
|
0.01415
|
NM_139343.3(BIN1):c.1362G>T (p.Gly454=)
|
rs61748155
|
0.01414
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=)
|
rs116888435
|
0.01403
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
NM_002471.4(MYH6):c.3979-7del
|
rs397516766
|
0.01401
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)
|
rs140776870
|
0.01391
|
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met)
|
rs35785620
|
0.01390
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_004560.4(ROR2):c.75G>A (p.Leu25=)
|
rs148237260
|
0.01389
|
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=)
|
rs79705634
|
0.01389
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=)
|
rs34367758
|
0.01387
|
NM_000321.3(RB1):c.2212-16T>A
|
rs201258424
|
0.01386
|
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=)
|
rs112290343
|
0.01385
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_000048.4(ASL):c.1164C>T (p.His388=)
|
rs75300185
|
0.01380
|
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)
|
rs1801158
|
0.01380
|
NM_001297.5(CNGB1):c.606A>G (p.Glu202=)
|
rs76788887
|
0.01379
|
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=)
|
rs80244281
|
0.01378
|
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=)
|
rs35489467
|
0.01378
|
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=)
|
rs80225158
|
0.01377
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=)
|
rs28610521
|
0.01376
|
NM_000540.3(RYR1):c.7835+7C>T
|
rs114522234
|
0.01374
|
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
|
rs6262
|
0.01372
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_002103.5(GYS1):c.1246A>G (p.Met416Val)
|
rs5447
|
0.01369
|
NM_001164508.2(NEB):c.195G>A (p.Pro65=)
|
rs79524813
|
0.01367
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
NM_000282.4(PCCA):c.1429+7A>G
|
rs16957276
|
0.01356
|
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=)
|
rs533485167
|
0.01351
|
NM_020751.3(COG6):c.898C>T (p.His300Tyr)
|
rs34555836
|
0.01351
|
NM_138694.4(PKHD1):c.11174+11A>G
|
rs115072237
|
0.01349
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)
|
rs16883930
|
0.01342
|
NM_001195553.2(DCX):c.947-46T>C
|
rs113181679
|
0.01340
|
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)
|
rs12478318
|
0.01339
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_170682.4(P2RX2):c.554+14C>A
|
rs151253585
|
0.01337
|
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
NM_153033.5(KCTD7):c.654C>T (p.Asp218=)
|
rs117194263
|
0.01331
|
NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys)
|
rs17173698
|
0.01330
|
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)
|
rs4369876
|
0.01322
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01316
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)
|
rs56234888
|
0.01307
|
NM_000263.4(NAGLU):c.764+19C>G
|
rs77738617
|
0.01306
|
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser)
|
rs61731962
|
0.01305
|
NM_000352.6(ABCC8):c.3329+6C>T
|
rs113873225
|
0.01304
|
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=)
|
rs80143277
|
0.01298
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser)
|
rs558018
|
0.01295
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=)
|
rs116098879
|
0.01291
|
NM_000209.4(PDX1):c.162G>A (p.Leu54=)
|
rs28509441
|
0.01287
|
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile)
|
rs62619924
|
0.01285
|
NM_000433.4(NCF2):c.890T>C (p.Val297Ala)
|
rs35937854
|
0.01284
|
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=)
|
rs79886797
|
0.01284
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01280
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_019066.5(MAGEL2):c.901C>T (p.Pro301Ser)
|
rs138154793
|
0.01279
|
NM_000106.6(CYP2D6):c.775del (p.Arg259fs)
|
rs35742686
|
0.01277
|
NM_001142800.2(EYS):c.9030A>G (p.Ala3010=)
|
rs61754905
|
0.01277
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01275
|
NM_000077.5(CDKN2A):c.-25C>T
|
rs144481587
|
0.01273
|
NM_031900.4(AGXT2):c.1188+1G>A
|
rs114286107
|
0.01270
|
NM_001159699.2(FHL1):c.737-13T>C
|
rs11798700
|
0.01269
|
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=)
|
rs61730772
|
0.01264
|
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=)
|
rs16866467
|
0.01263
|
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=)
|
rs35986650
|
0.01258
|
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg)
|
rs36044314
|
0.01250
|
NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser)
|
rs149903512
|
0.01248
|
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met)
|
rs61744696
|
0.01246
|
NM_001127649.3(PEX26):c.*10C>T
|
rs117472525
|
0.01244
|
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu)
|
rs114326915
|
0.01242
|
NM_022132.5(MCCC2):c.1574+37C>G
|
rs138725621
|
0.01241
|
NM_004385.5(VCAN):c.8622G>A (p.Ala2874=)
|
rs3096171
|
0.01237
|
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser)
|
rs61735304
|
0.01236
|
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)
|
rs17113312
|
0.01232
|
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)
|
rs55876273
|
0.01228
|
NM_201384.3(PLEC):c.2305-10del
|
rs142120912
|
0.01228
|
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys)
|
rs115477764
|
0.01222
|
NM_005609.4(PYGM):c.1569C>G (p.Leu523=)
|
rs114138772
|
0.01217
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01212
|
NM_004006.3(DMD):c.3021G>A (p.Ser1007=)
|
rs1800268
|
0.01212
|
NM_000436.4(OXCT1):c.480G>T (p.Gly160=)
|
rs78432029
|
0.01211
|
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser)
|
rs56212569
|
0.01207
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu)
|
rs34313873
|
0.01205
|
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=)
|
rs34749281
|
0.01204
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu)
|
rs4759043
|
0.01201
|
NM_000271.5(NPC1):c.3246-20G>A
|
rs6507717
|
0.01199
|
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=)
|
rs8132678
|
0.01197
|
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val)
|
rs35667974
|
0.01195
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)
|
rs76637913
|
0.01192
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)
|
rs145184792
|
0.01187
|
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)
|
rs35145938
|
0.01185
|
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr)
|
rs41313691
|
0.01184
|
NM_001848.3(COL6A1):c.859-20C>T
|
rs78884675
|
0.01182
|
NM_001848.3(COL6A1):c.717+32C>T
|
rs114454809
|
0.01179
|
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu)
|
rs55689103
|
0.01176
|
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)
|
rs151315725
|
0.01175
|
NM_022124.6(CDH23):c.1423G>A (p.Val475Met)
|
rs62622410
|
0.01173
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu)
|
rs12689863
|
0.01172
|
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu)
|
rs115857753
|
0.01168
|
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala)
|
rs35643193
|
0.01167
|
NM_001848.3(COL6A1):c.958-17G>A
|
rs79364611
|
0.01165
|
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)
|
rs34548196
|
0.01161
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=)
|
rs113264142
|
0.01159
|
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)
|
rs28364543
|
0.01154
|
NM_138694.4(PKHD1):c.8174-18T>A
|
rs111383080
|
0.01154
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=)
|
rs5349
|
0.01149
|
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=)
|
rs1042930
|
0.01149
|
NM_004369.4(COL6A3):c.768C>T (p.Val256=)
|
rs79606264
|
0.01148
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
NM_003482.4(KMT2D):c.8047-15C>T
|
rs202244933
|
0.01140
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_018941.4(CLN8):c.274C>T (p.His92Tyr)
|
rs34030778
|
0.01138
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter)
|
rs45621032
|
0.01134
|
NM_153240.5(NPHP3):c.57G>C (p.Thr19=)
|
rs192633696
|
0.01128
|
NM_018668.5(VPS33B):c.-8C>T
|
rs11542639
|
0.01125
|
NM_018965.4(TREM2):c.*73G>A
|
rs2234258
|
0.01125
|
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe)
|
rs6182
|
0.01122
|
NM_001848.3(COL6A1):c.645G>A (p.Ala215=)
|
rs115292913
|
0.01120
|
NM_000550.3(TYRP1):c.278G>A (p.Arg93His)
|
rs61752937
|
0.01118
|
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=)
|
rs117306121
|
0.01118
|
NM_004333.6(BRAF):c.-19C>T
|
rs71645935
|
0.01115
|
NM_005787.6(ALG3):c.319A>G (p.Ile107Val)
|
rs2233463
|
0.01115
|
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=)
|
rs73377210
|
0.01114
|
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)
|
rs189089167
|
0.01110
|
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)
|
rs5352
|
0.01109
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_001256715.2(DNAAF3):c.323-17T>G
|
rs10407660
|
0.01106
|
NM_001377.3(DYNC2H1):c.6478-6C>T
|
rs114254215
|
0.01103
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=)
|
rs6711223
|
0.01102
|
NM_001164688.2(RD3):c.584A>T (p.Asp195Val)
|
rs143207434
|
0.01101
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
NM_175914.5(HNF4A):c.*167T>A
|
rs11574744
|
0.01097
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)
|
rs115466046
|
0.01096
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)
|
rs11098943
|
0.01088
|
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)
|
rs371877084
|
0.01088
|
NM_000321.3(RB1):c.380+12T>C
|
rs3092881
|
0.01087
|
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val)
|
rs35902890
|
0.01086
|
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln)
|
rs61729839
|
0.01085
|
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln)
|
rs147838690
|
0.01083
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)
|
rs34155804
|
0.01079
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01075
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
NM_000717.5(CA4):c.700G>A (p.Val234Ile)
|
rs117704637
|
0.01071
|
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser)
|
rs1805069
|
0.01068
|
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser)
|
rs76381440
|
0.01066
|
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser)
|
rs2499481
|
0.01066
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.01065
|
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe)
|
rs78008536
|
0.01065
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)
|
rs113155945
|
0.01061
|
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)
|
rs115852080
|
0.01060
|
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)
|
rs36039758
|
0.01056
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_000451.4(SHOX):c.870G>A (p.Leu290=)
|
rs746391025
|
0.01047
|
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys)
|
rs17843865
|
0.01046
|
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln)
|
rs41289902
|
0.01045
|
NM_004006.3(DMD):c.7310-36C>T
|
rs72466586
|
0.01045
|
NM_001305581.2(LRMDA):c.132-253012del
|
rs146123023
|
0.01042
|
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)
|
rs35198096
|
0.01041
|
NM_153427.3(PITX2):c.46+8C>G
|
rs199896960
|
0.01041
|
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=)
|
rs35151382
|
0.01040
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_003659.4(AGPS):c.147C>T (p.Pro49=)
|
rs34442536
|
0.01033
|
NM_000098.3(CPT2):c.1767G>A (p.Thr589=)
|
rs77565483
|
0.01032
|
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser)
|
rs35156360
|
0.01032
|
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)
|
rs1800555
|
0.01028
|
NM_006517.5(SLC16A2):c.123C>T (p.Pro41=)
|
rs369603991
|
0.01028
|
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)
|
rs117761837
|
0.01028
|
NM_003863.4(DPM2):c.183G>A (p.Leu61=)
|
rs11552794
|
0.01027
|
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)
|
rs35889956
|
0.01026
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu)
|
rs189888707
|
0.01025
|
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=)
|
rs62636220
|
0.01025
|
NM_012186.3(FOXE3):c.423G>A (p.Lys141=)
|
rs145081583
|
0.01025
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_001918.5(DBT):c.1281+6T>G
|
rs140115881
|
0.01022
|
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)
|
rs142796310
|
0.01022
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_000512.5(GALNS):c.1002+17C>T
|
rs78494153
|
0.01020
|
NM_004006.3(DMD):c.31+36949C>T
|
rs182597890
|
0.01020
|
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)
|
rs35139588
|
0.01019
|
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg)
|
rs148594123
|
0.01015
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_006486.3(FBLN1):c.72G>A (p.Ala24=)
|
rs559662894
|
0.01015
|
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=)
|
rs34503558
|
0.01014
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)
|
rs1800269
|
0.01009
|
NM_020549.5(CHAT):c.2067C>T (p.Ile689=)
|
rs3793801
|
0.01009
|
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)
|
rs11553518
|
0.01008
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=)
|
rs35215952
|
0.01004
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val)
|
rs1127291
|
0.01003
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
NM_000388.4(CASR):c.2610G>A (p.Glu870=)
|
rs143738711
|
0.01002
|
NM_001079802.2(FKTN):c.42G>A (p.Thr14=)
|
rs78794935
|
0.01002
|
NM_005120.3(MED12):c.5535C>T (p.Asn1845=)
|
rs34784349
|
0.01002
|
NM_001079802.2(FKTN):c.106-40A>G
|
rs79175958
|
0.01001
|
NM_001079802.2(FKTN):c.106-10G>A
|
rs148384394
|
0.01000
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe)
|
rs75301950
|
0.01000
|
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser)
|
rs56398830
|
0.00998
|
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)
|
rs61735835
|
0.00998
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00997
|
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=)
|
rs184883626
|
0.00997
|
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00995
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser)
|
rs73270846
|
0.00993
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
NM_003361.4(UMOD):c.538C>G (p.Leu180Val)
|
rs187555378
|
0.00991
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
NM_005199.5(CHRNG):c.951C>A (p.Ile317=)
|
rs75369104
|
0.00988
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00985
|
NM_000515.5(GH1):c.116C>T (p.Ala39Val)
|
rs151263636
|
0.00985
|
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)
|
rs77775126
|
0.00985
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)
|
rs142735148
|
0.00983
|
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys)
|
rs147266709
|
0.00982
|
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)
|
rs141166141
|
0.00982
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00981
|
NM_001077365.2(POMT1):c.78G>A (p.Gly26=)
|
rs149554732
|
0.00980
|
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)
|
rs59252892
|
0.00979
|
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
|
rs114975624
|
0.00971
|
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val)
|
rs149140724
|
0.00970
|
NM_000026.4(ADSL):c.124C>T (p.Leu42=)
|
rs2228415
|
0.00969
|
NM_201384.3(PLEC):c.2832C>T (p.Gly944=)
|
rs145050858
|
0.00969
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
|
rs114814747
|
0.00964
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg)
|
rs16999593
|
0.00959
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)
|
rs1007211
|
0.00957
|
NM_001324144.2(ZNF41):c.945T>G (p.Asp315Glu)
|
rs2498170
|
0.00954
|
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)
|
rs74518295
|
0.00953
|
NM_005876.5(SPEG):c.116T>C (p.Val39Ala)
|
rs565137573
|
0.00953
|
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)
|
rs34421970
|
0.00952
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=)
|
rs59844753
|
0.00947
|
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168
|
0.00946
|
NM_001130987.2(DYSF):c.3757-12C>T
|
rs114968209
|
0.00943
|
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys)
|
rs1521808
|
0.00943
|
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)
|
rs56307810
|
0.00942
|
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His)
|
rs34879202
|
0.00942
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
NM_001136193.2(FASTKD2):c.-51A>G
|
rs116297724
|
0.00938
|
NM_002076.4(GNS):c.21C>G (p.Ala7=)
|
rs61743823
|
0.00937
|
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)
|
rs140480823
|
0.00931
|
NM_004260.4(RECQL4):c.1879-15C>A
|
rs35126141
|
0.00929
|
NM_170707.4(LMNA):c.1158-44C>T
|
rs141879453
|
0.00929
|
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala)
|
rs189108830
|
0.00928
|
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)
|
rs138421850
|
0.00928
|
NM_001848.3(COL6A1):c.1740+50C>T
|
rs148205490
|
0.00926
|
NM_000203.5(IDUA):c.299+6C>T
|
rs147498923
|
0.00924
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His)
|
rs140547835
|
0.00922
|
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)
|
rs78266558
|
0.00922
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_138694.4(PKHD1):c.391-43T>A
|
rs116414807
|
0.00920
|
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)
|
rs62646879
|
0.00919
|
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)
|
rs180849348
|
0.00918
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_001360016.2(G6PD):c.645-17C>T
|
rs5986875
|
0.00915
|
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)
|
rs62151609
|
0.00915
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00914
|
NM_000552.5(VWF):c.5313G>T (p.Gly1771=)
|
rs2229448
|
0.00914
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
|
rs58238559
|
0.00910
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_005677.4(COLQ):c.291G>A (p.Ser97=)
|
rs115201284
|
0.00908
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_005413.4(SIX3):c.525G>A (p.Gln175=)
|
rs116680477
|
0.00907
|
NM_153240.5(NPHP3):c.450G>A (p.Ala150=)
|
rs78527322
|
0.00906
|
NM_007254.4(PNKP):c.1127-8C>T
|
rs3739203
|
0.00901
|
NM_004369.4(COL6A3):c.6408+44A>G
|
rs78398512
|
0.00900
|
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=)
|
rs6089898
|
0.00898
|
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser)
|
rs2295191
|
0.00898
|
NM_003361.4(UMOD):c.1740+38C>T
|
rs116674896
|
0.00897
|
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
|
rs149030303
|
0.00897
|
NM_198525.3(KIF7):c.2271C>T (p.Ala757=)
|
rs35451920
|
0.00897
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
0.00894
|
NM_001128227.3(GNE):c.-10G>A
|
rs73449614
|
0.00894
|
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)
|
rs34541442
|
0.00893
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)
|
rs61995747
|
0.00892
|
NM_000523.4(HOXD13):c.41C>T (p.Ala14Val)
|
rs555136684
|
0.00891
|
UGT1A1*6
|
rs4148323
|
0.00891
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
CYP2D6*6
|
rs5030655
|
0.00883
|
NM_001202.6(BMP4):c.370+28G>A
|
rs72680532
|
0.00883
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
NM_001114753.3(ENG):c.1374A>G (p.Pro458=)
|
rs34828244
|
0.00879
|
NM_000326.5(RLBP1):c.346+3_346+8del
|
rs56307321
|
0.00878
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr)
|
rs35735053
|
0.00876
|
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met)
|
rs72655972
|
0.00876
|
NM_000540.3(RYR1):c.10259+7G>A
|
rs143752962
|
0.00875
|
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)
|
rs79040751
|
0.00875
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn)
|
rs765169217
|
0.00868
|
NM_022437.3(ABCG8):c.51C>A (p.Pro17=)
|
rs72647316
|
0.00868
|
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser)
|
rs61735104
|
0.00867
|
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)
|
rs111326315
|
0.00867
|
NM_004700.4(KCNQ4):c.-14G>T
|
rs886042324
|
0.00867
|
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=)
|
rs2301357
|
0.00867
|
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)
|
rs141309384
|
0.00866
|
NM_019066.5(MAGEL2):c.1446T>C (p.Ala482=)
|
rs2233065
|
0.00866
|
NM_032575.3(GLIS2):c.70C>A (p.Arg24=)
|
rs34543395
|
0.00866
|
NM_000426.4(LAMA2):c.8548-10T>C
|
rs113644365
|
0.00865
|
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)
|
rs146249007
|
0.00864
|
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile)
|
rs113825926
|
0.00863
|
NM_001128178.3(NPHP1):c.772-17G>A
|
rs146343637
|
0.00862
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
|
rs3729823
|
0.00861
|
NM_001317778.2(SFTPC):c.43-7G>A
|
rs79440568
|
0.00861
|
NM_000512.5(GALNS):c.723C>T (p.Ala241=)
|
rs117053987
|
0.00855
|
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)
|
rs140237315
|
0.00855
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=)
|
rs11829764
|
0.00853
|
NM_006306.4(SMC1A):c.2197-5T>C
|
rs2297104
|
0.00852
|
NM_201384.3(PLEC):c.1752C>T (p.Pro584=)
|
rs185978075
|
0.00852
|
NM_000404.4(GLB1):c.552+21G>A
|
rs76275661
|
0.00847
|
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln)
|
rs142639450
|
0.00847
|
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)
|
rs75937132
|
0.00847
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs)
|
rs200353947
|
0.00844
|
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala)
|
rs71535732
|
0.00843
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_019066.5(MAGEL2):c.383T>C (p.Leu128Pro)
|
rs191559595
|
0.00841
|
NM_000033.4(ABCD1):c.901-16C>T
|
rs41302176
|
0.00840
|
NM_000255.4(MMUT):c.1992G>A (p.Ala664=)
|
rs144146728
|
0.00839
|
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=)
|
rs117901891
|
0.00839
|
NM_001195553.2(DCX):c.705+48A>G
|
rs201805884
|
0.00836
|
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met)
|
rs34314205
|
0.00836
|
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)
|
rs61740509
|
0.00831
|
NM_000186.4(CFH):c.2634C>T (p.His878=)
|
rs35292876
|
0.00829
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg)
|
rs41494349
|
0.00826
|
NM_004006.3(DMD):c.-419A>G
|
rs150939177
|
0.00821
|
NM_004715.5(CTDP1):c.213G>C (p.Gly71=)
|
rs201234471
|
0.00821
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=)
|
rs150857429
|
0.00816
|
NM_000478.6(ALPL):c.455G>A (p.Arg152His)
|
rs149344982
|
0.00814
|
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile)
|
rs75583421
|
0.00814
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)
|
rs77782321
|
0.00810
|
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)
|
rs114152068
|
0.00810
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
NM_001079802.2(FKTN):c.166-6A>G
|
rs41277795
|
0.00808
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp)
|
rs41299623
|
0.00808
|
NM_020451.3(SELENON):c.747+39C>T
|
rs114458946
|
0.00808
|
NM_000327.4(ROM1):c.868del (p.Gln290fs)
|
rs548233813
|
0.00807
|
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)
|
rs144635565
|
0.00806
|
NM_001079802.2(FKTN):c.910+14G>A
|
rs76180538
|
0.00806
|
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=)
|
rs17145653
|
0.00806
|
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=)
|
rs77898819
|
0.00804
|
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
|
rs61910685
|
0.00804
|
NM_133497.4(KCNV2):c.849G>A (p.Glu283=)
|
rs17656693
|
0.00801
|
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=)
|
rs10405232
|
0.00800
|
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_024757.5(EHMT1):c.1369+9C>T
|
rs146125583
|
0.00794
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)
|
rs80039127
|
0.00793
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000466.3(PEX1):c.2901G>A (p.Gln967=)
|
rs111704518
|
0.00792
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)
|
rs116660078
|
0.00791
|
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met)
|
rs114274755
|
0.00791
|
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
|
rs34442879
|
0.00790
|
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)
|
rs149055334
|
0.00789
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00788
|
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)
|
rs56219475
|
0.00787
|
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)
|
rs78461695
|
0.00787
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_001277313.2(FMN1):c.2044-1818A>G
|
rs74655292
|
0.00784
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
NM_018100.4(EFHC1):c.662G>A (p.Arg221His)
|
rs79761183
|
0.00778
|
NM_000141.5(FGFR2):c.294G>A (p.Thr98=)
|
rs1047101
|
0.00776
|
NM_001009944.3(PKD1):c.1710C>T (p.His570=)
|
rs367983387
|
0.00775
|
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)
|
rs55886356
|
0.00774
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?)
|
rs553265417
|
0.00773
|
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=)
|
rs45506098
|
0.00771
|
NM_138694.4(PKHD1):c.7110-7T>A
|
rs113034899
|
0.00770
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)
|
rs75288466
|
0.00769
|
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)
|
rs140791735
|
0.00769
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile)
|
rs5019554
|
0.00766
|
NM_004273.5(CHST3):c.1173C>A (p.Ile391=)
|
rs115579748
|
0.00763
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)
|
rs1800172
|
0.00760
|
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)
|
rs200793796
|
0.00760
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
NM_130837.3(OPA1):c.2961C>T (p.Arg987=)
|
rs35540805
|
0.00758
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val)
|
rs3729952
|
0.00756
|
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn)
|
rs138083522
|
0.00756
|
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe)
|
rs3747333
|
0.00756
|
NM_005138.3(SCO2):c.763C>A (p.Arg255=)
|
rs112793292
|
0.00755
|
NM_000282.4(PCCA):c.2119-43T>C
|
rs150390822
|
0.00754
|
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)
|
rs143414291
|
0.00754
|
NM_130837.3(OPA1):c.2049A>G (p.Val683=)
|
rs73069703
|
0.00753
|
NM_000231.3(SGCG):c.-6T>C
|
rs141771521
|
0.00749
|
NM_000875.5(IGF1R):c.2700C>T (p.Asn900=)
|
rs56400113
|
0.00749
|
NM_198999.3(SLC26A5):c.-53-2A>G
|
rs116900495
|
0.00748
|
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser)
|
rs3746609
|
0.00747
|
NM_001384140.1(PCDH15):c.4672-1637G>A
|
rs139441645
|
0.00746
|
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=)
|
rs113335442
|
0.00745
|
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)
|
rs34391943
|
0.00744
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_004006.3(DMD):c.3603+8A>G
|
rs193249735
|
0.00743
|
NM_006432.5(NPC2):c.442-4A>C
|
rs114950106
|
0.00742
|
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys)
|
rs72957510
|
0.00742
|
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)
|
rs111033477
|
0.00740
|
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)
|
rs116826041
|
0.00739
|
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile)
|
rs147895473
|
0.00739
|
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)
|
rs61732664
|
0.00738
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln)
|
rs183329050
|
0.00737
|
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)
|
rs34150427
|
0.00734
|
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg)
|
rs192925278
|
0.00734
|
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)
|
rs35707762
|
0.00734
|
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)
|
rs33956783
|
0.00733
|
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val)
|
rs111759069
|
0.00733
|
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=)
|
rs34561092
|
0.00733
|
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)
|
rs60582583
|
0.00733
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00732
|
NM_003640.5(ELP1):c.1230G>A (p.Pro410=)
|
rs41278359
|
0.00732
|
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)
|
rs112469769
|
0.00730
|
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)
|
rs45464693
|
0.00730
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)
|
rs146953558
|
0.00728
|
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile)
|
rs147493246
|
0.00727
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)
|
rs75714509
|
0.00723
|
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
|
rs139014478
|
0.00721
|
NM_144997.7(FLCN):c.1538+14T>G
|
rs112111994
|
0.00721
|
NM_001844.5(COL2A1):c.708+8C>T
|
rs41317893
|
0.00720
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)
|
rs1801505
|
0.00719
|
NM_002335.4(LRP5):c.687-8G>A
|
rs190810239
|
0.00718
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
NM_001164508.2(NEB):c.2832C>T (p.Ser944=)
|
rs114076205
|
0.00714
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_018965.4(TREM2):c.185G>A (p.Arg62His)
|
rs143332484
|
0.00714
|
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=)
|
rs76426116
|
0.00714
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_001848.3(COL6A1):c.1823-8G>A
|
rs184666690
|
0.00711
|
NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys)
|
rs75125670
|
0.00711
|
NM_207034.2(EDN3):c.-248G>A
|
rs542818479
|
0.00709
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=)
|
rs60091617
|
0.00708
|
NM_000512.5(GALNS):c.775C>A (p.Arg259=)
|
rs61742258
|
0.00707
|
NM_001130987.2(DYSF):c.*107T>A
|
rs11903223
|
0.00707
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro)
|
rs565885690
|
0.00707
|
NM_000360.4(TH):c.684G>A (p.Glu228=)
|
rs11564716
|
0.00706
|
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)
|
rs112571971
|
0.00706
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)
|
rs78268395
|
0.00705
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)
|
rs114363936
|
0.00703
|
NM_001379110.1(SLC9A6):c.1662-4G>A
|
rs188072063
|
0.00703
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
NM_004316.4(ASCL1):c.123A>G (p.Ala41=)
|
rs558732328
|
0.00702
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)
|
rs17452588
|
0.00701
|
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)
|
rs3827522
|
0.00701
|
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu)
|
rs117706710
|
0.00700
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_213599.3(ANO5):c.1545A>G (p.Ser515=)
|
rs35843353
|
0.00699
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)
|
rs17354992
|
0.00698
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=)
|
rs77310009
|
0.00694
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
NM_133642.5(LARGE1):c.-31G>A
|
rs117199378
|
0.00694
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
NM_001902.6(CTH):c.200C>T (p.Thr67Ile)
|
rs28941785
|
0.00693
|
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=)
|
rs151313865
|
0.00691
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
NM_005148.4(UNC119):c.65G>T (p.Gly22Val)
|
rs199714731
|
0.00691
|
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)
|
rs62619919
|
0.00690
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro)
|
rs149252987
|
0.00689
|
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)
|
rs55685423
|
0.00688
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
NM_014363.6(SACS):c.4188C>T (p.His1396=)
|
rs61754477
|
0.00688
|
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)
|
rs9550956
|
0.00688
|
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)
|
rs115960224
|
0.00687
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)
|
rs41266697
|
0.00686
|
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala)
|
rs35794435
|
0.00685
|
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)
|
rs150895887
|
0.00683
|
NM_001148.6(ANK2):c.2377-8C>T
|
rs139893914
|
0.00682
|
NM_033100.4(CDHR1):c.-1C>T
|
rs114273269
|
0.00682
|
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)
|
rs187343008
|
0.00681
|
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=)
|
rs77612903
|
0.00681
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
NM_001848.3(COL6A1):c.3054C>T (p.His1018=)
|
rs141237809
|
0.00680
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00680
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_000035.4(ALDOB):c.-214G>A
|
rs185972191
|
0.00678
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)
|
rs146708884
|
0.00677
|
NM_000219.6(KCNE1):c.84G>A (p.Ser28=)
|
rs17173510
|
0.00676
|
NM_001128228.3(TPRN):c.206G>A (p.Arg69Gln)
|
rs548415902
|
0.00676
|
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile)
|
rs151091241
|
0.00676
|
NM_000038.6(APC):c.5265G>A (p.Ala1755=)
|
rs34506289
|
0.00675
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
NM_000306.4(POU1F1):c.666-5G>A
|
rs76296626
|
0.00674
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=)
|
rs148865812
|
0.00674
|
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile)
|
rs184262608
|
0.00672
|
NM_001848.3(COL6A1):c.588+37A>G
|
rs117470181
|
0.00672
|
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu)
|
rs142948530
|
0.00672
|
NM_006005.3(WFS1):c.2335G>A (p.Val779Met)
|
rs141328044
|
0.00672
|
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)
|
rs149416418
|
0.00671
|
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)
|
rs146591126
|
0.00669
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)
|
rs2634197
|
0.00668
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
NM_005097.4(LGI1):c.216-55T>C
|
rs143132529
|
0.00666
|
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)
|
rs17711594
|
0.00665
|
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=)
|
rs79230542
|
0.00665
|
NM_018136.5(ASPM):c.3742-10T>G
|
rs41299587
|
0.00665
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)
|
rs144876996
|
0.00659
|
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser)
|
rs80046653
|
0.00659
|
NM_014000.3(VCL):c.2801C>T (p.Ala934Val)
|
rs16931179
|
0.00658
|
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)
|
rs140029076
|
0.00658
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_001106.4(ACVR2B):c.1075-5C>T
|
rs115155428
|
0.00657
|
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)
|
rs2229474
|
0.00657
|
NM_018136.5(ASPM):c.3741+3A>G
|
rs138558822
|
0.00656
|
NM_000059.4(BRCA2):c.5704G>A
|
rs4987048
|
0.00655
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg)
|
rs200367963
|
0.00653
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_198506.5(LRIT3):c.1509G>A (p.Thr503=)
|
rs76587489
|
0.00652
|
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys)
|
rs201355503
|
0.00651
|
NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=)
|
rs116964444
|
0.00651
|
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=)
|
rs144469613
|
0.00650
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
NM_018714.3(COG1):c.1049C>T (p.Thr350Met)
|
rs117344829
|
0.00650
|
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn)
|
rs116373583
|
0.00649
|
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val)
|
rs111851716
|
0.00648
|
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn)
|
rs36090425
|
0.00646
|
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly)
|
rs76767949
|
0.00646
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
NM_032601.4(MCEE):c.102C>G (p.Pro34=)
|
rs146573280
|
0.00646
|
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)
|
rs147487242
|
0.00646
|
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)
|
rs143147192
|
0.00645
|
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg)
|
rs201962705
|
0.00645
|
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=)
|
rs34060600
|
0.00644
|
NM_001029896.2(WDR45):c.838G>A (p.Val280Met)
|
rs149509552
|
0.00644
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
NM_004082.5(DCTN1):c.3529+5G>A
|
rs72466494
|
0.00644
|
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser)
|
rs74967568
|
0.00644
|
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln)
|
rs142032474
|
0.00643
|
NM_020451.3(SELENON):c.-14C>A
|
rs867555591
|
0.00642
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=)
|
rs111381107
|
0.00641
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
NM_000337.6(SGCD):c.294+8T>C
|
rs11748588
|
0.00640
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00640
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)
|
rs35738915
|
0.00636
|
NM_001165963.4(SCN1A):c.384-20G>C
|
rs192956852
|
0.00635
|
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln)
|
rs146797353
|
0.00635
|
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr)
|
rs78763451
|
0.00634
|
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=)
|
rs150691758
|
0.00634
|
NM_002764.4(PRPS1):c.456A>G (p.Leu152=)
|
rs61735617
|
0.00632
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
NM_004447.6(EPS8):c.104A>G (p.His35Arg)
|
rs71532816
|
0.00631
|
NM_031433.4(MFRP):c.1635G>A (p.Ala545=)
|
rs138370910
|
0.00631
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala)
|
rs34837068
|
0.00631
|
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)
|
rs558770240
|
0.00630
|
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp)
|
rs61746568
|
0.00630
|
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)
|
rs146072491
|
0.00628
|
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His)
|
rs116872934
|
0.00628
|
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile)
|
rs61755430
|
0.00628
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=)
|
rs118185564
|
0.00627
|
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu)
|
rs62642528
|
0.00626
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val)
|
rs111229124
|
0.00625
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
NM_152384.3(BBS5):c.620G>A (p.Arg207His)
|
rs35487251
|
0.00625
|
NM_003036.4(SKI):c.1974C>T (p.Arg658=)
|
rs201895384
|
0.00623
|
NM_004006.3(DMD):c.3787-18T>C
|
rs72468656
|
0.00621
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
NM_000275.3(OCA2):c.574-19A>G
|
rs145242923
|
0.00618
|
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)
|
rs28763961
|
0.00618
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)
|
rs34737974
|
0.00618
|
NM_025243.4(SLC19A3):c.309G>A (p.Val103=)
|
rs142837989
|
0.00618
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
NM_015158.5(KANK1):c.149A>T (p.Asp50Val)
|
rs61737971
|
0.00617
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)
|
rs187810163
|
0.00617
|
NM_001077365.2(POMT1):c.891G>A (p.Leu297=)
|
rs76109289
|
0.00616
|
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)
|
rs16020
|
0.00616
|
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)
|
rs16026
|
0.00616
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)
|
rs56181243
|
0.00615
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
NM_000554.6(CRX):c.365G>A (p.Gly122Asp)
|
rs61748441
|
0.00614
|
NM_000070.3(CAPN3):c.495C>T (p.Phe165=)
|
rs1801324
|
0.00613
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)
|
rs34618570
|
0.00613
|
NM_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser)
|
rs56204273
|
0.00613
|
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His)
|
rs114156788
|
0.00612
|
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)
|
rs62625033
|
0.00610
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)
|
rs72768728
|
0.00609
|
NM_012418.4(FSCN2):c.412C>T (p.His138Tyr)
|
rs143796236
|
0.00609
|
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=)
|
rs138477292
|
0.00609
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)
|
rs113671330
|
0.00608
|
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=)
|
rs35480887
|
0.00607
|
NM_000540.3(RYR1):c.573C>T (p.Asp191=)
|
rs892054
|
0.00607
|
NM_001277115.2(DNAH11):c.1426-9T>C
|
rs72655983
|
0.00607
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00605
|
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)
|
rs199897247
|
0.00605
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser)
|
rs115892604
|
0.00605
|
NM_001267550.2(TTN):c.30683-2A>T
|
rs886043892
|
0.00604
|
NM_001378414.1(HDAC4):c.1692G>A (p.Lys564=)
|
rs114495208
|
0.00604
|
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)
|
rs184420466
|
0.00604
|
NM_001037.5(SCN1B):c.-9C>A
|
rs66671189
|
0.00603
|
NM_201384.3(PLEC):c.2961C>T (p.Ser987=)
|
rs149932255
|
0.00603
|
NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr)
|
rs34973107
|
0.00602
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)
|
rs36023150
|
0.00602
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00601
|
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu)
|
rs73933023
|
0.00601
|
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys)
|
rs141536854
|
0.00601
|
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu)
|
rs186758849
|
0.00601
|
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)
|
rs28364441
|
0.00600
|
NM_002180.3(IGHMBP2):c.256+9G>A
|
rs118015540
|
0.00600
|
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=)
|
rs75181912
|
0.00599
|
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala)
|
rs117804715
|
0.00599
|
NM_015102.5(NPHP4):c.1442-7C>T
|
rs146078470
|
0.00599
|
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)
|
rs121908970
|
0.00599
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_001195248.2(APTX):c.596G>A (p.Arg199His)
|
rs150886026
|
0.00598
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=)
|
rs35854729
|
0.00598
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_012301.4(MAGI2):c.276C>G (p.Pro92=)
|
rs146012909
|
0.00597
|
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)
|
rs148450315
|
0.00596
|
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys)
|
rs61733363
|
0.00596
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_001077365.2(POMT1):c.1826-40G>A
|
rs187443595
|
0.00596
|
NM_002764.4(PRPS1):c.477C>T (p.Ile159=)
|
rs61752962
|
0.00596
|
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)
|
rs117064287
|
0.00595
|
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln)
|
rs145115262
|
0.00595
|
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)
|
rs16998350
|
0.00594
|
NM_054012.4(ASS1):c.106-10T>G
|
rs73541957
|
0.00593
|
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg)
|
rs36078476
|
0.00592
|
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)
|
rs61729366
|
0.00592
|
NM_001849.4(COL6A2):c.2769C>T (p.His923=)
|
rs140419176
|
0.00591
|
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr)
|
rs148276213
|
0.00591
|
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys)
|
rs77675624
|
0.00591
|
NM_000492.4(CFTR):c.164+28A>G
|
rs34010645
|
0.00589
|
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala)
|
rs35884879
|
0.00589
|
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)
|
rs114126795
|
0.00589
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00587
|
NM_000843.4(GRM6):c.1953C>T (p.Ala651=)
|
rs62638620
|
0.00587
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly)
|
rs13406336
|
0.00586
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
NM_000287.4(PEX6):c.813G>T (p.Ala271=)
|
rs35503676
|
0.00583
|
NM_000249.4(MLH1):c.1038+51C>T
|
rs55986674
|
0.00582
|
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp)
|
rs80297119
|
0.00582
|
NM_004006.3(DMD):c.3432+2036A>C
|
rs182575709
|
0.00580
|
NM_032119.4(ADGRV1):c.2553+11T>A
|
rs73181640
|
0.00580
|
NM_182961.4(SYNE1):c.4789-13G>A
|
rs142900784
|
0.00579
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)
|
rs72554028
|
0.00578
|
NM_000283.4(PDE6B):c.615C>T (p.Asp205=)
|
rs149293844
|
0.00577
|
NM_002435.3(MPI):c.982C>T (p.Arg328Trp)
|
rs117089191
|
0.00577
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
NM_024105.4(ALG12):c.645G>A (p.Pro215=)
|
rs12167668
|
0.00577
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)
|
rs148144444
|
0.00577
|
NM_130837.3(OPA1):c.420G>T (p.Val140=)
|
rs35801538
|
0.00577
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_000254.3(MTR):c.858C>T (p.Pro286=)
|
rs146019467
|
0.00576
|
NM_001134363.3(RBM20):c.1881-3C>T
|
rs138436392
|
0.00575
|
NM_001558.4(IL10RA):c.21G>C (p.Val7=)
|
rs4252301
|
0.00575
|
NM_020066.5(FMN2):c.883T>C (p.Ser295Pro)
|
rs201538863
|
0.00575
|
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)
|
rs73969684
|
0.00574
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_006031.6(PCNT):c.8752-5A>C
|
rs149444205
|
0.00573
|
NM_014908.4(DOLK):c.1dup (p.Met1fs)
|
rs531969689
|
0.00573
|
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro)
|
rs61734466
|
0.00572
|
NM_016120.4(RLIM):c.777G>A (p.Thr259=)
|
rs148132680
|
0.00572
|
NM_138694.4(PKHD1):c.2279+13T>G
|
rs188914598
|
0.00572
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys)
|
rs149248373
|
0.00571
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_005379.4(MYO1A):c.916G>A (p.Val306Met)
|
rs55679042
|
0.00570
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_181882.3(PRX):c.133C>G (p.Arg45Gly)
|
rs115090201
|
0.00569
|
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)
|
rs34132016
|
0.00569
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)
|
rs34778324
|
0.00568
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)
|
rs138436961
|
0.00566
|
NM_001292063.2(OTOG):c.8542-8C>T
|
rs182750732
|
0.00565
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys)
|
rs61744487
|
0.00561
|
NM_001848.3(COL6A1):c.739-18C>T
|
rs144843800
|
0.00561
|
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=)
|
rs74328058
|
0.00561
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_000018.4(ACADVL):c.636C>T (p.Ala212=)
|
rs76547988
|
0.00560
|
NM_000515.5(GH1):c.406G>A (p.Val136Ile)
|
rs5388
|
0.00560
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)
|
rs79182085
|
0.00560
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)
|
rs138123155
|
0.00559
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
NM_019616.4(F7):c.740-10T>C
|
rs3093266
|
0.00559
|
NM_000432.4(MYL2):c.381G>A (p.Ala127=)
|
rs2233261
|
0.00558
|
NM_005709.4(USH1C):c.1266G>A (p.Thr422=)
|
rs35188020
|
0.00558
|
NM_000426.4(LAMA2):c.4437-5T>A
|
rs41285288
|
0.00557
|
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=)
|
rs34948955
|
0.00557
|
NM_000243.3(MEFV):c.1587+33C>G
|
rs146820856
|
0.00556
|
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=)
|
rs115216455
|
0.00556
|
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr)
|
rs149601594
|
0.00556
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00555
|
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
|
rs147122501
|
0.00554
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
NM_198525.3(KIF7):c.1266C>G (p.Leu422=)
|
rs8030837
|
0.00552
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=)
|
rs35114079
|
0.00549
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)
|
rs41311573
|
0.00548
|
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu)
|
rs150515843
|
0.00548
|
NM_002087.4(GRN):c.264+7G>A
|
rs60100877
|
0.00548
|
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=)
|
rs35089085
|
0.00547
|
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)
|
rs2307450
|
0.00547
|
NM_001845.6(COL4A1):c.393G>A (p.Glu131=)
|
rs34458255
|
0.00546
|
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=)
|
rs1992376
|
0.00546
|
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=)
|
rs148493518
|
0.00546
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
NM_024740.2(ALG9):c.1383C>T (p.Thr461=)
|
rs45516107
|
0.00545
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
NM_015631.6(TCTN3):c.630T>C (p.Ala210=)
|
rs41299157
|
0.00543
|
NM_014714.4(IFT140):c.4040+10C>T
|
rs138364426
|
0.00542
|
NM_178012.5(TUBB2B):c.330C>T (p.Ala110=)
|
rs141251993
|
0.00541
|
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)
|
rs73113975
|
0.00540
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
NM_001037.5(SCN1B):c.300C>T (p.Asp100=)
|
rs16969927
|
0.00539
|
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=)
|
rs201733315
|
0.00539
|
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu)
|
rs74591375
|
0.00539
|
NM_138694.4(PKHD1):c.2407+42T>G
|
rs78918693
|
0.00539
|
NM_000266.4(NDP):c.69C>G (p.Asp23Glu)
|
rs5952410
|
0.00538
|
NM_001061.7(TBXAS1):c.357G>A (p.Ser119=)
|
rs41275018
|
0.00538
|
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=)
|
rs144384573
|
0.00538
|
NM_032322.4(RNF135):c.1245G>T (p.Trp415Cys)
|
rs61749868
|
0.00538
|
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)
|
rs140916001
|
0.00537
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
0.00536
|
NM_006204.4(PDE6C):c.1936-9A>G
|
rs182445749
|
0.00536
|
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=)
|
rs115211871
|
0.00535
|
NM_003124.5(SPR):c.112G>A (p.Val38Ile)
|
rs146099322
|
0.00535
|
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=)
|
rs149796549
|
0.00535
|
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr)
|
rs62642053
|
0.00533
|
NM_001256715.2(DNAAF3):c.323-4del
|
rs201986299
|
0.00533
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)
|
rs149814240
|
0.00533
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_000541.5(SAG):c.250C>T (p.Arg84Cys)
|
rs115857633
|
0.00530
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_016204.4(GDF2):c.911C>T (p.Thr304Met)
|
rs75024165
|
0.00530
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
NM_139315.3(TAF6):c.1722C>T (p.Thr574=)
|
rs145939245
|
0.00530
|
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser)
|
rs55971855
|
0.00530
|
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)
|
rs11554412
|
0.00529
|
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)
|
rs77951481
|
0.00528
|
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=)
|
rs150771329
|
0.00528
|
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro)
|
rs117070973
|
0.00528
|
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)
|
rs6413464
|
0.00527
|
NM_001848.3(COL6A1):c.1119+39C>T
|
rs74982956
|
0.00527
|
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)
|
rs61748364
|
0.00526
|
NM_014425.5(INVS):c.740A>G (p.Asn247Ser)
|
rs41312220
|
0.00526
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_001365951.3(KIF1B):c.2115+6956A>G
|
rs148481786
|
0.00525
|
NM_024296.5(CCDC28B):c.463G>A (p.Gly155Arg)
|
rs140234450
|
0.00525
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys)
|
rs113455884
|
0.00524
|
NM_182914.3(SYNE2):c.12378C>T (p.Ser4126=)
|
rs36007735
|
0.00524
|
NM_002617.4(PEX10):c.6C>G (p.Ala2=)
|
rs112471479
|
0.00523
|
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)
|
rs72655977
|
0.00522
|
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp)
|
rs114823319
|
0.00522
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261
|
0.00521
|
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)
|
rs35012521
|
0.00520
|
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys)
|
rs76956231
|
0.00520
|
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931
|
0.00520
|
NM_012188.5(FOXI1):c.726C>T (p.Ser242=)
|
rs35678180
|
0.00520
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00519
|
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser)
|
rs139688311
|
0.00518
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)
|
rs140990288
|
0.00518
|
NM_138694.4(PKHD1):c.9829+10T>G
|
rs143526199
|
0.00518
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=)
|
rs61750975
|
0.00517
|
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556
|
0.00517
|
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
NM_138694.4(PKHD1):c.1964+17G>T
|
rs201349527
|
0.00517
|
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser)
|
rs138031468
|
0.00517
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp)
|
rs144471022
|
0.00516
|
NM_022124.6(CDH23):c.3999G>A (p.Val1333=)
|
rs111033453
|
0.00516
|
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln)
|
rs114264124
|
0.00516
|
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)
|
rs115913736
|
0.00515
|
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)
|
rs45589337
|
0.00513
|
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=)
|
rs145376880
|
0.00513
|
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)
|
rs41298747
|
0.00512
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)
|
rs121917710
|
0.00511
|
NM_000273.3(GPR143):c.250+11G>C
|
rs375563631
|
0.00511
|
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser)
|
rs116690692
|
0.00511
|
NM_032634.4(PIGO):c.2040G>C (p.Leu680=)
|
rs41274877
|
0.00511
|
NM_133497.4(KCNV2):c.312T>C (p.Gly104=)
|
rs150685794
|
0.00511
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_000335.5(SCN5A):c.3508+10C>T
|
rs41258454
|
0.00510
|
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=)
|
rs148170949
|
0.00509
|
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=)
|
rs17419023
|
0.00508
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=)
|
rs147433902
|
0.00507
|
NM_005045.4(RELN):c.6084C>T (p.Gly2028=)
|
rs114019779
|
0.00507
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)
|
rs117061430
|
0.00506
|
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe)
|
rs113470661
|
0.00506
|
NM_012254.3(SLC27A5):c.2006C>G (p.Ala669Gly)
|
rs145618122
|
0.00506
|
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=)
|
rs139587368
|
0.00506
|
NM_000038.6(APC):c.532-32T>C
|
rs112108777
|
0.00505
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
NM_000369.5(TSHR):c.106G>C (p.Asp36His)
|
rs61747482
|
0.00505
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
NM_000744.7(CHRNA4):c.76+18G>T
|
rs199908363
|
0.00504
|
NM_001177316.2(SLC34A3):c.779G>A (p.Ser260Asn)
|
rs142918575
|
0.00504
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
NM_032578.4(MYPN):c.1134C>T (p.Ile378=)
|
rs145701607
|
0.00504
|
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)
|
rs79970751
|
0.00503
|
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His)
|
rs112010940
|
0.00503
|
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser)
|
rs113897824
|
0.00503
|
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys)
|
rs77303974
|
0.00503
|
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)
|
rs61731465
|
0.00502
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)
|
rs147404470
|
0.00501
|
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu)
|
rs114918858
|
0.00501
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)
|
rs61876771
|
0.00500
|
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)
|
rs72782753
|
0.00500
|
NM_003476.5(CSRP3):c.213C>T (p.Ile71=)
|
rs45476991
|
0.00499
|
NM_020223.4(FAM20C):c.646G>A (p.Gly216Arg)
|
rs61734970
|
0.00499
|
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)
|
rs56056823
|
0.00499
|
NM_000843.4(GRM6):c.2092C>G (p.Leu698Val)
|
rs62638623
|
0.00498
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)
|
rs79087668
|
0.00498
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_006915.3(RP2):c.260C>T (p.Thr87Ile)
|
rs147783915
|
0.00496
|
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)
|
rs140785104
|
0.00496
|
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)
|
rs117609395
|
0.00495
|
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile)
|
rs61752970
|
0.00495
|
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)
|
rs149313666
|
0.00495
|
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)
|
rs138642043
|
0.00495
|
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr)
|
rs45441199
|
0.00494
|
NM_006158.5(NEFL):c.667C>T (p.Leu223=)
|
rs60156239
|
0.00494
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)
|
rs59286323
|
0.00493
|
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala)
|
rs75831573
|
0.00493
|
NM_000541.5(SAG):c.301G>A (p.Ala101Thr)
|
rs141521563
|
0.00492
|
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu)
|
rs17216670
|
0.00492
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)
|
rs114626713
|
0.00491
|
NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=)
|
rs35003467
|
0.00491
|
NM_006420.3(ARFGEF2):c.423+3A>G
|
rs2295029
|
0.00491
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)
|
rs56013867
|
0.00491
|
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=)
|
rs45624933
|
0.00490
|
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser)
|
rs145178162
|
0.00490
|
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=)
|
rs372634401
|
0.00490
|
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys)
|
rs144665682
|
0.00490
|
NM_000377.3(WAS):c.995T>C (p.Val332Ala)
|
rs2737799
|
0.00489
|
NM_001164405.2(BHLHA9):c.116C>A (p.Ala39Glu)
|
rs551239535
|
0.00489
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_000202.8(IDS):c.925A>G (p.Thr309Ala)
|
rs145807417
|
0.00488
|
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)
|
rs79544660
|
0.00488
|
NM_006306.4(SMC1A):c.699G>A (p.Val233=)
|
rs145319852
|
0.00488
|
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=)
|
rs113849788
|
0.00488
|
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)
|
rs17849927
|
0.00488
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750
|
0.00488
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met)
|
rs34830061
|
0.00488
|
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=)
|
rs111033378
|
0.00488
|
NM_000080.4(CHRNE):c.*6A>G
|
rs55806270
|
0.00487
|
NM_001698.3(AUH):c.182C>A (p.Pro61His)
|
rs181327211
|
0.00487
|
NM_004999.4(MYO6):c.2982G>A (p.Glu994=)
|
rs55905349
|
0.00487
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)
|
rs147891446
|
0.00486
|
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser)
|
rs192628905
|
0.00486
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)
|
rs115958467
|
0.00486
|
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)
|
rs140403186
|
0.00485
|
NM_014425.5(INVS):c.725C>T (p.Ser242Leu)
|
rs2491097
|
0.00485
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys)
|
rs138139146
|
0.00483
|
NM_001374353.1(GLI2):c.720C>T (p.Asp240=)
|
rs142793481
|
0.00483
|
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=)
|
rs79313758
|
0.00483
|
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)
|
rs140065359
|
0.00482
|
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=)
|
rs116302604
|
0.00481
|
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu)
|
rs146866423
|
0.00481
|
NM_017950.4(CCDC40):c.630C>T (p.Ser210=)
|
rs117419007
|
0.00481
|
NM_004273.5(CHST3):c.561G>C (p.Val187=)
|
rs147804585
|
0.00480
|
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=)
|
rs61073355
|
0.00480
|
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)
|
rs145806603
|
0.00479
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp)
|
rs114203198
|
0.00479
|
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)
|
rs57865060
|
0.00478
|
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=)
|
rs116130182
|
0.00478
|
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=)
|
rs142315727
|
0.00478
|
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)
|
rs143312971
|
0.00478
|
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=)
|
rs12721379
|
0.00478
|
NM_018006.5(TRMU):c.387A>G (p.Ala129=)
|
rs144586525
|
0.00478
|
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=)
|
rs114241603
|
0.00477
|
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly)
|
rs61752484
|
0.00477
|
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr)
|
rs147727753
|
0.00476
|
NM_001377.3(DYNC2H1):c.3097-4A>G
|
rs368802969
|
0.00476
|
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)
|
rs1801710
|
0.00475
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)
|
rs117931394
|
0.00474
|
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=)
|
rs62427038
|
0.00474
|
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)
|
rs34211419
|
0.00473
|
NM_015295.3(SMCHD1):c.2147-7C>T
|
rs113524119
|
0.00473
|
NM_198506.5(LRIT3):c.1621A>G (p.Ile541Val)
|
rs35997283
|
0.00473
|
NM_000451.4(SHOX):c.63C>T (p.Gly21=)
|
rs142306835
|
0.00472
|
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys)
|
rs61758995
|
0.00472
|
NM_001330078.2(NRXN1):c.1760-16C>T
|
rs79422704
|
0.00472
|
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)
|
rs146292575
|
0.00472
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr)
|
rs144830740
|
0.00471
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
NM_133642.5(LARGE1):c.892+50C>T
|
rs62225294
|
0.00471
|
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)
|
rs62346982
|
0.00470
|
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)
|
rs41289636
|
0.00470
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
NM_001379286.1(ZNF423):c.1986C>T (p.His662=)
|
rs75294107
|
0.00469
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)
|
rs113803159
|
0.00468
|
NM_005045.4(RELN):c.3712A>C (p.Asn1238His)
|
rs114003896
|
0.00468
|
NM_000407.5(GP1BB):c.399C>T (p.Ala133=)
|
rs142352780
|
0.00467
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=)
|
rs61752503
|
0.00467
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868
|
0.00467
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)
|
rs757355779
|
0.00466
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile)
|
rs146467786
|
0.00465
|
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe)
|
rs146207623
|
0.00465
|
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=)
|
rs61739663
|
0.00465
|
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg)
|
rs139854607
|
0.00464
|
NM_001130987.2(DYSF):c.777C>T (p.Ile259=)
|
rs138054675
|
0.00464
|
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)
|
rs182322608
|
0.00464
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
NM_006013.5(RPL10):c.23+9T>A
|
rs2070820
|
0.00463
|
NM_006182.4(DDR2):c.408T>C (p.His136=)
|
rs2271305
|
0.00463
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val)
|
rs77539990
|
0.00463
|
NM_014845.6(FIG4):c.66+10C>T
|
rs200063827
|
0.00462
|
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys)
|
rs200842904
|
0.00462
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_001035.3(RYR2):c.1863C>T (p.His621=)
|
rs17686573
|
0.00461
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His)
|
rs150598363
|
0.00461
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_005529.7(HSPG2):c.1998+9C>T
|
rs377228309
|
0.00461
|
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)
|
rs140374206
|
0.00461
|
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=)
|
rs146387723
|
0.00460
|
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His)
|
rs200351672
|
0.00460
|
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)
|
rs75639119
|
0.00460
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)
|
rs34563188
|
0.00460
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_001386795.1(DTNA):c.210G>A (p.Leu70=)
|
rs117571555
|
0.00459
|
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser)
|
rs78690642
|
0.00459
|
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile)
|
rs56086732
|
0.00458
|
NM_006269.2(RP1):c.616-6T>C
|
rs186571865
|
0.00458
|
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
|
rs118066140
|
0.00457
|
NM_004369.4(COL6A3):c.6592-27del
|
rs60436236
|
0.00457
|
NM_000540.3(RYR1):c.11034+20G>T
|
rs186460831
|
0.00456
|
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)
|
rs116401889
|
0.00456
|
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)
|
rs115166595
|
0.00455
|
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser)
|
rs144634857
|
0.00455
|
NM_130839.5(UBE3A):c.2124+9T>C
|
rs79328837
|
0.00454
|
NM_001193315.2(VIPAS39):c.1242G>A (p.Leu414=)
|
rs45447095
|
0.00453
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)
|
rs111033338
|
0.00452
|
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470
|
0.00452
|
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)
|
rs75029862
|
0.00451
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu)
|
rs62156348
|
0.00451
|
NM_002471.4(MYH6):c.1989C>T (p.Asn663=)
|
rs28730774
|
0.00451
|
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=)
|
rs12140044
|
0.00451
|
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)
|
rs116826217
|
0.00451
|
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp)
|
rs61744639
|
0.00451
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00450
|
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=)
|
rs3027888
|
0.00450
|
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)
|
rs61757684
|
0.00449
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile)
|
rs114629728
|
0.00449
|
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=)
|
rs34854594
|
0.00449
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser)
|
rs114364265
|
0.00448
|
NM_001360.3(DHCR7):c.1008C>T (p.His336=)
|
rs75225632
|
0.00447
|
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
|
rs140463385
|
0.00447
|
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=)
|
rs112864477
|
0.00446
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=)
|
rs142259966
|
0.00445
|
NM_000492.4(CFTR):c.3718-2530A>G
|
rs213990
|
0.00445
|
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)
|
rs35647984
|
0.00445
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr)
|
rs141639885
|
0.00444
|
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln)
|
rs34161789
|
0.00444
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_138959.3(VANGL1):c.435T>C (p.Cys145=)
|
rs34768472
|
0.00443
|
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)
|
rs187783545
|
0.00443
|
NM_014000.3(VCL):c.1317T>C (p.Ser439=)
|
rs71579355
|
0.00442
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)
|
rs41300676
|
0.00441
|
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=)
|
rs149639365
|
0.00441
|
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met)
|
rs377665141
|
0.00440
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln)
|
rs188076386
|
0.00439
|
NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg)
|
rs142411445
|
0.00438
|
NM_001384140.1(PCDH15):c.4671+1087C>T
|
rs12359240
|
0.00438
|
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)
|
rs111231885
|
0.00438
|
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser)
|
rs112906840
|
0.00438
|
NM_007214.5(SEC63):c.340-12G>T
|
rs2064201
|
0.00438
|
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)
|
rs61750615
|
0.00437
|
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys)
|
rs62224222
|
0.00437
|
NM_012254.3(SLC27A5):c.1616T>C (p.Met539Thr)
|
rs147464959
|
0.00437
|
NM_016239.4(MYO15A):c.1941A>C (p.Pro647=)
|
rs537016494
|
0.00437
|
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)
|
rs138628273
|
0.00437
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_001170629.2(CHD8):c.27C>T (p.Phe9=)
|
rs75191413
|
0.00436
|
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=)
|
rs147426569
|
0.00436
|
NM_002473.6(MYH9):c.1083C>T (p.Asp361=)
|
rs56001030
|
0.00436
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_001319074.4(RAX2):c.45T>G (p.Gly15=)
|
rs139127905
|
0.00435
|
NM_002693.3(POLG):c.-80C>T
|
rs3087378
|
0.00435
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)
|
rs61751545
|
0.00435
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)
|
rs28384988
|
0.00434
|
NM_005562.3(LAMC2):c.2754+9T>C
|
rs113467864
|
0.00434
|
NM_194248.3(OTOF):c.2215-19C>G
|
rs111033427
|
0.00434
|
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)
|
rs181733689
|
0.00433
|
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)
|
rs114750216
|
0.00432
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)
|
rs35851478
|
0.00429
|
NM_002857.4(PEX19):c.771+3A>G
|
rs141133579
|
0.00429
|
NM_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919
|
0.00429
|
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)
|
rs138259457
|
0.00428
|
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met)
|
rs41280330
|
0.00428
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_006129.5(BMP1):c.1112G>A (p.Arg371His)
|
rs145284541
|
0.00427
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met)
|
rs186848953
|
0.00427
|
NM_001291415.2(KDM6A):c.3834T>C (p.His1278=)
|
rs138989066
|
0.00426
|
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=)
|
rs116343553
|
0.00426
|
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=)
|
rs117771893
|
0.00426
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000186.4(CFH):c.2850G>T (p.Gln950His)
|
rs149474608
|
0.00425
|
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys)
|
rs146461956
|
0.00424
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)
|
rs191736346
|
0.00423
|
NM_181486.4(TBX5):c.787G>A (p.Val263Met)
|
rs147405081
|
0.00423
|
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp)
|
rs141865394
|
0.00423
|
NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=)
|
rs200451188
|
0.00422
|
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=)
|
rs140004449
|
0.00422
|
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)
|
rs61741524
|
0.00422
|
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr)
|
rs147688306
|
0.00422
|
NM_153252.5(BRWD3):c.33G>A (p.Glu11=)
|
rs139071237
|
0.00422
|
NM_001127671.2(LIFR):c.954C>T (p.Thr318=)
|
rs61748202
|
0.00421
|
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=)
|
rs61529674
|
0.00421
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_002768.5(CHMP1A):c.27+10G>A
|
rs140547967
|
0.00420
|
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile)
|
rs149244006
|
0.00420
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_021072.4(HCN1):c.1797A>G (p.Ser599=)
|
rs148932124
|
0.00419
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)
|
rs78795178
|
0.00417
|
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=)
|
rs199689791
|
0.00417
|
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)
|
rs34324114
|
0.00417
|
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser)
|
rs199760004
|
0.00417
|
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr)
|
rs117802609
|
0.00417
|
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu)
|
rs35811023
|
0.00416
|
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=)
|
rs116537677
|
0.00415
|
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=)
|
rs75413741
|
0.00415
|
NM_012448.4(STAT5B):c.247C>T (p.Leu83=)
|
rs146176992
|
0.00415
|
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
|
rs143070183
|
0.00415
|
NM_000141.5(FGFR2):c.159G>A (p.Ala53=)
|
rs1047102
|
0.00414
|
NM_000426.4(LAMA2):c.3556-15T>G
|
rs17741922
|
0.00414
|
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)
|
rs61735357
|
0.00414
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)
|
rs115004914
|
0.00414
|
NM_001458.5(FLNC):c.1902G>A (p.Glu634=)
|
rs12536635
|
0.00414
|
NM_031448.6(C19orf12):c.69G>A (p.Ala23=)
|
rs201118405
|
0.00414
|
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)
|
rs149459739
|
0.00414
|
NM_181332.3(NLGN4X):c.558C>T (p.Asp186=)
|
rs145911431
|
0.00414
|
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=)
|
rs56245532
|
0.00414
|
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)
|
rs72549416
|
0.00413
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)
|
rs61753725
|
0.00412
|
NM_000747.3(CHRNB1):c.342G>A (p.Val114=)
|
rs75019736
|
0.00411
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)
|
rs139904931
|
0.00411
|
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=)
|
rs34990188
|
0.00411
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val)
|
rs118056333
|
0.00410
|
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr)
|
rs148772854
|
0.00409
|
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)
|
rs138886378
|
0.00409
|
NM_014249.4(NR2E3):c.245+8C>T
|
rs9920371
|
0.00409
|
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)
|
rs111033476
|
0.00408
|
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=)
|
rs150027129
|
0.00408
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00407
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=)
|
rs112968165
|
0.00406
|
NM_007254.4(PNKP):c.1032G>A (p.Arg344=)
|
rs185452809
|
0.00406
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala)
|
rs150918383
|
0.00405
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_000747.3(CHRNB1):c.1045-6C>G
|
rs79209506
|
0.00404
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His)
|
rs35106300
|
0.00404
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_016013.4(NDUFAF1):c.-6T>G
|
rs180730324
|
0.00404
|
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser)
|
rs137876961
|
0.00404
|
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=)
|
rs115735672
|
0.00404
|
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=)
|
rs146381488
|
0.00404
|
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg)
|
rs146704802
|
0.00404
|
NM_206933.4(USH2A):c.8937A>G (p.Val2979=)
|
rs139100097
|
0.00404
|
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)
|
rs146789160
|
0.00403
|
NM_005634.3(SOX3):c.157G>C (p.Val53Leu)
|
rs200361128
|
0.00403
|
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp)
|
rs144610086
|
0.00403
|
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=)
|
rs142243054
|
0.00402
|
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly)
|
rs117480926
|
0.00402
|
NM_020184.4(CNNM4):c.399G>A (p.Val133=)
|
rs34147094
|
0.00402
|
NM_000203.5(IDUA):c.1190-17_1190-16insA
|
rs201559436
|
0.00401
|
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)
|
rs55761650
|
0.00401
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00401
|
NM_001848.3(COL6A1):c.1335+20G>C
|
rs9306146
|
0.00401
|
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=)
|
rs191649793
|
0.00401
|
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr)
|
rs62641756
|
0.00401
|
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg)
|
rs201621696
|
0.00400
|
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)
|
rs56169243
|
0.00400
|
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=)
|
rs186670912
|
0.00400
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=)
|
rs116601686
|
0.00399
|
NM_004595.5(SMS):c.1026A>C (p.Ser342=)
|
rs61732077
|
0.00399
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_000515.5(GH1):c.150C>A (p.Ala50=)
|
rs61735359
|
0.00398
|
NM_001376256.1(CRYM):c.807T>C (p.Phe269=)
|
rs144588424
|
0.00398
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00398
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)
|
rs141340867
|
0.00398
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00397
|
NM_145167.3(PIGM):c.6C>T (p.Gly2=)
|
rs61757715
|
0.00397
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val)
|
rs113716915
|
0.00396
|
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr)
|
rs55814513
|
0.00396
|
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)
|
rs139367209
|
0.00396
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=)
|
rs145677050
|
0.00395
|
NM_001701.4(BAAT):c.951G>A (p.Gln317=)
|
rs61756326
|
0.00395
|
NM_006158.5(NEFL):c.1275C>T (p.Gly425=)
|
rs114329068
|
0.00395
|
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=)
|
rs140861713
|
0.00395
|
NM_003482.4(KMT2D):c.8064G>A (p.Glu2688=)
|
rs148457961
|
0.00394
|
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)
|
rs35225609
|
0.00394
|
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)
|
rs147452898
|
0.00394
|
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=)
|
rs140248383
|
0.00393
|
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp)
|
rs76537761
|
0.00392
|
NM_004369.4(COL6A3):c.4285+17G>A
|
rs3791000
|
0.00392
|
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=)
|
rs113074898
|
0.00392
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
NM_001551.3(IGBP1):c.608T>C (p.Ile203Thr)
|
rs61755732
|
0.00391
|
NM_012418.4(FSCN2):c.150C>G (p.Pro50=)
|
rs184519759
|
0.00391
|
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)
|
rs45608240
|
0.00391
|
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe)
|
rs76014951
|
0.00391
|
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)
|
rs201586455
|
0.00391
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr)
|
rs35348691
|
0.00390
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser)
|
rs147542347
|
0.00389
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro)
|
rs147947060
|
0.00389
|
NM_002335.4(LRP5):c.4000+9C>T
|
rs148685646
|
0.00389
|
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)
|
rs35227432
|
0.00389
|
NM_006005.3(WFS1):c.917T>C (p.Met306Thr)
|
rs146114074
|
0.00389
|
NM_006208.3(ENPP1):c.313+10del
|
rs778260177
|
0.00389
|
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys)
|
rs41276187
|
0.00389
|
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)
|
rs148990271
|
0.00389
|
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr)
|
rs182595458
|
0.00389
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile)
|
rs111859552
|
0.00388
|
NM_006899.5(IDH3B):c.117+6C>A
|
rs191680997
|
0.00388
|
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)
|
rs149670417
|
0.00388
|
NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=)
|
rs11573942
|
0.00387
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=)
|
rs201531206
|
0.00386
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_181332.3(NLGN4X):c.2280C>T (p.Tyr760=)
|
rs75350246
|
0.00384
|
NM_000052.7(ATP7A):c.4226+11T>C
|
rs200009243
|
0.00383
|
NM_000550.3(TYRP1):c.977G>A (p.Arg326His)
|
rs16929374
|
0.00383
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)
|
rs41288017
|
0.00383
|
NM_001379110.1(SLC9A6):c.-57+50G>T
|
rs201523857
|
0.00383
|
NM_003392.7(WNT5A):c.588C>T (p.Phe196=)
|
rs200868061
|
0.00383
|
NM_001004334.4(GPR179):c.3847C>T (p.Pro1283Ser)
|
rs150125328
|
0.00382
|
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)
|
rs77357563
|
0.00382
|
NM_006790.3(MYOT):c.1008G>T (p.Val336=)
|
rs142828368
|
0.00381
|
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)
|
rs190981860
|
0.00381
|
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=)
|
rs141424852
|
0.00381
|
NM_001194998.2(CEP152):c.4094-9A>T
|
rs80090788
|
0.00380
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
NM_000057.4(BLM):c.1722A>G (p.Leu574=)
|
rs28385011
|
0.00379
|
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)
|
rs199646135
|
0.00379
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)
|
rs139432601
|
0.00379
|
NM_014008.5(CCDC22):c.1163G>A (p.Arg388His)
|
rs113045747
|
0.00379
|
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=)
|
rs376497158
|
0.00379
|
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350
|
0.00379
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser)
|
rs35045430
|
0.00378
|
NM_000875.5(IGF1R):c.1950G>T (p.Arg650=)
|
rs56294552
|
0.00378
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=)
|
rs145837095
|
0.00378
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892
|
0.00378
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn)
|
rs112306225
|
0.00377
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=)
|
rs139428189
|
0.00376
|
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile)
|
rs115399307
|
0.00376
|
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)
|
rs144567556
|
0.00376
|
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=)
|
rs147268650
|
0.00376
|
NM_000327.4(ROM1):c.686G>A (p.Arg229His)
|
rs150168119
|
0.00375
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
NM_003835.4(RGS9):c.495G>A (p.Gln165=)
|
rs147874330
|
0.00375
|
NM_017534.6(MYH2):c.4989G>A (p.Leu1663=)
|
rs61736461
|
0.00375
|
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)
|
rs41313282
|
0.00375
|
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)
|
rs61764067
|
0.00375
|
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
|
rs2723669
|
0.00374
|
NM_000843.4(GRM6):c.504+20G>C
|
rs572890701
|
0.00374
|
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)
|
rs148197254
|
0.00374
|
NM_201384.3(PLEC):c.6513G>A (p.Lys2171=)
|
rs184102912
|
0.00374
|
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro)
|
rs115832709
|
0.00373
|
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln)
|
rs78889849
|
0.00373
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)
|
rs144511230
|
0.00372
|
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)
|
rs45586138
|
0.00372
|
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)
|
rs145199539
|
0.00372
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)
|
rs199839743
|
0.00372
|
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe)
|
rs143691289
|
0.00371
|
NM_000271.5(NPC1):c.1947+14_1947+15insC
|
rs201170241
|
0.00371
|
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)
|
rs141756032
|
0.00371
|
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)
|
rs142178073
|
0.00371
|
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=)
|
rs200278694
|
0.00371
|
NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr)
|
rs61755050
|
0.00371
|
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)
|
rs36078464
|
0.00371
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)
|
rs201593811
|
0.00370
|
NM_024915.4(GRHL2):c.1098+9C>T
|
rs189993760
|
0.00370
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)
|
rs149309844
|
0.00369
|
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val)
|
rs142729495
|
0.00369
|
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn)
|
rs149202379
|
0.00369
|
NM_001015880.2(PAPSS2):c.375C>T (p.Phe125=)
|
rs145230931
|
0.00368
|
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn)
|
rs111033494
|
0.00368
|
NM_005122.5(NR1I3):c.930G>A (p.Ala310=)
|
rs36017137
|
0.00367
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)
|
rs149775942
|
0.00366
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro)
|
rs148900528
|
0.00366
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)
|
rs55940366
|
0.00365
|
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)
|
rs187333111
|
0.00365
|
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00365
|
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys)
|
rs145595957
|
0.00365
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)
|
rs79572315
|
0.00364
|
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=)
|
rs142639517
|
0.00364
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
NM_001164508.2(NEB):c.1413C>T (p.Phe471=)
|
rs112958786
|
0.00363
|
NM_001453.3(FOXC1):c.502C>T (p.Leu168=)
|
rs148739656
|
0.00363
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_002892.4(ARID4A):c.3211+1G>A
|
rs62621193
|
0.00363
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)
|
rs9282671
|
0.00362
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_021072.4(HCN1):c.140G>T (p.Gly47Val)
|
rs544994462
|
0.00362
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)
|
rs2229860
|
0.00361
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_001457.4(FLNB):c.2382C>T (p.Asp794=)
|
rs146159035
|
0.00360
|
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=)
|
rs141724499
|
0.00360
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000360.4(TH):c.267G>A (p.Arg89=)
|
rs76240471
|
0.00359
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)
|
rs112350099
|
0.00359
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=)
|
rs141225367
|
0.00359
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00359
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala)
|
rs141464488
|
0.00359
|
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00358
|
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)
|
rs147027229
|
0.00358
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)
|
rs143179070
|
0.00358
|
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=)
|
rs150900416
|
0.00357
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)
|
rs34491822
|
0.00357
|
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn)
|
rs75467696
|
0.00357
|
NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
|
rs116514447
|
0.00357
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)
|
rs2227944
|
0.00356
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser)
|
rs3827462
|
0.00356
|
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)
|
rs74447004
|
0.00356
|
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)
|
rs148509395
|
0.00356
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)
|
rs2227943
|
0.00355
|
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu)
|
rs17222561
|
0.00355
|
NM_006486.3(FBLN1):c.1441+9G>A
|
rs142798380
|
0.00355
|
NM_201596.3(CACNB2):c.873G>A (p.Leu291=)
|
rs138423466
|
0.00355
|
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr)
|
rs11547387
|
0.00354
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=)
|
rs375709463
|
0.00354
|
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)
|
rs115631125
|
0.00354
|
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)
|
rs72648964
|
0.00354
|
NM_001379180.1(ESRRB):c.*1474T>C
|
rs188462546
|
0.00354
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)
|
rs56002719
|
0.00354
|
NM_017668.3(NDE1):c.486C>T (p.Leu162=)
|
rs140251634
|
0.00354
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995
|
0.00354
|
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)
|
rs111293777
|
0.00354
|
NM_004260.4(RECQL4):c.543G>A (p.Gln181=)
|
rs34159914
|
0.00353
|
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=)
|
rs113066678
|
0.00353
|
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
|
rs78042826
|
0.00353
|
NM_007254.4(PNKP):c.783G>A (p.Pro261=)
|
rs145307985
|
0.00353
|
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu)
|
rs2233061
|
0.00353
|
NM_000195.5(HPS1):c.*12C>T
|
rs112544050
|
0.00352
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)
|
rs41313697
|
0.00352
|
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)
|
rs144372453
|
0.00352
|
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg)
|
rs146329532
|
0.00352
|
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val)
|
rs200575377
|
0.00352
|
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)
|
rs9282543
|
0.00352
|
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)
|
rs150677536
|
0.00351
|
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=)
|
rs2228074
|
0.00351
|
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)
|
rs149028586
|
0.00351
|
NM_000208.4(INSR):c.2193G>A (p.Thr731=)
|
rs6413501
|
0.00350
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)
|
rs45548237
|
0.00350
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)
|
rs552420470
|
0.00350
|
NM_021939.4(FKBP10):c.504C>T (p.Pro168=)
|
rs113640022
|
0.00350
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)
|
rs115784602
|
0.00349
|
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=)
|
rs148902254
|
0.00349
|
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)
|
rs17027133
|
0.00349
|
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=)
|
rs115163637
|
0.00349
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00348
|
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr)
|
rs146416468
|
0.00348
|
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala)
|
rs117271684
|
0.00348
|
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu)
|
rs118098246
|
0.00348
|
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)
|
rs77706858
|
0.00348
|
NM_000048.4(ASL):c.556C>A (p.Arg186=)
|
rs111407265
|
0.00347
|
NM_000501.4(ELN):c.892G>A (p.Val298Ile)
|
rs41526244
|
0.00347
|
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln)
|
rs114351116
|
0.00347
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=)
|
rs114554195
|
0.00347
|
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
|
rs144983062
|
0.00347
|
NM_002693.3(POLG):c.1126C>T (p.Leu376=)
|
rs116165908
|
0.00347
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn)
|
rs114223739
|
0.00347
|
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355
|
0.00347
|
NM_000057.4(BLM):c.893C>T (p.Thr298Met)
|
rs28384991
|
0.00346
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)
|
rs34534613
|
0.00346
|
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp)
|
rs117048449
|
0.00346
|
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala)
|
rs115786671
|
0.00346
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
NM_000666.3(ACY1):c.1178G>A (p.Arg393His)
|
rs121912701
|
0.00345
|
NM_002618.4(PEX13):c.-6G>C
|
rs147461642
|
0.00345
|
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys)
|
rs61731011
|
0.00345
|
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu)
|
rs146076380
|
0.00345
|
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=)
|
rs117237998
|
0.00345
|
NM_000261.2(MYOC):c.855G>T (p.Thr285=)
|
rs146606638
|
0.00344
|
NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=)
|
rs79374915
|
0.00344
|
NM_003816.3(ADAM9):c.226G>A (p.Glu76Lys)
|
rs61753672
|
0.00344
|
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)
|
rs146172074
|
0.00344
|
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His)
|
rs34067949
|
0.00344
|
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu)
|
rs35219594
|
0.00344
|
NM_031433.4(MFRP):c.629G>T (p.Gly210Val)
|
rs150902999
|
0.00344
|
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)
|
rs145809663
|
0.00344
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00343
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
NM_001849.4(COL6A2):c.510C>T (p.Cys170=)
|
rs142328765
|
0.00343
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
CYP2C9*5
|
rs28371686
|
0.00342
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val)
|
rs115279465
|
0.00342
|
NM_001165967.2(HES7):c.591C>T (p.Pro197=)
|
rs558811781
|
0.00342
|
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=)
|
rs148674729
|
0.00342
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_001793.6(CDH3):c.805A>C (p.Met269Leu)
|
rs36038900
|
0.00341
|
NM_001849.4(COL6A2):c.1116+22C>T
|
rs111592472
|
0.00341
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)
|
rs79724242
|
0.00341
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455
|
0.00341
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)
|
rs73198165
|
0.00341
|
NM_194248.3(OTOF):c.2215-77T>G
|
rs76130130
|
0.00341
|
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)
|
rs5743277
|
0.00340
|
NM_012254.3(SLC27A5):c.641C>T (p.Ala214Val)
|
rs113904799
|
0.00340
|
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)
|
rs56356283
|
0.00340
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=)
|
rs114766691
|
0.00339
|
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=)
|
rs145588542
|
0.00339
|
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=)
|
rs35911211
|
0.00339
|
NM_006059.4(LAMC3):c.2891-8C>T
|
rs199535979
|
0.00339
|
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=)
|
rs144513373
|
0.00339
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=)
|
rs34623939
|
0.00337
|
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)
|
rs116413446
|
0.00337
|
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
|
rs116131367
|
0.00337
|
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)
|
rs139600783
|
0.00337
|
NM_031433.4(MFRP):c.641+9C>T
|
rs189840088
|
0.00337
|
NM_031935.3(HMCN1):c.114G>T (p.Gly38=)
|
rs115169621
|
0.00337
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228
|
0.00336
|
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)
|
rs116204385
|
0.00336
|
NM_001146079.2(CLDN14):c.*10G>C
|
rs139628442
|
0.00336
|
NM_001540.5(HSPB1):c.9G>A (p.Glu3=)
|
rs77586767
|
0.00336
|
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)
|
rs56165709
|
0.00336
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00335
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_021116.4(ADCY1):c.2327+6T>A
|
rs75860455
|
0.00335
|
NM_175875.5(SIX5):c.732G>A (p.Gln244=)
|
rs141944211
|
0.00335
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_001012720.2(RGR):c.744+5A>G
|
rs143720091
|
0.00334
|
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)
|
rs201059992
|
0.00334
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00334
|
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=)
|
rs150435442
|
0.00334
|
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)
|
rs115776799
|
0.00334
|
NM_014008.5(CCDC22):c.536-7C>T
|
rs191605685
|
0.00334
|
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys)
|
rs115088000
|
0.00334
|
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)
|
rs141477666
|
0.00334
|
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=)
|
rs115854664
|
0.00333
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=)
|
rs144376972
|
0.00333
|
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)
|
rs151078549
|
0.00333
|
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=)
|
rs140922974
|
0.00333
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_001077365.2(POMT1):c.1585-14C>T
|
rs78529026
|
0.00332
|
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr)
|
rs72648923
|
0.00332
|
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val)
|
rs145975461
|
0.00332
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000245.4(MET):c.-14-4G>A
|
rs144126521
|
0.00331
|
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)
|
rs142672241
|
0.00331
|
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu)
|
rs140848350
|
0.00331
|
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)
|
rs55857552
|
0.00330
|
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=)
|
rs148104020
|
0.00330
|
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)
|
rs187947581
|
0.00330
|
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)
|
rs77351928
|
0.00330
|
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg)
|
rs184879368
|
0.00330
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_000493.4(COL10A1):c.23T>G (p.Leu8Trp)
|
rs34539681
|
0.00329
|
NM_000900.5(MGP):c.157A>G (p.Lys53Glu)
|
rs1801716
|
0.00329
|
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)
|
rs148193087
|
0.00329
|
NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly)
|
rs61845768
|
0.00329
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln)
|
rs146886108
|
0.00329
|
NM_201384.3(PLEC):c.8445T>C (p.Val2815=)
|
rs371421350
|
0.00329
|
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=)
|
rs4647928
|
0.00328
|
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn)
|
rs34018300
|
0.00328
|
NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile)
|
rs73000144
|
0.00328
|
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile)
|
rs143898031
|
0.00328
|
NM_022350.5(ERAP2):c.1232T>G (p.Leu411Arg)
|
rs34261036
|
0.00328
|
NM_024596.5(MCPH1):c.477A>T (p.Ser159=)
|
rs41313948
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)
|
rs192003811
|
0.00327
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00327
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
NM_004817.4(TJP2):c.2992-8C>T
|
rs143965233
|
0.00327
|
NM_206933.4(USH2A):c.15297+3A>G
|
rs57754754
|
0.00327
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
0.00326
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp)
|
rs145292219
|
0.00326
|
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=)
|
rs200006106
|
0.00326
|
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp)
|
rs200575795
|
0.00326
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn)
|
rs79294840
|
0.00325
|
NM_001032221.6(STXBP1):c.247-8A>G
|
rs199827018
|
0.00325
|
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=)
|
rs146059306
|
0.00325
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=)
|
rs151080601
|
0.00325
|
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
|
rs114764023
|
0.00325
|
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=)
|
rs138775857
|
0.00325
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)
|
rs150814269
|
0.00324
|
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)
|
rs181769913
|
0.00324
|
NM_001164508.2(NEB):c.1675-9T>G
|
rs75118047
|
0.00324
|
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)
|
rs184639841
|
0.00324
|
NM_014244.5(ADAMTS2):c.2751-4G>A
|
rs112155474
|
0.00324
|
NM_024884.3(L2HGDH):c.6G>T (p.Val2=)
|
rs113626637
|
0.00324
|
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg)
|
rs41311625
|
0.00324
|
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)
|
rs57479434
|
0.00323
|
NM_001048166.1(STIL):c.1055G>A (p.Arg352His)
|
rs141678367
|
0.00323
|
NM_001130969.3(NSMF):c.1467C>T (p.Phe489=)
|
rs139341268
|
0.00323
|
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)
|
rs78540316
|
0.00323
|
NM_015909.4(NBAS):c.3217C>T (p.Arg1073Cys)
|
rs147322367
|
0.00323
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg)
|
rs61731464
|
0.00322
|
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
|
rs114137271
|
0.00322
|
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)
|
rs72646891
|
0.00322
|
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=)
|
rs112864468
|
0.00322
|
NM_001701.4(BAAT):c.409G>A (p.Val137Ile)
|
rs144591246
|
0.00322
|
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=)
|
rs12721430
|
0.00322
|
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)
|
rs55662069
|
0.00322
|
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)
|
rs113895168
|
0.00322
|
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)
|
rs138155747
|
0.00322
|
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)
|
rs73568217
|
0.00321
|
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)
|
rs144679294
|
0.00321
|
NM_001369268.1(ACAN):c.186C>T (p.Thr62=)
|
rs191648646
|
0.00321
|
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)
|
rs111866498
|
0.00321
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)
|
rs193257576
|
0.00321
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg)
|
rs35488756
|
0.00320
|
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=)
|
rs113568956
|
0.00320
|
NM_001365951.3(KIF1B):c.2115+7031T>C
|
rs149267056
|
0.00320
|
NM_004380.3(CREBBP):c.333C>T (p.Asn111=)
|
rs150229705
|
0.00320
|
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)
|
rs61749879
|
0.00320
|
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)
|
rs140903276
|
0.00320
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000540.3(RYR1):c.2415T>C (p.Pro805=)
|
rs141881325
|
0.00319
|
NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met)
|
rs115033462
|
0.00319
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_182914.3(SYNE2):c.11379T>C (p.Leu3793=)
|
rs149391344
|
0.00319
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
NM_004333.6(BRAF):c.1227A>G (p.Ser409=)
|
rs145035762
|
0.00318
|
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val)
|
rs142653846
|
0.00318
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)
|
rs140003804
|
0.00317
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)
|
rs199568537
|
0.00317
|
NM_004281.4(BAG3):c.181-9T>A
|
rs139232658
|
0.00317
|
NM_017534.6(MYH2):c.2295G>A (p.Gly765=)
|
rs79757188
|
0.00317
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_144508.5(KNL1):c.1129A>G (p.Ile377Val)
|
rs144726295
|
0.00317
|
NM_203486.3(DLL3):c.1307G>A (p.Arg436His)
|
rs199831437
|
0.00317
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00316
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_002693.3(POLG):c.134A>G (p.Gln45Arg)
|
rs201016638
|
0.00316
|
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly)
|
rs139646526
|
0.00316
|
NM_004369.4(COL6A3):c.7162+48G>A
|
rs112563876
|
0.00316
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918
|
0.00316
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_000117.3(EMD):c.144C>T (p.Leu48=)
|
rs200537612
|
0.00315
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr)
|
rs72861054
|
0.00315
|
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)
|
rs111558968
|
0.00315
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_001851.6(COL9A1):c.1288-4T>A
|
rs142431834
|
0.00315
|
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly)
|
rs61749614
|
0.00315
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)
|
rs115954396
|
0.00315
|
NM_172364.5(CACNA2D4):c.3310-8G>A
|
rs186998620
|
0.00315
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00314
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met)
|
rs143873938
|
0.00313
|
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=)
|
rs35134265
|
0.00313
|
NM_002979.5(SCP2):c.675-6T>C
|
rs115815213
|
0.00313
|
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg)
|
rs35101495
|
0.00313
|
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
|
rs143543800
|
0.00313
|
NM_025074.7(FRAS1):c.806G>A (p.Arg269Gln)
|
rs202231425
|
0.00313
|
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)
|
rs76794400
|
0.00313
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00312
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_000539.3(RHO):c.360C>T (p.Gly120=)
|
rs79765751
|
0.00312
|
NM_000540.3(RYR1):c.9685+16C>T
|
rs45496799
|
0.00312
|
NM_000875.5(IGF1R):c.225C>T (p.Phe75=)
|
rs55770488
|
0.00312
|
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val)
|
rs11552531
|
0.00312
|
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)
|
rs143766955
|
0.00312
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser)
|
rs145727304
|
0.00312
|
NM_007078.3(LDB3):c.147G>A (p.Val49=)
|
rs45591834
|
0.00312
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
NM_001114753.3(ENG):c.1510G>A (p.Val504Met)
|
rs116330805
|
0.00311
|
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr)
|
rs34080096
|
0.00311
|
NM_006790.3(MYOT):c.1190+7T>C
|
rs192405601
|
0.00311
|
NM_000036.3(AMPD1):c.99A>G (p.Gly33=)
|
rs61752480
|
0.00310
|
NM_000553.6(WRN):c.95A>G (p.Lys32Arg)
|
rs34477820
|
0.00310
|
NM_001032221.6(STXBP1):c.325+8C>T
|
rs117372398
|
0.00310
|
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)
|
rs111294536
|
0.00310
|
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=)
|
rs74324101
|
0.00310
|
NM_001277313.2(FMN1):c.2583A>G (p.Ala861=)
|
rs61740952
|
0.00310
|
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)
|
rs144486524
|
0.00310
|
NM_001848.3(COL6A1):c.1182+3G>A
|
rs62215499
|
0.00310
|
NM_004560.4(ROR2):c.937+10C>T
|
rs201083970
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_032634.4(PIGO):c.2268G>A (p.Ala756=)
|
rs149171782
|
0.00310
|
NM_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00309
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)
|
rs139266382
|
0.00309
|
NM_002471.4(MYH6):c.1071C>T (p.Ile357=)
|
rs58131640
|
0.00309
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=)
|
rs186591691
|
0.00309
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp)
|
rs146709251
|
0.00308
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu)
|
rs73973137
|
0.00308
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=)
|
rs1052029
|
0.00308
|
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=)
|
rs148735841
|
0.00308
|
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=)
|
rs189873733
|
0.00308
|
NM_205861.3(DHDDS):c.324-10C>T
|
rs144459149
|
0.00308
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)
|
rs56344740
|
0.00307
|
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)
|
rs150425546
|
0.00307
|
NM_002334.4(LRP4):c.1551T>C (p.Ala517=)
|
rs150777198
|
0.00307
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_004006.3(DMD):c.802T>C (p.Leu268=)
|
rs1800264
|
0.00307
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_005562.3(LAMC2):c.880C>T (p.Leu294=)
|
rs144572936
|
0.00307
|
NM_019032.6(ADAMTSL4):c.2969C>T (p.Thr990Met)
|
rs139784416
|
0.00307
|
NM_181741.4(ORC4):c.857C>T (p.Ala286Val)
|
rs75002266
|
0.00307
|
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr)
|
rs527804875
|
0.00307
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=)
|
rs35579821
|
0.00306
|
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)
|
rs539194350
|
0.00306
|
NM_001127671.2(LIFR):c.2498-7G>A
|
rs113078097
|
0.00306
|
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=)
|
rs146854507
|
0.00306
|
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)
|
rs61731477
|
0.00306
|
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg)
|
rs142066316
|
0.00306
|
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln)
|
rs112638391
|
0.00306
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln)
|
rs72646291
|
0.00306
|
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_001384140.1(PCDH15):c.3717+8G>C
|
rs200556301
|
0.00305
|
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His)
|
rs112062179
|
0.00305
|
NM_025114.4(CEP290):c.6960+10G>A
|
rs75011402
|
0.00305
|
NM_001039141.3(TRIOBP):c.2105A>G (p.Gln702Arg)
|
rs202079450
|
0.00304
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_001111.5(ADAR):c.2553C>T (p.Cys851=)
|
rs138927668
|
0.00304
|
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)
|
rs190664764
|
0.00304
|
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=)
|
rs2228348
|
0.00304
|
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr)
|
rs148261231
|
0.00304
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr)
|
rs115123584
|
0.00303
|
NM_000397.4(CYBB):c.654C>A (p.Gly218=)
|
rs35080474
|
0.00303
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)
|
rs188101277
|
0.00303
|
NM_004484.4(GPC3):c.1167-8T>C
|
rs182950534
|
0.00303
|
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile)
|
rs147034750
|
0.00303
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)
|
rs149671008
|
0.00302
|
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)
|
rs116827211
|
0.00302
|
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)
|
rs148291156
|
0.00302
|
NM_001918.5(DBT):c.76T>C (p.Cys26Arg)
|
rs145674833
|
0.00302
|
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=)
|
rs35648048
|
0.00302
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00302
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
NM_005591.4(MRE11):c.771A>G (p.Glu257=)
|
rs13447632
|
0.00301
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln)
|
rs148346044
|
0.00301
|
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys)
|
rs2857824
|
0.00301
|
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys)
|
rs114610092
|
0.00300
|
NM_000515.5(GH1):c.363T>A (p.Ser121Arg)
|
rs137882374
|
0.00300
|
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=)
|
rs199779296
|
0.00300
|
NM_001110219.3(GJB6):c.489G>A (p.Leu163=)
|
rs35002004
|
0.00300
|
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser)
|
rs114807343
|
0.00300
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys)
|
rs187484645
|
0.00299
|
NM_001130823.3(DNMT1):c.891+8C>T
|
rs117294281
|
0.00299
|
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)
|
rs201207627
|
0.00299
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00299
|
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser)
|
rs115957676
|
0.00299
|
NM_014908.4(DOLK):c.186G>A (p.Arg62=)
|
rs148171062
|
0.00299
|
NM_020361.5(CPA6):c.975A>G (p.Ala325=)
|
rs138313759
|
0.00299
|
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)
|
rs142013761
|
0.00299
|
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=)
|
rs116446814
|
0.00299
|
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=)
|
rs74160613
|
0.00298
|
NM_000144.5(FXN):c.626A>G (p.Asp209Gly)
|
rs74621026
|
0.00298
|
NM_000426.4(LAMA2):c.675C>T (p.Ala225=)
|
rs139665175
|
0.00298
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)
|
rs112337765
|
0.00297
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=)
|
rs28730858
|
0.00297
|
NM_001458.5(FLNC):c.1425C>T (p.Asn475=)
|
rs143610360
|
0.00297
|
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala)
|
rs34972246
|
0.00297
|
NM_002900.3(RBP3):c.1631G>A (p.Arg544His)
|
rs41284962
|
0.00297
|
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser)
|
rs62620041
|
0.00297
|
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=)
|
rs201119371
|
0.00297
|
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=)
|
rs3737682
|
0.00297
|
NM_014714.4(IFT140):c.1541T>A (p.Leu514His)
|
rs150903791
|
0.00297
|
NM_014714.4(IFT140):c.1542C>A (p.Leu514=)
|
rs141542834
|
0.00297
|
NM_020066.5(FMN2):c.1352T>A (p.Leu451Gln)
|
rs145379416
|
0.00297
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_001324144.2(ZNF41):c.590A>G (p.Lys197Arg)
|
rs148585367
|
0.00296
|
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)
|
rs139721775
|
0.00296
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_001848.3(COL6A1):c.1612-6C>T
|
rs143812383
|
0.00296
|
NM_007126.5(VCP):c.1704A>G (p.Gln568=)
|
rs142577424
|
0.00296
|
NM_020549.5(CHAT):c.1135G>C (p.Asp379His)
|
rs115212829
|
0.00296
|
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=)
|
rs114854941
|
0.00296
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)
|
rs34439033
|
0.00295
|
NM_001267550.2(TTN):c.2765G>A (p.Arg922His)
|
rs56046320
|
0.00295
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)
|
rs113651939
|
0.00295
|
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr)
|
rs202076833
|
0.00295
|
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr)
|
rs148076109
|
0.00295
|
NM_004527.4(MEOX1):c.126G>A (p.Pro42=)
|
rs141693578
|
0.00295
|
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00295
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu)
|
rs201823490
|
0.00294
|
NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln)
|
rs200424850
|
0.00294
|
NM_014762.4(DHCR24):c.81C>T (p.Leu27=)
|
rs140995590
|
0.00294
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459
|
0.00294
|
NM_022356.4(P3H1):c.1473+5G>T
|
rs114044880
|
0.00294
|
NM_000238.4(KCNH2):c.3152+12C>A
|
rs72549420
|
0.00293
|
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)
|
rs112464110
|
0.00293
|
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)
|
rs73038337
|
0.00293
|
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)
|
rs72647870
|
0.00293
|
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val)
|
rs188517529
|
0.00293
|
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=)
|
rs61733871
|
0.00293
|
NM_004482.4(GALNT3):c.132A>G (p.Gln44=)
|
rs149809222
|
0.00293
|
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His)
|
rs41311989
|
0.00293
|
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)
|
rs116679717
|
0.00293
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg)
|
rs61736946
|
0.00293
|
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
|
rs34994927
|
0.00293
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
NM_000142.5(FGFR3):c.393G>A (p.Ser131=)
|
rs55662109
|
0.00292
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_000271.5(NPC1):c.3477+4A>G
|
rs114073738
|
0.00292
|
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu)
|
rs35292878
|
0.00292
|
NM_001378414.1(HDAC4):c.1953C>T (p.Pro651=)
|
rs146056747
|
0.00292
|
NM_005006.7(NDUFS1):c.421-7A>G
|
rs192949406
|
0.00292
|
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=)
|
rs140540789
|
0.00292
|
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser)
|
rs115169993
|
0.00292
|
NM_006929.5(SKIC2):c.179A>G (p.Gln60Arg)
|
rs35985869
|
0.00292
|
NM_007078.3(LDB3):c.163G>A (p.Val55Ile)
|
rs3740343
|
0.00292
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00292
|
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)
|
rs35180584
|
0.00291
|
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=)
|
rs113747896
|
0.00291
|
NM_001378414.1(HDAC4):c.1095+10C>G
|
rs11896634
|
0.00291
|
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
0.00291
|
NM_005529.7(HSPG2):c.9514-3C>T
|
rs114851424
|
0.00291
|
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)
|
rs143981992
|
0.00291
|
NM_000059.4(BRCA2):c.7805+6C>G
|
rs81002819
|
0.00290
|
NM_000155.4(GALT):c.510C>A (p.Ile170=)
|
rs61735984
|
0.00290
|
NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)
|
rs142708991
|
0.00290
|
NM_001031679.3(MSRB3):c.180C>T (p.Thr60=)
|
rs147698935
|
0.00290
|
NM_001034852.3(SMOC1):c.567G>A (p.Pro189=)
|
rs142590267
|
0.00290
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)
|
rs72648256
|
0.00290
|
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=)
|
rs115816749
|
0.00290
|
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=)
|
rs112506924
|
0.00290
|
NM_002691.4(POLD1):c.1977C>T (p.Ile659=)
|
rs45605236
|
0.00290
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser)
|
rs143519723
|
0.00290
|
NM_007254.4(PNKP):c.939T>C (p.Phe313=)
|
rs149731642
|
0.00290
|
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser)
|
rs41274696
|
0.00290
|
NM_153676.4(USH1C):c.381G>T (p.Gly127=)
|
rs41282942
|
0.00290
|
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)
|
rs74463786
|
0.00290
|
NM_014014.5(SNRNP200):c.5664C>T (p.His1888=)
|
rs139731897
|
0.00289
|
NM_022124.6(CDH23):c.2970C>T (p.Asp990=)
|
rs56216952
|
0.00289
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
NM_000093.5(COL5A1):c.240C>T (p.Asp80=)
|
rs79724538
|
0.00288
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
NM_004715.5(CTDP1):c.2274G>A (p.Pro758=)
|
rs140627086
|
0.00288
|
NM_007078.3(LDB3):c.2016C>T (p.Cys672=)
|
rs45578640
|
0.00288
|
NM_022436.3(ABCG5):c.1763-7T>G
|
rs114780578
|
0.00288
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
NM_000875.5(IGF1R):c.1310G>A (p.Arg437His)
|
rs34516635
|
0.00287
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)
|
rs75031300
|
0.00287
|
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn)
|
rs141010212
|
0.00287
|
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)
|
rs41287112
|
0.00287
|
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=)
|
rs76525703
|
0.00287
|
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met)
|
rs114149451
|
0.00287
|
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)
|
rs145733598
|
0.00287
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
NM_005045.4(RELN):c.906C>T (p.Ala302=)
|
rs114494558
|
0.00287
|
NM_005445.4(SMC3):c.255A>G (p.Ser85=)
|
rs146433240
|
0.00287
|
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)
|
rs34352773
|
0.00287
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_000503.6(EYA1):c.840C>A (p.Ile280=)
|
rs55972891
|
0.00286
|
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=)
|
rs146294986
|
0.00286
|
NM_001458.5(FLNC):c.4928-7T>C
|
rs201957008
|
0.00286
|
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=)
|
rs143313706
|
0.00286
|
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)
|
rs587780375
|
0.00286
|
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)
|
rs61966074
|
0.00285
|
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=)
|
rs61733248
|
0.00285
|
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=)
|
rs373880077
|
0.00285
|
NM_003923.3(FOXH1):c.783T>C (p.Pro261=)
|
rs151147114
|
0.00285
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)
|
rs41281318
|
0.00285
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly)
|
rs10029227
|
0.00285
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_001079802.2(FKTN):c.1045-40C>A
|
rs145883833
|
0.00284
|
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)
|
rs55821405
|
0.00284
|
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val)
|
rs148788180
|
0.00284
|
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile)
|
rs61751497
|
0.00284
|
NM_018136.5(ASPM):c.3599-4A>G
|
rs149303254
|
0.00284
|
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=)
|
rs189752384
|
0.00284
|
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu)
|
rs150179494
|
0.00284
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
NM_000501.4(ELN):c.1566T>A (p.Gly522=)
|
rs61734584
|
0.00283
|
NM_001008216.2(GALE):c.772C>T (p.Leu258=)
|
rs147618796
|
0.00283
|
NM_001035.3(RYR2):c.1218G>A (p.Ser406=)
|
rs147389346
|
0.00283
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=)
|
rs61737781
|
0.00283
|
NM_003482.4(KMT2D):c.4020+13C>G
|
rs184377216
|
0.00283
|
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro)
|
rs116105264
|
0.00283
|
NM_005045.4(RELN):c.416C>G (p.Thr139Ser)
|
rs79471015
|
0.00283
|
NM_006269.2(RP1):c.382C>A (p.Leu128Ile)
|
rs147116231
|
0.00283
|
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys)
|
rs148346599
|
0.00283
|
NM_000271.5(NPC1):c.1071G>A (p.Ser357=)
|
rs61731964
|
0.00282
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_001429.4(EP300):c.2064A>G (p.Leu688=)
|
rs61756763
|
0.00282
|
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)
|
rs56204478
|
0.00282
|
NM_025193.4(HSD3B7):c.103C>G (p.Arg35Gly)
|
rs150464212
|
0.00282
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)
|
rs112581563
|
0.00281
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_001004334.4(GPR179):c.5563C>G (p.Leu1855Val)
|
rs79954845
|
0.00280
|
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)
|
rs34203644
|
0.00280
|
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile)
|
rs138801821
|
0.00280
|
NM_015340.4(LARS2):c.2307C>T (p.Ser769=)
|
rs143838895
|
0.00280
|
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)
|
rs114079815
|
0.00280
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)
|
rs146097254
|
0.00280
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe)
|
rs139586720
|
0.00279
|
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser)
|
rs112532048
|
0.00279
|
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg)
|
rs72468638
|
0.00279
|
NM_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
0.00279
|
NM_006383.4(CIB2):c.448G>A (p.Asp150Asn)
|
rs141932061
|
0.00279
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)
|
rs182650126
|
0.00278
|
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=)
|
rs148772706
|
0.00278
|
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)
|
rs35504014
|
0.00278
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_002181.4(IHH):c.315+8C>T
|
rs186249490
|
0.00278
|
NM_018136.5(ASPM):c.9444+8T>G
|
rs140150599
|
0.00278
|
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)
|
rs116445698
|
0.00278
|
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp)
|
rs34028822
|
0.00278
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)
|
rs146858930
|
0.00277
|
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)
|
rs62638215
|
0.00277
|
NM_001040142.2(SCN2A):c.387-10G>A
|
rs2304015
|
0.00277
|
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His)
|
rs140622968
|
0.00277
|
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)
|
rs55791823
|
0.00277
|
NM_014795.4(ZEB2):c.489C>T (p.Ile163=)
|
rs138859323
|
0.00277
|
NM_172364.5(CACNA2D4):c.888G>A (p.Val296=)
|
rs192991525
|
0.00277
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000203.5(IDUA):c.299+7G>A
|
rs200911718
|
0.00276
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00276
|
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)
|
rs35429535
|
0.00276
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)
|
rs35398714
|
0.00276
|
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)
|
rs148552744
|
0.00276
|
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=)
|
rs149408382
|
0.00276
|
NM_144997.7(FLCN):c.1177-21G>A
|
rs150687840
|
0.00276
|
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=)
|
rs147402839
|
0.00276
|
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly)
|
rs35297226
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)
|
rs61737803
|
0.00275
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
NM_001193315.2(VIPAS39):c.861C>T (p.Ser287=)
|
rs148698913
|
0.00275
|
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg)
|
rs150199226
|
0.00275
|
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=)
|
rs113835820
|
0.00275
|
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp)
|
rs35374168
|
0.00275
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)
|
rs146458902
|
0.00274
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_000257.4(MYH7):c.4353+10G>A
|
rs202205780
|
0.00274
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=)
|
rs151150677
|
0.00274
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val)
|
rs145901197
|
0.00274
|
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys)
|
rs201369291
|
0.00274
|
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=)
|
rs71530911
|
0.00274
|
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)
|
rs2230516
|
0.00274
|
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)
|
rs111400494
|
0.00274
|
NM_080669.6(SLC46A1):c.756C>G (p.Val252=)
|
rs185900287
|
0.00274
|
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=)
|
rs112266645
|
0.00274
|
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
|
rs41292753
|
0.00274
|
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu)
|
rs139486406
|
0.00273
|
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)
|
rs72648980
|
0.00273
|
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)
|
rs145720664
|
0.00273
|
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)
|
rs75450131
|
0.00273
|
NM_012208.4(HARS2):c.7C>G (p.Leu3Val)
|
rs186043734
|
0.00273
|
NM_020822.3(KCNT1):c.333G>A (p.Ser111=)
|
rs56008253
|
0.00273
|
NM_182894.3(VSX2):c.522C>T (p.Asp174=)
|
rs78509400
|
0.00273
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys)
|
rs77384282
|
0.00272
|
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)
|
rs150388417
|
0.00272
|
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)
|
rs192354176
|
0.00272
|
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=)
|
rs150357327
|
0.00272
|
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=)
|
rs113542401
|
0.00272
|
NM_004625.4(WNT7A):c.75C>T (p.Gly25=)
|
rs35103037
|
0.00272
|
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)
|
rs141292904
|
0.00272
|
NM_015909.4(NBAS):c.6790G>C (p.Asp2264His)
|
rs145372749
|
0.00272
|
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln)
|
rs140492803
|
0.00272
|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)
|
rs148594393
|
0.00272
|
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)
|
rs56226109
|
0.00271
|
NM_000426.4(LAMA2):c.5247C>T (p.Ala1749=)
|
rs149951387
|
0.00271
|
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=)
|
rs199536442
|
0.00271
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_005422.4(TECTA):c.972G>C (p.Val324=)
|
rs147790742
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=)
|
rs116156469
|
0.00271
|
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His)
|
rs143832120
|
0.00271
|
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser)
|
rs56148525
|
0.00271
|
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro)
|
rs141952919
|
0.00271
|
NM_000278.5(PAX2):c.360C>T (p.Ala120=)
|
rs41291450
|
0.00270
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_001128205.2(SULF1):c.669G>T (p.Ala223=)
|
rs111474126
|
0.00270
|
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser)
|
rs149081471
|
0.00270
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
NM_007126.5(VCP):c.927C>T (p.Ile309=)
|
rs34097935
|
0.00270
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
NM_018979.4(WNK1):c.5583+3A>G
|
rs72650758
|
0.00270
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=)
|
rs61735288
|
0.00269
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=)
|
rs8187709
|
0.00269
|
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe)
|
rs147846832
|
0.00269
|
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys)
|
rs184586428
|
0.00269
|
NM_006005.3(WFS1):c.1674C>T (p.Arg558=)
|
rs61735402
|
0.00269
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
NM_018979.4(WNK1):c.5281-4G>A
|
rs72650740
|
0.00269
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)
|
rs143708308
|
0.00268
|
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu)
|
rs140710321
|
0.00268
|
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=)
|
rs114747836
|
0.00268
|
NM_194248.3(OTOF):c.2215-80T>C
|
rs143141993
|
0.00268
|
NM_000168.6(GLI3):c.2373G>A (p.Pro791=)
|
rs61754622
|
0.00267
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00267
|
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=)
|
rs45489099
|
0.00267
|
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)
|
rs146608896
|
0.00267
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)
|
rs61735479
|
0.00267
|
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=)
|
rs139911745
|
0.00267
|
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)
|
rs115387170
|
0.00267
|
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)
|
rs148904096
|
0.00267
|
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)
|
rs75485205
|
0.00267
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=)
|
rs138411915
|
0.00267
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr)
|
rs148773489
|
0.00266
|
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe)
|
rs142597675
|
0.00266
|
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val)
|
rs35656321
|
0.00266
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=)
|
rs116774472
|
0.00265
|
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)
|
rs140350441
|
0.00265
|
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)
|
rs72647845
|
0.00265
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=)
|
rs1803241
|
0.00265
|
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val)
|
rs116729313
|
0.00265
|
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=)
|
rs139001173
|
0.00265
|
NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala)
|
rs77493891
|
0.00265
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_017775.4(TTC19):c.1041A>G (p.Gln347=)
|
rs77955179
|
0.00265
|
NM_201253.3(CRB1):c.1470C>T (p.Gly490=)
|
rs35193230
|
0.00265
|
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)
|
rs34309943
|
0.00264
|
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)
|
rs77144743
|
0.00264
|
NM_000542.5(SFTPB):c.526C>T (p.Leu176Phe)
|
rs3024801
|
0.00264
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_000717.5(CA4):c.492G>A (p.Ala164=)
|
rs139119204
|
0.00264
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)
|
rs146869947
|
0.00264
|
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)
|
rs72646823
|
0.00264
|
NM_005379.4(MYO1A):c.2724+7G>A
|
rs55985817
|
0.00264
|
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=)
|
rs112483670
|
0.00264
|
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=)
|
rs139074002
|
0.00264
|
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=)
|
rs188485743
|
0.00264
|
NM_016239.4(MYO15A):c.4779+9G>A
|
rs183256997
|
0.00264
|
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)
|
rs17102066
|
0.00264
|
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
NM_018100.4(EFHC1):c.25T>C (p.Leu9=)
|
rs149315015
|
0.00264
|
NM_078470.6(COX15):c.1026C>T (p.Phe342=)
|
rs147724430
|
0.00264
|
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)
|
rs147274045
|
0.00264
|
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)
|
rs201342438
|
0.00263
|
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser)
|
rs149075285
|
0.00263
|
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=)
|
rs201145311
|
0.00263
|
NM_020779.4(WDR35):c.318T>C (p.Ile106=)
|
rs115963122
|
0.00263
|
NM_025243.4(SLC19A3):c.546G>A (p.Val182=)
|
rs143188189
|
0.00263
|
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys)
|
rs75857070
|
0.00263
|
NM_000193.4(SHH):c.570G>A (p.Ser190=)
|
rs9333633
|
0.00262
|
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile)
|
rs115928999
|
0.00262
|
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu)
|
rs55915440
|
0.00262
|
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)
|
rs45569837
|
0.00262
|
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)
|
rs141631911
|
0.00262
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)
|
rs374664760
|
0.00262
|
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=)
|
rs142861804
|
0.00262
|
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)
|
rs115993270
|
0.00262
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=)
|
rs190361551
|
0.00262
|
NM_018668.5(VPS33B):c.842C>G (p.Ala281Gly)
|
rs115308854
|
0.00262
|
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=)
|
rs148743086
|
0.00262
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_025237.3(SOST):c.-10G>A
|
rs190743758
|
0.00262
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile)
|
rs34480732
|
0.00262
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)
|
rs181717727
|
0.00261
|
NM_001291303.3(FAT4):c.14666G>A (p.Arg4889Lys)
|
rs35845544
|
0.00261
|
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935
|
0.00261
|
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=)
|
rs61755180
|
0.00261
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His)
|
rs61755066
|
0.00261
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp)
|
rs539329891
|
0.00261
|
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)
|
rs142335339
|
0.00261
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_152564.5(VPS13B):c.9330+9A>G
|
rs184381851
|
0.00261
|
NM_198525.3(KIF7):c.3111+9C>A
|
rs147996726
|
0.00261
|
NM_207361.6(FREM2):c.9071A>G (p.Asn3024Ser)
|
rs115149211
|
0.00261
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_000540.3(RYR1):c.11360-9T>A
|
rs150187840
|
0.00260
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_000900.5(MGP):c.115A>C (p.Asn39His)
|
rs145210821
|
0.00260
|
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu)
|
rs201190869
|
0.00260
|
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile)
|
rs115171119
|
0.00260
|
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=)
|
rs61746613
|
0.00260
|
NM_013435.3(RAX):c.197G>C (p.Arg66Thr)
|
rs536765190
|
0.00260
|
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys)
|
rs34965084
|
0.00260
|
NM_000070.3(CAPN3):c.930T>C (p.Asp310=)
|
rs150356488
|
0.00259
|
NM_000431.4(MVK):c.238G>A (p.Val80Ile)
|
rs76914224
|
0.00259
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)
|
rs138723423
|
0.00259
|
NM_004937.3(CTNS):c.462-7C>A
|
rs189632527
|
0.00259
|
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala)
|
rs111262341
|
0.00259
|
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)
|
rs144426409
|
0.00259
|
NM_181882.3(PRX):c.2043C>T (p.Pro681=)
|
rs56743160
|
0.00259
|
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn)
|
rs150644129
|
0.00259
|
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)
|
rs143157673
|
0.00258
|
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)
|
rs149185431
|
0.00258
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00258
|
NM_001429.4(EP300):c.5814G>A (p.Thr1938=)
|
rs112948044
|
0.00258
|
NM_001429.4(EP300):c.865A>G (p.Met289Val)
|
rs2230111
|
0.00258
|
NM_003816.3(ADAM9):c.280G>A (p.Val94Ile)
|
rs146980702
|
0.00258
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_005591.4(MRE11):c.969A>G (p.Pro323=)
|
rs13447633
|
0.00258
|
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val)
|
rs141497885
|
0.00258
|
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
|
rs138716143
|
0.00258
|
NM_013382.7(POMT2):c.924-10C>T
|
rs142122657
|
0.00258
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)
|
rs147223770
|
0.00258
|
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)
|
rs72648913
|
0.00258
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)
|
rs80075498
|
0.00257
|
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=)
|
rs138609094
|
0.00257
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile)
|
rs139798654
|
0.00257
|
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)
|
rs55992440
|
0.00257
|
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=)
|
rs141812464
|
0.00257
|
NM_022081.6(HPS4):c.1883G>A (p.Arg628His)
|
rs78892693
|
0.00257
|
NM_000168.6(GLI3):c.1357-17C>G
|
rs190600888
|
0.00256
|
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser)
|
rs35373464
|
0.00256
|
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)
|
rs3027927
|
0.00256
|
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=)
|
rs149043190
|
0.00256
|
NM_014000.3(VCL):c.2025G>A (p.Val675=)
|
rs140766884
|
0.00256
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000542.5(SFTPB):c.291G>A (p.Glu97=)
|
rs34682912
|
0.00255
|
NM_001170629.2(CHD8):c.456A>G (p.Pro152=)
|
rs61752839
|
0.00255
|
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln)
|
rs187270666
|
0.00255
|
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)
|
rs139506970
|
0.00255
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)
|
rs41279055
|
0.00255
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=)
|
rs142650279
|
0.00255
|
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=)
|
rs61746518
|
0.00255
|
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile)
|
rs139521179
|
0.00255
|
NM_170699.3(GPBAR1):c.458C>T (p.Ala153Val)
|
rs138439621
|
0.00255
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
|
rs138498780
|
0.00254
|
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
|
rs114015043
|
0.00254
|
NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys)
|
rs76776637
|
0.00254
|
NM_201253.3(CRB1):c.600A>G (p.Thr200=)
|
rs77713666
|
0.00254
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys)
|
rs115379510
|
0.00253
|
NM_000392.5(ABCC2):c.1032-3C>T
|
rs139800035
|
0.00253
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_001369.3(DNAH5):c.7752+10T>C
|
rs149460805
|
0.00253
|
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)
|
rs150392503
|
0.00253
|
NM_005802.5(TOPORS):c.2643C>G (p.His881Gln)
|
rs41302222
|
0.00253
|
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser)
|
rs143877693
|
0.00253
|
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu)
|
rs147791304
|
0.00253
|
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=)
|
rs139927527
|
0.00253
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001031679.3(MSRB3):c.486G>A (p.Ala162=)
|
rs35393316
|
0.00252
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
0.00252
|
NM_001457.4(FLNB):c.1044C>T (p.Asp348=)
|
rs111996979
|
0.00252
|
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)
|
rs147219060
|
0.00252
|
NM_002206.3(ITGA7):c.3058-6C>T
|
rs201070308
|
0.00252
|
NM_005548.3(KARS1):c.1674C>T (p.Leu558=)
|
rs143267922
|
0.00252
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met)
|
rs17003166
|
0.00252
|
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val)
|
rs17687375
|
0.00252
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)
|
rs142647321
|
0.00251
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)
|
rs139223781
|
0.00251
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)
|
rs112577505
|
0.00251
|
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe)
|
rs2296651
|
0.00251
|
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr)
|
rs75820839
|
0.00251
|
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)
|
rs77138370
|
0.00251
|
NM_198239.2(CCN6):c.310G>C (p.Val104Leu)
|
rs78266262
|
0.00251
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)
|
rs2306618
|
0.00250
|
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)
|
rs188370772
|
0.00250
|
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=)
|
rs142328132
|
0.00250
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_182914.3(SYNE2):c.2560C>G (p.Gln854Glu)
|
rs34449017
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
NM_004393.6(DAG1):c.1233G>A (p.Val411=)
|
rs145765079
|
0.00249
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
NM_016356.5(DCDC2):c.855A>G (p.Ser285=)
|
rs141519329
|
0.00249
|
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg)
|
rs78110192
|
0.00249
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00248
|
NM_001457.4(FLNB):c.4222+8A>G
|
rs190025781
|
0.00248
|
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)
|
rs143827025
|
0.00248
|
NM_004407.4(DMP1):c.879T>C (p.Ser293=)
|
rs150896376
|
0.00248
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369
|
0.00248
|
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile)
|
rs76659072
|
0.00248
|
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
|
rs11570112
|
0.00247
|
NM_000444.6(PHEX):c.1344C>T (p.Asp448=)
|
rs144911719
|
0.00247
|
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=)
|
rs368002375
|
0.00247
|
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg)
|
rs139459217
|
0.00247
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00247
|
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu)
|
rs138220431
|
0.00247
|
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=)
|
rs113615425
|
0.00247
|
NM_003282.4(TNNI2):c.354G>A (p.Ser118=)
|
rs141400587
|
0.00247
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)
|
rs146573578
|
0.00247
|
NM_201384.3(PLEC):c.1956C>T (p.Thr652=)
|
rs201835507
|
0.00247
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu)
|
rs34917815
|
0.00246
|
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)
|
rs145525174
|
0.00246
|
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=)
|
rs141317474
|
0.00246
|
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)
|
rs61748876
|
0.00246
|
NM_004260.4(RECQL4):c.1390+3G>A
|
rs148912524
|
0.00246
|
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)
|
rs147953465
|
0.00245
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)
|
rs148352371
|
0.00245
|
NM_000553.6(WRN):c.970A>G (p.Thr324Ala)
|
rs1800390
|
0.00245
|
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr)
|
rs190390987
|
0.00245
|
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys)
|
rs78640816
|
0.00245
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_001365088.1(SLC12A6):c.3042+8A>G
|
rs186141509
|
0.00245
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)
|
rs34096980
|
0.00245
|
NM_005159.5(ACTC1):c.454+9G>A
|
rs148695567
|
0.00245
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_024408.4(NOTCH2):c.3519C>T (p.Cys1173=)
|
rs115325955
|
0.00245
|
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala)
|
rs61754947
|
0.00245
|
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)
|
rs146994147
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
NM_000261.2(MYOC):c.366C>T (p.Gly122=)
|
rs145354114
|
0.00244
|
NM_001008216.2(GALE):c.912G>A (p.Val304=)
|
rs143694860
|
0.00244
|
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn)
|
rs115421185
|
0.00244
|
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val)
|
rs141901178
|
0.00244
|
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)
|
rs150082469
|
0.00244
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
NM_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
NM_001232.4(CASQ2):c.198G>A (p.Thr66=)
|
rs74114618
|
0.00243
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)
|
rs138049720
|
0.00243
|
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=)
|
rs72866991
|
0.00243
|
NM_006214.4(PHYH):c.717C>T (p.Tyr239=)
|
rs142720126
|
0.00243
|
NM_006432.5(NPC2):c.*9T>C
|
rs80216539
|
0.00243
|
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=)
|
rs139114208
|
0.00243
|
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys)
|
rs145419117
|
0.00243
|
NM_000540.3(RYR1):c.14130-8C>G
|
rs140808099
|
0.00242
|
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu)
|
rs143929832
|
0.00242
|
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)
|
rs142074817
|
0.00242
|
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn)
|
rs183470913
|
0.00242
|
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn)
|
rs28562813
|
0.00242
|
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu)
|
rs150075912
|
0.00242
|
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)
|
rs150687987
|
0.00242
|
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)
|
rs144765752
|
0.00242
|
NM_002474.3(MYH11):c.453G>A (p.Pro151=)
|
rs61734199
|
0.00242
|
NM_004403.3(GSDME):c.521T>C (p.Met174Thr)
|
rs876306
|
0.00242
|
NM_004715.5(CTDP1):c.2322C>T (p.Tyr774=)
|
rs35234657
|
0.00242
|
NM_006031.6(PCNT):c.9274-3C>T
|
rs200348425
|
0.00242
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)
|
rs148932387
|
0.00242
|
NM_000137.4(FAH):c.1259G>A (p.Ter420=)
|
rs61747586
|
0.00241
|
NM_000337.6(SGCD):c.*2A>C
|
rs200757725
|
0.00241
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
NM_001004334.4(GPR179):c.4709C>T (p.Thr1570Met)
|
rs187512697
|
0.00241
|
NM_001793.6(CDH3):c.1500C>T (p.Thr500=)
|
rs35232945
|
0.00241
|
NM_004560.4(ROR2):c.372C>T (p.Asp124=)
|
rs145568368
|
0.00241
|
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=)
|
rs148723625
|
0.00241
|
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)
|
rs138161346
|
0.00241
|
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys)
|
rs56291926
|
0.00241
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00240
|
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)
|
rs147106995
|
0.00240
|
NM_000557.5(GDF5):c.652A>C (p.Arg218=)
|
rs116467702
|
0.00240
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)
|
rs113154524
|
0.00240
|
NM_002979.5(SCP2):c.687T>C (p.Asp229=)
|
rs80033039
|
0.00240
|
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)
|
rs531879999
|
0.00240
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)
|
rs145896974
|
0.00240
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)
|
rs111033479
|
0.00240
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
|
rs35689779
|
0.00239
|
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
|
rs113106943
|
0.00239
|
NM_000726.5(CACNB4):c.655A>G (p.Met219Val)
|
rs201870832
|
0.00239
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00239
|
NM_001379110.1(SLC9A6):c.1460+4A>G
|
rs180727016
|
0.00239
|
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr)
|
rs61756328
|
0.00239
|
NM_004715.5(CTDP1):c.2581-5G>T
|
rs199505565
|
0.00239
|
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser)
|
rs71578980
|
0.00239
|
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)
|
rs190548814
|
0.00239
|
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)
|
rs61738009
|
0.00239
|
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly)
|
rs140047528
|
0.00239
|
NM_000240.4(MAOA):c.825G>A (p.Pro275=)
|
rs138703731
|
0.00238
|
NM_000426.4(LAMA2):c.6429+8C>A
|
rs199773264
|
0.00238
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu)
|
rs200350579
|
0.00238
|
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=)
|
rs201174259
|
0.00238
|
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly)
|
rs116306908
|
0.00238
|
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=)
|
rs202085637
|
0.00238
|
NM_004999.4(MYO6):c.1224-4A>G
|
rs144031818
|
0.00238
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_182943.3(PLOD2):c.1644C>T (p.Asn548=)
|
rs150609339
|
0.00238
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)
|
rs139468837
|
0.00237
|
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)
|
rs35277762
|
0.00237
|
NM_001384732.1(CPLANE1):c.8958+4A>C
|
rs199810663
|
0.00237
|
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=)
|
rs151241914
|
0.00237
|
NM_133497.4(KCNV2):c.291C>T (p.Ser97=)
|
rs113456345
|
0.00237
|
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu)
|
rs139790539
|
0.00237
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
NM_000426.4(LAMA2):c.4959+6G>T
|
rs148060790
|
0.00236
|
NM_000557.5(GDF5):c.462C>A (p.Pro154=)
|
rs150686636
|
0.00236
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)
|
rs200342335
|
0.00236
|
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=)
|
rs115222767
|
0.00236
|
NM_001605.3(AARS1):c.1672-4T>A
|
rs187509039
|
0.00236
|
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)
|
rs41287108
|
0.00236
|
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)
|
rs41301481
|
0.00236
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)
|
rs35234349
|
0.00236
|
NM_006383.4(CIB2):c.462G>A (p.Glu154=)
|
rs117153558
|
0.00236
|
NM_014141.6(CNTNAP2):c.681C>T (p.His227=)
|
rs142984073
|
0.00236
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_018941.4(CLN8):c.290G>A (p.Arg97His)
|
rs116605307
|
0.00236
|
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=)
|
rs368377560
|
0.00236
|
NM_024809.5(TCTN2):c.720C>G (p.Pro240=)
|
rs149430216
|
0.00236
|
NM_025009.5(CEP135):c.638T>C (p.Val213Ala)
|
rs150331261
|
0.00236
|
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)
|
rs145035489
|
0.00236
|
NM_032119.4(ADGRV1):c.22+9T>C
|
rs368604803
|
0.00236
|
NM_080916.3(DGUOK):c.123C>G (p.Leu41=)
|
rs145252858
|
0.00236
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=)
|
rs138826759
|
0.00235
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)
|
rs111033292
|
0.00235
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00235
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val)
|
rs117462138
|
0.00235
|
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)
|
rs186453356
|
0.00235
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_182914.3(SYNE2):c.6880-5C>T
|
rs187173455
|
0.00235
|
NM_203288.2(RP9):c.216A>G (p.Pro72=)
|
rs114747263
|
0.00235
|
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=)
|
rs114896216
|
0.00234
|
NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn)
|
rs114234514
|
0.00234
|
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=)
|
rs74160617
|
0.00234
|
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=)
|
rs146730044
|
0.00234
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
0.00234
|
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)
|
rs41272041
|
0.00234
|
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln)
|
rs36062562
|
0.00234
|
NM_004541.4(NDUFA1):c.141G>C (p.Leu47=)
|
rs140064980
|
0.00234
|
NM_006204.4(PDE6C):c.2037-7T>C
|
rs181296577
|
0.00234
|
NM_017534.6(MYH2):c.4860C>G (p.Leu1620=)
|
rs148538539
|
0.00234
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)
|
rs34664134
|
0.00233
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)
|
rs78046647
|
0.00233
|
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)
|
rs142528559
|
0.00233
|
NM_005633.4(SOS1):c.570C>T (p.Asp190=)
|
rs55980502
|
0.00233
|
NM_005957.5(MTHFR):c.236+3A>G
|
rs1413355
|
0.00233
|
NM_007317.3(KIF22):c.1397G>A (p.Arg466Gln)
|
rs145879411
|
0.00233
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_024009.3(GJB3):c.313C>A (p.His105Asn)
|
rs150245955
|
0.00233
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
NM_001017420.3(ESCO2):c.506G>A (p.Arg169Gln)
|
rs1052492
|
0.00232
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
NM_001173467.3(SP7):c.864G>A (p.Leu288=)
|
rs113295055
|
0.00232
|
NM_001384140.1(PCDH15):c.4672-1640A>G
|
rs145178582
|
0.00232
|
NM_002471.4(MYH6):c.1275C>T (p.Ile425=)
|
rs61742470
|
0.00232
|
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln)
|
rs137974620
|
0.00232
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)
|
rs142199280
|
0.00232
|
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln)
|
rs74358901
|
0.00232
|
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val)
|
rs144715071
|
0.00232
|
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser)
|
rs186143284
|
0.00232
|
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=)
|
rs138769395
|
0.00232
|
NM_000030.3(AGXT):c.557C>T (p.Ala186Val)
|
rs117195882
|
0.00231
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_000554.6(CRX):c.196G>A (p.Val66Ile)
|
rs61748438
|
0.00231
|
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)
|
rs61749163
|
0.00231
|
NM_001378414.1(HDAC4):c.1809G>A (p.Glu603=)
|
rs148813865
|
0.00231
|
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln)
|
rs139573483
|
0.00231
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
NM_002615.7(SERPINF1):c.555G>A (p.Gln185=)
|
rs34063250
|
0.00231
|
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)
|
rs150236371
|
0.00231
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=)
|
rs151083690
|
0.00230
|
NM_001715.3(BLK):c.674C>T (p.Pro225Leu)
|
rs144592409
|
0.00230
|
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr)
|
rs140041506
|
0.00230
|
NM_002335.4(LRP5):c.2124G>A (p.Ser708=)
|
rs140977837
|
0.00230
|
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)
|
rs149172723
|
0.00230
|
NM_018714.3(COG1):c.1893C>T (p.Cys631=)
|
rs80232475
|
0.00230
|
NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg)
|
rs202095663
|
0.00230
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser)
|
rs139392523
|
0.00230
|
NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly)
|
rs151022876
|
0.00230
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_001048166.1(STIL):c.1024-4T>C
|
rs188900275
|
0.00229
|
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)
|
rs144177566
|
0.00229
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala)
|
rs72657320
|
0.00229
|
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00229
|
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=)
|
rs61736186
|
0.00229
|
NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg)
|
rs146764905
|
0.00229
|
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr)
|
rs140796438
|
0.00229
|
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln)
|
rs116823950
|
0.00229
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
NM_001035.3(RYR2):c.6555+6G>A
|
rs372661934
|
0.00228
|
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)
|
rs141918432
|
0.00228
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00228
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_006059.4(LAMC3):c.3927+8C>G
|
rs148008251
|
0.00228
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
NM_024747.6(HPS6):c.1779G>A (p.Pro593=)
|
rs77529785
|
0.00228
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037
|
0.00228
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_000540.3(RYR1):c.216G>T (p.Leu72=)
|
rs113389877
|
0.00227
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=)
|
rs143269092
|
0.00227
|
NM_003179.3(SYP):c.687C>T (p.Ala229=)
|
rs201427270
|
0.00227
|
NM_004260.4(RECQL4):c.891C>T (p.Asp297=)
|
rs34700133
|
0.00227
|
NM_004393.6(DAG1):c.2036G>A (p.Arg679His)
|
rs113904914
|
0.00227
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=)
|
rs200018782
|
0.00226
|
NM_002335.4(LRP5):c.4209C>G (p.Val1403=)
|
rs147671915
|
0.00226
|
NM_006059.4(LAMC3):c.3347C>G (p.Ala1116Gly)
|
rs36028197
|
0.00226
|
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)
|
rs76778263
|
0.00226
|
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=)
|
rs111227648
|
0.00226
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)
|
rs201554140
|
0.00225
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
NM_001429.4(EP300):c.6636G>A (p.Gln2212=)
|
rs142673005
|
0.00225
|
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu)
|
rs111803773
|
0.00225
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
NM_015295.3(SMCHD1):c.424+10C>T
|
rs201631086
|
0.00225
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
NM_021625.5(TRPV4):c.1824+4C>T
|
rs147259744
|
0.00225
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
NM_182914.3(SYNE2):c.16095-10G>A
|
rs139126909
|
0.00225
|
NM_201384.3(PLEC):c.11994C>T (p.Pro3998=)
|
rs113137721
|
0.00225
|
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser)
|
rs143026295
|
0.00224
|
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)
|
rs116105846
|
0.00224
|
NM_001289.6(CLIC2):c.478C>G (p.Pro160Ala)
|
rs41304992
|
0.00224
|
NM_014319.5(LEMD3):c.2388-7C>T
|
rs184015447
|
0.00224
|
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly)
|
rs144727288
|
0.00224
|
NM_024809.5(TCTN2):c.-2G>A
|
rs141768405
|
0.00224
|
NM_025193.4(HSD3B7):c.357C>T (p.Thr119=)
|
rs117645456
|
0.00224
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983
|
0.00224
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)
|
rs72648925
|
0.00223
|
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)
|
rs55696153
|
0.00223
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val)
|
rs199547661
|
0.00223
|
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=)
|
rs200998860
|
0.00223
|
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
|
rs149953814
|
0.00223
|
NM_005670.4(EPM2A):c.393G>A (p.Glu131=)
|
rs61758155
|
0.00223
|
NM_006005.3(WFS1):c.2124C>T (p.Arg708=)
|
rs61735401
|
0.00223
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_018418.5(SPATA7):c.366A>T (p.Leu122Phe)
|
rs150093878
|
0.00223
|
NM_020320.5(RARS2):c.1410C>A (p.Leu470=)
|
rs139564081
|
0.00223
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_000163.5(GHR):c.99C>G (p.Pro33=)
|
rs76183160
|
0.00222
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_000618.5(IGF1):c.156G>A (p.Thr52=)
|
rs3729846
|
0.00222
|
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=)
|
rs113168860
|
0.00222
|
NM_001077365.2(POMT1):c.1416C>T (p.Val472=)
|
rs139687326
|
0.00222
|
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)
|
rs138576504
|
0.00222
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu)
|
rs147580961
|
0.00222
|
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=)
|
rs139187399
|
0.00222
|
NM_004984.4(KIF5A):c.1293+9G>A
|
rs201749114
|
0.00222
|
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=)
|
rs75860159
|
0.00222
|
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)
|
rs149028760
|
0.00222
|
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser)
|
rs34214251
|
0.00222
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)
|
rs144383241
|
0.00222
|
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu)
|
rs186620158
|
0.00221
|
NM_001851.6(COL9A1):c.1089+9C>G
|
rs142247988
|
0.00221
|
NM_002334.4(LRP4):c.1494C>T (p.Asn498=)
|
rs61749083
|
0.00221
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)
|
rs140308808
|
0.00221
|
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)
|
rs199873924
|
0.00221
|
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala)
|
rs142849754
|
0.00221
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)
|
rs113870881
|
0.00220
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)
|
rs144746030
|
0.00220
|
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)
|
rs558064127
|
0.00220
|
NM_001303.4(COX10):c.929-7C>T
|
rs62052075
|
0.00220
|
NM_002334.4(LRP4):c.1048+7G>T
|
rs148557097
|
0.00220
|
NM_002529.4(NTRK1):c.254G>A (p.Arg85His)
|
rs79678945
|
0.00220
|
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=)
|
rs143527588
|
0.00220
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=)
|
rs137921473
|
0.00220
|
NM_005802.5(TOPORS):c.1560A>G (p.Gln520=)
|
rs61756347
|
0.00220
|
NM_014336.5(AIPL1):c.516T>C (p.His172=)
|
rs62637017
|
0.00220
|
NM_020247.5(COQ8A):c.618G>A (p.Val206=)
|
rs115855910
|
0.00220
|
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155
|
0.00220
|
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)
|
rs36100288
|
0.00220
|
NM_133642.5(LARGE1):c.210C>T (p.Arg70=)
|
rs145048151
|
0.00220
|
NM_147127.5(EVC2):c.2151C>T (p.His717=)
|
rs144584049
|
0.00220
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
NM_183050.4(BCKDHB):c.742+16A>G
|
rs140373763
|
0.00220
|
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)
|
rs77311724
|
0.00219
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_001004334.4(GPR179):c.5019C>G (p.Thr1673=)
|
rs182907807
|
0.00219
|
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)
|
rs76337075
|
0.00219
|
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)
|
rs138506461
|
0.00219
|
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)
|
rs202071528
|
0.00219
|
NM_052859.4(RFT1):c.382C>T (p.Leu128Phe)
|
rs140127085
|
0.00219
|
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)
|
rs150399299
|
0.00219
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00218
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)
|
rs114711705
|
0.00218
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)
|
rs10979599
|
0.00218
|
NM_003680.4(YARS1):c.52C>T (p.Leu18=)
|
rs147538442
|
0.00218
|
NM_005045.4(RELN):c.9321C>T (p.Leu3107=)
|
rs150387973
|
0.00218
|
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val)
|
rs72787346
|
0.00218
|
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=)
|
rs376365984
|
0.00218
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu)
|
rs148291843
|
0.00217
|
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=)
|
rs147768808
|
0.00217
|
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser)
|
rs139539448
|
0.00217
|
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr)
|
rs73491901
|
0.00217
|
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=)
|
rs73491896
|
0.00217
|
NM_004463.3(FGD1):c.2268C>T (p.Cys756=)
|
rs61734178
|
0.00217
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
NM_005633.4(SOS1):c.1230G>A (p.Gln410=)
|
rs141390073
|
0.00217
|
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=)
|
rs145836229
|
0.00217
|
NM_006514.4(SCN10A):c.1453C>T (p.Arg485Cys)
|
rs151153639
|
0.00217
|
NM_012301.4(MAGI2):c.900A>G (p.Glu300=)
|
rs111635934
|
0.00217
|
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)
|
rs144049904
|
0.00217
|
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)
|
rs45540031
|
0.00217
|
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys)
|
rs145195048
|
0.00217
|
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=)
|
rs140963173
|
0.00217
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)
|
rs200543687
|
0.00216
|
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)
|
rs140639805
|
0.00216
|
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu)
|
rs201060500
|
0.00216
|
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)
|
rs200161705
|
0.00216
|
NM_001256789.3(CACNA1F):c.3651C>T (p.Val1217=)
|
rs150205903
|
0.00216
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr)
|
rs151241025
|
0.00216
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_004463.3(FGD1):c.1617G>A (p.Pro539=)
|
rs151184308
|
0.00216
|
NM_005732.4(RAD50):c.2670G>A (p.Gln890=)
|
rs112241748
|
0.00216
|
NM_139125.4(MASP1):c.1521G>A (p.Thr507=)
|
rs139497497
|
0.00216
|
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met)
|
rs62089120
|
0.00216
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_000451.4(SHOX):c.864G>A (p.Glu288=)
|
rs781656634
|
0.00215
|
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp)
|
rs140842830
|
0.00215
|
NM_001083961.2(WDR62):c.4312-5T>G
|
rs182467995
|
0.00215
|
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=)
|
rs142281464
|
0.00215
|
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)
|
rs188353745
|
0.00215
|
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)
|
rs138872455
|
0.00215
|
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)
|
rs181295720
|
0.00215
|
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=)
|
rs79232842
|
0.00215
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_001493.3(GDI1):c.324C>T (p.Ser108=)
|
rs2230286
|
0.00215
|
NM_004447.6(EPS8):c.1876C>A (p.Pro626Thr)
|
rs142733590
|
0.00215
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)
|
rs2066520
|
0.00215
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)
|
rs145547375
|
0.00215
|
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser)
|
rs34351171
|
0.00214
|
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)
|
rs72653756
|
0.00214
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_001851.6(COL9A1):c.138G>A (p.Lys46=)
|
rs139361722
|
0.00214
|
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746
|
0.00214
|
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)
|
rs77021998
|
0.00214
|
NM_144631.6(ZNF513):c.781G>A (p.Val261Met)
|
rs61742428
|
0.00214
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)
|
rs141503266
|
0.00213
|
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)
|
rs137956605
|
0.00213
|
NM_000466.3(PEX1):c.473-3C>T
|
rs150576000
|
0.00213
|
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)
|
rs143093165
|
0.00213
|
NM_006005.3(WFS1):c.712+16G>A
|
rs71524367
|
0.00213
|
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=)
|
rs61755436
|
0.00213
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
NM_018943.3(TUBA8):c.1334A>T (p.Glu445Val)
|
rs138073466
|
0.00213
|
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met)
|
rs145750007
|
0.00213
|
NM_024301.5(FKRP):c.1440C>T (p.Asn480=)
|
rs115365212
|
0.00213
|
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)
|
rs41268014
|
0.00213
|
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu)
|
rs144257406
|
0.00213
|
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)
|
rs141290741
|
0.00212
|
NM_000321.3(RB1):c.2212-15A>G
|
rs372815788
|
0.00212
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln)
|
rs113653972
|
0.00212
|
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)
|
rs180787556
|
0.00212
|
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)
|
rs140042576
|
0.00212
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
NM_022039.4(FBXW4):c.457G>A (p.Gly153Arg)
|
rs116070021
|
0.00212
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=)
|
rs139283268
|
0.00212
|
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)
|
rs143388379
|
0.00212
|
NM_000182.5(HADHA):c.-1G>T
|
rs72809666
|
0.00211
|
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn)
|
rs55858252
|
0.00211
|
NM_001035.3(RYR2):c.6555+8C>T
|
rs1759122
|
0.00211
|
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)
|
rs77570029
|
0.00211
|
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser)
|
rs141817764
|
0.00211
|
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00211
|
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu)
|
rs145479679
|
0.00211
|
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His)
|
rs142799217
|
0.00211
|
NM_004006.3(DMD):c.31+36946C>T
|
rs186833917
|
0.00211
|
NM_004465.2(FGF10):c.97G>A (p.Val33Ile)
|
rs145373611
|
0.00211
|
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln)
|
rs150883816
|
0.00211
|
NM_017946.4(FKBP14):c.495G>A (p.Lys165=)
|
rs142474407
|
0.00211
|
NM_018979.4(WNK1):c.2490G>A (p.Pro830=)
|
rs79816263
|
0.00211
|
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr)
|
rs72647897
|
0.00211
|
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)
|
rs142021049
|
0.00211
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=)
|
rs61759923
|
0.00210
|
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=)
|
rs113152264
|
0.00210
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)
|
rs150844616
|
0.00210
|
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=)
|
rs138823379
|
0.00210
|
NM_001849.4(COL6A2):c.1671+9C>T
|
rs186428044
|
0.00210
|
NM_004625.4(WNT7A):c.861G>A (p.Val287=)
|
rs149962459
|
0.00210
|
NM_004637.6(RAB7A):c.423C>G (p.Ala141=)
|
rs61758751
|
0.00210
|
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)
|
rs199823175
|
0.00210
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
NM_014141.6(CNTNAP2):c.551-11T>G
|
rs78223661
|
0.00210
|
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=)
|
rs115913738
|
0.00210
|
NM_020549.5(CHAT):c.438C>T (p.Tyr146=)
|
rs61731734
|
0.00210
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)
|
rs115200071
|
0.00209
|
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=)
|
rs1051360
|
0.00209
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met)
|
rs143570915
|
0.00209
|
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)
|
rs77656150
|
0.00209
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_014491.4(FOXP2):c.552A>G (p.Gln184=)
|
rs146945410
|
0.00209
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00208
|
NM_000431.4(MVK):c.381G>A (p.Pro127=)
|
rs140397628
|
0.00208
|
NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=)
|
rs75221202
|
0.00208
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)
|
rs182491843
|
0.00208
|
NM_001384140.1(PCDH15):c.4671+1109C>T
|
rs145418788
|
0.00208
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_004456.5(EZH2):c.1852-6C>T
|
rs78589034
|
0.00208
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_005592.4(MUSK):c.666T>C (p.Asn222=)
|
rs56044404
|
0.00208
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)
|
rs62636287
|
0.00208
|
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser)
|
rs118149040
|
0.00207
|
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)
|
rs147012990
|
0.00207
|
NM_001378452.1(ITPR1):c.1886+7C>T
|
rs181465598
|
0.00207
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)
|
rs151129325
|
0.00207
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_005422.4(TECTA):c.1812C>T (p.Ser604=)
|
rs138914618
|
0.00207
|
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)
|
rs148328539
|
0.00207
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
NM_172107.4(KCNQ2):c.*4G>A
|
rs1801508
|
0.00207
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800
|
0.00206
|
NM_000426.4(LAMA2):c.411G>A (p.Ala137=)
|
rs149347601
|
0.00206
|
NM_000540.3(RYR1):c.12283-7C>T
|
rs143861818
|
0.00206
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
NM_001267550.2(TTN):c.87707-4G>T
|
rs201770959
|
0.00206
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val)
|
rs141982003
|
0.00206
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met)
|
rs147158259
|
0.00206
|
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=)
|
rs368122233
|
0.00206
|
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met)
|
rs144900277
|
0.00206
|
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)
|
rs76881473
|
0.00206
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
NM_000346.4(SOX9):c.685+8G>A
|
rs117696751
|
0.00205
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_001042545.2(LTBP4):c.3129C>T (p.Val1043=)
|
rs78745792
|
0.00205
|
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)
|
rs11900987
|
0.00205
|
NM_001277313.2(FMN1):c.3001C>T (p.Pro1001Ser)
|
rs199592529
|
0.00205
|
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu)
|
rs76690956
|
0.00205
|
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr)
|
rs137960641
|
0.00205
|
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=)
|
rs144125797
|
0.00205
|
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg)
|
rs140419673
|
0.00205
|
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=)
|
rs140697524
|
0.00205
|
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)
|
rs151271754
|
0.00205
|
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)
|
rs150278938
|
0.00205
|
NM_004366.6(CLCN2):c.218G>A (p.Arg73His)
|
rs144412275
|
0.00205
|
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser)
|
rs148593258
|
0.00205
|
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995
|
0.00205
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=)
|
rs143004930
|
0.00205
|
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=)
|
rs147176678
|
0.00205
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
NM_000071.3(CBS):c.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)
|
rs77080672
|
0.00204
|
NM_000452.3(SLC10A2):c.762-3T>C
|
rs190734512
|
0.00204
|
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)
|
rs148372053
|
0.00204
|
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile)
|
rs150242281
|
0.00204
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)
|
rs148261539
|
0.00204
|
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser)
|
rs34371341
|
0.00204
|
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)
|
rs115346085
|
0.00204
|
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala)
|
rs114688149
|
0.00204
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)
|
rs140528529
|
0.00203
|
NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)
|
rs149478199
|
0.00203
|
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)
|
rs72648245
|
0.00203
|
NM_001457.4(FLNB):c.1472T>C (p.Met491Thr)
|
rs147575358
|
0.00203
|
NM_002900.3(RBP3):c.843C>T (p.Pro281=)
|
rs35186791
|
0.00203
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys)
|
rs74664147
|
0.00203
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737
|
0.00203
|
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)
|
rs145277501
|
0.00203
|
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
|
rs138410949
|
0.00203
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)
|
rs147336515
|
0.00202
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_000601.6(HGF):c.1008G>A (p.Glu336=)
|
rs148714837
|
0.00202
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu)
|
rs75686037
|
0.00202
|
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)
|
rs144780536
|
0.00202
|
NM_004407.4(DMP1):c.815G>A (p.Arg272His)
|
rs145237146
|
0.00202
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
NM_015910.7(WDPCP):c.385C>G (p.Leu129Val)
|
rs191796211
|
0.00202
|
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His)
|
rs200153555
|
0.00202
|
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)
|
rs121908108
|
0.00202
|
NM_000452.3(SLC10A2):c.516C>T (p.Leu172=)
|
rs114146899
|
0.00201
|
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)
|
rs148755655
|
0.00201
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_000860.6(HPGD):c.93+1_93+3dup
|
rs70947447
|
0.00201
|
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser)
|
rs145520397
|
0.00201
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)
|
rs146547678
|
0.00201
|
NM_015295.3(SMCHD1):c.1956+7C>T
|
rs145755468
|
0.00201
|
NM_033337.3(CAV3):c.-1G>A
|
rs74377241
|
0.00201
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NC_000007.14:g.117479634A>G
|
rs185028612
|
0.00200
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=)
|
rs75593857
|
0.00200
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00200
|
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)
|
rs116426399
|
0.00200
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=)
|
rs149371169
|
0.00200
|
NM_001267550.2(TTN):c.69412+10G>C
|
rs72646883
|
0.00200
|
NM_001292063.2(OTOG):c.7650C>T (p.Ile2550=)
|
rs187445787
|
0.00200
|
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln)
|
rs151158105
|
0.00200
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_003072.5(SMARCA4):c.4768+10G>A
|
rs201665695
|
0.00200
|
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu)
|
rs189199944
|
0.00200
|
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)
|
rs143092701
|
0.00200
|
NM_014639.4(SKIC3):c.3207G>C (p.Glu1069Asp)
|
rs143346257
|
0.00200
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met)
|
rs144539321
|
0.00200
|
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr)
|
rs201070741
|
0.00200
|
NM_203486.3(DLL3):c.390G>A (p.Glu130=)
|
rs113780398
|
0.00200
|
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys)
|
rs61754098
|
0.00199
|
NM_000095.3(COMP):c.218-15C>A
|
rs542886784
|
0.00199
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_000329.3(RPE65):c.675C>G (p.Ile225Met)
|
rs114379164
|
0.00199
|
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
|
rs138509553
|
0.00199
|
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479
|
0.00199
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
NM_170699.3(GPBAR1):c.636C>T (p.Ser212=)
|
rs150118963
|
0.00199
|
NM_182914.3(SYNE2):c.18039-5T>A
|
rs189611387
|
0.00199
|
NM_194318.4(B3GLCT):c.271-8T>C
|
rs183322816
|
0.00199
|
NM_000168.6(GLI3):c.840C>G (p.Ser280=)
|
rs77084911
|
0.00198
|
NM_000326.5(RLBP1):c.817C>T (p.Leu273Phe)
|
rs140570189
|
0.00198
|
NM_000363.5(TNNI3):c.273G>A (p.Ala91=)
|
rs75491697
|
0.00198
|
NM_001374385.1(ATP8B1):c.189A>G (p.Thr63=)
|
rs35377845
|
0.00198
|
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967
|
0.00198
|
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=)
|
rs41263851
|
0.00198
|
NM_004006.3(DMD):c.10087-20C>T
|
rs41303187
|
0.00198
|
NM_004958.4(MTOR):c.663C>G (p.Thr221=)
|
rs112439072
|
0.00198
|
NM_006129.5(BMP1):c.1170G>T (p.Ala390=)
|
rs76021885
|
0.00198
|
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=)
|
rs143972075
|
0.00198
|
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp)
|
rs141407971
|
0.00198
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)
|
rs151193377
|
0.00197
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_000540.3(RYR1):c.271-7C>G
|
rs192495718
|
0.00197
|
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)
|
rs200378865
|
0.00197
|
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=)
|
rs138291748
|
0.00197
|
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr)
|
rs150426222
|
0.00197
|
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)
|
rs183406496
|
0.00197
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
NM_006005.3(WFS1):c.227G>T (p.Gly76Val)
|
rs200135768
|
0.00197
|
NM_007317.3(KIF22):c.1780G>A (p.Asp594Asn)
|
rs146561986
|
0.00197
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_014780.5(CUL7):c.4914C>T (p.Asp1638=)
|
rs61731584
|
0.00197
|
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala)
|
rs144914894
|
0.00197
|
NM_000053.4(ATP7B):c.3060+16G>T
|
rs76163470
|
0.00196
|
NM_001015880.2(PAPSS2):c.861A>G (p.Leu287=)
|
rs150727538
|
0.00196
|
NM_001127255.2(NLRP7):c.2094C>T (p.His698=)
|
rs104895524
|
0.00196
|
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)
|
rs149013279
|
0.00196
|
NM_001330677.2(TBX15):c.837A>G (p.Thr279=)
|
rs140670116
|
0.00196
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
NM_014639.4(SKIC3):c.2578-10T>C
|
rs140254019
|
0.00196
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_017739.4(POMGNT1):c.236-13T>C
|
rs150578902
|
0.00196
|
NM_022455.5(NSD1):c.2295C>T (p.Asn765=)
|
rs146767413
|
0.00196
|
NM_054027.6(ANKH):c.102G>A (p.Leu34=)
|
rs116591972
|
0.00196
|
NM_201525.4(ADGRG1):c.1017+8G>A
|
rs186479054
|
0.00196
|
NM_206937.2(LIG4):c.686A>G (p.His229Arg)
|
rs142957638
|
0.00196
|
NM_212550.5(BLOC1S3):c.478G>T (p.Val160Leu)
|
rs201502372
|
0.00196
|
NM_001042472.3(ABHD12):c.1141C>T (p.Leu381=)
|
rs142709197
|
0.00195
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)
|
rs202085918
|
0.00195
|
NM_001848.3(COL6A1):c.2250+6G>C
|
rs202212586
|
0.00195
|
NM_001852.4(COL9A2):c.312C>T (p.Pro104=)
|
rs144072834
|
0.00195
|
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=)
|
rs3736229
|
0.00195
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00195
|
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile)
|
rs199895011
|
0.00195
|
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=)
|
rs200369026
|
0.00195
|
NM_005529.7(HSPG2):c.4627-3del
|
rs368983547
|
0.00195
|
NM_006031.6(PCNT):c.9700+10C>T
|
rs199917135
|
0.00195
|
NM_006790.3(MYOT):c.822T>C (p.Ser274=)
|
rs138678049
|
0.00195
|
NM_012418.4(FSCN2):c.1092C>T (p.Ile364=)
|
rs188142101
|
0.00195
|
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys)
|
rs199809018
|
0.00195
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val)
|
rs200528472
|
0.00195
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)
|
rs144762960
|
0.00195
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_000388.4(CASR):c.2730C>A (p.Pro910=)
|
rs34200949
|
0.00194
|
NM_000391.4(TPP1):c.688-7T>A
|
rs375262484
|
0.00194
|
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln)
|
rs189931659
|
0.00194
|
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)
|
rs140660854
|
0.00194
|
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr)
|
rs75426387
|
0.00194
|
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)
|
rs142381345
|
0.00194
|
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)
|
rs144930507
|
0.00194
|
NM_001364905.1(LRBA):c.*9G>T
|
rs150102345
|
0.00194
|
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=)
|
rs140210015
|
0.00194
|
NM_001848.3(COL6A1):c.324C>T (p.Gly108=)
|
rs138646508
|
0.00194
|
NM_002335.4(LRP5):c.1968C>T (p.His656=)
|
rs144847027
|
0.00194
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
NM_016356.5(DCDC2):c.1208G>A (p.Arg403His)
|
rs139858268
|
0.00194
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=)
|
rs113454700
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_153717.3(EVC):c.93C>G (p.Ala31=)
|
rs866226288
|
0.00194
|
NM_181486.4(TBX5):c.114C>T (p.Ser38=)
|
rs34014008
|
0.00194
|
NM_182961.4(SYNE1):c.23461-6A>C
|
rs145098375
|
0.00194
|
NM_207361.6(FREM2):c.84C>G (p.Pro28=)
|
rs141718695
|
0.00194
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_000429.3(MAT1A):c.789C>T (p.Gly263=)
|
rs61734475
|
0.00193
|
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr)
|
rs140768346
|
0.00193
|
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys)
|
rs147165298
|
0.00193
|
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)
|
rs139912214
|
0.00193
|
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly)
|
rs147227015
|
0.00193
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)
|
rs368487246
|
0.00193
|
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=)
|
rs371410128
|
0.00193
|
NM_002473.6(MYH9):c.3485+8C>T
|
rs149559551
|
0.00193
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
NM_024757.5(EHMT1):c.480C>T (p.Gly160=)
|
rs150135875
|
0.00193
|
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)
|
rs149978500
|
0.00193
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)
|
rs141202530
|
0.00192
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)
|
rs149348130
|
0.00192
|
NM_020223.4(FAM20C):c.252C>A (p.Asn84Lys)
|
rs190382829
|
0.00192
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
NM_000392.5(ABCC2):c.159A>G (p.Lys53=)
|
rs17222596
|
0.00191
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)
|
rs113380721
|
0.00191
|
NM_004994.3(MMP9):c.886G>A (p.Gly296Ser)
|
rs144098289
|
0.00191
|
NM_005477.3(HCN4):c.3587G>A (p.Arg1196His)
|
rs147181577
|
0.00191
|
NM_005670.4(EPM2A):c.719-4G>A
|
rs145030227
|
0.00191
|
NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu)
|
rs145318018
|
0.00191
|
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu)
|
rs201234482
|
0.00191
|
NM_021072.4(HCN1):c.2172C>T (p.Ala724=)
|
rs56217199
|
0.00191
|
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly)
|
rs61749465
|
0.00191
|
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00191
|
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=)
|
rs149278319
|
0.00191
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=)
|
rs138264334
|
0.00191
|
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)
|
rs141235641
|
0.00191
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
NM_000363.5(TNNI3):c.550-10C>T
|
rs201240150
|
0.00190
|
NM_000384.3(APOB):c.751G>A (p.Ala251Thr)
|
rs61741625
|
0.00190
|
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)
|
rs121907970
|
0.00190
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_001102608.3(COL6A6):c.4300G>T (p.Gly1434Ter)
|
rs140872639
|
0.00190
|
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)
|
rs45567240
|
0.00190
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg)
|
rs61751972
|
0.00190
|
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)
|
rs117685425
|
0.00190
|
NM_005045.4(RELN):c.8120-9T>C
|
rs74952625
|
0.00190
|
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)
|
rs145164937
|
0.00190
|
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)
|
rs34921128
|
0.00190
|
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=)
|
rs141797498
|
0.00190
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_000381.4(MID1):c.588C>G (p.Ala196=)
|
rs41303167
|
0.00189
|
NM_001110792.2(MECP2):c.618C>T (p.Ser206=)
|
rs61749711
|
0.00189
|
NM_001195263.2(PDZD7):c.2719-9C>A
|
rs184247824
|
0.00189
|
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)
|
rs149668487
|
0.00189
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_001377.3(DYNC2H1):c.5334+6G>A
|
rs372964069
|
0.00189
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
0.00189
|
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)
|
rs140899003
|
0.00189
|
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)
|
rs113498662
|
0.00189
|
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=)
|
rs77249928
|
0.00189
|
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn)
|
rs144586270
|
0.00189
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)
|
rs4253046
|
0.00188
|
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)
|
rs150378053
|
0.00188
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)
|
rs116572520
|
0.00188
|
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)
|
rs142317580
|
0.00188
|
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=)
|
rs142277193
|
0.00188
|
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn)
|
rs144327167
|
0.00188
|
NM_001854.4(COL11A1):c.3979-3T>C
|
rs138464908
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_005122.5(NR1I3):c.289C>T (p.Arg97Trp)
|
rs34161743
|
0.00188
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00188
|
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)
|
rs142458572
|
0.00188
|
NM_014920.5(CILK1):c.1419T>C (p.Tyr473=)
|
rs34168889
|
0.00188
|
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser)
|
rs77618751
|
0.00188
|
NM_024426.6(WT1):c.123G>C (p.Pro41=)
|
rs555140661
|
0.00188
|
NM_145691.4(ATPAF2):c.699C>T (p.Ala233=)
|
rs143705642
|
0.00188
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_152384.3(BBS5):c.750C>T (p.Ile250=)
|
rs76138485
|
0.00188
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_002473.6(MYH9):c.165C>T (p.Ile55=)
|
rs141948797
|
0.00187
|
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)
|
rs45572531
|
0.00187
|
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=)
|
rs201132710
|
0.00187
|
NM_018965.4(TREM2):c.469C>T (p.His157Tyr)
|
rs2234255
|
0.00187
|
NM_020549.5(CHAT):c.1248C>T (p.Asn416=)
|
rs116071049
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)
|
rs201214794
|
0.00187
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000329.3(RPE65):c.978G>T (p.Val326=)
|
rs61752907
|
0.00186
|
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys)
|
rs117664682
|
0.00186
|
NM_000540.3(RYR1):c.297G>A (p.Thr99=)
|
rs144241486
|
0.00186
|
NM_000709.4(BCKDHA):c.485-28G>A
|
rs114178789
|
0.00186
|
NM_001384732.1(CPLANE1):c.5738-6C>T
|
rs148634159
|
0.00186
|
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)
|
rs185149177
|
0.00186
|
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015
|
0.00186
|
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr)
|
rs76258939
|
0.00185
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=)
|
rs372582842
|
0.00185
|
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser)
|
rs147674680
|
0.00185
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
NM_005045.4(RELN):c.1377G>A (p.Arg459=)
|
rs73712207
|
0.00185
|
NM_005413.4(SIX3):c.720G>T (p.Ala240=)
|
rs191012035
|
0.00185
|
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu)
|
rs140402087
|
0.00185
|
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met)
|
rs145476116
|
0.00185
|
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)
|
rs3821945
|
0.00185
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_014780.5(CUL7):c.2645G>A (p.Arg882Gln)
|
rs45574335
|
0.00185
|
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=)
|
rs141521745
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_080680.3(COL11A2):c.2115+7T>C
|
rs186051366
|
0.00185
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_001089.3(ABCA3):c.954C>T (p.Ile318=)
|
rs35161127
|
0.00184
|
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)
|
rs149131555
|
0.00184
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)
|
rs28544073
|
0.00184
|
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=)
|
rs145280904
|
0.00184
|
NM_003611.3(OFD1):c.1654+8A>G
|
rs200767363
|
0.00184
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008
|
0.00184
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
NM_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
0.00183
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)
|
rs147884766
|
0.00183
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=)
|
rs149289227
|
0.00183
|
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=)
|
rs146747080
|
0.00183
|
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)
|
rs141195622
|
0.00183
|
NM_001378414.1(HDAC4):c.684G>A (p.Pro228=)
|
rs144387989
|
0.00183
|
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)
|
rs115003742
|
0.00183
|
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=)
|
rs144850468
|
0.00183
|
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)
|
rs142611198
|
0.00183
|
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=)
|
rs80356851
|
0.00183
|
NM_012210.4(TRIM32):c.558G>C (p.Gln186His)
|
rs117599771
|
0.00183
|
NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala)
|
rs144695853
|
0.00183
|
NM_017950.4(CCDC40):c.180G>A (p.Ala60=)
|
rs185006459
|
0.00183
|
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met)
|
rs33999936
|
0.00183
|
NM_030662.4(MAP2K2):c.580+6G>A
|
rs201435249
|
0.00183
|
NM_032119.4(ADGRV1):c.15343C>T (p.Leu5115=)
|
rs41304886
|
0.00183
|
NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427
|
0.00183
|
NM_201384.3(PLEC):c.4873G>A (p.Glu1625Lys)
|
rs187338487
|
0.00183
|
NM_203288.2(RP9):c.34G>A (p.Ala12Thr)
|
rs775870239
|
0.00183
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
NM_001083962.2(TCF4):c.73-3T>C
|
rs148658897
|
0.00182
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_002181.4(IHH):c.873G>A (p.Arg291=)
|
rs149554120
|
0.00182
|
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=)
|
rs11574420
|
0.00182
|
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=)
|
rs144863210
|
0.00182
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys)
|
rs112853262
|
0.00182
|
NM_015311.3(OBSL1):c.375G>A (p.Glu125=)
|
rs374656370
|
0.00182
|
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=)
|
rs114580597
|
0.00182
|
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)
|
rs200313391
|
0.00181
|
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=)
|
rs146512619
|
0.00181
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn)
|
rs184740744
|
0.00181
|
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr)
|
rs61754648
|
0.00181
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
NM_004839.4(HOMER2):c.363C>T (p.Ile121=)
|
rs11629943
|
0.00181
|
NM_014846.4(WASHC5):c.2771-7T>C
|
rs142685897
|
0.00181
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=)
|
rs144982584
|
0.00181
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
NM_177965.4(CFAP418):c.512T>G (p.Ile171Arg)
|
rs143893647
|
0.00181
|
NM_182914.3(SYNE2):c.20197G>A (p.Glu6733Lys)
|
rs150172232
|
0.00181
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
NM_000539.3(RHO):c.480C>A (p.Thr160=)
|
rs151063543
|
0.00180
|
NM_000540.3(RYR1):c.9555-9G>A
|
rs149569999
|
0.00180
|
NM_001130438.3(SPTAN1):c.3720-5T>G
|
rs200543425
|
0.00180
|
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=)
|
rs114179357
|
0.00180
|
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=)
|
rs140678848
|
0.00180
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_001378414.1(HDAC4):c.2163G>A (p.Ser721=)
|
rs61735030
|
0.00180
|
NM_001378414.1(HDAC4):c.222G>A (p.Glu74=)
|
rs145137674
|
0.00180
|
NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr)
|
rs116005499
|
0.00180
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_004817.4(TJP2):c.2691C>T (p.Pro897=)
|
rs149969431
|
0.00180
|
NM_005559.4(LAMA1):c.6354C>T (p.Val2118=)
|
rs150849018
|
0.00180
|
NM_006662.3(SRCAP):c.132C>T (p.Gly44=)
|
rs149628651
|
0.00180
|
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)
|
rs146398746
|
0.00180
|
NM_133261.3(GIPC3):c.132G>C (p.Ala44=)
|
rs80060313
|
0.00180
|
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro)
|
rs150573158
|
0.00180
|
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val)
|
rs142000273
|
0.00180
|
NM_198239.2(CCN6):c.533A>T (p.Asn178Ile)
|
rs35374349
|
0.00180
|
NM_000088.4(COL1A1):c.3531+10C>A
|
rs41316721
|
0.00179
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)
|
rs201884779
|
0.00179
|
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)
|
rs142648687
|
0.00179
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)
|
rs142563930
|
0.00179
|
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)
|
rs144682235
|
0.00179
|
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile)
|
rs150112560
|
0.00179
|
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg)
|
rs62636565
|
0.00179
|
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)
|
rs144200355
|
0.00179
|
NM_024301.5(FKRP):c.1179A>G (p.Val393=)
|
rs145894568
|
0.00179
|
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)
|
rs150807064
|
0.00179
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_000327.4(ROM1):c.812T>C (p.Met271Thr)
|
rs137950927
|
0.00178
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val)
|
rs147162838
|
0.00178
|
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)
|
rs148168366
|
0.00178
|
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=)
|
rs143944746
|
0.00178
|
NM_001145308.5(LRTOMT):c.397G>C (p.Ala133Pro)
|
rs76657474
|
0.00178
|
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)
|
rs144215383
|
0.00178
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)
|
rs143142227
|
0.00178
|
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=)
|
rs114736976
|
0.00178
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu)
|
rs79144888
|
0.00178
|
NM_006059.4(LAMC3):c.1630+5C>G
|
rs184221540
|
0.00178
|
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)
|
rs73541508
|
0.00178
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu)
|
rs79464236
|
0.00178
|
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=)
|
rs373069459
|
0.00178
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
NM_000443.4(ABCB4):c.456G>A (p.Lys152=)
|
rs147333055
|
0.00177
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_001369268.1(ACAN):c.4347C>T (p.Ser1449=)
|
rs60790354
|
0.00177
|
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)
|
rs114259687
|
0.00177
|
NM_001701.4(BAAT):c.843T>G (p.Ser281=)
|
rs140793591
|
0.00177
|
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr)
|
rs148591757
|
0.00177
|
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)
|
rs61759495
|
0.00177
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)
|
rs147458358
|
0.00177
|
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892
|
0.00177
|
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=)
|
rs150642468
|
0.00177
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00177
|
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)
|
rs139560004
|
0.00177
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)
|
rs149964491
|
0.00176
|
NM_000098.3(CPT2):c.341-16T>C
|
rs180830030
|
0.00176
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln)
|
rs33958176
|
0.00176
|
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=)
|
rs148415080
|
0.00176
|
NM_001161352.2(KCNMA1):c.2484+7G>A
|
rs13377017
|
0.00176
|
NM_001614.5(ACTG1):c.985-5T>C
|
rs370546734
|
0.00176
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)
|
rs140949805
|
0.00176
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)
|
rs151338404
|
0.00176
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
NM_031433.4(MFRP):c.773-9C>T
|
rs187321874
|
0.00176
|
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=)
|
rs149233888
|
0.00176
|
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)
|
rs150046979
|
0.00175
|
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)
|
rs141363186
|
0.00175
|
NM_000443.4(ABCB4):c.1893+6T>C
|
rs8187798
|
0.00175
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu)
|
rs143606483
|
0.00175
|
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=)
|
rs140279996
|
0.00175
|
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)
|
rs147132904
|
0.00175
|
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00175
|
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=)
|
rs78041051
|
0.00175
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)
|
rs141873759
|
0.00175
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val)
|
rs139940282
|
0.00175
|
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn)
|
rs60970824
|
0.00175
|
NM_005522.5(HOXA1):c.684A>G (p.Gln228=)
|
rs34462126
|
0.00175
|
NM_005529.7(HSPG2):c.959-5C>T
|
rs149574138
|
0.00175
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_006059.4(LAMC3):c.1520-6G>A
|
rs192031352
|
0.00175
|
NM_012144.4(DNAI1):c.81+5del
|
rs200411544
|
0.00175
|
NM_018941.4(CLN8):c.11C>T (p.Ala4Val)
|
rs147181589
|
0.00175
|
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His)
|
rs115199093
|
0.00175
|
NM_001353214.3(DYM):c.1717C>T (p.Leu573=)
|
rs145279594
|
0.00174
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)
|
rs114630202
|
0.00174
|
NM_002181.4(IHH):c.1051G>A (p.Val351Met)
|
rs143959492
|
0.00174
|
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)
|
rs59190330
|
0.00174
|
NM_018451.5(CPAP):c.2992-18G>T
|
rs67311635
|
0.00174
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=)
|
rs371271326
|
0.00174
|
NM_000268.4(NF2):c.1123-6C>T
|
rs147898623
|
0.00173
|
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met)
|
rs142573385
|
0.00173
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00173
|
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=)
|
rs113994614
|
0.00173
|
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His)
|
rs201672146
|
0.00173
|
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)
|
rs113169531
|
0.00173
|
NM_001953.5(TYMP):c.1290G>A (p.Arg430=)
|
rs570574111
|
0.00173
|
NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser)
|
rs556840308
|
0.00173
|
NM_002906.4(RDX):c.1487C>T (p.Ala496Val)
|
rs74983220
|
0.00173
|
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)
|
rs141235720
|
0.00173
|
NM_006486.3(FBLN1):c.1209C>T (p.Cys403=)
|
rs140586412
|
0.00173
|
NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu)
|
rs149709084
|
0.00173
|
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=)
|
rs72650721
|
0.00173
|
NM_020754.4(ARHGAP31):c.349-7T>G
|
rs200397968
|
0.00173
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=)
|
rs191249840
|
0.00173
|
NM_182943.3(PLOD2):c.-4G>A
|
rs79161810
|
0.00173
|
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=)
|
rs138628147
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)
|
rs189966800
|
0.00172
|
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=)
|
rs187691546
|
0.00172
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)
|
rs201563576
|
0.00172
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
NM_014639.4(SKIC3):c.1848A>G (p.Thr616=)
|
rs145518834
|
0.00172
|
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)
|
rs139633601
|
0.00172
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu)
|
rs200642524
|
0.00172
|
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu)
|
rs200742016
|
0.00172
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr)
|
rs72657309
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_002878.4(RAD51D):c.481-7G>A
|
rs145832514
|
0.00171
|
NM_005802.5(TOPORS):c.814A>G (p.Ile272Val)
|
rs115436019
|
0.00171
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile)
|
rs112829587
|
0.00171
|
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=)
|
rs73619386
|
0.00171
|
NM_201384.3(PLEC):c.1042-4A>G
|
rs112966803
|
0.00171
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
NM_000235.4(LIPA):c.756A>C (p.Ile252=)
|
rs145037134
|
0.00170
|
NM_000391.4(TPP1):c.1497T>C (p.Pro499=)
|
rs142672910
|
0.00170
|
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)
|
rs72773422
|
0.00170
|
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=)
|
rs114968951
|
0.00170
|
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)
|
rs45592239
|
0.00170
|
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)
|
rs190565627
|
0.00170
|
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=)
|
rs138956153
|
0.00170
|
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)
|
rs61733140
|
0.00170
|
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=)
|
rs138416613
|
0.00170
|
NM_004625.4(WNT7A):c.555C>T (p.Asn185=)
|
rs149363953
|
0.00170
|
NM_006662.3(SRCAP):c.5531C>G (p.Ser1844Cys)
|
rs78037619
|
0.00170
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser)
|
rs61750320
|
0.00170
|
NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp)
|
rs143258862
|
0.00170
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln)
|
rs2075164
|
0.00170
|
NM_030753.5(WNT3):c.429G>A (p.Ser143=)
|
rs148902716
|
0.00170
|
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)
|
rs143538947
|
0.00170
|
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile)
|
rs111353525
|
0.00170
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00170
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln)
|
rs144800506
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_001853.4(COL9A3):c.468C>T (p.Pro156=)
|
rs137979802
|
0.00169
|
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr)
|
rs17847484
|
0.00169
|
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
|
rs116541276
|
0.00169
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_133379.5(TTN):c.14820G>A (p.Val4940=)
|
rs145029589
|
0.00169
|
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_001130987.2(DYSF):c.3403-10G>A
|
rs116733194
|
0.00168
|
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=)
|
rs141476432
|
0.00168
|
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala)
|
rs192242889
|
0.00168
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=)
|
rs148008235
|
0.00168
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
NM_004727.3(SLC24A1):c.1131C>T (p.Thr377=)
|
rs199504782
|
0.00168
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_012254.3(SLC27A5):c.1125C>T (p.Gly375=)
|
rs144295671
|
0.00168
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His)
|
rs200623501
|
0.00168
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln)
|
rs145960317
|
0.00168
|
NM_177965.4(CFAP418):c.126G>C (p.Arg42=)
|
rs115853053
|
0.00168
|
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=)
|
rs142554239
|
0.00167
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser)
|
rs41290704
|
0.00167
|
NM_014319.5(LEMD3):c.862C>G (p.Arg288Gly)
|
rs144086377
|
0.00167
|
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=)
|
rs61746542
|
0.00167
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)
|
rs148387367
|
0.00167
|
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)
|
rs145467740
|
0.00166
|
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=)
|
rs145662546
|
0.00166
|
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)
|
rs76092524
|
0.00166
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp)
|
rs74482326
|
0.00166
|
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=)
|
rs147984237
|
0.00166
|
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)
|
rs146263125
|
0.00166
|
NM_001379286.1(ZNF423):c.87C>T (p.Ser29=)
|
rs116537749
|
0.00166
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_003106.4(SOX2):c.834C>T (p.Leu278=)
|
rs144530684
|
0.00166
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_004456.5(EZH2):c.1852-9A>G
|
rs199654408
|
0.00166
|
NM_005477.3(HCN4):c.1978+3G>T
|
rs113112855
|
0.00166
|
NM_012418.4(FSCN2):c.48C>T (p.Leu16=)
|
rs199668780
|
0.00166
|
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu)
|
rs144664865
|
0.00166
|
NM_016239.4(MYO15A):c.8841G>A (p.Leu2947=)
|
rs201809145
|
0.00166
|
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala)
|
rs201738818
|
0.00166
|
NM_033100.4(CDHR1):c.526-7C>G
|
rs190906755
|
0.00166
|
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=)
|
rs145415996
|
0.00166
|
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)
|
rs117480635
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_000214.3(JAG1):c.2301G>A (p.Thr767=)
|
rs147634857
|
0.00165
|
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys)
|
rs121434601
|
0.00165
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)
|
rs34718443
|
0.00165
|
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys)
|
rs201169452
|
0.00165
|
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)
|
rs373913240
|
0.00165
|
NM_001852.4(COL9A2):c.250-7T>C
|
rs146943340
|
0.00165
|
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu)
|
rs147173555
|
0.00165
|
NM_004608.4(TBX6):c.353+9C>A
|
rs369603655
|
0.00165
|
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile)
|
rs145940009
|
0.00165
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
NM_012418.4(FSCN2):c.357C>T (p.Ser119=)
|
rs189437871
|
0.00165
|
NM_018668.5(VPS33B):c.1701C>T (p.Leu567=)
|
rs146999653
|
0.00165
|
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
|
rs200133722
|
0.00165
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val)
|
rs150644209
|
0.00164
|
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser)
|
rs141625803
|
0.00164
|
NM_001164508.2(NEB):c.3639C>T (p.Val1213=)
|
rs74320183
|
0.00164
|
NM_001614.5(ACTG1):c.803-6C>T
|
rs199600452
|
0.00164
|
NM_003193.5(TBCE):c.394G>A (p.Val132Ile)
|
rs144448831
|
0.00164
|
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr)
|
rs142756983
|
0.00164
|
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)
|
rs8192671
|
0.00164
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_201384.3(PLEC):c.2551G>A (p.Val851Met)
|
rs200647397
|
0.00164
|
NM_201548.5(CERKL):c.27G>A (p.Arg9=)
|
rs368855330
|
0.00164
|
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)
|
rs11570351
|
0.00164
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
NM_000142.5(FGFR3):c.169G>A (p.Val57Met)
|
rs61735064
|
0.00163
|
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)
|
rs148091558
|
0.00163
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_000719.7(CACNA1C):c.4624-9C>T
|
rs377568567
|
0.00163
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)
|
rs370597107
|
0.00163
|
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)
|
rs115813214
|
0.00163
|
NM_001304438.2(TMEM132E):c.1758C>T (p.Cys586=)
|
rs144692952
|
0.00163
|
NM_001482.3(GATM):c.669T>C (p.Tyr223=)
|
rs151231277
|
0.00163
|
NM_001701.4(BAAT):c.997A>G (p.Ser333Gly)
|
rs139829321
|
0.00163
|
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=)
|
rs141463437
|
0.00163
|
NM_002181.4(IHH):c.618C>T (p.Ala206=)
|
rs3731879
|
0.00163
|
NM_002900.3(RBP3):c.418G>A (p.Gly140Ser)
|
rs34932849
|
0.00163
|
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)
|
rs139590882
|
0.00163
|
NM_006493.4(CLN5):c.705G>A (p.Val235=)
|
rs116531784
|
0.00163
|
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)
|
rs35641267
|
0.00163
|
NM_080680.3(COL11A2):c.390G>C (p.Arg130=)
|
rs149638770
|
0.00163
|
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val)
|
rs35554630
|
0.00163
|
NM_178335.3(CCDC50):c.1203A>G (p.Lys401=)
|
rs146511344
|
0.00163
|
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val)
|
rs150589796
|
0.00163
|
NM_201525.4(ADGRG1):c.1287-28G>C
|
rs60624815
|
0.00163
|
NM_201548.5(CERKL):c.820+9G>A
|
rs189638090
|
0.00163
|
NM_000036.3(AMPD1):c.334G>A (p.Val112Met)
|
rs61741025
|
0.00162
|
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
|
rs116003670
|
0.00162
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_001159699.2(FHL1):c.489C>T (p.Asp163=)
|
rs149670651
|
0.00162
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
NM_004006.3(DMD):c.1483-7C>G
|
rs112463388
|
0.00162
|
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)
|
rs141859450
|
0.00162
|
NM_012208.4(HARS2):c.324T>C (p.Tyr108=)
|
rs143687204
|
0.00162
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_147127.5(EVC2):c.1471-6C>T
|
rs115466792
|
0.00162
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_000092.5(COL4A4):c.2056+10A>G
|
rs138869451
|
0.00161
|
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=)
|
rs140191388
|
0.00161
|
NM_001130987.2(DYSF):c.429C>T (p.Ser143=)
|
rs115390288
|
0.00161
|
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)
|
rs139879284
|
0.00161
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=)
|
rs140786324
|
0.00161
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_201384.3(PLEC):c.9558A>G (p.Thr3186=)
|
rs201102719
|
0.00161
|
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)
|
rs1800549
|
0.00160
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00160
|
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)
|
rs200936863
|
0.00160
|
NM_001089.3(ABCA3):c.2340C>T (p.His780=)
|
rs45620539
|
0.00160
|
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=)
|
rs184389316
|
0.00160
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_001931.5(DLAT):c.570A>G (p.Gln190=)
|
rs143107853
|
0.00160
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)
|
rs145433186
|
0.00160
|
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)
|
rs143730090
|
0.00160
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206
|
0.00160
|
NM_018979.4(WNK1):c.1074C>T (p.Thr358=)
|
rs72648621
|
0.00160
|
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)
|
rs77959215
|
0.00160
|
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser)
|
rs150545495
|
0.00160
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=)
|
rs144192700
|
0.00159
|
NM_000769.1(CYP2C19):c.358T>C (p.Trp120Arg)
|
rs41291556
|
0.00159
|
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val)
|
rs143072070
|
0.00159
|
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=)
|
rs201200682
|
0.00159
|
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)
|
rs190698163
|
0.00159
|
NM_001844.5(COL2A1):c.3003+9G>A
|
rs200403247
|
0.00159
|
NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly)
|
rs140735525
|
0.00159
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs11394094
|
0.00159
|
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)
|
rs112170602
|
0.00159
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)
|
rs200250181
|
0.00159
|
NM_025074.7(FRAS1):c.7029+7G>A
|
rs183687186
|
0.00159
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro)
|
rs147168661
|
0.00159
|
NM_153212.3(GJB4):c.495C>T (p.Ser165=)
|
rs147912521
|
0.00159
|
NM_201384.3(PLEC):c.2458-8C>T
|
rs201818691
|
0.00159
|
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_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000314.8(PTEN):c.1104T>C (p.Asp368=)
|
rs35979531
|
0.00158
|
NM_000321.3(RB1):c.380+10C>G
|
rs187110786
|
0.00158
|
NM_000383.4(AIRE):c.1567-5C>T
|
rs192215705
|
0.00158
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=)
|
rs139495331
|
0.00158
|
NM_001145715.3(KPNA7):c.1317+3G>A
|
rs138176387
|
0.00158
|
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln)
|
rs140118363
|
0.00158
|
NM_001235.5(SERPINH1):c.721+9T>C
|
rs138193444
|
0.00158
|
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met)
|
rs148616345
|
0.00158
|
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)
|
rs149200506
|
0.00158
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val)
|
rs34425379
|
0.00158
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
NM_013382.7(POMT2):c.1881G>A (p.Ala627=)
|
rs146588608
|
0.00158
|
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg)
|
rs183969516
|
0.00158
|
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met)
|
rs140778634
|
0.00158
|
NM_022437.3(ABCG8):c.1170G>A (p.Thr390=)
|
rs139902223
|
0.00158
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile)
|
rs190470017
|
0.00158
|
NM_201384.3(PLEC):c.3210G>A (p.Thr1070=)
|
rs375699173
|
0.00158
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn)
|
rs140907154
|
0.00157
|
NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu)
|
rs148247227
|
0.00157
|
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)
|
rs140014632
|
0.00157
|
NM_004817.4(TJP2):c.3342T>C (p.His1114=)
|
rs61753629
|
0.00157
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_018451.5(CPAP):c.175A>G (p.Thr59Ala)
|
rs138732534
|
0.00157
|
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)
|
rs151331381
|
0.00157
|
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=)
|
rs771501846
|
0.00157
|
NM_033337.3(CAV3):c.336C>T (p.Ile112=)
|
rs139985460
|
0.00157
|
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser)
|
rs190582637
|
0.00157
|
NM_201384.3(PLEC):c.6507G>A (p.Lys2169=)
|
rs199866902
|
0.00157
|
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=)
|
rs113358058
|
0.00157
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_000553.6(WRN):c.355+4G>C
|
rs145764920
|
0.00156
|
NM_000769.1(CYP2C19):c.1A>G (p.Met1Val)
|
rs28399504
|
0.00156
|
NM_001110556.2(FLNA):c.1429+8C>T
|
rs202181557
|
0.00156
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
NM_001458.5(FLNC):c.6991G>A (p.Val2331Met)
|
rs191288058
|
0.00156
|
NM_002335.4(LRP5):c.2295G>A (p.Ser765=)
|
rs140955013
|
0.00156
|
NM_005633.4(SOS1):c.2988G>A (p.Pro996=)
|
rs35462677
|
0.00156
|
NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=)
|
rs145197227
|
0.00156
|
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=)
|
rs144574076
|
0.00156
|
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=)
|
rs140063111
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=)
|
rs150807400
|
0.00156
|
NM_020800.3(IFT80):c.897G>A (p.Val299=)
|
rs145776235
|
0.00156
|
NM_022098.4(XPNPEP3):c.590-8A>G
|
rs143719656
|
0.00156
|
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln)
|
rs201294090
|
0.00156
|
NM_053025.4(MYLK):c.4289-4C>G
|
rs376670657
|
0.00156
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)
|
rs148411623
|
0.00155
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_000095.3(COMP):c.2262G>A (p.Leu754=)
|
rs150428337
|
0.00155
|
NM_000100.4(CSTB):c.*7C>G
|
rs201576714
|
0.00155
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00155
|
NM_000392.5(ABCC2):c.2073C>A (p.Val691=)
|
rs17222624
|
0.00155
|
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)
|
rs45596335
|
0.00155
|
NM_000540.3(RYR1):c.2622G>A (p.Ala874=)
|
rs149381996
|
0.00155
|
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr)
|
rs141709685
|
0.00155
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_001235.5(SERPINH1):c.267G>A (p.Thr89=)
|
rs139127426
|
0.00155
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_001379081.2(FREM1):c.1464C>T (p.Ser488=)
|
rs200064797
|
0.00155
|
NM_001845.6(COL4A1):c.1000-5T>G
|
rs75711155
|
0.00155
|
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)
|
rs146426296
|
0.00155
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=)
|
rs926074
|
0.00155
|
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys)
|
rs143294539
|
0.00155
|
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)
|
rs147586703
|
0.00155
|
NM_025009.5(CEP135):c.1740A>G (p.Arg580=)
|
rs59759676
|
0.00155
|
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)
|
rs143945573
|
0.00155
|
NM_130837.3(OPA1):c.2332-19C>A
|
rs77355463
|
0.00155
|
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)
|
rs201574539
|
0.00155
|
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)
|
rs61760167
|
0.00154
|
NM_000362.5(TIMP3):c.516C>T (p.Phe172=)
|
rs149161075
|
0.00154
|
NM_000408.5(GPD2):c.614C>T (p.Pro205Leu)
|
rs142821701
|
0.00154
|
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)
|
rs34526305
|
0.00154
|
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=)
|
rs139799727
|
0.00154
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala)
|
rs200017524
|
0.00154
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
NM_001918.5(DBT):c.175+37G>A
|
rs76902654
|
0.00154
|
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser)
|
rs199544459
|
0.00154
|
NM_005045.4(RELN):c.77C>T (p.Ala26Val)
|
rs144557847
|
0.00154
|
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)
|
rs139659618
|
0.00154
|
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val)
|
rs139640224
|
0.00154
|
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)
|
rs118187988
|
0.00154
|
NM_000128.4(F11):c.1305-9G>T
|
rs4253426
|
0.00153
|
NM_000245.4(MET):c.654G>A (p.Arg218=)
|
rs35284565
|
0.00153
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)
|
rs144051476
|
0.00153
|
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)
|
rs182505786
|
0.00153
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)
|
rs189202799
|
0.00153
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)
|
rs144747353
|
0.00153
|
NM_004006.3(DMD):c.8571T>C (p.Thr2857=)
|
rs72466570
|
0.00153
|
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)
|
rs151316028
|
0.00153
|
NM_006941.4(SOX10):c.822C>T (p.Gly274=)
|
rs147334218
|
0.00153
|
NM_012301.4(MAGI2):c.2213G>A (p.Arg738Gln)
|
rs145722885
|
0.00153
|
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile)
|
rs12069578
|
0.00153
|
NM_015295.3(SMCHD1):c.2913+6C>G
|
rs186678728
|
0.00153
|
NM_017780.4(CHD7):c.712G>A (p.Val238Met)
|
rs200898742
|
0.00153
|
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln)
|
rs143822761
|
0.00153
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)
|
rs148480919
|
0.00153
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
NM_030665.4(RAI1):c.1656C>T (p.Ser552=)
|
rs148309343
|
0.00153
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu)
|
rs150877886
|
0.00153
|
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)
|
rs200239963
|
0.00153
|
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=)
|
rs200895343
|
0.00153
|
NM_000327.4(ROM1):c.81G>T (p.Leu27=)
|
rs148196509
|
0.00152
|
NM_000618.5(IGF1):c.207G>A (p.Arg69=)
|
rs147960415
|
0.00152
|
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)
|
rs121912280
|
0.00152
|
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=)
|
rs145304925
|
0.00152
|
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)
|
rs145709687
|
0.00152
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)
|
rs146044282
|
0.00152
|
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile)
|
rs144322413
|
0.00152
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)
|
rs200620291
|
0.00152
|
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln)
|
rs71578935
|
0.00152
|
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127
|
0.00152
|
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn)
|
rs142232675
|
0.00152
|
NM_133259.4(LRPPRC):c.3275+7G>A
|
rs111392631
|
0.00152
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)
|
rs185594460
|
0.00151
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
NM_001105206.3(LAMA4):c.4822-3C>T
|
rs191447048
|
0.00151
|
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)
|
rs144060377
|
0.00151
|
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)
|
rs45617636
|
0.00151
|
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)
|
rs184545774
|
0.00151
|
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)
|
rs199805060
|
0.00151
|
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)
|
rs140830294
|
0.00151
|
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile)
|
rs41529445
|
0.00151
|
NM_007126.5(VCP):c.79A>G (p.Ile27Val)
|
rs140913250
|
0.00151
|
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)
|
rs148453565
|
0.00151
|
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly)
|
rs182332665
|
0.00151
|
NM_021167.5(GATAD1):c.762G>A (p.Gly254=)
|
rs139637606
|
0.00151
|
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)
|
rs61999270
|
0.00151
|
NM_133379.5(TTN):c.15228C>A (p.Pro5076=)
|
rs143135505
|
0.00151
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile)
|
rs141479751
|
0.00150
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=)
|
rs143223159
|
0.00150
|
NM_001035.3(RYR2):c.2301G>T (p.Ser767=)
|
rs117588730
|
0.00150
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=)
|
rs139329447
|
0.00150
|
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=)
|
rs147066476
|
0.00150
|
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln)
|
rs143163513
|
0.00150
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00150
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)
|
rs138886791
|
0.00150
|
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)
|
rs77562287
|
0.00150
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_024757.5(EHMT1):c.354T>G (p.Ser118=)
|
rs142271310
|
0.00150
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)
|
rs145726393
|
0.00150
|
NM_201384.3(PLEC):c.3543C>T (p.Val1181=)
|
rs202185399
|
0.00150
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter)
|
rs4986893
|
0.00149
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)
|
rs183521702
|
0.00149
|
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn)
|
rs147623238
|
0.00149
|
NM_001845.6(COL4A1):c.1466-6C>T
|
rs183563055
|
0.00149
|
NM_004612.4(TGFBR1):c.-2C>T
|
rs200224304
|
0.00149
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00149
|
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
|
rs143796569
|
0.00149
|
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)
|
rs369083434
|
0.00149
|
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=)
|
rs144803723
|
0.00149
|
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=)
|
rs144843013
|
0.00149
|
NM_201384.3(PLEC):c.8625C>T (p.Pro2875=)
|
rs183401234
|
0.00149
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000492.4(CFTR):c.1393-42G>A
|
rs34906874
|
0.00148
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe)
|
rs4987238
|
0.00148
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00148
|
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)
|
rs117440569
|
0.00148
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_001353214.3(DYM):c.620+4T>G
|
rs201652921
|
0.00148
|
NM_001378452.1(ITPR1):c.2007-3T>C
|
rs200335594
|
0.00148
|
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr)
|
rs149629209
|
0.00148
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_012418.4(FSCN2):c.1230C>T (p.Asp410=)
|
rs182593453
|
0.00148
|
NM_013382.7(POMT2):c.1683T>C (p.Asn561=)
|
rs146307965
|
0.00148
|
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=)
|
rs192683347
|
0.00148
|
NM_018451.5(CPAP):c.646T>C (p.Cys216Arg)
|
rs143260721
|
0.00148
|
NM_145200.5(CABP4):c.155G>A (p.Arg52Gln)
|
rs145789542
|
0.00148
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=)
|
rs146028040
|
0.00147
|
NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu)
|
rs187273709
|
0.00147
|
NM_001134831.2(AHI1):c.72T>C (p.Ser24=)
|
rs73777558
|
0.00147
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
NM_001298.3(CNGA3):c.198C>T (p.Thr66=)
|
rs139544302
|
0.00147
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
NM_004183.4(BEST1):c.637-6C>T
|
rs62639356
|
0.00147
|
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)
|
rs182139018
|
0.00147
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00147
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=)
|
rs114941150
|
0.00147
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
NM_000843.4(GRM6):c.1732C>T (p.Arg578Cys)
|
rs62638210
|
0.00146
|
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)
|
rs201894544
|
0.00146
|
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys)
|
rs187662524
|
0.00146
|
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)
|
rs145204073
|
0.00146
|
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)
|
rs72650040
|
0.00146
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe)
|
rs200215171
|
0.00146
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=)
|
rs137973298
|
0.00146
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)
|
rs141553756
|
0.00146
|
NM_002693.3(POLG):c.1890C>T (p.Asn630=)
|
rs148658588
|
0.00146
|
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)
|
rs72468667
|
0.00146
|
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)
|
rs139067427
|
0.00146
|
NM_020436.5(SALL4):c.2376T>C (p.Asn792=)
|
rs143601538
|
0.00146
|
NM_024596.5(MCPH1):c.2250G>T (p.Pro750=)
|
rs370202384
|
0.00146
|
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr)
|
rs78104547
|
0.00146
|
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=)
|
rs150451099
|
0.00146
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser)
|
rs202040785
|
0.00146
|
NM_201384.3(PLEC):c.8509G>A (p.Glu2837Lys)
|
rs199661077
|
0.00146
|
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)
|
rs146588336
|
0.00145
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu)
|
rs201612257
|
0.00145
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)
|
rs138464813
|
0.00145
|
NM_001267550.2(TTN):c.10104T>G (p.Val3368=)
|
rs142460433
|
0.00145
|
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)
|
rs72648972
|
0.00145
|
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=)
|
rs200248561
|
0.00145
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_003742.4(ABCB11):c.156G>A (p.Arg52=)
|
rs140587295
|
0.00145
|
NM_003742.4(ABCB11):c.1791G>T (p.Val597=)
|
rs11568371
|
0.00145
|
NM_004817.4(TJP2):c.61-6A>T
|
rs200415824
|
0.00145
|
NM_005670.4(EPM2A):c.129C>G (p.Ala43=)
|
rs547147183
|
0.00145
|
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)
|
rs115049252
|
0.00145
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00145
|
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn)
|
rs55952751
|
0.00145
|
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)
|
rs144701688
|
0.00145
|
NM_022436.3(ABCG5):c.696C>T (p.Val232=)
|
rs72796720
|
0.00145
|
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)
|
rs146131711
|
0.00145
|
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe)
|
rs149334244
|
0.00145
|
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=)
|
rs61741955
|
0.00145
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)
|
rs141787212
|
0.00145
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=)
|
rs116087798
|
0.00145
|
NM_000156.6(GAMT):c.392-7C>T
|
rs192416474
|
0.00144
|
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe)
|
rs41313031
|
0.00144
|
NM_000381.4(MID1):c.1266C>T (p.Thr422=)
|
rs148477118
|
0.00144
|
NM_000539.3(RHO):c.381C>G (p.Ser127=)
|
rs146311684
|
0.00144
|
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)
|
rs2227898
|
0.00144
|
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)
|
rs202040332
|
0.00144
|
NM_001848.3(COL6A1):c.588+8C>G
|
rs398123638
|
0.00144
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_003846.3(PEX11B):c.483A>G (p.Gly161=)
|
rs148000769
|
0.00144
|
NM_004281.4(BAG3):c.1587C>T (p.Ala529=)
|
rs149358702
|
0.00144
|
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala)
|
rs143817389
|
0.00144
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_024301.5(FKRP):c.567C>T (p.Pro189=)
|
rs201454433
|
0.00144
|
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)
|
rs138661755
|
0.00144
|
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)
|
rs143877028
|
0.00144
|
NM_201384.3(PLEC):c.6408G>A (p.Glu2136=)
|
rs200444977
|
0.00144
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=)
|
rs144283422
|
0.00143
|
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)
|
rs2230029
|
0.00143
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met)
|
rs148050566
|
0.00143
|
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=)
|
rs112874177
|
0.00143
|
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=)
|
rs540923047
|
0.00143
|
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)
|
rs147263499
|
0.00143
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)
|
rs186541002
|
0.00143
|
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=)
|
rs10268251
|
0.00143
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg)
|
rs147694734
|
0.00143
|
NM_012301.4(MAGI2):c.219C>T (p.Pro73=)
|
rs148240352
|
0.00143
|
NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=)
|
rs74117504
|
0.00143
|
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)
|
rs147485641
|
0.00143
|
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser)
|
rs61750441
|
0.00143
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
0.00142
|
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)
|
rs141575580
|
0.00142
|
NM_000326.5(RLBP1):c.141+6G>A
|
rs181321141
|
0.00142
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln)
|
rs150834672
|
0.00142
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=)
|
rs113542201
|
0.00142
|
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile)
|
rs200926181
|
0.00142
|
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
|
rs111033480
|
0.00142
|
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly)
|
rs72542427
|
0.00142
|
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)
|
rs55775473
|
0.00141
|
NM_000744.7(CHRNA4):c.77-4G>A
|
rs201123897
|
0.00141
|
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=)
|
rs200195310
|
0.00141
|
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile)
|
rs77072552
|
0.00141
|
NM_001130823.3(DNMT1):c.81-3C>T
|
rs76503110
|
0.00141
|
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu)
|
rs150733188
|
0.00141
|
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=)
|
rs6706088
|
0.00141
|
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)
|
rs148849567
|
0.00141
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=)
|
rs77144869
|
0.00141
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)
|
rs144329079
|
0.00141
|
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=)
|
rs141095352
|
0.00141
|
NM_017882.3(CLN6):c.339G>A (p.Thr113=)
|
rs146135801
|
0.00141
|
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)
|
rs150516342
|
0.00141
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)
|
rs201655861
|
0.00141
|
NM_207361.6(FREM2):c.5642-9T>C
|
rs148794835
|
0.00141
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
NM_000540.3(RYR1):c.11141+7A>G
|
rs78350770
|
0.00140
|
NM_000540.3(RYR1):c.2919C>T (p.His973=)
|
rs139363830
|
0.00140
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser)
|
rs140161845
|
0.00140
|
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile)
|
rs149316006
|
0.00140
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)
|
rs202106628
|
0.00140
|
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)
|
rs181306086
|
0.00140
|
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=)
|
rs149070858
|
0.00140
|
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=)
|
rs114797034
|
0.00140
|
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)
|
rs114684479
|
0.00140
|
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=)
|
rs142951817
|
0.00140
|
NM_014425.5(INVS):c.913G>A (p.Val305Ile)
|
rs116438342
|
0.00140
|
NM_014780.5(CUL7):c.861G>A (p.Gly287=)
|
rs61750322
|
0.00140
|
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His)
|
rs112762655
|
0.00140
|
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=)
|
rs146306059
|
0.00140
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)
|
rs200510462
|
0.00140
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)
|
rs115076367
|
0.00140
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)
|
rs139590550
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)
|
rs35820023
|
0.00139
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_001077415.3(CRELD1):c.320G>A (p.Arg107His)
|
rs28941780
|
0.00139
|
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=)
|
rs74975380
|
0.00139
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln)
|
rs200435937
|
0.00138
|
NM_000492.4(CFTR):c.4243-5C>T
|
rs114402068
|
0.00138
|
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=)
|
rs148667984
|
0.00138
|
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
|
rs199784029
|
0.00138
|
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
|
rs141226650
|
0.00138
|
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=)
|
rs140670994
|
0.00138
|
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)
|
rs200155519
|
0.00138
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)
|
rs34932223
|
0.00138
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_005634.3(SOX3):c.603G>A (p.Lys201=)
|
rs138530785
|
0.00138
|
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)
|
rs144822294
|
0.00138
|
NM_017807.4(OSGEP):c.355C>T (p.Leu119Phe)
|
rs147548960
|
0.00138
|
NM_020975.6(RET):c.654G>A (p.Pro218=)
|
rs137928436
|
0.00138
|
NM_021116.4(ADCY1):c.2694C>T (p.Asn898=)
|
rs61735492
|
0.00138
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00138
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)
|
rs141741640
|
0.00138
|
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys)
|
rs148997223
|
0.00138
|
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)
|
rs150248985
|
0.00138
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
NM_000428.3(LTBP2):c.4905G>C (p.Leu1635=)
|
rs144520047
|
0.00137
|
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr)
|
rs139749569
|
0.00137
|
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)
|
rs28931570
|
0.00137
|
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His)
|
rs11882073
|
0.00137
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=)
|
rs145322467
|
0.00137
|
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)
|
rs142874389
|
0.00137
|
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His)
|
rs139991238
|
0.00137
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_001378609.3(OTOGL):c.3213+10C>T
|
rs201373228
|
0.00137
|
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu)
|
rs377368588
|
0.00137
|
NM_001458.5(FLNC):c.1698C>T (p.Ser566=)
|
rs112194548
|
0.00137
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr)
|
rs79708790
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp)
|
rs141433824
|
0.00137
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys)
|
rs151050191
|
0.00137
|
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)
|
rs202211640
|
0.00137
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=)
|
rs199802825
|
0.00136
|
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys)
|
rs759725715
|
0.00136
|
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)
|
rs75133741
|
0.00136
|
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)
|
rs140221316
|
0.00136
|
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=)
|
rs142775086
|
0.00136
|
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser)
|
rs117433399
|
0.00136
|
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe)
|
rs905287265
|
0.00136
|
NM_020549.5(CHAT):c.909C>T (p.His303=)
|
rs76570508
|
0.00136
|
NM_030665.4(RAI1):c.3655C>T (p.Leu1219Phe)
|
rs151290050
|
0.00136
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_000292.3(PHKA2):c.742A>C (p.Arg248=)
|
rs149219369
|
0.00135
|
NM_000325.6(PITX2):c.819G>A (p.Pro273=)
|
rs148191851
|
0.00135
|
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=)
|
rs189042259
|
0.00135
|
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=)
|
rs201592993
|
0.00135
|
NM_001378477.3(NYX):c.1188G>A (p.Pro396=)
|
rs139558261
|
0.00135
|
NM_001429.4(EP300):c.5061+10G>A
|
rs78432056
|
0.00135
|
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378
|
0.00135
|
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)
|
rs141280063
|
0.00135
|
NM_006019.4(TCIRG1):c.528C>A (p.Pro176=)
|
rs538805960
|
0.00135
|
NM_012254.3(SLC27A5):c.899-6C>T
|
rs200114980
|
0.00135
|
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)
|
rs147529965
|
0.00135
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)
|
rs137978109
|
0.00135
|
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)
|
rs183447491
|
0.00135
|
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp)
|
rs201146062
|
0.00135
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000208.4(INSR):c.2736G>A (p.Arg912=)
|
rs147125937
|
0.00134
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)
|
rs143582502
|
0.00134
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
NM_001164508.2(NEB):c.1206C>T (p.Cys402=)
|
rs199695976
|
0.00134
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)
|
rs146767076
|
0.00134
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00134
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=)
|
rs138976133
|
0.00134
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)
|
rs34279942
|
0.00134
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
NM_025074.7(FRAS1):c.4958C>T (p.Pro1653Leu)
|
rs6813102
|
0.00134
|
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)
|
rs149510892
|
0.00134
|
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly)
|
rs141315921
|
0.00134
|
NM_201384.3(PLEC):c.174+10del
|
rs528031000
|
0.00134
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_000258.3(MYL3):c.81T>C (p.Pro27=)
|
rs147584015
|
0.00133
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly)
|
rs202059880
|
0.00133
|
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=)
|
rs149318543
|
0.00133
|
NM_001170629.2(CHD8):c.5390+10A>T
|
rs181227407
|
0.00133
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)
|
rs200431386
|
0.00133
|
NM_001267550.2(TTN):c.16621+7A>T
|
rs10200398
|
0.00133
|
NM_001267550.2(TTN):c.17183-9T>C
|
rs141687561
|
0.00133
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00133
|
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu)
|
rs369297699
|
0.00133
|
NM_001458.5(FLNC):c.6005-9T>C
|
rs118124743
|
0.00133
|
NM_001851.6(COL9A1):c.1288-9A>G
|
rs181039243
|
0.00133
|
NM_002133.3(HMOX1):c.330C>T (p.Ala110=)
|
rs150515195
|
0.00133
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
NM_006790.3(MYOT):c.981T>C (p.Asn327=)
|
rs148479015
|
0.00133
|
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)
|
rs116192442
|
0.00133
|
NM_007317.3(KIF22):c.12C>T (p.Gly4=)
|
rs374699250
|
0.00133
|
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=)
|
rs147427344
|
0.00133
|
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln)
|
rs146051561
|
0.00133
|
NM_022455.5(NSD1):c.2835T>C (p.Ser945=)
|
rs145987330
|
0.00133
|
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu)
|
rs199510509
|
0.00133
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=)
|
rs80069610
|
0.00133
|
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)
|
rs150550701
|
0.00133
|
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His)
|
rs144596211
|
0.00133
|
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)
|
rs35379711
|
0.00133
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_000276.4(OCRL):c.39+10G>A
|
rs765141317
|
0.00132
|
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)
|
rs150570281
|
0.00132
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)
|
rs142614369
|
0.00132
|
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)
|
rs144256966
|
0.00132
|
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)
|
rs182151153
|
0.00132
|
NM_001200.4(BMP2):c.552G>A (p.Ser184=)
|
rs142811428
|
0.00132
|
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)
|
rs191066933
|
0.00132
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_004415.4(DSP):c.3696C>A (p.Ser1232=)
|
rs141120358
|
0.00132
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser)
|
rs376451611
|
0.00132
|
NM_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu)
|
rs2233062
|
0.00132
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)
|
rs140927945
|
0.00132
|
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)
|
rs187011732
|
0.00132
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala)
|
rs145163157
|
0.00131
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=)
|
rs144708625
|
0.00131
|
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=)
|
rs577913880
|
0.00131
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln)
|
rs201636548
|
0.00131
|
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=)
|
rs138062080
|
0.00131
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)
|
rs114012742
|
0.00131
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu)
|
rs1869780
|
0.00131
|
NM_014140.4(SMARCAL1):c.2528+5G>C
|
rs145908212
|
0.00131
|
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser)
|
rs547548078
|
0.00131
|
NM_019066.5(MAGEL2):c.406G>A (p.Gly136Arg)
|
rs570335069
|
0.00131
|
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
|
rs139020143
|
0.00131
|
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)
|
rs143236410
|
0.00131
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858
|
0.00131
|
NM_000875.5(IGF1R):c.3918C>T (p.Asp1306=)
|
rs34364279
|
0.00130
|
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)
|
rs140353002
|
0.00130
|
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)
|
rs56812642
|
0.00130
|
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=)
|
rs78807992
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_006201.5(CDK16):c.727C>T (p.Leu243=)
|
rs145117961
|
0.00130
|
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg)
|
rs201373710
|
0.00130
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe)
|
rs151121191
|
0.00130
|
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr)
|
rs57351269
|
0.00129
|
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=)
|
rs141974120
|
0.00129
|
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg)
|
rs145453157
|
0.00129
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00129
|
NM_001267550.2(TTN):c.32555-6T>C
|
rs375742678
|
0.00129
|
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His)
|
rs201261243
|
0.00129
|
NM_001365951.3(KIF1B):c.2115+6625G>A
|
rs145248590
|
0.00129
|
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)
|
rs370627443
|
0.00129
|
NM_001492.6(GDF1):c.55C>G (p.Leu19Val)
|
rs370986101
|
0.00129
|
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=)
|
rs146588152
|
0.00129
|
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)
|
rs121909075
|
0.00129
|
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr)
|
rs200914260
|
0.00129
|
NM_006306.4(SMC1A):c.1545+4A>C
|
rs377270943
|
0.00129
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_133379.5(TTN):c.14214C>T (p.Thr4738=)
|
rs147513899
|
0.00129
|
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile)
|
rs150016894
|
0.00129
|
NM_145239.3(PRRT2):c.612C>G (p.Pro204=)
|
rs149260055
|
0.00129
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_201384.3(PLEC):c.12876G>A (p.Val4292=)
|
rs199509259
|
0.00129
|
NM_000159.4(GCDH):c.1143C>T (p.Ile381=)
|
rs142553521
|
0.00128
|
NM_000929.3(PLA2G5):c.312T>C (p.His104=)
|
rs149833360
|
0.00128
|
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn)
|
rs201093148
|
0.00128
|
NM_001267550.2(TTN):c.1002C>T (p.Thr334=)
|
rs148094198
|
0.00128
|
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)
|
rs73019664
|
0.00128
|
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=)
|
rs201310509
|
0.00128
|
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys)
|
rs149534094
|
0.00128
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=)
|
rs139416105
|
0.00128
|
NM_002693.3(POLG):c.2735-7C>G
|
rs200372494
|
0.00128
|
NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)
|
rs149620809
|
0.00128
|
NM_004530.6(MMP2):c.1858G>A (p.Val620Ile)
|
rs41459945
|
0.00128
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_007254.4(PNKP):c.831G>A (p.Thr277=)
|
rs148491228
|
0.00128
|
NM_014875.3(KIF14):c.346G>A (p.Glu116Lys)
|
rs141768593
|
0.00128
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)
|
rs150062167
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)
|
rs41562713
|
0.00127
|
NM_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_000631.5(NCF4):c.271+7G>A
|
rs201881905
|
0.00127
|
NM_000843.4(GRM6):c.1944G>T (p.Ala648=)
|
rs62638619
|
0.00127
|
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)
|
rs61736168
|
0.00127
|
NM_001110556.2(FLNA):c.6023-10C>G
|
rs72616474
|
0.00127
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr)
|
rs548278514
|
0.00127
|
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)
|
rs79392371
|
0.00127
|
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=)
|
rs140926445
|
0.00127
|
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala)
|
rs151043891
|
0.00127
|
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu)
|
rs185660524
|
0.00127
|
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=)
|
rs61735808
|
0.00127
|
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp)
|
rs140524715
|
0.00127
|
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)
|
rs186266220
|
0.00127
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)
|
rs144973796
|
0.00127
|
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys)
|
rs143088941
|
0.00127
|
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)
|
rs138032057
|
0.00127
|
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile)
|
rs139779680
|
0.00127
|
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly)
|
rs146685625
|
0.00127
|
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=)
|
rs146436765
|
0.00126
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00126
|
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)
|
rs139698110
|
0.00126
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
NM_001127255.2(NLRP7):c.1082C>T (p.Ser361Leu)
|
rs143169084
|
0.00126
|
NM_001458.5(FLNC):c.1813+11G>T
|
rs138716837
|
0.00126
|
NM_002025.4(AFF2):c.3696A>T (p.Pro1232=)
|
rs35967616
|
0.00126
|
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)
|
rs144289912
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_005249.5(FOXG1):c.447C>T (p.Ala149=)
|
rs112803404
|
0.00126
|
NM_005476.7(GNE):c.1872G>A (p.Ala624=)
|
rs145361930
|
0.00126
|
NM_006269.2(RP1):c.6024A>G (p.Lys2008=)
|
rs147680018
|
0.00126
|
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)
|
rs145319149
|
0.00126
|
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=)
|
rs186639101
|
0.00126
|
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile)
|
rs138339125
|
0.00126
|
NM_181303.2(NLGN3):c.2034C>T (p.Tyr678=)
|
rs143055854
|
0.00126
|
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)
|
rs138004884
|
0.00126
|
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile)
|
rs150807452
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_000327.4(ROM1):c.47G>A (p.Arg16His)
|
rs143166696
|
0.00125
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00125
|
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser)
|
rs10227922
|
0.00125
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00125
|
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly)
|
rs529972175
|
0.00125
|
NM_002024.6(FMR1):c.1572C>T (p.Ser524=)
|
rs143889976
|
0.00125
|
NM_002900.3(RBP3):c.63C>T (p.His21=)
|
rs146038948
|
0.00125
|
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
|
rs148970984
|
0.00125
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
NM_014028.4(OSTM1):c.143C>G (p.Ser48Trp)
|
rs201176284
|
0.00125
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
NM_018714.3(COG1):c.401C>T (p.Ser134Leu)
|
rs146066919
|
0.00125
|
NM_021120.4(DLG3):c.409-4G>T
|
rs188475429
|
0.00125
|
NM_030973.4(MED25):c.396C>T (p.Arg132=)
|
rs142353864
|
0.00125
|
NM_057176.3(BSND):c.189C>T (p.Val63=)
|
rs144505461
|
0.00125
|
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=)
|
rs201166370
|
0.00124
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr)
|
rs200507933
|
0.00124
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
NM_001378615.1(CC2D2A):c.2181+7A>C
|
rs143681243
|
0.00124
|
NM_001458.5(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
0.00124
|
NM_002334.4(LRP4):c.639C>T (p.Asp213=)
|
rs144974139
|
0.00124
|
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter)
|
rs144321381
|
0.00124
|
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val)
|
rs201931833
|
0.00124
|
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=)
|
rs183688784
|
0.00124
|
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)
|
rs72468692
|
0.00124
|
NM_004006.3(DMD):c.5265C>T (p.Pro1755=)
|
rs145515413
|
0.00124
|
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)
|
rs116690555
|
0.00124
|
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=)
|
rs61731405
|
0.00124
|
NM_004727.3(SLC24A1):c.2445C>T (p.His815=)
|
rs185027365
|
0.00124
|
NM_005445.4(SMC3):c.1671-6A>G
|
rs200848781
|
0.00124
|
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)
|
rs145883811
|
0.00124
|
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)
|
rs139037316
|
0.00124
|
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)
|
rs115488133
|
0.00124
|
NM_015102.5(NPHP4):c.800A>T (p.His267Leu)
|
rs201124357
|
0.00124
|
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)
|
rs183272965
|
0.00124
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_173602.3(DIP2B):c.2755C>A (p.Gln919Lys)
|
rs151181050
|
0.00124
|
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter)
|
rs200846354
|
0.00124
|
NM_198253.3(TERT):c.534C>T (p.Leu178=)
|
rs370420108
|
0.00124
|
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)
|
rs77846212
|
0.00123
|
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=)
|
rs143948870
|
0.00123
|
NM_000414.4(HSD17B4):c.1210-8T>C
|
rs34254740
|
0.00123
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687
|
0.00123
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00123
|
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060
|
0.00123
|
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys)
|
rs72647862
|
0.00123
|
NM_001376.5(DYNC1H1):c.9264-8T>G
|
rs368432468
|
0.00123
|
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=)
|
rs35692977
|
0.00123
|
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
|
rs61740537
|
0.00123
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)
|
rs76368635
|
0.00123
|
NM_003865.3(HESX1):c.525G>A (p.Ala175=)
|
rs141063672
|
0.00123
|
NM_004447.6(EPS8):c.1638C>T (p.Asn546=)
|
rs149455769
|
0.00123
|
NM_005045.4(RELN):c.3123C>T (p.Gly1041=)
|
rs41276148
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)
|
rs113443891
|
0.00123
|
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val)
|
rs144657822
|
0.00123
|
NM_016008.4(DYNC2LI1):c.508-4G>A
|
rs201151187
|
0.00123
|
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=)
|
rs141475629
|
0.00123
|
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)
|
rs11658164
|
0.00123
|
NM_021120.4(DLG3):c.429C>T (p.Phe143=)
|
rs144225009
|
0.00123
|
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)
|
rs139677898
|
0.00123
|
NM_030665.4(RAI1):c.840G>A (p.Gln280=)
|
rs398124421
|
0.00123
|
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)
|
rs200055351
|
0.00123
|
NM_133497.4(KCNV2):c.612G>A (p.Glu204=)
|
rs186159326
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_194248.3(OTOF):c.339C>T (p.Cys113=)
|
rs139098225
|
0.00123
|
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)
|
rs200898220
|
0.00123
|
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=)
|
rs61900036
|
0.00122
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00122
|
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=)
|
rs76270730
|
0.00122
|
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser)
|
rs146142715
|
0.00122
|
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr)
|
rs189893797
|
0.00122
|
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)
|
rs371075036
|
0.00122
|
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=)
|
rs371819104
|
0.00122
|
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)
|
rs141233891
|
0.00122
|
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met)
|
rs35524572
|
0.00122
|
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=)
|
rs139033413
|
0.00122
|
NM_006302.3(MOGS):c.2055T>C (p.Tyr685=)
|
rs202094225
|
0.00122
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)
|
rs146799286
|
0.00122
|
NM_014140.4(SMARCAL1):c.1851+5G>A
|
rs2066514
|
0.00122
|
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg)
|
rs201156458
|
0.00122
|
NM_000214.3(JAG1):c.909T>C (p.His303=)
|
rs139574260
|
0.00121
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=)
|
rs200718262
|
0.00121
|
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)
|
rs28940885
|
0.00121
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)
|
rs186499459
|
0.00121
|
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)
|
rs138231868
|
0.00121
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)
|
rs181166140
|
0.00121
|
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr)
|
rs35470719
|
0.00121
|
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)
|
rs147831309
|
0.00121
|
NM_002900.3(RBP3):c.299C>T (p.Pro100Leu)
|
rs143076262
|
0.00121
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_005343.4(HRAS):c.357C>T (p.Asp119=)
|
rs111352454
|
0.00121
|
NM_006445.4(PRPF8):c.52C>T (p.Leu18=)
|
rs148531352
|
0.00121
|
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro)
|
rs202000509
|
0.00121
|
NM_015102.5(NPHP4):c.3168C>T (p.His1056=)
|
rs376351293
|
0.00121
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)
|
rs144269892
|
0.00121
|
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)
|
rs140621272
|
0.00121
|
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=)
|
rs116197349
|
0.00121
|
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=)
|
rs112386774
|
0.00121
|
NM_153240.5(NPHP3):c.3570+9G>T
|
rs112749193
|
0.00121
|
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)
|
rs113364886
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=)
|
rs144929293
|
0.00121
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly)
|
rs17222674
|
0.00120
|
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)
|
rs200800133
|
0.00120
|
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg)
|
rs78310959
|
0.00120
|
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=)
|
rs189243324
|
0.00120
|
NM_001189.4(NKX3-2):c.520G>C (p.Val174Leu)
|
rs559539989
|
0.00120
|
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr)
|
rs201217824
|
0.00120
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=)
|
rs367643585
|
0.00120
|
NM_003193.5(TBCE):c.585C>T (p.Ser195=)
|
rs139440109
|
0.00120
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
NM_018668.5(VPS33B):c.357G>A (p.Lys119=)
|
rs146758743
|
0.00120
|
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=)
|
rs142858644
|
0.00120
|
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val)
|
rs143490747
|
0.00120
|
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)
|
rs112300370
|
0.00120
|
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
|
rs139747674
|
0.00120
|
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)
|
rs188739870
|
0.00120
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=)
|
rs79811945
|
0.00119
|
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)
|
rs140901235
|
0.00119
|
NM_001110792.2(MECP2):c.246C>T (p.Ser82=)
|
rs61754439
|
0.00119
|
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=)
|
rs78241448
|
0.00119
|
NM_001164508.2(NEB):c.12C>T (p.Asp4=)
|
rs117178114
|
0.00119
|
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00119
|
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)
|
rs200971254
|
0.00119
|
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly)
|
rs145245774
|
0.00119
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)
|
rs201069454
|
0.00119
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)
|
rs142441725
|
0.00119
|
NM_005677.4(COLQ):c.106+6T>C
|
rs201376373
|
0.00119
|
NM_014845.6(FIG4):c.627A>G (p.Leu209=)
|
rs140111406
|
0.00119
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00119
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)
|
rs11574410
|
0.00118
|
NM_001017995.3(SH3PXD2B):c.2541C>T (p.Ala847=)
|
rs143850475
|
0.00118
|
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile)
|
rs149519060
|
0.00118
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys)
|
rs3764758
|
0.00118
|
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=)
|
rs150544061
|
0.00118
|
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn)
|
rs200957146
|
0.00118
|
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln)
|
rs199862615
|
0.00118
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)
|
rs72646808
|
0.00118
|
NM_001793.6(CDH3):c.1681G>A (p.Val561Met)
|
rs151198926
|
0.00118
|
NM_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00118
|
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
|
rs143713841
|
0.00118
|
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)
|
rs149302006
|
0.00118
|
NM_003332.4(TYROBP):c.238C>T (p.Arg80Trp)
|
rs140188939
|
0.00118
|
NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser)
|
rs201280938
|
0.00118
|
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)
|
rs144641429
|
0.00118
|
NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His)
|
rs151184052
|
0.00118
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_014425.5(INVS):c.2310C>T (p.His770=)
|
rs116606949
|
0.00118
|
NM_014467.3(SRPX2):c.840G>A (p.Ala280=)
|
rs139377205
|
0.00118
|
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)
|
rs74957591
|
0.00118
|
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=)
|
rs147160053
|
0.00118
|
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)
|
rs121964926
|
0.00118
|
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)
|
rs142692981
|
0.00118
|
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser)
|
rs11556732
|
0.00118
|
NM_178452.6(DNAAF1):c.1031-5A>T
|
rs79772571
|
0.00118
|
NM_198253.3(TERT):c.2769G>A (p.Pro923=)
|
rs200174990
|
0.00118
|
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=)
|
rs148465219
|
0.00118
|
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met)
|
rs114400765
|
0.00118
|
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=)
|
rs529594203
|
0.00117
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_001037.5(SCN1B):c.588T>C (p.Asn196=)
|
rs77244433
|
0.00117
|
NM_001164508.2(NEB):c.8202C>T (p.Val2734=)
|
rs144595998
|
0.00117
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
0.00117
|
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln)
|
rs137885421
|
0.00117
|
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)
|
rs145644275
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_017777.4(MKS1):c.261+7C>T
|
rs200156751
|
0.00117
|
NM_020661.4(AICDA):c.48A>G (p.Lys16=)
|
rs186739900
|
0.00117
|
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
|
rs149506027
|
0.00117
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile)
|
rs142946078
|
0.00117
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile)
|
rs114320052
|
0.00116
|
NM_000255.4(MMUT):c.393G>A (p.Gln131=)
|
rs145682249
|
0.00116
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
NM_000426.4(LAMA2):c.255C>T (p.Ile85=)
|
rs142083777
|
0.00116
|
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)
|
rs45490792
|
0.00116
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val)
|
rs201681832
|
0.00116
|
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=)
|
rs6709752
|
0.00116
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_001354712.2(THRB):c.532+8G>C
|
rs146617205
|
0.00116
|
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu)
|
rs147195954
|
0.00116
|
NM_001457.4(FLNB):c.2493C>T (p.Pro831=)
|
rs145952210
|
0.00116
|
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)
|
rs376992044
|
0.00116
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_001853.4(COL9A3):c.891C>T (p.Ser297=)
|
rs142412708
|
0.00116
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr)
|
rs143484849
|
0.00116
|
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)
|
rs144832179
|
0.00116
|
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)
|
rs115333628
|
0.00116
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
NM_005506.4(SCARB2):c.246G>C (p.Arg82=)
|
rs35035064
|
0.00116
|
NM_006343.3(MERTK):c.960+9C>A
|
rs373198570
|
0.00116
|
NM_006383.4(CIB2):c.231G>A (p.Ala77=)
|
rs144346527
|
0.00116
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln)
|
rs117204561
|
0.00116
|
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln)
|
rs145303578
|
0.00116
|
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)
|
rs151103940
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly)
|
rs45590135
|
0.00116
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln)
|
rs200488179
|
0.00116
|
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)
|
rs149266909
|
0.00116
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr)
|
rs145968118
|
0.00115
|
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu)
|
rs41313681
|
0.00115
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=)
|
rs150380620
|
0.00115
|
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser)
|
rs201794404
|
0.00115
|
NM_001042432.2(CLN3):c.318C>T (p.Leu106=)
|
rs148248159
|
0.00115
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_001287.6(CLCN7):c.1806C>T (p.Tyr602=)
|
rs112753643
|
0.00115
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=)
|
rs146945932
|
0.00115
|
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=)
|
rs146020786
|
0.00115
|
NM_001807.6(CEL):c.2172del (p.Val725fs)
|
rs780419796
|
0.00115
|
NM_002024.6(FMR1):c.1857C>T (p.Asp619=)
|
rs45540244
|
0.00115
|
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)
|
rs138184483
|
0.00115
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)
|
rs140526335
|
0.00115
|
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu)
|
rs61735813
|
0.00115
|
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=)
|
rs150279426
|
0.00115
|
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu)
|
rs147326417
|
0.00115
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
NM_025074.7(FRAS1):c.108+10T>G
|
rs76831011
|
0.00115
|
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)
|
rs200187681
|
0.00115
|
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=)
|
rs146224907
|
0.00115
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)
|
rs76362149
|
0.00114
|
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His)
|
rs144717803
|
0.00114
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00114
|
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg)
|
rs201962649
|
0.00114
|
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)
|
rs145296488
|
0.00114
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=)
|
rs45445398
|
0.00114
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
NM_004183.4(BEST1):c.624G>A (p.Gln208=)
|
rs150247275
|
0.00114
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00114
|
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)
|
rs146325169
|
0.00114
|
NM_014780.5(CUL7):c.1067G>A (p.Arg356His)
|
rs146227929
|
0.00114
|
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg)
|
rs115594989
|
0.00114
|
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)
|
rs149121639
|
0.00114
|
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276
|
0.00114
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00113
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_000286.3(PEX12):c.452G>A (p.Arg151His)
|
rs150186509
|
0.00113
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00113
|
NM_001004334.4(GPR179):c.3401G>A (p.Arg1134Gln)
|
rs112987826
|
0.00113
|
NM_001083961.2(WDR62):c.3440A>G (p.Tyr1147Cys)
|
rs146867414
|
0.00113
|
NM_001110219.3(GJB6):c.15G>A (p.Thr5=)
|
rs150075979
|
0.00113
|
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)
|
rs141867897
|
0.00113
|
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)
|
rs201218828
|
0.00113
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=)
|
rs372019333
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile)
|
rs116448158
|
0.00113
|
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln)
|
rs138427861
|
0.00113
|
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)
|
rs151286835
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
NM_004006.3(DMD):c.2745A>C (p.Thr915=)
|
rs149922633
|
0.00113
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_004625.4(WNT7A):c.213C>T (p.Asp71=)
|
rs75651130
|
0.00113
|
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)
|
rs146256526
|
0.00113
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=)
|
rs200813566
|
0.00113
|
NM_030665.4(RAI1):c.972G>A (p.Pro324=)
|
rs138675466
|
0.00113
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His)
|
rs148546326
|
0.00113
|
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=)
|
rs111939130
|
0.00113
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00113
|
NM_000093.5(COL5A1):c.3204+3G>A
|
rs202054108
|
0.00112
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_000452.3(SLC10A2):c.66T>C (p.Pro22=)
|
rs138387807
|
0.00112
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile)
|
rs140918123
|
0.00112
|
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr)
|
rs147676363
|
0.00112
|
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)
|
rs144484744
|
0.00112
|
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)
|
rs148183839
|
0.00112
|
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
|
rs115259839
|
0.00112
|
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu)
|
rs61729175
|
0.00112
|
NM_080680.3(COL11A2):c.1612-10G>C
|
rs182657680
|
0.00112
|
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)
|
rs182120395
|
0.00112
|
NM_206933.4(USH2A):c.2094C>T (p.Thr698=)
|
rs141489104
|
0.00112
|
NM_000195.5(HPS1):c.198G>A (p.Ser66=)
|
rs115265574
|
0.00111
|
NM_000252.3(MTM1):c.339T>C (p.Cys113=)
|
rs147644722
|
0.00111
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=)
|
rs115800799
|
0.00111
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)
|
rs149697952
|
0.00111
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr)
|
rs142540692
|
0.00111
|
NM_001252024.2(TRPM1):c.2953A>C (p.Met985Leu)
|
rs181499296
|
0.00111
|
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp)
|
rs55857742
|
0.00111
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met)
|
rs143035953
|
0.00111
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00111
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)
|
rs145750280
|
0.00111
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)
|
rs141556170
|
0.00111
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
NM_002427.4(MMP13):c.1335C>T (p.Asn445=)
|
rs145432284
|
0.00111
|
NM_004530.6(MMP2):c.1569A>G (p.Val523=)
|
rs115179673
|
0.00111
|
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)
|
rs56198613
|
0.00111
|
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=)
|
rs143272701
|
0.00111
|
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)
|
rs147398904
|
0.00111
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=)
|
rs184650144
|
0.00111
|
NM_000274.4(OAT):c.969C>T (p.Tyr323=)
|
rs138895801
|
0.00110
|
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)
|
rs201835888
|
0.00110
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
0.00110
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)
|
rs200343420
|
0.00110
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=)
|
rs138882727
|
0.00110
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln)
|
rs141917910
|
0.00110
|
NM_004086.3(COCH):c.629+5C>T
|
rs202109231
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
|
rs149911553
|
0.00110
|
NM_006941.4(SOX10):c.72C>T (p.Ser24=)
|
rs763019569
|
0.00110
|
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)
|
rs11568178
|
0.00110
|
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=)
|
rs145869401
|
0.00110
|
NM_016239.4(MYO15A):c.9691-3C>A
|
rs142996507
|
0.00110
|
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)
|
rs764467903
|
0.00110
|
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=)
|
rs551187778
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)
|
rs11571652
|
0.00109
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000162.5(GCK):c.660C>T (p.Cys220=)
|
rs142952813
|
0.00109
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00109
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=)
|
rs45487992
|
0.00109
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
0.00109
|
NM_001164508.2(NEB):c.2283C>T (p.Ala761=)
|
rs373946448
|
0.00109
|
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His)
|
rs149001183
|
0.00109
|
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)
|
rs55832587
|
0.00109
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
NM_001304438.2(TMEM132E):c.1572C>T (p.Leu524=)
|
rs149974755
|
0.00109
|
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)
|
rs56402642
|
0.00109
|
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)
|
rs55923848
|
0.00109
|
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met)
|
rs34737149
|
0.00109
|
NM_002857.4(PEX19):c.181-5C>T
|
rs199818690
|
0.00109
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_015631.6(TCTN3):c.1591-5C>T
|
rs181107730
|
0.00109
|
NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu)
|
rs146969255
|
0.00109
|
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)
|
rs150327858
|
0.00109
|
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00109
|
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)
|
rs200990647
|
0.00109
|
NM_203486.3(DLL3):c.63C>T (p.Leu21=)
|
rs146255899
|
0.00109
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00108
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)
|
rs202106192
|
0.00108
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)
|
rs370336923
|
0.00108
|
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=)
|
rs139861062
|
0.00108
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=)
|
rs142873841
|
0.00108
|
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)
|
rs199560188
|
0.00108
|
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=)
|
rs370604524
|
0.00108
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
NM_001267550.2(TTN):c.16055-9A>C
|
rs368897883
|
0.00108
|
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)
|
rs371026448
|
0.00108
|
NM_001267550.2(TTN):c.91565-13C>T
|
rs200847757
|
0.00108
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)
|
rs140663434
|
0.00108
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=)
|
rs116413527
|
0.00108
|
NM_002335.4(LRP5):c.2193C>T (p.Asn731=)
|
rs147388442
|
0.00108
|
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=)
|
rs147637431
|
0.00108
|
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)
|
rs35759430
|
0.00108
|
NM_002979.5(SCP2):c.900C>T (p.Asp300=)
|
rs148423275
|
0.00108
|
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)
|
rs35339834
|
0.00108
|
NM_004415.4(DSP):c.2986-6T>A
|
rs144748036
|
0.00108
|
NM_004530.6(MMP2):c.759C>T (p.Ser253=)
|
rs148801200
|
0.00108
|
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)
|
rs142215888
|
0.00108
|
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp)
|
rs141692693
|
0.00108
|
NM_015426.5(POC1A):c.235G>A (p.Gly79Ser)
|
rs35249554
|
0.00108
|
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr)
|
rs144054758
|
0.00108
|
NM_022455.5(NSD1):c.339C>T (p.Cys113=)
|
rs77093936
|
0.00108
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu)
|
rs200053639
|
0.00108
|
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val)
|
rs41297069
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00108
|
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=)
|
rs374211586
|
0.00108
|
NM_201384.3(PLEC):c.7101G>A (p.Thr2367=)
|
rs202132558
|
0.00108
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)
|
rs147307031
|
0.00107
|
NM_000515.5(GH1):c.15C>T (p.Ser5=)
|
rs111957225
|
0.00107
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)
|
rs35090700
|
0.00107
|
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln)
|
rs188054898
|
0.00107
|
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
|
rs199652066
|
0.00107
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=)
|
rs143049740
|
0.00107
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
NM_001614.5(ACTG1):c.72C>T (p.Asp24=)
|
rs139517777
|
0.00107
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=)
|
rs147212187
|
0.00107
|
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys)
|
rs111482608
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile)
|
rs146772848
|
0.00107
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
NM_007294.4(BRCA1):c.765G>A (p.Glu255=)
|
rs62625299
|
0.00107
|
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=)
|
rs139243761
|
0.00107
|
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)
|
rs372349042
|
0.00107
|
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)
|
rs376665854
|
0.00107
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=)
|
rs140594137
|
0.00106
|
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu)
|
rs146149224
|
0.00106
|
NM_000337.6(SGCD):c.144G>C (p.Val48=)
|
rs372152495
|
0.00106
|
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)
|
rs148405563
|
0.00106
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000787.4(DBH):c.339+2T>C
|
rs74853476
|
0.00106
|
NM_001029883.3(PCARE):c.99G>A (p.Gln33=)
|
rs146455733
|
0.00106
|
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)
|
rs201707021
|
0.00106
|
NM_001193315.2(VIPAS39):c.136G>A (p.Val46Met)
|
rs148360332
|
0.00106
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)
|
rs186699871
|
0.00106
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=)
|
rs142219317
|
0.00106
|
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=)
|
rs188104446
|
0.00106
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_001458.5(FLNC):c.6998-5C>T
|
rs139030003
|
0.00106
|
NM_001999.4(FBN2):c.4100-9G>T
|
rs377002313
|
0.00106
|
NM_002381.5(MATN3):c.1171C>T (p.Arg391Cys)
|
rs146599945
|
0.00106
|
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=)
|
rs113282510
|
0.00106
|
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)
|
rs149218670
|
0.00106
|
NM_005333.5(HCCS):c.216G>C (p.Ala72=)
|
rs144152239
|
0.00106
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00106
|
NM_005609.4(PYGM):c.999+20C>T
|
rs201711087
|
0.00106
|
NM_005802.5(TOPORS):c.2525C>A (p.Thr842Asn)
|
rs139859703
|
0.00106
|
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu)
|
rs143818932
|
0.00106
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)
|
rs201889290
|
0.00106
|
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=)
|
rs142025489
|
0.00106
|
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=)
|
rs150969538
|
0.00106
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
NM_139125.4(MASP1):c.501C>G (p.Ser167=)
|
rs16861801
|
0.00106
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile)
|
rs4870093
|
0.00106
|
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His)
|
rs34963077
|
0.00106
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00106
|
NM_201253.3(CRB1):c.484G>A (p.Val162Met)
|
rs137853138
|
0.00106
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=)
|
rs371914255
|
0.00105
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)
|
rs147358733
|
0.00105
|
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)
|
rs145956175
|
0.00105
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met)
|
rs201167216
|
0.00105
|
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)
|
rs72646852
|
0.00105
|
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu)
|
rs200875379
|
0.00105
|
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn)
|
rs146170855
|
0.00105
|
NM_001453.3(FOXC1):c.921C>T (p.Gly307=)
|
rs369300819
|
0.00105
|
NM_001844.5(COL2A1):c.709-8G>T
|
rs200757693
|
0.00105
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)
|
rs147918962
|
0.00105
|
NM_003919.3(SGCE):c.606A>G (p.Thr202=)
|
rs148979783
|
0.00105
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00105
|
NM_005413.4(SIX3):c.219C>T (p.Pro73=)
|
rs186163123
|
0.00105
|
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)
|
rs189255177
|
0.00105
|
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys)
|
rs148911180
|
0.00105
|
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala)
|
rs186621177
|
0.00105
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)
|
rs200482255
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
NM_000321.3(RB1):c.1961-12T>C
|
rs201697122
|
0.00104
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)
|
rs143939609
|
0.00104
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00104
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=)
|
rs34161326
|
0.00104
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
NM_006445.4(PRPF8):c.306C>T (p.Leu102=)
|
rs113874709
|
0.00104
|
NM_017882.3(CLN6):c.270C>T (p.Asn90=)
|
rs145247814
|
0.00104
|
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=)
|
rs150955045
|
0.00104
|
NM_025193.4(HSD3B7):c.234C>T (p.Ala78=)
|
rs143699328
|
0.00104
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_130468.4(CHST14):c.807T>C (p.Asp269=)
|
rs139229738
|
0.00104
|
NM_138638.5(CFL2):c.21G>A (p.Val7=)
|
rs149700171
|
0.00104
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
NM_201384.3(PLEC):c.10203C>T (p.Pro3401=)
|
rs201096903
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_000392.5(ABCC2):c.3614+6G>C
|
rs17222716
|
0.00103
|
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)
|
rs143532979
|
0.00103
|
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser)
|
rs1800496
|
0.00103
|
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala)
|
rs55849640
|
0.00103
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_001112704.2(VAX1):c.642G>A (p.Leu214=)
|
rs554140675
|
0.00103
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00103
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00103
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=)
|
rs187182557
|
0.00103
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00103
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
0.00103
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe)
|
rs188638970
|
0.00103
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00103
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)
|
rs546554430
|
0.00103
|
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=)
|
rs144609433
|
0.00103
|
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
|
rs138329459
|
0.00103
|
NM_004839.4(HOMER2):c.643C>T (p.Arg215Cys)
|
rs199835958
|
0.00103
|
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)
|
rs145415033
|
0.00103
|
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)
|
rs148848282
|
0.00103
|
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu)
|
rs76591348
|
0.00103
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=)
|
rs115235667
|
0.00103
|
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=)
|
rs151142538
|
0.00103
|
NM_022041.4(GAN):c.1162C>T (p.Leu388=)
|
rs73589395
|
0.00103
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_052859.4(RFT1):c.826+7T>C
|
rs192264403
|
0.00103
|
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)
|
rs146555195
|
0.00103
|
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)
|
rs145565705
|
0.00103
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala)
|
rs192128801
|
0.00103
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00103
|
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=)
|
rs141472847
|
0.00103
|
NM_205850.3(SLC24A5):c.1442T>C (p.Leu481Ser)
|
rs146726548
|
0.00103
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
NM_001083961.2(WDR62):c.3231C>T (p.Pro1077=)
|
rs187029707
|
0.00102
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly)
|
rs371597026
|
0.00102
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=)
|
rs376917681
|
0.00102
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=)
|
rs200065104
|
0.00102
|
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly)
|
rs150637771
|
0.00102
|
NM_001849.4(COL6A2):c.115+6del
|
rs578127995
|
0.00102
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)
|
rs78484531
|
0.00102
|
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649
|
0.00102
|
NM_004608.4(TBX6):c.408C>T (p.Arg136=)
|
rs149724027
|
0.00102
|
NM_006486.3(FBLN1):c.1925G>T (p.Arg642Leu)
|
rs143377110
|
0.00102
|
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)
|
rs115541691
|
0.00102
|
NM_013382.7(POMT2):c.1593G>A (p.Leu531=)
|
rs147934334
|
0.00102
|
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp)
|
rs201135654
|
0.00102
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00102
|
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)
|
rs112206586
|
0.00102
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser)
|
rs41297065
|
0.00102
|
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)
|
rs146515622
|
0.00102
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln)
|
rs147967199
|
0.00102
|
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)
|
rs138039375
|
0.00102
|
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)
|
rs148008634
|
0.00102
|
NM_201599.3(ZMYM3):c.195C>G (p.Gly65=)
|
rs139405380
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=)
|
rs188655353
|
0.00101
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=)
|
rs17883356
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_000444.6(PHEX):c.903C>T (p.Asn301=)
|
rs142755818
|
0.00101
|
NM_000452.3(SLC10A2):c.108G>A (p.Thr36=)
|
rs141524545
|
0.00101
|
NM_000489.6(ATRX):c.846C>T (p.Ser282=)
|
rs148015780
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=)
|
rs150266932
|
0.00101
|
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)
|
rs192989929
|
0.00101
|
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)
|
rs201005813
|
0.00101
|
NM_001353108.3(CEP63):c.905C>G (p.Thr302Ser)
|
rs142766824
|
0.00101
|
NM_001364905.1(LRBA):c.1713C>T (p.His571=)
|
rs145812385
|
0.00101
|
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)
|
rs201967064
|
0.00101
|
NM_001379286.1(ZNF423):c.807C>T (p.Asp269=)
|
rs145503941
|
0.00101
|
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile)
|
rs147973806
|
0.00101
|
NM_001849.4(COL6A2):c.492C>T (p.His164=)
|
rs140929054
|
0.00101
|
NM_003630.3(PEX3):c.578+8A>G
|
rs200807211
|
0.00101
|
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)
|
rs192375476
|
0.00101
|
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly)
|
rs141565214
|
0.00101
|
NM_006279.5(ST3GAL3):c.118+10G>C
|
rs147330005
|
0.00101
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_014467.3(SRPX2):c.481C>A (p.Arg161=)
|
rs150552508
|
0.00101
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
NM_025219.3(DNAJC5):c.107+10C>T
|
rs181906972
|
0.00101
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=)
|
rs149003627
|
0.00101
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)
|
rs144435836
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_000169.3(GLA):c.978G>A (p.Lys326=)
|
rs151195362
|
0.00100
|
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)
|
rs141721173
|
0.00100
|
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)
|
rs150682764
|
0.00100
|
NM_001378120.1(MBD5):c.3754-9T>C
|
rs370173652
|
0.00100
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
NM_001429.4(EP300):c.6969C>G (p.Pro2323=)
|
rs111489369
|
0.00100
|
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=)
|
rs139554243
|
0.00100
|
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)
|
rs148688181
|
0.00100
|
NM_014989.7(RIMS1):c.2699-8T>C
|
rs149883454
|
0.00100
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
NM_022369.4(STRA6):c.357C>T (p.Pro119=)
|
rs139775570
|
0.00100
|
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)
|
rs34754243
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln)
|
rs144566713
|
0.00100
|
NM_000260.4(MYO7A):c.*8C>T
|
rs370206645
|
0.00099
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00099
|
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=)
|
rs140790266
|
0.00099
|
NM_001077525.3(MTMR14):c.567G>A (p.Thr189=)
|
rs9880613
|
0.00099
|
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)
|
rs148700620
|
0.00099
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=)
|
rs145401225
|
0.00099
|
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=)
|
rs111674454
|
0.00099
|
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met)
|
rs142775128
|
0.00099
|
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg)
|
rs185613200
|
0.00099
|
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)
|
rs111341650
|
0.00099
|
NM_002335.4(LRP5):c.2529C>T (p.Asp843=)
|
rs143204891
|
0.00099
|
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His)
|
rs141243126
|
0.00099
|
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
|
rs139664153
|
0.00099
|
NM_005216.5(DDOST):c.711C>T (p.Arg237=)
|
rs34189097
|
0.00099
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00099
|
NM_025132.4(WDR19):c.2715G>A (p.Lys905=)
|
rs200339331
|
0.00099
|
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)
|
rs114237522
|
0.00099
|
NM_139125.4(MASP1):c.1125C>T (p.His375=)
|
rs34207306
|
0.00099
|
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=)
|
rs112144165
|
0.00099
|
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln)
|
rs201644674
|
0.00099
|
NM_173495.3(PTCHD1):c.1311T>C (p.His437=)
|
rs150186077
|
0.00099
|
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly)
|
rs148600818
|
0.00099
|
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
|
rs138514054
|
0.00099
|
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val)
|
rs147947903
|
0.00099
|
NM_201599.3(ZMYM3):c.4065C>T (p.Arg1355=)
|
rs142437272
|
0.00099
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_000306.4(POU1F1):c.252C>T (p.His84=)
|
rs4988460
|
0.00098
|
NM_000388.4(CASR):c.6A>C (p.Ala2=)
|
rs112042188
|
0.00098
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)
|
rs144217005
|
0.00098
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln)
|
rs34194489
|
0.00098
|
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)
|
rs142404822
|
0.00098
|
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)
|
rs184324310
|
0.00098
|
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)
|
rs72646842
|
0.00098
|
NM_001384910.1(GUCA1A):c.142C>T (p.Leu48=)
|
rs35969994
|
0.00098
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_001966.4(EHHADH):c.1864C>T (p.Arg622Cys)
|
rs199916968
|
0.00098
|
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)
|
rs61742871
|
0.00098
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)
|
rs146440397
|
0.00098
|
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)
|
rs11568360
|
0.00098
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)
|
rs56099091
|
0.00098
|
NM_004998.4(MYO1E):c.3146C>A (p.Pro1049His)
|
rs147579391
|
0.00098
|
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)
|
rs362800
|
0.00098
|
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
|
rs79161241
|
0.00098
|
NM_014780.5(CUL7):c.2115C>T (p.His705=)
|
rs143128153
|
0.00098
|
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr)
|
rs142653982
|
0.00098
|
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=)
|
rs370580872
|
0.00098
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=)
|
rs199921300
|
0.00098
|
NM_173660.5(DOK7):c.331+9C>T
|
rs370879328
|
0.00098
|
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln)
|
rs145019640
|
0.00098
|
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_000209.4(PDX1):c.543C>T (p.Val181=)
|
rs75498935
|
0.00097
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
NM_001128228.3(TPRN):c.655C>A (p.Arg219Ser)
|
rs559890679
|
0.00097
|
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val)
|
rs148727077
|
0.00097
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)
|
rs150544093
|
0.00097
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00097
|
NM_001318510.2(ACSL4):c.806+3A>G
|
rs183171123
|
0.00097
|
NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile)
|
rs113315676
|
0.00097
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
NM_004565.3(PEX14):c.267C>G (p.Val89=)
|
rs146359055
|
0.00097
|
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp)
|
rs147653673
|
0.00097
|
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=)
|
rs145109914
|
0.00097
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
NM_015295.3(SMCHD1):c.5878+8T>G
|
rs144115061
|
0.00097
|
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala)
|
rs143724414
|
0.00097
|
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)
|
rs149806390
|
0.00097
|
NM_080916.3(DGUOK):c.142+9C>T
|
rs377000908
|
0.00097
|
NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg)
|
rs142844880
|
0.00097
|
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)
|
rs148689951
|
0.00097
|
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)
|
rs199843296
|
0.00097
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
NM_000038.6(APC):c.2262T>G (p.Val754=)
|
rs148987776
|
0.00096
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_000372.5(TYR):c.665T>C (p.Ile222Thr)
|
rs34878847
|
0.00096
|
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser)
|
rs147870525
|
0.00096
|
NM_000548.5(TSC2):c.262C>T (p.Leu88=)
|
rs45485999
|
0.00096
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=)
|
rs138680809
|
0.00096
|
NM_001083961.2(WDR62):c.2211-4G>A
|
rs202109439
|
0.00096
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)
|
rs111250264
|
0.00096
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)
|
rs73973139
|
0.00096
|
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)
|
rs147207100
|
0.00096
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)
|
rs199653503
|
0.00096
|
NM_001457.4(FLNB):c.808A>G (p.Met270Val)
|
rs145036794
|
0.00096
|
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)
|
rs139401633
|
0.00096
|
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=)
|
rs147247206
|
0.00096
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr)
|
rs150161574
|
0.00096
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)
|
rs116066149
|
0.00096
|
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu)
|
rs202092407
|
0.00096
|
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)
|
rs141456140
|
0.00096
|
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00096
|
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)
|
rs113005049
|
0.00096
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)
|
rs150395094
|
0.00096
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=)
|
rs150573530
|
0.00096
|
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)
|
rs146492238
|
0.00096
|
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr)
|
rs17882190
|
0.00095
|
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)
|
rs61749678
|
0.00095
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)
|
rs139059149
|
0.00095
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu)
|
rs144464757
|
0.00095
|
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg)
|
rs78219242
|
0.00095
|
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)
|
rs116933453
|
0.00095
|
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu)
|
rs115548605
|
0.00095
|
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln)
|
rs200290535
|
0.00095
|
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly)
|
rs201559220
|
0.00095
|
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile)
|
rs140191063
|
0.00095
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)
|
rs41299625
|
0.00095
|
NM_018965.4(TREM2):c.399G>T (p.Leu133=)
|
rs144250872
|
0.00095
|
NM_020754.4(ARHGAP31):c.2364A>T (p.Pro788=)
|
rs61746581
|
0.00095
|
NM_020779.4(WDR35):c.770T>C (p.Val257Ala)
|
rs142955097
|
0.00095
|
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)
|
rs142126065
|
0.00095
|
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)
|
rs140100861
|
0.00095
|
NM_207361.6(FREM2):c.2367G>A (p.Pro789=)
|
rs140101984
|
0.00095
|
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=)
|
rs147498129
|
0.00094
|
NM_001008388.5(CISD2):c.12G>A (p.Glu4=)
|
rs145312923
|
0.00094
|
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)
|
rs147950418
|
0.00094
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)
|
rs55892928
|
0.00094
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr)
|
rs886042833
|
0.00094
|
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)
|
rs34081806
|
0.00094
|
NM_012469.4(PRPF6):c.1797G>A (p.Arg599=)
|
rs145483312
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_016616.5(NME8):c.610A>G (p.Ile204Val)
|
rs146777129
|
0.00094
|
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn)
|
rs139709507
|
0.00094
|
NM_020812.4(DOCK6):c.2594G>A (p.Arg865His)
|
rs199922090
|
0.00094
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
NM_054012.4(ASS1):c.1134C>T (p.Asn378=)
|
rs140715869
|
0.00094
|
NM_133261.3(GIPC3):c.906C>T (p.Ala302=)
|
rs140960269
|
0.00094
|
NM_153603.4(COG7):c.850A>T (p.Ile284Phe)
|
rs115605801
|
0.00094
|
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)
|
rs141028210
|
0.00094
|
NM_201525.4(ADGRG1):c.243C>T (p.Phe81=)
|
rs58068378
|
0.00094
|
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
|
rs138098371
|
0.00093
|
NM_000193.4(SHH):c.876G>A (p.Gly292=)
|
rs112055654
|
0.00093
|
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)
|
rs61732159
|
0.00093
|
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)
|
rs148709148
|
0.00093
|
NM_000426.4(LAMA2):c.6649G>A (p.Val2217Ile)
|
rs147857398
|
0.00093
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
NM_000631.5(NCF4):c.478G>A (p.Val160Met)
|
rs150103256
|
0.00093
|
NM_000719.7(CACNA1C):c.3049-10C>T
|
rs186741807
|
0.00093
|
NM_001012720.2(RGR):c.318T>C (p.Ser106=)
|
rs143761967
|
0.00093
|
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)
|
rs201337011
|
0.00093
|
NM_001165967.2(HES7):c.420G>A (p.Pro140=)
|
rs200833034
|
0.00093
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met)
|
rs145527033
|
0.00093
|
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)
|
rs201069672
|
0.00093
|
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=)
|
rs371612136
|
0.00093
|
NM_001292063.2(OTOG):c.2868-3C>T
|
rs565665118
|
0.00093
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_001360016.2(G6PD):c.1458-13C>G
|
rs371772243
|
0.00093
|
NM_001369268.1(ACAN):c.7092G>A (p.Lys2364=)
|
rs368979713
|
0.00093
|
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu)
|
rs142920070
|
0.00093
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00093
|
NM_012193.4(FZD4):c.1194T>C (p.Tyr398=)
|
rs147766472
|
0.00093
|
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=)
|
rs142359170
|
0.00093
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00093
|
NM_020066.5(FMN2):c.893G>A (p.Gly298Asp)
|
rs556876873
|
0.00093
|
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)
|
rs151047156
|
0.00093
|
NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His)
|
rs115035890
|
0.00093
|
NM_020822.3(KCNT1):c.985C>T (p.Leu329=)
|
rs147165522
|
0.00093
|
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=)
|
rs150773110
|
0.00093
|
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala)
|
rs114404835
|
0.00093
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)
|
rs745594874
|
0.00093
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00093
|
NM_194248.3(OTOF):c.1530C>T (p.Ile510=)
|
rs150452778
|
0.00093
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
NM_198576.4(AGRN):c.2013C>T (p.Ser671=)
|
rs141603403
|
0.00093
|
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)
|
rs144242254
|
0.00093
|
NM_201548.5(CERKL):c.735G>C (p.Leu245=)
|
rs140898616
|
0.00093
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)
|
rs113452150
|
0.00092
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
NM_000208.4(INSR):c.190T>C (p.Leu64=)
|
rs144836032
|
0.00092
|
NM_000214.3(JAG1):c.1578C>T (p.Ile526=)
|
rs1801139
|
0.00092
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys)
|
rs59148238
|
0.00092
|
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)
|
rs147318592
|
0.00092
|
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=)
|
rs200894045
|
0.00092
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_003673.4(TCAP):c.353C>T (p.Ala118Val)
|
rs143233087
|
0.00092
|
NM_003742.4(ABCB11):c.408C>T (p.Ser136=)
|
rs183214630
|
0.00092
|
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)
|
rs150610444
|
0.00092
|
NM_004994.3(MMP9):c.1896C>T (p.Leu632=)
|
rs202160464
|
0.00092
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
NM_006929.5(SKIC2):c.3470C>T (p.Thr1157Met)
|
rs201764098
|
0.00092
|
NM_012469.4(PRPF6):c.891C>T (p.Leu297=)
|
rs41278234
|
0.00092
|
NM_014251.3(SLC25A13):c.1311+3A>G
|
rs180844972
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
NM_022124.6(CDH23):c.4488+7C>T
|
rs374215303
|
0.00092
|
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser)
|
rs149894086
|
0.00092
|
NM_022437.3(ABCG8):c.1656G>A (p.Leu552=)
|
rs145341486
|
0.00092
|
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln)
|
rs144871446
|
0.00092
|
NM_032119.4(ADGRV1):c.8172C>T (p.Phe2724=)
|
rs371019516
|
0.00092
|
NM_057176.3(BSND):c.527G>A (p.Arg176His)
|
rs143711308
|
0.00092
|
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=)
|
rs146552975
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_000392.5(ABCC2):c.258A>G (p.Val86=)
|
rs142443276
|
0.00091
|
NM_000426.4(LAMA2):c.1782+10C>T
|
rs200030296
|
0.00091
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
NM_000553.6(WRN):c.107G>A (p.Arg36Gln)
|
rs34084741
|
0.00091
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys)
|
rs3735354
|
0.00091
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)
|
rs147293964
|
0.00091
|
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=)
|
rs186563991
|
0.00091
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser)
|
rs147297895
|
0.00091
|
NM_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00091
|
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=)
|
rs61735833
|
0.00091
|
NM_001966.4(EHHADH):c.450C>T (p.Asp150=)
|
rs116162834
|
0.00091
|
NM_003036.4(SKI):c.1851G>A (p.Glu617=)
|
rs146789646
|
0.00091
|
NM_004393.6(DAG1):c.2082C>T (p.Asn694=)
|
rs146453412
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
NM_005045.4(RELN):c.577+7G>T
|
rs188372756
|
0.00091
|
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
|
rs3027884
|
0.00091
|
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=)
|
rs184725551
|
0.00091
|
NM_019066.5(MAGEL2):c.639A>C (p.Pro213=)
|
rs886042708
|
0.00091
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974
|
0.00091
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_170707.4(LMNA):c.640-52C>T
|
rs41314033
|
0.00091
|
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)
|
rs149227847
|
0.00091
|
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr)
|
rs140897155
|
0.00091
|
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro)
|
rs111902869
|
0.00091
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)
|
rs111033366
|
0.00091
|
NM_201384.3(PLEC):c.10656G>A (p.Val3552=)
|
rs368312695
|
0.00091
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00090
|
NM_000082.4(ERCC8):c.66G>A (p.Glu22=)
|
rs149130938
|
0.00090
|
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=)
|
rs114832108
|
0.00090
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_000489.6(ATRX):c.5787-20G>T
|
rs185359850
|
0.00090
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)
|
rs55938627
|
0.00090
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)
|
rs35140429
|
0.00090
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
NM_001793.6(CDH3):c.345T>C (p.Ser115=)
|
rs138829996
|
0.00090
|
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)
|
rs140368756
|
0.00090
|
NM_003322.6(TULP1):c.366G>T (p.Glu122Asp)
|
rs113772629
|
0.00090
|
NM_003630.3(PEX3):c.165A>G (p.Gln55=)
|
rs41285015
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn)
|
rs139339184
|
0.00090
|
NM_022095.4(ZNF335):c.2280G>A (p.Gln760=)
|
rs148186790
|
0.00090
|
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)
|
rs146588335
|
0.00090
|
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)
|
rs200631556
|
0.00090
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)
|
rs61749454
|
0.00089
|
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)
|
rs3087425
|
0.00089
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys)
|
rs139997243
|
0.00089
|
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala)
|
rs140588417
|
0.00089
|
NM_001267550.2(TTN):c.15906C>T (p.Val5302=)
|
rs375179152
|
0.00089
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)
|
rs115924432
|
0.00089
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
NM_001844.5(COL2A1):c.2095-4G>A
|
rs111570218
|
0.00089
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=)
|
rs55845713
|
0.00089
|
NM_005068.3(SIM1):c.1082C>T (p.Thr361Ile)
|
rs145479047
|
0.00089
|
NM_006907.4(PYCR1):c.465C>T (p.Ser155=)
|
rs149683289
|
0.00089
|
NM_014319.5(LEMD3):c.1746C>T (p.Ile582=)
|
rs140496862
|
0.00089
|
NM_014874.4(MFN2):c.1641C>T (p.Leu547=)
|
rs140924661
|
0.00089
|
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys)
|
rs116833707
|
0.00089
|
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=)
|
rs61758368
|
0.00089
|
NM_019098.5(CNGB3):c.2007A>G (p.Lys669=)
|
rs147991883
|
0.00089
|
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)
|
rs142890313
|
0.00089
|
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys)
|
rs3746366
|
0.00089
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)
|
rs36215251
|
0.00089
|
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly)
|
rs187648086
|
0.00089
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=)
|
rs141950964
|
0.00089
|
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)
|
rs199989979
|
0.00088
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00088
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)
|
rs140553130
|
0.00088
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=)
|
rs375543045
|
0.00088
|
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys)
|
rs200465274
|
0.00088
|
NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=)
|
rs141521080
|
0.00088
|
NM_001267550.2(TTN):c.18531G>C (p.Val6177=)
|
rs370684491
|
0.00088
|
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)
|
rs139790668
|
0.00088
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile)
|
rs150555123
|
0.00088
|
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg)
|
rs563818052
|
0.00088
|
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)
|
rs147044066
|
0.00088
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638
|
0.00088
|
NM_001379180.1(ESRRB):c.*1546C>T
|
rs201448899
|
0.00088
|
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu)
|
rs373605761
|
0.00088
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser)
|
rs150996735
|
0.00088
|
NM_002880.4(RAF1):c.1830A>G (p.Gln610=)
|
rs141791080
|
0.00088
|
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=)
|
rs34966542
|
0.00088
|
NM_004530.6(MMP2):c.1233G>A (p.Leu411=)
|
rs140172728
|
0.00088
|
NM_005413.4(SIX3):c.369G>A (p.Glu123=)
|
rs200331042
|
0.00088
|
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=)
|
rs150650712
|
0.00088
|
NM_006019.4(TCIRG1):c.197-5C>T
|
rs183885218
|
0.00088
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=)
|
rs192179523
|
0.00088
|
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)
|
rs369983077
|
0.00088
|
NM_020822.3(KCNT1):c.3157-8C>T
|
rs371874401
|
0.00088
|
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)
|
rs144257298
|
0.00088
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=)
|
rs148021416
|
0.00088
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=)
|
rs145960781
|
0.00088
|
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)
|
rs145697858
|
0.00087
|
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=)
|
rs115875661
|
0.00087
|
NM_000151.4(G6PC1):c.562+10G>A
|
rs199505156
|
0.00087
|
NM_000208.4(INSR):c.959C>T (p.Thr320Met)
|
rs138528064
|
0.00087
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser)
|
rs141129877
|
0.00087
|
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu)
|
rs113886269
|
0.00087
|
NM_001128225.3(SLC39A13):c.646-7T>C
|
rs140597965
|
0.00087
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=)
|
rs373182578
|
0.00087
|
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His)
|
rs189248390
|
0.00087
|
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile)
|
rs189100009
|
0.00087
|
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys)
|
rs61745612
|
0.00087
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
NM_001614.5(ACTG1):c.39C>T (p.Gly13=)
|
rs146865914
|
0.00087
|
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)
|
rs150877061
|
0.00087
|
NM_002206.3(ITGA7):c.791-7C>T
|
rs144699549
|
0.00087
|
NM_003896.4(ST3GAL5):c.-15C>T
|
rs527286367
|
0.00087
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00087
|
NM_014425.5(INVS):c.1945G>A (p.Val649Met)
|
rs115042730
|
0.00087
|
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val)
|
rs112005830
|
0.00087
|
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=)
|
rs146948888
|
0.00087
|
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=)
|
rs564053026
|
0.00087
|
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu)
|
rs58625281
|
0.00087
|
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=)
|
rs143198263
|
0.00087
|
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)
|
rs140326154
|
0.00087
|
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu)
|
rs77679870
|
0.00087
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_000071.3(CBS):c.52C>T (p.Arg18Cys)
|
rs201827340
|
0.00086
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_000426.4(LAMA2):c.6697G>A (p.Val2233Ile)
|
rs150945378
|
0.00086
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_000548.5(TSC2):c.2784C>T (p.Pro928=)
|
rs45517267
|
0.00086
|
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=)
|
rs45598332
|
0.00086
|
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn)
|
rs146800850
|
0.00086
|
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser)
|
rs149685267
|
0.00086
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)
|
rs201836227
|
0.00086
|
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=)
|
rs181299250
|
0.00086
|
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)
|
rs368243641
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00086
|
NM_001844.5(COL2A1):c.507C>T (p.Pro169=)
|
rs143851987
|
0.00086
|
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=)
|
rs373274913
|
0.00086
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
|
rs148104494
|
0.00086
|
NM_003742.4(ABCB11):c.2985G>A (p.Ala995=)
|
rs113923887
|
0.00086
|
NM_003742.4(ABCB11):c.3435A>G (p.Lys1145=)
|
rs11568366
|
0.00086
|
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile)
|
rs149056068
|
0.00086
|
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=)
|
rs56120877
|
0.00086
|
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe)
|
rs140729669
|
0.00086
|
NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile)
|
rs145032037
|
0.00086
|
NM_012210.4(TRIM32):c.6T>G (p.Ala2=)
|
rs141352486
|
0.00086
|
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)
|
rs73464271
|
0.00086
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
NM_021101.5(CLDN1):c.195A>G (p.Lys65=)
|
rs145197251
|
0.00086
|
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe)
|
rs115722008
|
0.00086
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu)
|
rs199861426
|
0.00086
|
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys)
|
rs183851734
|
0.00086
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875
|
0.00086
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00086
|
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe)
|
rs138153104
|
0.00086
|
NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile)
|
rs148582250
|
0.00086
|
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly)
|
rs149617373
|
0.00086
|
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)
|
rs149005052
|
0.00086
|
NM_201384.3(PLEC):c.2775C>T (p.Ala925=)
|
rs201202488
|
0.00086
|
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu)
|
rs146685404
|
0.00086
|
NM_000193.4(SHH):c.1181G>A (p.Arg394His)
|
rs551809680
|
0.00085
|
NM_000208.4(INSR):c.2970G>A (p.Pro990=)
|
rs41304772
|
0.00085
|
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=)
|
rs75648145
|
0.00085
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)
|
rs143782439
|
0.00085
|
NM_001048166.1(STIL):c.2906A>G (p.His969Arg)
|
rs148193936
|
0.00085
|
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)
|
rs368772806
|
0.00085
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00085
|
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=)
|
rs150153886
|
0.00085
|
NM_003482.4(KMT2D):c.7478G>A (p.Gly2493Glu)
|
rs833819
|
0.00085
|
NM_003742.4(ABCB11):c.174C>T (p.Asp58=)
|
rs11568362
|
0.00085
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_017534.6(MYH2):c.2106C>T (p.Asn702=)
|
rs145039915
|
0.00085
|
NM_020066.5(FMN2):c.2572C>A (p.Pro858Thr)
|
rs140315493
|
0.00085
|
NM_020451.3(SELENON):c.1596C>T (p.Gly532=)
|
rs149623434
|
0.00085
|
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)
|
rs116321057
|
0.00085
|
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)
|
rs150549897
|
0.00085
|
NM_058246.4(DNAJB6):c.429G>C (p.Ala143=)
|
rs150709673
|
0.00085
|
NM_152415.3(VPS37A):c.-19G>A
|
rs59276128
|
0.00085
|
NM_153240.5(NPHP3):c.105G>A (p.Lys35=)
|
rs377060857
|
0.00085
|
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=)
|
rs144880376
|
0.00085
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)
|
rs61760166
|
0.00084
|
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)
|
rs142381554
|
0.00084
|
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)
|
rs142244640
|
0.00084
|
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)
|
rs45492397
|
0.00084
|
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)
|
rs79137415
|
0.00084
|
NM_001031679.3(MSRB3):c.76+7G>T
|
rs199896714
|
0.00084
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
NM_001083961.2(WDR62):c.2381C>G (p.Pro794Arg)
|
rs149431376
|
0.00084
|
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)
|
rs45602336
|
0.00084
|
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr)
|
rs121918818
|
0.00084
|
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)
|
rs140365206
|
0.00084
|
NM_001193315.2(VIPAS39):c.972C>T (p.Arg324=)
|
rs147303718
|
0.00084
|
NM_001200.4(BMP2):c.561C>T (p.Pro187=)
|
rs149465465
|
0.00084
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_001367721.1(CASK):c.1077G>A (p.Ala359=)
|
rs145641295
|
0.00084
|
NM_001379286.1(ZNF423):c.819C>T (p.Cys273=)
|
rs201499268
|
0.00084
|
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr)
|
rs79377093
|
0.00084
|
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)
|
rs201418838
|
0.00084
|
NM_005633.4(SOS1):c.2238T>C (p.Asn746=)
|
rs75877625
|
0.00084
|
NM_014324.6(AMACR):c.554T>C (p.Val185Ala)
|
rs145786819
|
0.00084
|
NM_014363.6(SACS):c.1917A>G (p.Ala639=)
|
rs138457742
|
0.00084
|
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)
|
rs146673563
|
0.00084
|
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=)
|
rs34803755
|
0.00084
|
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)
|
rs372615343
|
0.00084
|
NM_022726.4(ELOVL4):c.931G>A (p.Ala311Thr)
|
rs189898207
|
0.00084
|
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)
|
rs17752991
|
0.00084
|
NM_198578.4(LRRK2):c.347+2T>C
|
rs141221000
|
0.00084
|
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val)
|
rs542642242
|
0.00084
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu)
|
rs139804851
|
0.00084
|
NM_000071.3(CBS):c.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)
|
rs56240927
|
0.00083
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)
|
rs113534264
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000548.5(TSC2):c.2979G>A (p.Thr993=)
|
rs45517277
|
0.00083
|
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207
|
0.00083
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_001077525.3(MTMR14):c.480C>T (p.Asn160=)
|
rs375826804
|
0.00083
|
NM_001145809.2(MYH14):c.615G>A (p.Thr205=)
|
rs199921330
|
0.00083
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu)
|
rs114108462
|
0.00083
|
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=)
|
rs200182626
|
0.00083
|
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile)
|
rs182125538
|
0.00083
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00083
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
NM_001966.4(EHHADH):c.1804C>T (p.Arg602Trp)
|
rs148208284
|
0.00083
|
NM_001966.4(EHHADH):c.2094A>G (p.Leu698=)
|
rs370130327
|
0.00083
|
NM_002181.4(IHH):c.858G>A (p.Pro286=)
|
rs146055831
|
0.00083
|
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)
|
rs149028067
|
0.00083
|
NM_002691.4(POLD1):c.612C>T (p.His204=)
|
rs147881471
|
0.00083
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_004086.3(COCH):c.1348A>G (p.Ile450Val)
|
rs139503327
|
0.00083
|
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser)
|
rs142285791
|
0.00083
|
NM_004586.3(RPS6KA3):c.244-5T>C
|
rs192189478
|
0.00083
|
NM_005477.3(HCN4):c.1653C>A (p.Ile551=)
|
rs141966309
|
0.00083
|
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile)
|
rs2229490
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_006086.4(TUBB3):c.921C>T (p.His307=)
|
rs147283850
|
0.00083
|
NM_006486.3(FBLN1):c.1662C>T (p.Phe554=)
|
rs138534271
|
0.00083
|
NM_014249.4(NR2E3):c.900G>A (p.Thr300=)
|
rs184906734
|
0.00083
|
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro)
|
rs146970674
|
0.00083
|
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp)
|
rs34875116
|
0.00083
|
NM_021939.4(FKBP10):c.174A>G (p.Glu58=)
|
rs150052125
|
0.00083
|
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)
|
rs202110635
|
0.00083
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_175875.5(SIX5):c.549G>A (p.Val183=)
|
rs143904307
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_205850.3(SLC24A5):c.347C>G (p.Ala116Gly)
|
rs150379789
|
0.00083
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile)
|
rs142219494
|
0.00082
|
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=)
|
rs115883756
|
0.00082
|
NM_000326.5(RLBP1):c.303C>T (p.Arg101=)
|
rs144254383
|
0.00082
|
NM_000426.4(LAMA2):c.7440-9G>A
|
rs369558532
|
0.00082
|
NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu)
|
rs117447044
|
0.00082
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=)
|
rs61737042
|
0.00082
|
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val)
|
rs372323929
|
0.00082
|
NM_001037.5(SCN1B):c.351C>T (p.Gly117=)
|
rs3746255
|
0.00082
|
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)
|
rs72647541
|
0.00082
|
NM_001039141.3(TRIOBP):c.3309C>T (p.His1103=)
|
rs199594270
|
0.00082
|
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=)
|
rs147497014
|
0.00082
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00082
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_001384910.1(GUCA1A):c.152C>T (p.Ser51Leu)
|
rs137931613
|
0.00082
|
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=)
|
rs141275968
|
0.00082
|
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)
|
rs150907698
|
0.00082
|
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser)
|
rs141100113
|
0.00082
|
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser)
|
rs139592595
|
0.00082
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile)
|
rs113536228
|
0.00082
|
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)
|
rs149296737
|
0.00082
|
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)
|
rs139078338
|
0.00082
|
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)
|
rs138407813
|
0.00082
|
NM_201384.3(PLEC):c.10566G>A (p.Thr3522=)
|
rs200741156
|
0.00082
|
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=)
|
rs141834289
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000095.3(COMP):c.1488C>A (p.Asp496Glu)
|
rs143714206
|
0.00081
|
NM_000126.4(ETFA):c.6C>T (p.Phe2=)
|
rs749929239
|
0.00081
|
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=)
|
rs148104605
|
0.00081
|
NM_000159.4(GCDH):c.471C>T (p.Ser157=)
|
rs146682905
|
0.00081
|
NM_000214.3(JAG1):c.439+10G>A
|
rs201371037
|
0.00081
|
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
|
rs35860166
|
0.00081
|
NM_000410.4(HFE):c.829G>A (p.Glu277Lys)
|
rs140080192
|
0.00081
|
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)
|
rs547740249
|
0.00081
|
NM_001032221.6(STXBP1):c.1702+10C>T
|
rs147607230
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)
|
rs61753012
|
0.00081
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
NM_001193315.2(VIPAS39):c.598-6C>G
|
rs141155709
|
0.00081
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00081
|
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)
|
rs202108224
|
0.00081
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met)
|
rs113688475
|
0.00081
|
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser)
|
rs184563685
|
0.00081
|
NM_001367721.1(CASK):c.2317+9T>C
|
rs5964007
|
0.00081
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)
|
rs144937332
|
0.00081
|
NM_001378477.3(NYX):c.567C>A (p.Ile189=)
|
rs746383908
|
0.00081
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)
|
rs150432347
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=)
|
rs144654126
|
0.00081
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)
|
rs139258361
|
0.00081
|
NM_004530.6(MMP2):c.496G>A (p.Glu166Lys)
|
rs147947052
|
0.00081
|
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val)
|
rs145538358
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_005676.5(RBM10):c.1104A>G (p.Pro368=)
|
rs149109733
|
0.00081
|
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly)
|
rs150246733
|
0.00081
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr)
|
rs151086692
|
0.00081
|
NM_012301.4(MAGI2):c.2454C>T (p.Arg818=)
|
rs148580718
|
0.00081
|
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala)
|
rs35959882
|
0.00081
|
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
|
rs145758265
|
0.00081
|
NM_032578.4(MYPN):c.1293C>A (p.Ile431=)
|
rs147184158
|
0.00081
|
NM_170699.3(GPBAR1):c.189C>T (p.Leu63=)
|
rs111925653
|
0.00081
|
NM_173630.4(RTTN):c.1221A>G (p.Glu407=)
|
rs112327299
|
0.00081
|
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=)
|
rs114858512
|
0.00081
|
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=)
|
rs138528119
|
0.00081
|
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)
|
rs149362446
|
0.00081
|
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr)
|
rs148810231
|
0.00081
|
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val)
|
rs201959200
|
0.00081
|
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=)
|
rs141673192
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr)
|
rs115650537
|
0.00080
|
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu)
|
rs112657170
|
0.00080
|
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp)
|
rs76378652
|
0.00080
|
NM_001110792.2(MECP2):c.*9G>A
|
rs144008995
|
0.00080
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)
|
rs114286628
|
0.00080
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00080
|
NM_001378615.1(CC2D2A):c.1017+7G>A
|
rs137919504
|
0.00080
|
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)
|
rs375131519
|
0.00080
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00080
|
NM_001848.3(COL6A1):c.996C>T (p.Gly332=)
|
rs11702055
|
0.00080
|
NM_003049.4(SLC10A1):c.702T>G (p.Phe234Leu)
|
rs139931299
|
0.00080
|
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg)
|
rs12068754
|
0.00080
|
NM_005045.4(RELN):c.4182A>G (p.Ser1394=)
|
rs147496823
|
0.00080
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
NM_012418.4(FSCN2):c.492C>T (p.Asp164=)
|
rs370382419
|
0.00080
|
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
|
rs139287714
|
0.00080
|
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)
|
rs371159780
|
0.00080
|
NM_153676.4(USH1C):c.2443C>T (p.Leu815=)
|
rs148477093
|
0.00080
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro)
|
rs147870520
|
0.00080
|
NM_201384.3(PLEC):c.1878T>A (p.Thr626=)
|
rs377039110
|
0.00080
|
NM_201384.3(PLEC):c.2478C>T (p.Asp826=)
|
rs202135215
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00079
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=)
|
rs185715311
|
0.00079
|
NM_001267550.2(TTN):c.1537-4G>A
|
rs56006378
|
0.00079
|
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=)
|
rs373842558
|
0.00079
|
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=)
|
rs372609980
|
0.00079
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)
|
rs190406444
|
0.00079
|
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)
|
rs142585703
|
0.00079
|
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)
|
rs141353229
|
0.00079
|
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=)
|
rs147591591
|
0.00079
|
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=)
|
rs147202936
|
0.00079
|
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)
|
rs202176764
|
0.00079
|
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)
|
rs150572999
|
0.00079
|
NM_004463.3(FGD1):c.482-10G>A
|
rs146783766
|
0.00079
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile)
|
rs146682651
|
0.00079
|
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)
|
rs200532919
|
0.00079
|
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val)
|
rs145092724
|
0.00079
|
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)
|
rs56174879
|
0.00079
|
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=)
|
rs377400638
|
0.00079
|
NM_025132.4(WDR19):c.2364-3del
|
rs757992911
|
0.00079
|
NM_153717.3(EVC):c.1770C>T (p.Asp590=)
|
rs141755737
|
0.00079
|
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln)
|
rs201417343
|
0.00079
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00079
|
NM_207361.6(FREM2):c.177T>C (p.Gly59=)
|
rs370018440
|
0.00079
|
NM_207361.6(FREM2):c.2823C>T (p.Pro941=)
|
rs150154438
|
0.00079
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
NM_000117.3(EMD):c.466G>A (p.Gly156Ser)
|
rs144594695
|
0.00078
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly)
|
rs150849316
|
0.00078
|
NM_000297.4(PKD2):c.784G>A (p.Val262Met)
|
rs138132026
|
0.00078
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
NM_000392.5(ABCC2):c.1967+1G>A
|
rs146405172
|
0.00078
|
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val)
|
rs149200446
|
0.00078
|
NM_001032221.6(STXBP1):c.6C>T (p.Ala2=)
|
rs144094037
|
0.00078
|
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu)
|
rs148749888
|
0.00078
|
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=)
|
rs117887683
|
0.00078
|
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)
|
rs150069819
|
0.00078
|
NM_001130438.3(SPTAN1):c.6960-8T>C
|
rs140241053
|
0.00078
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00078
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
NM_001267550.2(TTN):c.98683+7G>C
|
rs141150066
|
0.00078
|
NM_001277313.2(FMN1):c.3974A>G (p.Gln1325Arg)
|
rs147769257
|
0.00078
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu)
|
rs116237993
|
0.00078
|
NM_001848.3(COL6A1):c.381C>T (p.Thr127=)
|
rs75180385
|
0.00078
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_002857.4(PEX19):c.564G>A (p.Leu188=)
|
rs149058086
|
0.00078
|
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr)
|
rs138125827
|
0.00078
|
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)
|
rs140954748
|
0.00078
|
NM_005982.4(SIX1):c.330G>A (p.Arg110=)
|
rs73309461
|
0.00078
|
NM_006005.3(WFS1):c.1143G>A (p.Leu381=)
|
rs151153967
|
0.00078
|
NM_014795.4(ZEB2):c.798G>C (p.Gly266=)
|
rs34961586
|
0.00078
|
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)
|
rs35575973
|
0.00078
|
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)
|
rs143218310
|
0.00078
|
NM_016616.5(NME8):c.271-3T>C
|
rs191137504
|
0.00078
|
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)
|
rs184043065
|
0.00078
|
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_022437.3(ABCG8):c.1411+8T>A
|
rs201991639
|
0.00078
|
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)
|
rs200946170
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_170699.3(GPBAR1):c.701G>T (p.Gly234Val)
|
rs201017530
|
0.00078
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00077
|
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)
|
rs141862527
|
0.00077
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
NM_001077365.2(POMT1):c.986+9A>G
|
rs202095070
|
0.00077
|
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)
|
rs139460397
|
0.00077
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser)
|
rs145102275
|
0.00077
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_001164508.2(NEB):c.1258-7C>G
|
rs371265681
|
0.00077
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
NM_001277313.2(FMN1):c.2718G>A (p.Pro906=)
|
rs370019638
|
0.00077
|
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)
|
rs193204986
|
0.00077
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00077
|
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg)
|
rs149459564
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_004187.5(KDM5C):c.108C>T (p.Pro36=)
|
rs139309563
|
0.00077
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
NM_005876.5(SPEG):c.6694C>A (p.Pro2232Thr)
|
rs371302780
|
0.00077
|
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His)
|
rs79762798
|
0.00077
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00077
|
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu)
|
rs553561553
|
0.00077
|
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp)
|
rs112209873
|
0.00077
|
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373
|
0.00077
|
NM_022458.4(LMBR1):c.843G>A (p.Arg281=)
|
rs140806590
|
0.00077
|
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)
|
rs145343609
|
0.00077
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_201384.3(PLEC):c.8976C>T (p.Ile2992=)
|
rs375914011
|
0.00077
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg)
|
rs150246404
|
0.00076
|
NM_001130987.2(DYSF):c.2034G>A (p.Val678=)
|
rs138111360
|
0.00076
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
|
rs148551876
|
0.00076
|
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)
|
rs143368674
|
0.00076
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)
|
rs201285872
|
0.00076
|
NM_001353214.3(DYM):c.946+7G>A
|
rs150849326
|
0.00076
|
NM_001365536.1(SCN9A):c.688+9T>C
|
rs188814235
|
0.00076
|
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly)
|
rs201829296
|
0.00076
|
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=)
|
rs139243418
|
0.00076
|
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln)
|
rs141663473
|
0.00076
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_002739.5(PRKCG):c.1524C>A (p.Pro508=)
|
rs115736276
|
0.00076
|
NM_003193.5(TBCE):c.253A>G (p.Ile85Val)
|
rs143886167
|
0.00076
|
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)
|
rs112236653
|
0.00076
|
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met)
|
rs111402193
|
0.00076
|
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=)
|
rs115401779
|
0.00076
|
NM_004667.6(HERC2):c.2747-3C>A
|
rs200632307
|
0.00076
|
NM_005045.4(RELN):c.3913-9T>C
|
rs372473867
|
0.00076
|
NM_005199.5(CHRNG):c.1100T>C (p.Val367Ala)
|
rs74691009
|
0.00076
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)
|
rs146132083
|
0.00076
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)
|
rs142454880
|
0.00076
|
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg)
|
rs116314059
|
0.00076
|
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=)
|
rs9662691
|
0.00076
|
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr)
|
rs373294263
|
0.00076
|
NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=)
|
rs369632735
|
0.00076
|
NM_017780.4(CHD7):c.3202-5T>C
|
rs147994149
|
0.00076
|
NM_024915.4(GRHL2):c.804C>T (p.Thr268=)
|
rs55682875
|
0.00076
|
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)
|
rs139404261
|
0.00076
|
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=)
|
rs139448147
|
0.00076
|
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)
|
rs201236317
|
0.00076
|
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val)
|
rs200061415
|
0.00076
|
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu)
|
rs146913105
|
0.00076
|
NM_000023.4(SGCA):c.366G>A (p.Leu122=)
|
rs147739328
|
0.00075
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser)
|
rs45624939
|
0.00075
|
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys)
|
rs767333157
|
0.00075
|
NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=)
|
rs138502867
|
0.00075
|
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala)
|
rs200150148
|
0.00075
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00075
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)
|
rs72646867
|
0.00075
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=)
|
rs539304668
|
0.00075
|
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln)
|
rs150499790
|
0.00075
|
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val)
|
rs148641361
|
0.00075
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_003179.3(SYP):c.612G>A (p.Ser204=)
|
rs145093168
|
0.00075
|
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr)
|
rs202013880
|
0.00075
|
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)
|
rs113153193
|
0.00075
|
NM_005097.4(LGI1):c.600C>T (p.Cys200=)
|
rs148862146
|
0.00075
|
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
|
rs190023981
|
0.00075
|
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp)
|
rs142985827
|
0.00075
|
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)
|
rs148962110
|
0.00075
|
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)
|
rs754894988
|
0.00075
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
NM_052989.3(IFT122):c.1026C>T (p.Asp342=)
|
rs79187669
|
0.00075
|
NM_080916.3(DGUOK):c.630G>A (p.Glu210=)
|
rs115206553
|
0.00075
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met)
|
rs138803855
|
0.00075
|
NM_000193.4(SHH):c.1078C>T (p.Leu360=)
|
rs191903572
|
0.00074
|
NM_000283.4(PDE6B):c.1401+7_1401+8insA
|
rs537010934
|
0.00074
|
NM_000316.3(PTH1R):c.313+4C>T
|
rs200207404
|
0.00074
|
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met)
|
rs61752939
|
0.00074
|
NM_001017420.3(ESCO2):c.1013+7A>G
|
rs149494070
|
0.00074
|
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)
|
rs199745070
|
0.00074
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala)
|
rs200854927
|
0.00074
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00074
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)
|
rs41304731
|
0.00074
|
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)
|
rs200792504
|
0.00074
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00074
|
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp)
|
rs116099040
|
0.00074
|
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile)
|
rs61758992
|
0.00074
|
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn)
|
rs115754570
|
0.00074
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val)
|
rs143134864
|
0.00074
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00074
|
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)
|
rs138553244
|
0.00074
|
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr)
|
rs200173947
|
0.00074
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000163.5(GHR):c.686G>A (p.Arg229His)
|
rs6177
|
0.00073
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_000260.4(MYO7A):c.3503+17G>A
|
rs369969967
|
0.00073
|
NM_000388.4(CASR):c.1285C>T (p.His429Tyr)
|
rs142818334
|
0.00073
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)
|
rs200950362
|
0.00073
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_000742.4(CHRNA2):c.684C>T (p.Ser228=)
|
rs143536618
|
0.00073
|
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=)
|
rs144697999
|
0.00073
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00073
|
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=)
|
rs149579028
|
0.00073
|
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)
|
rs121917956
|
0.00073
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_001277313.2(FMN1):c.2044-1493G>T
|
rs201555719
|
0.00073
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=)
|
rs149290823
|
0.00073
|
NM_001378414.1(HDAC4):c.681C>T (p.His227=)
|
rs148880349
|
0.00073
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00073
|
NM_001379180.1(ESRRB):c.414G>A (p.Val138=)
|
rs141586518
|
0.00073
|
NM_002473.6(MYH9):c.2871C>T (p.Ser957=)
|
rs374840260
|
0.00073
|
NM_003119.4(SPG7):c.1324+10C>T
|
rs202070075
|
0.00073
|
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)
|
rs377452989
|
0.00073
|
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
|
rs150199251
|
0.00073
|
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg)
|
rs144906000
|
0.00073
|
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp)
|
rs150107747
|
0.00073
|
NM_005068.3(SIM1):c.279C>T (p.Phe93=)
|
rs145361258
|
0.00073
|
NM_005422.4(TECTA):c.2604G>T (p.Thr868=)
|
rs139509847
|
0.00073
|
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)
|
rs145641996
|
0.00073
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00073
|
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=)
|
rs140825318
|
0.00073
|
NM_014714.4(IFT140):c.1667A>G (p.His556Arg)
|
rs137925718
|
0.00073
|
NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00073
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00073
|
NM_022039.4(FBXW4):c.1380C>T (p.Phe460=)
|
rs145250200
|
0.00073
|
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139
|
0.00073
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)
|
rs113342704
|
0.00073
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg)
|
rs146764702
|
0.00073
|
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=)
|
rs145279584
|
0.00073
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00073
|
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)
|
rs113962905
|
0.00073
|
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)
|
rs200206105
|
0.00073
|
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met)
|
rs200611519
|
0.00073
|
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys)
|
rs868906137
|
0.00073
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter)
|
rs139309795
|
0.00072
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala)
|
rs140869490
|
0.00072
|
NM_001367721.1(CASK):c.1794C>T (p.Asn598=)
|
rs143991107
|
0.00072
|
NM_001368397.1(FRMPD4):c.2829C>T (p.Tyr943=)
|
rs140515130
|
0.00072
|
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala)
|
rs201026246
|
0.00072
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)
|
rs146630369
|
0.00072
|
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)
|
rs117209107
|
0.00072
|
NM_005045.4(RELN):c.1035A>G (p.Leu345=)
|
rs113998363
|
0.00072
|
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met)
|
rs139043074
|
0.00072
|
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)
|
rs149359674
|
0.00072
|
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr)
|
rs140874089
|
0.00072
|
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=)
|
rs72870766
|
0.00072
|
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385
|
0.00072
|
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)
|
rs147325795
|
0.00072
|
NM_022081.6(HPS4):c.*5C>T
|
rs373741660
|
0.00072
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_031471.6(FERMT3):c.615C>T (p.Pro205=)
|
rs142774418
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)
|
rs201667254
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000346.4(SOX9):c.531G>A (p.Arg177=)
|
rs144824678
|
0.00071
|
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg)
|
rs142506651
|
0.00071
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)
|
rs138064129
|
0.00071
|
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)
|
rs147143094
|
0.00071
|
NM_001083961.2(WDR62):c.1769-7C>T
|
rs137919897
|
0.00071
|
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His)
|
rs142687030
|
0.00071
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val)
|
rs200728466
|
0.00071
|
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=)
|
rs370427146
|
0.00071
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)
|
rs55838839
|
0.00071
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
NM_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
0.00071
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser)
|
rs139012426
|
0.00071
|
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)
|
rs201388780
|
0.00071
|
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=)
|
rs77934864
|
0.00071
|
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg)
|
rs150583010
|
0.00071
|
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)
|
rs3176162
|
0.00071
|
NM_003336.4(UBE2A):c.321A>G (p.Thr107=)
|
rs61757566
|
0.00071
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
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_007254.4(PNKP):c.501G>A (p.Val167=)
|
rs142143566
|
0.00071
|
NM_007317.3(KIF22):c.1048C>T (p.Arg350Cys)
|
rs149860938
|
0.00071
|
NM_012418.4(FSCN2):c.984-7C>T
|
rs139335460
|
0.00071
|
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=)
|
rs146858888
|
0.00071
|
NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile)
|
rs140564566
|
0.00071
|
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
NM_057176.3(BSND):c.715C>T (p.Gln239Ter)
|
rs147394986
|
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_144596.4(TTC8):c.1231G>A (p.Gly411Arg)
|
rs139773124
|
0.00071
|
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val)
|
rs34779331
|
0.00071
|
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)
|
rs113163375
|
0.00071
|
NM_198428.3(BBS9):c.2214C>T (p.Ile738=)
|
rs148536971
|
0.00071
|
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)
|
rs141391984
|
0.00070
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000183.3(HADHB):c.246A>G (p.Ala82=)
|
rs151302743
|
0.00070
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_000368.5(TSC1):c.273G>A (p.Ser91=)
|
rs115097221
|
0.00070
|
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)
|
rs199915216
|
0.00070
|
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser)
|
rs111969225
|
0.00070
|
NM_001083961.2(WDR62):c.922A>G (p.Ile308Val)
|
rs146229976
|
0.00070
|
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met)
|
rs61749720
|
0.00070
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_001267550.2(TTN):c.30224-8T>G
|
rs72650010
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)
|
rs145690714
|
0.00070
|
NM_001371279.1(REEP1):c.231G>A (p.Leu77=)
|
rs139808535
|
0.00070
|
NM_001453.3(FOXC1):c.597C>G (p.Arg199=)
|
rs529227054
|
0.00070
|
NM_001701.4(BAAT):c.685G>A (p.Val229Ile)
|
rs141722672
|
0.00070
|
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)
|
rs143651470
|
0.00070
|
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=)
|
rs148195895
|
0.00070
|
NM_004380.3(CREBBP):c.3698+7G>A
|
rs374345970
|
0.00070
|
NM_004568.6(SERPINB6):c.750C>T (p.Tyr250=)
|
rs35617833
|
0.00070
|
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=)
|
rs139091551
|
0.00070
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
NM_022124.6(CDH23):c.5667C>T (p.Asn1889=)
|
rs375358318
|
0.00070
|
NM_024312.5(GNPTAB):c.323+36A>G
|
rs182910639
|
0.00070
|
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)
|
rs141089495
|
0.00070
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)
|
rs201591640
|
0.00070
|
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)
|
rs111367233
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp)
|
rs138836357
|
0.00069
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
|
rs148938083
|
0.00069
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
|
rs146839867
|
0.00069
|
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)
|
rs199794705
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_001127222.2(CACNA1A):c.1083-4C>G
|
rs201056216
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys)
|
rs146226591
|
0.00069
|
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)
|
rs201366522
|
0.00069
|
NM_001966.4(EHHADH):c.1814A>G (p.Lys605Arg)
|
rs140844253
|
0.00069
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
NM_004006.3(DMD):c.4125T>C (p.Thr1375=)
|
rs144329742
|
0.00069
|
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)
|
rs146419641
|
0.00069
|
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn)
|
rs201027172
|
0.00069
|
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)
|
rs148818431
|
0.00069
|
NM_014927.5(CNKSR2):c.2199G>A (p.Thr733=)
|
rs113091231
|
0.00069
|
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His)
|
rs61739637
|
0.00069
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_020754.4(ARHGAP31):c.452G>A (p.Arg151Gln)
|
rs201519981
|
0.00069
|
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=)
|
rs148632119
|
0.00069
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731
|
0.00069
|
NM_139058.3(ARX):c.447G>C (p.Ala149=)
|
rs745705522
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=)
|
rs200273549
|
0.00069
|
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)
|
rs147371835
|
0.00069
|
NM_000443.4(ABCB4):c.696C>T (p.Ala232=)
|
rs8187791
|
0.00068
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_001017995.3(SH3PXD2B):c.785+4C>G
|
rs369555721
|
0.00068
|
NM_001039876.3(SYNE4):c.243T>C (p.Ser81=)
|
rs149158221
|
0.00068
|
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=)
|
rs6706924
|
0.00068
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)
|
rs142220309
|
0.00068
|
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)
|
rs183923129
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001347721.2(DYRK1A):c.1644+73C>A
|
rs200322053
|
0.00068
|
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg)
|
rs143028540
|
0.00068
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00068
|
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
0.00068
|
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=)
|
rs146311719
|
0.00068
|
NM_004333.6(BRAF):c.1332G>A (p.Arg444=)
|
rs56101602
|
0.00068
|
NM_005199.5(CHRNG):c.663G>A (p.Ala221=)
|
rs150556220
|
0.00068
|
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)
|
rs150847674
|
0.00068
|
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser)
|
rs139185707
|
0.00068
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)
|
rs202093691
|
0.00068
|
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)
|
rs138393827
|
0.00068
|
NM_018006.5(TRMU):c.900G>T (p.Leu300=)
|
rs113846383
|
0.00068
|
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr)
|
rs200266424
|
0.00068
|
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)
|
rs142974468
|
0.00068
|
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
|
rs35630194
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=)
|
rs111683745
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg)
|
rs151242039
|
0.00068
|
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)
|
rs145401144
|
0.00068
|
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly)
|
rs142690727
|
0.00068
|
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)
|
rs149776188
|
0.00068
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)
|
rs17848485
|
0.00067
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)
|
rs61753220
|
0.00067
|
NM_000318.3(PEX2):c.722G>T (p.Gly241Val)
|
rs150734057
|
0.00067
|
NM_000478.6(ALPL):c.612C>T (p.Ile204=)
|
rs141448778
|
0.00067
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
NM_000875.5(IGF1R):c.2570A>G (p.Asn857Ser)
|
rs45611935
|
0.00067
|
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys)
|
rs141802822
|
0.00067
|
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro)
|
rs143346057
|
0.00067
|
NM_001039958.2(MESP2):c.*9G>A
|
rs187680280
|
0.00067
|
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=)
|
rs76956936
|
0.00067
|
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser)
|
rs143244149
|
0.00067
|
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=)
|
rs45484792
|
0.00067
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
NM_001159699.2(FHL1):c.114G>A (p.Lys38=)
|
rs140149764
|
0.00067
|
NM_001242957.3(MAK):c.975G>A (p.Pro325=)
|
rs145014649
|
0.00067
|
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr)
|
rs545740473
|
0.00067
|
NM_001330677.2(TBX15):c.1728A>G (p.Gln576=)
|
rs200564235
|
0.00067
|
NM_001368397.1(FRMPD4):c.3738C>T (p.His1246=)
|
rs151079505
|
0.00067
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln)
|
rs140018418
|
0.00067
|
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)
|
rs145884117
|
0.00067
|
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=)
|
rs75433477
|
0.00067
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00067
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
NM_004403.3(GSDME):c.823A>G (p.Ile275Val)
|
rs149956122
|
0.00067
|
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu)
|
rs143773937
|
0.00067
|
NM_012470.4(TNPO3):c.-9G>A
|
rs201636723
|
0.00067
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_014425.5(INVS):c.367C>T (p.Arg123Trp)
|
rs149315279
|
0.00067
|
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val)
|
rs139191491
|
0.00067
|
NM_016239.4(MYO15A):c.8157C>T (p.His2719=)
|
rs373955726
|
0.00067
|
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)
|
rs151130105
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn)
|
rs201261159
|
0.00067
|
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)
|
rs369227219
|
0.00067
|
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)
|
rs147205930
|
0.00067
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821
|
0.00067
|
NM_139343.3(BIN1):c.30G>A (p.Thr10=)
|
rs35535012
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_198904.4(GABRG2):c.798T>C (p.Phe266=)
|
rs115126975
|
0.00067
|
NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met)
|
rs149065013
|
0.00067
|
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)
|
rs181161119
|
0.00066
|
NM_000059.4(BRCA2):c.-15A>C
|
rs138705202
|
0.00066
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu)
|
rs141764012
|
0.00066
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)
|
rs56142348
|
0.00066
|
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)
|
rs117896500
|
0.00066
|
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=)
|
rs139946168
|
0.00066
|
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)
|
rs147445499
|
0.00066
|
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)
|
rs41308303
|
0.00066
|
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)
|
rs200750234
|
0.00066
|
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)
|
rs138101005
|
0.00066
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr)
|
rs185586839
|
0.00066
|
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)
|
rs200491758
|
0.00066
|
NM_001384140.1(PCDH15):c.5022C>T (p.Ala1674=)
|
rs377244811
|
0.00066
|
NM_001966.4(EHHADH):c.881C>T (p.Ala294Val)
|
rs140514906
|
0.00066
|
NM_002206.3(ITGA7):c.1722C>A (p.Ala574=)
|
rs142311782
|
0.00066
|
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)
|
rs142228240
|
0.00066
|
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)
|
rs151036570
|
0.00066
|
NM_002473.6(MYH9):c.591G>A (p.Ser197=)
|
rs140241271
|
0.00066
|
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=)
|
rs201479143
|
0.00066
|
NM_002905.5(RDH5):c.753C>T (p.Arg251=)
|
rs141783438
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser)
|
rs113997424
|
0.00066
|
NM_003742.4(ABCB11):c.383G>A (p.Arg128His)
|
rs181533618
|
0.00066
|
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)
|
rs148185533
|
0.00066
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00066
|
NM_004006.3(DMD):c.1812C>T (p.Ala604=)
|
rs140919039
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_004098.4(EMX2):c.105A>T (p.Ala35=)
|
rs373030604
|
0.00066
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00066
|
NM_004463.3(FGD1):c.1647G>A (p.Glu549=)
|
rs142114385
|
0.00066
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)
|
rs146309392
|
0.00066
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)
|
rs1800740
|
0.00066
|
NM_013382.7(POMT2):c.1935C>T (p.Leu645=)
|
rs141193672
|
0.00066
|
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys)
|
rs112113370
|
0.00066
|
NM_018136.5(ASPM):c.844A>C (p.Asn282His)
|
rs113777932
|
0.00066
|
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr)
|
rs77736715
|
0.00066
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
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_025265.4(TSEN2):c.1332A>G (p.Lys444=)
|
rs113981920
|
0.00066
|
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)
|
rs142981643
|
0.00066
|
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)
|
rs201416399
|
0.00066
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
NM_147196.3(TMIE):c.206C>T (p.Ser69Phe)
|
rs188085072
|
0.00066
|
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)
|
rs112634620
|
0.00066
|
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)
|
rs116174472
|
0.00066
|
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)
|
rs201799566
|
0.00066
|
NM_000306.4(POU1F1):c.605-5T>G
|
rs201406891
|
0.00065
|
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=)
|
rs149753273
|
0.00065
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_000660.7(TGFB1):c.918C>T (p.Leu306=)
|
rs72480429
|
0.00065
|
NM_001008215.3(COA5):c.*3C>G
|
rs372867268
|
0.00065
|
NM_001130987.2(DYSF):c.990C>T (p.Leu330=)
|
rs140809078
|
0.00065
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=)
|
rs200463088
|
0.00065
|
NM_001277313.2(FMN1):c.2044-2686C>T
|
rs202063843
|
0.00065
|
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)
|
rs146000214
|
0.00065
|
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=)
|
rs186449817
|
0.00065
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_001386298.1(CIC):c.5279C>T (p.Ala1760Val)
|
rs45596843
|
0.00065
|
NM_004086.3(COCH):c.153A>C (p.Pro51=)
|
rs573330522
|
0.00065
|
NM_004608.4(TBX6):c.585C>T (p.Val195=)
|
rs148435229
|
0.00065
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
NM_005732.4(RAD50):c.671G>A (p.Arg224His)
|
rs28903088
|
0.00065
|
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly)
|
rs200545555
|
0.00065
|
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)
|
rs62617075
|
0.00065
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr)
|
rs144748043
|
0.00065
|
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)
|
rs140286824
|
0.00065
|
NM_022436.3(ABCG5):c.510C>T (p.Ala170=)
|
rs147061424
|
0.00065
|
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)
|
rs143451766
|
0.00065
|
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)
|
rs139921272
|
0.00065
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000059.4(BRCA2):c.7007+53G>A
|
rs56014558
|
0.00064
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)
|
rs147283849
|
0.00064
|
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)
|
rs146354196
|
0.00064
|
NM_000334.4(SCN4A):c.3774+8G>A
|
rs374806849
|
0.00064
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His)
|
rs56248469
|
0.00064
|
NM_001015880.2(PAPSS2):c.1167C>T (p.Asp389=)
|
rs145242127
|
0.00064
|
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu)
|
rs142525507
|
0.00064
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp)
|
rs201620814
|
0.00064
|
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=)
|
rs144131971
|
0.00064
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)
|
rs377180286
|
0.00064
|
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)
|
rs199784966
|
0.00064
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)
|
rs72648266
|
0.00064
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00064
|
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser)
|
rs76714828
|
0.00064
|
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)
|
rs150669855
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile)
|
rs143917509
|
0.00064
|
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
|
rs143057250
|
0.00064
|
NM_004006.3(DMD):c.2199C>T (p.Ser733=)
|
rs149882431
|
0.00064
|
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=)
|
rs35225938
|
0.00064
|
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)
|
rs79157191
|
0.00064
|
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His)
|
rs35892240
|
0.00064
|
NM_006662.3(SRCAP):c.4563T>A (p.Pro1521=)
|
rs138541811
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp)
|
rs571095192
|
0.00064
|
NM_012418.4(FSCN2):c.1274-3C>T
|
rs201054437
|
0.00064
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=)
|
rs199557439
|
0.00064
|
NM_016356.5(DCDC2):c.402G>A (p.Pro134=)
|
rs142088541
|
0.00064
|
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser)
|
rs144918959
|
0.00064
|
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His)
|
rs189967386
|
0.00064
|
NM_153676.4(USH1C):c.669C>A (p.Gly223=)
|
rs144761543
|
0.00064
|
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)
|
rs200437377
|
0.00064
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His)
|
rs180748688
|
0.00064
|
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)
|
rs202170644
|
0.00064
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=)
|
rs375568532
|
0.00064
|
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln)
|
rs117962829
|
0.00064
|
NM_000202.8(IDS):c.396G>A (p.Ser132=)
|
rs147108245
|
0.00063
|
NM_000217.3(KCNA1):c.611G>A (p.Arg204His)
|
rs2229000
|
0.00063
|
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
rs74346519
|
0.00063
|
NM_000377.3(WAS):c.538C>A (p.His180Asn)
|
rs145040665
|
0.00063
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)
|
rs200330469
|
0.00063
|
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=)
|
rs113239186
|
0.00063
|
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp)
|
rs201086495
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
NM_001039876.3(SYNE4):c.277G>A (p.Glu93Lys)
|
rs145204031
|
0.00063
|
NM_001039876.3(SYNE4):c.756G>A (p.Ala252=)
|
rs137899688
|
0.00063
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00063
|
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)
|
rs138232280
|
0.00063
|
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe)
|
rs200251444
|
0.00063
|
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)
|
rs374780430
|
0.00063
|
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)
|
rs199827465
|
0.00063
|
NM_001206979.2(NR1H4):c.18T>C (p.Asn6=)
|
rs140648896
|
0.00063
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00063
|
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn)
|
rs112009206
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00063
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)
|
rs144291418
|
0.00063
|
NM_001793.6(CDH3):c.1785C>T (p.Val595=)
|
rs376302917
|
0.00063
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_003193.5(TBCE):c.100+6C>T
|
rs182896657
|
0.00063
|
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn)
|
rs138399787
|
0.00063
|
NM_005629.4(SLC6A8):c.777+4C>T
|
rs201581661
|
0.00063
|
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp)
|
rs144783536
|
0.00063
|
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His)
|
rs199589423
|
0.00063
|
NM_006516.4(SLC2A1):c.276-7T>C
|
rs369273744
|
0.00063
|
NM_006662.3(SRCAP):c.5469T>C (p.Leu1823=)
|
rs370111987
|
0.00063
|
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)
|
rs138817389
|
0.00063
|
NM_014140.4(SMARCAL1):c.863-9C>G
|
rs188833040
|
0.00063
|
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=)
|
rs143286960
|
0.00063
|
NM_014208.3(DSPP):c.1073G>A (p.Arg358Lys)
|
rs201110163
|
0.00063
|
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=)
|
rs7229488
|
0.00063
|
NM_017668.3(NDE1):c.386+9G>A
|
rs147174812
|
0.00063
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_022124.6(CDH23):c.1185C>T (p.Ser395=)
|
rs185105210
|
0.00063
|
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)
|
rs146801512
|
0.00063
|
NM_025074.7(FRAS1):c.969G>A (p.Val323=)
|
rs377333036
|
0.00063
|
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)
|
rs142415050
|
0.00063
|
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)
|
rs147202164
|
0.00063
|
NM_133497.4(KCNV2):c.756G>A (p.Lys252=)
|
rs138861317
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=)
|
rs141057568
|
0.00063
|
NM_201384.3(PLEC):c.10158G>A (p.Ala3386=)
|
rs373820763
|
0.00063
|
NM_201384.3(PLEC):c.7098G>T (p.Arg2366=)
|
rs79489944
|
0.00063
|
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)
|
rs111033333
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)
|
rs61755813
|
0.00062
|
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His)
|
rs148393425
|
0.00062
|
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)
|
rs375534041
|
0.00062
|
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)
|
rs200970855
|
0.00062
|
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=)
|
rs145101180
|
0.00062
|
NM_001173467.3(SP7):c.1272G>A (p.Glu424=)
|
rs182820275
|
0.00062
|
NM_001252024.2(TRPM1):c.507C>T (p.His169=)
|
rs201157794
|
0.00062
|
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)
|
rs200118743
|
0.00062
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=)
|
rs147131392
|
0.00062
|
NM_001457.4(FLNB):c.6843C>T (p.Ile2281=)
|
rs140332932
|
0.00062
|
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
|
rs200662317
|
0.00062
|
NM_003049.4(SLC10A1):c.957G>A (p.Met319Ile)
|
rs149272163
|
0.00062
|
NM_004006.3(DMD):c.1028G>A (p.Arg343His)
|
rs61733589
|
0.00062
|
NM_005249.5(FOXG1):c.489C>T (p.Gly163=)
|
rs375378714
|
0.00062
|
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)
|
rs139842104
|
0.00062
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)
|
rs118064970
|
0.00062
|
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)
|
rs151051452
|
0.00062
|
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=)
|
rs149964599
|
0.00062
|
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met)
|
rs145154884
|
0.00062
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)
|
rs200958035
|
0.00062
|
NM_021072.4(HCN1):c.1619-3T>C
|
rs376434225
|
0.00062
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00062
|
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)
|
rs147091667
|
0.00062
|
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=)
|
rs146899730
|
0.00062
|
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=)
|
rs200435877
|
0.00062
|
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)
|
rs138452760
|
0.00062
|
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)
|
rs151317163
|
0.00062
|
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp)
|
rs145977158
|
0.00062
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)
|
rs147426329
|
0.00061
|
NM_000283.4(PDE6B):c.2193+15C>T
|
rs376883350
|
0.00061
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
NM_000875.5(IGF1R):c.2121C>T (p.Ala707=)
|
rs34129005
|
0.00061
|
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=)
|
rs144228973
|
0.00061
|
NM_001032382.2(PQBP1):c.*6C>T
|
rs181088115
|
0.00061
|
NM_001089.3(ABCA3):c.385G>A (p.Val129Met)
|
rs137924161
|
0.00061
|
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys)
|
rs138376525
|
0.00061
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00061
|
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe)
|
rs182866658
|
0.00061
|
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)
|
rs371737085
|
0.00061
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)
|
rs370036981
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=)
|
rs371344165
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)
|
rs367949317
|
0.00061
|
NM_001330260.2(SCN8A):c.2371-6A>G
|
rs187002252
|
0.00061
|
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=)
|
rs149640638
|
0.00061
|
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)
|
rs149346064
|
0.00061
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln)
|
rs200707391
|
0.00061
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)
|
rs143848379
|
0.00061
|
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)
|
rs147637674
|
0.00061
|
NM_002206.3(ITGA7):c.537G>A (p.Gly179=)
|
rs145463677
|
0.00061
|
NM_002334.4(LRP4):c.570C>T (p.Pro190=)
|
rs147353838
|
0.00061
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
|
rs62640034
|
0.00061
|
NM_002900.3(RBP3):c.126G>A (p.Pro42=)
|
rs146175391
|
0.00061
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
NM_004463.3(FGD1):c.622T>C (p.Ser208Pro)
|
rs148139633
|
0.00061
|
NM_005378.6(MYCN):c.8G>C (p.Ser3Thr)
|
rs373683425
|
0.00061
|
NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val)
|
rs147889360
|
0.00061
|
NM_005957.5(MTHFR):c.1032-6A>G
|
rs2066464
|
0.00061
|
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)
|
rs146124454
|
0.00061
|
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His)
|
rs142176861
|
0.00061
|
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=)
|
rs138152469
|
0.00061
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val)
|
rs61756249
|
0.00061
|
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)
|
rs142299878
|
0.00061
|
NM_014026.6(DCPS):c.87G>T (p.Glu29Asp)
|
rs147935593
|
0.00061
|
NM_014780.5(CUL7):c.2163T>C (p.Asp721=)
|
rs145572983
|
0.00061
|
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)
|
rs199628481
|
0.00061
|
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)
|
rs374146357
|
0.00061
|
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser)
|
rs146787541
|
0.00061
|
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)
|
rs146121135
|
0.00061
|
NM_022455.5(NSD1):c.480C>T (p.Asp160=)
|
rs79427433
|
0.00061
|
NM_031220.4(PITPNM3):c.216C>T (p.Asp72=)
|
rs61755429
|
0.00061
|
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=)
|
rs148451236
|
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_080916.3(DGUOK):c.708-3T>C
|
rs370071744
|
0.00061
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)
|
rs73273219
|
0.00061
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=)
|
rs144904215
|
0.00061
|
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys)
|
rs139466191
|
0.00061
|
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp)
|
rs144056525
|
0.00061
|
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=)
|
rs377059744
|
0.00061
|
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp)
|
rs201041716
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala)
|
rs78880369
|
0.00060
|
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
|
rs199917719
|
0.00060
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His)
|
rs200950723
|
0.00060
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)
|
rs111759871
|
0.00060
|
NM_005506.4(SCARB2):c.424-4G>A
|
rs368869126
|
0.00060
|
NM_012301.4(MAGI2):c.3706+5G>A
|
rs188293910
|
0.00060
|
NM_015915.5(ATL1):c.1200G>A (p.Lys400=)
|
rs144792471
|
0.00060
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
NM_022437.3(ABCG8):c.576C>T (p.Ile192=)
|
rs148058949
|
0.00060
|
NM_024301.5(FKRP):c.636G>A (p.Ala212=)
|
rs370099812
|
0.00060
|
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
NM_030665.4(RAI1):c.303C>T (p.Gly101=)
|
rs143836684
|
0.00060
|
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln)
|
rs141317462
|
0.00060
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys)
|
rs376401006
|
0.00060
|
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)
|
rs199833843
|
0.00060
|
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=)
|
rs182216709
|
0.00060
|
NM_153676.4(USH1C):c.360C>T (p.Gly120=)
|
rs140869579
|
0.00060
|
NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=)
|
rs184770223
|
0.00060
|
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)
|
rs146244669
|
0.00060
|
NM_182961.4(SYNE1):c.5421+9G>T
|
rs376218204
|
0.00060
|
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=)
|
rs140556653
|
0.00059
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00059
|
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=)
|
rs17216324
|
0.00059
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)
|
rs201820569
|
0.00059
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)
|
rs28364997
|
0.00059
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)
|
rs147945403
|
0.00059
|
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)
|
rs146970014
|
0.00059
|
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)
|
rs77705198
|
0.00059
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00059
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=)
|
rs72648216
|
0.00059
|
NM_001319074.4(RAX2):c.156G>A (p.Pro52=)
|
rs141804618
|
0.00059
|
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=)
|
rs55640811
|
0.00059
|
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)
|
rs200682458
|
0.00059
|
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His)
|
rs138987487
|
0.00059
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
NM_001384910.1(GUCA1A):c.600C>T (p.Ala200=)
|
rs149482975
|
0.00059
|
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=)
|
rs116817879
|
0.00059
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr)
|
rs146431168
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)
|
rs148023627
|
0.00059
|
NM_014425.5(INVS):c.2313T>C (p.Asp771=)
|
rs147112151
|
0.00059
|
NM_020779.4(WDR35):c.1227A>G (p.Thr409=)
|
rs148828104
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_133379.5(TTN):c.10920T>C (p.Ser3640=)
|
rs142585268
|
0.00059
|
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)
|
rs150905950
|
0.00059
|
NM_183357.3(ADCY5):c.3336C>T (p.Ser1112=)
|
rs141922371
|
0.00059
|
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
|
rs140263823
|
0.00058
|
NM_000035.4(ALDOB):c.525C>T (p.Ala175=)
|
rs144196914
|
0.00058
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
NM_000157.4(GBA1):c.1497G>C (p.Val499=)
|
rs1135675
|
0.00058
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000208.4(INSR):c.2295C>T (p.Gly765=)
|
rs142654992
|
0.00058
|
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp)
|
rs763248287
|
0.00058
|
NM_000257.4(MYH7):c.2514G>A (p.Pro838=)
|
rs45560638
|
0.00058
|
NM_000373.4(UMPS):c.126C>A (p.Gly42=)
|
rs143828400
|
0.00058
|
NM_000492.4(CFTR):c.3717+45G>A
|
rs145743767
|
0.00058
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
NM_000540.3(RYR1):c.2682+7G>A
|
rs201498416
|
0.00058
|
NM_000552.5(VWF):c.1329C>T (p.Ser443=)
|
rs142404899
|
0.00058
|
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
0.00058
|
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=)
|
rs8192486
|
0.00058
|
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile)
|
rs148434423
|
0.00058
|
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)
|
rs145734811
|
0.00058
|
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)
|
rs200793989
|
0.00058
|
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)
|
rs142702703
|
0.00058
|
NM_001159773.2(CANT1):c.966C>T (p.Ser322=)
|
rs140989921
|
0.00058
|
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)
|
rs145300090
|
0.00058
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met)
|
rs201617759
|
0.00058
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)
|
rs183844833
|
0.00058
|
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=)
|
rs201045619
|
0.00058
|
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu)
|
rs771000169
|
0.00058
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
NM_001966.4(EHHADH):c.1068C>T (p.His356=)
|
rs142166617
|
0.00058
|
NM_002334.4(LRP4):c.1194A>G (p.Glu398=)
|
rs138589242
|
0.00058
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys)
|
rs143972531
|
0.00058
|
NM_002764.4(PRPS1):c.942C>T (p.Ser314=)
|
rs147731055
|
0.00058
|
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser)
|
rs61731136
|
0.00058
|
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu)
|
rs140827311
|
0.00058
|
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)
|
rs147702169
|
0.00058
|
NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly)
|
rs143960528
|
0.00058
|
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)
|
rs139383288
|
0.00058
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)
|
rs794727076
|
0.00058
|
NM_012254.3(SLC27A5):c.743G>A (p.Arg248His)
|
rs138318343
|
0.00058
|
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu)
|
rs147731667
|
0.00058
|
NM_014491.4(FOXP2):c.1843G>A (p.Ala615Thr)
|
rs182138317
|
0.00058
|
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val)
|
rs200930743
|
0.00058
|
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)
|
rs113856002
|
0.00058
|
NM_024408.4(NOTCH2):c.423G>A (p.Glu141=)
|
rs149906722
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)
|
rs138434761
|
0.00058
|
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln)
|
rs201560745
|
0.00058
|
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)
|
rs144826521
|
0.00058
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln)
|
rs147873489
|
0.00058
|
NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln)
|
rs201359669
|
0.00058
|
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=)
|
rs201000414
|
0.00058
|
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg)
|
rs141397112
|
0.00058
|
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)
|
rs143093185
|
0.00058
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=)
|
rs55978207
|
0.00057
|
NM_000141.5(FGFR2):c.759T>G (p.Pro253=)
|
rs3135755
|
0.00057
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)
|
rs61749682
|
0.00057
|
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His)
|
rs139188247
|
0.00057
|
NM_000460.4(THPO):c.639T>A (p.Thr213=)
|
rs1042348
|
0.00057
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
|
rs45482691
|
0.00057
|
NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)
|
rs776791710
|
0.00057
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)
|
rs199793367
|
0.00057
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=)
|
rs190978463
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)
|
rs200121902
|
0.00057
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_001330078.2(NRXN1):c.24C>T (p.Arg8=)
|
rs200113281
|
0.00057
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
NM_001458.5(FLNC):c.2390-8C>G
|
rs146063718
|
0.00057
|
NM_001848.3(COL6A1):c.993C>T (p.Asp331=)
|
rs373948031
|
0.00057
|
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)
|
rs149077114
|
0.00057
|
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=)
|
rs200939188
|
0.00057
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)
|
rs143948239
|
0.00057
|
NM_012254.3(SLC27A5):c.1338G>A (p.Gly446=)
|
rs148459550
|
0.00057
|
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=)
|
rs115398922
|
0.00057
|
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)
|
rs138613460
|
0.00057
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_030665.4(RAI1):c.3318C>A (p.Ala1106=)
|
rs34206150
|
0.00057
|
NM_030665.4(RAI1):c.5253C>T (p.Ala1751=)
|
rs34383407
|
0.00057
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=)
|
rs112566179
|
0.00056
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_000327.4(ROM1):c.940G>A (p.Gly314Arg)
|
rs141919268
|
0.00056
|
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=)
|
rs76302654
|
0.00056
|
NM_000410.4(HFE):c.884T>C (p.Val295Ala)
|
rs143175221
|
0.00056
|
NM_000426.4(LAMA2):c.7300+10T>A
|
rs200469923
|
0.00056
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln)
|
rs373178892
|
0.00056
|
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=)
|
rs373587801
|
0.00056
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
0.00056
|
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)
|
rs149707354
|
0.00056
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser)
|
rs146093652
|
0.00056
|
NM_001605.3(AARS1):c.600C>T (p.Ala200=)
|
rs150080663
|
0.00056
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
NM_002474.3(MYH11):c.2649G>A (p.Ser883=)
|
rs150943863
|
0.00056
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
NM_003193.5(TBCE):c.833+8G>T
|
rs372236046
|
0.00056
|
NM_004006.3(DMD):c.8436T>C (p.Leu2812=)
|
rs139365076
|
0.00056
|
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser)
|
rs181854355
|
0.00056
|
NM_005045.4(RELN):c.3147-4A>G
|
rs375230548
|
0.00056
|
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)
|
rs373411041
|
0.00056
|
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)
|
rs143109401
|
0.00056
|
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp)
|
rs117173425
|
0.00056
|
NM_015915.5(ATL1):c.631-7T>A
|
rs186528086
|
0.00056
|
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly)
|
rs142901223
|
0.00056
|
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met)
|
rs144938364
|
0.00056
|
NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr)
|
rs147385529
|
0.00056
|
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)
|
rs147522485
|
0.00056
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060
|
0.00056
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00056
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_170699.3(GPBAR1):c.329G>A (p.Arg110His)
|
rs186702546
|
0.00056
|
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)
|
rs144105769
|
0.00056
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00056
|
NM_198525.3(KIF7):c.3264C>T (p.Leu1088=)
|
rs138764398
|
0.00056
|
NM_201384.3(PLEC):c.13509C>T (p.Arg4503=)
|
rs190789703
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_000452.3(SLC10A2):c.175C>T (p.Leu59=)
|
rs150970825
|
0.00055
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_000843.4(GRM6):c.1571C>T (p.Pro524Leu)
|
rs143491269
|
0.00055
|
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)
|
rs143475751
|
0.00055
|
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)
|
rs143895253
|
0.00055
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001267550.2(TTN):c.44548+9A>G
|
rs372725070
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)
|
rs2071848
|
0.00055
|
NM_001297.5(CNGB1):c.2370-9C>T
|
rs374373659
|
0.00055
|
NM_001304438.2(TMEM132E):c.2655A>C (p.Thr885=)
|
rs146702736
|
0.00055
|
NM_001374385.1(ATP8B1):c.114T>G (p.Ser38=)
|
rs141463153
|
0.00055
|
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)
|
rs144411579
|
0.00055
|
NM_001614.5(ACTG1):c.228C>T (p.Val76=)
|
rs143028649
|
0.00055
|
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys)
|
rs147990742
|
0.00055
|
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln)
|
rs139283183
|
0.00055
|
NM_014208.3(DSPP):c.768C>T (p.Asp256=)
|
rs374400491
|
0.00055
|
NM_014639.4(SKIC3):c.3341+9A>G
|
rs376170264
|
0.00055
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00055
|
NM_022124.6(CDH23):c.1752+6G>A
|
rs369013539
|
0.00055
|
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp)
|
rs2229790
|
0.00055
|
NM_181303.2(NLGN3):c.603C>G (p.Pro201=)
|
rs35794236
|
0.00055
|
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=)
|
rs373646325
|
0.00055
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00055
|
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=)
|
rs9542305
|
0.00055
|
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)
|
rs200722246
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)
|
rs150124840
|
0.00054
|
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)
|
rs17109853
|
0.00054
|
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)
|
rs183974372
|
0.00054
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00054
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_000553.6(WRN):c.3453G>A (p.Glu1151=)
|
rs144116311
|
0.00054
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=)
|
rs144666114
|
0.00054
|
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)
|
rs140614903
|
0.00054
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=)
|
rs56375542
|
0.00054
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_001701.4(BAAT):c.341T>A (p.Val114Glu)
|
rs143561437
|
0.00054
|
NM_001943.5(DSG2):c.*2C>T
|
rs183494886
|
0.00054
|
NM_002473.6(MYH9):c.1566G>A (p.Pro522=)
|
rs145517108
|
0.00054
|
NM_003049.4(SLC10A1):c.393T>G (p.Leu131=)
|
rs61744165
|
0.00054
|
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)
|
rs11568367
|
0.00054
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu)
|
rs144732570
|
0.00054
|
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)
|
rs141651423
|
0.00054
|
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)
|
rs145152682
|
0.00054
|
NM_005045.4(RELN):c.6939T>C (p.Ile2313=)
|
rs113498433
|
0.00054
|
NM_005506.4(SCARB2):c.486C>T (p.Ala162=)
|
rs143518519
|
0.00054
|
NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr)
|
rs139052540
|
0.00054
|
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=)
|
rs148868283
|
0.00054
|
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr)
|
rs201968775
|
0.00054
|
NM_012188.5(FOXI1):c.825C>T (p.Ala275=)
|
rs147596900
|
0.00054
|
NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln)
|
rs140735182
|
0.00054
|
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449
|
0.00054
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys)
|
rs147011199
|
0.00054
|
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)
|
rs141430703
|
0.00054
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
NM_170699.3(GPBAR1):c.903G>A (p.Gly301=)
|
rs200857397
|
0.00054
|
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)
|
rs200461617
|
0.00054
|
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly)
|
rs138797058
|
0.00054
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
NM_182961.4(SYNE1):c.1730-7G>A
|
rs367603152
|
0.00054
|
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=)
|
rs200062782
|
0.00054
|
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)
|
rs150532013
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr)
|
rs140181682
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=)
|
rs113698006
|
0.00053
|
NM_000390.4(CHM):c.1244+8T>A
|
rs369829791
|
0.00053
|
NM_000417.3(IL2RA):c.711A>G (p.Thr237=)
|
rs11256354
|
0.00053
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
NM_000501.4(ELN):c.470-10C>G
|
rs200663056
|
0.00053
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu)
|
rs150434290
|
0.00053
|
NM_001039141.3(TRIOBP):c.3219G>A (p.Ala1073=)
|
rs374759271
|
0.00053
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
NM_001177316.2(SLC34A3):c.321C>T (p.Asp107=)
|
rs114286327
|
0.00053
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)
|
rs78814506
|
0.00053
|
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)
|
rs145005596
|
0.00053
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln)
|
rs137964936
|
0.00053
|
NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=)
|
rs142279745
|
0.00053
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_001614.5(ACTG1):c.1017G>C (p.Val339=)
|
rs111305526
|
0.00053
|
NM_001793.6(CDH3):c.1443C>T (p.Asp481=)
|
rs144403828
|
0.00053
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His)
|
rs201481646
|
0.00053
|
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=)
|
rs377392943
|
0.00053
|
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser)
|
rs200089754
|
0.00053
|
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)
|
rs142004123
|
0.00053
|
NM_006009.4(TUBA1A):c.4-7C>T
|
rs560491477
|
0.00053
|
NM_006019.4(TCIRG1):c.2397C>T (p.His799=)
|
rs141356870
|
0.00053
|
NM_006922.4(SCN3A):c.1381-4A>G
|
rs199597878
|
0.00053
|
NM_012210.4(TRIM32):c.*1G>A
|
rs142781513
|
0.00053
|
NM_012254.3(SLC27A5):c.1668-10C>T
|
rs375785125
|
0.00053
|
NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
NM_015294.6(TRIM37):c.2240A>G (p.Asn747Ser)
|
rs143613788
|
0.00053
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00053
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00053
|
NM_018451.5(CPAP):c.763A>G (p.Thr255Ala)
|
rs150932292
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_022124.6(CDH23):c.1446C>A (p.Val482=)
|
rs200324241
|
0.00053
|
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile)
|
rs200786014
|
0.00053
|
NM_022124.6(CDH23):c.9077+7C>T
|
rs76114420
|
0.00053
|
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser)
|
rs112039037
|
0.00053
|
NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly)
|
rs139684843
|
0.00053
|
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr)
|
rs200576500
|
0.00053
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00053
|
NM_032382.5(COG8):c.1682C>T (p.Thr561Met)
|
rs143411142
|
0.00053
|
NM_133379.5(TTN):c.14812A>G (p.Met4938Val)
|
rs145581345
|
0.00053
|
NM_133497.4(KCNV2):c.957G>A (p.Leu319=)
|
rs141378856
|
0.00053
|
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)
|
rs190396031
|
0.00053
|
NM_147196.3(TMIE):c.219G>A (p.Thr73=)
|
rs202208051
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_170784.3(MKKS):c.*10A>G
|
rs144934812
|
0.00053
|
NM_181303.2(NLGN3):c.594T>C (p.Gly198=)
|
rs144247281
|
0.00053
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=)
|
rs373341589
|
0.00053
|
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser)
|
rs151110889
|
0.00053
|
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser)
|
rs139070796
|
0.00052
|
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)
|
rs139244736
|
0.00052
|
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)
|
rs140936904
|
0.00052
|
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)
|
rs139323683
|
0.00052
|
NM_000875.5(IGF1R):c.3187-5C>T
|
rs45495500
|
0.00052
|
NM_001145026.2(PTPRQ):c.1359+2T>C
|
rs377572771
|
0.00052
|
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=)
|
rs367905297
|
0.00052
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_001353214.3(DYM):c.2172C>T (p.Asp724=)
|
rs201928717
|
0.00052
|
NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=)
|
rs33965008
|
0.00052
|
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)
|
rs200482899
|
0.00052
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)
|
rs11568361
|
0.00052
|
NM_004817.4(TJP2):c.981C>A (p.Ile327=)
|
rs147139671
|
0.00052
|
NM_004999.4(MYO6):c.1546+6T>C
|
rs199999513
|
0.00052
|
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val)
|
rs370664761
|
0.00052
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser)
|
rs75622628
|
0.00052
|
NM_014319.5(LEMD3):c.292C>T (p.Leu98Phe)
|
rs571742271
|
0.00052
|
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val)
|
rs145812868
|
0.00052
|
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)
|
rs145674759
|
0.00052
|
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)
|
rs201845569
|
0.00052
|
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)
|
rs150716811
|
0.00052
|
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)
|
rs150854966
|
0.00052
|
NM_022464.5(SIL1):c.573G>A (p.Lys191=)
|
rs148927511
|
0.00052
|
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser)
|
rs34308573
|
0.00052
|
NM_024408.4(NOTCH2):c.1567+8C>T
|
rs372367275
|
0.00052
|
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=)
|
rs151098305
|
0.00052
|
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)
|
rs148335285
|
0.00052
|
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)
|
rs140005424
|
0.00052
|
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)
|
rs147508177
|
0.00052
|
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr)
|
rs201657125
|
0.00052
|
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile)
|
rs115446826
|
0.00052
|
NM_000070.3(CAPN3):c.1746-7C>G
|
rs199978708
|
0.00051
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_000372.5(TYR):c.504C>T (p.Asn168=)
|
rs148813091
|
0.00051
|
NM_000381.4(MID1):c.1489C>T (p.Leu497=)
|
rs138629923
|
0.00051
|
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)
|
rs17222744
|
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_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg)
|
rs201506921
|
0.00051
|
NM_001083961.2(WDR62):c.477G>A (p.Ala159=)
|
rs146485488
|
0.00051
|
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)
|
rs397516621
|
0.00051
|
NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser)
|
rs147014136
|
0.00051
|
NM_001199799.2(ILDR1):c.379+10G>C
|
rs200883040
|
0.00051
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001267550.2(TTN):c.33827-8C>T
|
rs371318311
|
0.00051
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)
|
rs192788942
|
0.00051
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)
|
rs201727684
|
0.00051
|
NM_001330260.2(SCN8A):c.1677C>T (p.His559=)
|
rs202212399
|
0.00051
|
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)
|
rs104895427
|
0.00051
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=)
|
rs199861496
|
0.00051
|
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=)
|
rs201575114
|
0.00051
|
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)
|
rs144887329
|
0.00051
|
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)
|
rs200585528
|
0.00051
|
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)
|
rs143583842
|
0.00051
|
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp)
|
rs201114196
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln)
|
rs139569882
|
0.00051
|
NM_004369.4(COL6A3):c.5619C>T (p.His1873=)
|
rs146355600
|
0.00051
|
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)
|
rs148781922
|
0.00051
|
NM_004393.6(DAG1):c.1212G>A (p.Thr404=)
|
rs139781017
|
0.00051
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser)
|
rs78936193
|
0.00051
|
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=)
|
rs146216425
|
0.00051
|
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala)
|
rs143277114
|
0.00051
|
NM_006946.4(SPTBN2):c.24A>G (p.Thr8=)
|
rs141277535
|
0.00051
|
NM_012210.4(TRIM32):c.276C>T (p.Ser92=)
|
rs140589523
|
0.00051
|
NM_012301.4(MAGI2):c.2616C>T (p.Asn872=)
|
rs148005928
|
0.00051
|
NM_014014.5(SNRNP200):c.4935G>A (p.Val1645=)
|
rs375650263
|
0.00051
|
NM_014920.5(CILK1):c.1702A>G (p.Met568Val)
|
rs145842629
|
0.00051
|
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile)
|
rs375100066
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)
|
rs201415651
|
0.00051
|
NM_016929.5(CLIC5):c.253G>A (p.Val85Ile)
|
rs199808624
|
0.00051
|
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys)
|
rs150819707
|
0.00051
|
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)
|
rs151227688
|
0.00051
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=)
|
rs144399404
|
0.00051
|
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)
|
rs147582834
|
0.00051
|
NM_025074.7(FRAS1):c.3010+9G>A
|
rs148841455
|
0.00051
|
NM_032119.4(ADGRV1):c.684T>C (p.Asn228=)
|
rs181889432
|
0.00051
|
NM_032382.5(COG8):c.1017C>T (p.Gly339=)
|
rs72795277
|
0.00051
|
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys)
|
rs141706561
|
0.00051
|
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)
|
rs780400922
|
0.00051
|
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)
|
rs139372534
|
0.00051
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr)
|
rs145036293
|
0.00051
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00051
|
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)
|
rs199879193
|
0.00051
|
NM_201384.3(PLEC):c.540C>T (p.Cys180=)
|
rs189256993
|
0.00051
|
NM_000214.3(JAG1):c.1389C>T (p.Ser463=)
|
rs147229008
|
0.00050
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_001077365.2(POMT1):c.42C>T (p.Asp14=)
|
rs150937126
|
0.00050
|
NM_001122769.3(LCA5):c.1215T>G (p.Val405=)
|
rs41270545
|
0.00050
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_001146079.2(CLDN14):c.690C>T (p.His230=)
|
rs149733854
|
0.00050
|
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)
|
rs200825430
|
0.00050
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_002335.4(LRP5):c.1032G>C (p.Leu344=)
|
rs143499301
|
0.00050
|
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)
|
rs199940188
|
0.00050
|
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)
|
rs141259390
|
0.00050
|
NM_004369.4(COL6A3):c.9494-10C>T
|
rs184617787
|
0.00050
|
NM_004700.4(KCNQ4):c.708+9T>A
|
rs191389529
|
0.00050
|
NM_005045.4(RELN):c.1386C>T (p.Cys462=)
|
rs139321058
|
0.00050
|
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu)
|
rs146950983
|
0.00050
|
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)
|
rs144840779
|
0.00050
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
NM_012254.3(SLC27A5):c.1710G>A (p.Val570=)
|
rs141574728
|
0.00050
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)
|
rs191602135
|
0.00050
|
NM_022089.4(ATP13A2):c.2331C>T (p.His777=)
|
rs144708504
|
0.00050
|
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)
|
rs144047610
|
0.00050
|
NM_032119.4(ADGRV1):c.13654-7C>T
|
rs373551551
|
0.00050
|
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys)
|
rs146685593
|
0.00050
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00050
|
NM_201384.3(PLEC):c.3354G>A (p.Val1118=)
|
rs375657597
|
0.00050
|
NM_000023.4(SGCA):c.690G>C (p.Leu230=)
|
rs139454982
|
0.00049
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_000327.4(ROM1):c.342C>T (p.Leu114=)
|
rs537377404
|
0.00049
|
NM_000428.3(LTBP2):c.1686+3G>A
|
rs190814774
|
0.00049
|
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)
|
rs2303603
|
0.00049
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=)
|
rs141975755
|
0.00049
|
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)
|
rs370080995
|
0.00049
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)
|
rs369440319
|
0.00049
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=)
|
rs144424662
|
0.00049
|
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=)
|
rs115145637
|
0.00049
|
NM_001966.4(EHHADH):c.78G>A (p.Thr26=)
|
rs150381945
|
0.00049
|
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)
|
rs72705400
|
0.00049
|
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)
|
rs140406003
|
0.00049
|
NM_004407.4(DMP1):c.1107C>T (p.Asp369=)
|
rs147451774
|
0.00049
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
NM_006214.4(PHYH):c.678+5G>T
|
rs201499815
|
0.00049
|
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=)
|
rs369391284
|
0.00049
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile)
|
rs201734915
|
0.00049
|
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys)
|
rs140154015
|
0.00049
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp)
|
rs41302133
|
0.00049
|
NM_018668.5(VPS33B):c.1362C>T (p.Ala454=)
|
rs142964161
|
0.00049
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00049
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
|
rs140575619
|
0.00049
|
NM_201384.3(PLEC):c.10509G>A (p.Ala3503=)
|
rs189859084
|
0.00049
|
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=)
|
rs373958891
|
0.00049
|
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)
|
rs781946435
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_207391.3(RGS9BP):c.311C>T (p.Pro104Leu)
|
rs774841433
|
0.00049
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)
|
rs201753022
|
0.00048
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
NM_000503.6(EYA1):c.1699-8T>C
|
rs201537030
|
0.00048
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)
|
rs368907353
|
0.00048
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)
|
rs199764888
|
0.00048
|
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=)
|
rs142910512
|
0.00048
|
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly)
|
rs148494847
|
0.00048
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)
|
rs72646822
|
0.00048
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)
|
rs146261351
|
0.00048
|
NM_001429.4(EP300):c.3105C>T (p.Thr1035=)
|
rs150498069
|
0.00048
|
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg)
|
rs141698427
|
0.00048
|
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=)
|
rs117517372
|
0.00048
|
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)
|
rs751749989
|
0.00048
|
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)
|
rs148178994
|
0.00048
|
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)
|
rs185711494
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=)
|
rs199798179
|
0.00048
|
NM_004187.5(KDM5C):c.465C>T (p.Ser155=)
|
rs138520224
|
0.00048
|
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
|
rs148759919
|
0.00048
|
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala)
|
rs147012050
|
0.00048
|
NM_004523.4(KIF11):c.2914A>G (p.Thr972Ala)
|
rs143577999
|
0.00048
|
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)
|
rs199641113
|
0.00048
|
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala)
|
rs148157138
|
0.00048
|
NM_005477.3(HCN4):c.1371+9G>A
|
rs200303699
|
0.00048
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
NM_006204.4(PDE6C):c.219G>T (p.Gly73=)
|
rs140469169
|
0.00048
|
NM_006922.4(SCN3A):c.642G>A (p.Ala214=)
|
rs575814709
|
0.00048
|
NM_012254.3(SLC27A5):c.1377+10C>T
|
rs146267408
|
0.00048
|
NM_012470.4(TNPO3):c.120+9C>A
|
rs372906002
|
0.00048
|
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=)
|
rs200104274
|
0.00048
|
NM_018006.5(TRMU):c.772+8G>A
|
rs201372242
|
0.00048
|
NM_018129.4(PNPO):c.723C>G (p.Ser241=)
|
rs144362146
|
0.00048
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00048
|
NM_022124.6(CDH23):c.1078C>T (p.Leu360=)
|
rs185917383
|
0.00048
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_025193.4(HSD3B7):c.695-6C>T
|
rs139152685
|
0.00048
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00048
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser)
|
rs146102132
|
0.00048
|
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)
|
rs183674012
|
0.00048
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=)
|
rs138676073
|
0.00048
|
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=)
|
rs147321712
|
0.00048
|
NM_201384.3(PLEC):c.13641C>G (p.Ala4547=)
|
rs782535880
|
0.00048
|
NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn)
|
rs199833127
|
0.00048
|
NM_201384.3(PLEC):c.8496C>T (p.Arg2832=)
|
rs369013440
|
0.00048
|
NM_201384.3(PLEC):c.963C>T (p.Phe321=)
|
rs368425406
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu)
|
rs147753803
|
0.00048
|
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=)
|
rs11571832
|
0.00047
|
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)
|
rs201414567
|
0.00047
|
NM_000208.4(INSR):c.41T>C (p.Leu14Pro)
|
rs745857330
|
0.00047
|
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00047
|
NM_000452.3(SLC10A2):c.835A>T (p.Thr279Ser)
|
rs149096396
|
0.00047
|
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
|
rs200161949
|
0.00047
|
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)
|
rs148188703
|
0.00047
|
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp)
|
rs61730768
|
0.00047
|
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)
|
rs148546224
|
0.00047
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)
|
rs202017608
|
0.00047
|
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro)
|
rs141686175
|
0.00047
|
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)
|
rs146567534
|
0.00047
|
NM_001374385.1(ATP8B1):c.433C>T (p.Leu145=)
|
rs140634215
|
0.00047
|
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=)
|
rs201709328
|
0.00047
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)
|
rs147192139
|
0.00047
|
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)
|
rs140126185
|
0.00047
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_007254.4(PNKP):c.519C>T (p.Asp173=)
|
rs144284975
|
0.00047
|
NM_012254.3(SLC27A5):c.513C>G (p.Ala171=)
|
rs139127895
|
0.00047
|
NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile)
|
rs150780205
|
0.00047
|
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=)
|
rs61753580
|
0.00047
|
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)
|
rs148752234
|
0.00047
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
|
rs183633457
|
0.00047
|
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
|
rs137891647
|
0.00047
|
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)
|
rs146460917
|
0.00047
|
NM_152618.3(BBS12):c.978T>A (p.Thr326=)
|
rs115635198
|
0.00047
|
NM_152618.3(BBS12):c.979T>A (p.Ser327Thr)
|
rs116805550
|
0.00047
|
NM_000078.3(CETP):c.940G>A (p.Glu314Lys)
|
rs140547417
|
0.00046
|
NM_000235.4(LIPA):c.112-9T>C
|
rs200186130
|
0.00046
|
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=)
|
rs373495082
|
0.00046
|
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys)
|
rs201195495
|
0.00046
|
NM_000283.4(PDE6B):c.267C>T (p.Ala89=)
|
rs147181781
|
0.00046
|
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)
|
rs140963177
|
0.00046
|
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val)
|
rs145065936
|
0.00046
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=)
|
rs149142237
|
0.00046
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=)
|
rs146979083
|
0.00046
|
NM_001128178.3(NPHP1):c.771+134G>A
|
rs140151060
|
0.00046
|
NM_001128228.3(TPRN):c.1468G>A (p.Val490Met)
|
rs144139211
|
0.00046
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00046
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)
|
rs398124448
|
0.00046
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)
|
rs192953152
|
0.00046
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
NM_001267550.2(TTN):c.65276-8T>C
|
rs377484398
|
0.00046
|
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)
|
rs73036368
|
0.00046
|
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys)
|
rs200451158
|
0.00046
|
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)
|
rs139572764
|
0.00046
|
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu)
|
rs73174429
|
0.00046
|
NM_001374385.1(ATP8B1):c.1433A>G (p.Asp478Gly)
|
rs200214627
|
0.00046
|
NM_001378609.3(OTOGL):c.6019+5G>A
|
rs368712763
|
0.00046
|
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)
|
rs147569641
|
0.00046
|
NM_001848.3(COL6A1):c.738+14C>T
|
rs374896651
|
0.00046
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00046
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)
|
rs149653283
|
0.00046
|
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)
|
rs181657861
|
0.00046
|
NM_002335.4(LRP5):c.2324T>C (p.Ile775Thr)
|
rs144983823
|
0.00046
|
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)
|
rs200709879
|
0.00046
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
NM_004006.3(DMD):c.3162+4A>G
|
rs189048508
|
0.00046
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)
|
rs114338020
|
0.00046
|
NM_004560.4(ROR2):c.234G>A (p.Thr78=)
|
rs141093530
|
0.00046
|
NM_005045.4(RELN):c.7114G>A (p.Val2372Met)
|
rs114344654
|
0.00046
|
NM_005220.3(DLX3):c.853G>A (p.Ala285Thr)
|
rs148713638
|
0.00046
|
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)
|
rs139838884
|
0.00046
|
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=)
|
rs143776463
|
0.00046
|
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser)
|
rs151221957
|
0.00046
|
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser)
|
rs199802935
|
0.00046
|
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)
|
rs199904356
|
0.00046
|
NM_007254.4(PNKP):c.672C>T (p.Arg224=)
|
rs151180981
|
0.00046
|
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=)
|
rs147056081
|
0.00046
|
NM_015295.3(SMCHD1):c.789C>T (p.His263=)
|
rs374899324
|
0.00046
|
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=)
|
rs78315399
|
0.00046
|
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn)
|
rs202075321
|
0.00046
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_022436.3(ABCG5):c.99G>A (p.Pro33=)
|
rs149907931
|
0.00046
|
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
|
rs200346497
|
0.00046
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_153676.4(USH1C):c.2265C>T (p.Leu755=)
|
rs151251262
|
0.00046
|
NM_153676.4(USH1C):c.648G>A (p.Leu216=)
|
rs77137413
|
0.00046
|
NM_153704.6(TMEM67):c.369C>T (p.Ala123=)
|
rs115640152
|
0.00046
|
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=)
|
rs369438374
|
0.00046
|
NM_173495.3(PTCHD1):c.1665G>A (p.Val555=)
|
rs146777271
|
0.00046
|
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile)
|
rs141141950
|
0.00046
|
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg)
|
rs146668256
|
0.00046
|
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=)
|
rs151005752
|
0.00046
|
NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr)
|
rs143250090
|
0.00046
|
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=)
|
rs185082202
|
0.00046
|
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn)
|
rs371763907
|
0.00046
|
NM_201384.3(PLEC):c.8046C>T (p.Leu2682=)
|
rs375590561
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_207361.6(FREM2):c.2754C>T (p.Val918=)
|
rs140353326
|
0.00046
|
NM_000026.4(ADSL):c.702-7T>C
|
rs201509960
|
0.00045
|
NM_000095.3(COMP):c.763-8T>C
|
rs374063820
|
0.00045
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_000214.3(JAG1):c.1755C>T (p.Asn585=)
|
rs142808131
|
0.00045
|
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)
|
rs200241993
|
0.00045
|
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr)
|
rs144591812
|
0.00045
|
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)
|
rs147010346
|
0.00045
|
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)
|
rs72547505
|
0.00045
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)
|
rs184684058
|
0.00045
|
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys)
|
rs56175056
|
0.00045
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg)
|
rs137946697
|
0.00045
|
NM_001077365.2(POMT1):c.1365+15C>T
|
rs58896330
|
0.00045
|
NM_001098671.2(RASGRP2):c.371+7G>T
|
rs181901181
|
0.00045
|
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)
|
rs142769942
|
0.00045
|
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys)
|
rs143599540
|
0.00045
|
NM_001193315.2(VIPAS39):c.447+9C>T
|
rs145373891
|
0.00045
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)
|
rs139504522
|
0.00045
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)
|
rs374094732
|
0.00045
|
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys)
|
rs192843629
|
0.00045
|
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=)
|
rs201885528
|
0.00045
|
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)
|
rs146796009
|
0.00045
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)
|
rs149276836
|
0.00045
|
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)
|
rs76530653
|
0.00045
|
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=)
|
rs141259126
|
0.00045
|
NM_003289.4(TPM2):c.726C>T (p.Ala242=)
|
rs76414035
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)
|
rs139395045
|
0.00045
|
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)
|
rs201943537
|
0.00045
|
NM_005257.6(GATA6):c.1605A>G (p.Gln535=)
|
rs117646477
|
0.00045
|
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)
|
rs199638465
|
0.00045
|
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)
|
rs148788926
|
0.00045
|
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr)
|
rs144900514
|
0.00045
|
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile)
|
rs141011840
|
0.00045
|
NM_016239.4(MYO15A):c.858C>G (p.Pro286=)
|
rs200424851
|
0.00045
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)
|
rs72650720
|
0.00045
|
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)
|
rs140753861
|
0.00045
|
NM_021101.5(CLDN1):c.41C>T (p.Ala14Val)
|
rs141961866
|
0.00045
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)
|
rs111033522
|
0.00045
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)
|
rs369777874
|
0.00045
|
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)
|
rs141140798
|
0.00045
|
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val)
|
rs144226338
|
0.00045
|
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala)
|
rs145183384
|
0.00045
|
NM_201384.3(PLEC):c.759C>T (p.Thr253=)
|
rs377118309
|
0.00045
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00045
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)
|
rs202063628
|
0.00044
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=)
|
rs142646329
|
0.00044
|
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu)
|
rs142700351
|
0.00044
|
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly)
|
rs139042803
|
0.00044
|
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)
|
rs147098353
|
0.00044
|
NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser)
|
rs144739747
|
0.00044
|
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
|
rs200696965
|
0.00044
|
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val)
|
rs200663004
|
0.00044
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)
|
rs199643269
|
0.00044
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
NM_001291867.2(NHS):c.1596G>A (p.Glu532=)
|
rs146437542
|
0.00044
|
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)
|
rs201818223
|
0.00044
|
NM_001351132.2(PEX5):c.552-7G>A
|
rs189631769
|
0.00044
|
NM_001849.4(COL6A2):c.426G>A (p.Thr142=)
|
rs149480738
|
0.00044
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00044
|
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val)
|
rs141208884
|
0.00044
|
NM_004006.3(DMD):c.5586+9G>A
|
rs200025478
|
0.00044
|
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_004817.4(TJP2):c.2880+19C>T
|
rs200384355
|
0.00044
|
NM_006579.3(EBP):c.650C>T (p.Thr217Met)
|
rs150348311
|
0.00044
|
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser)
|
rs144476508
|
0.00044
|
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=)
|
rs146793500
|
0.00044
|
NM_020320.5(RARS2):c.773G>A (p.Arg258His)
|
rs145297855
|
0.00044
|
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)
|
rs531877510
|
0.00044
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
NM_032382.5(COG8):c.597C>T (p.Asn199=)
|
rs113642086
|
0.00044
|
NM_080680.3(COL11A2):c.480T>G (p.Ser160=)
|
rs142969513
|
0.00044
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00044
|
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)
|
rs184770596
|
0.00044
|
NM_133497.4(KCNV2):c.80G>A (p.Arg27His)
|
rs145731729
|
0.00044
|
NM_145239.3(PRRT2):c.439G>C (p.Asp147His)
|
rs79568162
|
0.00044
|
NM_153717.3(EVC):c.1653G>A (p.Pro551=)
|
rs151293705
|
0.00044
|
NM_170682.4(P2RX2):c.947C>T (p.Thr316Met)
|
rs150293706
|
0.00044
|
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=)
|
rs191358470
|
0.00044
|
NM_201384.3(PLEC):c.5862C>T (p.Asn1954=)
|
rs550994317
|
0.00044
|
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=)
|
rs375465011
|
0.00044
|
NM_207346.3(TSEN54):c.537G>A (p.Pro179=)
|
rs113016401
|
0.00044
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu)
|
rs146582871
|
0.00043
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)
|
rs145434723
|
0.00043
|
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)
|
rs146617004
|
0.00043
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=)
|
rs141153302
|
0.00043
|
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=)
|
rs113337758
|
0.00043
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys)
|
rs139876825
|
0.00043
|
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)
|
rs142595337
|
0.00043
|
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)
|
rs138980048
|
0.00043
|
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=)
|
rs375811590
|
0.00043
|
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)
|
rs139411595
|
0.00043
|
NM_001130987.2(DYSF):c.978A>T (p.Thr326=)
|
rs112007817
|
0.00043
|
NM_001170629.2(CHD8):c.1717-4A>G
|
rs191933523
|
0.00043
|
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)
|
rs367732133
|
0.00043
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00043
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_001429.4(EP300):c.3063T>C (p.Thr1021=)
|
rs142431552
|
0.00043
|
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser)
|
rs142718547
|
0.00043
|
NM_001701.4(BAAT):c.-6A>T
|
rs181929679
|
0.00043
|
NM_002025.4(AFF2):c.1097A>G (p.His366Arg)
|
rs199574795
|
0.00043
|
NM_002204.4(ITGA3):c.3046-4G>A
|
rs368305833
|
0.00043
|
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)
|
rs145947380
|
0.00043
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
NM_002857.4(PEX19):c.255G>A (p.Ala85=)
|
rs150928521
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_004333.6(BRAF):c.2127+3A>G
|
rs371976102
|
0.00043
|
NM_004369.4(COL6A3):c.786C>T (p.Leu262=)
|
rs111481402
|
0.00043
|
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met)
|
rs140491601
|
0.00043
|
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)
|
rs146877597
|
0.00043
|
NM_005097.4(LGI1):c.717A>C (p.Ile239=)
|
rs146425212
|
0.00043
|
NM_005120.3(MED12):c.653C>T (p.Thr218Met)
|
rs369083173
|
0.00043
|
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val)
|
rs200225298
|
0.00043
|
NM_005996.4(TBX3):c.1290C>T (p.Gly430=)
|
rs369999628
|
0.00043
|
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
NM_017780.4(CHD7):c.360C>T (p.Gly120=)
|
rs375438732
|
0.00043
|
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr)
|
rs150852085
|
0.00043
|
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)
|
rs138004478
|
0.00043
|
NM_020975.6(RET):c.1354C>A (p.Leu452Ile)
|
rs151148041
|
0.00043
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)
|
rs148456883
|
0.00043
|
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)
|
rs140382957
|
0.00043
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
NM_145239.3(PRRT2):c.828C>T (p.Cys276=)
|
rs35625748
|
0.00043
|
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)
|
rs375877997
|
0.00043
|
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)
|
rs202116866
|
0.00043
|
NM_201384.3(PLEC):c.13071C>T (p.Cys4357=)
|
rs202153947
|
0.00043
|
NM_201384.3(PLEC):c.1545C>T (p.Pro515=)
|
rs199968254
|
0.00043
|
NM_201384.3(PLEC):c.7062G>A (p.Ala2354=)
|
rs375587611
|
0.00043
|
NM_201384.3(PLEC):c.8697C>T (p.Ser2899=)
|
rs200383203
|
0.00043
|
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=)
|
rs145608939
|
0.00042
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe)
|
rs143445685
|
0.00042
|
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)
|
rs201733876
|
0.00042
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=)
|
rs369633003
|
0.00042
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
0.00042
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00042
|
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu)
|
rs145234666
|
0.00042
|
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg)
|
rs369040584
|
0.00042
|
NM_002335.4(LRP5):c.1585-9G>A
|
rs202067798
|
0.00042
|
NM_003482.4(KMT2D):c.14643+12G>A
|
rs186670730
|
0.00042
|
NM_004006.3(DMD):c.2824A>G (p.Met942Val)
|
rs371648742
|
0.00042
|
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp)
|
rs144009842
|
0.00042
|
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=)
|
rs368608408
|
0.00042
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
NM_020812.4(DOCK6):c.5088+8C>G
|
rs147181483
|
0.00042
|
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser)
|
rs199814669
|
0.00042
|
NM_130837.3(OPA1):c.2610C>T (p.Thr870=)
|
rs139934030
|
0.00042
|
NM_133379.5(TTN):c.10617T>C (p.His3539=)
|
rs200284932
|
0.00042
|
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)
|
rs72648909
|
0.00042
|
NM_144672.4(OTOA):c.1173G>A (p.Ser391=)
|
rs143326637
|
0.00042
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)
|
rs141488398
|
0.00042
|
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)
|
rs200361523
|
0.00042
|
NM_201384.3(PLEC):c.4233G>A (p.Ala1411=)
|
rs2855760
|
0.00042
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
NM_000214.3(JAG1):c.814G>A (p.Val272Ile)
|
rs148990028
|
0.00041
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)
|
rs146646008
|
0.00041
|
NM_000295.5(SERPINA1):c.-7A>G
|
rs559054925
|
0.00041
|
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
|
rs45471994
|
0.00041
|
NM_000337.6(SGCD):c.543T>G (p.Pro181=)
|
rs200451694
|
0.00041
|
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
NM_000392.5(ABCC2):c.150C>T (p.His50=)
|
rs200595851
|
0.00041
|
NM_000396.4(CTSK):c.684C>T (p.Pro228=)
|
rs142097792
|
0.00041
|
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)
|
rs61752456
|
0.00041
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile)
|
rs147652186
|
0.00041
|
NM_001127222.2(CACNA1A):c.978+9T>C
|
rs111366222
|
0.00041
|
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=)
|
rs138985089
|
0.00041
|
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)
|
rs200703321
|
0.00041
|
NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His)
|
rs200477567
|
0.00041
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)
|
rs374281025
|
0.00041
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00041
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)
|
rs201482015
|
0.00041
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=)
|
rs186402008
|
0.00041
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)
|
rs200899806
|
0.00041
|
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=)
|
rs373311745
|
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_001374353.1(GLI2):c.2034G>A (p.Thr678=)
|
rs139298853
|
0.00041
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00041
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
0.00041
|
NM_001429.4(EP300):c.739A>G (p.Met247Val)
|
rs147583157
|
0.00041
|
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln)
|
rs192467838
|
0.00041
|
NM_002471.4(MYH6):c.210T>C (p.Thr70=)
|
rs147397431
|
0.00041
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
NM_003701.4(TNFSF11):c.591C>A (p.Ser197=)
|
rs151215329
|
0.00041
|
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)
|
rs201131900
|
0.00041
|
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)
|
rs116505603
|
0.00041
|
NM_004380.3(CREBBP):c.879G>A (p.Val293=)
|
rs144344016
|
0.00041
|
NM_004817.4(TJP2):c.918C>T (p.Ile306=)
|
rs374523970
|
0.00041
|
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=)
|
rs201900751
|
0.00041
|
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)
|
rs149837553
|
0.00041
|
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)
|
rs374826256
|
0.00041
|
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)
|
rs150452237
|
0.00041
|
NM_012470.4(TNPO3):c.582T>C (p.Asp194=)
|
rs148885407
|
0.00041
|
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=)
|
rs143856702
|
0.00041
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
NM_014639.4(SKIC3):c.3079G>A (p.Gly1027Ser)
|
rs188952987
|
0.00041
|
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=)
|
rs149228705
|
0.00041
|
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)
|
rs199794578
|
0.00041
|
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=)
|
rs370155559
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)
|
rs201490643
|
0.00041
|
NM_024747.6(HPS6):c.2250G>A (p.Ser750=)
|
rs139161525
|
0.00041
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00041
|
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=)
|
rs74748737
|
0.00041
|
NM_032888.4(COL27A1):c.364C>T (p.Arg122Cys)
|
rs372265305
|
0.00041
|
NM_080680.3(COL11A2):c.1720-4G>T
|
rs369678506
|
0.00041
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00041
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
NM_173630.4(RTTN):c.1301A>C (p.Asp434Ala)
|
rs8083708
|
0.00041
|
NM_182914.3(SYNE2):c.18723+8C>T
|
rs200853043
|
0.00041
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)
|
rs141214076
|
0.00041
|
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys)
|
rs200541837
|
0.00041
|
NM_206933.4(USH2A):c.10470G>T (p.Val3490=)
|
rs201401001
|
0.00041
|
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)
|
rs138357977
|
0.00040
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000214.3(JAG1):c.1920C>T (p.Asn640=)
|
rs372121353
|
0.00040
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser)
|
rs144185168
|
0.00040
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr)
|
rs144120866
|
0.00040
|
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=)
|
rs372863999
|
0.00040
|
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=)
|
rs150570058
|
0.00040
|
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala)
|
rs375491094
|
0.00040
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
NM_001368067.1(LDB3):c.771G>A (p.Thr257=)
|
rs144445130
|
0.00040
|
NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn)
|
rs200239326
|
0.00040
|
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr)
|
rs202128602
|
0.00040
|
NM_001909.5(CTSD):c.75G>A (p.Pro25=)
|
rs140563067
|
0.00040
|
NM_003482.4(KMT2D):c.6235-6C>G
|
rs373858319
|
0.00040
|
NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala)
|
rs376483324
|
0.00040
|
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)
|
rs141862495
|
0.00040
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00040
|
NM_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=)
|
rs143291826
|
0.00040
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00040
|
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)
|
rs200716582
|
0.00040
|
NM_004463.3(FGD1):c.281A>G (p.His94Arg)
|
rs189159946
|
0.00040
|
NM_004937.3(CTNS):c.561+4C>T
|
rs111256750
|
0.00040
|
NM_006086.4(TUBB3):c.357G>A (p.Val119=)
|
rs34174718
|
0.00040
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_007254.4(PNKP):c.627G>A (p.Glu209=)
|
rs532550120
|
0.00040
|
NM_007317.3(KIF22):c.1619A>T (p.Gln540Leu)
|
rs148628152
|
0.00040
|
NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln)
|
rs146906190
|
0.00040
|
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=)
|
rs375237454
|
0.00040
|
NM_015295.3(SMCHD1):c.1957-3C>T
|
rs201069969
|
0.00040
|
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=)
|
rs372945746
|
0.00040
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met)
|
rs781777662
|
0.00040
|
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)
|
rs760039339
|
0.00040
|
NM_138694.4(PKHD1):c.129T>C (p.Asp43=)
|
rs201195801
|
0.00040
|
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)
|
rs146759786
|
0.00040
|
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)
|
rs139480065
|
0.00040
|
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=)
|
rs139525746
|
0.00040
|
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)
|
rs782590380
|
0.00040
|
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)
|
rs35821434
|
0.00040
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
NM_000026.4(ADSL):c.270T>C (p.Ala90=)
|
rs143275316
|
0.00039
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000142.5(FGFR3):c.252G>A (p.Ser84=)
|
rs367973461
|
0.00039
|
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)
|
rs140048578
|
0.00039
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000195.5(HPS1):c.700C>T (p.Leu234=)
|
rs150444975
|
0.00039
|
NM_000214.3(JAG1):c.894T>C (p.Asn298=)
|
rs149897344
|
0.00039
|
NM_000232.5(SGCB):c.768C>T (p.Ile256=)
|
rs149121189
|
0.00039
|
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
|
rs145066614
|
0.00039
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met)
|
rs149854486
|
0.00039
|
NM_000433.4(NCF2):c.93C>T (p.Ala31=)
|
rs143889676
|
0.00039
|
NM_000452.3(SLC10A2):c.415G>A (p.Gly139Arg)
|
rs200749358
|
0.00039
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3])
|
rs398123469
|
0.00039
|
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)
|
rs141721605
|
0.00039
|
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)
|
rs146157131
|
0.00039
|
NM_001039213.4(CEACAM16):c.869C>T (p.Thr290Met)
|
rs61729706
|
0.00039
|
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=)
|
rs147904037
|
0.00039
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=)
|
rs143594020
|
0.00039
|
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=)
|
rs141912603
|
0.00039
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00039
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00039
|
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)
|
rs185913848
|
0.00039
|
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)
|
rs367622770
|
0.00039
|
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
0.00039
|
NM_001558.4(IL10RA):c.1260G>A (p.Ser420=)
|
rs199604463
|
0.00039
|
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His)
|
rs142328549
|
0.00039
|
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His)
|
rs141830060
|
0.00039
|
NM_001853.4(COL9A3):c.1602C>T (p.Ser534=)
|
rs146578812
|
0.00039
|
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)
|
rs151249006
|
0.00039
|
NM_002098.6(GUCA1B):c.476-3C>T
|
rs200457582
|
0.00039
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_002381.5(MATN3):c.330C>T (p.Ile110=)
|
rs201755444
|
0.00039
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_003049.4(SLC10A1):c.994G>C (p.Gly332Arg)
|
rs201537069
|
0.00039
|
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)
|
rs144848376
|
0.00039
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)
|
rs78365682
|
0.00039
|
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=)
|
rs150219857
|
0.00039
|
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg)
|
rs2270668
|
0.00039
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_005120.3(MED12):c.381G>A (p.Thr127=)
|
rs202125318
|
0.00039
|
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln)
|
rs147286334
|
0.00039
|
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)
|
rs139654605
|
0.00039
|
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=)
|
rs147617265
|
0.00039
|
NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=)
|
rs144851263
|
0.00039
|
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr)
|
rs183061595
|
0.00039
|
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu)
|
rs201801114
|
0.00039
|
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg)
|
rs201071071
|
0.00039
|
NM_018668.5(VPS33B):c.1207T>C (p.Leu403=)
|
rs139655526
|
0.00039
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)
|
rs140311741
|
0.00039
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
NM_032119.4(ADGRV1):c.357+8C>T
|
rs376004946
|
0.00039
|
NM_058246.4(DNAJB6):c.831T>G (p.Ser277=)
|
rs369098407
|
0.00039
|
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)
|
rs147051900
|
0.00039
|
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met)
|
rs374606481
|
0.00039
|
NM_139125.4(MASP1):c.1143T>C (p.Ser381=)
|
rs141985299
|
0.00039
|
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg)
|
rs148114532
|
0.00039
|
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)
|
rs111511993
|
0.00039
|
NM_182961.4(SYNE1):c.19692+3G>A
|
rs150304757
|
0.00039
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)
|
rs199626372
|
0.00038
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
NM_000209.4(PDX1):c.336C>G (p.Pro112=)
|
rs149275902
|
0.00038
|
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)
|
rs370338674
|
0.00038
|
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys)
|
rs144967259
|
0.00038
|
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser)
|
rs145107955
|
0.00038
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_000493.4(COL10A1):c.1927G>A (p.Asp643Asn)
|
rs201121404
|
0.00038
|
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
|
rs145012038
|
0.00038
|
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp)
|
rs138943074
|
0.00038
|
NM_001081.4(CUBN):c.9236+8A>G
|
rs372673718
|
0.00038
|
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp)
|
rs200283315
|
0.00038
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
NM_001164508.2(NEB):c.4299+7A>G
|
rs373926259
|
0.00038
|
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)
|
rs144691638
|
0.00038
|
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=)
|
rs192122222
|
0.00038
|
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)
|
rs201374999
|
0.00038
|
NM_001267550.2(TTN):c.180T>C (p.Asp60=)
|
rs144750850
|
0.00038
|
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)
|
rs199525540
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_001360.3(DHCR7):c.582C>T (p.Phe194=)
|
rs150603941
|
0.00038
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001701.4(BAAT):c.403C>G (p.Pro135Ala)
|
rs138613717
|
0.00038
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
0.00038
|
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp)
|
rs9282830
|
0.00038
|
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=)
|
rs146655918
|
0.00038
|
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu)
|
rs147706410
|
0.00038
|
NM_003640.5(ELP1):c.2217A>G (p.Lys739=)
|
rs139583037
|
0.00038
|
NM_004006.3(DMD):c.5181A>T (p.Ile1727=)
|
rs200887855
|
0.00038
|
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=)
|
rs189772397
|
0.00038
|
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu)
|
rs142008620
|
0.00038
|
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val)
|
rs200475391
|
0.00038
|
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=)
|
rs145062338
|
0.00038
|
NM_005045.4(RELN):c.5136G>A (p.Thr1712=)
|
rs147933593
|
0.00038
|
NM_005476.7(GNE):c.2004C>T (p.Ser668=)
|
rs150045137
|
0.00038
|
NM_006907.4(PYCR1):c.540C>T (p.Tyr180=)
|
rs150914837
|
0.00038
|
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg)
|
rs139531639
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_015965.7(NDUFA13):c.45C>A (p.Gly15=)
|
rs183288709
|
0.00038
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)
|
rs533729683
|
0.00038
|
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)
|
rs149711133
|
0.00038
|
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)
|
rs141016088
|
0.00038
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)
|
rs202106463
|
0.00038
|
NM_058246.4(DNAJB6):c.48C>T (p.Pro16=)
|
rs150583876
|
0.00038
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)
|
rs141202420
|
0.00038
|
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=)
|
rs367688739
|
0.00038
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=)
|
rs150351766
|
0.00037
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
NM_001083962.2(TCF4):c.504A>G (p.Val168=)
|
rs370160994
|
0.00037
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)
|
rs148055736
|
0.00037
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys)
|
rs199761901
|
0.00037
|
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)
|
rs189914793
|
0.00037
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
NM_002427.4(MMP13):c.438C>T (p.Ser146=)
|
rs17860530
|
0.00037
|
NM_002529.4(NTRK1):c.*6C>T
|
rs370807813
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn)
|
rs114804083
|
0.00037
|
NM_004369.4(COL6A3):c.5839-3C>T
|
rs112825341
|
0.00037
|
NM_006059.4(LAMC3):c.1019G>A (p.Arg340Gln)
|
rs149004188
|
0.00037
|
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)
|
rs75746974
|
0.00037
|
NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile)
|
rs61756250
|
0.00037
|
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)
|
rs375251871
|
0.00037
|
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys)
|
rs118010078
|
0.00037
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00037
|
NM_025114.4(CEP290):c.943-8A>T
|
rs200729812
|
0.00037
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)
|
rs538589589
|
0.00037
|
NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr)
|
rs201688261
|
0.00037
|
NM_213599.3(ANO5):c.720G>T (p.Leu240=)
|
rs147121216
|
0.00037
|
NM_000141.5(FGFR2):c.1788G>A (p.Glu596=)
|
rs56335660
|
0.00036
|
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser)
|
rs146080119
|
0.00036
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000287.4(PEX6):c.-2C>G
|
rs376675730
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)
|
rs145728297
|
0.00036
|
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=)
|
rs149071335
|
0.00036
|
NM_000492.4(CFTR):c.1766+73T>G
|
rs397508299
|
0.00036
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00036
|
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)
|
rs188888939
|
0.00036
|
NM_001083962.2(TCF4):c.790-9T>C
|
rs373434281
|
0.00036
|
NM_001130987.2(DYSF):c.3086-9C>T
|
rs185350547
|
0.00036
|
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)
|
rs145412880
|
0.00036
|
NM_001145308.5(LRTOMT):c.695C>T (p.Ala232Val)
|
rs540371915
|
0.00036
|
NM_001145809.2(MYH14):c.1115-4C>T
|
rs142696359
|
0.00036
|
NM_001163809.2(WDR81):c.2266C>T (p.Arg756Trp)
|
rs536486423
|
0.00036
|
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu)
|
rs199879706
|
0.00036
|
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)
|
rs201604061
|
0.00036
|
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly)
|
rs148631577
|
0.00036
|
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)
|
rs190421400
|
0.00036
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)
|
rs141386891
|
0.00036
|
NM_001378414.1(HDAC4):c.2190G>A (p.Thr730=)
|
rs149067286
|
0.00036
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val)
|
rs140461295
|
0.00036
|
NM_002025.4(AFF2):c.2780G>A (p.Arg927His)
|
rs140927355
|
0.00036
|
NM_002335.4(LRP5):c.144C>T (p.Ala48=)
|
rs776920568
|
0.00036
|
NM_002693.3(POLG):c.131A>G (p.Gln44Arg)
|
rs757120802
|
0.00036
|
NM_002857.4(PEX19):c.402T>C (p.Ser134=)
|
rs139828188
|
0.00036
|
NM_003282.4(TNNI2):c.54G>C (p.Leu18=)
|
rs181679318
|
0.00036
|
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=)
|
rs374418866
|
0.00036
|
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)
|
rs201881755
|
0.00036
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=)
|
rs143350315
|
0.00036
|
NM_005476.7(GNE):c.1509C>G (p.Pro503=)
|
rs141172610
|
0.00036
|
NM_005477.3(HCN4):c.2181C>T (p.His727=)
|
rs140354126
|
0.00036
|
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn)
|
rs201526436
|
0.00036
|
NM_006516.4(SLC2A1):c.498C>T (p.Val166=)
|
rs150971143
|
0.00036
|
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=)
|
rs143360102
|
0.00036
|
NM_006946.4(SPTBN2):c.1719C>T (p.His573=)
|
rs148207416
|
0.00036
|
NM_012463.4(ATP6V0A2):c.522-9G>A
|
rs189175284
|
0.00036
|
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=)
|
rs144556973
|
0.00036
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
NM_017534.6(MYH2):c.3000G>A (p.Lys1000=)
|
rs573063758
|
0.00036
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
NM_018451.5(CPAP):c.1513G>A (p.Glu505Lys)
|
rs145679691
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys)
|
rs75262191
|
0.00036
|
NM_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00036
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00036
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=)
|
rs377369857
|
0.00036
|
NM_030973.4(MED25):c.135-6T>G
|
rs199743509
|
0.00036
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)
|
rs376636949
|
0.00036
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val)
|
rs144447862
|
0.00036
|
NM_033028.5(BBS4):c.1140G>A (p.Val380=)
|
rs141511580
|
0.00036
|
NM_133379.5(TTN):c.10646G>A (p.Arg3549His)
|
rs148115514
|
0.00036
|
NM_133433.4(NIPBL):c.198C>G (p.Val66=)
|
rs146033170
|
0.00036
|
NM_138694.4(PKHD1):c.333C>T (p.Phe111=)
|
rs145815264
|
0.00036
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00036
|
NM_182961.4(SYNE1):c.15657+5T>A
|
rs199779021
|
0.00036
|
NM_194248.3(OTOF):c.5292-9C>T
|
rs372713647
|
0.00036
|
NM_201384.3(PLEC):c.5673C>T (p.Ile1891=)
|
rs191863619
|
0.00036
|
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=)
|
rs368326361
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000208.4(INSR):c.151G>A (p.Glu51Lys)
|
rs140852238
|
0.00035
|
NM_000260.4(MYO7A):c.849+7C>G
|
rs370740228
|
0.00035
|
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=)
|
rs138611390
|
0.00035
|
NM_000381.4(MID1):c.1561C>T (p.Arg521Cys)
|
rs149482288
|
0.00035
|
NM_000444.6(PHEX):c.2214G>A (p.Thr738=)
|
rs140742016
|
0.00035
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly)
|
rs138018739
|
0.00035
|
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=)
|
rs757294519
|
0.00035
|
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
|
rs373946758
|
0.00035
|
NM_001184880.2(PCDH19):c.2617-7A>G
|
rs370859689
|
0.00035
|
NM_001193315.2(VIPAS39):c.558A>G (p.Glu186=)
|
rs148623263
|
0.00035
|
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys)
|
rs149006687
|
0.00035
|
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=)
|
rs375408527
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)
|
rs146782397
|
0.00035
|
NM_001291303.3(FAT4):c.5367C>T (p.Ile1789=)
|
rs144922340
|
0.00035
|
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=)
|
rs374452942
|
0.00035
|
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)
|
rs151312595
|
0.00035
|
NM_001365276.2(TNXB):c.2927G>A (p.Arg976His)
|
rs200771983
|
0.00035
|
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)
|
rs144941725
|
0.00035
|
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=)
|
rs371988852
|
0.00035
|
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)
|
rs12246234
|
0.00035
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_002381.5(MATN3):c.792G>A (p.Ala264=)
|
rs201563567
|
0.00035
|
NM_004006.3(DMD):c.1095A>C (p.Gln365His)
|
rs1800266
|
0.00035
|
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro)
|
rs146817002
|
0.00035
|
NM_004006.3(DMD):c.9564-5A>G
|
rs201390145
|
0.00035
|
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=)
|
rs80028865
|
0.00035
|
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp)
|
rs148340413
|
0.00035
|
NM_004656.4(BAP1):c.1035G>C (p.Gly345=)
|
rs369744075
|
0.00035
|
NM_005333.5(HCCS):c.521C>T (p.Ala174Val)
|
rs367601527
|
0.00035
|
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)
|
rs142542453
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=)
|
rs141439475
|
0.00035
|
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)
|
rs374003717
|
0.00035
|
NM_015629.4(PRPF31):c.540G>A (p.Ser180=)
|
rs148941732
|
0.00035
|
NM_017433.5(MYO3A):c.1248A>G (p.Gln416=)
|
rs143749728
|
0.00035
|
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)
|
rs377217445
|
0.00035
|
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser)
|
rs201319489
|
0.00035
|
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)
|
rs147551342
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_022437.3(ABCG8):c.729C>T (p.Leu243=)
|
rs145482605
|
0.00035
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn)
|
rs201327014
|
0.00035
|
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile)
|
rs145057248
|
0.00035
|
NM_144631.6(ZNF513):c.519C>T (p.Ser173=)
|
rs199520071
|
0.00035
|
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=)
|
rs148556501
|
0.00035
|
NM_201384.3(PLEC):c.10716C>T (p.Ile3572=)
|
rs34365303
|
0.00035
|
NM_201525.4(ADGRG1):c.1356G>A (p.Thr452=)
|
rs151020094
|
0.00035
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)
|
rs80358567
|
0.00034
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)
|
rs113022801
|
0.00034
|
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00034
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=)
|
rs188775667
|
0.00034
|
NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val)
|
rs137946207
|
0.00034
|
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)
|
rs192301957
|
0.00034
|
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=)
|
rs62421010
|
0.00034
|
NM_000441.2(SLC26A4):c.1614+7A>G
|
rs199643344
|
0.00034
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)
|
rs140202512
|
0.00034
|
NM_000548.5(TSC2):c.681C>T (p.Cys227=)
|
rs45443205
|
0.00034
|
NM_000660.7(TGFB1):c.887G>A (p.Arg296Gln)
|
rs200164212
|
0.00034
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
NM_001034853.2(RPGR):c.141T>G (p.Ser47=)
|
rs62638631
|
0.00034
|
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys)
|
rs201117318
|
0.00034
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
NM_001110792.2(MECP2):c.978C>T (p.Ile326=)
|
rs61751446
|
0.00034
|
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430
|
0.00034
|
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His)
|
rs147159176
|
0.00034
|
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)
|
rs116122164
|
0.00034
|
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=)
|
rs201625116
|
0.00034
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00034
|
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)
|
rs199512049
|
0.00034
|
NM_001349338.3(FOXP1):c.1762G>A (p.Ala588Thr)
|
rs202173892
|
0.00034
|
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg)
|
rs773925755
|
0.00034
|
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)
|
rs145475623
|
0.00034
|
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)
|
rs373296447
|
0.00034
|
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=)
|
rs369502543
|
0.00034
|
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=)
|
rs115675008
|
0.00034
|
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)
|
rs202132383
|
0.00034
|
NM_002906.4(RDX):c.1345-7T>C
|
rs142161673
|
0.00034
|
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn)
|
rs76275412
|
0.00034
|
NM_003611.3(OFD1):c.276T>C (p.Ser92=)
|
rs201675886
|
0.00034
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
NM_003722.5(TP63):c.678C>T (p.Arg226=)
|
rs61732782
|
0.00034
|
NM_003742.4(ABCB11):c.930C>T (p.Phe310=)
|
rs372382608
|
0.00034
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
0.00034
|
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)
|
rs138145424
|
0.00034
|
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met)
|
rs116238578
|
0.00034
|
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln)
|
rs201328910
|
0.00034
|
NM_004525.3(LRP2):c.2511C>T (p.Ala837=)
|
rs375313914
|
0.00034
|
NM_004551.3(NDUFS3):c.628-7C>T
|
rs11039306
|
0.00034
|
NM_004994.3(MMP9):c.1591C>T (p.Leu531=)
|
rs141884644
|
0.00034
|
NM_005982.4(SIX1):c.402G>A (p.Lys134=)
|
rs151189392
|
0.00034
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_012448.4(STAT5B):c.1569G>A (p.Arg523=)
|
rs143172354
|
0.00034
|
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=)
|
rs146156426
|
0.00034
|
NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser)
|
rs202203523
|
0.00034
|
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)
|
rs200092283
|
0.00034
|
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)
|
rs201649896
|
0.00034
|
NM_014780.5(CUL7):c.2682T>C (p.Ala894=)
|
rs138043979
|
0.00034
|
NM_015102.5(NPHP4):c.2811C>T (p.Ser937=)
|
rs758757125
|
0.00034
|
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)
|
rs201540919
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00034
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
NM_020223.4(FAM20C):c.1152C>T (p.Ile384=)
|
rs373614292
|
0.00034
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
NM_020975.6(RET):c.1158G>A (p.Ala386=)
|
rs373540097
|
0.00034
|
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)
|
rs142462128
|
0.00034
|
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)
|
rs149692177
|
0.00034
|
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser)
|
rs184814386
|
0.00034
|
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu)
|
rs144949902
|
0.00034
|
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg)
|
rs190988309
|
0.00034
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)
|
rs104886164
|
0.00034
|
NM_133379.5(TTN):c.15193C>T (p.Pro5065Ser)
|
rs200953966
|
0.00034
|
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys)
|
rs62179016
|
0.00034
|
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp)
|
rs147904376
|
0.00034
|
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=)
|
rs767239312
|
0.00034
|
NM_153033.5(KCTD7):c.273C>T (p.Ser91=)
|
rs139585796
|
0.00034
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
NM_198525.3(KIF7):c.3021C>T (p.Ile1007=)
|
rs142488318
|
0.00034
|
NM_201384.3(PLEC):c.6162C>T (p.His2054=)
|
rs563719398
|
0.00034
|
NM_201384.3(PLEC):c.8442C>T (p.Gly2814=)
|
rs186703073
|
0.00034
|
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)
|
rs145191532
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
|
rs140609193
|
0.00033
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)
|
rs182074603
|
0.00033
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712
|
0.00033
|
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)
|
rs200201945
|
0.00033
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=)
|
rs149647577
|
0.00033
|
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)
|
rs202234492
|
0.00033
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val)
|
rs114417076
|
0.00033
|
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)
|
rs146195955
|
0.00033
|
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=)
|
rs200831069
|
0.00033
|
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val)
|
rs190664941
|
0.00033
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_004006.3(DMD):c.10836C>T (p.Ser3612=)
|
rs148590546
|
0.00033
|
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=)
|
rs113422196
|
0.00033
|
NM_005045.4(RELN):c.9825C>T (p.Ser3275=)
|
rs149713137
|
0.00033
|
NM_006086.4(TUBB3):c.507C>T (p.Val169=)
|
rs373718068
|
0.00033
|
NM_006302.3(MOGS):c.499A>C (p.Arg167=)
|
rs371747622
|
0.00033
|
NM_006941.4(SOX10):c.753G>A (p.Ser251=)
|
rs376907937
|
0.00033
|
NM_014795.4(ZEB2):c.759C>T (p.Arg253=)
|
rs150853991
|
0.00033
|
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met)
|
rs200684272
|
0.00033
|
NM_015166.4(MLC1):c.598-9C>T
|
rs200463656
|
0.00033
|
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)
|
rs368682932
|
0.00033
|
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)
|
rs146693681
|
0.00033
|
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)
|
rs140724142
|
0.00033
|
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr)
|
rs201033114
|
0.00033
|
NM_022436.3(ABCG5):c.442C>T (p.Leu148=)
|
rs143444046
|
0.00033
|
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr)
|
rs548002506
|
0.00033
|
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)
|
rs111727307
|
0.00033
|
NM_170699.3(GPBAR1):c.562G>A (p.Val188Met)
|
rs199637113
|
0.00033
|
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=)
|
rs372858742
|
0.00033
|
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)
|
rs201916690
|
0.00033
|
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu)
|
rs147879224
|
0.00033
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
NM_000214.3(JAG1):c.2604T>C (p.Ser868=)
|
rs138189639
|
0.00032
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00032
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His)
|
rs145766839
|
0.00032
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00032
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000392.5(ABCC2):c.339G>A (p.Leu113=)
|
rs151304543
|
0.00032
|
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn)
|
rs45476795
|
0.00032
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)
|
rs184769423
|
0.00032
|
NM_001191061.2(SLC25A22):c.413-8G>C
|
rs376015598
|
0.00032
|
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser)
|
rs149495971
|
0.00032
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_001267550.2(TTN):c.72723C>G (p.Val24241=)
|
rs372701206
|
0.00032
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=)
|
rs138313387
|
0.00032
|
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln)
|
rs142603269
|
0.00032
|
NM_001360.3(DHCR7):c.927C>A (p.Gly309=)
|
rs149974099
|
0.00032
|
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=)
|
rs201430964
|
0.00032
|
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp)
|
rs142231389
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His)
|
rs374474061
|
0.00032
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_001848.3(COL6A1):c.666C>T (p.Arg222=)
|
rs372581026
|
0.00032
|
NM_001849.4(COL6A2):c.*4C>T
|
rs370155138
|
0.00032
|
NM_001849.4(COL6A2):c.225G>T (p.Pro75=)
|
rs143678454
|
0.00032
|
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)
|
rs143396225
|
0.00032
|
NM_002473.6(MYH9):c.1491C>T (p.Ile497=)
|
rs146487404
|
0.00032
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00032
|
NM_002693.3(POLG):c.3652C>T (p.Leu1218=)
|
rs146301349
|
0.00032
|
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=)
|
rs183390670
|
0.00032
|
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)
|
rs140138979
|
0.00032
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)
|
rs116283249
|
0.00032
|
NM_004006.3(DMD):c.94-9T>A
|
rs3764764
|
0.00032
|
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln)
|
rs143393049
|
0.00032
|
NM_004595.5(SMS):c.978G>A (p.Ser326=)
|
rs150564614
|
0.00032
|
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg)
|
rs143800157
|
0.00032
|
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
|
rs145061343
|
0.00032
|
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=)
|
rs146624492
|
0.00032
|
NM_014324.6(AMACR):c.247+8C>G
|
rs779779299
|
0.00032
|
NM_014425.5(INVS):c.118C>G (p.Leu40Val)
|
rs148219510
|
0.00032
|
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala)
|
rs146901872
|
0.00032
|
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn)
|
rs199899548
|
0.00032
|
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg)
|
rs200173000
|
0.00032
|
NM_021072.4(HCN1):c.240C>A (p.Gly80=)
|
rs373664268
|
0.00032
|
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met)
|
rs368976749
|
0.00032
|
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=)
|
rs370039255
|
0.00032
|
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys)
|
rs199933282
|
0.00032
|
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=)
|
rs201123766
|
0.00032
|
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
|
rs36111204
|
0.00032
|
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=)
|
rs202066007
|
0.00032
|
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)
|
rs368822172
|
0.00032
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_153033.5(KCTD7):c.387C>T (p.Ala129=)
|
rs140932942
|
0.00032
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00032
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
NM_198239.2(CCN6):c.219A>T (p.Gly73=)
|
rs139375158
|
0.00032
|
NM_198525.3(KIF7):c.516G>A (p.Glu172=)
|
rs199959946
|
0.00032
|
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val)
|
rs398123401
|
0.00032
|
NM_201384.3(PLEC):c.6495G>A (p.Ala2165=)
|
rs201462310
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)
|
rs138867099
|
0.00031
|
NM_000088.4(COL1A1):c.1002+10G>T
|
rs368316440
|
0.00031
|
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu)
|
rs150452037
|
0.00031
|
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=)
|
rs148136213
|
0.00031
|
NM_000214.3(JAG1):c.82G>C (p.Val28Leu)
|
rs142855305
|
0.00031
|
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)
|
rs183487020
|
0.00031
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly)
|
rs149984626
|
0.00031
|
NM_000540.3(RYR1):c.8616+7G>A
|
rs200023171
|
0.00031
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=)
|
rs202194703
|
0.00031
|
NM_000780.4(CYP7A1):c.1059G>A (p.Ser353=)
|
rs144531506
|
0.00031
|
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=)
|
rs77053118
|
0.00031
|
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=)
|
rs373050209
|
0.00031
|
NM_001039213.4(CEACAM16):c.589G>A (p.Gly197Ser)
|
rs367891074
|
0.00031
|
NM_001077365.2(POMT1):c.855+6T>C
|
rs200692465
|
0.00031
|
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr)
|
rs148615988
|
0.00031
|
NM_001110219.3(GJB6):c.177A>G (p.Gly59=)
|
rs371123633
|
0.00031
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)
|
rs34061568
|
0.00031
|
NM_001161352.2(KCNMA1):c.3148-8T>C
|
rs79155047
|
0.00031
|
NM_001252024.2(TRPM1):c.2701-10T>A
|
rs201747375
|
0.00031
|
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)
|
rs377391143
|
0.00031
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)
|
rs370105333
|
0.00031
|
NM_001267550.2(TTN):c.26019C>T (p.His8673=)
|
rs370266918
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00031
|
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)
|
rs185620750
|
0.00031
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00031
|
NM_001278116.2(L1CAM):c.630C>T (p.His210=)
|
rs28933683
|
0.00031
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln)
|
rs201234047
|
0.00031
|
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=)
|
rs563382903
|
0.00031
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
NM_001848.3(COL6A1):c.531C>T (p.Asn177=)
|
rs767176038
|
0.00031
|
NM_001849.4(COL6A2):c.528G>A (p.Gln176=)
|
rs377585812
|
0.00031
|
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=)
|
rs141047907
|
0.00031
|
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)
|
rs143663917
|
0.00031
|
NM_002335.4(LRP5):c.1818G>A (p.Ala606=)
|
rs148603249
|
0.00031
|
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=)
|
rs374724784
|
0.00031
|
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)
|
rs560217758
|
0.00031
|
NM_003722.5(TP63):c.1827A>G (p.Glu609=)
|
rs147538847
|
0.00031
|
NM_004086.3(COCH):c.272G>A (p.Arg91Gln)
|
rs188283330
|
0.00031
|
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)
|
rs200018416
|
0.00031
|
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp)
|
rs138049094
|
0.00031
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=)
|
rs147537071
|
0.00031
|
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)
|
rs149924028
|
0.00031
|
NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala)
|
rs57728054
|
0.00031
|
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His)
|
rs147890616
|
0.00031
|
NM_006182.4(DDR2):c.720C>T (p.Asp240=)
|
rs141801107
|
0.00031
|
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg)
|
rs142075589
|
0.00031
|
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)
|
rs148065361
|
0.00031
|
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr)
|
rs144078604
|
0.00031
|
NM_014780.5(CUL7):c.3273G>A (p.Ser1091=)
|
rs144269675
|
0.00031
|
NM_015922.3(NSDHL):c.773C>T (p.Ser258Leu)
|
rs373717198
|
0.00031
|
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn)
|
rs142537154
|
0.00031
|
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser)
|
rs150402866
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)
|
rs148018494
|
0.00031
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=)
|
rs371749889
|
0.00031
|
NM_080916.3(DGUOK):c.256-7C>T
|
rs199531052
|
0.00031
|
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)
|
rs142371860
|
0.00031
|
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
|
rs143578863
|
0.00031
|
NM_198525.3(KIF7):c.3665-5G>A
|
rs79532879
|
0.00031
|
NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser)
|
rs189233521
|
0.00031
|
NM_000023.4(SGCA):c.189C>T (p.His63=)
|
rs373770886
|
0.00030
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu)
|
rs201824781
|
0.00030
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00030
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile)
|
rs138558359
|
0.00030
|
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)
|
rs73790880
|
0.00030
|
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
|
rs397516423
|
0.00030
|
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr)
|
rs199960807
|
0.00030
|
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)
|
rs55821172
|
0.00030
|
NM_001048166.1(STIL):c.1005A>G (p.Glu335=)
|
rs149296029
|
0.00030
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00030
|
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)
|
rs16010
|
0.00030
|
NM_001128205.2(SULF1):c.2440G>A (p.Val814Met)
|
rs117639561
|
0.00030
|
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=)
|
rs145143725
|
0.00030
|
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp)
|
rs150911744
|
0.00030
|
NM_001200.4(BMP2):c.891G>A (p.Lys297=)
|
rs147542801
|
0.00030
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00030
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00030
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
|
rs180828370
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)
|
rs199875474
|
0.00030
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
NM_001267550.2(TTN):c.94863C>T (p.His31621=)
|
rs373871146
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_001278116.2(L1CAM):c.1547-4T>A
|
rs200148275
|
0.00030
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226
|
0.00030
|
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=)
|
rs200987019
|
0.00030
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
NM_002334.4(LRP4):c.2815-6T>G
|
rs372210790
|
0.00030
|
NM_003392.7(WNT5A):c.417C>T (p.Tyr139=)
|
rs371576999
|
0.00030
|
NM_004333.6(BRAF):c.2235A>G (p.Leu745=)
|
rs56046546
|
0.00030
|
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)
|
rs116794756
|
0.00030
|
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=)
|
rs140441798
|
0.00030
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)
|
rs371839994
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_014762.4(DHCR24):c.102C>T (p.Phe34=)
|
rs144149165
|
0.00030
|
NM_015102.5(NPHP4):c.909C>T (p.Val303=)
|
rs201488441
|
0.00030
|
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)
|
rs184436336
|
0.00030
|
NM_016356.5(DCDC2):c.478A>C (p.Arg160=)
|
rs201204772
|
0.00030
|
NM_017617.5(NOTCH1):c.1100-8C>T
|
rs545088400
|
0.00030
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_020779.4(WDR35):c.2964+10C>A
|
rs201207790
|
0.00030
|
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)
|
rs139119218
|
0.00030
|
NM_054027.6(ANKH):c.1141+5A>G
|
rs187972211
|
0.00030
|
NM_147127.5(EVC2):c.2304G>C (p.Val768=)
|
rs139936564
|
0.00030
|
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)
|
rs150121030
|
0.00030
|
NM_201384.3(PLEC):c.174+10G>A
|
rs181850748
|
0.00030
|
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln)
|
rs371290504
|
0.00030
|
NM_000214.3(JAG1):c.2043G>A (p.Thr681=)
|
rs151291264
|
0.00029
|
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=)
|
rs36212064
|
0.00029
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
|
rs397516327
|
0.00029
|
NM_000271.5(NPC1):c.3246-8C>T
|
rs145227129
|
0.00029
|
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)
|
rs62635032
|
0.00029
|
NM_000275.3(OCA2):c.37G>A (p.Gly13Ser)
|
rs201554429
|
0.00029
|
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)
|
rs533766104
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_000325.6(PITX2):c.639A>T (p.Ser213=)
|
rs141176394
|
0.00029
|
NM_000337.6(SGCD):c.510G>A (p.Glu170=)
|
rs368838376
|
0.00029
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000443.4(ABCB4):c.2395-3T>C
|
rs377462787
|
0.00029
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000515.5(GH1):c.597C>G (p.Val199=)
|
rs142704768
|
0.00029
|
NM_000523.4(HOXD13):c.135C>T (p.Ser45=)
|
rs757175860
|
0.00029
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00029
|
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)
|
rs200780880
|
0.00029
|
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=)
|
rs149471411
|
0.00029
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00029
|
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)
|
rs77710085
|
0.00029
|
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu)
|
rs147956755
|
0.00029
|
NM_001018113.3(FANCB):c.1371C>T (p.Val457=)
|
rs149695930
|
0.00029
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_001048166.1(STIL):c.152+4T>C
|
rs368201717
|
0.00029
|
NM_001077365.2(POMT1):c.1698+10C>A
|
rs184131819
|
0.00029
|
NM_001077525.3(MTMR14):c.1067C>T (p.Thr356Met)
|
rs183134138
|
0.00029
|
NM_001110556.2(FLNA):c.2023-8C>T
|
rs587780335
|
0.00029
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_001127222.2(CACNA1A):c.5133+10G>A
|
rs369033909
|
0.00029
|
NM_001145809.2(MYH14):c.5452C>T (p.Arg1818Cys)
|
rs377096949
|
0.00029
|
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu)
|
rs140112462
|
0.00029
|
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)
|
rs370873040
|
0.00029
|
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)
|
rs202234374
|
0.00029
|
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)
|
rs200237973
|
0.00029
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr)
|
rs531590921
|
0.00029
|
NM_001267550.2(TTN):c.4645+8G>T
|
rs144456585
|
0.00029
|
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)
|
rs375173874
|
0.00029
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)
|
rs375204371
|
0.00029
|
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)
|
rs377226540
|
0.00029
|
NM_001267550.2(TTN):c.88306+8T>C
|
rs369690199
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001276345.2(TNNT2):c.41+16A>G
|
rs370729174
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)
|
rs143992148
|
0.00029
|
NM_001366722.1(GRIP1):c.1199-7C>G
|
rs200313638
|
0.00029
|
NM_001371333.1(DIABLO):c.50+5C>T
|
rs372776075
|
0.00029
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=)
|
rs187941815
|
0.00029
|
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)
|
rs182369056
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_001848.3(COL6A1):c.1399-3C>T
|
rs200095847
|
0.00029
|
NM_001849.4(COL6A2):c.1522-9C>T
|
rs371576207
|
0.00029
|
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys)
|
rs141825151
|
0.00029
|
NM_001854.4(COL11A1):c.1489-5C>A
|
rs370997745
|
0.00029
|
NM_001966.4(EHHADH):c.6C>G (p.Ala2=)
|
rs141515588
|
0.00029
|
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=)
|
rs147409148
|
0.00029
|
NM_002427.4(MMP13):c.663G>A (p.Ala221=)
|
rs143331971
|
0.00029
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
NM_003322.6(TULP1):c.327C>G (p.Ala109=)
|
rs568898016
|
0.00029
|
NM_003482.4(KMT2D):c.840-6C>T
|
rs182926808
|
0.00029
|
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val)
|
rs118109635
|
0.00029
|
NM_004287.5(GOSR2):c.29+8C>T
|
rs573306680
|
0.00029
|
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=)
|
rs201814201
|
0.00029
|
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)
|
rs150376179
|
0.00029
|
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040
|
0.00029
|
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=)
|
rs149055008
|
0.00029
|
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=)
|
rs371059164
|
0.00029
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
NM_005045.4(RELN):c.5643G>A (p.Leu1881=)
|
rs141387255
|
0.00029
|
NM_005045.4(RELN):c.8843+3A>C
|
rs200124755
|
0.00029
|
NM_005378.6(MYCN):c.710C>T (p.Pro237Leu)
|
rs767711936
|
0.00029
|
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)
|
rs143274889
|
0.00029
|
NM_005802.5(TOPORS):c.2115T>C (p.Thr705=)
|
rs372292364
|
0.00029
|
NM_006005.3(WFS1):c.325C>T (p.His109Tyr)
|
rs112871383
|
0.00029
|
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=)
|
rs145718040
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=)
|
rs150607716
|
0.00029
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00029
|
NM_014795.4(ZEB2):c.2601G>A (p.Lys867=)
|
rs139369265
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=)
|
rs149009269
|
0.00029
|
NM_016729.3(FOLR1):c.157T>C (p.Leu53=)
|
rs143413500
|
0.00029
|
NM_017553.3(INO80):c.1833C>T (p.Phe611=)
|
rs147454171
|
0.00029
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)
|
rs41265246
|
0.00029
|
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)
|
rs202039728
|
0.00029
|
NM_019098.5(CNGB3):c.912C>T (p.Val304=)
|
rs117806701
|
0.00029
|
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=)
|
rs377112179
|
0.00029
|
NM_022042.4(SLC26A1):c.1612C>T (p.Arg538Trp)
|
rs143381873
|
0.00029
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
NM_022464.5(SIL1):c.984C>T (p.Leu328=)
|
rs368666457
|
0.00029
|
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=)
|
rs150657714
|
0.00029
|
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)
|
rs373352597
|
0.00029
|
NM_033641.4(COL4A6):c.726A>C (p.Pro242=)
|
rs149989161
|
0.00029
|
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=)
|
rs368078922
|
0.00029
|
NM_130837.3(OPA1):c.921C>T (p.Asp307=)
|
rs147242797
|
0.00029
|
NM_133379.5(TTN):c.12204C>T (p.Gly4068=)
|
rs144330952
|
0.00029
|
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser)
|
rs72647902
|
0.00029
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00029
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)
|
rs146468152
|
0.00029
|
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)
|
rs184693266
|
0.00029
|
NM_176824.3(BBS7):c.1158A>G (p.Thr386=)
|
rs146617227
|
0.00029
|
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His)
|
rs75665958
|
0.00029
|
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=)
|
rs117423703
|
0.00029
|
NM_182931.3(KMT2E):c.3875C>T (p.Pro1292Leu)
|
rs144839449
|
0.00029
|
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)
|
rs138173087
|
0.00029
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)
|
rs150811468
|
0.00029
|
NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser)
|
rs139823161
|
0.00029
|
NM_201384.3(PLEC):c.1977+7G>A
|
rs184363750
|
0.00029
|
NM_201384.3(PLEC):c.2736C>G (p.Ala912=)
|
rs558031489
|
0.00029
|
NM_201384.3(PLEC):c.3831C>T (p.Asn1277=)
|
rs202217053
|
0.00029
|
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)
|
rs370168097
|
0.00029
|
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)
|
rs367715805
|
0.00029
|
NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys)
|
rs776480483
|
0.00029
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000156.6(GAMT):c.279C>T (p.Asp93=)
|
rs144630886
|
0.00028
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
NM_000255.4(MMUT):c.461G>A (p.Arg154His)
|
rs142068898
|
0.00028
|
NM_000275.3(OCA2):c.45G>A (p.Pro15=)
|
rs202091837
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_000843.4(GRM6):c.1455C>T (p.Gly485=)
|
rs149519053
|
0.00028
|
NM_001005361.3(DNM2):c.645C>T (p.Asp215=)
|
rs148900299
|
0.00028
|
NM_001025295.3(IFITM5):c.41C>T (p.Thr14Met)
|
rs200046984
|
0.00028
|
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=)
|
rs368119524
|
0.00028
|
NM_001102564.3(IFT43):c.296-5600G>C
|
rs189153179
|
0.00028
|
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=)
|
rs371501734
|
0.00028
|
NM_001110792.2(MECP2):c.813C>T (p.Ala271=)
|
rs1042870
|
0.00028
|
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=)
|
rs781805662
|
0.00028
|
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=)
|
rs190024862
|
0.00028
|
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)
|
rs34654141
|
0.00028
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=)
|
rs372058698
|
0.00028
|
NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=)
|
rs188900504
|
0.00028
|
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys)
|
rs201766106
|
0.00028
|
NM_001193315.2(VIPAS39):c.504+9A>G
|
rs371762531
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)
|
rs373223049
|
0.00028
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)
|
rs202200861
|
0.00028
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
NM_001267550.2(TTN):c.75762G>T (p.Val25254=)
|
rs374003257
|
0.00028
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=)
|
rs142563956
|
0.00028
|
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=)
|
rs200638763
|
0.00028
|
NM_001291867.2(NHS):c.513C>T (p.Leu171=)
|
rs398124610
|
0.00028
|
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr)
|
rs144011305
|
0.00028
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
0.00028
|
NM_002437.5(MPV17):c.156G>A (p.Leu52=)
|
rs142493907
|
0.00028
|
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)
|
rs114144694
|
0.00028
|
NM_005378.6(MYCN):c.658G>T (p.Ala220Ser)
|
rs745414155
|
0.00028
|
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)
|
rs369899077
|
0.00028
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys)
|
rs143560718
|
0.00028
|
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp)
|
rs151094883
|
0.00028
|
NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly)
|
rs766856664
|
0.00028
|
NM_015102.5(NPHP4):c.138C>T (p.Gly46=)
|
rs201069164
|
0.00028
|
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)
|
rs199925943
|
0.00028
|
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu)
|
rs772776336
|
0.00028
|
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)
|
rs376881824
|
0.00028
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)
|
rs138114609
|
0.00028
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=)
|
rs187667255
|
0.00028
|
NM_144997.7(FLCN):c.1149C>T (p.Leu383=)
|
rs150752548
|
0.00028
|
NM_170707.4(LMNA):c.192C>T (p.Thr64=)
|
rs137969290
|
0.00028
|
NM_201384.3(PLEC):c.11036C>T (p.Ala3679Val)
|
rs200060757
|
0.00028
|
NM_207346.3(TSEN54):c.984T>C (p.Ala328=)
|
rs776960594
|
0.00028
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000106.5(CYP2D6):c.971A>C (p.His324Pro)
|
rs5030867
|
0.00027
|
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)
|
rs199875457
|
0.00027
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
NM_000388.4(CASR):c.1110G>A (p.Val370=)
|
rs150412204
|
0.00027
|
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)
|
rs371394487
|
0.00027
|
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=)
|
rs142646795
|
0.00027
|
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)
|
rs149101812
|
0.00027
|
NM_001127649.3(PEX26):c.318C>G (p.Val106=)
|
rs142072315
|
0.00027
|
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)
|
rs200424400
|
0.00027
|
NM_001199799.2(ILDR1):c.1377C>T (p.His459=)
|
rs201105694
|
0.00027
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
NM_001267550.2(TTN):c.33172+4G>A
|
rs756475184
|
0.00027
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
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_001360.3(DHCR7):c.139C>T (p.Leu47=)
|
rs140721259
|
0.00027
|
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile)
|
rs138338096
|
0.00027
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
NM_001384732.1(CPLANE1):c.3381G>C (p.Ser1127=)
|
rs566190241
|
0.00027
|
NM_003611.3(OFD1):c.54A>G (p.Glu18=)
|
rs147114577
|
0.00027
|
NM_004006.3(DMD):c.9804A>G (p.Gln3268=)
|
rs12690372
|
0.00027
|
NM_004369.4(COL6A3):c.7029+10C>T
|
rs376525317
|
0.00027
|
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=)
|
rs114199044
|
0.00027
|
NM_005559.4(LAMA1):c.6845T>C (p.Ile2282Thr)
|
rs146148365
|
0.00027
|
NM_006432.5(NPC2):c.450T>C (p.His150=)
|
rs374489111
|
0.00027
|
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)
|
rs147958141
|
0.00027
|
NM_013382.7(POMT2):c.66C>T (p.Gly22=)
|
rs200670377
|
0.00027
|
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala)
|
rs144127577
|
0.00027
|
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys)
|
rs149690383
|
0.00027
|
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)
|
rs201388841
|
0.00027
|
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val)
|
rs199510686
|
0.00027
|
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val)
|
rs143396390
|
0.00027
|
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu)
|
rs199792315
|
0.00027
|
NM_032119.4(ADGRV1):c.3022+8T>C
|
rs375286987
|
0.00027
|
NM_032322.4(RNF135):c.1009G>A (p.Asp337Asn)
|
rs148682566
|
0.00027
|
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg)
|
rs142929745
|
0.00027
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_144672.4(OTOA):c.921G>A (p.Ala307=)
|
rs12051473
|
0.00027
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=)
|
rs188913729
|
0.00027
|
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=)
|
rs149566576
|
0.00027
|
NM_201384.3(PLEC):c.10499G>A (p.Arg3500His)
|
rs201387815
|
0.00027
|
NM_201384.3(PLEC):c.5487C>T (p.Ala1829=)
|
rs781998103
|
0.00027
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000059.4(BRCA2):c.516+14C>T
|
rs182828913
|
0.00026
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)
|
rs200044988
|
0.00026
|
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)
|
rs147920229
|
0.00026
|
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000218.3(KCNQ1):c.386+14C>T
|
rs370023636
|
0.00026
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00026
|
NM_000287.4(PEX6):c.1884+3G>A
|
rs377041406
|
0.00026
|
NM_000287.4(PEX6):c.306G>T (p.Ala102=)
|
rs727504083
|
0.00026
|
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)
|
rs199473331
|
0.00026
|
NM_000388.4(CASR):c.885C>T (p.Ala295=)
|
rs147307274
|
0.00026
|
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His)
|
rs144521346
|
0.00026
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)
|
rs146304983
|
0.00026
|
NM_000478.6(ALPL):c.1002C>T (p.Gly334=)
|
rs370122334
|
0.00026
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp)
|
rs149565907
|
0.00026
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)
|
rs138902646
|
0.00026
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=)
|
rs376909665
|
0.00026
|
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)
|
rs150093305
|
0.00026
|
NM_001130987.2(DYSF):c.2217-11G>A
|
rs200853014
|
0.00026
|
NM_001136193.2(FASTKD2):c.882-3C>T
|
rs41272661
|
0.00026
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=)
|
rs377697825
|
0.00026
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys)
|
rs200684841
|
0.00026
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)
|
rs201298767
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)
|
rs377042940
|
0.00026
|
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)
|
rs199557654
|
0.00026
|
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)
|
rs149910892
|
0.00026
|
NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala)
|
rs370498307
|
0.00026
|
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)
|
rs368781863
|
0.00026
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)
|
rs367603302
|
0.00026
|
NM_001267550.2(TTN):c.57263-4C>T
|
rs373552048
|
0.00026
|
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)
|
rs201662134
|
0.00026
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)
|
rs56052239
|
0.00026
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)
|
rs371884545
|
0.00026
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00026
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)
|
rs201400267
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)
|
rs182683829
|
0.00026
|
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)
|
rs374081262
|
0.00026
|
NM_001291303.3(FAT4):c.11040G>A (p.Thr3680=)
|
rs147998041
|
0.00026
|
NM_001292063.2(OTOG):c.2385G>T (p.Gly795=)
|
rs564595203
|
0.00026
|
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=)
|
rs185667241
|
0.00026
|
NM_001367624.2(ZNF469):c.7981G>A (p.Gly2661Ser)
|
rs138259179
|
0.00026
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu)
|
rs148367422
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)
|
rs369682692
|
0.00026
|
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)
|
rs190694237
|
0.00026
|
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)
|
rs200306249
|
0.00026
|
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser)
|
rs144547088
|
0.00026
|
NM_001844.5(COL2A1):c.2680-9C>T
|
rs369022247
|
0.00026
|
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=)
|
rs143755280
|
0.00026
|
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)
|
rs141605607
|
0.00026
|
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)
|
rs113002150
|
0.00026
|
NM_001849.4(COL6A2):c.84G>A (p.Pro28=)
|
rs140890046
|
0.00026
|
NM_001966.4(EHHADH):c.1013A>G (p.Lys338Arg)
|
rs141210101
|
0.00026
|
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=)
|
rs149736203
|
0.00026
|
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu)
|
rs200624778
|
0.00026
|
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)
|
rs145972303
|
0.00026
|
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
|
rs201787206
|
0.00026
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
NM_003049.4(SLC10A1):c.573G>C (p.Gly191=)
|
rs200693940
|
0.00026
|
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)
|
rs201341211
|
0.00026
|
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=)
|
rs370000816
|
0.00026
|
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)
|
rs199768095
|
0.00026
|
NM_004260.4(RECQL4):c.1872C>T (p.Val624=)
|
rs201815449
|
0.00026
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=)
|
rs115893145
|
0.00026
|
NM_004369.4(COL6A3):c.4900+9C>T
|
rs117345850
|
0.00026
|
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)
|
rs148821986
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln)
|
rs374078257
|
0.00026
|
NM_004813.4(PEX16):c.887+9C>A
|
rs370590743
|
0.00026
|
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser)
|
rs115577014
|
0.00026
|
NM_005422.4(TECTA):c.327C>T (p.Gly109=)
|
rs727504830
|
0.00026
|
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile)
|
rs202199158
|
0.00026
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)
|
rs375217032
|
0.00026
|
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=)
|
rs375734152
|
0.00026
|
NM_014425.5(INVS):c.2664T>C (p.Ser888=)
|
rs1052867
|
0.00026
|
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser)
|
rs143854197
|
0.00026
|
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala)
|
rs140593583
|
0.00026
|
NM_015047.3(EMC1):c.2712dup (p.His905fs)
|
rs781137936
|
0.00026
|
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=)
|
rs199912631
|
0.00026
|
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=)
|
rs150804955
|
0.00026
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=)
|
rs201893489
|
0.00026
|
NM_015404.4(WHRN):c.2237-10C>G
|
rs200131193
|
0.00026
|
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=)
|
rs185980830
|
0.00026
|
NM_017739.4(POMGNT1):c.1284+9G>C
|
rs565797493
|
0.00026
|
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=)
|
rs142424896
|
0.00026
|
NM_022437.3(ABCG8):c.888G>T (p.Ala296=)
|
rs143182625
|
0.00026
|
NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln)
|
rs377070695
|
0.00026
|
NM_025265.4(TSEN2):c.309G>A (p.Arg103=)
|
rs148549222
|
0.00026
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val)
|
rs200584854
|
0.00026
|
NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln)
|
rs368078459
|
0.00026
|
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=)
|
rs371347218
|
0.00026
|
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)
|
rs149427926
|
0.00026
|
NM_138927.4(SON):c.2659G>A (p.Ala887Thr)
|
rs370344763
|
0.00026
|
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu)
|
rs189895472
|
0.00026
|
NM_153240.5(NPHP3):c.118C>T (p.Leu40=)
|
rs374281831
|
0.00026
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_153240.5(NPHP3):c.408G>A (p.Thr136=)
|
rs141410951
|
0.00026
|
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=)
|
rs140118684
|
0.00026
|
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)
|
rs201069314
|
0.00026
|
NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr)
|
rs200924154
|
0.00026
|
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met)
|
rs191036710
|
0.00026
|
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp)
|
rs202241157
|
0.00026
|
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)
|
rs201030020
|
0.00026
|
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=)
|
rs41286130
|
0.00026
|
NM_207361.6(FREM2):c.9009C>T (p.Val3003=)
|
rs145657148
|
0.00026
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_000057.4(BLM):c.2838A>G (p.Thr946=)
|
rs200850440
|
0.00025
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)
|
rs76784312
|
0.00025
|
NM_000124.4(ERCC6):c.438C>T (p.Ser146=)
|
rs138756386
|
0.00025
|
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)
|
rs150935953
|
0.00025
|
NM_000186.4(CFH):c.3133+4C>G
|
rs374729595
|
0.00025
|
NM_000208.4(INSR):c.1179G>A (p.Gly393=)
|
rs140573575
|
0.00025
|
NM_000232.5(SGCB):c.495C>T (p.Asp165=)
|
rs142801720
|
0.00025
|
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)
|
rs116214830
|
0.00025
|
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys)
|
rs574725520
|
0.00025
|
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)
|
rs142163063
|
0.00025
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)
|
rs141633456
|
0.00025
|
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)
|
rs370576211
|
0.00025
|
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)
|
rs150628823
|
0.00025
|
NM_001024630.4(RUNX2):c.531C>G (p.Asn177Lys)
|
rs147359883
|
0.00025
|
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)
|
rs139515659
|
0.00025
|
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=)
|
rs146097023
|
0.00025
|
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp)
|
rs140590144
|
0.00025
|
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met)
|
rs199796249
|
0.00025
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=)
|
rs528832388
|
0.00025
|
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)
|
rs371031259
|
0.00025
|
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)
|
rs148434577
|
0.00025
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00025
|
NM_001429.4(EP300):c.5172C>A (p.Thr1724=)
|
rs142330184
|
0.00025
|
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=)
|
rs140427635
|
0.00025
|
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)
|
rs145698301
|
0.00025
|
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
|
rs147800688
|
0.00025
|
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr)
|
rs200306870
|
0.00025
|
NM_002473.6(MYH9):c.1479G>A (p.Gln493=)
|
rs376262583
|
0.00025
|
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)
|
rs34292387
|
0.00025
|
NM_003193.5(TBCE):c.708T>G (p.Leu236=)
|
rs141498084
|
0.00025
|
NM_003282.4(TNNI2):c.102G>A (p.Glu34=)
|
rs143863270
|
0.00025
|
NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=)
|
rs373414243
|
0.00025
|
NM_003482.4(KMT2D):c.3906+20C>T
|
rs375504464
|
0.00025
|
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)
|
rs200739891
|
0.00025
|
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=)
|
rs138254005
|
0.00025
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=)
|
rs368800027
|
0.00025
|
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)
|
rs552651651
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=)
|
rs370351101
|
0.00025
|
NM_012193.4(FZD4):c.118G>C (p.Glu40Gln)
|
rs139401671
|
0.00025
|
NM_014780.5(CUL7):c.2802C>A (p.Leu934=)
|
rs144926293
|
0.00025
|
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=)
|
rs201180901
|
0.00025
|
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)
|
rs201903713
|
0.00025
|
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)
|
rs186448979
|
0.00025
|
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
|
rs111033493
|
0.00025
|
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)
|
rs199984328
|
0.00025
|
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=)
|
rs143159630
|
0.00025
|
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val)
|
rs142574684
|
0.00025
|
NM_032119.4(ADGRV1):c.5578G>A (p.Ala1860Thr)
|
rs369603835
|
0.00025
|
NM_032575.3(GLIS2):c.693C>T (p.Asn231=)
|
rs150071733
|
0.00025
|
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val)
|
rs72647901
|
0.00025
|
NM_138694.4(PKHD1):c.130+9G>A
|
rs367608402
|
0.00025
|
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)
|
rs199621305
|
0.00025
|
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala)
|
rs144540943
|
0.00025
|
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)
|
rs201483764
|
0.00025
|
NM_153252.5(BRWD3):c.4377A>G (p.Leu1459=)
|
rs138240307
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val)
|
rs147173048
|
0.00025
|
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe)
|
rs140135976
|
0.00025
|
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu)
|
rs150132765
|
0.00025
|
NM_201384.3(PLEC):c.13209G>A (p.Pro4403=)
|
rs200338374
|
0.00025
|
NM_201384.3(PLEC):c.2541C>T (p.Ser847=)
|
rs374688294
|
0.00025
|
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp)
|
rs782312793
|
0.00025
|
NM_201548.5(CERKL):c.60G>A (p.Glu20=)
|
rs556744419
|
0.00025
|
NM_207122.2(EXT2):c.1645C>T (p.Leu549=)
|
rs142565472
|
0.00025
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
NM_000026.4(ADSL):c.649C>G (p.His217Asp)
|
rs199761158
|
0.00024
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000098.3(CPT2):c.1422C>A (p.Ala474=)
|
rs192779168
|
0.00024
|
NM_000106.5(CYP2D6):c.124G>A (p.Gly42Arg)
|
rs5030862
|
0.00024
|
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp)
|
rs75652750
|
0.00024
|
NM_000214.3(JAG1):c.399G>A (p.Thr133=)
|
rs763154396
|
0.00024
|
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=)
|
rs143697410
|
0.00024
|
NM_000235.4(LIPA):c.396C>G (p.Leu132=)
|
rs201603238
|
0.00024
|
NM_000245.4(MET):c.1932C>T (p.His644=)
|
rs45520237
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_000304.4(PMP22):c.320-4C>T
|
rs377467465
|
0.00024
|
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala)
|
rs140680467
|
0.00024
|
NM_000392.5(ABCC2):c.469-9T>C
|
rs147614414
|
0.00024
|
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=)
|
rs1057495486
|
0.00024
|
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe)
|
rs199553519
|
0.00024
|
NM_000452.3(SLC10A2):c.561C>G (p.Pro187=)
|
rs139517943
|
0.00024
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)
|
rs142180002
|
0.00024
|
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=)
|
rs149286529
|
0.00024
|
NM_000883.4(IMPDH1):c.624C>G (p.Pro208=)
|
rs758909916
|
0.00024
|
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
rs201419367
|
0.00024
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=)
|
rs374690853
|
0.00024
|
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met)
|
rs376029542
|
0.00024
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
NM_001193315.2(VIPAS39):c.1071C>T (p.Asn357=)
|
rs138544284
|
0.00024
|
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg)
|
rs77585883
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)
|
rs151193056
|
0.00024
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)
|
rs75948012
|
0.00024
|
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)
|
rs199788826
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys)
|
rs202187398
|
0.00024
|
NM_001277115.2(DNAH11):c.3853-5C>G
|
rs367628980
|
0.00024
|
NM_001360.3(DHCR7):c.987C>T (p.Pro329=)
|
rs145901607
|
0.00024
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_001378120.1(MBD5):c.69G>A (p.Val23=)
|
rs151204004
|
0.00024
|
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)
|
rs367841700
|
0.00024
|
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=)
|
rs143566075
|
0.00024
|
NM_001458.5(FLNC):c.2733G>A (p.Lys911=)
|
rs374135903
|
0.00024
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=)
|
rs373535692
|
0.00024
|
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)
|
rs148962954
|
0.00024
|
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=)
|
rs150716220
|
0.00024
|
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)
|
rs113017484
|
0.00024
|
NM_002024.6(FMR1):c.420-10A>T
|
rs781827082
|
0.00024
|
NM_002693.3(POLG):c.2149C>T (p.Leu717=)
|
rs779515404
|
0.00024
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_002693.3(POLG):c.2541C>T (p.Ala847=)
|
rs143810171
|
0.00024
|
NM_002693.3(POLG):c.3482+7G>A
|
rs200309191
|
0.00024
|
NM_003680.4(YARS1):c.510+10G>C
|
rs201272488
|
0.00024
|
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)
|
rs200148505
|
0.00024
|
NM_003742.4(ABCB11):c.477A>G (p.Gln159=)
|
rs191042013
|
0.00024
|
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)
|
rs200124902
|
0.00024
|
NM_004006.3(DMD):c.6052C>A (p.Leu2018Ile)
|
rs367702968
|
0.00024
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_004333.6(BRAF):c.-5A>G
|
rs71645936
|
0.00024
|
NM_004560.4(ROR2):c.1671G>A (p.Ser557=)
|
rs201232887
|
0.00024
|
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu)
|
rs199892018
|
0.00024
|
NM_004863.4(SPTLC2):c.851-5T>C
|
rs199867946
|
0.00024
|
NM_005045.4(RELN):c.4872A>G (p.Gln1624=)
|
rs149121159
|
0.00024
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=)
|
rs147528917
|
0.00024
|
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met)
|
rs201070853
|
0.00024
|
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=)
|
rs145492863
|
0.00024
|
NM_012301.4(MAGI2):c.411G>A (p.Thr137=)
|
rs149568072
|
0.00024
|
NM_012418.4(FSCN2):c.867C>T (p.His289=)
|
rs368687488
|
0.00024
|
NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)
|
rs138094550
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_015311.3(OBSL1):c.423G>A (p.Arg141=)
|
rs79796143
|
0.00024
|
NM_015335.5(MED13L):c.5732-3C>T
|
rs370245982
|
0.00024
|
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu)
|
rs41289850
|
0.00024
|
NM_015404.4(WHRN):c.1608C>G (p.Thr536=)
|
rs139337135
|
0.00024
|
NM_015443.4(KANSL1):c.2725-7A>G
|
rs186818985
|
0.00024
|
NM_017739.4(POMGNT1):c.1786-6C>T
|
rs202028128
|
0.00024
|
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)
|
rs145194882
|
0.00024
|
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=)
|
rs201927115
|
0.00024
|
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=)
|
rs377253172
|
0.00024
|
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=)
|
rs145993678
|
0.00024
|
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp)
|
rs143571876
|
0.00024
|
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=)
|
rs149577148
|
0.00024
|
NM_032119.4(ADGRV1):c.10322G>C (p.Gly3441Ala)
|
rs200464486
|
0.00024
|
NM_080680.3(COL11A2):c.1819-10G>A
|
rs3129202
|
0.00024
|
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp)
|
rs149071920
|
0.00024
|
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=)
|
rs372110441
|
0.00024
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
|
rs372150992
|
0.00024
|
NM_171998.4(RAB39B):c.543A>G (p.Thr181=)
|
rs369970931
|
0.00024
|
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)
|
rs151081036
|
0.00024
|
NM_182961.4(SYNE1):c.12225+4G>A
|
rs770448083
|
0.00024
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)
|
rs759030267
|
0.00024
|
NM_201384.3(PLEC):c.5149C>T (p.Arg1717Trp)
|
rs192022872
|
0.00024
|
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val)
|
rs370003608
|
0.00024
|
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)
|
rs200949691
|
0.00024
|
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)
|
rs782628755
|
0.00023
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
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_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00023
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_000382.3(ALDH3A2):c.1108-3C>T
|
rs148944691
|
0.00023
|
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys)
|
rs151009169
|
0.00023
|
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=)
|
rs148659669
|
0.00023
|
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=)
|
rs143592561
|
0.00023
|
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg)
|
rs372134073
|
0.00023
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)
|
rs200524526
|
0.00023
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_001164508.2(NEB):c.2343G>A (p.Lys781=)
|
rs191610670
|
0.00023
|
NM_001193315.2(VIPAS39):c.171C>G (p.Val57=)
|
rs144120903
|
0.00023
|
NM_001206979.2(NR1H4):c.438G>A (p.Gly146=)
|
rs137946171
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln)
|
rs267599059
|
0.00023
|
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)
|
rs372635204
|
0.00023
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)
|
rs202032875
|
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_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=)
|
rs141944722
|
0.00023
|
NM_002578.5(PAK3):c.601-10G>T
|
rs185674324
|
0.00023
|
NM_002653.5(PITX1):c.262A>C (p.Lys88Gln)
|
rs200888898
|
0.00023
|
NM_002693.3(POLG):c.408C>G (p.Asp136Glu)
|
rs115109291
|
0.00023
|
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=)
|
rs142653419
|
0.00023
|
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=)
|
rs201686029
|
0.00023
|
NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln)
|
rs368985605
|
0.00023
|
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)
|
rs200870815
|
0.00023
|
NM_004006.3(DMD):c.696C>G (p.Ile232Met)
|
rs145668843
|
0.00023
|
NM_004006.3(DMD):c.7310-7A>G
|
rs373230021
|
0.00023
|
NM_004006.3(DMD):c.884G>A (p.Arg295Gln)
|
rs377587957
|
0.00023
|
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028
|
0.00023
|
NM_005476.7(GNE):c.843C>T (p.His281=)
|
rs138694766
|
0.00023
|
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=)
|
rs138459752
|
0.00023
|
NM_005676.5(RBM10):c.2175G>T (p.Pro725=)
|
rs137940243
|
0.00023
|
NM_014795.4(ZEB2):c.462G>A (p.Glu154=)
|
rs372940559
|
0.00023
|
NM_015192.4(PLCB1):c.714A>C (p.Pro238=)
|
rs147567110
|
0.00023
|
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu)
|
rs200187663
|
0.00023
|
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=)
|
rs370385319
|
0.00023
|
NM_018668.5(VPS33B):c.1658-7C>T
|
rs375376103
|
0.00023
|
NM_018668.5(VPS33B):c.240-9C>T
|
rs781107857
|
0.00023
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)
|
rs181275139
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr)
|
rs149441561
|
0.00023
|
NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=)
|
rs201233415
|
0.00023
|
NM_080916.3(DGUOK):c.664C>T (p.Leu222=)
|
rs375686551
|
0.00023
|
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)
|
rs201650333
|
0.00023
|
NM_181332.3(NLGN4X):c.1305G>A (p.Thr435=)
|
rs149512448
|
0.00023
|
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys)
|
rs144702281
|
0.00023
|
NM_182961.4(SYNE1):c.2569-8C>T
|
rs376033376
|
0.00023
|
NM_182961.4(SYNE1):c.9807+5C>T
|
rs185350092
|
0.00023
|
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=)
|
rs199990259
|
0.00023
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)
|
rs201665434
|
0.00022
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000214.3(JAG1):c.1348+3G>A
|
rs368718180
|
0.00022
|
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=)
|
rs138452567
|
0.00022
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00022
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)
|
rs150430628
|
0.00022
|
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=)
|
rs373599360
|
0.00022
|
NM_000271.5(NPC1):c.471C>T (p.Tyr157=)
|
rs145101354
|
0.00022
|
NM_000295.5(SERPINA1):c.-4G>A
|
rs374417614
|
0.00022
|
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)
|
rs376612765
|
0.00022
|
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)
|
rs141193981
|
0.00022
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_000702.4(ATP1A2):c.1652-8C>T
|
rs370023134
|
0.00022
|
NM_000875.5(IGF1R):c.1500G>A (p.Thr500=)
|
rs370500527
|
0.00022
|
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
|
rs201824641
|
0.00022
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=)
|
rs878853625
|
0.00022
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00022
|
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=)
|
rs372083517
|
0.00022
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
NM_001177316.2(SLC34A3):c.1473C>T (p.Tyr491=)
|
rs148095831
|
0.00022
|
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)
|
rs183336802
|
0.00022
|
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)
|
rs199710082
|
0.00022
|
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=)
|
rs192857526
|
0.00022
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile)
|
rs367854582
|
0.00022
|
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
|
rs200952728
|
0.00022
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)
|
rs183620684
|
0.00022
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_001297.5(CNGB1):c.838-4G>T
|
rs375539469
|
0.00022
|
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=)
|
rs368449473
|
0.00022
|
NM_001367721.1(CASK):c.356+6T>C
|
rs200402760
|
0.00022
|
NM_001377.3(DYNC2H1):c.10043-7T>A
|
rs376067770
|
0.00022
|
NM_001378120.1(MBD5):c.276A>G (p.Ala92=)
|
rs141855494
|
0.00022
|
NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=)
|
rs138137158
|
0.00022
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)
|
rs151178361
|
0.00022
|
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)
|
rs528149001
|
0.00022
|
NM_001493.3(GDI1):c.1167C>T (p.Pro389=)
|
rs140855833
|
0.00022
|
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
|
rs63751100
|
0.00022
|
NM_002335.4(LRP5):c.1395A>C (p.Ala465=)
|
rs200075657
|
0.00022
|
NM_002335.4(LRP5):c.639C>T (p.Asp213=)
|
rs150859573
|
0.00022
|
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=)
|
rs4876870
|
0.00022
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)
|
rs60203778
|
0.00022
|
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)
|
rs199643655
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
NM_004006.3(DMD):c.9287-8C>T
|
rs371035624
|
0.00022
|
NM_004304.5(ALK):c.3291C>T (p.Cys1097=)
|
rs370170353
|
0.00022
|
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=)
|
rs375909800
|
0.00022
|
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)
|
rs115551245
|
0.00022
|
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)
|
rs371522442
|
0.00022
|
NM_005378.6(MYCN):c.1093C>G (p.Pro365Ala)
|
rs140276895
|
0.00022
|
NM_005633.4(SOS1):c.1770G>A (p.Glu590=)
|
rs553331572
|
0.00022
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
NM_006017.3(PROM1):c.2271C>T (p.Ile757=)
|
rs375986111
|
0.00022
|
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=)
|
rs150788130
|
0.00022
|
NM_006950.3(SYN1):c.1569G>A (p.Ala523=)
|
rs587781185
|
0.00022
|
NM_014425.5(INVS):c.114T>C (p.Ser38=)
|
rs114056499
|
0.00022
|
NM_014467.3(SRPX2):c.693C>A (p.His231Gln)
|
rs142719253
|
0.00022
|
NM_014780.5(CUL7):c.981C>T (p.Pro327=)
|
rs144880219
|
0.00022
|
NM_015311.3(OBSL1):c.1283-9G>A
|
rs376967214
|
0.00022
|
NM_016356.5(DCDC2):c.222C>A (p.Ile74=)
|
rs138670560
|
0.00022
|
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)
|
rs201423234
|
0.00022
|
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser)
|
rs147415811
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)
|
rs184127567
|
0.00022
|
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00022
|
NM_022437.3(ABCG8):c.322+6G>A
|
rs181319879
|
0.00022
|
NM_024301.5(FKRP):c.885C>T (p.Arg295=)
|
rs769005880
|
0.00022
|
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr)
|
rs115013051
|
0.00022
|
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro)
|
rs556803400
|
0.00022
|
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val)
|
rs200636818
|
0.00022
|
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=)
|
rs528765554
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu)
|
rs138671220
|
0.00022
|
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)
|
rs375921325
|
0.00022
|
NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys)
|
rs145460295
|
0.00022
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_139058.3(ARX):c.336A>G (p.Ala112=)
|
rs794727308
|
0.00022
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)
|
rs115535983
|
0.00022
|
NM_201384.3(PLEC):c.2163C>T (p.Asn721=)
|
rs374712759
|
0.00022
|
NM_201384.3(PLEC):c.2268C>T (p.Thr756=)
|
rs371267446
|
0.00022
|
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys)
|
rs372256096
|
0.00022
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu)
|
rs74315297
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser)
|
rs56296335
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_000441.2(SLC26A4):c.1544+9C>T
|
rs368970459
|
0.00021
|
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu)
|
rs145778165
|
0.00021
|
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)
|
rs144249535
|
0.00021
|
NM_000487.6(ARSA):c.636C>T (p.Ala212=)
|
rs200182983
|
0.00021
|
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)
|
rs201434579
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_000550.3(TYRP1):c.1261+1G>A
|
rs140365820
|
0.00021
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)
|
rs121912283
|
0.00021
|
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)
|
rs148132118
|
0.00021
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
NM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=)
|
rs375936342
|
0.00021
|
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp)
|
rs746156911
|
0.00021
|
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=)
|
rs61751442
|
0.00021
|
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)
|
rs150355624
|
0.00021
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile)
|
rs555768104
|
0.00021
|
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=)
|
rs147378590
|
0.00021
|
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=)
|
rs200471732
|
0.00021
|
NM_001194998.2(CEP152):c.2920C>A (p.Gln974Lys)
|
rs370745843
|
0.00021
|
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)
|
rs199996308
|
0.00021
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)
|
rs201263441
|
0.00021
|
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)
|
rs376744914
|
0.00021
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)
|
rs201581947
|
0.00021
|
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)
|
rs372065796
|
0.00021
|
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)
|
rs374472044
|
0.00021
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00021
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
0.00021
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)
|
rs190967471
|
0.00021
|
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=)
|
rs145823218
|
0.00021
|
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)
|
rs200625964
|
0.00021
|
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp)
|
rs372311299
|
0.00021
|
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=)
|
rs371014306
|
0.00021
|
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)
|
rs369039902
|
0.00021
|
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)
|
rs121434424
|
0.00021
|
NM_001701.4(BAAT):c.1173C>T (p.His391=)
|
rs113673597
|
0.00021
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
NM_002437.5(MPV17):c.31C>T (p.Leu11=)
|
rs540291444
|
0.00021
|
NM_002618.4(PEX13):c.354T>C (p.Phe118=)
|
rs143378216
|
0.00021
|
NM_002900.3(RBP3):c.1514A>T (p.His505Leu)
|
rs201808774
|
0.00021
|
NM_003282.4(TNNI2):c.333A>G (p.Pro111=)
|
rs201133081
|
0.00021
|
NM_003722.5(TP63):c.504C>T (p.Asn168=)
|
rs141278696
|
0.00021
|
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)
|
rs199986217
|
0.00021
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
NM_004369.4(COL6A3):c.759C>T (p.Thr253=)
|
rs376087730
|
0.00021
|
NM_004463.3(FGD1):c.1563C>T (p.Pro521=)
|
rs201996522
|
0.00021
|
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)
|
rs118192254
|
0.00021
|
NM_004565.3(PEX14):c.360A>G (p.Ala120=)
|
rs148479162
|
0.00021
|
NM_004985.5(KRAS):c.264A>G (p.Lys88=)
|
rs370920665
|
0.00021
|
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp)
|
rs144844263
|
0.00021
|
NM_005609.4(PYGM):c.1143G>A (p.Leu381=)
|
rs143401208
|
0.00021
|
NM_005708.5(GPC6):c.10T>A (p.Trp4Arg)
|
rs200925249
|
0.00021
|
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=)
|
rs141335706
|
0.00021
|
NM_005989.4(AKR1D1):c.262-7C>A
|
rs144365681
|
0.00021
|
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)
|
rs200178859
|
0.00021
|
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=)
|
rs138766015
|
0.00021
|
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg)
|
rs149264761
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys)
|
rs72553876
|
0.00021
|
NM_014425.5(INVS):c.67G>A (p.Val23Ile)
|
rs145303373
|
0.00021
|
NM_015294.6(TRIM37):c.2577-7C>G
|
rs199694001
|
0.00021
|
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=)
|
rs72862973
|
0.00021
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn)
|
rs139876661
|
0.00021
|
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly)
|
rs190693455
|
0.00021
|
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser)
|
rs188955444
|
0.00021
|
NM_020223.4(FAM20C):c.1299G>A (p.Pro433=)
|
rs568534039
|
0.00021
|
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)
|
rs139580010
|
0.00021
|
NM_022455.5(NSD1):c.1635G>A (p.Thr545=)
|
rs371958844
|
0.00021
|
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=)
|
rs372450763
|
0.00021
|
NM_025193.4(HSD3B7):c.695-5G>A
|
rs201111173
|
0.00021
|
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248
|
0.00021
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672
|
0.00021
|
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe)
|
rs767087695
|
0.00021
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp)
|
rs189036094
|
0.00021
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00021
|
NM_138694.4(PKHD1):c.8554+3A>G
|
rs370312392
|
0.00021
|
NM_153676.4(USH1C):c.513C>T (p.Pro171=)
|
rs199739341
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_181426.2(CCDC39):c.1035-5T>C
|
rs200089274
|
0.00021
|
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=)
|
rs148708516
|
0.00021
|
NM_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)
|
rs144376043
|
0.00021
|
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)
|
rs200880341
|
0.00021
|
NM_182961.4(SYNE1):c.3669+4C>G
|
rs376511242
|
0.00021
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
NM_194248.3(OTOF):c.327+10C>A
|
rs377042002
|
0.00021
|
NM_198428.3(BBS9):c.771A>G (p.Ala257=)
|
rs145007686
|
0.00021
|
NM_198525.3(KIF7):c.612C>T (p.His204=)
|
rs398124613
|
0.00021
|
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)
|
rs375097273
|
0.00021
|
NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg)
|
rs201928401
|
0.00021
|
NM_201384.3(PLEC):c.7686C>T (p.Ala2562=)
|
rs534269714
|
0.00021
|
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys)
|
rs200128670
|
0.00021
|
NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val)
|
rs183230983
|
0.00021
|
NM_207361.6(FREM2):c.2180G>A (p.Arg727His)
|
rs201714905
|
0.00021
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln)
|
rs148845653
|
0.00020
|
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg)
|
rs139707740
|
0.00020
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000426.4(LAMA2):c.2304C>T (p.Asp768=)
|
rs142126511
|
0.00020
|
NM_001039141.3(TRIOBP):c.3774C>T (p.Pro1258=)
|
rs377749969
|
0.00020
|
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00020
|
NM_001102564.3(IFT43):c.296-5602T>C
|
rs141114765
|
0.00020
|
NM_001110556.2(FLNA):c.732C>T (p.Pro244=)
|
rs371092631
|
0.00020
|
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)
|
rs61752980
|
0.00020
|
NM_001110792.2(MECP2):c.462C>T (p.Phe154=)
|
rs61748397
|
0.00020
|
NM_001170629.2(CHD8):c.4921+5G>A
|
rs377595194
|
0.00020
|
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)
|
rs201566142
|
0.00020
|
NM_001252024.2(TRPM1):c.4681C>T (p.Pro1561Ser)
|
rs183837653
|
0.00020
|
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)
|
rs200430493
|
0.00020
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00020
|
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)
|
rs201029552
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00020
|
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)
|
rs72648219
|
0.00020
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)
|
rs199663613
|
0.00020
|
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser)
|
rs200638114
|
0.00020
|
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=)
|
rs200499325
|
0.00020
|
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
|
rs149278000
|
0.00020
|
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)
|
rs775431837
|
0.00020
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_001429.4(EP300):c.324C>T (p.Ala108=)
|
rs138876937
|
0.00020
|
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=)
|
rs200124802
|
0.00020
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met)
|
rs140527463
|
0.00020
|
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)
|
rs147226818
|
0.00020
|
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu)
|
rs200578414
|
0.00020
|
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=)
|
rs368967997
|
0.00020
|
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn)
|
rs182708940
|
0.00020
|
NM_004006.3(DMD):c.1809G>A (p.Leu603=)
|
rs192176661
|
0.00020
|
NM_004006.3(DMD):c.3666T>C (p.Asn1222=)
|
rs373281760
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)
|
rs571177831
|
0.00020
|
NM_004839.4(HOMER2):c.609G>T (p.Gln203His)
|
rs200964994
|
0.00020
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
0.00020
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
0.00020
|
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn)
|
rs200654820
|
0.00020
|
NM_022436.3(ABCG5):c.897C>T (p.Asp299=)
|
rs373237261
|
0.00020
|
NM_022464.5(SIL1):c.1232G>A (p.Arg411His)
|
rs192255604
|
0.00020
|
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val)
|
rs144085805
|
0.00020
|
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala)
|
rs76345011
|
0.00020
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576
|
0.00020
|
NM_054012.4(ASS1):c.765C>T (p.Asn255=)
|
rs375579096
|
0.00020
|
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser)
|
rs142132973
|
0.00020
|
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=)
|
rs368101035
|
0.00020
|
NM_153240.5(NPHP3):c.2172-4A>G
|
rs375032661
|
0.00020
|
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=)
|
rs188431787
|
0.00020
|
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)
|
rs187218889
|
0.00020
|
NM_182914.3(SYNE2):c.13918-6T>C
|
rs187859624
|
0.00020
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=)
|
rs150727562
|
0.00020
|
NM_201384.3(PLEC):c.11031C>T (p.Leu3677=)
|
rs376779580
|
0.00020
|
NM_201384.3(PLEC):c.2785C>T (p.Leu929=)
|
rs369676162
|
0.00020
|
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)
|
rs574482100
|
0.00020
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00020
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NC_000002.12:g.178719839G>A
|
rs771244164
|
0.00019
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00019
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000026.4(ADSL):c.357+7G>A
|
rs199993991
|
0.00019
|
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)
|
rs80358408
|
0.00019
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
NM_000088.4(COL1A1):c.3100-6C>T
|
rs377123276
|
0.00019
|
NM_000117.3(EMD):c.445G>C (p.Asp149His)
|
rs2070818
|
0.00019
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)
|
rs148043302
|
0.00019
|
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu)
|
rs200211315
|
0.00019
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_000214.3(JAG1):c.2073T>C (p.Cys691=)
|
rs200648035
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=)
|
rs191776973
|
0.00019
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
NM_000337.6(SGCD):c.699+18C>G
|
rs180898690
|
0.00019
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=)
|
rs138673546
|
0.00019
|
NM_000392.5(ABCC2):c.2499T>C (p.Val833=)
|
rs75148532
|
0.00019
|
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)
|
rs369449821
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=)
|
rs8187808
|
0.00019
|
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=)
|
rs144354798
|
0.00019
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)
|
rs138058578
|
0.00019
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=)
|
rs200427576
|
0.00019
|
NM_000541.5(SAG):c.1167T>A (p.Asp389Glu)
|
rs199798289
|
0.00019
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr)
|
rs141467566
|
0.00019
|
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)
|
rs374857905
|
0.00019
|
NM_000726.5(CACNB4):c.*4T>C
|
rs556761275
|
0.00019
|
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)
|
rs139279260
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
NM_001083614.2(EARS2):c.280A>G (p.Met94Val)
|
rs200139797
|
0.00019
|
NM_001101426.4(CRPPA):c.531C>T (p.His177=)
|
rs376195897
|
0.00019
|
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)
|
rs371300262
|
0.00019
|
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=)
|
rs199530601
|
0.00019
|
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)
|
rs17846921
|
0.00019
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=)
|
rs373491498
|
0.00019
|
NM_001130987.2(DYSF):c.316C>T (p.Leu106=)
|
rs374934430
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)
|
rs398123574
|
0.00019
|
NM_001164508.2(NEB):c.19295A>G (p.Gln6432Arg)
|
rs189912759
|
0.00019
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)
|
rs553367989
|
0.00019
|
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)
|
rs374876608
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=)
|
rs374878689
|
0.00019
|
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)
|
rs370137295
|
0.00019
|
NM_001267550.2(TTN):c.14424G>C (p.Val4808=)
|
rs374479775
|
0.00019
|
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro)
|
rs375177753
|
0.00019
|
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His)
|
rs181067357
|
0.00019
|
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln)
|
rs201420077
|
0.00019
|
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)
|
rs371447978
|
0.00019
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
NM_001267550.2(TTN):c.39548-8A>G
|
rs369594816
|
0.00019
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
NM_001267550.2(TTN):c.5645G>A (p.Arg1882His)
|
rs374605213
|
0.00019
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00019
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00019
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)
|
rs76928874
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr)
|
rs560306385
|
0.00019
|
NM_001287.6(CLCN7):c.558C>T (p.Phe186=)
|
rs147280414
|
0.00019
|
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=)
|
rs200698497
|
0.00019
|
NM_001360.3(DHCR7):c.729C>T (p.Pro243=)
|
rs145284180
|
0.00019
|
NM_001360.3(DHCR7):c.99-5C>T
|
rs372886043
|
0.00019
|
NM_001360016.2(G6PD):c.864+17A>T
|
rs377041776
|
0.00019
|
NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=)
|
rs199673396
|
0.00019
|
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)
|
rs187558439
|
0.00019
|
NM_001374385.1(ATP8B1):c.555-3T>C
|
rs367948617
|
0.00019
|
NM_001384140.1(PCDH15):c.4672-1564T>C
|
rs193186244
|
0.00019
|
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val)
|
rs139496915
|
0.00019
|
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu)
|
rs193026103
|
0.00019
|
NM_001457.4(FLNB):c.5445C>T (p.Tyr1815=)
|
rs755702006
|
0.00019
|
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=)
|
rs201723447
|
0.00019
|
NM_001793.6(CDH3):c.918C>T (p.Asp306=)
|
rs201521473
|
0.00019
|
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=)
|
rs757948524
|
0.00019
|
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)
|
rs149845431
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_001966.4(EHHADH):c.77C>T (p.Thr26Met)
|
rs138013408
|
0.00019
|
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=)
|
rs200714716
|
0.00019
|
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn)
|
rs149642039
|
0.00019
|
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=)
|
rs201219613
|
0.00019
|
NM_003482.4(KMT2D):c.2838G>A (p.Ala946=)
|
rs376753331
|
0.00019
|
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala)
|
rs150354113
|
0.00019
|
NM_004006.3(DMD):c.2166A>G (p.Lys722=)
|
rs147580966
|
0.00019
|
NM_004006.3(DMD):c.4072-3T>C
|
rs751657094
|
0.00019
|
NM_004006.3(DMD):c.6471T>A (p.Thr2157=)
|
rs377080659
|
0.00019
|
NM_004086.3(COCH):c.198A>T (p.Val66=)
|
rs28400029
|
0.00019
|
NM_004187.5(KDM5C):c.536G>A (p.Arg179His)
|
rs201805773
|
0.00019
|
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=)
|
rs114791158
|
0.00019
|
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)
|
rs144291325
|
0.00019
|
NM_004447.6(EPS8):c.2195C>T (p.Thr732Met)
|
rs141592108
|
0.00019
|
NM_004482.4(GALNT3):c.51T>C (p.His17=)
|
rs149612790
|
0.00019
|
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)
|
rs117134265
|
0.00019
|
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)
|
rs34574788
|
0.00019
|
NM_004698.4(PRPF3):c.501A>G (p.Thr167=)
|
rs146995242
|
0.00019
|
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=)
|
rs141675065
|
0.00019
|
NM_004977.3(KCNC3):c.1429G>A (p.Asp477Asn)
|
rs148033381
|
0.00019
|
NM_005045.4(RELN):c.4260G>A (p.Gly1420=)
|
rs150518726
|
0.00019
|
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)
|
rs757215612
|
0.00019
|
NM_005548.3(KARS1):c.482+8G>A
|
rs377697859
|
0.00019
|
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln)
|
rs200996196
|
0.00019
|
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile)
|
rs142539969
|
0.00019
|
NM_006261.5(PROP1):c.96G>A (p.Pro32=)
|
rs144314831
|
0.00019
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
NM_006922.4(SCN3A):c.363T>C (p.Ala121=)
|
rs145171998
|
0.00019
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=)
|
rs184994408
|
0.00019
|
NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=)
|
rs370095062
|
0.00019
|
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)
|
rs143877538
|
0.00019
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)
|
rs200620279
|
0.00019
|
NM_014639.4(SKIC3):c.1446T>C (p.Phe482=)
|
rs142880784
|
0.00019
|
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
|
rs200067423
|
0.00019
|
NM_014714.4(IFT140):c.2787G>A (p.Thr929=)
|
rs374661866
|
0.00019
|
NM_014920.5(CILK1):c.555G>A (p.Ala185=)
|
rs138668959
|
0.00019
|
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu)
|
rs768802269
|
0.00019
|
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)
|
rs146802593
|
0.00019
|
NM_017777.4(MKS1):c.1176G>A (p.Pro392=)
|
rs775169308
|
0.00019
|
NM_017777.4(MKS1):c.1408-3C>T
|
rs377033273
|
0.00019
|
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=)
|
rs371898908
|
0.00019
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00019
|
NM_021072.4(HCN1):c.159C>G (p.His53Gln)
|
rs10066808
|
0.00019
|
NM_022124.6(CDH23):c.3486G>C (p.Gly1162=)
|
rs397517324
|
0.00019
|
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=)
|
rs146601031
|
0.00019
|
NM_022455.5(NSD1):c.6464-5T>C
|
rs545039997
|
0.00019
|
NM_022455.5(NSD1):c.6464-8G>T
|
rs577262396
|
0.00019
|
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)
|
rs74315318
|
0.00019
|
NM_032119.4(ADGRV1):c.10550-7C>T
|
rs191228562
|
0.00019
|
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr)
|
rs201483312
|
0.00019
|
NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser)
|
rs557331348
|
0.00019
|
NM_032119.4(ADGRV1):c.2734+8A>G
|
rs371906040
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_032409.3(PINK1):c.858G>A (p.Pro286=)
|
rs148144773
|
0.00019
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
NM_080680.3(COL11A2):c.233-8G>T
|
rs375268140
|
0.00019
|
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)
|
rs151319255
|
0.00019
|
NM_133379.5(TTN):c.13614A>C (p.Gln4538His)
|
rs139344272
|
0.00019
|
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00019
|
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=)
|
rs149310653
|
0.00019
|
NM_144498.4(OSBPL2):c.833A>G (p.Lys278Arg)
|
rs199648498
|
0.00019
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
NM_170699.3(GPBAR1):c.531C>T (p.Ala177=)
|
rs200360810
|
0.00019
|
NM_178170.3(NEK8):c.294C>G (p.Ser98=)
|
rs140255077
|
0.00019
|
NM_181303.2(NLGN3):c.20C>T (p.Pro7Leu)
|
rs199925687
|
0.00019
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met)
|
rs143034104
|
0.00019
|
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)
|
rs199761238
|
0.00019
|
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=)
|
rs146705789
|
0.00019
|
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)
|
rs142251671
|
0.00019
|
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu)
|
rs140090745
|
0.00019
|
NM_182961.4(SYNE1):c.24642+3A>G
|
rs117346210
|
0.00019
|
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile)
|
rs199613764
|
0.00019
|
NM_198525.3(KIF7):c.2586C>T (p.Arg862=)
|
rs141097070
|
0.00019
|
NM_201384.3(PLEC):c.11574G>A (p.Thr3858=)
|
rs370526712
|
0.00019
|
NM_201384.3(PLEC):c.12216C>T (p.Phe4072=)
|
rs150427959
|
0.00019
|
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln)
|
rs373617951
|
0.00019
|
NM_201384.3(PLEC):c.8316C>T (p.Arg2772=)
|
rs782420340
|
0.00019
|
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=)
|
rs376081492
|
0.00019
|
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)
|
rs201211875
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_206933.4(USH2A):c.5619C>T (p.Val1873=)
|
rs138416665
|
0.00019
|
NM_000035.4(ALDOB):c.582T>C (p.Asp194=)
|
rs141988626
|
0.00018
|
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)
|
rs199884116
|
0.00018
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
NM_000145.4(FSHR):c.312G>A (p.Lys104=)
|
rs147355964
|
0.00018
|
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)
|
rs528369909
|
0.00018
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
NM_000169.3(GLA):c.129C>T (p.Gly43=)
|
rs146177035
|
0.00018
|
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)
|
rs138065338
|
0.00018
|
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)
|
rs141647790
|
0.00018
|
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)
|
rs200138397
|
0.00018
|
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His)
|
rs373288848
|
0.00018
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr)
|
rs376330042
|
0.00018
|
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)
|
rs114982090
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_000548.5(TSC2):c.4044C>T (p.His1348=)
|
rs137854084
|
0.00018
|
NM_000719.7(CACNA1C):c.4140+4G>A
|
rs111442547
|
0.00018
|
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=)
|
rs398124212
|
0.00018
|
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=)
|
rs114563841
|
0.00018
|
NM_001130438.3(SPTAN1):c.2011+10G>A
|
rs377437879
|
0.00018
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)
|
rs150345121
|
0.00018
|
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=)
|
rs143562140
|
0.00018
|
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)
|
rs199937246
|
0.00018
|
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=)
|
rs372006606
|
0.00018
|
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)
|
rs377627937
|
0.00018
|
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=)
|
rs775395101
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
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.25209T>C (p.Asp8403=)
|
rs569860898
|
0.00018
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_001267550.2(TTN):c.30511+3G>A
|
rs563582627
|
0.00018
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00018
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)
|
rs201922910
|
0.00018
|
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)
|
rs200728232
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=)
|
rs374612925
|
0.00018
|
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)
|
rs369405564
|
0.00018
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
NM_001367624.2(ZNF469):c.248C>T (p.Pro83Leu)
|
rs775103017
|
0.00018
|
NM_001374385.1(ATP8B1):c.1030-9G>A
|
rs201532178
|
0.00018
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00018
|
NM_001457.4(FLNB):c.4390+8T>A
|
rs377095569
|
0.00018
|
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=)
|
rs373635709
|
0.00018
|
NM_001966.4(EHHADH):c.1414G>A (p.Val472Ile)
|
rs138187022
|
0.00018
|
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)
|
rs62638191
|
0.00018
|
NM_003839.4(TNFRSF11A):c.321G>A (p.Thr107=)
|
rs772863037
|
0.00018
|
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)
|
rs199588981
|
0.00018
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00018
|
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)
|
rs148135406
|
0.00018
|
NM_004006.3(DMD):c.94-3C>T
|
rs373907950
|
0.00018
|
NM_004086.3(COCH):c.87C>T (p.Pro29=)
|
rs774290415
|
0.00018
|
NM_004463.3(FGD1):c.2289G>A (p.Lys763=)
|
rs150865566
|
0.00018
|
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys)
|
rs114501042
|
0.00018
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00018
|
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=)
|
rs201884756
|
0.00018
|
NM_014874.4(MFN2):c.175+9G>A
|
rs373340717
|
0.00018
|
NM_017433.5(MYO3A):c.2506-1G>A
|
rs201023600
|
0.00018
|
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln)
|
rs202193200
|
0.00018
|
NM_020822.3(KCNT1):c.867C>A (p.Ile289=)
|
rs761045901
|
0.00018
|
NM_022124.6(CDH23):c.3431-6A>T
|
rs377614198
|
0.00018
|
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr)
|
rs201823140
|
0.00018
|
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His)
|
rs143669310
|
0.00018
|
NM_080680.3(COL11A2):c.2017-5T>G
|
rs200523422
|
0.00018
|
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr)
|
rs148492034
|
0.00018
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00018
|
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=)
|
rs2296253
|
0.00018
|
NM_182961.4(SYNE1):c.24150C>T (p.His8050=)
|
rs140259310
|
0.00018
|
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr)
|
rs146618661
|
0.00018
|
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=)
|
rs114425388
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)
|
rs201855218
|
0.00018
|
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)
|
rs372652727
|
0.00018
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00017
|
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=)
|
rs115777661
|
0.00017
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000392.5(ABCC2):c.3258+1G>A
|
rs762243203
|
0.00017
|
NM_000434.4(NEU1):c.649G>A (p.Val217Met)
|
rs28940583
|
0.00017
|
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)
|
rs150946659
|
0.00017
|
NM_000540.3(RYR1):c.14061G>A (p.Leu4687=)
|
rs201629205
|
0.00017
|
NM_000548.5(TSC2):c.148A>G (p.Met50Val)
|
rs140618379
|
0.00017
|
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=)
|
rs541967618
|
0.00017
|
NM_001039876.3(SYNE4):c.213C>T (p.Ala71=)
|
rs182159084
|
0.00017
|
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)
|
rs199498900
|
0.00017
|
NM_001083961.2(WDR62):c.1233+7C>G
|
rs537771936
|
0.00017
|
NM_001111.5(ADAR):c.2496+9G>A
|
rs199698434
|
0.00017
|
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=)
|
rs147706810
|
0.00017
|
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=)
|
rs546016935
|
0.00017
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00017
|
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=)
|
rs141720146
|
0.00017
|
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile)
|
rs139402062
|
0.00017
|
NM_001177316.2(SLC34A3):c.448+1G>A
|
rs150841256
|
0.00017
|
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter)
|
rs201442213
|
0.00017
|
NM_001206979.2(NR1H4):c.658G>T (p.Ala220Ser)
|
rs180957965
|
0.00017
|
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)
|
rs373378672
|
0.00017
|
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)
|
rs201065037
|
0.00017
|
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=)
|
rs182355009
|
0.00017
|
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp)
|
rs577066020
|
0.00017
|
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)
|
rs55734111
|
0.00017
|
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile)
|
rs375141729
|
0.00017
|
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)
|
rs727504191
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met)
|
rs149309725
|
0.00017
|
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu)
|
rs148555948
|
0.00017
|
NM_001351132.2(PEX5):c.316+3G>A
|
rs200776790
|
0.00017
|
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=)
|
rs184773311
|
0.00017
|
NM_001368397.1(FRMPD4):c.3379G>A (p.Glu1127Lys)
|
rs143423231
|
0.00017
|
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg)
|
rs727503147
|
0.00017
|
NM_001614.5(ACTG1):c.825C>T (p.His275=)
|
rs145303691
|
0.00017
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
0.00017
|
NM_002025.4(AFF2):c.2424C>T (p.Asp808=)
|
rs139807832
|
0.00017
|
NM_002335.4(LRP5):c.*4C>T
|
rs374104266
|
0.00017
|
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)
|
rs148208753
|
0.00017
|
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)
|
rs201699810
|
0.00017
|
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
|
rs200257554
|
0.00017
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
NM_003673.4(TCAP):c.270G>A (p.Pro90=)
|
rs372538567
|
0.00017
|
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)
|
rs199514789
|
0.00017
|
NM_004006.3(DMD):c.5076A>G (p.Thr1692=)
|
rs145181319
|
0.00017
|
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)
|
rs199646208
|
0.00017
|
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)
|
rs144051775
|
0.00017
|
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)
|
rs377572272
|
0.00017
|
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=)
|
rs200111289
|
0.00017
|
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)
|
rs139169188
|
0.00017
|
NM_004393.6(DAG1):c.1308G>A (p.Thr436=)
|
rs143763229
|
0.00017
|
NM_004463.3(FGD1):c.27C>T (p.Gly9=)
|
rs377441190
|
0.00017
|
NM_004560.4(ROR2):c.380C>T (p.Thr127Met)
|
rs375080866
|
0.00017
|
NM_004715.5(CTDP1):c.669G>A (p.Thr223=)
|
rs146831211
|
0.00017
|
NM_004817.4(TJP2):c.705G>T (p.Arg235=)
|
rs750625862
|
0.00017
|
NM_004959.5(NR5A1):c.1266C>T (p.Cys422=)
|
rs140408680
|
0.00017
|
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)
|
rs200010849
|
0.00017
|
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala)
|
rs56103026
|
0.00017
|
NM_005802.5(TOPORS):c.2019T>A (p.Arg673=)
|
rs760719392
|
0.00017
|
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=)
|
rs143560726
|
0.00017
|
NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=)
|
rs149920599
|
0.00017
|
NM_006005.3(WFS1):c.975C>T (p.Asn325=)
|
rs141177727
|
0.00017
|
NM_006019.4(TCIRG1):c.1227C>T (p.His409=)
|
rs145080707
|
0.00017
|
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly)
|
rs149459548
|
0.00017
|
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=)
|
rs587781024
|
0.00017
|
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)
|
rs3747834
|
0.00017
|
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)
|
rs201326295
|
0.00017
|
NM_014780.5(CUL7):c.1570-8G>A
|
rs372757013
|
0.00017
|
NM_014989.7(RIMS1):c.3399-4A>G
|
rs368216570
|
0.00017
|
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn)
|
rs200166175
|
0.00017
|
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=)
|
rs200569946
|
0.00017
|
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)
|
rs367848204
|
0.00017
|
NM_017780.4(CHD7):c.6103+6T>C
|
rs371509438
|
0.00017
|
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser)
|
rs370972259
|
0.00017
|
NM_018006.5(TRMU):c.853G>A (p.Val285Ile)
|
rs147754663
|
0.00017
|
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)
|
rs139337746
|
0.00017
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
0.00017
|
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)
|
rs146014987
|
0.00017
|
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)
|
rs376944136
|
0.00017
|
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=)
|
rs185736569
|
0.00017
|
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=)
|
rs139206060
|
0.00017
|
NM_025074.7(FRAS1):c.990A>G (p.Glu330=)
|
rs374045395
|
0.00017
|
NM_030665.4(RAI1):c.5379C>T (p.Gly1793=)
|
rs372539998
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His)
|
rs200907244
|
0.00017
|
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)
|
rs201089046
|
0.00017
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn)
|
rs556999563
|
0.00017
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
NM_133379.5(TTN):c.15981G>A (p.Gln5327=)
|
rs186841908
|
0.00017
|
NM_138691.3(TMC1):c.2070G>A (p.Ala690=)
|
rs145757452
|
0.00017
|
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)
|
rs200679577
|
0.00017
|
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=)
|
rs755688912
|
0.00017
|
NM_138694.4(PKHD1):c.831C>T (p.Ile277=)
|
rs142678486
|
0.00017
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_182914.3(SYNE2):c.14139+5G>A
|
rs374778697
|
0.00017
|
NM_182914.3(SYNE2):c.19417G>C (p.Asp6473His)
|
rs140940287
|
0.00017
|
NM_182961.4(SYNE1):c.582-9A>G
|
rs200412221
|
0.00017
|
NM_201384.3(PLEC):c.10011G>A (p.Thr3337=)
|
rs367762942
|
0.00017
|
NM_201384.3(PLEC):c.10521C>T (p.Asp3507=)
|
rs201905804
|
0.00017
|
NM_201384.3(PLEC):c.4560C>T (p.Arg1520=)
|
rs782412831
|
0.00017
|
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn)
|
rs371673069
|
0.00017
|
NM_201384.3(PLEC):c.7527C>T (p.Ile2509=)
|
rs782605503
|
0.00017
|
NM_201384.3(PLEC):c.801C>T (p.Asp267=)
|
rs202218097
|
0.00017
|
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu)
|
rs140330831
|
0.00016
|
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)
|
rs202019404
|
0.00016
|
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)
|
rs375914028
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000145.4(FSHR):c.446+10T>C
|
rs200504733
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000214.3(JAG1):c.1628G>A (p.Arg543His)
|
rs544877858
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00016
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
NM_000273.3(GPR143):c.541G>A (p.Val181Met)
|
rs200870584
|
0.00016
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
NM_000334.4(SCN4A):c.963C>T (p.Asn321=)
|
rs748863960
|
0.00016
|
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=)
|
rs41311121
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_000350.3(ABCA4):c.5312+8G>A
|
rs187953772
|
0.00016
|
NM_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)
|
rs140352085
|
0.00016
|
NM_000443.4(ABCB4):c.366A>G (p.Gly122=)
|
rs113445400
|
0.00016
|
NM_000443.4(ABCB4):c.80+5A>C
|
rs186976987
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000492.4(CFTR):c.-4G>C
|
rs369326781
|
0.00016
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00016
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)
|
rs144777676
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)
|
rs374936223
|
0.00016
|
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser)
|
rs148090804
|
0.00016
|
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)
|
rs150389057
|
0.00016
|
NM_001024630.4(RUNX2):c.151C>A (p.Gln51Lys)
|
rs368475300
|
0.00016
|
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594
|
0.00016
|
NM_001042472.3(ABHD12):c.787+3G>A
|
rs202150912
|
0.00016
|
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)
|
rs144338642
|
0.00016
|
NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp)
|
rs201053854
|
0.00016
|
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=)
|
rs148474667
|
0.00016
|
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)
|
rs757026025
|
0.00016
|
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)
|
rs371595464
|
0.00016
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)
|
rs200927282
|
0.00016
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=)
|
rs145035963
|
0.00016
|
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln)
|
rs145670933
|
0.00016
|
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val)
|
rs762317674
|
0.00016
|
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu)
|
rs151187637
|
0.00016
|
NM_001200.4(BMP2):c.1041G>A (p.Thr347=)
|
rs143654141
|
0.00016
|
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val)
|
rs201650867
|
0.00016
|
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)
|
rs370300135
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001267550.2(TTN):c.104590C>A (p.Pro34864Thr)
|
rs756640084
|
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.12332C>G (p.Ala4111Gly)
|
rs140289517
|
0.00016
|
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)
|
rs117551279
|
0.00016
|
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)
|
rs374156904
|
0.00016
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)
|
rs139636676
|
0.00016
|
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys)
|
rs200914097
|
0.00016
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
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.54740T>C (p.Met18247Thr)
|
rs200585270
|
0.00016
|
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser)
|
rs201337786
|
0.00016
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)
|
rs141965360
|
0.00016
|
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile)
|
rs371081043
|
0.00016
|
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)
|
rs72646877
|
0.00016
|
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)
|
rs187868672
|
0.00016
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00016
|
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)
|
rs201091376
|
0.00016
|
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)
|
rs373326137
|
0.00016
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp)
|
rs200022152
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)
|
rs373727636
|
0.00016
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
0.00016
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)
|
rs200052398
|
0.00016
|
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)
|
rs377088951
|
0.00016
|
NM_001351132.2(PEX5):c.396T>C (p.Thr132=)
|
rs370827246
|
0.00016
|
NM_001367624.2(ZNF469):c.8489G>C (p.Gly2830Ala)
|
rs541325052
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=)
|
rs45596541
|
0.00016
|
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=)
|
rs141737883
|
0.00016
|
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)
|
rs202103224
|
0.00016
|
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro)
|
rs140187237
|
0.00016
|
NM_001482.3(GATM):c.692C>G (p.Ser231Cys)
|
rs202225656
|
0.00016
|
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)
|
rs201646745
|
0.00016
|
NM_001848.3(COL6A1):c.1398+10G>A
|
rs143438559
|
0.00016
|
NM_001848.3(COL6A1):c.429-8C>T
|
rs768951384
|
0.00016
|
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
0.00016
|
NM_001849.4(COL6A2):c.786C>G (p.Gly262=)
|
rs145500808
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)
|
rs144495959
|
0.00016
|
NM_002335.4(LRP5):c.1299C>T (p.Thr433=)
|
rs145362529
|
0.00016
|
NM_002633.3(PGM1):c.1600-3C>T
|
rs375450688
|
0.00016
|
NM_002693.3(POLG):c.186A>G (p.Leu62=)
|
rs745310138
|
0.00016
|
NM_002857.4(PEX19):c.21C>G (p.Gly7=)
|
rs140039683
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe)
|
rs200022583
|
0.00016
|
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu)
|
rs200245957
|
0.00016
|
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=)
|
rs371444130
|
0.00016
|
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=)
|
rs370414767
|
0.00016
|
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe)
|
rs587778471
|
0.00016
|
NM_003722.5(TP63):c.992+10G>A
|
rs373106660
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_004006.3(DMD):c.8974G>A (p.Val2992Met)
|
rs201691420
|
0.00016
|
NM_004260.4(RECQL4):c.1391-4G>T
|
rs190388213
|
0.00016
|
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=)
|
rs727504214
|
0.00016
|
NM_004393.6(DAG1):c.1719C>T (p.His573=)
|
rs146157416
|
0.00016
|
NM_004813.4(PEX16):c.999C>T (p.Tyr333=)
|
rs146657010
|
0.00016
|
NM_005045.4(RELN):c.2376T>C (p.Gly792=)
|
rs398124191
|
0.00016
|
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr)
|
rs148582008
|
0.00016
|
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp)
|
rs143437991
|
0.00016
|
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)
|
rs150565592
|
0.00016
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp)
|
rs376189812
|
0.00016
|
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)
|
rs200099217
|
0.00016
|
NM_006031.6(PCNT):c.9840-4G>A
|
rs199857861
|
0.00016
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr)
|
rs368587038
|
0.00016
|
NM_006915.3(RP2):c.30G>A (p.Lys10=)
|
rs782402689
|
0.00016
|
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu)
|
rs199975643
|
0.00016
|
NM_007254.4(PNKP):c.1413T>C (p.His471=)
|
rs370017666
|
0.00016
|
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)
|
rs80357075
|
0.00016
|
NM_012232.6(CAVIN1):c.*10G>A
|
rs200409122
|
0.00016
|
NM_012470.4(TNPO3):c.30C>T (p.Leu10=)
|
rs138263703
|
0.00016
|
NM_013382.7(POMT2):c.1206A>C (p.Pro402=)
|
rs142479943
|
0.00016
|
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=)
|
rs117876038
|
0.00016
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_015972.4(POLR1D):c.177C>T (p.Ile59=)
|
rs144597856
|
0.00016
|
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)
|
rs150942110
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr)
|
rs183480366
|
0.00016
|
NM_016729.3(FOLR1):c.357+8T>A
|
rs886042924
|
0.00016
|
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)
|
rs200644351
|
0.00016
|
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)
|
rs181927766
|
0.00016
|
NM_018136.5(ASPM):c.1980C>T (p.Ile660=)
|
rs151087446
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_019098.5(CNGB3):c.474C>T (p.Pro158=)
|
rs151230930
|
0.00016
|
NM_022124.6(CDH23):c.6050-10C>T
|
rs560760228
|
0.00016
|
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=)
|
rs61756006
|
0.00016
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
NM_025074.7(FRAS1):c.4308+10G>T
|
rs146718957
|
0.00016
|
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)
|
rs182851622
|
0.00016
|
NM_025137.4(SPG11):c.979C>G (p.Leu327Val)
|
rs146109825
|
0.00016
|
NM_030665.4(RAI1):c.1476C>T (p.Pro492=)
|
rs200887225
|
0.00016
|
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met)
|
rs368106957
|
0.00016
|
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)
|
rs115239207
|
0.00016
|
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=)
|
rs371091564
|
0.00016
|
NM_054027.6(ANKH):c.846A>G (p.Thr282=)
|
rs139013878
|
0.00016
|
NM_080680.3(COL11A2):c.4863+7G>A
|
rs200947059
|
0.00016
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
NM_133379.5(TTN):c.12524C>A (p.Ser4175Tyr)
|
rs72647899
|
0.00016
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_173660.5(DOK7):c.957C>G (p.Pro319=)
|
rs777573281
|
0.00016
|
NM_174878.3(CLRN1):c.226T>C (p.Leu76=)
|
rs139829306
|
0.00016
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
NM_201384.3(PLEC):c.11823C>T (p.Asp3941=)
|
rs201426199
|
0.00016
|
NM_201384.3(PLEC):c.12444G>A (p.Thr4148=)
|
rs143548638
|
0.00016
|
NM_201384.3(PLEC):c.2535C>T (p.Ser845=)
|
rs199721954
|
0.00016
|
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)
|
rs782202249
|
0.00016
|
NM_201384.3(PLEC):c.4800C>T (p.His1600=)
|
rs149044728
|
0.00016
|
NM_201384.3(PLEC):c.9692G>A (p.Arg3231His)
|
rs377610697
|
0.00016
|
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr)
|
rs149813671
|
0.00016
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000152.5(GAA):c.368G>A (p.Gly123Glu)
|
rs138034915
|
0.00015
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000214.3(JAG1):c.1806C>T (p.His602=)
|
rs764290237
|
0.00015
|
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr)
|
rs376688581
|
0.00015
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)
|
rs143205855
|
0.00015
|
NM_000316.3(PTH1R):c.638+9G>A
|
rs371052201
|
0.00015
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00015
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=)
|
rs147983048
|
0.00015
|
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
|
rs139444207
|
0.00015
|
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)
|
rs138587317
|
0.00015
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=)
|
rs55741021
|
0.00015
|
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)
|
rs369438564
|
0.00015
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)
|
rs147003118
|
0.00015
|
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)
|
rs141729611
|
0.00015
|
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=)
|
rs141344823
|
0.00015
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
0.00015
|
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)
|
rs185957513
|
0.00015
|
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)
|
rs373744398
|
0.00015
|
NM_001130987.2(DYSF):c.279C>T (p.Leu93=)
|
rs138870937
|
0.00015
|
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)
|
rs181679744
|
0.00015
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)
|
rs370973715
|
0.00015
|
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)
|
rs369992659
|
0.00015
|
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=)
|
rs72677240
|
0.00015
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)
|
rs142004835
|
0.00015
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys)
|
rs746309005
|
0.00015
|
NM_001292063.2(OTOG):c.2871G>A (p.Val957=)
|
rs539784682
|
0.00015
|
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)
|
rs532329866
|
0.00015
|
NM_001351132.2(PEX5):c.129A>G (p.Gly43=)
|
rs932238098
|
0.00015
|
NM_001376.5(DYNC1H1):c.3156+5G>A
|
rs200905961
|
0.00015
|
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)
|
rs148321416
|
0.00015
|
NM_001845.6(COL4A1):c.807+3C>T
|
rs192723236
|
0.00015
|
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)
|
rs181711180
|
0.00015
|
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)
|
rs751192681
|
0.00015
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
0.00015
|
NM_002437.5(MPV17):c.461+2T>C
|
rs138199394
|
0.00015
|
NM_002485.5(NBN):c.38-10T>A
|
rs556807466
|
0.00015
|
NM_002693.3(POLG):c.1356T>C (p.Tyr452=)
|
rs3176179
|
0.00015
|
NM_002979.5(SCP2):c.348C>T (p.Val116=)
|
rs202234745
|
0.00015
|
NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr)
|
rs201089405
|
0.00015
|
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=)
|
rs200155807
|
0.00015
|
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=)
|
rs137955659
|
0.00015
|
NM_004006.3(DMD):c.9486G>A (p.Glu3162=)
|
rs370724251
|
0.00015
|
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met)
|
rs114511558
|
0.00015
|
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=)
|
rs200285455
|
0.00015
|
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro)
|
rs577305576
|
0.00015
|
NM_004385.5(VCAN):c.8621C>T (p.Ala2874Val)
|
rs147798761
|
0.00015
|
NM_004614.5(TK2):c.680C>T (p.Pro227Leu)
|
rs754140768
|
0.00015
|
NM_004817.4(TJP2):c.1473C>A (p.Ala491=)
|
rs138509345
|
0.00015
|
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)
|
rs760663911
|
0.00015
|
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=)
|
rs756942664
|
0.00015
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)
|
rs375204972
|
0.00015
|
NM_022356.4(P3H1):c.1721-4C>T
|
rs200901466
|
0.00015
|
NM_022437.3(ABCG8):c.342G>A (p.Leu114=)
|
rs150970273
|
0.00015
|
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg)
|
rs374110615
|
0.00015
|
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)
|
rs143129484
|
0.00015
|
NM_024301.5(FKRP):c.336C>T (p.Ala112=)
|
rs1054339656
|
0.00015
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_030665.4(RAI1):c.1740G>A (p.Pro580=)
|
rs138768616
|
0.00015
|
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg)
|
rs746952369
|
0.00015
|
NM_032119.4(ADGRV1):c.2538G>A (p.Leu846=)
|
rs375415491
|
0.00015
|
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)
|
rs140674740
|
0.00015
|
NM_139058.3(ARX):c.1119+6C>T
|
rs201300786
|
0.00015
|
NM_153240.5(NPHP3):c.621A>G (p.Val207=)
|
rs139693694
|
0.00015
|
NM_153240.5(NPHP3):c.670+6T>C
|
rs190074663
|
0.00015
|
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)
|
rs199680057
|
0.00015
|
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala)
|
rs374946613
|
0.00015
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00015
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00015
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)
|
rs185829704
|
0.00015
|
NM_194248.3(OTOF):c.446C>T (p.Thr149Met)
|
rs140454738
|
0.00015
|
NM_198904.4(GABRG2):c.768C>T (p.Ser256=)
|
rs201672465
|
0.00015
|
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)
|
rs201765507
|
0.00015
|
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His)
|
rs377150241
|
0.00015
|
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His)
|
rs368152307
|
0.00015
|
NM_201384.3(PLEC):c.3279G>A (p.Leu1093=)
|
rs371818099
|
0.00015
|
NM_201384.3(PLEC):c.5520C>T (p.Ala1840=)
|
rs374790646
|
0.00015
|
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro)
|
rs145114473
|
0.00015
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)
|
rs138574386
|
0.00015
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
NM_213599.3(ANO5):c.279C>T (p.Asp93=)
|
rs148516756
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00014
|
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)
|
rs201919331
|
0.00014
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
NM_000117.3(EMD):c.537G>A (p.Leu179=)
|
rs368661339
|
0.00014
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)
|
rs143966918
|
0.00014
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_000414.4(HSD17B4):c.1767+8T>C
|
rs190659146
|
0.00014
|
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=)
|
rs140483001
|
0.00014
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000528.4(MAN2B1):c.1928+10G>C
|
rs200579436
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)
|
rs144465428
|
0.00014
|
NM_000543.5(SMPD1):c.708G>A (p.Pro236=)
|
rs374604948
|
0.00014
|
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)
|
rs202244080
|
0.00014
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met)
|
rs727503835
|
0.00014
|
NM_000747.3(CHRNB1):c.1217+9A>G
|
rs145242880
|
0.00014
|
NM_000780.4(CYP7A1):c.297A>G (p.Lys99=)
|
rs184906718
|
0.00014
|
NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=)
|
rs144587211
|
0.00014
|
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln)
|
rs200864554
|
0.00014
|
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=)
|
rs376750375
|
0.00014
|
NM_001005361.3(DNM2):c.789G>A (p.Pro263=)
|
rs199976453
|
0.00014
|
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)
|
rs201989984
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001077365.2(POMT1):c.129C>T (p.Asp43=)
|
rs200465419
|
0.00014
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00014
|
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=)
|
rs782748026
|
0.00014
|
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser)
|
rs17846908
|
0.00014
|
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg)
|
rs186950965
|
0.00014
|
NM_001130438.3(SPTAN1):c.7161-8G>A
|
rs202180736
|
0.00014
|
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)
|
rs191337920
|
0.00014
|
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)
|
rs151276652
|
0.00014
|
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)
|
rs200719359
|
0.00014
|
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn)
|
rs149715258
|
0.00014
|
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=)
|
rs371596040
|
0.00014
|
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=)
|
rs368427726
|
0.00014
|
NM_001199397.3(NEK1):c.594A>G (p.Thr198=)
|
rs373252814
|
0.00014
|
NM_001252024.2(TRPM1):c.924G>A (p.Ser308=)
|
rs376610188
|
0.00014
|
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=)
|
rs375625664
|
0.00014
|
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=)
|
rs3731753
|
0.00014
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys)
|
rs563430855
|
0.00014
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met)
|
rs371455094
|
0.00014
|
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln)
|
rs546821182
|
0.00014
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00014
|
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)
|
rs200902055
|
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.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=)
|
rs373429851
|
0.00014
|
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=)
|
rs372382546
|
0.00014
|
NM_001267550.2(TTN):c.50059A>G (p.Ile16687Val)
|
rs727504194
|
0.00014
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00014
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00014
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met)
|
rs373527448
|
0.00014
|
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)
|
rs563969986
|
0.00014
|
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)
|
rs374656017
|
0.00014
|
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)
|
rs200471370
|
0.00014
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00014
|
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)
|
rs558830502
|
0.00014
|
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys)
|
rs571328201
|
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.86025G>A (p.Pro28675=)
|
rs369528150
|
0.00014
|
NM_001267550.2(TTN):c.87111G>A (p.Glu29037=)
|
rs374902148
|
0.00014
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=)
|
rs192167542
|
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.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)
|
rs202224167
|
0.00014
|
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile)
|
rs189261750
|
0.00014
|
NM_001353214.3(DYM):c.534A>G (p.Thr178=)
|
rs775696326
|
0.00014
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_001367624.2(ZNF469):c.4422G>A (p.Ala1474=)
|
rs368877287
|
0.00014
|
NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=)
|
rs764863689
|
0.00014
|
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=)
|
rs201803908
|
0.00014
|
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)
|
rs376746356
|
0.00014
|
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)
|
rs185072004
|
0.00014
|
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=)
|
rs545478008
|
0.00014
|
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln)
|
rs758614807
|
0.00014
|
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)
|
rs369802454
|
0.00014
|
NM_001848.3(COL6A1):c.348C>T (p.Ser116=)
|
rs189444981
|
0.00014
|
NM_001849.4(COL6A2):c.567C>T (p.Ala189=)
|
rs563505047
|
0.00014
|
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala)
|
rs55851925
|
0.00014
|
NM_002241.5(KCNJ10):c.688C>T (p.Arg230Trp)
|
rs149615470
|
0.00014
|
NM_002472.3(MYH8):c.5293-1G>A
|
rs144785726
|
0.00014
|
NM_002473.6(MYH9):c.4024C>T (p.Arg1342Trp)
|
rs147901502
|
0.00014
|
NM_002474.3(MYH11):c.1017C>T (p.Ser339=)
|
rs112161189
|
0.00014
|
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)
|
rs112948385
|
0.00014
|
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)
|
rs192236678
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_002979.5(SCP2):c.1074C>T (p.Gly358=)
|
rs74638331
|
0.00014
|
NM_002979.5(SCP2):c.15G>T (p.Pro5=)
|
rs147697594
|
0.00014
|
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)
|
rs766925398
|
0.00014
|
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=)
|
rs369436545
|
0.00014
|
NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=)
|
rs201794205
|
0.00014
|
NM_003482.4(KMT2D):c.5319+3G>A
|
rs372897046
|
0.00014
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311
|
0.00014
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_004006.3(DMD):c.1603-4C>A
|
rs377223643
|
0.00014
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
NM_004006.3(DMD):c.4605G>A (p.Thr1535=)
|
rs374871728
|
0.00014
|
NM_004006.3(DMD):c.4876G>A (p.Val1626Met)
|
rs776998846
|
0.00014
|
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val)
|
rs145266970
|
0.00014
|
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
|
rs185706283
|
0.00014
|
NM_004006.3(DMD):c.7578G>A (p.Gln2526=)
|
rs142236825
|
0.00014
|
NM_004098.4(EMX2):c.653G>A (p.Gly218Asp)
|
rs200981903
|
0.00014
|
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)
|
rs374969185
|
0.00014
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
NM_004565.3(PEX14):c.303C>T (p.Pro101=)
|
rs199552789
|
0.00014
|
NM_004595.5(SMS):c.661-5C>T
|
rs371972467
|
0.00014
|
NM_004817.4(TJP2):c.1818G>A (p.Ser606=)
|
rs527789195
|
0.00014
|
NM_004817.4(TJP2):c.375C>T (p.Ala125=)
|
rs181450555
|
0.00014
|
NM_005045.4(RELN):c.3411C>T (p.Gly1137=)
|
rs137974322
|
0.00014
|
NM_005529.7(HSPG2):c.7026C>T (p.Pro2342=)
|
rs182418174
|
0.00014
|
NM_005857.5(ZMPSTE24):c.933A>G (p.Glu311=)
|
rs150740479
|
0.00014
|
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys)
|
rs200138092
|
0.00014
|
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)
|
rs142668478
|
0.00014
|
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu)
|
rs55674815
|
0.00014
|
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe)
|
rs372356069
|
0.00014
|
NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe)
|
rs777744269
|
0.00014
|
NM_012193.4(FZD4):c.205C>T (p.His69Tyr)
|
rs80358282
|
0.00014
|
NM_012254.3(SLC27A5):c.1827G>A (p.Gly609=)
|
rs143397900
|
0.00014
|
NM_014141.6(CNTNAP2):c.3741A>C (p.Pro1247=)
|
rs141772824
|
0.00014
|
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)
|
rs376416252
|
0.00014
|
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)
|
rs181341030
|
0.00014
|
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile)
|
rs374317179
|
0.00014
|
NM_014639.4(SKIC3):c.3603A>G (p.Arg1201=)
|
rs376083373
|
0.00014
|
NM_014795.4(ZEB2):c.1848T>G (p.Pro616=)
|
rs144835963
|
0.00014
|
NM_015102.5(NPHP4):c.3309C>T (p.His1103=)
|
rs200320780
|
0.00014
|
NM_015340.4(LARS2):c.1383T>C (p.Ile461=)
|
rs35347543
|
0.00014
|
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His)
|
rs374247020
|
0.00014
|
NM_016356.5(DCDC2):c.349-9C>G
|
rs765613994
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu)
|
rs527602809
|
0.00014
|
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=)
|
rs148494695
|
0.00014
|
NM_018941.4(CLN8):c.207G>A (p.Thr69=)
|
rs368365607
|
0.00014
|
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln)
|
rs199772480
|
0.00014
|
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=)
|
rs182360785
|
0.00014
|
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met)
|
rs539139475
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00014
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099
|
0.00014
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
NM_024753.5(TTC21B):c.549T>C (p.Gly183=)
|
rs141664029
|
0.00014
|
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu)
|
rs146711478
|
0.00014
|
NM_025193.4(HSD3B7):c.714C>T (p.His238=)
|
rs147510106
|
0.00014
|
NM_030665.4(RAI1):c.1837G>A (p.Gly613Arg)
|
rs200955853
|
0.00014
|
NM_030665.4(RAI1):c.2004C>T (p.Pro668=)
|
rs398124414
|
0.00014
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs)
|
rs398124432
|
0.00014
|
NM_033380.3(COL4A5):c.858T>C (p.Gly286=)
|
rs183837448
|
0.00014
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
NM_057176.3(BSND):c.102C>T (p.Tyr34=)
|
rs141403253
|
0.00014
|
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=)
|
rs140017436
|
0.00014
|
NM_133497.4(KCNV2):c.441C>A (p.Asp147Glu)
|
rs146659188
|
0.00014
|
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=)
|
rs147915980
|
0.00014
|
NM_138694.4(PKHD1):c.977-7C>G
|
rs1054774956
|
0.00014
|
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser)
|
rs369180298
|
0.00014
|
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=)
|
rs371505908
|
0.00014
|
NM_153638.4(PANK2):c.12C>T (p.Leu4=)
|
rs774784800
|
0.00014
|
NM_170699.3(GPBAR1):c.334A>G (p.Met112Val)
|
rs202032682
|
0.00014
|
NM_175875.5(SIX5):c.714C>G (p.Thr238=)
|
rs758444909
|
0.00014
|
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu)
|
rs200909650
|
0.00014
|
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=)
|
rs138650597
|
0.00014
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00014
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00014
|
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)
|
rs200220646
|
0.00014
|
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys)
|
rs781836500
|
0.00014
|
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly)
|
rs368212208
|
0.00014
|
NM_201384.3(PLEC):c.1283C>T (p.Ala428Val)
|
rs200893203
|
0.00014
|
NM_201384.3(PLEC):c.1305G>A (p.Ala435=)
|
rs369877618
|
0.00014
|
NM_201384.3(PLEC):c.13242C>T (p.Arg4414=)
|
rs200589588
|
0.00014
|
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)
|
rs369344419
|
0.00014
|
NM_201384.3(PLEC):c.4587C>T (p.Arg1529=)
|
rs369723574
|
0.00014
|
NM_201384.3(PLEC):c.6399G>A (p.Ala2133=)
|
rs375489890
|
0.00014
|
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)
|
rs373922545
|
0.00014
|
NM_201384.3(PLEC):c.772C>T (p.Leu258=)
|
rs372233686
|
0.00014
|
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=)
|
rs368883473
|
0.00014
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00014
|
NM_207361.6(FREM2):c.9337A>G (p.Thr3113Ala)
|
rs202106776
|
0.00014
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=)
|
rs143735377
|
0.00013
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
NM_000023.4(SGCA):c.408C>T (p.Ala136=)
|
rs143551687
|
0.00013
|
NM_000023.4(SGCA):c.819G>T (p.Pro273=)
|
rs35972733
|
0.00013
|
NM_000026.4(ADSL):c.735A>T (p.Arg245=)
|
rs143977255
|
0.00013
|
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)
|
rs140425651
|
0.00013
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)
|
rs201136122
|
0.00013
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_000141.5(FGFR2):c.568C>T (p.Arg190Trp)
|
rs147987917
|
0.00013
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_000214.3(JAG1):c.526G>A (p.Val176Ile)
|
rs199674138
|
0.00013
|
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=)
|
rs752457145
|
0.00013
|
NM_000255.4(MMUT):c.385+14G>A
|
rs199992904
|
0.00013
|
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=)
|
rs141659629
|
0.00013
|
NM_000295.5(SERPINA1):c.918-4A>G
|
rs367822021
|
0.00013
|
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)
|
rs142954164
|
0.00013
|
NM_000388.4(CASR):c.1287C>T (p.His429=)
|
rs746515147
|
0.00013
|
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys)
|
rs201874841
|
0.00013
|
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)
|
rs372241697
|
0.00013
|
NM_000440.3(PDE6A):c.594G>A (p.Val198=)
|
rs398123394
|
0.00013
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=)
|
rs747062491
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
|
rs45517284
|
0.00013
|
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)
|
rs151227241
|
0.00013
|
NM_000875.5(IGF1R):c.84G>A (p.Thr28=)
|
rs372748482
|
0.00013
|
NM_001031679.3(MSRB3):c.-67G>C
|
rs368104588
|
0.00013
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)
|
rs77473319
|
0.00013
|
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=)
|
rs373906889
|
0.00013
|
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)
|
rs886041302
|
0.00013
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)
|
rs199911951
|
0.00013
|
NM_001110792.2(MECP2):c.897C>T (p.Ala299=)
|
rs139378224
|
0.00013
|
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)
|
rs143815396
|
0.00013
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)
|
rs373772212
|
0.00013
|
NM_001145809.2(MYH14):c.4740C>T (p.Asp1580=)
|
rs751909208
|
0.00013
|
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)
|
rs199710125
|
0.00013
|
NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=)
|
rs369859575
|
0.00013
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)
|
rs200941841
|
0.00013
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
NM_001267550.2(TTN):c.28320C>T (p.Gly9440=)
|
rs375083775
|
0.00013
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=)
|
rs369739111
|
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.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln)
|
rs141142920
|
0.00013
|
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=)
|
rs370292933
|
0.00013
|
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=)
|
rs773886758
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys)
|
rs149660690
|
0.00013
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)
|
rs201422612
|
0.00013
|
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu)
|
rs146636599
|
0.00013
|
NM_001267550.2(TTN):c.86355T>C (p.Asn28785=)
|
rs745857020
|
0.00013
|
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=)
|
rs760858743
|
0.00013
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)
|
rs201019681
|
0.00013
|
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)
|
rs373509153
|
0.00013
|
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)
|
rs80293130
|
0.00013
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)
|
rs147750747
|
0.00013
|
NM_001376256.1(CRYM):c.8G>T (p.Arg3Leu)
|
rs149797560
|
0.00013
|
NM_001379081.2(FREM1):c.3471+9C>T
|
rs377668876
|
0.00013
|
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=)
|
rs138177808
|
0.00013
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)
|
rs145861489
|
0.00013
|
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=)
|
rs111451684
|
0.00013
|
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)
|
rs75581470
|
0.00013
|
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)
|
rs141257132
|
0.00013
|
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)
|
rs201426778
|
0.00013
|
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=)
|
rs146420786
|
0.00013
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00013
|
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=)
|
rs141355337
|
0.00013
|
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)
|
rs374922166
|
0.00013
|
NM_002437.5(MPV17):c.61C>G (p.Leu21Val)
|
rs200504529
|
0.00013
|
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser)
|
rs140662138
|
0.00013
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)
|
rs536108231
|
0.00013
|
NM_003106.4(SOX2):c.54G>C (p.Ser18=)
|
rs757913217
|
0.00013
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)
|
rs141151675
|
0.00013
|
NM_004006.3(DMD):c.7658G>A (p.Arg2553Gln)
|
rs764127932
|
0.00013
|
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg)
|
rs144103124
|
0.00013
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)
|
rs373832446
|
0.00013
|
NM_004006.3(DMD):c.8706G>A (p.Arg2902=)
|
rs899851642
|
0.00013
|
NM_004369.4(COL6A3):c.5501-4C>G
|
rs143237699
|
0.00013
|
NM_004369.4(COL6A3):c.6064-6C>T
|
rs202091342
|
0.00013
|
NM_004380.3(CREBBP):c.4280+8T>C
|
rs376814421
|
0.00013
|
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr)
|
rs559294915
|
0.00013
|
NM_004565.3(PEX14):c.1101C>T (p.Pro367=)
|
rs146053705
|
0.00013
|
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=)
|
rs367977493
|
0.00013
|
NM_005045.4(RELN):c.8634A>G (p.Ser2878=)
|
rs377429197
|
0.00013
|
NM_005476.7(GNE):c.804G>A (p.Lys268=)
|
rs141814943
|
0.00013
|
NM_005477.3(HCN4):c.2025C>T (p.Ala675=)
|
rs149033101
|
0.00013
|
NM_005633.4(SOS1):c.1953A>G (p.Pro651=)
|
rs141507912
|
0.00013
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
NM_006269.2(RP1):c.4299A>G (p.Ala1433=)
|
rs148918111
|
0.00013
|
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
|
rs121918226
|
0.00013
|
NM_006790.3(MYOT):c.342C>T (p.Ser114=)
|
rs34593399
|
0.00013
|
NM_007078.3(LDB3):c.342C>T (p.Asn114=)
|
rs151166414
|
0.00013
|
NM_012254.3(SLC27A5):c.553G>A (p.Val185Ile)
|
rs757127359
|
0.00013
|
NM_012463.4(ATP6V0A2):c.118-7_118-3del
|
rs777322469
|
0.00013
|
NM_013382.7(POMT2):c.1920C>T (p.Gly640=)
|
rs150755807
|
0.00013
|
NM_014141.6(CNTNAP2):c.1777+7G>A
|
rs770951811
|
0.00013
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)
|
rs374354239
|
0.00013
|
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=)
|
rs189186909
|
0.00013
|
NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=)
|
rs140577908
|
0.00013
|
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)
|
rs199794711
|
0.00013
|
NM_017777.4(MKS1):c.1128G>A (p.Thr376=)
|
rs369141016
|
0.00013
|
NM_017780.4(CHD7):c.240G>A (p.Met80Ile)
|
rs199675125
|
0.00013
|
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)
|
rs398124317
|
0.00013
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
NM_018006.5(TRMU):c.1158G>A (p.Leu386=)
|
rs79874854
|
0.00013
|
NM_019098.5(CNGB3):c.1833C>T (p.His611=)
|
rs368787128
|
0.00013
|
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)
|
rs75602337
|
0.00013
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982
|
0.00013
|
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)
|
rs368828743
|
0.00013
|
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=)
|
rs587697719
|
0.00013
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu)
|
rs147523309
|
0.00013
|
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met)
|
rs200237137
|
0.00013
|
NM_025074.7(FRAS1):c.10128C>T (p.His3376=)
|
rs369331788
|
0.00013
|
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg)
|
rs755572135
|
0.00013
|
NM_031220.4(PITPNM3):c.2700C>T (p.Arg900=)
|
rs139901820
|
0.00013
|
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val)
|
rs185971062
|
0.00013
|
NM_032119.4(ADGRV1):c.6229G>A (p.Glu2077Lys)
|
rs200372116
|
0.00013
|
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=)
|
rs375077719
|
0.00013
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00013
|
NM_053025.4(MYLK):c.2629G>A (p.Val877Met)
|
rs34542174
|
0.00013
|
NM_057176.3(BSND):c.16A>G (p.Thr6Ala)
|
rs201342416
|
0.00013
|
NM_138927.4(SON):c.5200G>A (p.Val1734Met)
|
rs146053621
|
0.00013
|
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)
|
rs771623461
|
0.00013
|
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser)
|
rs751334184
|
0.00013
|
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)
|
rs141263831
|
0.00013
|
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)
|
rs141170182
|
0.00013
|
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=)
|
rs375826346
|
0.00013
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
0.00013
|
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu)
|
rs77146441
|
0.00013
|
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=)
|
rs564245730
|
0.00013
|
NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met)
|
rs369522291
|
0.00013
|
NM_201384.3(PLEC):c.7193G>A (p.Arg2398His)
|
rs368343687
|
0.00013
|
NM_201384.3(PLEC):c.7194C>T (p.Arg2398=)
|
rs541134948
|
0.00013
|
NM_201384.3(PLEC):c.897G>A (p.Thr299=)
|
rs377035835
|
0.00013
|
NM_201384.3(PLEC):c.9294C>T (p.Ala3098=)
|
rs376753842
|
0.00013
|
NM_203475.3(PORCN):c.288C>T (p.Gly96=)
|
rs200263603
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=)
|
rs368327746
|
0.00013
|
NM_207361.6(FREM2):c.6743-9C>T
|
rs749834830
|
0.00013
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_000067.3(CA2):c.35-7C>A
|
rs371766356
|
0.00012
|
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)
|
rs147808529
|
0.00012
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
NM_000260.4(MYO7A):c.4441+7C>T
|
rs372493678
|
0.00012
|
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=)
|
rs200569112
|
0.00012
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=)
|
rs201212360
|
0.00012
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)
|
rs62642481
|
0.00012
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=)
|
rs780292269
|
0.00012
|
NM_001077365.2(POMT1):c.568C>T (p.Leu190=)
|
rs752931210
|
0.00012
|
NM_001080476.3(GRXCR1):c.753C>T (p.Ser251=)
|
rs374667597
|
0.00012
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
NM_001127649.3(PEX26):c.668-5G>T
|
rs767742108
|
0.00012
|
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)
|
rs201460699
|
0.00012
|
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr)
|
rs144499152
|
0.00012
|
NM_001145809.2(MYH14):c.4445G>A (p.Arg1482Gln)
|
rs746594902
|
0.00012
|
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=)
|
rs139309224
|
0.00012
|
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser)
|
rs565638291
|
0.00012
|
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr)
|
rs374631591
|
0.00012
|
NM_001267550.2(TTN):c.14746A>G (p.Lys4916Glu)
|
rs376597173
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)
|
rs146219199
|
0.00012
|
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)
|
rs371495674
|
0.00012
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val)
|
rs182720979
|
0.00012
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
NM_001267550.2(TTN):c.39045G>C (p.Val13015=)
|
rs192464868
|
0.00012
|
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)
|
rs2303830
|
0.00012
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00012
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00012
|
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His)
|
rs201774108
|
0.00012
|
NM_001267550.2(TTN):c.56850G>A (p.Val18950=)
|
rs368068200
|
0.00012
|
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr)
|
rs78509062
|
0.00012
|
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser)
|
rs372802352
|
0.00012
|
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile)
|
rs371286595
|
0.00012
|
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)
|
rs397517667
|
0.00012
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001267550.2(TTN):c.85275T>C (p.Thr28425=)
|
rs376484117
|
0.00012
|
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met)
|
rs201998913
|
0.00012
|
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser)
|
rs373722546
|
0.00012
|
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)
|
rs775591945
|
0.00012
|
NM_001267550.2(TTN):c.92402C>T (p.Ala30801Val)
|
rs372570504
|
0.00012
|
NM_001291867.2(NHS):c.1143C>T (p.Cys381=)
|
rs727504042
|
0.00012
|
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)
|
rs144878564
|
0.00012
|
NM_001351132.2(PEX5):c.753+10T>C
|
rs373242881
|
0.00012
|
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)
|
rs375993195
|
0.00012
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)
|
rs145037203
|
0.00012
|
NM_001429.4(EP300):c.2787A>G (p.Ala929=)
|
rs143690368
|
0.00012
|
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=)
|
rs550889206
|
0.00012
|
NM_002547.3(OPHN1):c.1184A>G (p.Asn395Ser)
|
rs150084635
|
0.00012
|
NM_002693.3(POLG):c.1389G>A (p.Leu463=)
|
rs150828914
|
0.00012
|
NM_002979.5(SCP2):c.1469-10T>C
|
rs761545816
|
0.00012
|
NM_003049.4(SLC10A1):c.877C>G (p.Gln293Glu)
|
rs189313778
|
0.00012
|
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala)
|
rs543241831
|
0.00012
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00012
|
NM_003742.4(ABCB11):c.2757C>A (p.Thr919=)
|
rs374465656
|
0.00012
|
NM_003742.4(ABCB11):c.48G>A (p.Glu16=)
|
rs768192083
|
0.00012
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)
|
rs72466581
|
0.00012
|
NM_004006.3(DMD):c.9033G>A (p.Pro3011=)
|
rs774722438
|
0.00012
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00012
|
NM_004260.4(RECQL4):c.2464-1G>C
|
rs398124117
|
0.00012
|
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=)
|
rs200098134
|
0.00012
|
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=)
|
rs141775567
|
0.00012
|
NM_004393.6(DAG1):c.286-10del
|
rs747305463
|
0.00012
|
NM_004530.6(MMP2):c.380+10C>T
|
rs545069128
|
0.00012
|
NM_004560.4(ROR2):c.2286G>A (p.Ser762=)
|
rs143759440
|
0.00012
|
NM_004817.4(TJP2):c.1656A>G (p.Gly552=)
|
rs150723764
|
0.00012
|
NM_005249.5(FOXG1):c.*4C>T
|
rs774917687
|
0.00012
|
NM_005477.3(HCN4):c.621C>G (p.Arg207=)
|
rs727503958
|
0.00012
|
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)
|
rs147147660
|
0.00012
|
NM_006015.6(ARID1A):c.1175C>A (p.Pro392His)
|
rs199906671
|
0.00012
|
NM_006302.3(MOGS):c.249C>G (p.Ala83=)
|
rs764778419
|
0.00012
|
NM_006306.4(SMC1A):c.861G>A (p.Lys287=)
|
rs782543093
|
0.00012
|
NM_006383.4(CIB2):c.192G>A (p.Glu64=)
|
rs145415848
|
0.00012
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00012
|
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg)
|
rs199789331
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)
|
rs147693839
|
0.00012
|
NM_015102.5(NPHP4):c.279+6C>T
|
rs199856317
|
0.00012
|
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=)
|
rs766575963
|
0.00012
|
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)
|
rs374963946
|
0.00012
|
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)
|
rs146933218
|
0.00012
|
NM_017777.4(MKS1):c.515+8C>T
|
rs376823839
|
0.00012
|
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)
|
rs377723386
|
0.00012
|
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=)
|
rs534427466
|
0.00012
|
NM_018389.5(SLC35C1):c.663G>A (p.Pro221=)
|
rs111773874
|
0.00012
|
NM_018699.4(PRDM5):c.1605C>T (p.His535=)
|
rs150476884
|
0.00012
|
NM_020754.4(ARHGAP31):c.499G>A (p.Ala167Thr)
|
rs139733647
|
0.00012
|
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=)
|
rs371135108
|
0.00012
|
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val)
|
rs376362072
|
0.00012
|
NM_024301.5(FKRP):c.954C>T (p.Cys318=)
|
rs755968761
|
0.00012
|
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=)
|
rs374224226
|
0.00012
|
NM_025074.7(FRAS1):c.2862G>A (p.Thr954=)
|
rs144065807
|
0.00012
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=)
|
rs372350188
|
0.00012
|
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg)
|
rs760510612
|
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_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)
|
rs376709130
|
0.00012
|
NM_153603.4(COG7):c.2013G>A (p.Leu671=)
|
rs370447404
|
0.00012
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00012
|
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=)
|
rs377113267
|
0.00012
|
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln)
|
rs375724891
|
0.00012
|
NM_201384.3(PLEC):c.13470C>T (p.Arg4490=)
|
rs531535217
|
0.00012
|
NM_201384.3(PLEC):c.3287G>A (p.Arg1096His)
|
rs375617818
|
0.00012
|
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu)
|
rs376494828
|
0.00012
|
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp)
|
rs201278290
|
0.00012
|
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg)
|
rs373741981
|
0.00012
|
NM_207361.6(FREM2):c.1737C>T (p.Ile579=)
|
rs144811771
|
0.00012
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
NM_000057.4(BLM):c.1086C>T (p.Asp362=)
|
rs375632163
|
0.00011
|
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)
|
rs370231427
|
0.00011
|
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=)
|
rs141733086
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)
|
rs56005131
|
0.00011
|
NM_000137.4(FAH):c.870C>T (p.Asp290=)
|
rs377480457
|
0.00011
|
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)
|
rs372430349
|
0.00011
|
NM_000214.3(JAG1):c.1146C>T (p.Asn382=)
|
rs200133928
|
0.00011
|
NM_000214.3(JAG1):c.2286C>T (p.Asn762=)
|
rs144190443
|
0.00011
|
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr)
|
rs150811951
|
0.00011
|
NM_000230.3(LEP):c.21C>T (p.Cys7=)
|
rs201523305
|
0.00011
|
NM_000231.3(SGCG):c.102C>T (p.Arg34=)
|
rs140810408
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=)
|
rs374289523
|
0.00011
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
NM_000266.4(NDP):c.11A>T (p.His4Leu)
|
rs149708528
|
0.00011
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=)
|
rs777356809
|
0.00011
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)
|
rs113817720
|
0.00011
|
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met)
|
rs72552401
|
0.00011
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln)
|
rs142288050
|
0.00011
|
NM_000372.5(TYR):c.1161T>C (p.Leu387=)
|
rs141967840
|
0.00011
|
NM_000388.4(CASR):c.854G>A (p.Arg285Gln)
|
rs200039241
|
0.00011
|
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)
|
rs372564255
|
0.00011
|
NM_000392.5(ABCC2):c.763C>T (p.Arg255Trp)
|
rs147494662
|
0.00011
|
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)
|
rs771922933
|
0.00011
|
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)
|
rs776616540
|
0.00011
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_000458.4(HNF1B):c.420C>T (p.Val140=)
|
rs370134885
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000503.6(EYA1):c.325T>C (p.Tyr109His)
|
rs141779040
|
0.00011
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=)
|
rs202160739
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)
|
rs149476159
|
0.00011
|
NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg)
|
rs113794453
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)
|
rs201963596
|
0.00011
|
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)
|
rs370111593
|
0.00011
|
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)
|
rs141035459
|
0.00011
|
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=)
|
rs140209484
|
0.00011
|
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)
|
rs561321743
|
0.00011
|
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=)
|
rs377063535
|
0.00011
|
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756
|
0.00011
|
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)
|
rs200916353
|
0.00011
|
NM_001077365.2(POMT1):c.921G>T (p.Leu307=)
|
rs371243573
|
0.00011
|
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=)
|
rs761842188
|
0.00011
|
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=)
|
rs763209907
|
0.00011
|
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=)
|
rs201153928
|
0.00011
|
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
|
rs369806785
|
0.00011
|
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=)
|
rs753786462
|
0.00011
|
NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr)
|
rs144393784
|
0.00011
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=)
|
rs374616425
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)
|
rs150556863
|
0.00011
|
NM_001130987.2(DYSF):c.2864+8G>A
|
rs371686795
|
0.00011
|
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=)
|
rs748427000
|
0.00011
|
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)
|
rs145662732
|
0.00011
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
|
rs148442069
|
0.00011
|
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)
|
rs201905405
|
0.00011
|
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=)
|
rs587780850
|
0.00011
|
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His)
|
rs201611496
|
0.00011
|
NM_001191061.2(SLC25A22):c.834C>T (p.His278=)
|
rs187824231
|
0.00011
|
NM_001195248.2(APTX):c.762G>A (p.Pro254=)
|
rs571475924
|
0.00011
|
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=)
|
rs781723084
|
0.00011
|
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)
|
rs377171054
|
0.00011
|
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)
|
rs727504609
|
0.00011
|
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
|
rs200716018
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr)
|
rs375577529
|
0.00011
|
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)
|
rs376037792
|
0.00011
|
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)
|
rs367821526
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.19715-4A>G
|
rs375009631
|
0.00011
|
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala)
|
rs138750421
|
0.00011
|
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu)
|
rs201945791
|
0.00011
|
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro)
|
rs181395238
|
0.00011
|
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)
|
rs369095270
|
0.00011
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)
|
rs773035917
|
0.00011
|
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)
|
rs200732032
|
0.00011
|
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)
|
rs201693851
|
0.00011
|
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)
|
rs200155485
|
0.00011
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)
|
rs751354601
|
0.00011
|
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)
|
rs374492812
|
0.00011
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)
|
rs779064962
|
0.00011
|
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=)
|
rs189790119
|
0.00011
|
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys)
|
rs185887755
|
0.00011
|
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)
|
rs72648234
|
0.00011
|
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn)
|
rs376679796
|
0.00011
|
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)
|
rs373900294
|
0.00011
|
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)
|
rs368932767
|
0.00011
|
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)
|
rs372611171
|
0.00011
|
NM_001267550.2(TTN):c.94980A>G (p.Glu31660=)
|
rs370769662
|
0.00011
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys)
|
rs186244950
|
0.00011
|
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)
|
rs374295768
|
0.00011
|
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)
|
rs372302484
|
0.00011
|
NM_001287.6(CLCN7):c.1137C>T (p.Ile379=)
|
rs749315456
|
0.00011
|
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg)
|
rs780411290
|
0.00011
|
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=)
|
rs373448935
|
0.00011
|
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=)
|
rs147580960
|
0.00011
|
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)
|
rs770649913
|
0.00011
|
NM_001351132.2(PEX5):c.258C>T (p.Asp86=)
|
rs144351488
|
0.00011
|
NM_001371928.1(AHDC1):c.2438G>A (p.Arg813His)
|
rs138299564
|
0.00011
|
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg)
|
rs763275881
|
0.00011
|
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=)
|
rs768337150
|
0.00011
|
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val)
|
rs137878385
|
0.00011
|
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)
|
rs556542553
|
0.00011
|
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met)
|
rs201617511
|
0.00011
|
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=)
|
rs760768642
|
0.00011
|
NM_001848.3(COL6A1):c.726C>T (p.Asn242=)
|
rs142102852
|
0.00011
|
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)
|
rs142021066
|
0.00011
|
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=)
|
rs532522222
|
0.00011
|
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)
|
rs556385546
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_001966.4(EHHADH):c.1563G>A (p.Val521=)
|
rs138858065
|
0.00011
|
NM_001966.4(EHHADH):c.621C>G (p.Pro207=)
|
rs139788883
|
0.00011
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_002506.3(NGF):c.191C>T (p.Ala64Val)
|
rs201087374
|
0.00011
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)
|
rs199593058
|
0.00011
|
NM_003482.4(KMT2D):c.2547G>A (p.Ser849=)
|
rs398123738
|
0.00011
|
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr)
|
rs199831827
|
0.00011
|
NM_003611.3(OFD1):c.936-2A>G
|
rs199902986
|
0.00011
|
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941
|
0.00011
|
NM_003742.4(ABCB11):c.235G>A (p.Val79Met)
|
rs371965391
|
0.00011
|
NM_003742.4(ABCB11):c.3411+9C>T
|
rs201287126
|
0.00011
|
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln)
|
rs768165720
|
0.00011
|
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr)
|
rs192004962
|
0.00011
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met)
|
rs115297652
|
0.00011
|
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=)
|
rs116541926
|
0.00011
|
NM_004369.4(COL6A3):c.843G>T (p.Val281=)
|
rs376201065
|
0.00011
|
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)
|
rs183247300
|
0.00011
|
NM_004560.4(ROR2):c.2466C>T (p.Asn822=)
|
rs146432734
|
0.00011
|
NM_004625.4(WNT7A):c.399C>T (p.Cys133=)
|
rs367697256
|
0.00011
|
NM_004643.4(PABPN1):c.787C>A (p.Arg263=)
|
rs886044639
|
0.00011
|
NM_004817.4(TJP2):c.1506T>C (p.Asp502=)
|
rs139354927
|
0.00011
|
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile)
|
rs189443180
|
0.00011
|
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)
|
rs761806977
|
0.00011
|
NM_005379.4(MYO1A):c.1961G>A (p.Arg654Gln)
|
rs147147276
|
0.00011
|
NM_005379.4(MYO1A):c.92G>A (p.Arg31His)
|
rs727504447
|
0.00011
|
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)
|
rs199638531
|
0.00011
|
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=)
|
rs749785521
|
0.00011
|
NM_005529.7(HSPG2):c.2766C>G (p.Leu922=)
|
rs375290305
|
0.00011
|
NM_005529.7(HSPG2):c.5628A>G (p.Thr1876=)
|
rs368047383
|
0.00011
|
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys)
|
rs143177272
|
0.00011
|
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)
|
rs121918342
|
0.00011
|
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=)
|
rs727504109
|
0.00011
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
NM_006790.3(MYOT):c.594G>A (p.Val198=)
|
rs372287923
|
0.00011
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)
|
rs56195342
|
0.00011
|
NM_007317.3(KIF22):c.549+8C>A
|
rs374331057
|
0.00011
|
NM_012210.4(TRIM32):c.330A>G (p.Gln110=)
|
rs770015462
|
0.00011
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
NM_014714.4(IFT140):c.3874-10A>C
|
rs761503137
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_014780.5(CUL7):c.3834C>T (p.Gly1278=)
|
rs141756281
|
0.00011
|
NM_015404.4(WHRN):c.2112G>T (p.Leu704=)
|
rs535492772
|
0.00011
|
NM_017739.4(POMGNT1):c.652+6G>A
|
rs369289384
|
0.00011
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_018136.5(ASPM):c.1185A>G (p.Gln395=)
|
rs183395856
|
0.00011
|
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)
|
rs563858170
|
0.00011
|
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)
|
rs201041864
|
0.00011
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=)
|
rs143678590
|
0.00011
|
NM_022124.6(CDH23):c.1450-4G>A
|
rs374549358
|
0.00011
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
NM_022437.3(ABCG8):c.1212-7T>A
|
rs759300542
|
0.00011
|
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=)
|
rs369736263
|
0.00011
|
NM_022437.3(ABCG8):c.546C>T (p.Ala182=)
|
rs774395087
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)
|
rs369891453
|
0.00011
|
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn)
|
rs540121859
|
0.00011
|
NM_025193.4(HSD3B7):c.7G>A (p.Asp3Asn)
|
rs200555135
|
0.00011
|
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=)
|
rs144290584
|
0.00011
|
NM_031433.4(MFRP):c.159T>C (p.Gly53=)
|
rs372897338
|
0.00011
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)
|
rs373354231
|
0.00011
|
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg)
|
rs201480340
|
0.00011
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys)
|
rs372400654
|
0.00011
|
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)
|
rs200389929
|
0.00011
|
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)
|
rs200241260
|
0.00011
|
NM_032119.4(ADGRV1):c.9631T>C (p.Ser3211Pro)
|
rs766184763
|
0.00011
|
NM_078470.6(COX15):c.396-3C>G
|
rs200910834
|
0.00011
|
NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=)
|
rs746019545
|
0.00011
|
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=)
|
rs199635188
|
0.00011
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_145239.3(PRRT2):c.879+6C>A
|
rs201887920
|
0.00011
|
NM_153033.5(KCTD7):c.621C>A (p.Leu207=)
|
rs376944331
|
0.00011
|
NM_170699.3(GPBAR1):c.333C>T (p.Tyr111=)
|
rs201129128
|
0.00011
|
NM_170707.4(LMNA):c.1314G>A (p.Gly438=)
|
rs774817302
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_172107.4(KCNQ2):c.1301+7C>T
|
rs374877247
|
0.00011
|
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=)
|
rs3810472
|
0.00011
|
NM_172364.5(CACNA2D4):c.1807-4del
|
rs756122685
|
0.00011
|
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu)
|
rs369968343
|
0.00011
|
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=)
|
rs142327194
|
0.00011
|
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)
|
rs77853132
|
0.00011
|
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)
|
rs756300560
|
0.00011
|
NM_201384.3(PLEC):c.10743C>T (p.Gly3581=)
|
rs375573910
|
0.00011
|
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)
|
rs782756146
|
0.00011
|
NM_201384.3(PLEC):c.2064G>A (p.Pro688=)
|
rs374590279
|
0.00011
|
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=)
|
rs576688705
|
0.00011
|
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)
|
rs200618217
|
0.00011
|
NM_201384.3(PLEC):c.7926G>A (p.Pro2642=)
|
rs201098035
|
0.00011
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00011
|
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)
|
rs138879998
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
NM_000138.5(FBN1):c.2892C>T (p.Asp964=)
|
rs116945525
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000153.4(GALC):c.195G>C (p.Gly65=)
|
rs886042057
|
0.00010
|
NM_000163.5(GHR):c.195A>G (p.Ser65=)
|
rs140501920
|
0.00010
|
NM_000163.5(GHR):c.585A>G (p.Gln195=)
|
rs6413483
|
0.00010
|
NM_000208.4(INSR):c.1665T>C (p.Ser555=)
|
rs149795690
|
0.00010
|
NM_000214.3(JAG1):c.2917-7G>A
|
rs201573066
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000303.3(PMM2):c.441C>T (p.Leu147=)
|
rs146990448
|
0.00010
|
NM_000337.6(SGCD):c.394G>A (p.Val132Ile)
|
rs367819390
|
0.00010
|
NM_000337.6(SGCD):c.793G>A (p.Val265Ile)
|
rs772185467
|
0.00010
|
NM_000384.3(APOB):c.8661T>C (p.Thr2887=)
|
rs144023029
|
0.00010
|
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile)
|
rs17222589
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000452.3(SLC10A2):c.654C>T (p.Ser218=)
|
rs140050923
|
0.00010
|
NM_000489.6(ATRX):c.831C>T (p.Val277=)
|
rs142561199
|
0.00010
|
NM_000514.4(GDNF):c.138G>A (p.Ala46=)
|
rs375385439
|
0.00010
|
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)
|
rs151251082
|
0.00010
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)
|
rs141298868
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr)
|
rs376573446
|
0.00010
|
NM_000553.6(WRN):c.2067C>T (p.Ser689=)
|
rs191757062
|
0.00010
|
NM_000717.5(CA4):c.923C>A (p.Ala308Asp)
|
rs201580764
|
0.00010
|
NM_000719.7(CACNA1C):c.4624-8G>A
|
rs529345041
|
0.00010
|
NM_000751.3(CHRND):c.1125G>A (p.Val375=)
|
rs143246852
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=)
|
rs148875137
|
0.00010
|
NM_001015877.2(PHF6):c.414C>T (p.Ser138=)
|
rs200423380
|
0.00010
|
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile)
|
rs201790782
|
0.00010
|
NM_001034853.2(RPGR):c.36T>G (p.Gly12=)
|
rs769123303
|
0.00010
|
NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu)
|
rs139234053
|
0.00010
|
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)
|
rs149534277
|
0.00010
|
NM_001077365.2(POMT1):c.330C>G (p.Leu110=)
|
rs138064523
|
0.00010
|
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)
|
rs200363918
|
0.00010
|
NM_001110556.2(FLNA):c.6227-7C>T
|
rs370491691
|
0.00010
|
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=)
|
rs376461465
|
0.00010
|
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=)
|
rs369179210
|
0.00010
|
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala)
|
rs61748422
|
0.00010
|
NM_001123385.2(BCOR):c.837C>T (p.Leu279=)
|
rs753531268
|
0.00010
|
NM_001127644.2(GABRA1):c.*2T>A
|
rs762836110
|
0.00010
|
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=)
|
rs370455274
|
0.00010
|
NM_001128178.3(NPHP1):c.*1C>T
|
rs376898832
|
0.00010
|
NM_001128840.3(CACNA1D):c.3115-3C>T
|
rs779910083
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=)
|
rs61736948
|
0.00010
|
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127
|
0.00010
|
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=)
|
rs398123600
|
0.00010
|
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)
|
rs199887745
|
0.00010
|
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=)
|
rs368975126
|
0.00010
|
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)
|
rs372521529
|
0.00010
|
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)
|
rs369896045
|
0.00010
|
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)
|
rs377337528
|
0.00010
|
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys)
|
rs727504586
|
0.00010
|
NM_001267550.2(TTN):c.12957G>A (p.Ala4319=)
|
rs762330685
|
0.00010
|
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)
|
rs201506104
|
0.00010
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
NM_001267550.2(TTN):c.13479T>G (p.Pro4493=)
|
rs368698752
|
0.00010
|
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln)
|
rs200792058
|
0.00010
|
NM_001267550.2(TTN):c.1815T>C (p.Thr605=)
|
rs757604614
|
0.00010
|
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)
|
rs370109572
|
0.00010
|
NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met)
|
rs200359082
|
0.00010
|
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)
|
rs369544339
|
0.00010
|
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)
|
rs371512914
|
0.00010
|
NM_001267550.2(TTN):c.3864T>G (p.Ala1288=)
|
rs368702156
|
0.00010
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)
|
rs201857541
|
0.00010
|
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)
|
rs369709751
|
0.00010
|
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)
|
rs372633280
|
0.00010
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)
|
rs727504190
|
0.00010
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn)
|
rs192962624
|
0.00010
|
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)
|
rs148920986
|
0.00010
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
NM_001267550.2(TTN):c.77706C>T (p.Asp25902=)
|
rs375764395
|
0.00010
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val)
|
rs199592861
|
0.00010
|
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)
|
rs55803460
|
0.00010
|
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)
|
rs557097410
|
0.00010
|
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=)
|
rs267600357
|
0.00010
|
NM_001369268.1(ACAN):c.894C>T (p.Ser298=)
|
rs576947078
|
0.00010
|
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)
|
rs35546990
|
0.00010
|
NM_001378414.1(HDAC4):c.2346C>T (p.Cys782=)
|
rs144099208
|
0.00010
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00010
|
NM_001414.4(EIF2B1):c.735C>T (p.Asp245=)
|
rs776489281
|
0.00010
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)
|
rs762625409
|
0.00010
|
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)
|
rs144136807
|
0.00010
|
NM_001849.4(COL6A2):c.189G>A (p.Thr63=)
|
rs143583433
|
0.00010
|
NM_001851.6(COL9A1):c.462A>G (p.Val154=)
|
rs150571620
|
0.00010
|
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)
|
rs140608161
|
0.00010
|
NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser)
|
rs150744159
|
0.00010
|
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe)
|
rs147618989
|
0.00010
|
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala)
|
rs753002290
|
0.00010
|
NM_002397.5(MEF2C):c.180C>T (p.Thr60=)
|
rs773278207
|
0.00010
|
NM_002473.6(MYH9):c.2679C>A (p.Thr893=)
|
rs145476120
|
0.00010
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_002768.5(CHMP1A):c.147C>T (p.Ala49=)
|
rs200606123
|
0.00010
|
NM_003392.7(WNT5A):c.427G>A (p.Ala143Thr)
|
rs998033323
|
0.00010
|
NM_003482.4(KMT2D):c.2206C>T (p.Pro736Ser)
|
rs552543556
|
0.00010
|
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)
|
rs200488448
|
0.00010
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_004006.3(DMD):c.3432+10A>G
|
rs746260475
|
0.00010
|
NM_004006.3(DMD):c.606C>T (p.Ile202=)
|
rs138335295
|
0.00010
|
NM_004006.3(DMD):c.7323T>C (p.Thr2441=)
|
rs201919981
|
0.00010
|
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)
|
rs116239777
|
0.00010
|
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=)
|
rs202086524
|
0.00010
|
NM_004369.4(COL6A3):c.543T>C (p.Asp181=)
|
rs898779231
|
0.00010
|
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)
|
rs146546544
|
0.00010
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
NM_004493.3(HSD17B10):c.147C>G (p.Ala49=)
|
rs367982176
|
0.00010
|
NM_004817.4(TJP2):c.2961G>A (p.Pro987=)
|
rs371617466
|
0.00010
|
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr)
|
rs144396411
|
0.00010
|
NM_005045.4(RELN):c.5274G>T (p.Ala1758=)
|
rs139102992
|
0.00010
|
NM_005148.4(UNC119):c.600C>T (p.Ser200=)
|
rs142549864
|
0.00010
|
NM_005249.5(FOXG1):c.594C>G (p.Pro198=)
|
rs141088742
|
0.00010
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=)
|
rs753875974
|
0.00010
|
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln)
|
rs201503338
|
0.00010
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
NM_014208.3(DSPP):c.2874T>C (p.Asn958=)
|
rs374607352
|
0.00010
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
0.00010
|
NM_014918.5(CHSY1):c.489G>A (p.Lys163=)
|
rs146047900
|
0.00010
|
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu)
|
rs200005095
|
0.00010
|
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=)
|
rs369717113
|
0.00010
|
NM_017534.6(MYH2):c.1959G>A (p.Val653=)
|
rs376346567
|
0.00010
|
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg)
|
rs200907656
|
0.00010
|
NM_018668.5(VPS33B):c.1105+10G>A
|
rs370555380
|
0.00010
|
NM_020754.4(ARHGAP31):c.2216C>T (p.Pro739Leu)
|
rs200598971
|
0.00010
|
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=)
|
rs757811625
|
0.00010
|
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)
|
rs186866326
|
0.00010
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
NM_022436.3(ABCG5):c.300C>G (p.Ser100=)
|
rs1212418813
|
0.00010
|
NM_022464.5(SIL1):c.849C>T (p.Leu283=)
|
rs372816951
|
0.00010
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=)
|
rs782101275
|
0.00010
|
NM_025074.7(FRAS1):c.237T>C (p.Ala79=)
|
rs370345916
|
0.00010
|
NM_025074.7(FRAS1):c.4729A>T (p.Thr1577Ser)
|
rs183594682
|
0.00010
|
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)
|
rs189308547
|
0.00010
|
NM_031433.4(MFRP):c.1256-4G>A
|
rs142533439
|
0.00010
|
NM_032119.4(ADGRV1):c.12373A>G (p.Ile4125Val)
|
rs766991551
|
0.00010
|
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu)
|
rs190427962
|
0.00010
|
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His)
|
rs199798095
|
0.00010
|
NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys)
|
rs142905845
|
0.00010
|
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe)
|
rs141681122
|
0.00010
|
NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)
|
rs373070679
|
0.00010
|
NM_080916.3(DGUOK):c.-1G>A
|
rs754623273
|
0.00010
|
NM_080916.3(DGUOK):c.60G>A (p.Lys20=)
|
rs961313523
|
0.00010
|
NM_133379.5(TTN):c.11169G>A (p.Thr3723=)
|
rs145004106
|
0.00010
|
NM_133497.4(KCNV2):c.168G>A (p.Glu56=)
|
rs201975160
|
0.00010
|
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His)
|
rs141177165
|
0.00010
|
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)
|
rs148497044
|
0.00010
|
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)
|
rs750190287
|
0.00010
|
NM_139343.3(BIN1):c.942C>T (p.His314=)
|
rs370911793
|
0.00010
|
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln)
|
rs781994662
|
0.00010
|
NM_178138.6(LHX3):c.198C>G (p.Ala66=)
|
rs190916587
|
0.00010
|
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=)
|
rs201715967
|
0.00010
|
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=)
|
rs200002217
|
0.00010
|
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)
|
rs149272010
|
0.00010
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)
|
rs142676206
|
0.00010
|
NM_198506.5(LRIT3):c.710G>A (p.Arg237His)
|
rs150750727
|
0.00010
|
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)
|
rs537994918
|
0.00010
|
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr)
|
rs782767733
|
0.00010
|
NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu)
|
rs781985768
|
0.00010
|
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)
|
rs573424409
|
0.00010
|
NM_201384.3(PLEC):c.2458-7G>A
|
rs372799330
|
0.00010
|
NM_201384.3(PLEC):c.6657C>T (p.Ala2219=)
|
rs762600030
|
0.00010
|
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)
|
rs149506333
|
0.00010
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)
|
rs138444697
|
0.00010
|
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=)
|
rs116763572
|
0.00010
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)
|
rs199501657
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)
|
rs202210810
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)
|
rs886043191
|
0.00009
|
NM_000080.4(CHRNE):c.465C>T (p.Phe155=)
|
rs139625105
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln)
|
rs398123531
|
0.00009
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
NM_000214.3(JAG1):c.1335G>A (p.Gln445=)
|
rs759545669
|
0.00009
|
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)
|
rs199505265
|
0.00009
|
NM_000231.3(SGCG):c.506-7T>G
|
rs774582375
|
0.00009
|
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=)
|
rs201171029
|
0.00009
|
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=)
|
rs781964494
|
0.00009
|
NM_000260.4(MYO7A):c.3750+7G>A
|
rs397516305
|
0.00009
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
|
rs190540405
|
0.00009
|
NM_000388.4(CASR):c.114T>C (p.Phe38=)
|
rs61733590
|
0.00009
|
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)
|
rs17222547
|
0.00009
|
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=)
|
rs150472537
|
0.00009
|
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=)
|
rs142671449
|
0.00009
|
NM_000428.3(LTBP2):c.1686+8C>G
|
rs563097395
|
0.00009
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_000452.3(SLC10A2):c.363C>T (p.Gly121=)
|
rs143992162
|
0.00009
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
NM_000458.4(HNF1B):c.1654-9T>A
|
rs200579660
|
0.00009
|
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)
|
rs191471887
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000492.4(CFTR):c.3718-24G>A
|
rs374013084
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000515.5(GH1):c.387C>T (p.Tyr129=)
|
rs370785603
|
0.00009
|
NM_000541.5(SAG):c.474A>G (p.Thr158=)
|
rs886042737
|
0.00009
|
NM_000541.5(SAG):c.843G>A (p.Thr281=)
|
rs374774483
|
0.00009
|
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=)
|
rs137854000
|
0.00009
|
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)
|
rs147147042
|
0.00009
|
NM_000601.6(HGF):c.270T>C (p.Asp90=)
|
rs145598174
|
0.00009
|
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=)
|
rs377643814
|
0.00009
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)
|
rs563090568
|
0.00009
|
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly)
|
rs549476254
|
0.00009
|
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=)
|
rs369079645
|
0.00009
|
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=)
|
rs121912253
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=)
|
rs367546924
|
0.00009
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr)
|
rs148972050
|
0.00009
|
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile)
|
rs61753966
|
0.00009
|
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)
|
rs61750243
|
0.00009
|
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=)
|
rs782536136
|
0.00009
|
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)
|
rs551380805
|
0.00009
|
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)
|
rs765051582
|
0.00009
|
NM_001127649.3(PEX26):c.33C>G (p.Pro11=)
|
rs199668827
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=)
|
rs779993051
|
0.00009
|
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)
|
rs146687581
|
0.00009
|
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)
|
rs201476613
|
0.00009
|
NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr)
|
rs143163327
|
0.00009
|
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)
|
rs376293526
|
0.00009
|
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)
|
rs201028196
|
0.00009
|
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His)
|
rs756818874
|
0.00009
|
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala)
|
rs727504067
|
0.00009
|
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=)
|
rs141430143
|
0.00009
|
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=)
|
rs760557332
|
0.00009
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=)
|
rs186672543
|
0.00009
|
NM_001206979.2(NR1H4):c.795C>T (p.Asn265=)
|
rs147030757
|
0.00009
|
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)
|
rs139805921
|
0.00009
|
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln)
|
rs139484231
|
0.00009
|
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn)
|
rs374663693
|
0.00009
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu)
|
rs777547090
|
0.00009
|
NM_001267550.2(TTN):c.13458C>T (p.Asp4486=)
|
rs748885610
|
0.00009
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)
|
rs370208081
|
0.00009
|
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)
|
rs143030869
|
0.00009
|
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=)
|
rs267599069
|
0.00009
|
NM_001267550.2(TTN):c.16581C>T (p.Val5527=)
|
rs373179717
|
0.00009
|
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)
|
rs200984007
|
0.00009
|
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)
|
rs72648945
|
0.00009
|
NM_001267550.2(TTN):c.186C>T (p.Arg62=)
|
rs528853682
|
0.00009
|
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile)
|
rs371267140
|
0.00009
|
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)
|
rs752620885
|
0.00009
|
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)
|
rs144639994
|
0.00009
|
NM_001267550.2(TTN):c.25145G>A (p.Arg8382His)
|
rs199598066
|
0.00009
|
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=)
|
rs372320172
|
0.00009
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu)
|
rs72647861
|
0.00009
|
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)
|
rs371163094
|
0.00009
|
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=)
|
rs762141482
|
0.00009
|
NM_001267550.2(TTN):c.30619C>G (p.Pro10207Ala)
|
rs781304514
|
0.00009
|
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)
|
rs182934463
|
0.00009
|
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His)
|
rs368777046
|
0.00009
|
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)
|
rs199561793
|
0.00009
|
NM_001267550.2(TTN):c.39166G>T (p.Val13056Leu)
|
rs727504201
|
0.00009
|
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met)
|
rs766145596
|
0.00009
|
NM_001267550.2(TTN):c.41019G>A (p.Pro13673=)
|
rs762470432
|
0.00009
|
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)
|
rs375474669
|
0.00009
|
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=)
|
rs369959066
|
0.00009
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr)
|
rs766391823
|
0.00009
|
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)
|
rs368988689
|
0.00009
|
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)
|
rs370450339
|
0.00009
|
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)
|
rs369678018
|
0.00009
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)
|
rs368425364
|
0.00009
|
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)
|
rs727503603
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)
|
rs374914334
|
0.00009
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00009
|
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)
|
rs368924655
|
0.00009
|
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile)
|
rs72646892
|
0.00009
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr)
|
rs759110420
|
0.00009
|
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)
|
rs534003014
|
0.00009
|
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His)
|
rs764254441
|
0.00009
|
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val)
|
rs142391957
|
0.00009
|
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=)
|
rs200992636
|
0.00009
|
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)
|
rs199501185
|
0.00009
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)
|
rs771635198
|
0.00009
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile)
|
rs375533809
|
0.00009
|
NM_001271.4(CHD2):c.753A>G (p.Glu251=)
|
rs368486032
|
0.00009
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
NM_001277313.2(FMN1):c.2044-1533T>G
|
rs200018358
|
0.00009
|
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=)
|
rs370811549
|
0.00009
|
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)
|
rs138243167
|
0.00009
|
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)
|
rs777517985
|
0.00009
|
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=)
|
rs147850435
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro)
|
rs577419060
|
0.00009
|
NM_001374385.1(ATP8B1):c.903G>A (p.Arg301=)
|
rs762363452
|
0.00009
|
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala)
|
rs756608508
|
0.00009
|
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)
|
rs549757247
|
0.00009
|
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter)
|
rs377708973
|
0.00009
|
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr)
|
rs775475186
|
0.00009
|
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)
|
rs201465430
|
0.00009
|
NM_001379081.2(FREM1):c.261C>T (p.Asn87=)
|
rs370943663
|
0.00009
|
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg)
|
rs370556388
|
0.00009
|
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)
|
rs150784450
|
0.00009
|
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=)
|
rs749182319
|
0.00009
|
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys)
|
rs144969169
|
0.00009
|
NM_001429.4(EP300):c.1572G>A (p.Thr524=)
|
rs746398873
|
0.00009
|
NM_001429.4(EP300):c.3591-6C>T
|
rs368437789
|
0.00009
|
NM_001429.4(EP300):c.6315C>T (p.Gly2105=)
|
rs528866215
|
0.00009
|
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys)
|
rs201643277
|
0.00009
|
NM_001614.5(ACTG1):c.231C>T (p.Thr77=)
|
rs375450454
|
0.00009
|
NM_001692.4(ATP6V1B1):c.669C>T (p.Ile223=)
|
rs372233648
|
0.00009
|
NM_001793.6(CDH3):c.2364C>T (p.Asp788=)
|
rs144637479
|
0.00009
|
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)
|
rs146288748
|
0.00009
|
NM_001849.4(COL6A2):c.1458+9_1458+14del
|
rs762583937
|
0.00009
|
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=)
|
rs144516266
|
0.00009
|
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=)
|
rs199501232
|
0.00009
|
NM_001849.4(COL6A2):c.999+10G>T
|
rs376378709
|
0.00009
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00009
|
NM_001953.5(TYMP):c.-4A>G
|
rs571316178
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_002693.3(POLG):c.1842C>T (p.Tyr614=)
|
rs62640033
|
0.00009
|
NM_002693.3(POLG):c.2220C>T (p.Asn740=)
|
rs141538857
|
0.00009
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_002968.3(SALL1):c.2373C>A (p.Gly791=)
|
rs377295510
|
0.00009
|
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu)
|
rs587778453
|
0.00009
|
NM_003742.4(ABCB11):c.1055G>A (p.Gly352Glu)
|
rs201351924
|
0.00009
|
NM_003816.3(ADAM9):c.540G>A (p.Lys180=)
|
rs186443262
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004006.3(DMD):c.530+7A>T
|
rs72470523
|
0.00009
|
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)
|
rs757394130
|
0.00009
|
NM_004006.3(DMD):c.9888C>T (p.Pro3296=)
|
rs146543659
|
0.00009
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00009
|
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn)
|
rs763162762
|
0.00009
|
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val)
|
rs200239695
|
0.00009
|
NM_004369.4(COL6A3):c.6157-4T>G
|
rs536696110
|
0.00009
|
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=)
|
rs201479636
|
0.00009
|
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)
|
rs369459749
|
0.00009
|
NM_004380.3(CREBBP):c.681T>C (p.Pro227=)
|
rs201193684
|
0.00009
|
NM_004393.6(DAG1):c.2349T>C (p.Leu783=)
|
rs201280782
|
0.00009
|
NM_004447.6(EPS8):c.1822A>C (p.Lys608Gln)
|
rs200844984
|
0.00009
|
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg)
|
rs149272208
|
0.00009
|
NM_004519.4(KCNQ3):c.954C>A (p.Gly318=)
|
rs143224896
|
0.00009
|
NM_004530.6(MMP2):c.932C>T (p.Thr311Met)
|
rs572726028
|
0.00009
|
NM_004656.4(BAP1):c.186C>T (p.Val62=)
|
rs199608453
|
0.00009
|
NM_004698.4(PRPF3):c.957T>C (p.Pro319=)
|
rs199721048
|
0.00009
|
NM_004813.4(PEX16):c.262G>A (p.Val88Met)
|
rs567165324
|
0.00009
|
NM_004817.4(TJP2):c.1953G>T (p.Gly651=)
|
rs750134026
|
0.00009
|
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=)
|
rs189900453
|
0.00009
|
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly)
|
rs184810732
|
0.00009
|
NM_005477.3(HCN4):c.1815G>A (p.Thr605=)
|
rs367753936
|
0.00009
|
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)
|
rs117157204
|
0.00009
|
NM_005529.7(HSPG2):c.1086G>A (p.Lys362=)
|
rs189837148
|
0.00009
|
NM_005529.7(HSPG2):c.2124C>T (p.Ser708=)
|
rs139220302
|
0.00009
|
NM_005529.7(HSPG2):c.8076C>T (p.Gly2692=)
|
rs372321167
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005802.5(TOPORS):c.2314C>T (p.Leu772=)
|
rs371017482
|
0.00009
|
NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala)
|
rs746320974
|
0.00009
|
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)
|
rs201614853
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_006005.3(WFS1):c.173C>T (p.Ala58Val)
|
rs369671890
|
0.00009
|
NM_006019.4(TCIRG1):c.2119-10C>T
|
rs377606178
|
0.00009
|
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile)
|
rs112633352
|
0.00009
|
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=)
|
rs202139170
|
0.00009
|
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=)
|
rs150413453
|
0.00009
|
NM_006941.4(SOX10):c.574G>A (p.Gly192Ser)
|
rs200475773
|
0.00009
|
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)
|
rs536758576
|
0.00009
|
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu)
|
rs377248579
|
0.00009
|
NM_007126.5(VCP):c.1875G>T (p.Arg625=)
|
rs201410035
|
0.00009
|
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=)
|
rs372857848
|
0.00009
|
NM_012301.4(MAGI2):c.1737C>T (p.Asp579=)
|
rs142555732
|
0.00009
|
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=)
|
rs139445683
|
0.00009
|
NM_014319.5(LEMD3):c.282C>G (p.Val94=)
|
rs867412512
|
0.00009
|
NM_014363.6(SACS):c.1255A>G (p.Ile419Val)
|
rs767818359
|
0.00009
|
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00009
|
NM_014795.4(ZEB2):c.3219C>T (p.His1073=)
|
rs139944383
|
0.00009
|
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=)
|
rs185162256
|
0.00009
|
NM_015166.4(MLC1):c.93C>T (p.Asp31=)
|
rs199625892
|
0.00009
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
0.00009
|
NM_015311.3(OBSL1):c.342C>T (p.Ala114=)
|
rs760053992
|
0.00009
|
NM_015311.3(OBSL1):c.993C>A (p.Ala331=)
|
rs771686909
|
0.00009
|
NM_015338.6(ASXL1):c.2387G>C (p.Trp796Ser)
|
rs770674396
|
0.00009
|
NM_015629.4(PRPF31):c.1374+9C>T
|
rs727504108
|
0.00009
|
NM_016239.4(MYO15A):c.6764+2T>A
|
rs763975867
|
0.00009
|
NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu)
|
rs745333409
|
0.00009
|
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=)
|
rs369070550
|
0.00009
|
NM_017777.4(MKS1):c.516-10T>C
|
rs375046501
|
0.00009
|
NM_018006.5(TRMU):c.351T>C (p.Asn117=)
|
rs117710834
|
0.00009
|
NM_018136.5(ASPM):c.2994G>A (p.Pro998=)
|
rs554545885
|
0.00009
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
NM_019066.5(MAGEL2):c.474A>G (p.Pro158=)
|
rs750481560
|
0.00009
|
NM_020822.3(KCNT1):c.2008+10G>C
|
rs752453368
|
0.00009
|
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=)
|
rs376314779
|
0.00009
|
NM_020822.3(KCNT1):c.981G>A (p.Ser327=)
|
rs373317695
|
0.00009
|
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter)
|
rs536555705
|
0.00009
|
NM_022124.6(CDH23):c.2394C>T (p.Thr798=)
|
rs373269394
|
0.00009
|
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr)
|
rs369395479
|
0.00009
|
NM_022356.4(P3H1):c.327C>T (p.Phe109=)
|
rs370773974
|
0.00009
|
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)
|
rs117221284
|
0.00009
|
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr)
|
rs143585233
|
0.00009
|
NM_023110.3(FGFR1):c.1978-8del
|
rs112311314
|
0.00009
|
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)
|
rs145566650
|
0.00009
|
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)
|
rs192003514
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala)
|
rs398124408
|
0.00009
|
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys)
|
rs373269573
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_025193.4(HSD3B7):c.*1C>T
|
rs781013516
|
0.00009
|
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)
|
rs780569649
|
0.00009
|
NM_030662.4(MAP2K2):c.919+4C>T
|
rs763424788
|
0.00009
|
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)
|
rs375062187
|
0.00009
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=)
|
rs371154816
|
0.00009
|
NM_133379.5(TTN):c.13746A>G (p.Gln4582=)
|
rs201945197
|
0.00009
|
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=)
|
rs146702130
|
0.00009
|
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)
|
rs140608845
|
0.00009
|
NM_138694.4(PKHD1):c.282-3C>T
|
rs535210707
|
0.00009
|
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=)
|
rs571966529
|
0.00009
|
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)
|
rs146531432
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=)
|
rs777017196
|
0.00009
|
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
|
rs760710708
|
0.00009
|
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
|
rs371508721
|
0.00009
|
NM_144508.5(KNL1):c.606C>T (p.Ser202=)
|
rs776234628
|
0.00009
|
NM_147127.5(EVC2):c.765C>T (p.Asn255=)
|
rs139129327
|
0.00009
|
NM_152564.5(VPS13B):c.7780-19C>T
|
rs199981958
|
0.00009
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
NM_170699.3(GPBAR1):c.-1G>A
|
rs200558126
|
0.00009
|
NM_172364.5(CACNA2D4):c.1968C>T (p.His656=)
|
rs200706568
|
0.00009
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=)
|
rs186839881
|
0.00009
|
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=)
|
rs192936944
|
0.00009
|
NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=)
|
rs148606479
|
0.00009
|
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=)
|
rs749509412
|
0.00009
|
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln)
|
rs141800430
|
0.00009
|
NM_198525.3(KIF7):c.72A>C (p.Pro24=)
|
rs773325406
|
0.00009
|
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val)
|
rs532234200
|
0.00009
|
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)
|
rs372840016
|
0.00009
|
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)
|
rs369497741
|
0.00009
|
NM_201384.3(PLEC):c.113-6C>T
|
rs782235036
|
0.00009
|
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=)
|
rs559510708
|
0.00009
|
NM_201384.3(PLEC):c.12564C>T (p.Gly4188=)
|
rs140191309
|
0.00009
|
NM_201384.3(PLEC):c.12783C>T (p.Ala4261=)
|
rs377524932
|
0.00009
|
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys)
|
rs782026068
|
0.00009
|
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)
|
rs781878105
|
0.00009
|
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)
|
rs201922111
|
0.00009
|
NM_201384.3(PLEC):c.792C>T (p.Arg264=)
|
rs782391508
|
0.00009
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln)
|
rs780020144
|
0.00009
|
NM_213599.3(ANO5):c.1332+8A>G
|
rs368857740
|
0.00009
|
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)
|
rs139618850
|
0.00009
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
NM_000092.5(COL4A4):c.1460-6G>A
|
rs771213140
|
0.00008
|
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)
|
rs56010818
|
0.00008
|
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=)
|
rs375921453
|
0.00008
|
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=)
|
rs758618182
|
0.00008
|
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln)
|
rs758163128
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000168.6(GLI3):c.1182A>G (p.Pro394=)
|
rs748606221
|
0.00008
|
NM_000168.6(GLI3):c.363C>T (p.His121=)
|
rs150295615
|
0.00008
|
NM_000208.4(INSR):c.2256C>G (p.Ala752=)
|
rs376497490
|
0.00008
|
NM_000235.4(LIPA):c.483T>C (p.Asn161=)
|
rs369755163
|
0.00008
|
NM_000271.5(NPC1):c.2911+10C>T
|
rs370382673
|
0.00008
|
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)
|
rs150602021
|
0.00008
|
NM_000346.4(SOX9):c.685+7C>T
|
rs370951695
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr)
|
rs765695557
|
0.00008
|
NM_000377.3(WAS):c.264C>T (p.Tyr88=)
|
rs150520117
|
0.00008
|
NM_000377.3(WAS):c.285G>A (p.Leu95=)
|
rs781799471
|
0.00008
|
NM_000426.4(LAMA2):c.6345C>T (p.Pro2115=)
|
rs200364660
|
0.00008
|
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=)
|
rs368458295
|
0.00008
|
NM_000444.6(PHEX):c.1917C>A (p.Thr639=)
|
rs201343697
|
0.00008
|
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)
|
rs145678415
|
0.00008
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)
|
rs371831239
|
0.00008
|
NM_000843.4(GRM6):c.588C>T (p.Pro196=)
|
rs756171835
|
0.00008
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser)
|
rs186535459
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=)
|
rs767592553
|
0.00008
|
NM_001048166.1(STIL):c.2259C>G (p.Ser753=)
|
rs774035449
|
0.00008
|
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)
|
rs139660235
|
0.00008
|
NM_001083961.2(WDR62):c.4122C>T (p.Gly1374=)
|
rs773948810
|
0.00008
|
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)
|
rs587781033
|
0.00008
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00008
|
NM_001127671.2(LIFR):c.2937G>A (p.Ser979=)
|
rs201711670
|
0.00008
|
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys)
|
rs769094437
|
0.00008
|
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys)
|
rs372779649
|
0.00008
|
NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=)
|
rs150359172
|
0.00008
|
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)
|
rs775539496
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001134407.3(GRIN2A):c.4330G>A (p.Val1444Ile)
|
rs150574045
|
0.00008
|
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser)
|
rs143693526
|
0.00008
|
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=)
|
rs764548516
|
0.00008
|
NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=)
|
rs188105111
|
0.00008
|
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)
|
rs370869383
|
0.00008
|
NM_001242957.3(MAK):c.492-4A>G
|
rs540144059
|
0.00008
|
NM_001267550.2(TTN):c.104640G>A (p.Glu34880=)
|
rs373134178
|
0.00008
|
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)
|
rs200782068
|
0.00008
|
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)
|
rs373655492
|
0.00008
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00008
|
NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala)
|
rs549598246
|
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.20465A>G (p.Asn6822Ser)
|
rs371518764
|
0.00008
|
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)
|
rs372264428
|
0.00008
|
NM_001267550.2(TTN):c.2760C>T (p.His920=)
|
rs138788406
|
0.00008
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)
|
rs532102837
|
0.00008
|
NM_001267550.2(TTN):c.3813T>C (p.Leu1271=)
|
rs773274762
|
0.00008
|
NM_001267550.2(TTN):c.39709+9G>C
|
rs765647346
|
0.00008
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)
|
rs202141158
|
0.00008
|
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)
|
rs200410212
|
0.00008
|
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)
|
rs772677752
|
0.00008
|
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln)
|
rs55853138
|
0.00008
|
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His)
|
rs561977468
|
0.00008
|
NM_001267550.2(TTN):c.80859G>A (p.Thr26953=)
|
rs771257647
|
0.00008
|
NM_001267550.2(TTN):c.8184C>T (p.Val2728=)
|
rs753356474
|
0.00008
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)
|
rs201463708
|
0.00008
|
NM_001267550.2(TTN):c.99582G>A (p.Pro33194=)
|
rs777730098
|
0.00008
|
NM_001287.6(CLCN7):c.1155C>T (p.Gly385=)
|
rs771365308
|
0.00008
|
NM_001292063.2(OTOG):c.450A>G (p.Thr150=)
|
rs779238030
|
0.00008
|
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=)
|
rs199714221
|
0.00008
|
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=)
|
rs201212909
|
0.00008
|
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile)
|
rs141840001
|
0.00008
|
NM_001376256.1(CRYM):c.474G>A (p.Gln158=)
|
rs371633413
|
0.00008
|
NM_001378615.1(CC2D2A):c.1017+1G>A
|
rs200407856
|
0.00008
|
NM_001378615.1(CC2D2A):c.881-8C>T
|
rs114387988
|
0.00008
|
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met)
|
rs369043488
|
0.00008
|
NM_001429.4(EP300):c.6729C>T (p.Gly2243=)
|
rs765194008
|
0.00008
|
NM_001458.5(FLNC):c.2040C>T (p.Thr680=)
|
rs368121231
|
0.00008
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
NM_001793.6(CDH3):c.2475C>T (p.Gly825=)
|
rs543214840
|
0.00008
|
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=)
|
rs145023922
|
0.00008
|
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys)
|
rs781229123
|
0.00008
|
NM_001848.3(COL6A1):c.2464+9C>T
|
rs368651226
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_001849.4(COL6A2):c.2301C>T (p.His767=)
|
rs138371054
|
0.00008
|
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)
|
rs184896618
|
0.00008
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239
|
0.00008
|
NM_002397.5(MEF2C):c.363C>T (p.Asn121=)
|
rs186648089
|
0.00008
|
NM_002427.4(MMP13):c.443T>A (p.Val148Glu)
|
rs374419716
|
0.00008
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00008
|
NM_002546.4(TNFRSF11B):c.69G>A (p.Thr23=)
|
rs146450643
|
0.00008
|
NM_002693.3(POLG):c.1977C>T (p.His659=)
|
rs62640030
|
0.00008
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=)
|
rs139188627
|
0.00008
|
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His)
|
rs770522446
|
0.00008
|
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=)
|
rs1014304470
|
0.00008
|
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=)
|
rs375137002
|
0.00008
|
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)
|
rs28936704
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu)
|
rs141261536
|
0.00008
|
NM_004006.3(DMD):c.8829G>A (p.Thr2943=)
|
rs150766816
|
0.00008
|
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile)
|
rs137910388
|
0.00008
|
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)
|
rs200433282
|
0.00008
|
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=)
|
rs587781011
|
0.00008
|
NM_004560.4(ROR2):c.1565G>A (p.Arg522Gln)
|
rs201986784
|
0.00008
|
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=)
|
rs535511484
|
0.00008
|
NM_005045.4(RELN):c.2637C>T (p.Val879=)
|
rs544717229
|
0.00008
|
NM_005476.7(GNE):c.1412-5C>T
|
rs369078814
|
0.00008
|
NM_005476.7(GNE):c.165-9C>T
|
rs760509369
|
0.00008
|
NM_005529.7(HSPG2):c.4413C>T (p.Pro1471=)
|
rs376929779
|
0.00008
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_006017.3(PROM1):c.321A>C (p.Ala107=)
|
rs371975235
|
0.00008
|
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)
|
rs543099977
|
0.00008
|
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=)
|
rs761995771
|
0.00008
|
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=)
|
rs572222540
|
0.00008
|
NM_006059.4(LAMC3):c.4068G>A (p.Ala1356=)
|
rs377618961
|
0.00008
|
NM_006261.5(PROP1):c.423C>T (p.Ala141=)
|
rs200977367
|
0.00008
|
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)
|
rs201989024
|
0.00008
|
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala)
|
rs751529827
|
0.00008
|
NM_007126.5(VCP):c.1194+3G>A
|
rs183223259
|
0.00008
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_014780.5(CUL7):c.4482C>T (p.Ser1494=)
|
rs760462179
|
0.00008
|
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)
|
rs372430727
|
0.00008
|
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met)
|
rs201074950
|
0.00008
|
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)
|
rs375493384
|
0.00008
|
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)
|
rs754142876
|
0.00008
|
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)
|
rs200589374
|
0.00008
|
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala)
|
rs200277422
|
0.00008
|
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=)
|
rs373869399
|
0.00008
|
NM_018668.5(VPS33B):c.177+5T>A
|
rs747146575
|
0.00008
|
NM_018941.4(CLN8):c.522C>T (p.Cys174=)
|
rs148417620
|
0.00008
|
NM_020223.4(FAM20C):c.174C>A (p.Pro58=)
|
rs567930512
|
0.00008
|
NM_020779.4(WDR35):c.2109T>G (p.Thr703=)
|
rs201822027
|
0.00008
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
NM_021167.5(GATAD1):c.558G>A (p.Thr186=)
|
rs141932124
|
0.00008
|
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=)
|
rs369131115
|
0.00008
|
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=)
|
rs145754381
|
0.00008
|
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro)
|
rs769576789
|
0.00008
|
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)
|
rs137852989
|
0.00008
|
NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)
|
rs144411000
|
0.00008
|
NM_022437.3(ABCG8):c.694+5G>C
|
rs557890655
|
0.00008
|
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
|
rs398124386
|
0.00008
|
NM_024301.5(FKRP):c.54T>A (p.Leu18=)
|
rs565563742
|
0.00008
|
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr)
|
rs199565938
|
0.00008
|
NM_025074.7(FRAS1):c.1503C>T (p.Asp501=)
|
rs370655417
|
0.00008
|
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)
|
rs760192112
|
0.00008
|
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)
|
rs369717492
|
0.00008
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu)
|
rs373354100
|
0.00008
|
NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr)
|
rs375911119
|
0.00008
|
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly)
|
rs775641112
|
0.00008
|
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln)
|
rs562658562
|
0.00008
|
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala)
|
rs200760091
|
0.00008
|
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr)
|
rs201955337
|
0.00008
|
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=)
|
rs35403035
|
0.00008
|
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=)
|
rs142922408
|
0.00008
|
NM_138694.4(PKHD1):c.708-5C>T
|
rs371844893
|
0.00008
|
NM_138694.4(PKHD1):c.880+5C>T
|
rs759601015
|
0.00008
|
NM_139058.3(ARX):c.1269C>T (p.His423=)
|
rs794727656
|
0.00008
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_173477.5(USH1G):c.491G>C (p.Arg164Pro)
|
rs144633924
|
0.00008
|
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=)
|
rs780644969
|
0.00008
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00008
|
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)
|
rs118022241
|
0.00008
|
NM_194248.3(OTOF):c.843C>T (p.Asp281=)
|
rs368728682
|
0.00008
|
NM_201384.3(PLEC):c.1506G>C (p.Gln502His)
|
rs571497788
|
0.00008
|
NM_201384.3(PLEC):c.1650C>T (p.Ser550=)
|
rs541271992
|
0.00008
|
NM_201384.3(PLEC):c.2829G>A (p.Ala943=)
|
rs369370495
|
0.00008
|
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=)
|
rs782222671
|
0.00008
|
NM_201384.3(PLEC):c.5469C>T (p.Asp1823=)
|
rs771101893
|
0.00008
|
NM_201384.3(PLEC):c.5879G>A (p.Arg1960His)
|
rs367679924
|
0.00008
|
NM_201384.3(PLEC):c.933C>T (p.Phe311=)
|
rs369363676
|
0.00008
|
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr)
|
rs200680102
|
0.00008
|
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met)
|
rs201349099
|
0.00008
|
NM_205850.3(SLC24A5):c.534G>A (p.Ala178=)
|
rs138902406
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg)
|
rs376983577
|
0.00008
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000117.3(EMD):c.12C>T (p.Tyr4=)
|
rs782011714
|
0.00007
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
NM_000141.5(FGFR2):c.2124C>T (p.Pro708=)
|
rs140813163
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000257.4(MYH7):c.114C>T (p.Phe38=)
|
rs146210693
|
0.00007
|
NM_000260.4(MYO7A):c.5480+10G>A
|
rs768513428
|
0.00007
|
NM_000283.4(PDE6B):c.1258-10T>A
|
rs727504074
|
0.00007
|
NM_000297.4(PKD2):c.1549-4T>C
|
rs374450718
|
0.00007
|
NM_000337.6(SGCD):c.402T>C (p.Ala134=)
|
rs190935424
|
0.00007
|
NM_000360.4(TH):c.645C>T (p.His215=)
|
rs768037080
|
0.00007
|
NM_000362.5(TIMP3):c.321C>T (p.Arg107=)
|
rs145553035
|
0.00007
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
NM_000383.4(AIRE):c.564C>G (p.Val188=)
|
rs201650973
|
0.00007
|
NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile)
|
rs370049107
|
0.00007
|
NM_000392.5(ABCC2):c.99G>A (p.Val33=)
|
rs376241522
|
0.00007
|
NM_000435.3(NOTCH3):c.1469G>C (p.Gly490Ala)
|
rs374248747
|
0.00007
|
NM_000443.4(ABCB4):c.524C>T (p.Thr175Met)
|
rs746166913
|
0.00007
|
NM_000452.3(SLC10A2):c.870G>A (p.Pro290=)
|
rs370310605
|
0.00007
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
NM_000540.3(RYR1):c.10032C>T (p.Pro3344=)
|
rs376687300
|
0.00007
|
NM_000540.3(RYR1):c.12847G>A (p.Glu4283Lys)
|
rs794728692
|
0.00007
|
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)
|
rs143418190
|
0.00007
|
NM_000541.5(SAG):c.357G>A (p.Thr119=)
|
rs757487948
|
0.00007
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)
|
rs139929314
|
0.00007
|
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile)
|
rs147075806
|
0.00007
|
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr)
|
rs141774517
|
0.00007
|
NM_000744.7(CHRNA4):c.1494C>T (p.Ala498=)
|
rs137860047
|
0.00007
|
NM_000780.4(CYP7A1):c.1215+8C>T
|
rs368417648
|
0.00007
|
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=)
|
rs777499631
|
0.00007
|
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)
|
rs376373313
|
0.00007
|
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)
|
rs142540289
|
0.00007
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00007
|
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)
|
rs727503930
|
0.00007
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)
|
rs143876280
|
0.00007
|
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)
|
rs61750246
|
0.00007
|
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser)
|
rs797044752
|
0.00007
|
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=)
|
rs781940286
|
0.00007
|
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)
|
rs371972266
|
0.00007
|
NM_001130823.3(DNMT1):c.327C>T (p.Asn109=)
|
rs144685297
|
0.00007
|
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)
|
rs147244033
|
0.00007
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys)
|
rs371391349
|
0.00007
|
NM_001193315.2(VIPAS39):c.78C>T (p.Asp26=)
|
rs112217896
|
0.00007
|
NM_001267550.2(TTN):c.104298T>C (p.Ala34766=)
|
rs751788327
|
0.00007
|
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=)
|
rs372312805
|
0.00007
|
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)
|
rs727503652
|
0.00007
|
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)
|
rs369947439
|
0.00007
|
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)
|
rs201229221
|
0.00007
|
NM_001267550.2(TTN):c.33340+5A>C
|
rs373367032
|
0.00007
|
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)
|
rs571348685
|
0.00007
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)
|
rs373316165
|
0.00007
|
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)
|
rs727503604
|
0.00007
|
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=)
|
rs371155050
|
0.00007
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)
|
rs375000725
|
0.00007
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
NM_001267550.2(TTN):c.69660A>G (p.Ala23220=)
|
rs371996901
|
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.72824A>T (p.Lys24275Ile)
|
rs199860952
|
0.00007
|
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met)
|
rs144398602
|
0.00007
|
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)
|
rs370810609
|
0.00007
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)
|
rs199532781
|
0.00007
|
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)
|
rs397517775
|
0.00007
|
NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter)
|
rs763001827
|
0.00007
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)
|
rs148468879
|
0.00007
|
NM_001360.3(DHCR7):c.855C>T (p.Phe285=)
|
rs781026169
|
0.00007
|
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His)
|
rs567038987
|
0.00007
|
NM_001367721.1(CASK):c.1669-8C>G
|
rs201327474
|
0.00007
|
NM_001374385.1(ATP8B1):c.2904C>T (p.Tyr968=)
|
rs376358532
|
0.00007
|
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=)
|
rs375278294
|
0.00007
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=)
|
rs762143074
|
0.00007
|
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=)
|
rs367625071
|
0.00007
|
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=)
|
rs61735832
|
0.00007
|
NM_001849.4(COL6A2):c.981C>T (p.Asn327=)
|
rs768836349
|
0.00007
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
NM_001966.4(EHHADH):c.713A>T (p.Gln238Leu)
|
rs200753408
|
0.00007
|
NM_002335.4(LRP5):c.996C>T (p.Asn332=)
|
rs956302502
|
0.00007
|
NM_002473.6(MYH9):c.5151-4G>A
|
rs368125656
|
0.00007
|
NM_002691.4(POLD1):c.1503C>T (p.Asn501=)
|
rs371647100
|
0.00007
|
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg)
|
rs368587966
|
0.00007
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
NM_002906.4(RDX):c.777A>G (p.Pro259=)
|
rs142773831
|
0.00007
|
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=)
|
rs143637930
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_003392.7(WNT5A):c.819G>A (p.Ala273=)
|
rs200583587
|
0.00007
|
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys)
|
rs201283589
|
0.00007
|
NM_003482.4(KMT2D):c.1112+19C>T
|
rs398123703
|
0.00007
|
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=)
|
rs376227770
|
0.00007
|
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro)
|
rs200998047
|
0.00007
|
NM_003491.4(NAA10):c.564G>A (p.Pro188=)
|
rs150971216
|
0.00007
|
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg)
|
rs199781957
|
0.00007
|
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala)
|
rs368996545
|
0.00007
|
NM_004006.3(DMD):c.1704+3G>A
|
rs773123973
|
0.00007
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
NM_004006.3(DMD):c.3450G>A (p.Glu1150=)
|
rs142967431
|
0.00007
|
NM_004006.3(DMD):c.4721G>A (p.Arg1574His)
|
rs755206033
|
0.00007
|
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr)
|
rs377412251
|
0.00007
|
NM_004006.3(DMD):c.863G>C (p.Arg288Thr)
|
rs767304770
|
0.00007
|
NM_004006.3(DMD):c.9093C>T (p.Val3031=)
|
rs72466563
|
0.00007
|
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)
|
rs201718067
|
0.00007
|
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His)
|
rs782413552
|
0.00007
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=)
|
rs141280228
|
0.00007
|
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)
|
rs148023511
|
0.00007
|
NM_004380.3(CREBBP):c.3982+10G>A
|
rs370093745
|
0.00007
|
NM_004385.5(VCAN):c.9454C>G (p.Leu3152Val)
|
rs183984308
|
0.00007
|
NM_004393.6(DAG1):c.183T>C (p.Val61=)
|
rs775928044
|
0.00007
|
NM_004463.3(FGD1):c.440G>A (p.Arg147His)
|
rs200707592
|
0.00007
|
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)
|
rs767474960
|
0.00007
|
NM_004560.4(ROR2):c.2628G>A (p.Thr876=)
|
rs369201767
|
0.00007
|
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly)
|
rs201120958
|
0.00007
|
NM_004817.4(TJP2):c.2034C>T (p.Asn678=)
|
rs373160031
|
0.00007
|
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu)
|
rs142847960
|
0.00007
|
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)
|
rs200737038
|
0.00007
|
NM_005529.7(HSPG2):c.13098C>T (p.Pro4366=)
|
rs759562639
|
0.00007
|
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn)
|
rs201831309
|
0.00007
|
NM_006005.3(WFS1):c.726C>T (p.Ile242=)
|
rs71524381
|
0.00007
|
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=)
|
rs151180675
|
0.00007
|
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)
|
rs138527421
|
0.00007
|
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=)
|
rs755298136
|
0.00007
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
NM_006662.3(SRCAP):c.2892G>A (p.Leu964=)
|
rs556745550
|
0.00007
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_012210.4(TRIM32):c.238C>T (p.Leu80=)
|
rs760820148
|
0.00007
|
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)
|
rs150047440
|
0.00007
|
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser)
|
rs149360738
|
0.00007
|
NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr)
|
rs375090704
|
0.00007
|
NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val)
|
rs369520528
|
0.00007
|
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=)
|
rs139130605
|
0.00007
|
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=)
|
rs199793164
|
0.00007
|
NM_017777.4(MKS1):c.468C>T (p.Val156=)
|
rs199684837
|
0.00007
|
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser)
|
rs147164392
|
0.00007
|
NM_018451.5(CPAP):c.3663G>A (p.Pro1221=)
|
rs200291056
|
0.00007
|
NM_018965.4(TREM2):c.407G>A (p.Arg136Gln)
|
rs149622783
|
0.00007
|
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala)
|
rs199919912
|
0.00007
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
NM_022124.6(CDH23):c.996G>A (p.Thr332=)
|
rs727504715
|
0.00007
|
NM_022437.3(ABCG8):c.351G>A (p.Val117=)
|
rs41281459
|
0.00007
|
NM_022437.3(ABCG8):c.450C>T (p.His150=)
|
rs200013237
|
0.00007
|
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=)
|
rs780742937
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_025193.4(HSD3B7):c.1047G>C (p.Ser349=)
|
rs746926891
|
0.00007
|
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu)
|
rs775231187
|
0.00007
|
NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met)
|
rs199715642
|
0.00007
|
NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu)
|
rs373868639
|
0.00007
|
NM_032119.4(ADGRV1):c.2991T>C (p.Ile997=)
|
rs570773279
|
0.00007
|
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=)
|
rs373667458
|
0.00007
|
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg)
|
rs201615936
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)
|
rs370328225
|
0.00007
|
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)
|
rs147576338
|
0.00007
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
NM_145200.5(CABP4):c.579G>A (p.Leu193=)
|
rs139392451
|
0.00007
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
NM_170707.4(LMNA):c.1530C>T (p.Thr510=)
|
rs138098342
|
0.00007
|
NM_181303.2(NLGN3):c.282G>A (p.Ser94=)
|
rs143817848
|
0.00007
|
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr)
|
rs200997641
|
0.00007
|
NM_182914.3(SYNE2):c.3326G>A (p.Ser1109Asn)
|
rs150464227
|
0.00007
|
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)
|
rs763930147
|
0.00007
|
NM_182961.4(SYNE1):c.17347-6C>T
|
rs201692248
|
0.00007
|
NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=)
|
rs942245024
|
0.00007
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)
|
rs201392317
|
0.00007
|
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=)
|
rs371204427
|
0.00007
|
NM_182961.4(SYNE1):c.2991G>A (p.Leu997=)
|
rs1014746277
|
0.00007
|
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)
|
rs200276242
|
0.00007
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
|
rs553968087
|
0.00007
|
NM_201384.3(PLEC):c.12255C>T (p.Asp4085=)
|
rs782193445
|
0.00007
|
NM_201384.3(PLEC):c.2178+10G>A
|
rs781817693
|
0.00007
|
NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln)
|
rs534045685
|
0.00007
|
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=)
|
rs370347438
|
0.00007
|
NM_201384.3(PLEC):c.8481C>T (p.Asp2827=)
|
rs377660488
|
0.00007
|
NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys)
|
rs377748878
|
0.00007
|
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln)
|
rs368318946
|
0.00007
|
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=)
|
rs750789180
|
0.00007
|
NM_207346.3(TSEN54):c.468+8C>T
|
rs117456384
|
0.00007
|
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)
|
rs199804735
|
0.00006
|
NM_000035.4(ALDOB):c.1000-3T>C
|
rs369238799
|
0.00006
|
NM_000038.6(APC):c.1005A>G (p.Leu335=)
|
rs3797704
|
0.00006
|
NM_000038.6(APC):c.2250A>T (p.Pro750=)
|
rs376526724
|
0.00006
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)
|
rs55833327
|
0.00006
|
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=)
|
rs141934227
|
0.00006
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=)
|
rs372450879
|
0.00006
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr)
|
rs368500877
|
0.00006
|
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=)
|
rs200620805
|
0.00006
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
NM_000102.4(CYP17A1):c.1524C>T (p.Thr508=)
|
rs145067399
|
0.00006
|
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp)
|
rs59086055
|
0.00006
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00006
|
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu)
|
rs144995231
|
0.00006
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)
|
rs141471799
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
NM_000208.4(INSR):c.3042C>T (p.Asp1014=)
|
rs369686949
|
0.00006
|
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu)
|
rs201785359
|
0.00006
|
NM_000214.3(JAG1):c.204C>T (p.Arg68=)
|
rs565407240
|
0.00006
|
NM_000214.3(JAG1):c.2298T>C (p.Phe766=)
|
rs771544217
|
0.00006
|
NM_000214.3(JAG1):c.2877G>A (p.Ala959=)
|
rs142085300
|
0.00006
|
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)
|
rs754593633
|
0.00006
|
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)
|
rs148373907
|
0.00006
|
NM_000235.4(LIPA):c.618C>A (p.Val206=)
|
rs763651849
|
0.00006
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
NM_000257.4(MYH7):c.714C>T (p.Asn238=)
|
rs202141819
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000271.5(NPC1):c.1542G>A (p.Leu514=)
|
rs371076898
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)
|
rs190612616
|
0.00006
|
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys)
|
rs374156343
|
0.00006
|
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=)
|
rs148362959
|
0.00006
|
NM_000310.4(PPT1):c.*6G>A
|
rs113082671
|
0.00006
|
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
|
rs190070312
|
0.00006
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
|
rs397517923
|
0.00006
|
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr)
|
rs138044729
|
0.00006
|
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
NM_000390.4(CHM):c.957A>G (p.Thr319=)
|
rs373242750
|
0.00006
|
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=)
|
rs146575217
|
0.00006
|
NM_000392.5(ABCC2):c.3987+10G>A
|
rs373365135
|
0.00006
|
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)
|
rs28943590
|
0.00006
|
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)
|
rs766572560
|
0.00006
|
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=)
|
rs202033028
|
0.00006
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)
|
rs561612231
|
0.00006
|
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=)
|
rs771437431
|
0.00006
|
NM_000452.3(SLC10A2):c.261G>A (p.Ser87=)
|
rs200682819
|
0.00006
|
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys)
|
rs199572129
|
0.00006
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)
|
rs36076514
|
0.00006
|
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)
|
rs145153467
|
0.00006
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)
|
rs149249195
|
0.00006
|
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)
|
rs61752457
|
0.00006
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)
|
rs748743312
|
0.00006
|
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)
|
rs193922749
|
0.00006
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile)
|
rs193922795
|
0.00006
|
NM_000541.5(SAG):c.468C>T (p.Phe156=)
|
rs375593027
|
0.00006
|
NM_000543.5(SMPD1):c.373C>T (p.Leu125=)
|
rs370048730
|
0.00006
|
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr)
|
rs201811844
|
0.00006
|
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)
|
rs772687631
|
0.00006
|
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys)
|
rs201789348
|
0.00006
|
NM_000642.3(AGL):c.2607A>G (p.Gln869=)
|
rs747817359
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)
|
rs398123514
|
0.00006
|
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)
|
rs373124557
|
0.00006
|
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln)
|
rs755416498
|
0.00006
|
NM_000784.4(CYP27A1):c.420C>T (p.His140=)
|
rs139415581
|
0.00006
|
NM_000823.4(GHRHR):c.138G>A (p.Glu46=)
|
rs375206873
|
0.00006
|
NM_000875.5(IGF1R):c.1692C>T (p.Pro564=)
|
rs9282723
|
0.00006
|
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=)
|
rs754808908
|
0.00006
|
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)
|
rs370249358
|
0.00006
|
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=)
|
rs201302013
|
0.00006
|
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys)
|
rs61757205
|
0.00006
|
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=)
|
rs144325450
|
0.00006
|
NM_001077365.2(POMT1):c.1486+9G>A
|
rs547775333
|
0.00006
|
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)
|
rs757903559
|
0.00006
|
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=)
|
rs778418119
|
0.00006
|
NM_001077446.4(TSEN34):c.-8G>A
|
rs573039542
|
0.00006
|
NM_001083962.2(TCF4):c.1245T>C (p.His415=)
|
rs148909575
|
0.00006
|
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)
|
rs773739293
|
0.00006
|
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile)
|
rs782007408
|
0.00006
|
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=)
|
rs782806731
|
0.00006
|
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=)
|
rs61750236
|
0.00006
|
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)
|
rs138211345
|
0.00006
|
NM_001110792.2(MECP2):c.90C>G (p.Leu30=)
|
rs372500343
|
0.00006
|
NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=)
|
rs373190423
|
0.00006
|
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)
|
rs780515850
|
0.00006
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
NM_001127644.2(GABRA1):c.704-10T>C
|
rs188133840
|
0.00006
|
NM_001127649.3(PEX26):c.441C>T (p.Asp147=)
|
rs770611373
|
0.00006
|
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met)
|
rs199422213
|
0.00006
|
NM_001128228.3(TPRN):c.1726-7C>T
|
rs377461469
|
0.00006
|
NM_001130823.3(DNMT1):c.3806+6C>T
|
rs371779379
|
0.00006
|
NM_001130987.2(DYSF):c.378G>A (p.Pro126=)
|
rs377056951
|
0.00006
|
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)
|
rs200949030
|
0.00006
|
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=)
|
rs727504033
|
0.00006
|
NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys)
|
rs372372558
|
0.00006
|
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)
|
rs201079458
|
0.00006
|
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=)
|
rs369688121
|
0.00006
|
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His)
|
rs368834365
|
0.00006
|
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His)
|
rs745375504
|
0.00006
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
0.00006
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
NM_001199107.2(TBC1D24):c.1525+6C>T
|
rs758013935
|
0.00006
|
NM_001256317.3(TMPRSS3):c.915C>T (p.Ile305=)
|
rs774844255
|
0.00006
|
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)
|
rs368844570
|
0.00006
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)
|
rs777626473
|
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.105090C>T (p.Asp35030=)
|
rs72629789
|
0.00006
|
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)
|
rs145560044
|
0.00006
|
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)
|
rs368179478
|
0.00006
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
NM_001267550.2(TTN):c.15185G>A (p.Ser5062Asn)
|
rs371687650
|
0.00006
|
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys)
|
rs561557554
|
0.00006
|
NM_001267550.2(TTN):c.19190C>T (p.Thr6397Met)
|
rs199564845
|
0.00006
|
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu)
|
rs760007747
|
0.00006
|
NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val)
|
rs764832849
|
0.00006
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
0.00006
|
NM_001267550.2(TTN):c.2573C>T (p.Ser858Leu)
|
rs772294126
|
0.00006
|
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu)
|
rs188234466
|
0.00006
|
NM_001267550.2(TTN):c.26056G>A (p.Gly8686Ser)
|
rs370578197
|
0.00006
|
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)
|
rs369385294
|
0.00006
|
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)
|
rs563954136
|
0.00006
|
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe)
|
rs746558975
|
0.00006
|
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=)
|
rs368780181
|
0.00006
|
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala)
|
rs370208651
|
0.00006
|
NM_001267550.2(TTN):c.39885G>A (p.Pro13295=)
|
rs756518824
|
0.00006
|
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val)
|
rs201725483
|
0.00006
|
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His)
|
rs750278602
|
0.00006
|
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)
|
rs369623392
|
0.00006
|
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu)
|
rs201390600
|
0.00006
|
NM_001267550.2(TTN):c.47598A>G (p.Leu15866=)
|
rs879099244
|
0.00006
|
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)
|
rs748917057
|
0.00006
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)
|
rs770902874
|
0.00006
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
NM_001267550.2(TTN):c.53002+10G>A
|
rs370352450
|
0.00006
|
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)
|
rs771792080
|
0.00006
|
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His)
|
rs373526624
|
0.00006
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg)
|
rs770499179
|
0.00006
|
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=)
|
rs750472100
|
0.00006
|
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=)
|
rs370998052
|
0.00006
|
NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr)
|
rs118161093
|
0.00006
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=)
|
rs776141268
|
0.00006
|
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His)
|
rs370887455
|
0.00006
|
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile)
|
rs764777213
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)
|
rs770335539
|
0.00006
|
NM_001267550.2(TTN):c.64175G>A (p.Arg21392His)
|
rs777176324
|
0.00006
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
NM_001267550.2(TTN):c.64734C>T (p.Ser21578=)
|
rs773855604
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)
|
rs727503575
|
0.00006
|
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)
|
rs371818894
|
0.00006
|
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His)
|
rs755174224
|
0.00006
|
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln)
|
rs201694149
|
0.00006
|
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)
|
rs368914555
|
0.00006
|
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=)
|
rs370272814
|
0.00006
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr)
|
rs199514898
|
0.00006
|
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln)
|
rs375693686
|
0.00006
|
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu)
|
rs200406978
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=)
|
rs746569192
|
0.00006
|
NM_001267550.2(TTN):c.93254C>T (p.Pro31085Leu)
|
rs549841864
|
0.00006
|
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)
|
rs561739832
|
0.00006
|
NM_001267550.2(TTN):c.9639C>T (p.Ser3213=)
|
rs760666570
|
0.00006
|
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)
|
rs764561909
|
0.00006
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)
|
rs184922462
|
0.00006
|
NM_001277115.2(DNAH11):c.5622-7C>A
|
rs727503901
|
0.00006
|
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=)
|
rs200768501
|
0.00006
|
NM_001292063.2(OTOG):c.6405C>T (p.Thr2135=)
|
rs187255209
|
0.00006
|
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr)
|
rs201837579
|
0.00006
|
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=)
|
rs192909520
|
0.00006
|
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=)
|
rs550579591
|
0.00006
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=)
|
rs373866956
|
0.00006
|
NM_001358530.2(MOCS1):c.418+1G>A
|
rs141982812
|
0.00006
|
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=)
|
rs369382960
|
0.00006
|
NM_001360.3(DHCR7):c.522C>T (p.Phe174=)
|
rs140648594
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_001360.3(DHCR7):c.92G>A (p.Arg31His)
|
rs370307688
|
0.00006
|
NM_001360.3(DHCR7):c.957G>A (p.Thr319=)
|
rs200157761
|
0.00006
|
NM_001365536.1(SCN9A):c.642A>G (p.Arg214=)
|
rs376908183
|
0.00006
|
NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=)
|
rs543345616
|
0.00006
|
NM_001367721.1(CASK):c.1315-10A>G
|
rs375004542
|
0.00006
|
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys)
|
rs200076785
|
0.00006
|
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=)
|
rs755367503
|
0.00006
|
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)
|
rs398124433
|
0.00006
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
NM_001384474.1(LOXHD1):c.4376-2A>G
|
rs886043616
|
0.00006
|
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu)
|
rs144626200
|
0.00006
|
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln)
|
rs145910735
|
0.00006
|
NM_001701.4(BAAT):c.761C>T (p.Thr254Met)
|
rs768526453
|
0.00006
|
NM_001793.6(CDH3):c.1704G>A (p.Thr568=)
|
rs561193756
|
0.00006
|
NM_001844.5(COL2A1):c.3435+18C>T
|
rs375024988
|
0.00006
|
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His)
|
rs754487319
|
0.00006
|
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=)
|
rs149910296
|
0.00006
|
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile)
|
rs563043611
|
0.00006
|
NM_001848.3(COL6A1):c.357G>A (p.Ala119=)
|
rs747037863
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)
|
rs201094892
|
0.00006
|
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=)
|
rs143749884
|
0.00006
|
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)
|
rs373611722
|
0.00006
|
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr)
|
rs141776183
|
0.00006
|
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=)
|
rs767276283
|
0.00006
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
NM_001909.5(CTSD):c.111G>A (p.Ser37=)
|
rs535140505
|
0.00006
|
NM_001909.5(CTSD):c.267C>G (p.Pro89=)
|
rs139154882
|
0.00006
|
NM_001966.4(EHHADH):c.298G>A (p.Gly100Arg)
|
rs768718791
|
0.00006
|
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)
|
rs371640952
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_002047.4(GARS1):c.1857C>T (p.Leu619=)
|
rs183573304
|
0.00006
|
NM_002335.4(LRP5):c.4272C>T (p.His1424=)
|
rs145226802
|
0.00006
|
NM_002397.5(MEF2C):c.759A>G (p.Pro253=)
|
rs368575766
|
0.00006
|
NM_002473.6(MYH9):c.2907C>T (p.Thr969=)
|
rs767461889
|
0.00006
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
NM_002618.4(PEX13):c.408T>A (p.Ile136=)
|
rs145776973
|
0.00006
|
NM_002693.3(POLG):c.129G>A (p.Gln43=)
|
rs570989155
|
0.00006
|
NM_002693.3(POLG):c.1545C>T (p.Ile515=)
|
rs537156830
|
0.00006
|
NM_002693.3(POLG):c.1743C>T (p.Asp581=)
|
rs140743000
|
0.00006
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
NM_002693.3(POLG):c.3216C>G (p.Thr1072=)
|
rs146936870
|
0.00006
|
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)
|
rs368435864
|
0.00006
|
NM_002693.3(POLG):c.3450C>T (p.Ala1150=)
|
rs774880085
|
0.00006
|
NM_002734.5(PRKAR1A):c.798G>A (p.Thr266=)
|
rs201774040
|
0.00006
|
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile)
|
rs151207265
|
0.00006
|
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00006
|
NM_002834.5(PTPN11):c.132C>T (p.Ser44=)
|
rs397507502
|
0.00006
|
NM_002863.5(PYGL):c.1758G>A (p.Thr586=)
|
rs755485474
|
0.00006
|
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met)
|
rs373471563
|
0.00006
|
NM_002979.5(SCP2):c.1632C>T (p.Asn544=)
|
rs143534838
|
0.00006
|
NM_002979.5(SCP2):c.855A>G (p.Ala285=)
|
rs185811440
|
0.00006
|
NM_003049.4(SLC10A1):c.664_665del (p.Leu222fs)
|
rs765246704
|
0.00006
|
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=)
|
rs757546528
|
0.00006
|
NM_003193.5(TBCE):c.898+5A>T
|
rs182294717
|
0.00006
|
NM_003238.6(TGFB2):c.644-4C>T
|
rs11466408
|
0.00006
|
NM_003482.4(KMT2D):c.15273G>A (p.Lys5091=)
|
rs398123727
|
0.00006
|
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)
|
rs143063879
|
0.00006
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00006
|
NM_003722.5(TP63):c.1083G>A (p.Lys361=)
|
rs148937466
|
0.00006
|
NM_003742.4(ABCB11):c.1465C>G (p.Leu489Val)
|
rs944713270
|
0.00006
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
NM_003742.4(ABCB11):c.2616C>T (p.Ala872=)
|
rs528640585
|
0.00006
|
NM_003742.4(ABCB11):c.3412-7T>C
|
rs757040670
|
0.00006
|
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)
|
rs199841445
|
0.00006
|
NM_003816.3(ADAM9):c.1074T>C (p.Asp358=)
|
rs202060547
|
0.00006
|
NM_003839.4(TNFRSF11A):c.1296G>A (p.Pro432=)
|
rs547088539
|
0.00006
|
NM_003839.4(TNFRSF11A):c.423C>T (p.His141=)
|
rs763226980
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln)
|
rs148511512
|
0.00006
|
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)
|
rs139772014
|
0.00006
|
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)
|
rs144667422
|
0.00006
|
NM_004006.3(DMD):c.501G>T (p.Leu167=)
|
rs150239235
|
0.00006
|
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu)
|
rs144718274
|
0.00006
|
NM_004006.3(DMD):c.7051T>C (p.Leu2351=)
|
rs367747168
|
0.00006
|
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)
|
rs1057519106
|
0.00006
|
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)
|
rs138085358
|
0.00006
|
NM_004320.6(ATP2A1):c.2774dup (p.Met925fs)
|
rs398124555
|
0.00006
|
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)
|
rs753966526
|
0.00006
|
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=)
|
rs114492689
|
0.00006
|
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=)
|
rs193265138
|
0.00006
|
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=)
|
rs764225803
|
0.00006
|
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=)
|
rs147215386
|
0.00006
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=)
|
rs115591088
|
0.00006
|
NM_004369.4(COL6A3):c.7755T>C (p.His2585=)
|
rs145581705
|
0.00006
|
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=)
|
rs368664039
|
0.00006
|
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=)
|
rs375462934
|
0.00006
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile)
|
rs199894361
|
0.00006
|
NM_004393.6(DAG1):c.1773C>T (p.Phe591=)
|
rs2229010
|
0.00006
|
NM_004393.6(DAG1):c.735G>A (p.Pro245=)
|
rs748164001
|
0.00006
|
NM_004393.6(DAG1):c.927C>T (p.Arg309=)
|
rs551679833
|
0.00006
|
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)
|
rs142386294
|
0.00006
|
NM_004560.4(ROR2):c.2445G>A (p.Pro815=)
|
rs202010959
|
0.00006
|
NM_004817.4(TJP2):c.2334C>T (p.Thr778=)
|
rs183285809
|
0.00006
|
NM_004817.4(TJP2):c.2880+17C>T
|
rs778212657
|
0.00006
|
NM_005476.7(GNE):c.1242T>C (p.Leu414=)
|
rs371881711
|
0.00006
|
NM_005476.7(GNE):c.1281+6A>T
|
rs201025841
|
0.00006
|
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)
|
rs573932867
|
0.00006
|
NM_005529.7(HSPG2):c.2558+10A>G
|
rs756733330
|
0.00006
|
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His)
|
rs775389963
|
0.00006
|
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp)
|
rs535956121
|
0.00006
|
NM_005529.7(HSPG2):c.9291C>T (p.Tyr3097=)
|
rs534949106
|
0.00006
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
NM_006005.3(WFS1):c.2181C>T (p.Ile727=)
|
rs140286718
|
0.00006
|
NM_006005.3(WFS1):c.977C>T (p.Ala326Val)
|
rs369795224
|
0.00006
|
NM_006015.6(ARID1A):c.1715C>T (p.Thr572Met)
|
rs778345898
|
0.00006
|
NM_006015.6(ARID1A):c.5246G>A (p.Arg1749Lys)
|
rs370901533
|
0.00006
|
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg)
|
rs752992538
|
0.00006
|
NM_006031.6(PCNT):c.405C>T (p.Val135=)
|
rs371917839
|
0.00006
|
NM_006031.6(PCNT):c.930C>T (p.His310=)
|
rs778056605
|
0.00006
|
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=)
|
rs142835743
|
0.00006
|
NM_006432.5(NPC2):c.270T>C (p.Pro90=)
|
rs758503440
|
0.00006
|
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met)
|
rs766511464
|
0.00006
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)
|
rs200175704
|
0.00006
|
NM_006790.3(MYOT):c.1335C>T (p.Asn445=)
|
rs769506328
|
0.00006
|
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=)
|
rs746501220
|
0.00006
|
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp)
|
rs755595060
|
0.00006
|
NM_007059.4(KPTN):c.394+1G>A
|
rs373139784
|
0.00006
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
NM_012254.3(SLC27A5):c.1668A>G (p.Arg556=)
|
rs370902216
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_012470.4(TNPO3):c.2599-6A>G
|
rs374776250
|
0.00006
|
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala)
|
rs761503297
|
0.00006
|
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)
|
rs139949668
|
0.00006
|
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=)
|
rs368108883
|
0.00006
|
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)
|
rs531991442
|
0.00006
|
NM_014324.6(AMACR):c.429G>A (p.Pro143=)
|
rs368427062
|
0.00006
|
NM_014324.6(AMACR):c.90T>G (p.Arg30=)
|
rs769780647
|
0.00006
|
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)
|
rs367857040
|
0.00006
|
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=)
|
rs141211365
|
0.00006
|
NM_014780.5(CUL7):c.4713C>T (p.Ile1571=)
|
rs368539088
|
0.00006
|
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=)
|
rs201473375
|
0.00006
|
NM_014989.7(RIMS1):c.4506-5G>A
|
rs201556693
|
0.00006
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
NM_015102.5(NPHP4):c.-8C>T
|
rs375807896
|
0.00006
|
NM_015102.5(NPHP4):c.2238C>T (p.Thr746=)
|
rs756449736
|
0.00006
|
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)
|
rs778306754
|
0.00006
|
NM_015158.5(KANK1):c.95T>C (p.Phe32Ser)
|
rs183362306
|
0.00006
|
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=)
|
rs202109404
|
0.00006
|
NM_015634.4(KIFBP):c.1314T>G (p.Thr438=)
|
rs776013730
|
0.00006
|
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)
|
rs121912619
|
0.00006
|
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=)
|
rs374951514
|
0.00006
|
NM_016247.4(IMPG2):c.1794C>T (p.Asp598=)
|
rs371805004
|
0.00006
|
NM_016366.3(CABP2):c.345C>A (p.Thr115=)
|
rs376093439
|
0.00006
|
NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg)
|
rs148345688
|
0.00006
|
NM_017780.4(CHD7):c.4534-20C>T
|
rs727503866
|
0.00006
|
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln)
|
rs371988345
|
0.00006
|
NM_017780.4(CHD7):c.90G>A (p.Pro30=)
|
rs374464240
|
0.00006
|
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr)
|
rs537091457
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_018100.4(EFHC1):c.1852-6C>G
|
rs372507832
|
0.00006
|
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val)
|
rs552158003
|
0.00006
|
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=)
|
rs374040448
|
0.00006
|
NM_020184.4(CNNM4):c.1587G>A (p.Lys529=)
|
rs569907931
|
0.00006
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
NM_020451.3(SELENON):c.465G>A (p.Thr155=)
|
rs753774853
|
0.00006
|
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=)
|
rs141802876
|
0.00006
|
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)
|
rs373041291
|
0.00006
|
NM_021939.4(FKBP10):c.1269G>A (p.Gly423=)
|
rs371540139
|
0.00006
|
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=)
|
rs372172457
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_022124.6(CDH23):c.870C>T (p.Ser290=)
|
rs375292899
|
0.00006
|
NM_022356.4(P3H1):c.756C>T (p.Tyr252=)
|
rs770943260
|
0.00006
|
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=)
|
rs373560827
|
0.00006
|
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)
|
rs137852990
|
0.00006
|
NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg)
|
rs142544192
|
0.00006
|
NM_022455.5(NSD1):c.4642-7T>C
|
rs183928380
|
0.00006
|
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)
|
rs144689354
|
0.00006
|
NM_024301.5(FKRP):c.1140G>A (p.Gly380=)
|
rs552260353
|
0.00006
|
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=)
|
rs376503331
|
0.00006
|
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile)
|
rs745861610
|
0.00006
|
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)
|
rs771638958
|
0.00006
|
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser)
|
rs144936899
|
0.00006
|
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile)
|
rs201403389
|
0.00006
|
NM_024649.5(BBS1):c.858C>T (p.Ile286=)
|
rs746775716
|
0.00006
|
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val)
|
rs138292762
|
0.00006
|
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=)
|
rs772286870
|
0.00006
|
NM_025074.7(FRAS1):c.39G>A (p.Ala13=)
|
rs773457837
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_025265.4(TSEN2):c.870A>G (p.Pro290=)
|
rs542708828
|
0.00006
|
NM_030665.4(RAI1):c.1488G>A (p.Pro496=)
|
rs727504116
|
0.00006
|
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu)
|
rs374187267
|
0.00006
|
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr)
|
rs779651867
|
0.00006
|
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser)
|
rs145732429
|
0.00006
|
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)
|
rs142639587
|
0.00006
|
NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu)
|
rs773072116
|
0.00006
|
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=)
|
rs142097643
|
0.00006
|
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=)
|
rs371639191
|
0.00006
|
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser)
|
rs397517427
|
0.00006
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
NM_032119.4(ADGRV1):c.8156-6T>C
|
rs574939589
|
0.00006
|
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)
|
rs200412477
|
0.00006
|
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met)
|
rs138638103
|
0.00006
|
NM_033337.3(CAV3):c.39C>T (p.Ile13=)
|
rs200562715
|
0.00006
|
NM_058246.4(DNAJB6):c.564C>T (p.Phe188=)
|
rs145897776
|
0.00006
|
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)
|
rs528009333
|
0.00006
|
NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser)
|
rs200169027
|
0.00006
|
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
|
rs199546324
|
0.00006
|
NM_138691.3(TMC1):c.1114G>A (p.Val372Met)
|
rs367924428
|
0.00006
|
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=)
|
rs147826962
|
0.00006
|
NM_138694.4(PKHD1):c.3628+9C>A
|
rs552339299
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_144672.4(OTOA):c.1488+8G>A
|
rs375767505
|
0.00006
|
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser)
|
rs782056388
|
0.00006
|
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile)
|
rs782716325
|
0.00006
|
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys)
|
rs144350008
|
0.00006
|
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=)
|
rs373968888
|
0.00006
|
NM_153240.5(NPHP3):c.255G>A (p.Glu85=)
|
rs146839563
|
0.00006
|
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=)
|
rs770187706
|
0.00006
|
NM_173630.4(RTTN):c.4564+8C>T
|
rs563328673
|
0.00006
|
NM_181332.3(NLGN4X):c.48G>A (p.Pro16=)
|
rs398124365
|
0.00006
|
NM_181486.4(TBX5):c.786C>T (p.Thr262=)
|
rs375955080
|
0.00006
|
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg)
|
rs146573874
|
0.00006
|
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser)
|
rs200937358
|
0.00006
|
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=)
|
rs369227827
|
0.00006
|
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=)
|
rs373438870
|
0.00006
|
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=)
|
rs767294195
|
0.00006
|
NM_182961.4(SYNE1):c.2893-5G>A
|
rs370196519
|
0.00006
|
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)
|
rs754584363
|
0.00006
|
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=)
|
rs144910464
|
0.00006
|
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)
|
rs757104773
|
0.00006
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_194248.3(OTOF):c.2253G>A (p.Thr751=)
|
rs201888333
|
0.00006
|
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys)
|
rs574277214
|
0.00006
|
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val)
|
rs370079447
|
0.00006
|
NM_201384.3(PLEC):c.10413G>A (p.Thr3471=)
|
rs782728053
|
0.00006
|
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys)
|
rs782531580
|
0.00006
|
NM_201384.3(PLEC):c.1122C>T (p.His374=)
|
rs372270485
|
0.00006
|
NM_201384.3(PLEC):c.11721G>A (p.Thr3907=)
|
rs371520192
|
0.00006
|
NM_201384.3(PLEC):c.11844G>A (p.Ser3948=)
|
rs782025071
|
0.00006
|
NM_201384.3(PLEC):c.13401C>T (p.Ala4467=)
|
rs782114678
|
0.00006
|
NM_201384.3(PLEC):c.1668C>T (p.Gly556=)
|
rs369796183
|
0.00006
|
NM_201384.3(PLEC):c.3186G>A (p.Thr1062=)
|
rs782437578
|
0.00006
|
NM_201384.3(PLEC):c.3369G>A (p.Pro1123=)
|
rs371882486
|
0.00006
|
NM_201384.3(PLEC):c.4134G>A (p.Ala1378=)
|
rs558224639
|
0.00006
|
NM_201384.3(PLEC):c.4293G>A (p.Ala1431=)
|
rs782198489
|
0.00006
|
NM_201384.3(PLEC):c.4839G>A (p.Arg1613=)
|
rs554561043
|
0.00006
|
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp)
|
rs774270631
|
0.00006
|
NM_201384.3(PLEC):c.8799C>T (p.Phe2933=)
|
rs371751910
|
0.00006
|
NM_201525.4(ADGRG1):c.27G>A (p.Thr9=)
|
rs142223451
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_207391.3(RGS9BP):c.96C>G (p.Asp32Glu)
|
rs201148742
|
0.00006
|
NM_213599.3(ANO5):c.41-1G>A
|
rs398124625
|
0.00006
|
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys)
|
rs781734224
|
0.00006
|
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)
|
rs373458753
|
0.00005
|
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)
|
rs374431061
|
0.00005
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)
|
rs147914333
|
0.00005
|
NM_000070.3(CAPN3):c.258dup (p.Leu87fs)
|
rs753360208
|
0.00005
|
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=)
|
rs772517977
|
0.00005
|
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=)
|
rs202109186
|
0.00005
|
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=)
|
rs376478864
|
0.00005
|
NM_000117.3(EMD):c.355C>A (p.Gln119Lys)
|
rs398123157
|
0.00005
|
NM_000117.3(EMD):c.525C>T (p.Ser175=)
|
rs782367505
|
0.00005
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000169.3(GLA):c.619T>C (p.Tyr207His)
|
rs372416832
|
0.00005
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro)
|
rs573367793
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)
|
rs569192835
|
0.00005
|
NM_000214.3(JAG1):c.2781C>T (p.Val927=)
|
rs746664646
|
0.00005
|
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu)
|
rs775363555
|
0.00005
|
NM_000219.6(KCNE1):c.30G>A (p.Thr10=)
|
rs187686559
|
0.00005
|
NM_000231.3(SGCG):c.414A>G (p.Gln138=)
|
rs770596449
|
0.00005
|
NM_000235.4(LIPA):c.342C>T (p.Asp114=)
|
rs371133960
|
0.00005
|
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)
|
rs375675796
|
0.00005
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln)
|
rs371115266
|
0.00005
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224
|
0.00005
|
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)
|
rs145124626
|
0.00005
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)
|
rs183714869
|
0.00005
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
|
rs374222196
|
0.00005
|
NM_000368.5(TSC1):c.479G>A (p.Arg160His)
|
rs749979841
|
0.00005
|
NM_000368.5(TSC1):c.618T>C (p.His206=)
|
rs118203415
|
0.00005
|
NM_000381.4(MID1):c.1663A>C (p.Ile555Leu)
|
rs398123341
|
0.00005
|
NM_000381.4(MID1):c.99C>T (p.Cys33=)
|
rs727504015
|
0.00005
|
NM_000391.4(TPP1):c.6A>T (p.Gly2=)
|
rs747594496
|
0.00005
|
NM_000392.5(ABCC2):c.232C>T (p.Leu78=)
|
rs764390911
|
0.00005
|
NM_000392.5(ABCC2):c.2826C>T (p.Asp942=)
|
rs148081784
|
0.00005
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00005
|
NM_000443.4(ABCB4):c.438C>T (p.Ile146=)
|
rs776179529
|
0.00005
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=)
|
rs142077822
|
0.00005
|
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=)
|
rs199766420
|
0.00005
|
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln)
|
rs72551341
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000489.6(ATRX):c.7201-4A>G
|
rs782317502
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)
|
rs180714609
|
0.00005
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00005
|
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=)
|
rs369206584
|
0.00005
|
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)
|
rs45486591
|
0.00005
|
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)
|
rs759837836
|
0.00005
|
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=)
|
rs767533378
|
0.00005
|
NM_000780.4(CYP7A1):c.1292A>G (p.Lys431Arg)
|
rs151122002
|
0.00005
|
NM_000823.4(GHRHR):c.885G>T (p.Val295=)
|
rs146944568
|
0.00005
|
NM_000875.5(IGF1R):c.189C>T (p.Leu63=)
|
rs149417802
|
0.00005
|
NM_001031710.3(KLHL7):c.1533C>T (p.Val511=)
|
rs886043663
|
0.00005
|
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)
|
rs559154874
|
0.00005
|
NM_001037.5(SCN1B):c.561C>T (p.Ala187=)
|
rs587781152
|
0.00005
|
NM_001048174.2(MUTYH):c.99G>A (p.Lys33=)
|
rs375084663
|
0.00005
|
NM_001098671.2(RASGRP2):c.1788G>A (p.Glu596=)
|
rs372060305
|
0.00005
|
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)
|
rs397515398
|
0.00005
|
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)
|
rs398123618
|
0.00005
|
NM_001110556.2(FLNA):c.6770-5C>T
|
rs370913359
|
0.00005
|
NM_001110792.2(MECP2):c.696C>T (p.Leu232=)
|
rs267608512
|
0.00005
|
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=)
|
rs753256966
|
0.00005
|
NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=)
|
rs143765189
|
0.00005
|
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)
|
rs202216404
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
0.00005
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
0.00005
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_001136193.2(FASTKD2):c.1353A>G (p.Leu451=)
|
rs369427864
|
0.00005
|
NM_001144967.3(NEDD4L):c.965A>G (p.Asn322Ser)
|
rs749019037
|
0.00005
|
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys)
|
rs180843436
|
0.00005
|
NM_001159699.2(FHL1):c.408C>T (p.Thr136=)
|
rs755900253
|
0.00005
|
NM_001159699.2(FHL1):c.456C>T (p.Ile152=)
|
rs747594885
|
0.00005
|
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)
|
rs146125558
|
0.00005
|
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln)
|
rs200176684
|
0.00005
|
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala)
|
rs374767754
|
0.00005
|
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)
|
rs150154265
|
0.00005
|
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)
|
rs121909394
|
0.00005
|
NM_001177316.2(SLC34A3):c.987C>T (p.Ala329=)
|
rs372523225
|
0.00005
|
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)
|
rs749163517
|
0.00005
|
NM_001206979.2(NR1H4):c.345C>T (p.Gly115=)
|
rs372358310
|
0.00005
|
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)
|
rs766439271
|
0.00005
|
NM_001267550.2(TTN):c.103215C>T (p.Leu34405=)
|
rs748516187
|
0.00005
|
NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys)
|
rs398124463
|
0.00005
|
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys)
|
rs375103237
|
0.00005
|
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)
|
rs150231219
|
0.00005
|
NM_001267550.2(TTN):c.208G>A (p.Val70Met)
|
rs772248060
|
0.00005
|
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)
|
rs181206334
|
0.00005
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser)
|
rs751157908
|
0.00005
|
NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu)
|
rs772596633
|
0.00005
|
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)
|
rs371156190
|
0.00005
|
NM_001267550.2(TTN):c.28042C>G (p.Gln9348Glu)
|
rs794727987
|
0.00005
|
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)
|
rs370903846
|
0.00005
|
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=)
|
rs374346637
|
0.00005
|
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln)
|
rs368885310
|
0.00005
|
NM_001267550.2(TTN):c.39230T>C (p.Val13077Ala)
|
rs398124449
|
0.00005
|
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu)
|
rs72650062
|
0.00005
|
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)
|
rs765214404
|
0.00005
|
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)
|
rs374672630
|
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.54811+10C>T
|
rs796651993
|
0.00005
|
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His)
|
rs771284532
|
0.00005
|
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=)
|
rs529480368
|
0.00005
|
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)
|
rs370619063
|
0.00005
|
NM_001267550.2(TTN):c.57682C>T (p.Arg19228Cys)
|
rs757820671
|
0.00005
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00005
|
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr)
|
rs199933004
|
0.00005
|
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)
|
rs755949982
|
0.00005
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
NM_001267550.2(TTN):c.67637-4A>G
|
rs376053678
|
0.00005
|
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met)
|
rs370375696
|
0.00005
|
NM_001267550.2(TTN):c.72552C>T (p.Val24184=)
|
rs727504187
|
0.00005
|
NM_001267550.2(TTN):c.73914G>A (p.Glu24638=)
|
rs376382707
|
0.00005
|
NM_001267550.2(TTN):c.77907C>T (p.Asn25969=)
|
rs375903820
|
0.00005
|
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr)
|
rs367603381
|
0.00005
|
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)
|
rs376037252
|
0.00005
|
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn)
|
rs554231442
|
0.00005
|
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)
|
rs747181293
|
0.00005
|
NM_001267550.2(TTN):c.92612T>C (p.Val30871Ala)
|
rs756610221
|
0.00005
|
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr)
|
rs555405542
|
0.00005
|
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser)
|
rs886042885
|
0.00005
|
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)
|
rs727504857
|
0.00005
|
NM_001267550.2(TTN):c.95541T>G (p.Arg31847=)
|
rs749477738
|
0.00005
|
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg)
|
rs758534800
|
0.00005
|
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr)
|
rs781572378
|
0.00005
|
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)
|
rs371531675
|
0.00005
|
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)
|
rs201226974
|
0.00005
|
NM_001278116.2(L1CAM):c.2872+9G>A
|
rs398123363
|
0.00005
|
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr)
|
rs777809121
|
0.00005
|
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)
|
rs748459878
|
0.00005
|
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=)
|
rs369377144
|
0.00005
|
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His)
|
rs199960045
|
0.00005
|
NM_001360.3(DHCR7):c.288C>T (p.Ala96=)
|
rs745595242
|
0.00005
|
NM_001360.3(DHCR7):c.69C>T (p.Thr23=)
|
rs199798127
|
0.00005
|
NM_001365536.1(SCN9A):c.1975-8T>A
|
rs752961542
|
0.00005
|
NM_001367721.1(CASK):c.42G>C (p.Leu14=)
|
rs377590077
|
0.00005
|
NM_001374353.1(GLI2):c.4241C>T (p.Pro1414Leu)
|
rs749402521
|
0.00005
|
NM_001374385.1(ATP8B1):c.1620T>C (p.Asp540=)
|
rs201514636
|
0.00005
|
NM_001374385.1(ATP8B1):c.2521A>C (p.Arg841=)
|
rs149156534
|
0.00005
|
NM_001374385.1(ATP8B1):c.276T>C (p.Tyr92=)
|
rs749127600
|
0.00005
|
NM_001374385.1(ATP8B1):c.297A>T (p.Thr99=)
|
rs575921074
|
0.00005
|
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)
|
rs199530726
|
0.00005
|
NM_001378414.1(HDAC4):c.1434C>T (p.Asn478=)
|
rs754530774
|
0.00005
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
NM_001457.4(FLNB):c.2965G>A (p.Val989Met)
|
rs76471260
|
0.00005
|
NM_001701.4(BAAT):c.762G>A (p.Thr254=)
|
rs760488689
|
0.00005
|
NM_001701.4(BAAT):c.797T>C (p.Ile266Thr)
|
rs539433580
|
0.00005
|
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=)
|
rs139018148
|
0.00005
|
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)
|
rs760704425
|
0.00005
|
NM_001849.4(COL6A2):c.2205C>T (p.His735=)
|
rs755147431
|
0.00005
|
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=)
|
rs774805224
|
0.00005
|
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=)
|
rs143569686
|
0.00005
|
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=)
|
rs150004111
|
0.00005
|
NM_001931.5(DLAT):c.165C>G (p.Val55=)
|
rs199520186
|
0.00005
|
NM_001966.4(EHHADH):c.855C>T (p.Ser285=)
|
rs752275123
|
0.00005
|
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=)
|
rs374950193
|
0.00005
|
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly)
|
rs140059558
|
0.00005
|
NM_002473.6(MYH9):c.3213C>T (p.Ile1071=)
|
rs552133535
|
0.00005
|
NM_002547.3(OPHN1):c.702+8T>C
|
rs369382527
|
0.00005
|
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)
|
rs373118250
|
0.00005
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln)
|
rs758494772
|
0.00005
|
NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=)
|
rs368856357
|
0.00005
|
NM_003491.4(NAA10):c.201G>C (p.Val67=)
|
rs375971315
|
0.00005
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
NM_003742.4(ABCB11):c.3214-6C>G
|
rs750991541
|
0.00005
|
NM_003835.4(RGS9):c.69C>T (p.Leu23=)
|
rs373346845
|
0.00005
|
NM_003839.4(TNFRSF11A):c.1416C>T (p.Cys472=)
|
rs771249524
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
0.00005
|
NM_004006.3(DMD):c.2245A>G (p.Ile749Val)
|
rs771803281
|
0.00005
|
NM_004006.3(DMD):c.3375G>A (p.Ser1125=)
|
rs191164314
|
0.00005
|
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)
|
rs377156960
|
0.00005
|
NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg)
|
rs766977775
|
0.00005
|
NM_004006.3(DMD):c.434G>A (p.Arg145Gln)
|
rs398123952
|
0.00005
|
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp)
|
rs727503815
|
0.00005
|
NM_004006.3(DMD):c.7914T>C (p.Asp2638=)
|
rs754997935
|
0.00005
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
NM_004006.3(DMD):c.8886C>T (p.Pro2962=)
|
rs371648038
|
0.00005
|
NM_004006.3(DMD):c.923C>A (p.Thr308Asn)
|
rs145064612
|
0.00005
|
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=)
|
rs768233315
|
0.00005
|
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=)
|
rs373719229
|
0.00005
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)
|
rs758582935
|
0.00005
|
NM_004380.3(CREBBP):c.3060+10G>A
|
rs398124143
|
0.00005
|
NM_004463.3(FGD1):c.2047-5C>A
|
rs368646447
|
0.00005
|
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile)
|
rs373950992
|
0.00005
|
NM_004560.4(ROR2):c.1712A>G (p.His571Arg)
|
rs376970201
|
0.00005
|
NM_004560.4(ROR2):c.822C>T (p.Asn274=)
|
rs140557090
|
0.00005
|
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu)
|
rs200222645
|
0.00005
|
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=)
|
rs535728519
|
0.00005
|
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=)
|
rs372135575
|
0.00005
|
NM_004836.7(EIF2AK3):c.744C>T (p.Val248=)
|
rs147298435
|
0.00005
|
NM_005120.3(MED12):c.4971T>C (p.Leu1657=)
|
rs398124198
|
0.00005
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
NM_005422.4(TECTA):c.2088C>T (p.Cys696=)
|
rs368288093
|
0.00005
|
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu)
|
rs371562763
|
0.00005
|
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)
|
rs772823827
|
0.00005
|
NM_006005.3(WFS1):c.498C>G (p.Leu166=)
|
rs758731318
|
0.00005
|
NM_006031.6(PCNT):c.7180-7G>A
|
rs201549624
|
0.00005
|
NM_006432.5(NPC2):c.264T>C (p.Pro88=)
|
rs1011669605
|
0.00005
|
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=)
|
rs748935500
|
0.00005
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=)
|
rs141965401
|
0.00005
|
NM_012210.4(TRIM32):c.693A>C (p.Ala231=)
|
rs368455215
|
0.00005
|
NM_012470.4(TNPO3):c.2431-6A>C
|
rs190759031
|
0.00005
|
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln)
|
rs200163818
|
0.00005
|
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=)
|
rs372645983
|
0.00005
|
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)
|
rs765358773
|
0.00005
|
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln)
|
rs749599838
|
0.00005
|
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met)
|
rs767072861
|
0.00005
|
NM_014780.5(CUL7):c.4146T>C (p.Tyr1382=)
|
rs760451045
|
0.00005
|
NM_014795.4(ZEB2):c.219C>T (p.His73=)
|
rs778851716
|
0.00005
|
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser)
|
rs200935038
|
0.00005
|
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=)
|
rs201192584
|
0.00005
|
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=)
|
rs143189638
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=)
|
rs763699437
|
0.00005
|
NM_015629.4(PRPF31):c.138T>C (p.Asp46=)
|
rs76251057
|
0.00005
|
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)
|
rs41272440
|
0.00005
|
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=)
|
rs756879923
|
0.00005
|
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=)
|
rs766017194
|
0.00005
|
NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)
|
rs201436915
|
0.00005
|
NM_020297.4(ABCC9):c.4512+777G>A
|
rs542730918
|
0.00005
|
NM_020822.3(KCNT1):c.408C>T (p.Leu136=)
|
rs370046449
|
0.00005
|
NM_022081.6(HPS4):c.1857G>A (p.Pro619=)
|
rs373421312
|
0.00005
|
NM_022124.6(CDH23):c.330C>T (p.His110=)
|
rs201232514
|
0.00005
|
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)
|
rs767584159
|
0.00005
|
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp)
|
rs142657029
|
0.00005
|
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)
|
rs142023792
|
0.00005
|
NM_022455.5(NSD1):c.4303-4A>G
|
rs775759198
|
0.00005
|
NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln)
|
rs371060516
|
0.00005
|
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala)
|
rs587778578
|
0.00005
|
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=)
|
rs376689763
|
0.00005
|
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile)
|
rs200943280
|
0.00005
|
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp)
|
rs376505416
|
0.00005
|
NM_032119.4(ADGRV1):c.18144T>C (p.His6048=)
|
rs188017433
|
0.00005
|
NM_032119.4(ADGRV1):c.6859G>A (p.Val2287Ile)
|
rs868801998
|
0.00005
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779
|
0.00005
|
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)
|
rs112626848
|
0.00005
|
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp)
|
rs370966667
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=)
|
rs752509045
|
0.00005
|
NM_139343.3(BIN1):c.924C>T (p.Pro308=)
|
rs367611371
|
0.00005
|
NM_144639.3(UROC1):c.970C>T (p.Arg324Cys)
|
rs377309471
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_170699.3(GPBAR1):c.857G>A (p.Arg286His)
|
rs201573186
|
0.00005
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met)
|
rs570139975
|
0.00005
|
NM_172364.5(CACNA2D4):c.2054+4A>T
|
rs200648405
|
0.00005
|
NM_181332.3(NLGN4X):c.999G>A (p.Pro333=)
|
rs398124367
|
0.00005
|
NM_182914.3(SYNE2):c.3885C>T (p.His1295=)
|
rs570341792
|
0.00005
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
NM_198525.3(KIF7):c.3795G>A (p.Thr1265=)
|
rs148749994
|
0.00005
|
NM_201384.3(PLEC):c.13449C>T (p.Ser4483=)
|
rs782187551
|
0.00005
|
NM_201384.3(PLEC):c.3873G>A (p.Ala1291=)
|
rs374669316
|
0.00005
|
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=)
|
rs369943756
|
0.00005
|
NM_201384.3(PLEC):c.6168C>T (p.Phe2056=)
|
rs370313601
|
0.00005
|
NM_201384.3(PLEC):c.7485C>T (p.Phe2495=)
|
rs542567139
|
0.00005
|
NM_201384.3(PLEC):c.9528C>T (p.Ala3176=)
|
rs368317567
|
0.00005
|
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=)
|
rs370364142
|
0.00005
|
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=)
|
rs778669346
|
0.00005
|
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=)
|
rs752080876
|
0.00005
|
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly)
|
rs146341538
|
0.00005
|
NM_000017.4(ACADS):c.147C>G (p.Ala49=)
|
rs202193021
|
0.00004
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)
|
rs370720208
|
0.00004
|
NM_000023.4(SGCA):c.270C>T (p.Tyr90=)
|
rs749205073
|
0.00004
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)
|
rs60431989
|
0.00004
|
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)
|
rs201427280
|
0.00004
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile)
|
rs80358853
|
0.00004
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
NM_000070.3(CAPN3):c.183C>T (p.Phe61=)
|
rs146069933
|
0.00004
|
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)
|
rs190793093
|
0.00004
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00004
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
NM_000082.4(ERCC8):c.510T>C (p.Leu170=)
|
rs886042104
|
0.00004
|
NM_000088.4(COL1A1):c.299-9G>T
|
rs373041336
|
0.00004
|
NM_000092.5(COL4A4):c.90C>T (p.Leu30=)
|
rs747805491
|
0.00004
|
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp)
|
rs186044004
|
0.00004
|
NM_000117.3(EMD):c.171C>T (p.Ser57=)
|
rs900267221
|
0.00004
|
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)
|
rs906755254
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)
|
rs1057942
|
0.00004
|
NM_000179.3(MSH6):c.2418C>T (p.Ser806=)
|
rs770992427
|
0.00004
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000214.3(JAG1):c.2304C>T (p.Cys768=)
|
rs755427292
|
0.00004
|
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)
|
rs542831744
|
0.00004
|
NM_000235.4(LIPA):c.714G>A (p.Ala238=)
|
rs139282720
|
0.00004
|
NM_000245.4(MET):c.1019A>G (p.Asp340Gly)
|
rs200690492
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=)
|
rs727504023
|
0.00004
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)
|
rs757286784
|
0.00004
|
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp)
|
rs774268095
|
0.00004
|
NM_000295.5(SERPINA1):c.381C>T (p.Leu127=)
|
rs372438611
|
0.00004
|
NM_000316.3(PTH1R):c.645G>T (p.Leu215=)
|
rs201490454
|
0.00004
|
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)
|
rs747893076
|
0.00004
|
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)
|
rs189230866
|
0.00004
|
NM_000335.5(SCN5A):c.435C>T (p.Cys145=)
|
rs587781159
|
0.00004
|
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter)
|
rs757532106
|
0.00004
|
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)
|
rs549319429
|
0.00004
|
NM_000337.6(SGCD):c.756G>A (p.Thr252=)
|
rs756467431
|
0.00004
|
NM_000346.4(SOX9):c.918G>A (p.Val306=)
|
rs367966473
|
0.00004
|
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)
|
rs74516571
|
0.00004
|
NM_000372.5(TYR):c.759A>T (p.Gly253=)
|
rs200936835
|
0.00004
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln)
|
rs781337846
|
0.00004
|
NM_000392.5(ABCC2):c.213C>T (p.Phe71=)
|
rs770824435
|
0.00004
|
NM_000392.5(ABCC2):c.3591C>G (p.Val1197=)
|
rs774159224
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)
|
rs200347945
|
0.00004
|
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=)
|
rs753886576
|
0.00004
|
NM_000440.3(PDE6A):c.251A>T (p.Lys84Met)
|
rs771965437
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
NM_000443.4(ABCB4):c.1356+10A>G
|
rs374723850
|
0.00004
|
NM_000452.3(SLC10A2):c.846G>A (p.Glu282=)
|
rs746750365
|
0.00004
|
NM_000458.4(HNF1B):c.1008C>T (p.His336=)
|
rs150268130
|
0.00004
|
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=)
|
rs780554506
|
0.00004
|
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly)
|
rs184095519
|
0.00004
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000492.4(CFTR):c.1227T>C (p.Phe409=)
|
rs778548877
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.393T>C (p.Phe131=)
|
rs1039221071
|
0.00004
|
NM_000516.7(GNAS):c.108C>T (p.Val36=)
|
rs146581290
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_000539.3(RHO):c.362-10T>C
|
rs568571580
|
0.00004
|
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=)
|
rs371952058
|
0.00004
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu)
|
rs759317223
|
0.00004
|
NM_000540.3(RYR1):c.6274+1G>A
|
rs1226228092
|
0.00004
|
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn)
|
rs566495420
|
0.00004
|
NM_000540.3(RYR1):c.9354G>A (p.Ala3118=)
|
rs146408926
|
0.00004
|
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)
|
rs140770832
|
0.00004
|
NM_000543.5(SMPD1):c.39C>T (p.Pro13=)
|
rs775473869
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
NM_000548.5(TSC2):c.1600-9T>C
|
rs886043268
|
0.00004
|
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)
|
rs373390136
|
0.00004
|
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=)
|
rs398123517
|
0.00004
|
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)
|
rs587780881
|
0.00004
|
NM_000726.5(CACNB4):c.36G>A (p.Ala12=)
|
rs754380009
|
0.00004
|
NM_000744.7(CHRNA4):c.383+7C>T
|
rs200690355
|
0.00004
|
NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr)
|
rs779269724
|
0.00004
|
NM_000780.4(CYP7A1):c.318G>A (p.Ala106=)
|
rs200839929
|
0.00004
|
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)
|
rs748616891
|
0.00004
|
NM_000875.5(IGF1R):c.1485C>T (p.Phe495=)
|
rs886043360
|
0.00004
|
NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=)
|
rs749416988
|
0.00004
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp)
|
rs138249238
|
0.00004
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=)
|
rs587781156
|
0.00004
|
NM_001048166.1(STIL):c.1227T>C (p.Ser409=)
|
rs200532713
|
0.00004
|
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)
|
rs770213403
|
0.00004
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
NM_001061.7(TBXAS1):c.51G>A (p.Thr17=)
|
rs201600575
|
0.00004
|
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)
|
rs377304621
|
0.00004
|
NM_001077365.2(POMT1):c.2003+9G>A
|
rs368975092
|
0.00004
|
NM_001077365.2(POMT1):c.310C>T (p.Leu104=)
|
rs146982282
|
0.00004
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)
|
rs146272618
|
0.00004
|
NM_001083961.2(WDR62):c.1977C>T (p.Asn659=)
|
rs79238222
|
0.00004
|
NM_001101426.4(CRPPA):c.789+9G>A
|
rs375132134
|
0.00004
|
NM_001105206.3(LAMA4):c.3165C>T (p.Ser1055=)
|
rs782303510
|
0.00004
|
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His)
|
rs782563602
|
0.00004
|
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=)
|
rs782006734
|
0.00004
|
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)
|
rs782426283
|
0.00004
|
NM_001110556.2(FLNA):c.5218-4G>A
|
rs370196495
|
0.00004
|
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=)
|
rs781825661
|
0.00004
|
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)
|
rs794726872
|
0.00004
|
NM_001126121.2(SLC25A19):c.564C>T (p.Tyr188=)
|
rs145654111
|
0.00004
|
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)
|
rs764453012
|
0.00004
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=)
|
rs368048030
|
0.00004
|
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)
|
rs188863534
|
0.00004
|
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)
|
rs140814100
|
0.00004
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=)
|
rs753665968
|
0.00004
|
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=)
|
rs761519681
|
0.00004
|
NM_001130987.2(DYSF):c.1985-4C>G
|
rs374489513
|
0.00004
|
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)
|
rs553605812
|
0.00004
|
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)
|
rs373328706
|
0.00004
|
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)
|
rs760443264
|
0.00004
|
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=)
|
rs769289729
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001145358.2(SIN3A):c.618C>A (p.Gly206=)
|
rs372626992
|
0.00004
|
NM_001145358.2(SIN3A):c.621G>A (p.Gln207=)
|
rs372433846
|
0.00004
|
NM_001145860.2(POP1):c.163C>T (p.Arg55Ter)
|
rs370453487
|
0.00004
|
NM_001148.6(ANK2):c.1773T>C (p.Ser591=)
|
rs374775005
|
0.00004
|
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn)
|
rs369496057
|
0.00004
|
NM_001164688.2(RD3):c.498C>T (p.Ile166=)
|
rs779584830
|
0.00004
|
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=)
|
rs138181528
|
0.00004
|
NM_001177316.2(SLC34A3):c.1164A>G (p.Ala388=)
|
rs762986714
|
0.00004
|
NM_001177316.2(SLC34A3):c.882G>A (p.Pro294=)
|
rs370122685
|
0.00004
|
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=)
|
rs200394848
|
0.00004
|
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=)
|
rs771026197
|
0.00004
|
NM_001193315.2(VIPAS39):c.632-9G>A
|
rs370850533
|
0.00004
|
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=)
|
rs61731478
|
0.00004
|
NM_001206979.2(NR1H4):c.302C>T (p.Thr101Ile)
|
rs200146597
|
0.00004
|
NM_001206979.2(NR1H4):c.963T>C (p.Ile321=)
|
rs757460153
|
0.00004
|
NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp)
|
rs727504182
|
0.00004
|
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter)
|
rs369742878
|
0.00004
|
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys)
|
rs748104690
|
0.00004
|
NM_001267550.2(TTN):c.101037G>A (p.Gln33679=)
|
rs377190399
|
0.00004
|
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=)
|
rs755262343
|
0.00004
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00004
|
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)
|
rs368945564
|
0.00004
|
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)
|
rs771136390
|
0.00004
|
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)
|
rs754459138
|
0.00004
|
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala)
|
rs374859388
|
0.00004
|
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)
|
rs727503660
|
0.00004
|
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)
|
rs201046911
|
0.00004
|
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)
|
rs34337578
|
0.00004
|
NM_001267550.2(TTN):c.15822A>T (p.Ala5274=)
|
rs779456916
|
0.00004
|
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)
|
rs376820575
|
0.00004
|
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro)
|
rs776790387
|
0.00004
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00004
|
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)
|
rs72648948
|
0.00004
|
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)
|
rs372654116
|
0.00004
|
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)
|
rs727504579
|
0.00004
|
NM_001267550.2(TTN):c.21906C>T (p.Cys7302=)
|
rs370548693
|
0.00004
|
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu)
|
rs200061856
|
0.00004
|
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)
|
rs191854953
|
0.00004
|
NM_001267550.2(TTN):c.23444G>A (p.Arg7815Gln)
|
rs372804810
|
0.00004
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00004
|
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)
|
rs727504515
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser)
|
rs368531555
|
0.00004
|
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr)
|
rs201635835
|
0.00004
|
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=)
|
rs746912694
|
0.00004
|
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)
|
rs778338717
|
0.00004
|
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val)
|
rs755562550
|
0.00004
|
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg)
|
rs541811273
|
0.00004
|
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=)
|
rs371178429
|
0.00004
|
NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile)
|
rs373881831
|
0.00004
|
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)
|
rs368155350
|
0.00004
|
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=)
|
rs771454835
|
0.00004
|
NM_001267550.2(TTN):c.42873G>A (p.Ala14291=)
|
rs370216450
|
0.00004
|
NM_001267550.2(TTN):c.44418C>T (p.Ser14806=)
|
rs368005198
|
0.00004
|
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)
|
rs184078045
|
0.00004
|
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe)
|
rs72677226
|
0.00004
|
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn)
|
rs370813526
|
0.00004
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00004
|
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys)
|
rs780334981
|
0.00004
|
NM_001267550.2(TTN):c.47129G>A (p.Arg15710His)
|
rs185689179
|
0.00004
|
NM_001267550.2(TTN):c.47217C>T (p.Gly15739=)
|
rs373305832
|
0.00004
|
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)
|
rs397517593
|
0.00004
|
NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val)
|
rs747433688
|
0.00004
|
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)
|
rs376188859
|
0.00004
|
NM_001267550.2(TTN):c.51249C>A (p.Val17083=)
|
rs377342233
|
0.00004
|
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)
|
rs150737838
|
0.00004
|
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)
|
rs201904897
|
0.00004
|
NM_001267550.2(TTN):c.54360T>C (p.Thr18120=)
|
rs749248039
|
0.00004
|
NM_001267550.2(TTN):c.54477C>G (p.Val18159=)
|
rs374335905
|
0.00004
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
NM_001267550.2(TTN):c.58008T>C (p.Asn19336=)
|
rs770525693
|
0.00004
|
NM_001267550.2(TTN):c.597A>G (p.Val199=)
|
rs144214844
|
0.00004
|
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)
|
rs1217782958
|
0.00004
|
NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr)
|
rs374845737
|
0.00004
|
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)
|
rs774995592
|
0.00004
|
NM_001267550.2(TTN):c.62547G>A (p.Thr20849=)
|
rs368969893
|
0.00004
|
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)
|
rs374727686
|
0.00004
|
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr)
|
rs528707403
|
0.00004
|
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)
|
rs368716894
|
0.00004
|
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)
|
rs374736305
|
0.00004
|
NM_001267550.2(TTN):c.66288A>G (p.Glu22096=)
|
rs368297582
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val)
|
rs771710562
|
0.00004
|
NM_001267550.2(TTN):c.70743C>T (p.His23581=)
|
rs375194057
|
0.00004
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
NM_001267550.2(TTN):c.70998A>G (p.Thr23666=)
|
rs767989384
|
0.00004
|
NM_001267550.2(TTN):c.72114G>A (p.Thr24038=)
|
rs768064912
|
0.00004
|
NM_001267550.2(TTN):c.73873T>C (p.Leu24625=)
|
rs545556079
|
0.00004
|
NM_001267550.2(TTN):c.73935C>A (p.Gly24645=)
|
rs375726644
|
0.00004
|
NM_001267550.2(TTN):c.73937G>A (p.Ser24646Asn)
|
rs370902028
|
0.00004
|
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala)
|
rs200723435
|
0.00004
|
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile)
|
rs370070176
|
0.00004
|
NM_001267550.2(TTN):c.77268A>G (p.Ala25756=)
|
rs376372388
|
0.00004
|
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp)
|
rs755117644
|
0.00004
|
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)
|
rs368270588
|
0.00004
|
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)
|
rs748292845
|
0.00004
|
NM_001267550.2(TTN):c.81147T>C (p.Ala27049=)
|
rs765706611
|
0.00004
|
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu)
|
rs199670463
|
0.00004
|
NM_001267550.2(TTN):c.83580G>A (p.Val27860=)
|
rs200096597
|
0.00004
|
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)
|
rs375442124
|
0.00004
|
NM_001267550.2(TTN):c.84188G>A (p.Arg28063His)
|
rs570847832
|
0.00004
|
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=)
|
rs879222360
|
0.00004
|
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=)
|
rs747423090
|
0.00004
|
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)
|
rs397517736
|
0.00004
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00004
|
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)
|
rs371763584
|
0.00004
|
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)
|
rs372360369
|
0.00004
|
NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala)
|
rs201220828
|
0.00004
|
NM_001267550.2(TTN):c.90237C>T (p.His30079=)
|
rs756663688
|
0.00004
|
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys)
|
rs372303620
|
0.00004
|
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys)
|
rs200651247
|
0.00004
|
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)
|
rs727504439
|
0.00004
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=)
|
rs587780987
|
0.00004
|
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)
|
rs368786036
|
0.00004
|
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)
|
rs727503545
|
0.00004
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
NM_001267550.2(TTN):c.96225T>A (p.Val32075=)
|
rs752745266
|
0.00004
|
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly)
|
rs377049518
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln)
|
rs200809259
|
0.00004
|
NM_001286577.2(C2CD3):c.3929T>C (p.Ile1310Thr)
|
rs757220593
|
0.00004
|
NM_001297.5(CNGB1):c.291-5C>T
|
rs372308762
|
0.00004
|
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile)
|
rs199655686
|
0.00004
|
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys)
|
rs150153987
|
0.00004
|
NM_001319074.4(RAX2):c.91C>T (p.Arg31Cys)
|
rs200153795
|
0.00004
|
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)
|
rs140332992
|
0.00004
|
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=)
|
rs559668426
|
0.00004
|
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His)
|
rs398124543
|
0.00004
|
NM_001349338.3(FOXP1):c.1383C>T (p.Asn461=)
|
rs372403441
|
0.00004
|
NM_001353214.3(DYM):c.1344A>G (p.Gln448=)
|
rs77902523
|
0.00004
|
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)
|
rs547012639
|
0.00004
|
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)
|
rs567600444
|
0.00004
|
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=)
|
rs138919671
|
0.00004
|
NM_001369268.1(ACAN):c.1527G>A (p.Ser509=)
|
rs371049725
|
0.00004
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
NM_001374353.1(GLI2):c.606C>T (p.Ser202=)
|
rs146181686
|
0.00004
|
NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=)
|
rs761202112
|
0.00004
|
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly)
|
rs35238397
|
0.00004
|
NM_001374385.1(ATP8B1):c.2100C>T (p.Leu700=)
|
rs747771646
|
0.00004
|
NM_001374385.1(ATP8B1):c.3201C>T (p.Ser1067=)
|
rs777459332
|
0.00004
|
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val)
|
rs568826753
|
0.00004
|
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr)
|
rs776228346
|
0.00004
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg)
|
rs760839591
|
0.00004
|
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=)
|
rs779304750
|
0.00004
|
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala)
|
rs387907058
|
0.00004
|
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr)
|
rs182527895
|
0.00004
|
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met)
|
rs886044780
|
0.00004
|
NM_001384140.1(PCDH15):c.3717+10T>C
|
rs376158566
|
0.00004
|
NM_001384474.1(LOXHD1):c.3061+8G>T
|
rs764128579
|
0.00004
|
NM_001429.4(EP300):c.2419A>G (p.Ile807Val)
|
rs201054979
|
0.00004
|
NM_001429.4(EP300):c.4347T>C (p.His1449=)
|
rs137986257
|
0.00004
|
NM_001453.3(FOXC1):c.474C>T (p.Ser158=)
|
rs369346224
|
0.00004
|
NM_001457.4(FLNB):c.1303G>A (p.Asp435Asn)
|
rs781162510
|
0.00004
|
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=)
|
rs184065600
|
0.00004
|
NM_001793.6(CDH3):c.1011G>C (p.Val337=)
|
rs201726457
|
0.00004
|
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His)
|
rs763097721
|
0.00004
|
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=)
|
rs781031251
|
0.00004
|
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=)
|
rs377213930
|
0.00004
|
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=)
|
rs760649238
|
0.00004
|
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=)
|
rs780032842
|
0.00004
|
NM_001848.3(COL6A1):c.2610C>T (p.Asp870=)
|
rs759989949
|
0.00004
|
NM_001849.4(COL6A2):c.1817-8C>A
|
rs750444649
|
0.00004
|
NM_001849.4(COL6A2):c.219C>T (p.Phe73=)
|
rs374336669
|
0.00004
|
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=)
|
rs748047522
|
0.00004
|
NM_001849.4(COL6A2):c.735+7G>A
|
rs575365107
|
0.00004
|
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu)
|
rs202094480
|
0.00004
|
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=)
|
rs917541931
|
0.00004
|
NM_001854.4(COL11A1):c.510C>T (p.Ser170=)
|
rs749497678
|
0.00004
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
NM_001927.4(DES):c.63C>T (p.Ala21=)
|
rs201458068
|
0.00004
|
NM_001966.4(EHHADH):c.144T>C (p.Ile48=)
|
rs370127523
|
0.00004
|
NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala)
|
rs185950214
|
0.00004
|
NM_001999.4(FBN2):c.2555-6T>C
|
rs376507178
|
0.00004
|
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)
|
rs186526524
|
0.00004
|
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=)
|
rs368775789
|
0.00004
|
NM_002397.5(MEF2C):c.1332C>T (p.His444=)
|
rs376439815
|
0.00004
|
NM_002458.3(MUC5B):c.17016C>T (p.Cys5672=)
|
rs368986524
|
0.00004
|
NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr)
|
rs532156048
|
0.00004
|
NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln)
|
rs200616409
|
0.00004
|
NM_002474.3(MYH11):c.503-9T>C
|
rs554607161
|
0.00004
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
NM_002693.3(POLG):c.2487C>T (p.Pro829=)
|
rs147563527
|
0.00004
|
NM_002693.3(POLG):c.2599-10C>T
|
rs769346219
|
0.00004
|
NM_002693.3(POLG):c.2880C>T (p.Pro960=)
|
rs752500492
|
0.00004
|
NM_002693.3(POLG):c.3222G>T (p.Val1074=)
|
rs746773616
|
0.00004
|
NM_002693.3(POLG):c.3444C>T (p.Arg1148=)
|
rs374937961
|
0.00004
|
NM_002900.3(RBP3):c.1581G>A (p.Pro527=)
|
rs782233629
|
0.00004
|
NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter)
|
rs200809908
|
0.00004
|
NM_003049.4(SLC10A1):c.517G>C (p.Gly173Arg)
|
rs750470666
|
0.00004
|
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val)
|
rs372740284
|
0.00004
|
NM_003482.4(KMT2D):c.10741-7A>G
|
rs550510739
|
0.00004
|
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys)
|
rs372085797
|
0.00004
|
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=)
|
rs567323882
|
0.00004
|
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys)
|
rs398123714
|
0.00004
|
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=)
|
rs534236560
|
0.00004
|
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser)
|
rs376911077
|
0.00004
|
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met)
|
rs760263014
|
0.00004
|
NM_003630.3(PEX3):c.818+3A>G
|
rs975195178
|
0.00004
|
NM_003659.4(AGPS):c.1335C>T (p.Asp445=)
|
rs200039061
|
0.00004
|
NM_003673.4(TCAP):c.447C>T (p.Pro149=)
|
rs45614332
|
0.00004
|
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser)
|
rs779096015
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_003742.4(ABCB11):c.711G>A (p.Arg237=)
|
rs765070028
|
0.00004
|
NM_003839.4(TNFRSF11A):c.1515G>A (p.Ala505=)
|
rs374310569
|
0.00004
|
NM_003846.3(PEX11B):c.374+9T>C
|
rs200094067
|
0.00004
|
NM_003846.3(PEX11B):c.458G>A (p.Cys153Tyr)
|
rs201973197
|
0.00004
|
NM_003846.3(PEX11B):c.510T>G (p.Thr170=)
|
rs782275834
|
0.00004
|
NM_004006.3(DMD):c.10128A>G (p.Leu3376=)
|
rs755438733
|
0.00004
|
NM_004006.3(DMD):c.1159A>G (p.Met387Val)
|
rs770202940
|
0.00004
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
NM_004006.3(DMD):c.1603-6C>T
|
rs774626474
|
0.00004
|
NM_004006.3(DMD):c.1848C>A (p.Ser616=)
|
rs376024929
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)
|
rs398123931
|
0.00004
|
NM_004006.3(DMD):c.4275A>G (p.Glu1425=)
|
rs72468647
|
0.00004
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
NM_004006.3(DMD):c.618A>G (p.Gln206=)
|
rs727503865
|
0.00004
|
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu)
|
rs201262489
|
0.00004
|
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile)
|
rs143426249
|
0.00004
|
NM_004006.3(DMD):c.9198G>A (p.Ser3066=)
|
rs753594128
|
0.00004
|
NM_004006.3(DMD):c.9987A>G (p.Leu3329=)
|
rs145595228
|
0.00004
|
NM_004187.5(KDM5C):c.25C>T (p.Leu9=)
|
rs782183376
|
0.00004
|
NM_004369.4(COL6A3):c.285G>A (p.Thr95=)
|
rs373435541
|
0.00004
|
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)
|
rs200948078
|
0.00004
|
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=)
|
rs377074792
|
0.00004
|
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=)
|
rs570963533
|
0.00004
|
NM_004369.4(COL6A3):c.8567+2dup
|
rs776144262
|
0.00004
|
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=)
|
rs748814297
|
0.00004
|
NM_004380.3(CREBBP):c.1275T>C (p.His425=)
|
rs758886547
|
0.00004
|
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=)
|
rs398124142
|
0.00004
|
NM_004380.3(CREBBP):c.423T>G (p.Ser141=)
|
rs760605470
|
0.00004
|
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)
|
rs750845399
|
0.00004
|
NM_004380.3(CREBBP):c.711C>T (p.Ser237=)
|
rs146049063
|
0.00004
|
NM_004393.6(DAG1):c.219C>T (p.Val73=)
|
rs145165301
|
0.00004
|
NM_004393.6(DAG1):c.222C>T (p.Val74=)
|
rs150727558
|
0.00004
|
NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu)
|
rs727503925
|
0.00004
|
NM_004482.4(GALNT3):c.1392+7T>G
|
rs779970449
|
0.00004
|
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys)
|
rs199657839
|
0.00004
|
NM_004565.3(PEX14):c.330C>T (p.Gly110=)
|
rs772527603
|
0.00004
|
NM_004656.4(BAP1):c.1227G>C (p.Val409=)
|
rs201203425
|
0.00004
|
NM_004817.4(TJP2):c.1629G>A (p.Ser543=)
|
rs771239031
|
0.00004
|
NM_004817.4(TJP2):c.2751C>T (p.Arg917=)
|
rs184519036
|
0.00004
|
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=)
|
rs749387422
|
0.00004
|
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln)
|
rs748102718
|
0.00004
|
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=)
|
rs372800597
|
0.00004
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala)
|
rs796052472
|
0.00004
|
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met)
|
rs779401654
|
0.00004
|
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu)
|
rs151296951
|
0.00004
|
NM_005422.4(TECTA):c.5826C>A (p.Tyr1942Ter)
|
rs955468054
|
0.00004
|
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
|
rs200812140
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=)
|
rs149466423
|
0.00004
|
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=)
|
rs773662857
|
0.00004
|
NM_005529.7(HSPG2):c.5646G>A (p.Leu1882=)
|
rs533624001
|
0.00004
|
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=)
|
rs557762861
|
0.00004
|
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
NM_005989.4(AKR1D1):c.60C>T (p.Ile20=)
|
rs756630815
|
0.00004
|
NM_005989.4(AKR1D1):c.723T>C (p.Asp241=)
|
rs200829661
|
0.00004
|
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)
|
rs377539343
|
0.00004
|
NM_006005.3(WFS1):c.1801G>A (p.Val601Met)
|
rs147838635
|
0.00004
|
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val)
|
rs368199588
|
0.00004
|
NM_006031.6(PCNT):c.1281C>T (p.His427=)
|
rs142413458
|
0.00004
|
NM_006031.6(PCNT):c.6261G>A (p.Gln2087=)
|
rs181127717
|
0.00004
|
NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=)
|
rs201204481
|
0.00004
|
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=)
|
rs770535800
|
0.00004
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met)
|
rs142986731
|
0.00004
|
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=)
|
rs398124230
|
0.00004
|
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)
|
rs55693364
|
0.00004
|
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=)
|
rs141985098
|
0.00004
|
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val)
|
rs200538599
|
0.00004
|
NM_006922.4(SCN3A):c.474-4C>T
|
rs371709966
|
0.00004
|
NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr)
|
rs549918589
|
0.00004
|
NM_007126.5(VCP):c.1242G>A (p.Leu414=)
|
rs375262833
|
0.00004
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
0.00004
|
NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=)
|
rs776448126
|
0.00004
|
NM_012210.4(TRIM32):c.201T>C (p.Ile67=)
|
rs780799984
|
0.00004
|
NM_012210.4(TRIM32):c.339G>C (p.Arg113=)
|
rs150477945
|
0.00004
|
NM_012210.4(TRIM32):c.501G>A (p.Lys167=)
|
rs200085883
|
0.00004
|
NM_012254.3(SLC27A5):c.225C>T (p.Leu75=)
|
rs372436444
|
0.00004
|
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=)
|
rs1026361359
|
0.00004
|
NM_014000.3(VCL):c.2652G>A (p.Glu884=)
|
rs371187988
|
0.00004
|
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=)
|
rs377641548
|
0.00004
|
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=)
|
rs145162968
|
0.00004
|
NM_014141.6(CNTNAP2):c.3716-6C>G
|
rs77025884
|
0.00004
|
NM_014324.6(AMACR):c.1011C>T (p.Ile337=)
|
rs779290495
|
0.00004
|
NM_014425.5(INVS):c.1107T>C (p.His369=)
|
rs760637052
|
0.00004
|
NM_014639.4(SKIC3):c.3710C>T (p.Ala1237Val)
|
rs557540994
|
0.00004
|
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=)
|
rs372233286
|
0.00004
|
NM_014780.5(CUL7):c.156C>T (p.Asp52=)
|
rs368209176
|
0.00004
|
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met)
|
rs727504227
|
0.00004
|
NM_015102.5(NPHP4):c.1653C>T (p.Ala551=)
|
rs751732786
|
0.00004
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00004
|
NM_015102.5(NPHP4):c.267C>T (p.Ile89=)
|
rs372171438
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1401+4A>G
|
rs727503880
|
0.00004
|
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=)
|
rs369550628
|
0.00004
|
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=)
|
rs567120742
|
0.00004
|
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=)
|
rs374001837
|
0.00004
|
NM_015338.6(ASXL1):c.1249C>T (p.Arg417Ter)
|
rs375215583
|
0.00004
|
NM_015404.4(WHRN):c.1417-8G>A
|
rs202228471
|
0.00004
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00004
|
NM_015404.4(WHRN):c.933A>C (p.Pro311=)
|
rs569159249
|
0.00004
|
NM_016239.4(MYO15A):c.5193C>T (p.Phe1731=)
|
rs767426819
|
0.00004
|
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu)
|
rs376939609
|
0.00004
|
NM_016239.4(MYO15A):c.6729G>A (p.Thr2243=)
|
rs531965733
|
0.00004
|
NM_016239.4(MYO15A):c.9518-10G>A
|
rs570587230
|
0.00004
|
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His)
|
rs771591530
|
0.00004
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=)
|
rs375432782
|
0.00004
|
NM_017777.4(MKS1):c.1273+6C>T
|
rs371480628
|
0.00004
|
NM_017777.4(MKS1):c.1274-4G>A
|
rs377033778
|
0.00004
|
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)
|
rs554737227
|
0.00004
|
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=)
|
rs191081055
|
0.00004
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00004
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00004
|
NM_018006.5(TRMU):c.1218C>T (p.Ser406=)
|
rs754239335
|
0.00004
|
NM_018006.5(TRMU):c.30C>T (p.Ala10=)
|
rs776692221
|
0.00004
|
NM_018006.5(TRMU):c.429C>T (p.His143=)
|
rs746421213
|
0.00004
|
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=)
|
rs376539395
|
0.00004
|
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp)
|
rs138727741
|
0.00004
|
NM_020223.4(FAM20C):c.795G>A (p.Ser265=)
|
rs766106805
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=)
|
rs556687525
|
0.00004
|
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=)
|
rs372301689
|
0.00004
|
NM_020754.4(ARHGAP31):c.3461C>T (p.Pro1154Leu)
|
rs772715426
|
0.00004
|
NM_021830.5(TWNK):c.1827C>A (p.Arg609=)
|
rs146601680
|
0.00004
|
NM_021939.4(FKBP10):c.315C>T (p.Gly105=)
|
rs373064272
|
0.00004
|
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala)
|
rs570371168
|
0.00004
|
NM_022124.6(CDH23):c.1719C>T (p.Asn573=)
|
rs761913744
|
0.00004
|
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)
|
rs537971045
|
0.00004
|
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=)
|
rs373514009
|
0.00004
|
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)
|
rs200839584
|
0.00004
|
NM_022436.3(ABCG5):c.915G>A (p.Thr305=)
|
rs773296588
|
0.00004
|
NM_022437.3(ABCG8):c.15G>A (p.Ala5=)
|
rs200951677
|
0.00004
|
NM_022437.3(ABCG8):c.331A>C (p.Arg111=)
|
rs752358589
|
0.00004
|
NM_022437.3(ABCG8):c.369C>T (p.His123=)
|
rs139859350
|
0.00004
|
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu)
|
rs374740802
|
0.00004
|
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val)
|
rs746599803
|
0.00004
|
NM_023036.6(DNAI2):c.933G>A (p.Lys311=)
|
rs570168701
|
0.00004
|
NM_024009.3(GJB3):c.499G>A (p.Val167Met)
|
rs376748531
|
0.00004
|
NM_024301.5(FKRP):c.1236C>T (p.His412=)
|
rs201076863
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)
|
rs367699419
|
0.00004
|
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=)
|
rs563486507
|
0.00004
|
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=)
|
rs369912969
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024649.5(BBS1):c.48-9C>A
|
rs765571574
|
0.00004
|
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln)
|
rs373174786
|
0.00004
|
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro)
|
rs182595609
|
0.00004
|
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn)
|
rs774174988
|
0.00004
|
NM_025074.7(FRAS1):c.9450G>T (p.Val3150=)
|
rs372168929
|
0.00004
|
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=)
|
rs147276536
|
0.00004
|
NM_030665.4(RAI1):c.2074G>A (p.Val692Met)
|
rs398124415
|
0.00004
|
NM_030665.4(RAI1):c.2220C>T (p.Ser740=)
|
rs149807469
|
0.00004
|
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp)
|
rs758990336
|
0.00004
|
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile)
|
rs142646842
|
0.00004
|
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=)
|
rs371282530
|
0.00004
|
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu)
|
rs782526786
|
0.00004
|
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser)
|
rs576429729
|
0.00004
|
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu)
|
rs765063091
|
0.00004
|
NM_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val)
|
rs532836800
|
0.00004
|
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=)
|
rs368420512
|
0.00004
|
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)
|
rs376376418
|
0.00004
|
NM_032119.4(ADGRV1):c.17388G>A (p.Gln5796=)
|
rs183208875
|
0.00004
|
NM_032119.4(ADGRV1):c.1801G>T (p.Asp601Tyr)
|
rs375085032
|
0.00004
|
NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu)
|
rs959132080
|
0.00004
|
NM_032119.4(ADGRV1):c.3819G>A (p.Arg1273=)
|
rs764738838
|
0.00004
|
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp)
|
rs370432538
|
0.00004
|
NM_032119.4(ADGRV1):c.5537T>C (p.Val1846Ala)
|
rs756062421
|
0.00004
|
NM_032119.4(ADGRV1):c.6338A>G (p.Asn2113Ser)
|
rs201579557
|
0.00004
|
NM_032273.4(TMEM126A):c.531A>G (p.Gln177=)
|
rs369467944
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_033337.3(CAV3):c.384C>T (p.Phe128=)
|
rs773934743
|
0.00004
|
NM_033360.4(KRAS):c.93A>G (p.Glu31=)
|
rs377354475
|
0.00004
|
NM_057176.3(BSND):c.744G>A (p.Thr248=)
|
rs754819005
|
0.00004
|
NM_058246.4(DNAJB6):c.276A>G (p.Thr92=)
|
rs765815570
|
0.00004
|
NM_080680.3(COL11A2):c.12C>T (p.Cys4=)
|
rs914781832
|
0.00004
|
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val)
|
rs143965711
|
0.00004
|
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=)
|
rs565891154
|
0.00004
|
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn)
|
rs772537556
|
0.00004
|
NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln)
|
rs774845879
|
0.00004
|
NM_130837.3(OPA1):c.2520+13A>G
|
rs371943802
|
0.00004
|
NM_130839.5(UBE3A):c.1728G>A (p.Val576=)
|
rs749731066
|
0.00004
|
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys)
|
rs776361113
|
0.00004
|
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro)
|
rs149892167
|
0.00004
|
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)
|
rs777976050
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
NM_144672.4(OTOA):c.462C>T (p.Gly154=)
|
rs767974412
|
0.00004
|
NM_145200.5(CABP4):c.187G>A (p.Gly63Ser)
|
rs767502632
|
0.00004
|
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu)
|
rs147004110
|
0.00004
|
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr)
|
rs201636905
|
0.00004
|
NM_145691.4(ATPAF2):c.241G>A (p.Val81Ile)
|
rs371136012
|
0.00004
|
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=)
|
rs765163542
|
0.00004
|
NM_152564.5(VPS13B):c.2825-4T>A
|
rs201354177
|
0.00004
|
NM_152564.5(VPS13B):c.4950-9A>G
|
rs373474658
|
0.00004
|
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=)
|
rs781244729
|
0.00004
|
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=)
|
rs747847543
|
0.00004
|
NM_153252.5(BRWD3):c.4309G>A (p.Ala1437Thr)
|
rs767555361
|
0.00004
|
NM_170699.3(GPBAR1):c.321C>T (p.His107=)
|
rs199941566
|
0.00004
|
NM_170699.3(GPBAR1):c.528C>T (p.Pro176=)
|
rs202154681
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_170707.4(LMNA):c.1311C>T (p.Ser437=)
|
rs763224059
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_170707.4(LMNA):c.726G>A (p.Ala242=)
|
rs763625309
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_182746.3(MCM4):c.1800+8G>A
|
rs890413153
|
0.00004
|
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe)
|
rs886044254
|
0.00004
|
NM_182961.4(SYNE1):c.10257T>C (p.His3419=)
|
rs147631683
|
0.00004
|
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)
|
rs569973824
|
0.00004
|
NM_182961.4(SYNE1):c.1497C>T (p.His499=)
|
rs758555741
|
0.00004
|
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met)
|
rs199996504
|
0.00004
|
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=)
|
rs779112403
|
0.00004
|
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=)
|
rs369626489
|
0.00004
|
NM_182961.4(SYNE1):c.3670-4A>G
|
rs377058395
|
0.00004
|
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln)
|
rs369775705
|
0.00004
|
NM_182961.4(SYNE1):c.462C>T (p.Ser154=)
|
rs761939786
|
0.00004
|
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=)
|
rs187410988
|
0.00004
|
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)
|
rs398124579
|
0.00004
|
NM_198506.5(LRIT3):c.1467C>T (p.Asn489=)
|
rs369821286
|
0.00004
|
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys)
|
rs148538056
|
0.00004
|
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser)
|
rs782299720
|
0.00004
|
NM_201384.3(PLEC):c.11421C>T (p.Gly3807=)
|
rs782144786
|
0.00004
|
NM_201384.3(PLEC):c.12978C>T (p.Thr4326=)
|
rs781832846
|
0.00004
|
NM_201384.3(PLEC):c.13596C>T (p.Ala4532=)
|
rs781917029
|
0.00004
|
NM_201384.3(PLEC):c.2580G>A (p.Pro860=)
|
rs782468518
|
0.00004
|
NM_201384.3(PLEC):c.3009C>T (p.Thr1003=)
|
rs376276993
|
0.00004
|
NM_201384.3(PLEC):c.4137C>T (p.His1379=)
|
rs782222813
|
0.00004
|
NM_201384.3(PLEC):c.4218G>A (p.Glu1406=)
|
rs782584192
|
0.00004
|
NM_201384.3(PLEC):c.6312G>A (p.Ala2104=)
|
rs782048792
|
0.00004
|
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys)
|
rs782713908
|
0.00004
|
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=)
|
rs559736151
|
0.00004
|
NM_201384.3(PLEC):c.7592G>A (p.Arg2531His)
|
rs369729231
|
0.00004
|
NM_201384.3(PLEC):c.7667G>A (p.Arg2556Gln)
|
rs782640329
|
0.00004
|
NM_201384.3(PLEC):c.8577C>T (p.His2859=)
|
rs200012425
|
0.00004
|
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln)
|
rs200176579
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_206933.4(USH2A):c.8856C>T (p.Asp2952=)
|
rs149306655
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NC_000002.12:g.178605717T>C
|
rs772324772
|
0.00003
|
NM_000016.6(ACADM):c.388-14A>G
|
rs372525651
|
0.00003
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)
|
rs28940287
|
0.00003
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000071.3(CBS):c.435G>A (p.Pro145=)
|
rs148782895
|
0.00003
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=)
|
rs200319927
|
0.00003
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)
|
rs540131206
|
0.00003
|
NM_000113.3(TOR1A):c.990C>T (p.Tyr330=)
|
rs148849547
|
0.00003
|
NM_000117.3(EMD):c.243C>T (p.Asp81=)
|
rs150757295
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)
|
rs375624881
|
0.00003
|
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=)
|
rs376787929
|
0.00003
|
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=)
|
rs528979086
|
0.00003
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000152.5(GAA):c.1326+1G>A
|
rs1205507761
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
NM_000152.5(GAA):c.351G>A (p.Leu117=)
|
rs574947353
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)
|
rs758447515
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
NM_000169.3(GLA):c.714T>C (p.Ser238=)
|
rs397515872
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu)
|
rs758687380
|
0.00003
|
NM_000235.4(LIPA):c.846A>G (p.Thr282=)
|
rs534838107
|
0.00003
|
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His)
|
rs730880118
|
0.00003
|
NM_000256.3(MYBPC3):c.1790+7G>A
|
rs374852831
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
NM_000307.5(POU3F4):c.588G>C (p.Gln196His)
|
rs770776910
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000316.3(PTH1R):c.1728T>C (p.Ser576=)
|
rs201013164
|
0.00003
|
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys)
|
rs775252439
|
0.00003
|
NM_000330.4(RS1):c.234G>A (p.Pro78=)
|
rs183092299
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_000362.5(TIMP3):c.459G>A (p.Leu153=)
|
rs757458960
|
0.00003
|
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=)
|
rs373465241
|
0.00003
|
NM_000370.3(TTPA):c.553-6C>T
|
rs761911043
|
0.00003
|
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys)
|
rs370654268
|
0.00003
|
NM_000391.4(TPP1):c.887-18A>G
|
rs935526225
|
0.00003
|
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp)
|
rs777902199
|
0.00003
|
NM_000392.5(ABCC2):c.2747+10C>T
|
rs772329652
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu)
|
rs201767875
|
0.00003
|
NM_000426.4(LAMA2):c.5688C>T (p.His1896=)
|
rs573779258
|
0.00003
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=)
|
rs371013005
|
0.00003
|
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)
|
rs121918442
|
0.00003
|
NM_000443.4(ABCB4):c.525G>A (p.Thr175=)
|
rs558416191
|
0.00003
|
NM_000460.4(THPO):c.183G>T (p.Leu61=)
|
rs200666378
|
0.00003
|
NM_000478.6(ALPL):c.1479C>T (p.Asn493=)
|
rs759758484
|
0.00003
|
NM_000478.6(ALPL):c.673T>C (p.Tyr225His)
|
rs759125473
|
0.00003
|
NM_000487.6(ARSA):c.677C>T (p.Ala226Val)
|
rs74315468
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)
|
rs200901072
|
0.00003
|
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)
|
rs193922511
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000516.7(GNAS):c.102G>A (p.Lys34=)
|
rs1177100316
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)
|
rs794727049
|
0.00003
|
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)
|
rs867851900
|
0.00003
|
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His)
|
rs371566475
|
0.00003
|
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly)
|
rs193922822
|
0.00003
|
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=)
|
rs552470353
|
0.00003
|
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=)
|
rs199828145
|
0.00003
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_000548.5(TSC2):c.493C>T (p.Leu165=)
|
rs758521946
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr)
|
rs398123519
|
0.00003
|
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)
|
rs754527651
|
0.00003
|
NM_000719.7(CACNA1C):c.50-3C>T
|
rs780161540
|
0.00003
|
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser)
|
rs533676935
|
0.00003
|
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=)
|
rs530924728
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)
|
rs121434304
|
0.00003
|
NM_000875.5(IGF1R):c.1680G>A (p.Lys560=)
|
rs754035007
|
0.00003
|
NM_000875.5(IGF1R):c.2745G>A (p.Ser915=)
|
rs757589571
|
0.00003
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
NM_001025295.3(IFITM5):c.-10G>A
|
rs770089325
|
0.00003
|
NM_001025295.3(IFITM5):c.8C>T (p.Thr3Met)
|
rs376963969
|
0.00003
|
NM_001032382.2(PQBP1):c.492G>T (p.Gly164=)
|
rs375706327
|
0.00003
|
NM_001034850.3(RETREG1):c.750G>T (p.Leu250=)
|
rs767329180
|
0.00003
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=)
|
rs529842407
|
0.00003
|
NM_001042413.2(GLIS3):c.609G>A (p.Ser203=)
|
rs148306701
|
0.00003
|
NM_001042432.2(CLN3):c.1198-5C>T
|
rs764999720
|
0.00003
|
NM_001042472.3(ABHD12):c.317-10T>A
|
rs768757901
|
0.00003
|
NM_001079802.2(FKTN):c.393G>A (p.Glu131=)
|
rs1472560195
|
0.00003
|
NM_001079802.2(FKTN):c.402A>T (p.Gly134=)
|
rs780921233
|
0.00003
|
NM_001079802.2(FKTN):c.911-8C>A
|
rs749557617
|
0.00003
|
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=)
|
rs782598234
|
0.00003
|
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)
|
rs376774130
|
0.00003
|
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=)
|
rs782221205
|
0.00003
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)
|
rs749587119
|
0.00003
|
NM_001128178.3(NPHP1):c.330-4G>A
|
rs774162169
|
0.00003
|
NM_001128225.3(SLC39A13):c.786+6C>T
|
rs779162662
|
0.00003
|
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=)
|
rs752878085
|
0.00003
|
NM_001130987.2(DYSF):c.1449+7C>T
|
rs199608017
|
0.00003
|
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)
|
rs754177085
|
0.00003
|
NM_001130987.2(DYSF):c.760-8G>C
|
rs748159785
|
0.00003
|
NM_001142800.2(EYS):c.5645-8C>T
|
rs886044616
|
0.00003
|
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln)
|
rs377014092
|
0.00003
|
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=)
|
rs2229008
|
0.00003
|
NM_001164508.2(NEB):c.12018+1G>A
|
rs762278237
|
0.00003
|
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=)
|
rs374874999
|
0.00003
|
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=)
|
rs886043534
|
0.00003
|
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=)
|
rs766317271
|
0.00003
|
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=)
|
rs886044633
|
0.00003
|
NM_001193315.2(VIPAS39):c.1089+8C>G
|
rs371371767
|
0.00003
|
NM_001193315.2(VIPAS39):c.15G>A (p.Lys5=)
|
rs768593671
|
0.00003
|
NM_001193315.2(VIPAS39):c.246C>T (p.His82=)
|
rs569525220
|
0.00003
|
NM_001197104.2(KMT2A):c.10690C>T (p.Arg3564Trp)
|
rs555310772
|
0.00003
|
NM_001206979.2(NR1H4):c.1079-8C>T
|
rs764238006
|
0.00003
|
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe)
|
rs369484186
|
0.00003
|
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=)
|
rs372469227
|
0.00003
|
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=)
|
rs770089807
|
0.00003
|
NM_001267550.2(TTN):c.100534A>T (p.Asn33512Tyr)
|
rs778965506
|
0.00003
|
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val)
|
rs762136167
|
0.00003
|
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)
|
rs747161494
|
0.00003
|
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)
|
rs727504540
|
0.00003
|
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)
|
rs766440492
|
0.00003
|
NM_001267550.2(TTN):c.12564C>A (p.Ala4188=)
|
rs547338168
|
0.00003
|
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile)
|
rs371639583
|
0.00003
|
NM_001267550.2(TTN):c.1398+5G>A
|
rs542965530
|
0.00003
|
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)
|
rs147879266
|
0.00003
|
NM_001267550.2(TTN):c.14588G>A (p.Gly4863Glu)
|
rs375680312
|
0.00003
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)
|
rs72648936
|
0.00003
|
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln)
|
rs753892271
|
0.00003
|
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)
|
rs751902051
|
0.00003
|
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)
|
rs397517492
|
0.00003
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys)
|
rs149155733
|
0.00003
|
NM_001267550.2(TTN):c.24621C>T (p.Asp8207=)
|
rs751733811
|
0.00003
|
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)
|
rs370962244
|
0.00003
|
NM_001267550.2(TTN):c.2650G>A (p.Ala884Thr)
|
rs772195446
|
0.00003
|
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr)
|
rs375907742
|
0.00003
|
NM_001267550.2(TTN):c.28127C>G (p.Thr9376Arg)
|
rs749875409
|
0.00003
|
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met)
|
rs375209383
|
0.00003
|
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe)
|
rs140953779
|
0.00003
|
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)
|
rs367901929
|
0.00003
|
NM_001267550.2(TTN):c.33742+1G>T
|
rs772114165
|
0.00003
|
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)
|
rs373083865
|
0.00003
|
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val)
|
rs752903377
|
0.00003
|
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys)
|
rs376117402
|
0.00003
|
NM_001267550.2(TTN):c.35249T>C (p.Ile11750Thr)
|
rs398124447
|
0.00003
|
NM_001267550.2(TTN):c.3670T>C (p.Leu1224=)
|
rs764873258
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=)
|
rs749356221
|
0.00003
|
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)
|
rs756282138
|
0.00003
|
NM_001267550.2(TTN):c.44223G>A (p.Thr14741=)
|
rs368830196
|
0.00003
|
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)
|
rs762128685
|
0.00003
|
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)
|
rs1455525236
|
0.00003
|
NM_001267550.2(TTN):c.46221C>T (p.Asp15407=)
|
rs370808856
|
0.00003
|
NM_001267550.2(TTN):c.4650G>A (p.Val1550=)
|
rs915170239
|
0.00003
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr)
|
rs764388462
|
0.00003
|
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=)
|
rs749308557
|
0.00003
|
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)
|
rs727505248
|
0.00003
|
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)
|
rs377141765
|
0.00003
|
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile)
|
rs567781604
|
0.00003
|
NM_001267550.2(TTN):c.52242C>T (p.Pro17414=)
|
rs765216874
|
0.00003
|
NM_001267550.2(TTN):c.53881+4C>T
|
rs187632918
|
0.00003
|
NM_001267550.2(TTN):c.54054G>A (p.Lys18018=)
|
rs761146363
|
0.00003
|
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)
|
rs200864020
|
0.00003
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr)
|
rs373351577
|
0.00003
|
NM_001267550.2(TTN):c.5698G>A (p.Val1900Met)
|
rs750823043
|
0.00003
|
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)
|
rs374203813
|
0.00003
|
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=)
|
rs376930907
|
0.00003
|
NM_001267550.2(TTN):c.58613C>A (p.Thr19538Lys)
|
rs370686112
|
0.00003
|
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)
|
rs756091180
|
0.00003
|
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr)
|
rs558670891
|
0.00003
|
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His)
|
rs758019778
|
0.00003
|
NM_001267550.2(TTN):c.62901T>C (p.Pro20967=)
|
rs1245531460
|
0.00003
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
0.00003
|
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys)
|
rs764330098
|
0.00003
|
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)
|
rs145649088
|
0.00003
|
NM_001267550.2(TTN):c.70044C>T (p.Ala23348=)
|
rs771534964
|
0.00003
|
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)
|
rs372309164
|
0.00003
|
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His)
|
rs371821218
|
0.00003
|
NM_001267550.2(TTN):c.78993A>G (p.Arg26331=)
|
rs745659756
|
0.00003
|
NM_001267550.2(TTN):c.80592A>G (p.Pro26864=)
|
rs769223218
|
0.00003
|
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)
|
rs371498697
|
0.00003
|
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=)
|
rs144731702
|
0.00003
|
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)
|
rs374022393
|
0.00003
|
NM_001267550.2(TTN):c.89295T>C (p.Ala29765=)
|
rs375374658
|
0.00003
|
NM_001267550.2(TTN):c.89313C>T (p.Val29771=)
|
rs746897918
|
0.00003
|
NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr)
|
rs754676727
|
0.00003
|
NM_001267550.2(TTN):c.90180C>T (p.Ser30060=)
|
rs1171957663
|
0.00003
|
NM_001267550.2(TTN):c.90198T>G (p.Val30066=)
|
rs761842174
|
0.00003
|
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro)
|
rs368516973
|
0.00003
|
NM_001267550.2(TTN):c.92895C>T (p.Asn30965=)
|
rs1379558944
|
0.00003
|
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys)
|
rs541040798
|
0.00003
|
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)
|
rs757836789
|
0.00003
|
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)
|
rs771385738
|
0.00003
|
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu)
|
rs201364164
|
0.00003
|
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)
|
rs371645048
|
0.00003
|
NM_001267550.2(TTN):c.98098+3G>A
|
rs556524594
|
0.00003
|
NM_001267550.2(TTN):c.98606G>A (p.Arg32869His)
|
rs587780495
|
0.00003
|
NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala)
|
rs576759867
|
0.00003
|
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=)
|
rs375178211
|
0.00003
|
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn)
|
rs148516831
|
0.00003
|
NM_001287.6(CLCN7):c.435C>T (p.Asp145=)
|
rs201964194
|
0.00003
|
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=)
|
rs200809116
|
0.00003
|
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val)
|
rs765360600
|
0.00003
|
NM_001330078.2(NRXN1):c.882C>T (p.Tyr294=)
|
rs200464704
|
0.00003
|
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met)
|
rs775272996
|
0.00003
|
NM_001349338.3(FOXP1):c.1902C>T (p.His634=)
|
rs749771909
|
0.00003
|
NM_001360.3(DHCR7):c.198C>T (p.Cys66=)
|
rs775127532
|
0.00003
|
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)
|
rs779401555
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)
|
rs565893436
|
0.00003
|
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg)
|
rs369793136
|
0.00003
|
NM_001365951.3(KIF1B):c.-5T>C
|
rs200491456
|
0.00003
|
NM_001367624.2(ZNF469):c.11278G>A (p.Glu3760Lys)
|
rs547014159
|
0.00003
|
NM_001367721.1(CASK):c.1669-9C>A
|
rs562152407
|
0.00003
|
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys)
|
rs76106850
|
0.00003
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001374385.1(ATP8B1):c.1071C>T (p.Ile357=)
|
rs775490128
|
0.00003
|
NM_001374385.1(ATP8B1):c.2418+4C>T
|
rs777913106
|
0.00003
|
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)
|
rs761765709
|
0.00003
|
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=)
|
rs553516014
|
0.00003
|
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu)
|
rs200985982
|
0.00003
|
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=)
|
rs779662045
|
0.00003
|
NM_001378414.1(HDAC4):c.1458C>T (p.Val486=)
|
rs139841625
|
0.00003
|
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=)
|
rs768929630
|
0.00003
|
NM_001379110.1(SLC9A6):c.-16C>T
|
rs139299794
|
0.00003
|
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val)
|
rs141749060
|
0.00003
|
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met)
|
rs373704405
|
0.00003
|
NM_001457.4(FLNB):c.3826G>T (p.Ala1276Ser)
|
rs199912711
|
0.00003
|
NM_001457.4(FLNB):c.6154C>T (p.Leu2052=)
|
rs372726521
|
0.00003
|
NM_001458.5(FLNC):c.2130C>T (p.Asp710=)
|
rs778781499
|
0.00003
|
NM_001458.5(FLNC):c.7291G>A (p.Val2431Met)
|
rs572952653
|
0.00003
|
NM_001605.3(AARS1):c.1275T>C (p.Thr425=)
|
rs750552137
|
0.00003
|
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=)
|
rs201121917
|
0.00003
|
NM_001701.4(BAAT):c.165C>T (p.Phe55=)
|
rs377631387
|
0.00003
|
NM_001793.6(CDH3):c.2178G>A (p.Pro726=)
|
rs398123626
|
0.00003
|
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe)
|
rs1482498887
|
0.00003
|
NM_001844.5(COL2A1):c.2410-7C>T
|
rs767041085
|
0.00003
|
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys)
|
rs748248022
|
0.00003
|
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)
|
rs376753701
|
0.00003
|
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=)
|
rs768381482
|
0.00003
|
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=)
|
rs770099663
|
0.00003
|
NM_001848.3(COL6A1):c.1693C>T (p.Arg565Ter)
|
rs1304888945
|
0.00003
|
NM_001848.3(COL6A1):c.423C>T (p.Leu141=)
|
rs373486149
|
0.00003
|
NM_001849.4(COL6A2):c.115+10G>T
|
rs200797233
|
0.00003
|
NM_001849.4(COL6A2):c.162G>A (p.Ser54=)
|
rs780123839
|
0.00003
|
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=)
|
rs150253422
|
0.00003
|
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)
|
rs566966690
|
0.00003
|
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)
|
rs373072443
|
0.00003
|
NM_001849.4(COL6A2):c.612C>T (p.Ile204=)
|
rs773143298
|
0.00003
|
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=)
|
rs776395616
|
0.00003
|
NM_001853.4(COL9A3):c.1548+7C>T
|
rs373996629
|
0.00003
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
0.00003
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
NM_002335.4(LRP5):c.1002G>A (p.Arg334=)
|
rs868085658
|
0.00003
|
NM_002335.4(LRP5):c.2241G>A (p.Leu747=)
|
rs867927445
|
0.00003
|
NM_002335.4(LRP5):c.738C>T (p.Ser246=)
|
rs768638466
|
0.00003
|
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)
|
rs863224072
|
0.00003
|
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=)
|
rs780149034
|
0.00003
|
NM_002693.3(POLG):c.1956C>T (p.Ile652=)
|
rs757860628
|
0.00003
|
NM_002693.3(POLG):c.3480C>T (p.Thr1160=)
|
rs1057521589
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_003036.4(SKI):c.970-7A>G
|
rs199634070
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)
|
rs386134193
|
0.00003
|
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)
|
rs781721860
|
0.00003
|
NM_003322.6(TULP1):c.1323+9C>T
|
rs769417336
|
0.00003
|
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=)
|
rs398123756
|
0.00003
|
NM_003742.4(ABCB11):c.126C>T (p.Gly42=)
|
rs138800291
|
0.00003
|
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)
|
rs886043807
|
0.00003
|
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)
|
rs776223452
|
0.00003
|
NM_003742.4(ABCB11):c.2523G>A (p.Gly841=)
|
rs367874361
|
0.00003
|
NM_003742.4(ABCB11):c.3060G>A (p.Val1020=)
|
rs368622067
|
0.00003
|
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=)
|
rs750944055
|
0.00003
|
NM_003742.4(ABCB11):c.3411+10G>A
|
rs188996270
|
0.00003
|
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser)
|
rs1033490064
|
0.00003
|
NM_003839.4(TNFRSF11A):c.1340C>T (p.Thr447Ile)
|
rs776173779
|
0.00003
|
NM_004006.3(DMD):c.1014A>G (p.Glu338=)
|
rs758035070
|
0.00003
|
NM_004006.3(DMD):c.1059G>A (p.Ser353=)
|
rs760621626
|
0.00003
|
NM_004006.3(DMD):c.1482+7G>T
|
rs766338928
|
0.00003
|
NM_004006.3(DMD):c.1919C>T (p.Thr640Met)
|
rs183677010
|
0.00003
|
NM_004006.3(DMD):c.2293-8T>C
|
rs377050013
|
0.00003
|
NM_004006.3(DMD):c.3096C>G (p.Leu1032=)
|
rs770148717
|
0.00003
|
NM_004006.3(DMD):c.3419A>G (p.His1140Arg)
|
rs201297190
|
0.00003
|
NM_004006.3(DMD):c.3814T>C (p.Leu1272=)
|
rs746405191
|
0.00003
|
NM_004006.3(DMD):c.4049G>A (p.Arg1350His)
|
rs750981128
|
0.00003
|
NM_004006.3(DMD):c.5530C>A (p.Arg1844=)
|
rs1064325
|
0.00003
|
NM_004006.3(DMD):c.6614+7C>T
|
rs180719577
|
0.00003
|
NM_004006.3(DMD):c.7449C>T (p.Thr2483=)
|
rs766075840
|
0.00003
|
NM_004006.3(DMD):c.8218-5T>C
|
rs183643245
|
0.00003
|
NM_004006.3(DMD):c.8520A>G (p.Ala2840=)
|
rs767304792
|
0.00003
|
NM_004006.3(DMD):c.8643A>G (p.Leu2881=)
|
rs747605156
|
0.00003
|
NM_004006.3(DMD):c.8958G>A (p.Ala2986=)
|
rs755815057
|
0.00003
|
NM_004006.3(DMD):c.960+9A>G
|
rs886038537
|
0.00003
|
NM_004082.5(DCTN1):c.414+1G>A
|
rs576198476
|
0.00003
|
NM_004183.4(BEST1):c.418C>G (p.Leu140Val)
|
rs267606678
|
0.00003
|
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys)
|
rs765385264
|
0.00003
|
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr)
|
rs773680831
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=)
|
rs114278376
|
0.00003
|
NM_004369.4(COL6A3):c.2497+9C>A
|
rs774198344
|
0.00003
|
NM_004369.4(COL6A3):c.438C>T (p.Ile146=)
|
rs781449958
|
0.00003
|
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=)
|
rs140516220
|
0.00003
|
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)
|
rs762950440
|
0.00003
|
NM_004369.4(COL6A3):c.9329-33C>T
|
rs398124137
|
0.00003
|
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)
|
rs200287696
|
0.00003
|
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=)
|
rs768100377
|
0.00003
|
NM_004447.6(EPS8):c.1230A>C (p.Gly410=)
|
rs184886917
|
0.00003
|
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg)
|
rs142386992
|
0.00003
|
NM_004560.4(ROR2):c.51C>A (p.Ala17=)
|
rs886043361
|
0.00003
|
NM_004565.3(PEX14):c.807C>T (p.Asn269=)
|
rs757658916
|
0.00003
|
NM_004606.5(TAF1):c.4948T>C (p.Leu1650=)
|
rs779320845
|
0.00003
|
NM_004744.5(LRAT):c.300C>T (p.Gly100=)
|
rs770608706
|
0.00003
|
NM_004817.4(TJP2):c.2457A>G (p.Gln819=)
|
rs988720358
|
0.00003
|
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)
|
rs771190188
|
0.00003
|
NM_005199.5(CHRNG):c.330G>A (p.Pro110=)
|
rs149931943
|
0.00003
|
NM_005422.4(TECTA):c.3493G>A (p.Val1165Met)
|
rs373132598
|
0.00003
|
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln)
|
rs555093382
|
0.00003
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=)
|
rs370558075
|
0.00003
|
NM_006204.4(PDE6C):c.1266C>T (p.Thr422=)
|
rs530593118
|
0.00003
|
NM_006204.4(PDE6C):c.205G>A (p.Val69Met)
|
rs568930062
|
0.00003
|
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)
|
rs180729424
|
0.00003
|
NM_006445.4(PRPF8):c.2619C>T (p.Asn873=)
|
rs760867601
|
0.00003
|
NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys)
|
rs147249343
|
0.00003
|
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=)
|
rs770648545
|
0.00003
|
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=)
|
rs78465857
|
0.00003
|
NM_006790.3(MYOT):c.1398T>G (p.Leu466=)
|
rs150033934
|
0.00003
|
NM_006899.5(IDH3B):c.1072-4G>A
|
rs556473702
|
0.00003
|
NM_006899.5(IDH3B):c.981G>A (p.Leu327=)
|
rs776399707
|
0.00003
|
NM_006922.4(SCN3A):c.1608C>T (p.Ser536=)
|
rs376381280
|
0.00003
|
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=)
|
rs370141420
|
0.00003
|
NM_006922.4(SCN3A):c.3744C>G (p.Thr1248=)
|
rs761584493
|
0.00003
|
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)
|
rs747244348
|
0.00003
|
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)
|
rs549000007
|
0.00003
|
NM_007294.4(BRCA1):c.4251G>A (p.Val1417=)
|
rs777057839
|
0.00003
|
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)
|
rs143747297
|
0.00003
|
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)
|
rs772686744
|
0.00003
|
NM_012210.4(TRIM32):c.-5G>A
|
rs774975492
|
0.00003
|
NM_012338.4(TSPAN12):c.440C>A (p.Thr147Asn)
|
rs759104377
|
0.00003
|
NM_012469.4(PRPF6):c.772-7C>T
|
rs558787024
|
0.00003
|
NM_013382.7(POMT2):c.1743G>A (p.Gly581=)
|
rs755254043
|
0.00003
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=)
|
rs774328147
|
0.00003
|
NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=)
|
rs753396304
|
0.00003
|
NM_014141.6(CNTNAP2):c.1896A>C (p.Thr632=)
|
rs749646225
|
0.00003
|
NM_014251.3(SLC25A13):c.615+5G>A
|
rs80338717
|
0.00003
|
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)
|
rs530250252
|
0.00003
|
NM_014425.5(INVS):c.2337G>C (p.Arg779=)
|
rs779298889
|
0.00003
|
NM_014491.4(FOXP2):c.2003+10G>C
|
rs199581885
|
0.00003
|
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met)
|
rs143438888
|
0.00003
|
NM_014795.4(ZEB2):c.2886+4A>C
|
rs754532627
|
0.00003
|
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser)
|
rs1354203259
|
0.00003
|
NM_014927.5(CNKSR2):c.1458A>G (p.Arg486=)
|
rs760890681
|
0.00003
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00003
|
NM_015102.5(NPHP4):c.2611+1G>A
|
rs374141736
|
0.00003
|
NM_015102.5(NPHP4):c.2646C>T (p.Asp882=)
|
rs774354969
|
0.00003
|
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=)
|
rs371527260
|
0.00003
|
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu)
|
rs151311806
|
0.00003
|
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=)
|
rs147321202
|
0.00003
|
NM_015404.4(WHRN):c.1473C>T (p.Phe491=)
|
rs886044241
|
0.00003
|
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)
|
rs771720649
|
0.00003
|
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln)
|
rs139105788
|
0.00003
|
NM_016356.5(DCDC2):c.1359A>G (p.Pro453=)
|
rs374448795
|
0.00003
|
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
|
rs201518848
|
0.00003
|
NM_017777.4(MKS1):c.813C>T (p.His271=)
|
rs201961765
|
0.00003
|
NM_017780.4(CHD7):c.2614-7G>T
|
rs762399977
|
0.00003
|
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=)
|
rs367615733
|
0.00003
|
NM_018136.5(ASPM):c.8821-9A>G
|
rs375911555
|
0.00003
|
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)
|
rs140367649
|
0.00003
|
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=)
|
rs149927148
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=)
|
rs776501112
|
0.00003
|
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)
|
rs111033490
|
0.00003
|
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=)
|
rs191154178
|
0.00003
|
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=)
|
rs766541944
|
0.00003
|
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)
|
rs188966938
|
0.00003
|
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)
|
rs771006240
|
0.00003
|
NM_022436.3(ABCG5):c.408C>T (p.Asp136=)
|
rs141386201
|
0.00003
|
NM_022436.3(ABCG5):c.834G>A (p.Ala278=)
|
rs373182673
|
0.00003
|
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=)
|
rs371968769
|
0.00003
|
NM_022455.5(NSD1):c.2765C>T (p.Thr922Met)
|
rs753460351
|
0.00003
|
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg)
|
rs764231926
|
0.00003
|
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)
|
rs570278983
|
0.00003
|
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile)
|
rs774169673
|
0.00003
|
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)
|
rs763189481
|
0.00003
|
NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter)
|
rs755097467
|
0.00003
|
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=)
|
rs138943874
|
0.00003
|
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=)
|
rs118188023
|
0.00003
|
NM_024408.4(NOTCH2):c.6028-4G>A
|
rs372465730
|
0.00003
|
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr)
|
rs779311707
|
0.00003
|
NM_024529.5(CDC73):c.1418-4A>G
|
rs1269877061
|
0.00003
|
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=)
|
rs201779392
|
0.00003
|
NM_024596.5(MCPH1):c.297C>T (p.His99=)
|
rs727504012
|
0.00003
|
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
NM_024757.5(EHMT1):c.86-5G>A
|
rs371370370
|
0.00003
|
NM_025074.7(FRAS1):c.8752+9T>C
|
rs191984935
|
0.00003
|
NM_030665.4(RAI1):c.195G>A (p.Thr65=)
|
rs377342940
|
0.00003
|
NM_030665.4(RAI1):c.5023G>C (p.Val1675Leu)
|
rs113210810
|
0.00003
|
NM_030665.4(RAI1):c.660C>T (p.Ser220=)
|
rs756623054
|
0.00003
|
NM_031407.7(HUWE1):c.11996+9C>T
|
rs782772316
|
0.00003
|
NM_032119.4(ADGRV1):c.10051C>T (p.Leu3351=)
|
rs1445890457
|
0.00003
|
NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys)
|
rs753667658
|
0.00003
|
NM_032119.4(ADGRV1):c.16226G>A (p.Arg5409Gln)
|
rs567881943
|
0.00003
|
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)
|
rs201073459
|
0.00003
|
NM_032119.4(ADGRV1):c.17857-6T>C
|
rs773357747
|
0.00003
|
NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr)
|
rs765800403
|
0.00003
|
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=)
|
rs376904160
|
0.00003
|
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=)
|
rs759771981
|
0.00003
|
NM_032119.4(ADGRV1):c.2885C>G (p.Ser962Cys)
|
rs759360751
|
0.00003
|
NM_032119.4(ADGRV1):c.5313+4A>G
|
rs748976832
|
0.00003
|
NM_032119.4(ADGRV1):c.5658A>G (p.Thr1886=)
|
rs377468788
|
0.00003
|
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile)
|
rs764987437
|
0.00003
|
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=)
|
rs144488384
|
0.00003
|
NM_033100.4(CDHR1):c.1A>G (p.Met1Val)
|
rs794726954
|
0.00003
|
NM_054027.6(ANKH):c.27C>T (p.His9=)
|
rs199583793
|
0.00003
|
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)
|
rs754982440
|
0.00003
|
NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser)
|
rs761687232
|
0.00003
|
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys)
|
rs369849667
|
0.00003
|
NM_080916.3(DGUOK):c.444-11C>G
|
rs536746349
|
0.00003
|
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)
|
rs749063844
|
0.00003
|
NM_130837.3(OPA1):c.33-8T>C
|
rs370303596
|
0.00003
|
NM_130837.3(OPA1):c.448+50A>G
|
rs377239493
|
0.00003
|
NM_130839.5(UBE3A):c.*4A>G
|
rs755581358
|
0.00003
|
NM_130839.5(UBE3A):c.582A>G (p.Ala194=)
|
rs764101035
|
0.00003
|
NM_130839.5(UBE3A):c.789C>T (p.Asn263=)
|
rs1453409055
|
0.00003
|
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=)
|
rs199886720
|
0.00003
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_139343.3(BIN1):c.1003-16C>T
|
rs547659375
|
0.00003
|
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=)
|
rs760564848
|
0.00003
|
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala)
|
rs112749780
|
0.00003
|
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=)
|
rs886043216
|
0.00003
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
NM_152594.3(SPRED1):c.684+50A>T
|
rs200338097
|
0.00003
|
NM_153240.5(NPHP3):c.189G>C (p.Gly63=)
|
rs750280281
|
0.00003
|
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)
|
rs769832219
|
0.00003
|
NM_170707.4(LMNA):c.78C>T (p.Ile26=)
|
rs373721390
|
0.00003
|
NM_170784.3(MKKS):c.1161+4G>A
|
rs761886025
|
0.00003
|
NM_181486.4(TBX5):c.828C>T (p.Ser276=)
|
rs146908258
|
0.00003
|
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=)
|
rs138882800
|
0.00003
|
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=)
|
rs760332489
|
0.00003
|
NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr)
|
rs376327805
|
0.00003
|
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)
|
rs143851739
|
0.00003
|
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=)
|
rs760209358
|
0.00003
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)
|
rs143118084
|
0.00003
|
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=)
|
rs750669148
|
0.00003
|
NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg)
|
rs557350925
|
0.00003
|
NM_182961.4(SYNE1):c.5250A>G (p.Pro1750=)
|
rs368364250
|
0.00003
|
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp)
|
rs774530840
|
0.00003
|
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His)
|
rs200283244
|
0.00003
|
NM_198253.3(TERT):c.150G>A (p.Leu50=)
|
rs886044153
|
0.00003
|
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter)
|
rs794727316
|
0.00003
|
NM_201384.3(PLEC):c.12585C>T (p.Ile4195=)
|
rs1002095432
|
0.00003
|
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=)
|
rs549882307
|
0.00003
|
NM_201384.3(PLEC):c.2550C>G (p.Ala850=)
|
rs376777606
|
0.00003
|
NM_201384.3(PLEC):c.3501C>T (p.His1167=)
|
rs782038506
|
0.00003
|
NM_201384.3(PLEC):c.366T>C (p.Asn122=)
|
rs782096761
|
0.00003
|
NM_201384.3(PLEC):c.3955C>T (p.Leu1319=)
|
rs201416081
|
0.00003
|
NM_201384.3(PLEC):c.678G>A (p.Ala226=)
|
rs782369854
|
0.00003
|
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln)
|
rs782618396
|
0.00003
|
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr)
|
rs199995144
|
0.00003
|
NM_206933.4(USH2A):c.10497T>C (p.Pro3499=)
|
rs749177032
|
0.00003
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
NM_206933.4(USH2A):c.6618A>G (p.Gln2206=)
|
rs745614158
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln)
|
rs151332020
|
0.00003
|
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp)
|
rs114837786
|
0.00003
|
NM_213599.3(ANO5):c.1689T>C (p.Phe563=)
|
rs527322470
|
0.00003
|
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)
|
rs749698519
|
0.00003
|
NM_213599.3(ANO5):c.2176dup (p.Ser726fs)
|
rs797044667
|
0.00003
|
NM_213599.3(ANO5):c.276A>G (p.Lys92=)
|
rs201678262
|
0.00003
|
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe)
|
rs772929002
|
0.00003
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000016.6(ACADM):c.617G>A (p.Arg206His)
|
rs200724875
|
0.00002
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000035.4(ALDOB):c.465C>T (p.Ala155=)
|
rs569981883
|
0.00002
|
NM_000036.3(AMPD1):c.144G>A (p.Pro48=)
|
rs145786786
|
0.00002
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)
|
rs80359114
|
0.00002
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)
|
rs371784007
|
0.00002
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00002
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
NM_000092.5(COL4A4):c.372+7A>G
|
rs1483461114
|
0.00002
|
NM_000117.3(EMD):c.662G>T (p.Arg221Leu)
|
rs782057378
|
0.00002
|
NM_000127.3(EXT1):c.2148G>A (p.Pro716=)
|
rs757499157
|
0.00002
|
NM_000141.5(FGFR2):c.2040C>T (p.Tyr680=)
|
rs751495618
|
0.00002
|
NM_000141.5(FGFR2):c.2106G>A (p.Ser702=)
|
rs794727163
|
0.00002
|
NM_000152.5(GAA):c.-2C>T
|
rs560511228
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000156.6(GAMT):c.189G>C (p.Arg63=)
|
rs568392459
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000214.3(JAG1):c.2199C>T (p.Gly733=)
|
rs756062969
|
0.00002
|
NM_000214.3(JAG1):c.2739C>T (p.Ser913=)
|
rs766479402
|
0.00002
|
NM_000214.3(JAG1):c.388-4G>C
|
rs567027490
|
0.00002
|
NM_000214.3(JAG1):c.489C>T (p.Pro163=)
|
rs376298235
|
0.00002
|
NM_000235.4(LIPA):c.1077G>A (p.Gln359=)
|
rs538507117
|
0.00002
|
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)
|
rs41307292
|
0.00002
|
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)
|
rs200728597
|
0.00002
|
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=)
|
rs782397746
|
0.00002
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399
|
0.00002
|
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=)
|
rs1479835169
|
0.00002
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
NM_000286.3(PEX12):c.570A>G (p.Ser190=)
|
rs758132842
|
0.00002
|
NM_000295.5(SERPINA1):c.1065+6A>T
|
rs79078626
|
0.00002
|
NM_000318.3(PEX2):c.174G>A (p.Ala58=)
|
rs150987080
|
0.00002
|
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn)
|
rs373150395
|
0.00002
|
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=)
|
rs753725579
|
0.00002
|
NM_000336.3(SCNN1B):c.1663C>T (p.Leu555=)
|
rs779990343
|
0.00002
|
NM_000337.6(SGCD):c.193-7A>G
|
rs747018859
|
0.00002
|
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)
|
rs281865402
|
0.00002
|
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)
|
rs767729255
|
0.00002
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
0.00002
|
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)
|
rs375956049
|
0.00002
|
NM_000390.4(CHM):c.1771-8T>C
|
rs912390081
|
0.00002
|
NM_000391.4(TPP1):c.1552-9C>T
|
rs369699167
|
0.00002
|
NM_000392.5(ABCC2):c.306C>A (p.Thr102=)
|
rs559908064
|
0.00002
|
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=)
|
rs4148401
|
0.00002
|
NM_000392.5(ABCC2):c.4431G>A (p.Thr1477=)
|
rs146718433
|
0.00002
|
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp)
|
rs780820166
|
0.00002
|
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn)
|
rs191468413
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000430.4(PAFAH1B1):c.569-4T>G
|
rs765106555
|
0.00002
|
NM_000443.4(ABCB4):c.201C>T (p.His67=)
|
rs747703354
|
0.00002
|
NM_000443.4(ABCB4):c.2211+1G>A
|
rs794727183
|
0.00002
|
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=)
|
rs1461886025
|
0.00002
|
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=)
|
rs766402494
|
0.00002
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
NM_000443.4(ABCB4):c.54G>A (p.Glu18=)
|
rs141141860
|
0.00002
|
NM_000443.4(ABCB4):c.717G>A (p.Ser239=)
|
rs770169131
|
0.00002
|
NM_000444.6(PHEX):c.1675T>C (p.Phe559Leu)
|
rs762828809
|
0.00002
|
NM_000452.3(SLC10A2):c.190C>T (p.Arg64Trp)
|
rs142620512
|
0.00002
|
NM_000452.3(SLC10A2):c.246A>G (p.Thr82=)
|
rs761652195
|
0.00002
|
NM_000463.3(UGT1A1):c.-4C>T
|
rs752018052
|
0.00002
|
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu)
|
rs886043066
|
0.00002
|
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)
|
rs1434174453
|
0.00002
|
NM_000487.6(ARSA):c.930C>T (p.Gly310=)
|
rs767751622
|
0.00002
|
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)
|
rs774643457
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)
|
rs547248892
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000521.4(HEXB):c.1614-16_1615dup
|
rs1554037309
|
0.00002
|
NM_000540.3(RYR1):c.14817C>T (p.Asp4939=)
|
rs193922895
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)
|
rs374115286
|
0.00002
|
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=)
|
rs775744847
|
0.00002
|
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)
|
rs398123473
|
0.00002
|
NM_000540.3(RYR1):c.7615-5C>T
|
rs768008924
|
0.00002
|
NM_000543.5(SMPD1):c.102C>G (p.Gly34=)
|
rs889113421
|
0.00002
|
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)
|
rs372287825
|
0.00002
|
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)
|
rs575601110
|
0.00002
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000548.5(TSC2):c.1818C>T (p.Ile606=)
|
rs547389841
|
0.00002
|
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=)
|
rs754951889
|
0.00002
|
NM_000548.5(TSC2):c.354C>G (p.Val118=)
|
rs762228318
|
0.00002
|
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)
|
rs201599540
|
0.00002
|
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=)
|
rs150999168
|
0.00002
|
NM_000601.6(HGF):c.2019T>C (p.Tyr673=)
|
rs367800414
|
0.00002
|
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=)
|
rs527741368
|
0.00002
|
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=)
|
rs794727118
|
0.00002
|
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr)
|
rs767138285
|
0.00002
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
NM_000823.4(GHRHR):c.870C>T (p.Val290=)
|
rs369716383
|
0.00002
|
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val)
|
rs794727879
|
0.00002
|
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter)
|
rs531009160
|
0.00002
|
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp)
|
rs201706430
|
0.00002
|
NM_001034850.3(RETREG1):c.1182T>C (p.Ala394=)
|
rs886043753
|
0.00002
|
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)
|
rs398123540
|
0.00002
|
NM_001039141.3(TRIOBP):c.6472+19_6472+20insA
|
rs397769084
|
0.00002
|
NM_001040167.2(LFNG):c.774C>T (p.Gly258=)
|
rs770507072
|
0.00002
|
NM_001042432.2(CLN3):c.240G>A (p.Thr80=)
|
rs373911322
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.1698+6C>T
|
rs180847856
|
0.00002
|
NM_001077525.3(MTMR14):c.540G>A (p.Glu180=)
|
rs993417750
|
0.00002
|
NM_001079802.2(FKTN):c.342A>G (p.Ala114=)
|
rs368598407
|
0.00002
|
NM_001079802.2(FKTN):c.63G>C (p.Leu21=)
|
rs766642997
|
0.00002
|
NM_001083961.2(WDR62):c.3514+1G>A
|
rs199736219
|
0.00002
|
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=)
|
rs368815582
|
0.00002
|
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=)
|
rs886043287
|
0.00002
|
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=)
|
rs766874330
|
0.00002
|
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr)
|
rs886044859
|
0.00002
|
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)
|
rs782129236
|
0.00002
|
NM_001110556.2(FLNA):c.623-7G>A
|
rs782670288
|
0.00002
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=)
|
rs886044781
|
0.00002
|
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys)
|
rs957057964
|
0.00002
|
NM_001114753.3(ENG):c.1572C>T (p.Pro524=)
|
rs760682477
|
0.00002
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
NM_001127671.2(LIFR):c.1485T>C (p.Ala495=)
|
rs759537735
|
0.00002
|
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)
|
rs368482631
|
0.00002
|
NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=)
|
rs539948794
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
NM_001159699.2(FHL1):c.447G>A (p.Lys149=)
|
rs768142579
|
0.00002
|
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120
|
0.00002
|
NM_001165963.4(SCN1A):c.4284+7G>A
|
rs745918943
|
0.00002
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
NM_001177316.2(SLC34A3):c.449-3C>T
|
rs757092241
|
0.00002
|
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=)
|
rs376946966
|
0.00002
|
NM_001193315.2(VIPAS39):c.1005A>T (p.Thr335=)
|
rs765454382
|
0.00002
|
NM_001193315.2(VIPAS39):c.1164C>T (p.Ala388=)
|
rs886043868
|
0.00002
|
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)
|
rs267607105
|
0.00002
|
NM_001256317.3(TMPRSS3):c.999C>T (p.Pro333=)
|
rs192630206
|
0.00002
|
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)
|
rs727504677
|
0.00002
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=)
|
rs773408387
|
0.00002
|
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)
|
rs770742837
|
0.00002
|
NM_001267550.2(TTN):c.105261G>A (p.Thr35087=)
|
rs556741970
|
0.00002
|
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)
|
rs727504491
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg)
|
rs776981475
|
0.00002
|
NM_001267550.2(TTN):c.107628del (p.Asn35876fs)
|
rs766624923
|
0.00002
|
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn)
|
rs768211726
|
0.00002
|
NM_001267550.2(TTN):c.15430G>A (p.Glu5144Lys)
|
rs766612317
|
0.00002
|
NM_001267550.2(TTN):c.16738A>G (p.Asn5580Asp)
|
rs376598696
|
0.00002
|
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)
|
rs770260995
|
0.00002
|
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys)
|
rs753136638
|
0.00002
|
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)
|
rs201395913
|
0.00002
|
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=)
|
rs750180579
|
0.00002
|
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val)
|
rs761223583
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.23076C>T (p.Cys7692=)
|
rs769505705
|
0.00002
|
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met)
|
rs371496970
|
0.00002
|
NM_001267550.2(TTN):c.26557G>C (p.Val8853Leu)
|
rs757381520
|
0.00002
|
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)
|
rs781351100
|
0.00002
|
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu)
|
rs72648995
|
0.00002
|
NM_001267550.2(TTN):c.28175-10C>T
|
rs748478445
|
0.00002
|
NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser)
|
rs753121692
|
0.00002
|
NM_001267550.2(TTN):c.29937C>T (p.Ile9979=)
|
rs878892843
|
0.00002
|
NM_001267550.2(TTN):c.32471-6C>T
|
rs763361422
|
0.00002
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
NM_001267550.2(TTN):c.39099T>C (p.Pro13033=)
|
rs755793186
|
0.00002
|
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro)
|
rs766921440
|
0.00002
|
NM_001267550.2(TTN):c.39368C>T (p.Ala13123Val)
|
rs761828404
|
0.00002
|
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)
|
rs398124450
|
0.00002
|
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)
|
rs775889693
|
0.00002
|
NM_001267550.2(TTN):c.42892G>A (p.Glu14298Lys)
|
rs778634417
|
0.00002
|
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)
|
rs148528251
|
0.00002
|
NM_001267550.2(TTN):c.43653T>C (p.His14551=)
|
rs768244114
|
0.00002
|
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)
|
rs757006832
|
0.00002
|
NM_001267550.2(TTN):c.49032G>A (p.Val16344=)
|
rs587780980
|
0.00002
|
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)
|
rs749312983
|
0.00002
|
NM_001267550.2(TTN):c.53443A>G (p.Ile17815Val)
|
rs368065637
|
0.00002
|
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)
|
rs727503693
|
0.00002
|
NM_001267550.2(TTN):c.54314G>A (p.Arg18105His)
|
rs760383112
|
0.00002
|
NM_001267550.2(TTN):c.574C>T (p.Leu192=)
|
rs767983460
|
0.00002
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)
|
rs727504490
|
0.00002
|
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)
|
rs397517657
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)
|
rs397517693
|
0.00002
|
NM_001267550.2(TTN):c.65300T>C (p.Ile21767Thr)
|
rs762578274
|
0.00002
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
NM_001267550.2(TTN):c.66372C>T (p.Thr22124=)
|
rs756981729
|
0.00002
|
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)
|
rs548223512
|
0.00002
|
NM_001267550.2(TTN):c.69204C>A (p.Gly23068=)
|
rs188919648
|
0.00002
|
NM_001267550.2(TTN):c.6945A>G (p.Thr2315=)
|
rs879103814
|
0.00002
|
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)
|
rs201448988
|
0.00002
|
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=)
|
rs72646887
|
0.00002
|
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp)
|
rs760509116
|
0.00002
|
NM_001267550.2(TTN):c.7057+2dup
|
rs765019023
|
0.00002
|
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)
|
rs568193318
|
0.00002
|
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr)
|
rs769320596
|
0.00002
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)
|
rs565784637
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001267550.2(TTN):c.7524T>C (p.His2508=)
|
rs2291307
|
0.00002
|
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys)
|
rs397517702
|
0.00002
|
NM_001267550.2(TTN):c.76482C>T (p.Asp25494=)
|
rs370908118
|
0.00002
|
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)
|
rs761713195
|
0.00002
|
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile)
|
rs746222222
|
0.00002
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu)
|
rs766419568
|
0.00002
|
NM_001267550.2(TTN):c.86045C>T (p.Pro28682Leu)
|
rs760467197
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)
|
rs140025425
|
0.00002
|
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr)
|
rs782331927
|
0.00002
|
NM_001278116.2(L1CAM):c.1379+3G>A
|
rs782455321
|
0.00002
|
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=)
|
rs201372074
|
0.00002
|
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=)
|
rs202082978
|
0.00002
|
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=)
|
rs782223025
|
0.00002
|
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
|
rs756986206
|
0.00002
|
NM_001330078.2(NRXN1):c.1320+10G>A
|
rs113028018
|
0.00002
|
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=)
|
rs146982102
|
0.00002
|
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile)
|
rs780940263
|
0.00002
|
NM_001349206.2(LPIN1):c.1044C>T (p.Ser348=)
|
rs775088748
|
0.00002
|
NM_001351132.2(PEX5):c.1111-4C>G
|
rs376699778
|
0.00002
|
NM_001353214.3(DYM):c.288-10G>A
|
rs557407004
|
0.00002
|
NM_001358921.2(COQ2):c.868C>T (p.Leu290=)
|
rs375066516
|
0.00002
|
NM_001367721.1(CASK):c.1419A>G (p.Pro473=)
|
rs764194945
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu)
|
rs372925840
|
0.00002
|
NM_001374385.1(ATP8B1):c.1029+5T>C
|
rs200663890
|
0.00002
|
NM_001374385.1(ATP8B1):c.3532-8C>G
|
rs1322207888
|
0.00002
|
NM_001374385.1(ATP8B1):c.3553T>C (p.Leu1185=)
|
rs751410046
|
0.00002
|
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=)
|
rs749647281
|
0.00002
|
NM_001377.3(DYNC2H1):c.1360+2del
|
rs780539887
|
0.00002
|
NM_001378120.1(MBD5):c.258C>T (p.Thr86=)
|
rs542137271
|
0.00002
|
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=)
|
rs775482774
|
0.00002
|
NM_001378454.1(ALMS1):c.9050A>G (p.Asn3017Ser)
|
rs768218725
|
0.00002
|
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)
|
rs368116362
|
0.00002
|
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=)
|
rs377575861
|
0.00002
|
NM_001384140.1(PCDH15):c.3009+7G>A
|
rs201161336
|
0.00002
|
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His)
|
rs752356781
|
0.00002
|
NM_001385.3(DPYS):c.424-1G>A
|
rs879851088
|
0.00002
|
NM_001386393.1(PANK2):c.744A>C (p.Ser248=)
|
rs778370524
|
0.00002
|
NM_001457.4(FLNB):c.6497C>T (p.Thr2166Met)
|
rs199939739
|
0.00002
|
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)
|
rs576402053
|
0.00002
|
NM_001458.5(FLNC):c.2008-7C>T
|
rs767576240
|
0.00002
|
NM_001458.5(FLNC):c.3243G>A (p.Ala1081=)
|
rs534482249
|
0.00002
|
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val)
|
rs200233856
|
0.00002
|
NM_001458.5(FLNC):c.8070G>T (p.Arg2690=)
|
rs373087529
|
0.00002
|
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met)
|
rs531239712
|
0.00002
|
NM_001701.4(BAAT):c.102A>T (p.Ala34=)
|
rs774722346
|
0.00002
|
NM_001701.4(BAAT):c.903A>T (p.Thr301=)
|
rs767910529
|
0.00002
|
NM_001830.4(CLCN4):c.1503G>A (p.Arg501=)
|
rs398123627
|
0.00002
|
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=)
|
rs755517458
|
0.00002
|
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=)
|
rs554488169
|
0.00002
|
NM_001845.6(COL4A1):c.1897+7C>G
|
rs773791331
|
0.00002
|
NM_001848.3(COL6A1):c.2712C>T (p.Val904=)
|
rs780582491
|
0.00002
|
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)
|
rs201835072
|
0.00002
|
NM_001848.3(COL6A1):c.717C>T (p.Ile239=)
|
rs775349013
|
0.00002
|
NM_001848.3(COL6A1):c.859-18T>A
|
rs398123641
|
0.00002
|
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
|
rs142002945
|
0.00002
|
NM_001852.4(COL9A2):c.1857C>G (p.Pro619=)
|
rs771660985
|
0.00002
|
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser)
|
rs774823793
|
0.00002
|
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=)
|
rs762511819
|
0.00002
|
NM_001927.4(DES):c.708C>T (p.Ile236=)
|
rs886044078
|
0.00002
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg)
|
rs1303880423
|
0.00002
|
NM_002397.5(MEF2C):c.489A>G (p.Ser163=)
|
rs781632867
|
0.00002
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
NM_002471.4(MYH6):c.2217T>C (p.Asp739=)
|
rs374177807
|
0.00002
|
NM_002473.6(MYH9):c.108C>T (p.Ser36=)
|
rs764743124
|
0.00002
|
NM_002473.6(MYH9):c.3591C>T (p.Ala1197=)
|
rs549408462
|
0.00002
|
NM_002485.5(NBN):c.120G>T (p.Ser40=)
|
rs774989816
|
0.00002
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
NM_002693.3(POLG):c.1250+5G>T
|
rs751221993
|
0.00002
|
NM_002693.3(POLG):c.1929T>C (p.Ala643=)
|
rs745800212
|
0.00002
|
NM_002693.3(POLG):c.2019C>T (p.Ala673=)
|
rs557179508
|
0.00002
|
NM_002693.3(POLG):c.3104+8C>A
|
rs754615624
|
0.00002
|
NM_002693.3(POLG):c.33C>T (p.Gly11=)
|
rs1482684558
|
0.00002
|
NM_002693.3(POLG):c.3630C>T (p.Tyr1210=)
|
rs139562274
|
0.00002
|
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)
|
rs121434582
|
0.00002
|
NM_002880.4(RAF1):c.1668+4A>G
|
rs771344560
|
0.00002
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
NM_003049.4(SLC10A1):c.936T>G (p.Thr312=)
|
rs201142538
|
0.00002
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=)
|
rs532098737
|
0.00002
|
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)
|
rs1291760879
|
0.00002
|
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)
|
rs763526610
|
0.00002
|
NM_003742.4(ABCB11):c.2799G>T (p.Leu933=)
|
rs1057164807
|
0.00002
|
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)
|
rs72549396
|
0.00002
|
NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
|
rs765950547
|
0.00002
|
NM_004006.3(DMD):c.10911G>A (p.Ser3637=)
|
rs747939733
|
0.00002
|
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr)
|
rs754158494
|
0.00002
|
NM_004006.3(DMD):c.159C>A (p.Leu53=)
|
rs762245872
|
0.00002
|
NM_004006.3(DMD):c.2210G>A (p.Arg737His)
|
rs773358704
|
0.00002
|
NM_004006.3(DMD):c.2828G>A (p.Arg943His)
|
rs398123911
|
0.00002
|
NM_004006.3(DMD):c.2967G>T (p.Leu989=)
|
rs760097427
|
0.00002
|
NM_004006.3(DMD):c.3327T>C (p.Asn1109=)
|
rs775591219
|
0.00002
|
NM_004006.3(DMD):c.3663A>G (p.Val1221=)
|
rs750549006
|
0.00002
|
NM_004006.3(DMD):c.4345-8C>T
|
rs886044675
|
0.00002
|
NM_004006.3(DMD):c.4851T>G (p.Thr1617=)
|
rs143719666
|
0.00002
|
NM_004006.3(DMD):c.5827A>G (p.Met1943Val)
|
rs181849614
|
0.00002
|
NM_004006.3(DMD):c.7602C>T (p.Ala2534=)
|
rs748309027
|
0.00002
|
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg)
|
rs750640802
|
0.00002
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00002
|
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys)
|
rs368114420
|
0.00002
|
NM_004187.5(KDM5C):c.2662C>T (p.Arg888Cys)
|
rs376775932
|
0.00002
|
NM_004260.4(RECQL4):c.969C>T (p.Ser323=)
|
rs745658597
|
0.00002
|
NM_004333.6(BRAF):c.138+17C>G
|
rs756400234
|
0.00002
|
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=)
|
rs376912950
|
0.00002
|
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=)
|
rs768242367
|
0.00002
|
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=)
|
rs561804945
|
0.00002
|
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)
|
rs542411896
|
0.00002
|
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)
|
rs563813743
|
0.00002
|
NM_004463.3(FGD1):c.771C>T (p.Pro257=)
|
rs757589705
|
0.00002
|
NM_004482.4(GALNT3):c.892del (p.Tyr298fs)
|
rs762936774
|
0.00002
|
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser)
|
rs118192252
|
0.00002
|
NM_004530.6(MMP2):c.105C>T (p.Ile35=)
|
rs764055331
|
0.00002
|
NM_004560.4(ROR2):c.1236C>T (p.Ile412=)
|
rs752218712
|
0.00002
|
NM_004565.3(PEX14):c.-7C>T
|
rs774075581
|
0.00002
|
NM_004565.3(PEX14):c.170-4C>A
|
rs764907398
|
0.00002
|
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu)
|
rs727504081
|
0.00002
|
NM_004813.4(PEX16):c.885C>T (p.Ser295=)
|
rs200415017
|
0.00002
|
NM_004817.4(TJP2):c.2775G>A (p.Thr925=)
|
rs374453976
|
0.00002
|
NM_004817.4(TJP2):c.2832G>A (p.Pro944=)
|
rs191634088
|
0.00002
|
NM_004817.4(TJP2):c.972G>T (p.Gly324=)
|
rs372333417
|
0.00002
|
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=)
|
rs1471365409
|
0.00002
|
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=)
|
rs755457098
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)
|
rs371614773
|
0.00002
|
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu)
|
rs398124203
|
0.00002
|
NM_005477.3(HCN4):c.2370T>C (p.Ser790=)
|
rs747648596
|
0.00002
|
NM_005633.4(SOS1):c.39A>G (p.Glu13=)
|
rs763337946
|
0.00002
|
NM_005670.4(EPM2A):c.620G>A (p.Arg207His)
|
rs571938170
|
0.00002
|
NM_005857.5(ZMPSTE24):c.750G>A (p.Thr250=)
|
rs750229142
|
0.00002
|
NM_005989.4(AKR1D1):c.336T>C (p.Asp112=)
|
rs200261541
|
0.00002
|
NM_006019.4(TCIRG1):c.1710G>A (p.Thr570=)
|
rs199696448
|
0.00002
|
NM_006059.4(LAMC3):c.3624G>A (p.Glu1208=)
|
rs569440839
|
0.00002
|
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)
|
rs775353413
|
0.00002
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys)
|
rs765033647
|
0.00002
|
NM_006899.5(IDH3B):c.1011-9T>C
|
rs746209011
|
0.00002
|
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg)
|
rs121918375
|
0.00002
|
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=)
|
rs76144052
|
0.00002
|
NM_007126.5(VCP):c.1863C>T (p.Gly621=)
|
rs376510669
|
0.00002
|
NM_007126.5(VCP):c.2214A>G (p.Glu738=)
|
rs374391034
|
0.00002
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
0.00002
|
NM_007254.4(PNKP):c.1030-5C>T
|
rs374745816
|
0.00002
|
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
|
rs786201784
|
0.00002
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
NM_007294.4(BRCA1):c.522A>G (p.Gln174=)
|
rs765432756
|
0.00002
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)
|
rs730881018
|
0.00002
|
NM_012210.4(TRIM32):c.1140C>T (p.Thr380=)
|
rs142715198
|
0.00002
|
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)
|
rs121434447
|
0.00002
|
NM_012210.4(TRIM32):c.1530A>G (p.Leu510=)
|
rs145728860
|
0.00002
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_012210.4(TRIM32):c.807G>A (p.Leu269=)
|
rs1184553729
|
0.00002
|
NM_012301.4(MAGI2):c.1530C>T (p.Tyr510=)
|
rs201057526
|
0.00002
|
NM_012301.4(MAGI2):c.2830T>C (p.Ser944Pro)
|
rs751956751
|
0.00002
|
NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile)
|
rs587780389
|
0.00002
|
NM_012469.4(PRPF6):c.1368G>A (p.Ala456=)
|
rs139828718
|
0.00002
|
NM_012469.4(PRPF6):c.171G>C (p.Gly57=)
|
rs749669162
|
0.00002
|
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs)
|
rs773574448
|
0.00002
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_013382.7(POMT2):c.1654-8T>G
|
rs780532724
|
0.00002
|
NM_014014.5(SNRNP200):c.6093-7C>A
|
rs201143866
|
0.00002
|
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=)
|
rs373335368
|
0.00002
|
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys)
|
rs76475298
|
0.00002
|
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)
|
rs144494809
|
0.00002
|
NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=)
|
rs765192701
|
0.00002
|
NM_014319.5(LEMD3):c.636G>A (p.Gly212=)
|
rs771253349
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_014363.6(SACS):c.7466C>A (p.Pro2489His)
|
rs766553685
|
0.00002
|
NM_014780.5(CUL7):c.3861C>T (p.Ala1287=)
|
rs745678508
|
0.00002
|
NM_014795.4(ZEB2):c.2766A>T (p.Pro922=)
|
rs185223937
|
0.00002
|
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter)
|
rs780849567
|
0.00002
|
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter)
|
rs753018563
|
0.00002
|
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=)
|
rs751938743
|
0.00002
|
NM_015141.4(GPD1L):c.787C>T (p.Leu263=)
|
rs754888410
|
0.00002
|
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=)
|
rs767616734
|
0.00002
|
NM_015311.3(OBSL1):c.1215C>T (p.Asp405=)
|
rs564010604
|
0.00002
|
NM_015340.4(LARS2):c.556C>T (p.Gln186Ter)
|
rs1163473923
|
0.00002
|
NM_015559.3(SETBP1):c.1933G>A (p.Glu645Lys)
|
rs770454352
|
0.00002
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
NM_017777.4(MKS1):c.279C>T (p.Tyr93=)
|
rs187870415
|
0.00002
|
NM_017777.4(MKS1):c.644+9C>T
|
rs754404940
|
0.00002
|
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)
|
rs386834053
|
0.00002
|
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val)
|
rs886044534
|
0.00002
|
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr)
|
rs727503870
|
0.00002
|
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)
|
rs773023974
|
0.00002
|
NM_018006.5(TRMU):c.18C>T (p.His6=)
|
rs527315924
|
0.00002
|
NM_018006.5(TRMU):c.83-4G>A
|
rs369925943
|
0.00002
|
NM_018136.5(ASPM):c.2103G>A (p.Gln701=)
|
rs370972881
|
0.00002
|
NM_018136.5(ASPM):c.2205G>A (p.Glu735=)
|
rs755350285
|
0.00002
|
NM_018136.5(ASPM):c.6849C>G (p.Leu2283=)
|
rs756622578
|
0.00002
|
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)
|
rs767713084
|
0.00002
|
NM_018668.5(VPS33B):c.1014C>T (p.His338=)
|
rs765002211
|
0.00002
|
NM_018668.5(VPS33B):c.1225+5G>C
|
rs398122407
|
0.00002
|
NM_018668.5(VPS33B):c.198A>G (p.Leu66=)
|
rs1416595652
|
0.00002
|
NM_018965.4(TREM2):c.677-6T>C
|
rs199910080
|
0.00002
|
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)
|
rs119103217
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_020247.5(COQ8A):c.1742dup (p.Ser582fs)
|
rs772127266
|
0.00002
|
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys)
|
rs978886878
|
0.00002
|
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=)
|
rs759272412
|
0.00002
|
NM_020754.4(ARHGAP31):c.2412G>A (p.Pro804=)
|
rs776194035
|
0.00002
|
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp)
|
rs532620254
|
0.00002
|
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=)
|
rs764574987
|
0.00002
|
NM_020975.6(RET):c.867+4del
|
rs398124368
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_022436.3(ABCG5):c.282G>A (p.Thr94=)
|
rs756339433
|
0.00002
|
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)
|
rs777411661
|
0.00002
|
NM_022436.3(ABCG5):c.804C>T (p.Phe268=)
|
rs554183818
|
0.00002
|
NM_022437.3(ABCG8):c.1557C>T (p.Ala519=)
|
rs368114257
|
0.00002
|
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=)
|
rs374820261
|
0.00002
|
NM_022437.3(ABCG8):c.165+10C>T
|
rs574722652
|
0.00002
|
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)
|
rs548098742
|
0.00002
|
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=)
|
rs373862876
|
0.00002
|
NM_022437.3(ABCG8):c.695-7T>C
|
rs374648568
|
0.00002
|
NM_022445.4(TPK1):c.185+1G>A
|
rs747753388
|
0.00002
|
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp)
|
rs771467409
|
0.00002
|
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)
|
rs754309202
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=)
|
rs1390174762
|
0.00002
|
NM_024596.5(MCPH1):c.671-3C>T
|
rs374793979
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024757.5(EHMT1):c.183C>T (p.Ser61=)
|
rs774448433
|
0.00002
|
NM_024809.5(TCTN2):c.1506-2A>G
|
rs374349989
|
0.00002
|
NM_025193.4(HSD3B7):c.431+7_431+8insA
|
rs1343784849
|
0.00002
|
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)
|
rs772254851
|
0.00002
|
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile)
|
rs200871004
|
0.00002
|
NM_032119.4(ADGRV1):c.1189A>G (p.Ser397Gly)
|
rs377201437
|
0.00002
|
NM_032119.4(ADGRV1):c.1210G>A (p.Val404Ile)
|
rs780748586
|
0.00002
|
NM_032119.4(ADGRV1):c.14304G>A (p.Ser4768=)
|
rs373822878
|
0.00002
|
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=)
|
rs760841840
|
0.00002
|
NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His)
|
rs779671690
|
0.00002
|
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg)
|
rs756460900
|
0.00002
|
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=)
|
rs774124713
|
0.00002
|
NM_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile)
|
rs756555904
|
0.00002
|
NM_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys)
|
rs775893405
|
0.00002
|
NM_032119.4(ADGRV1):c.5835G>A (p.Lys1945=)
|
rs569899625
|
0.00002
|
NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala)
|
rs771811961
|
0.00002
|
NM_032119.4(ADGRV1):c.8004C>T (p.Asp2668=)
|
rs369591434
|
0.00002
|
NM_032409.3(PINK1):c.434C>T (p.Thr145Met)
|
rs45604240
|
0.00002
|
NM_032575.3(GLIS2):c.15C>T (p.Asp5=)
|
rs751898309
|
0.00002
|
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu)
|
rs543254581
|
0.00002
|
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=)
|
rs141247183
|
0.00002
|
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)
|
rs371265106
|
0.00002
|
NM_078470.6(COX15):c.933C>G (p.Ile311Met)
|
rs556026559
|
0.00002
|
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=)
|
rs373168555
|
0.00002
|
NM_080680.3(COL11A2):c.2637T>C (p.Pro879=)
|
rs199677738
|
0.00002
|
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)
|
rs752823488
|
0.00002
|
NM_080680.3(COL11A2):c.844G>A (p.Val282Met)
|
rs146432857
|
0.00002
|
NM_080916.3(DGUOK):c.256-6C>T
|
rs568816337
|
0.00002
|
NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu)
|
rs141810774
|
0.00002
|
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)
|
rs556002453
|
0.00002
|
NM_133433.4(NIPBL):c.126T>C (p.Phe42=)
|
rs727504046
|
0.00002
|
NM_133642.5(LARGE1):c.1132-8C>T
|
rs748964975
|
0.00002
|
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)
|
rs1303599332
|
0.00002
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
NM_138694.4(PKHD1):c.624T>C (p.His208=)
|
rs767511678
|
0.00002
|
NM_138694.4(PKHD1):c.668-3C>T
|
rs775002568
|
0.00002
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_138694.4(PKHD1):c.873C>T (p.Thr291=)
|
rs769773725
|
0.00002
|
NM_139058.3(ARX):c.1272G>A (p.Pro424=)
|
rs398124507
|
0.00002
|
NM_139058.3(ARX):c.300G>A (p.Ala100=)
|
rs797045294
|
0.00002
|
NM_139058.3(ARX):c.306G>T (p.Ala102=)
|
rs587783196
|
0.00002
|
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=)
|
rs141294063
|
0.00002
|
NM_145200.5(CABP4):c.531C>A (p.Ile177=)
|
rs754194692
|
0.00002
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)
|
rs759088490
|
0.00002
|
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=)
|
rs727504104
|
0.00002
|
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)
|
rs535110862
|
0.00002
|
NM_170707.4(LMNA):c.1047G>A (p.Arg349=)
|
rs147015659
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)
|
rs397517890
|
0.00002
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=)
|
rs552807375
|
0.00002
|
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile)
|
rs150912089
|
0.00002
|
NM_176787.5(PIGN):c.787C>A (p.His263Asn)
|
rs376934090
|
0.00002
|
NM_181332.3(NLGN4X):c.579C>T (p.Tyr193=)
|
rs398124366
|
0.00002
|
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=)
|
rs750318922
|
0.00002
|
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=)
|
rs773593843
|
0.00002
|
NM_182961.4(SYNE1):c.13299C>T (p.His4433=)
|
rs763090658
|
0.00002
|
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)
|
rs150604289
|
0.00002
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00002
|
NM_182961.4(SYNE1):c.3837+8T>C
|
rs377391406
|
0.00002
|
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)
|
rs368790049
|
0.00002
|
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp)
|
rs542488020
|
0.00002
|
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp)
|
rs782485083
|
0.00002
|
NM_201384.3(PLEC):c.825C>T (p.Asn275=)
|
rs113133985
|
0.00002
|
NM_206933.4(USH2A):c.11124C>G (p.Pro3708=)
|
rs773828586
|
0.00002
|
NM_206933.4(USH2A):c.15520-1G>A
|
rs767265734
|
0.00002
|
NM_206933.4(USH2A):c.4071G>A (p.Thr1357=)
|
rs745962568
|
0.00002
|
NM_206933.4(USH2A):c.792G>A (p.Glu264=)
|
rs886043440
|
0.00002
|
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter)
|
rs121434364
|
0.00002
|
NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter)
|
rs397509390
|
0.00002
|
NC_000002.12:g.178728782T>C
|
rs1025136671
|
0.00001
|
NC_000007.14:g.24744705G>A
|
rs754443945
|
0.00001
|
NC_000011.10:g.47335872C>T
|
rs398123280
|
0.00001
|
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)
|
rs398123075
|
0.00001
|
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)
|
rs533055438
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000020.3(ACVRL1):c.303G>A (p.Leu101=)
|
rs376417482
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)
|
rs565069721
|
0.00001
|
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=)
|
rs546735701
|
0.00001
|
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)
|
rs574635615
|
0.00001
|
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)
|
rs561367199
|
0.00001
|
NM_000051.4(ATM):c.2922-8T>A
|
rs545892367
|
0.00001
|
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)
|
rs886043423
|
0.00001
|
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)
|
rs375007352
|
0.00001
|
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=)
|
rs786201236
|
0.00001
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
NM_000059.4(BRCA2):c.6288T>G (p.Pro2096=)
|
rs372527810
|
0.00001
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)
|
rs774273767
|
0.00001
|
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)
|
rs988027905
|
0.00001
|
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)
|
rs139836397
|
0.00001
|
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)
|
rs777483913
|
0.00001
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)
|
rs766405190
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)
|
rs764459544
|
0.00001
|
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu)
|
rs760626912
|
0.00001
|
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)
|
rs779701414
|
0.00001
|
NM_000081.4(LYST):c.7780+2C>T
|
rs760108842
|
0.00001
|
NM_000082.4(ERCC8):c.-3G>A
|
rs199968351
|
0.00001
|
NM_000082.4(ERCC8):c.42C>T (p.Asp14=)
|
rs886043215
|
0.00001
|
NM_000082.4(ERCC8):c.637T>C (p.Leu213=)
|
rs752757232
|
0.00001
|
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)
|
rs779337831
|
0.00001
|
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=)
|
rs751239116
|
0.00001
|
NM_000089.4(COL1A2):c.2944-4A>T
|
rs143220941
|
0.00001
|
NM_000090.4(COL3A1):c.792A>G (p.Gly264=)
|
rs113304344
|
0.00001
|
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp)
|
rs1291948462
|
0.00001
|
NM_000092.5(COL4A4):c.264A>G (p.Ser88=)
|
rs746574978
|
0.00001
|
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=)
|
rs376865199
|
0.00001
|
NM_000093.5(COL5A1):c.2593-3C>T
|
rs199895142
|
0.00001
|
NM_000095.3(COMP):c.1110G>A (p.Ala370=)
|
rs780972997
|
0.00001
|
NM_000098.3(CPT2):c.461A>G (p.Asn154Ser)
|
rs772269793
|
0.00001
|
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer)
|
rs1207177925
|
0.00001
|
NM_000117.3(EMD):c.149C>A (p.Pro50His)
|
rs782021157
|
0.00001
|
NM_000117.3(EMD):c.385G>A (p.Ala129Thr)
|
rs782768362
|
0.00001
|
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=)
|
rs762734699
|
0.00001
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00001
|
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=)
|
rs747204355
|
0.00001
|
NM_000124.4(ERCC6):c.813C>T (p.Phe271=)
|
rs764319566
|
0.00001
|
NM_000132.4(F8):c.1660A>G (p.Ser554Gly)
|
rs137852419
|
0.00001
|
NM_000137.4(FAH):c.237G>A (p.Lys79=)
|
rs1490117712
|
0.00001
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
NM_000138.5(FBN1):c.75G>A (p.Ala25=)
|
rs543230518
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000142.5(FGFR3):c.1263A>G (p.Arg421=)
|
rs866774930
|
0.00001
|
NM_000142.5(FGFR3):c.150C>T (p.Val50=)
|
rs750641928
|
0.00001
|
NM_000142.5(FGFR3):c.666C>T (p.Asp222=)
|
rs201081464
|
0.00001
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)
|
rs398123164
|
0.00001
|
NM_000143.4(FH):c.208G>A (p.Ala70Thr)
|
rs587782207
|
0.00001
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
NM_000155.4(GALT):c.564+7G>A
|
rs760189807
|
0.00001
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)
|
rs398123532
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu)
|
rs758786811
|
0.00001
|
NM_000163.5(GHR):c.1686A>G (p.Gln562=)
|
rs145428904
|
0.00001
|
NM_000169.3(GLA):c.124A>C (p.Met42Leu)
|
rs797044613
|
0.00001
|
NM_000169.3(GLA):c.247G>A (p.Asp83Asn)
|
rs782722577
|
0.00001
|
NM_000169.3(GLA):c.870G>C (p.Met290Ile)
|
rs869312438
|
0.00001
|
NM_000179.3(MSH6):c.742C>G (p.Arg248Gly)
|
rs63749980
|
0.00001
|
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=)
|
rs754581545
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)
|
rs368454909
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000214.3(JAG1):c.1101C>T (p.Thr367=)
|
rs766771784
|
0.00001
|
NM_000214.3(JAG1):c.1308C>T (p.Cys436=)
|
rs764485729
|
0.00001
|
NM_000214.3(JAG1):c.1704C>T (p.Arg568=)
|
rs144985667
|
0.00001
|
NM_000214.3(JAG1):c.1866G>A (p.Thr622=)
|
rs140624746
|
0.00001
|
NM_000214.3(JAG1):c.1971C>T (p.Asp657=)
|
rs368661822
|
0.00001
|
NM_000214.3(JAG1):c.2148C>T (p.Asn716=)
|
rs550565756
|
0.00001
|
NM_000214.3(JAG1):c.2451C>T (p.Cys817=)
|
rs747532570
|
0.00001
|
NM_000214.3(JAG1):c.2559C>T (p.Ala853=)
|
rs201234393
|
0.00001
|
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=)
|
rs1388481192
|
0.00001
|
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=)
|
rs759853433
|
0.00001
|
NM_000214.3(JAG1):c.702C>T (p.Cys234=)
|
rs202109974
|
0.00001
|
NM_000214.3(JAG1):c.915G>A (p.Pro305=)
|
rs371165309
|
0.00001
|
NM_000218.3(KCNQ1):c.1685+9G>A
|
rs545535640
|
0.00001
|
NM_000231.3(SGCG):c.1-8C>T
|
rs745599370
|
0.00001
|
NM_000231.3(SGCG):c.267A>G (p.Pro89=)
|
rs149595403
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000235.4(LIPA):c.1056C>T (p.Asp352=)
|
rs1564748504
|
0.00001
|
NM_000235.4(LIPA):c.1128C>T (p.Asp376=)
|
rs200420117
|
0.00001
|
NM_000235.4(LIPA):c.279T>C (p.Ser93=)
|
rs1011619050
|
0.00001
|
NM_000235.4(LIPA):c.870G>A (p.Val290=)
|
rs756950169
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.222T>C (p.Asp74=)
|
rs755073786
|
0.00001
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)
|
rs368790885
|
0.00001
|
NM_000257.4(MYH7):c.2472C>T (p.Val824=)
|
rs397516150
|
0.00001
|
NM_000257.4(MYH7):c.4680G>A (p.Arg1560=)
|
rs771236158
|
0.00001
|
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=)
|
rs770477774
|
0.00001
|
NM_000260.4(MYO7A):c.1056G>A (p.Leu352=)
|
rs886044867
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=)
|
rs782163200
|
0.00001
|
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=)
|
rs797044658
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=)
|
rs886044828
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000271.5(NPC1):c.3478-7A>C
|
rs767148121
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)
|
rs375797728
|
0.00001
|
NM_000271.5(NPC1):c.57+7G>A
|
rs886042901
|
0.00001
|
NM_000275.3(OCA2):c.1045-9T>G
|
rs755604671
|
0.00001
|
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)
|
rs147816326
|
0.00001
|
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn)
|
rs1455447337
|
0.00001
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
NM_000277.3(PAH):c.169G>A (p.Glu57Lys)
|
rs140945592
|
0.00001
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
0.00001
|
NM_000285.4(PEPD):c.969T>C (p.Gly323=)
|
rs1568445341
|
0.00001
|
NM_000287.4(PEX6):c.1231A>G (p.Met411Val)
|
rs752177240
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
0.00001
|
NM_000287.4(PEX6):c.348C>T (p.Leu116=)
|
rs746578841
|
0.00001
|
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr)
|
rs1802959
|
0.00001
|
NM_000295.5(SERPINA1):c.1065+10C>T
|
rs56388024
|
0.00001
|
NM_000295.5(SERPINA1):c.646+1G>T
|
rs751235320
|
0.00001
|
NM_000295.5(SERPINA1):c.646+5_646+6del
|
rs779432340
|
0.00001
|
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)
|
rs200503569
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg)
|
rs369186379
|
0.00001
|
NM_000318.3(PEX2):c.624dup (p.Pro209fs)
|
rs1438831421
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)
|
rs80338792
|
0.00001
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00001
|
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)
|
rs780761880
|
0.00001
|
NM_000337.6(SGCD):c.270C>T (p.Tyr90=)
|
rs749273088
|
0.00001
|
NM_000337.6(SGCD):c.45T>A (p.Pro15=)
|
rs727505092
|
0.00001
|
NM_000337.6(SGCD):c.768G>A (p.Thr256=)
|
rs376141942
|
0.00001
|
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly)
|
rs61751420
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)
|
rs61749437
|
0.00001
|
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=)
|
rs187965758
|
0.00001
|
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)
|
rs61750135
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)
|
rs758835368
|
0.00001
|
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=)
|
rs750526487
|
0.00001
|
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)
|
rs377311148
|
0.00001
|
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)
|
rs61750646
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.769-3C>T
|
rs368010652
|
0.00001
|
NM_000352.6(ABCC8):c.279C>A (p.Ile93=)
|
rs550990673
|
0.00001
|
NM_000362.5(TIMP3):c.255A>G (p.Glu85=)
|
rs373801773
|
0.00001
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met)
|
rs775869914
|
0.00001
|
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)
|
rs397514859
|
0.00001
|
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)
|
rs797046083
|
0.00001
|
NM_000388.4(CASR):c.3132G>A (p.Val1044=)
|
rs755277801
|
0.00001
|
NM_000388.4(CASR):c.537A>G (p.Gln179=)
|
rs200129212
|
0.00001
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000391.4(TPP1):c.887-10A>G
|
rs755445790
|
0.00001
|
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg)
|
rs765570396
|
0.00001
|
NM_000392.5(ABCC2):c.2095-7C>T
|
rs774902843
|
0.00001
|
NM_000392.5(ABCC2):c.2260del (p.Ile754fs)
|
rs1564687941
|
0.00001
|
NM_000392.5(ABCC2):c.330A>G (p.Thr110=)
|
rs750755532
|
0.00001
|
NM_000392.5(ABCC2):c.3873G>A (p.Pro1291=)
|
rs765304225
|
0.00001
|
NM_000392.5(ABCC2):c.4398G>A (p.Ala1466=)
|
rs780515921
|
0.00001
|
NM_000392.5(ABCC2):c.855T>C (p.Asp285=)
|
rs769700101
|
0.00001
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)
|
rs546653967
|
0.00001
|
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=)
|
rs776640310
|
0.00001
|
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr)
|
rs121913574
|
0.00001
|
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)
|
rs121913573
|
0.00001
|
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=)
|
rs758682063
|
0.00001
|
NM_000434.4(NEU1):c.615G>A (p.Gln205=)
|
rs781137251
|
0.00001
|
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg)
|
rs104893983
|
0.00001
|
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=)
|
rs727504072
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
NM_000443.4(ABCB4):c.1006-1G>T
|
rs772823352
|
0.00001
|
NM_000443.4(ABCB4):c.1119+8A>C
|
rs1471180323
|
0.00001
|
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=)
|
rs916276498
|
0.00001
|
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=)
|
rs748044865
|
0.00001
|
NM_000443.4(ABCB4):c.174G>A (p.Ser58=)
|
rs772771936
|
0.00001
|
NM_000443.4(ABCB4):c.1821A>C (p.Val607=)
|
rs546820262
|
0.00001
|
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala)
|
rs779885518
|
0.00001
|
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)
|
rs141677867
|
0.00001
|
NM_000443.4(ABCB4):c.240G>A (p.Glu80=)
|
rs8187787
|
0.00001
|
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=)
|
rs978222245
|
0.00001
|
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=)
|
rs1297237099
|
0.00001
|
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=)
|
rs1435564748
|
0.00001
|
NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys)
|
rs757931203
|
0.00001
|
NM_000443.4(ABCB4):c.3486+1G>A
|
rs764513998
|
0.00001
|
NM_000443.4(ABCB4):c.3633+9G>A
|
rs1554396917
|
0.00001
|
NM_000444.6(PHEX):c.*231A>G
|
rs946863800
|
0.00001
|
NM_000451.4(SHOX):c.440G>A (p.Arg147His)
|
rs886043634
|
0.00001
|
NM_000451.4(SHOX):c.702G>A (p.Ala234=)
|
rs576542942
|
0.00001
|
NM_000451.4(SHOX):c.723C>T (p.Phe241=)
|
rs886042718
|
0.00001
|
NM_000452.3(SLC10A2):c.45T>C (p.Ser15=)
|
rs374581163
|
0.00001
|
NM_000452.3(SLC10A2):c.753C>G (p.Pro251=)
|
rs1172213655
|
0.00001
|
NM_000455.5(STK11):c.579C>T (p.Ser193=)
|
rs730881961
|
0.00001
|
NM_000458.4(HNF1B):c.96G>A (p.Glu32=)
|
rs778229703
|
0.00001
|
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=)
|
rs763217521
|
0.00001
|
NM_000466.3(PEX1):c.3208-1G>A
|
rs1057517518
|
0.00001
|
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)
|
rs753334806
|
0.00001
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)
|
rs768555495
|
0.00001
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)
|
rs74315480
|
0.00001
|
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)
|
rs74315461
|
0.00001
|
NM_000492.4(CFTR):c.1047G>A (p.Ala349=)
|
rs200520623
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.2055A>G (p.Gln685=)
|
rs1457520634
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)
|
rs759202870
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000493.4(COL10A1):c.1392G>A (p.Gly464=)
|
rs886042553
|
0.00001
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
NM_000520.6(HEXA):c.536A>G (p.His179Arg)
|
rs747372270
|
0.00001
|
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)
|
rs200750564
|
0.00001
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)
|
rs794727946
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)
|
rs398123471
|
0.00001
|
NM_000540.3(RYR1):c.2037C>A (p.Thr679=)
|
rs571569206
|
0.00001
|
NM_000540.3(RYR1):c.4230C>T (p.Leu1410=)
|
rs750872878
|
0.00001
|
NM_000540.3(RYR1):c.624C>T (p.Cys208=)
|
rs746914281
|
0.00001
|
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
|
rs193922816
|
0.00001
|
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)
|
rs121918594
|
0.00001
|
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=)
|
rs201686887
|
0.00001
|
NM_000543.5(SMPD1):c.1341-9T>C
|
rs528939343
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)
|
rs369787650
|
0.00001
|
NM_000543.5(SMPD1):c.319-5T>C
|
rs958654789
|
0.00001
|
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)
|
rs200763423
|
0.00001
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000548.5(TSC2):c.2823C>T (p.Asn941=)
|
rs750806272
|
0.00001
|
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)
|
rs778352969
|
0.00001
|
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=)
|
rs368712041
|
0.00001
|
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=)
|
rs751305758
|
0.00001
|
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr)
|
rs1245934608
|
0.00001
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
NM_000702.4(ATP1A2):c.3034+6C>A
|
rs574788908
|
0.00001
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)
|
rs137852873
|
0.00001
|
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)
|
rs137852875
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=)
|
rs398123521
|
0.00001
|
NM_000719.7(CACNA1C):c.363C>T (p.Val121=)
|
rs886042281
|
0.00001
|
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=)
|
rs769124319
|
0.00001
|
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=)
|
rs757373786
|
0.00001
|
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=)
|
rs750835120
|
0.00001
|
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala)
|
rs972053240
|
0.00001
|
NM_000726.5(CACNB4):c.288C>T (p.Ala96=)
|
rs558998873
|
0.00001
|
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=)
|
rs76140563
|
0.00001
|
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)
|
rs121912282
|
0.00001
|
NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp)
|
rs56337013
|
0.00001
|
NM_000780.4(CYP7A1):c.157C>T (p.Leu53Phe)
|
rs189424028
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=)
|
rs1238340088
|
0.00001
|
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=)
|
rs1336081746
|
0.00001
|
NM_000784.4(CYP27A1):c.256-3C>T
|
rs1559391389
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000843.4(GRM6):c.1695G>A (p.Thr565=)
|
rs794727907
|
0.00001
|
NM_000875.5(IGF1R):c.318C>T (p.Ile106=)
|
rs1267154320
|
0.00001
|
NM_000883.4(IMPDH1):c.159C>T (p.Asp53=)
|
rs768265149
|
0.00001
|
NM_001002755.4(NFU1):c.103C>T (p.Gln35Ter)
|
rs1339043479
|
0.00001
|
NM_001005242.3(PKP2):c.1379-1998C>T
|
rs151212477
|
0.00001
|
NM_001005361.3(DNM2):c.216G>A (p.Gln72=)
|
rs368075301
|
0.00001
|
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)
|
rs121908046
|
0.00001
|
NM_001017420.3(ESCO2):c.738A>G (p.Val246=)
|
rs886044291
|
0.00001
|
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=)
|
rs543120030
|
0.00001
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
NM_001035.3(RYR2):c.1527C>T (p.Ser509=)
|
rs886042568
|
0.00001
|
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)
|
rs397516526
|
0.00001
|
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)
|
rs780111656
|
0.00001
|
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)
|
rs377763336
|
0.00001
|
NM_001037.5(SCN1B):c.273G>A (p.Val91=)
|
rs16969926
|
0.00001
|
NM_001040142.2(SCN2A):c.2016+10A>G
|
rs886042771
|
0.00001
|
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=)
|
rs187731029
|
0.00001
|
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=)
|
rs1177406324
|
0.00001
|
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
|
rs762813092
|
0.00001
|
NM_001042472.3(ABHD12):c.66C>T (p.Ser22=)
|
rs1261172926
|
0.00001
|
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)
|
rs199634446
|
0.00001
|
NM_001048174.2(MUTYH):c.493-5A>G
|
rs758377868
|
0.00001
|
NM_001077365.2(POMT1):c.1443C>T (p.His481=)
|
rs139415150
|
0.00001
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
NM_001077365.2(POMT1):c.345G>A (p.Ser115=)
|
rs147212285
|
0.00001
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
NM_001077365.2(POMT1):c.699+67G>A
|
rs776061161
|
0.00001
|
NM_001079802.2(FKTN):c.180A>G (p.Lys60=)
|
rs886042513
|
0.00001
|
NM_001079802.2(FKTN):c.198C>G (p.Ser66=)
|
rs367868644
|
0.00001
|
NM_001079802.2(FKTN):c.21C>T (p.Asn7=)
|
rs564632018
|
0.00001
|
NM_001079802.2(FKTN):c.357A>G (p.Leu119=)
|
rs760933616
|
0.00001
|
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)
|
rs558187116
|
0.00001
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
NM_001083961.2(WDR62):c.2040T>C (p.His680=)
|
rs765451882
|
0.00001
|
NM_001083961.2(WDR62):c.525C>T (p.Tyr175=)
|
rs779093591
|
0.00001
|
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=)
|
rs746842727
|
0.00001
|
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=)
|
rs532057629
|
0.00001
|
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=)
|
rs148054819
|
0.00001
|
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=)
|
rs782669943
|
0.00001
|
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=)
|
rs398123615
|
0.00001
|
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys)
|
rs781878646
|
0.00001
|
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)
|
rs267608633
|
0.00001
|
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)
|
rs769399113
|
0.00001
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)
|
rs760682283
|
0.00001
|
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)
|
rs760994682
|
0.00001
|
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)
|
rs763004817
|
0.00001
|
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=)
|
rs530361602
|
0.00001
|
NM_001130438.3(SPTAN1):c.3720-7C>T
|
rs773023641
|
0.00001
|
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg)
|
rs771886198
|
0.00001
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.1577-10T>C
|
rs371967475
|
0.00001
|
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)
|
rs121908962
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.2217-2A>G
|
rs747289205
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)
|
rs566381009
|
0.00001
|
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=)
|
rs774464702
|
0.00001
|
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile)
|
rs767049254
|
0.00001
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=)
|
rs763198861
|
0.00001
|
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)
|
rs577921112
|
0.00001
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
NM_001130987.2(DYSF):c.606G>A (p.Ala202=)
|
rs398123791
|
0.00001
|
NM_001130987.2(DYSF):c.6174-8G>A
|
rs777167646
|
0.00001
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
NM_001134363.3(RBM20):c.2514T>C (p.Ala838=)
|
rs794727966
|
0.00001
|
NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met)
|
rs78929970
|
0.00001
|
NM_001134407.3(GRIN2A):c.678C>T (p.Val226=)
|
rs1567187672
|
0.00001
|
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=)
|
rs373872866
|
0.00001
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
0.00001
|
NM_001159699.2(FHL1):c.88T>C (p.Leu30=)
|
rs1313810606
|
0.00001
|
NM_001159773.2(CANT1):c.836-9G>A
|
rs538543007
|
0.00001
|
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=)
|
rs201999021
|
0.00001
|
NM_001164277.2(SLC37A4):c.786-7A>G
|
rs781887799
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)
|
rs1472403020
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)
|
rs398123588
|
0.00001
|
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser)
|
rs1373733895
|
0.00001
|
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val)
|
rs779306054
|
0.00001
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=)
|
rs886043063
|
0.00001
|
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=)
|
rs750748658
|
0.00001
|
NM_001170629.2(CHD8):c.5141T>C (p.Met1714Thr)
|
rs369748510
|
0.00001
|
NM_001173467.3(SP7):c.63G>A (p.Thr21=)
|
rs542641721
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001177316.2(SLC34A3):c.945C>T (p.Gly315=)
|
rs915920618
|
0.00001
|
NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=)
|
rs935431600
|
0.00001
|
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=)
|
rs137962077
|
0.00001
|
NM_001184880.2(PCDH19):c.228C>T (p.Pro76=)
|
rs794726898
|
0.00001
|
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=)
|
rs774555485
|
0.00001
|
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=)
|
rs886043091
|
0.00001
|
NM_001189.4(NKX3-2):c.873A>G (p.Arg291=)
|
rs921673580
|
0.00001
|
NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=)
|
rs746201051
|
0.00001
|
NM_001193315.2(VIPAS39):c.1221C>T (p.Phe407=)
|
rs886044709
|
0.00001
|
NM_001193315.2(VIPAS39):c.1266+5T>C
|
rs762123926
|
0.00001
|
NM_001193315.2(VIPAS39):c.1356+8C>T
|
rs988006454
|
0.00001
|
NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter)
|
rs747749610
|
0.00001
|
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=)
|
rs886043654
|
0.00001
|
NM_001206979.2(NR1H4):c.1353C>T (p.His451=)
|
rs574925287
|
0.00001
|
NM_001252024.2(TRPM1):c.435C>A (p.Gly145=)
|
rs774819442
|
0.00001
|
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=)
|
rs778478048
|
0.00001
|
NM_001267550.2(TTN):c.100629T>C (p.Tyr33543=)
|
rs772935423
|
0.00001
|
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=)
|
rs794727543
|
0.00001
|
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys)
|
rs577667352
|
0.00001
|
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)
|
rs528502993
|
0.00001
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=)
|
rs773892755
|
0.00001
|
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)
|
rs762235688
|
0.00001
|
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)
|
rs539735520
|
0.00001
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)
|
rs750519430
|
0.00001
|
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)
|
rs548677252
|
0.00001
|
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)
|
rs886043924
|
0.00001
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
NM_001267550.2(TTN):c.105852C>G (p.Ala35284=)
|
rs776786546
|
0.00001
|
NM_001267550.2(TTN):c.105999G>A (p.Gln35333=)
|
rs764231632
|
0.00001
|
NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys)
|
rs374992991
|
0.00001
|
NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys)
|
rs528535076
|
0.00001
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
NM_001267550.2(TTN):c.107832G>A (p.Arg35944=)
|
rs759154562
|
0.00001
|
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)
|
rs397517825
|
0.00001
|
NM_001267550.2(TTN):c.12387G>A (p.Arg4129=)
|
rs199546417
|
0.00001
|
NM_001267550.2(TTN):c.13365A>G (p.Val4455=)
|
rs956041710
|
0.00001
|
NM_001267550.2(TTN):c.13872C>T (p.His4624=)
|
rs765700138
|
0.00001
|
NM_001267550.2(TTN):c.14093-1G>A
|
rs869312099
|
0.00001
|
NM_001267550.2(TTN):c.1452T>C (p.Asp484=)
|
rs746610206
|
0.00001
|
NM_001267550.2(TTN):c.16078A>G (p.Thr5360Ala)
|
rs749081117
|
0.00001
|
NM_001267550.2(TTN):c.16159A>C (p.Arg5387=)
|
rs371501460
|
0.00001
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
NM_001267550.2(TTN):c.17082G>T (p.Leu5694=)
|
rs750996600
|
0.00001
|
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)
|
rs377193479
|
0.00001
|
NM_001267550.2(TTN):c.17280G>A (p.Thr5760=)
|
rs748617936
|
0.00001
|
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)
|
rs373963067
|
0.00001
|
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)
|
rs772600691
|
0.00001
|
NM_001267550.2(TTN):c.210G>T (p.Val70=)
|
rs746033038
|
0.00001
|
NM_001267550.2(TTN):c.23091A>G (p.Thr7697=)
|
rs1198504900
|
0.00001
|
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=)
|
rs753546095
|
0.00001
|
NM_001267550.2(TTN):c.23352G>A (p.Thr7784=)
|
rs745476881
|
0.00001
|
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp)
|
rs768608500
|
0.00001
|
NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr)
|
rs751640052
|
0.00001
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00001
|
NM_001267550.2(TTN):c.267G>A (p.Ala89=)
|
rs577716745
|
0.00001
|
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys)
|
rs369529493
|
0.00001
|
NM_001267550.2(TTN):c.27328+5G>A
|
rs397517521
|
0.00001
|
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr)
|
rs369108107
|
0.00001
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
NM_001267550.2(TTN):c.2916G>A (p.Pro972=)
|
rs757569345
|
0.00001
|
NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala)
|
rs1413214135
|
0.00001
|
NM_001267550.2(TTN):c.30224-7T>G
|
rs778458915
|
0.00001
|
NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys)
|
rs901197333
|
0.00001
|
NM_001267550.2(TTN):c.31846+5A>G
|
rs760788961
|
0.00001
|
NM_001267550.2(TTN):c.32470+4T>C
|
rs1390842582
|
0.00001
|
NM_001267550.2(TTN):c.33248-8C>G
|
rs766957102
|
0.00001
|
NM_001267550.2(TTN):c.34734A>G (p.Val11578=)
|
rs866407525
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001267550.2(TTN):c.39473T>C (p.Val13158Ala)
|
rs1553769611
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile)
|
rs587780488
|
0.00001
|
NM_001267550.2(TTN):c.40800C>A (p.Ile13600=)
|
rs879111430
|
0.00001
|
NM_001267550.2(TTN):c.41778T>C (p.Asp13926=)
|
rs766397292
|
0.00001
|
NM_001267550.2(TTN):c.42613T>C (p.Leu14205=)
|
rs747480084
|
0.00001
|
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)
|
rs374085402
|
0.00001
|
NM_001267550.2(TTN):c.43623G>A (p.Ser14541=)
|
rs369434563
|
0.00001
|
NM_001267550.2(TTN):c.43716G>T (p.Gly14572=)
|
rs200065187
|
0.00001
|
NM_001267550.2(TTN):c.43748-7C>T
|
rs771927358
|
0.00001
|
NM_001267550.2(TTN):c.43836A>G (p.Ala14612=)
|
rs755492644
|
0.00001
|
NM_001267550.2(TTN):c.44112C>T (p.His14704=)
|
rs754693395
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)
|
rs144848584
|
0.00001
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
|
rs727505350
|
0.00001
|
NM_001267550.2(TTN):c.4641G>T (p.Val1547=)
|
rs1012929202
|
0.00001
|
NM_001267550.2(TTN):c.46899G>A (p.Gly15633=)
|
rs727504195
|
0.00001
|
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys)
|
rs577133803
|
0.00001
|
NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)
|
rs1057523898
|
0.00001
|
NM_001267550.2(TTN):c.5022C>G (p.Ala1674=)
|
rs753444772
|
0.00001
|
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
|
rs397517599
|
0.00001
|
NM_001267550.2(TTN):c.50835T>C (p.Asn16945=)
|
rs750172128
|
0.00001
|
NM_001267550.2(TTN):c.51099C>T (p.Leu17033=)
|
rs755994820
|
0.00001
|
NM_001267550.2(TTN):c.51231C>A (p.Thr17077=)
|
rs779518431
|
0.00001
|
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys)
|
rs752764827
|
0.00001
|
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)
|
rs397517607
|
0.00001
|
NM_001267550.2(TTN):c.52323C>T (p.Tyr17441=)
|
rs749855424
|
0.00001
|
NM_001267550.2(TTN):c.52374T>C (p.Val17458=)
|
rs752571545
|
0.00001
|
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His)
|
rs559590585
|
0.00001
|
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=)
|
rs1553687219
|
0.00001
|
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
|
rs397517612
|
0.00001
|
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=)
|
rs373277508
|
0.00001
|
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=)
|
rs777904054
|
0.00001
|
NM_001267550.2(TTN):c.55503G>A (p.Lys18501=)
|
rs879239475
|
0.00001
|
NM_001267550.2(TTN):c.55986C>T (p.Val18662=)
|
rs747136342
|
0.00001
|
NM_001267550.2(TTN):c.56256G>A (p.Pro18752=)
|
rs111262307
|
0.00001
|
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)
|
rs1185555417
|
0.00001
|
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=)
|
rs587780489
|
0.00001
|
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)
|
rs370091658
|
0.00001
|
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)
|
rs727504980
|
0.00001
|
NM_001267550.2(TTN):c.59502T>C (p.Asp19834=)
|
rs972823319
|
0.00001
|
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)
|
rs529529087
|
0.00001
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
NM_001267550.2(TTN):c.61224G>A (p.Val20408=)
|
rs566188777
|
0.00001
|
NM_001267550.2(TTN):c.61962C>T (p.Ile20654=)
|
rs369710636
|
0.00001
|
NM_001267550.2(TTN):c.6243C>T (p.Phe2081=)
|
rs770052197
|
0.00001
|
NM_001267550.2(TTN):c.6406T>C (p.Leu2136=)
|
rs765377738
|
0.00001
|
NM_001267550.2(TTN):c.6423G>A (p.Val2141=)
|
rs768989325
|
0.00001
|
NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=)
|
rs751009684
|
0.00001
|
NM_001267550.2(TTN):c.65514C>T (p.Thr21838=)
|
rs372543748
|
0.00001
|
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser)
|
rs72646866
|
0.00001
|
NM_001267550.2(TTN):c.66160+2T>C
|
rs753146898
|
0.00001
|
NM_001267550.2(TTN):c.66423C>T (p.Pro22141=)
|
rs1322620894
|
0.00001
|
NM_001267550.2(TTN):c.6690C>T (p.Phe2230=)
|
rs755122338
|
0.00001
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
NM_001267550.2(TTN):c.68824+5G>C
|
rs749639627
|
0.00001
|
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)
|
rs757603460
|
0.00001
|
NM_001267550.2(TTN):c.68997C>A (p.Thr22999=)
|
rs369068922
|
0.00001
|
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=)
|
rs1487392148
|
0.00001
|
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met)
|
rs540840413
|
0.00001
|
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr)
|
rs786205539
|
0.00001
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)
|
rs397517690
|
0.00001
|
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)
|
rs397517691
|
0.00001
|
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)
|
rs398124455
|
0.00001
|
NM_001267550.2(TTN):c.72630A>G (p.Glu24210=)
|
rs1384344292
|
0.00001
|
NM_001267550.2(TTN):c.73224G>A (p.Gly24408=)
|
rs371034493
|
0.00001
|
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu)
|
rs55713856
|
0.00001
|
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)
|
rs368530092
|
0.00001
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=)
|
rs371563258
|
0.00001
|
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)
|
rs374494927
|
0.00001
|
NM_001267550.2(TTN):c.77037T>C (p.Asn25679=)
|
rs372800320
|
0.00001
|
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=)
|
rs757252494
|
0.00001
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.78372T>C (p.Ile26124=)
|
rs886044461
|
0.00001
|
NM_001267550.2(TTN):c.7902C>T (p.Ser2634=)
|
rs1553997365
|
0.00001
|
NM_001267550.2(TTN):c.795C>T (p.Ser265=)
|
rs780802517
|
0.00001
|
NM_001267550.2(TTN):c.8013C>A (p.Gly2671=)
|
rs369439944
|
0.00001
|
NM_001267550.2(TTN):c.80841T>C (p.Phe26947=)
|
rs1015506783
|
0.00001
|
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=)
|
rs775673876
|
0.00001
|
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu)
|
rs368850871
|
0.00001
|
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr)
|
rs769343491
|
0.00001
|
NM_001267550.2(TTN):c.84157C>T (p.Leu28053Phe)
|
rs1194981313
|
0.00001
|
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)
|
rs397517730
|
0.00001
|
NM_001267550.2(TTN):c.85746A>C (p.Ile28582=)
|
rs771116739
|
0.00001
|
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)
|
rs546573613
|
0.00001
|
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)
|
rs773001228
|
0.00001
|
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)
|
rs532818379
|
0.00001
|
NM_001267550.2(TTN):c.87081A>G (p.Arg29027=)
|
rs886042694
|
0.00001
|
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)
|
rs369444690
|
0.00001
|
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)
|
rs371678936
|
0.00001
|
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)
|
rs369855092
|
0.00001
|
NM_001267550.2(TTN):c.9108T>C (p.Ala3036=)
|
rs886044544
|
0.00001
|
NM_001267550.2(TTN):c.91224C>T (p.Ser30408=)
|
rs1057522835
|
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.918C>T (p.Ser306=)
|
rs773898647
|
0.00001
|
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)
|
rs545632095
|
0.00001
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
NM_001267550.2(TTN):c.92951A>G (p.Glu30984Gly)
|
rs770525487
|
0.00001
|
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)
|
rs727504528
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_001267550.2(TTN):c.94590A>G (p.Pro31530=)
|
rs558347312
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001267550.2(TTN):c.95232C>T (p.Ile31744=)
|
rs267599026
|
0.00001
|
NM_001267550.2(TTN):c.95686G>A (p.Glu31896Lys)
|
rs745365163
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001267550.2(TTN):c.97294C>T (p.Leu32432=)
|
rs72648267
|
0.00001
|
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)
|
rs397517770
|
0.00001
|
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln)
|
rs369237346
|
0.00001
|
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)
|
rs397517771
|
0.00001
|
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn)
|
rs773776767
|
0.00001
|
NM_001267550.2(TTN):c.98151G>A (p.Arg32717=)
|
rs757402291
|
0.00001
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=)
|
rs750855113
|
0.00001
|
NM_001267550.2(TTN):c.99990A>G (p.Lys33330=)
|
rs749702063
|
0.00001
|
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met)
|
rs398123360
|
0.00001
|
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=)
|
rs375862497
|
0.00001
|
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His)
|
rs200402620
|
0.00001
|
NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=)
|
rs540768941
|
0.00001
|
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=)
|
rs751346951
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln)
|
rs370765411
|
0.00001
|
NM_001292063.2(OTOG):c.7268-7T>A
|
rs911853347
|
0.00001
|
NM_001297.5(CNGB1):c.705C>T (p.Pro235=)
|
rs748140894
|
0.00001
|
NM_001298.3(CNGA3):c.1831C>T (p.Leu611=)
|
rs747855074
|
0.00001
|
NM_001305581.2(LRMDA):c.602-8A>T
|
rs565236615
|
0.00001
|
NM_001323289.2(CDKL5):c.2152+10C>G
|
rs763466606
|
0.00001
|
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=)
|
rs727503847
|
0.00001
|
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=)
|
rs201485014
|
0.00001
|
NM_001330078.2(NRXN1):c.3042C>T (p.Thr1014=)
|
rs75137449
|
0.00001
|
NM_001330078.2(NRXN1):c.3071-10C>T
|
rs398123573
|
0.00001
|
NM_001330078.2(NRXN1):c.3245-4G>T
|
rs1057520338
|
0.00001
|
NM_001330078.2(NRXN1):c.3364+3A>G
|
rs762891600
|
0.00001
|
NM_001330260.2(SCN8A):c.270G>T (p.Thr90=)
|
rs371712630
|
0.00001
|
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=)
|
rs763201344
|
0.00001
|
NM_001330260.2(SCN8A):c.929-4C>G
|
rs771227940
|
0.00001
|
NM_001349338.3(FOXP1):c.1328A>G (p.Tyr443Cys)
|
rs727503936
|
0.00001
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)
|
rs753960624
|
0.00001
|
NM_001360.3(DHCR7):c.831+7G>A
|
rs1318919210
|
0.00001
|
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
|
rs78365220
|
0.00001
|
NM_001367624.2(ZNF469):c.2017G>A (p.Ala673Thr)
|
rs770623245
|
0.00001
|
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala)
|
rs886042221
|
0.00001
|
NM_001367721.1(CASK):c.1503+3A>G
|
rs1468715588
|
0.00001
|
NM_001367721.1(CASK):c.159G>T (p.Gly53=)
|
rs761946846
|
0.00001
|
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr)
|
rs398123811
|
0.00001
|
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter)
|
rs773948197
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=)
|
rs762559863
|
0.00001
|
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=)
|
rs372206751
|
0.00001
|
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser)
|
rs572826436
|
0.00001
|
NM_001374353.1(GLI2):c.765G>A (p.Ser255=)
|
rs200901345
|
0.00001
|
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)
|
rs1202682161
|
0.00001
|
NM_001374385.1(ATP8B1):c.1812T>C (p.Ser604=)
|
rs754573787
|
0.00001
|
NM_001374385.1(ATP8B1):c.2097+2T>C
|
rs387906381
|
0.00001
|
NM_001374385.1(ATP8B1):c.2209+9T>C
|
rs377124910
|
0.00001
|
NM_001374385.1(ATP8B1):c.2932-9C>T
|
rs776616431
|
0.00001
|
NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=)
|
rs201160977
|
0.00001
|
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=)
|
rs777735514
|
0.00001
|
NM_001378414.1(HDAC4):c.339+10G>A
|
rs199918439
|
0.00001
|
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)
|
rs200979896
|
0.00001
|
NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=)
|
rs763567590
|
0.00001
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
NM_001379110.1(SLC9A6):c.1380C>T (p.Ser460=)
|
rs782177396
|
0.00001
|
NM_001379270.1(CNGA1):c.1560C>T (p.Leu520=)
|
rs775781523
|
0.00001
|
NM_001379270.1(CNGA1):c.438-6C>T
|
rs794727950
|
0.00001
|
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter)
|
rs1223508098
|
0.00001
|
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=)
|
rs886042223
|
0.00001
|
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)
|
rs772407988
|
0.00001
|
NM_001457.4(FLNB):c.3144C>T (p.Pro1048=)
|
rs376519914
|
0.00001
|
NM_001457.4(FLNB):c.5043G>A (p.Pro1681=)
|
rs886042162
|
0.00001
|
NM_001458.5(FLNC):c.3054C>T (p.Gly1018=)
|
rs769624093
|
0.00001
|
NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg)
|
rs530742766
|
0.00001
|
NM_001458.5(FLNC):c.6441C>T (p.Ile2147=)
|
rs762017885
|
0.00001
|
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg)
|
rs104894208
|
0.00001
|
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)
|
rs794727533
|
0.00001
|
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)
|
rs371835359
|
0.00001
|
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=)
|
rs566132150
|
0.00001
|
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=)
|
rs201223454
|
0.00001
|
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)
|
rs745847824
|
0.00001
|
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=)
|
rs372725624
|
0.00001
|
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=)
|
rs527265374
|
0.00001
|
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)
|
rs727503883
|
0.00001
|
NM_001849.4(COL6A2):c.1396-1G>A
|
rs1331260332
|
0.00001
|
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser)
|
rs778364096
|
0.00001
|
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)
|
rs759646708
|
0.00001
|
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=)
|
rs398123649
|
0.00001
|
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=)
|
rs754203636
|
0.00001
|
NM_001849.4(COL6A2):c.459C>T (p.Thr153=)
|
rs764014106
|
0.00001
|
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter)
|
rs745532481
|
0.00001
|
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)
|
rs1135057
|
0.00001
|
NM_001851.6(COL9A1):c.88+7G>C
|
rs755501266
|
0.00001
|
NM_001852.4(COL9A2):c.846+10C>T
|
rs1045951380
|
0.00001
|
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=)
|
rs776017580
|
0.00001
|
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=)
|
rs372602506
|
0.00001
|
NM_001853.4(COL9A3):c.72G>A (p.Gly24=)
|
rs777240987
|
0.00001
|
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile)
|
rs755173952
|
0.00001
|
NM_001854.4(COL11A1):c.1414-9T>A
|
rs794727062
|
0.00001
|
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)
|
rs56230601
|
0.00001
|
NM_001854.4(COL11A1):c.2610+9T>C
|
rs754222130
|
0.00001
|
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn)
|
rs779028602
|
0.00001
|
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu)
|
rs753649097
|
0.00001
|
NM_001854.4(COL11A1):c.4859-3T>C
|
rs774985706
|
0.00001
|
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met)
|
rs398123652
|
0.00001
|
NM_001909.5(CTSD):c.972+10G>A
|
rs531682785
|
0.00001
|
NM_001927.4(DES):c.-7C>G
|
rs764966574
|
0.00001
|
NM_001927.4(DES):c.1180G>A (p.Val394Met)
|
rs776786349
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
0.00001
|
NM_001927.4(DES):c.822C>T (p.Leu274=)
|
rs763599850
|
0.00001
|
NM_001931.5(DLAT):c.423G>A (p.Glu141=)
|
rs781936816
|
0.00001
|
NM_001966.4(EHHADH):c.1693C>T (p.Leu565Phe)
|
rs771154497
|
0.00001
|
NM_001966.4(EHHADH):c.2078A>G (p.Glu693Gly)
|
rs747498106
|
0.00001
|
NM_001999.4(FBN2):c.2013G>A (p.Gly671=)
|
rs778762668
|
0.00001
|
NM_002024.6(FMR1):c.1654+10T>A
|
rs782472011
|
0.00001
|
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg)
|
rs398123680
|
0.00001
|
NM_002335.4(LRP5):c.2463C>T (p.Thr821=)
|
rs778180589
|
0.00001
|
NM_002335.4(LRP5):c.4359C>T (p.Cys1453=)
|
rs755205426
|
0.00001
|
NM_002335.4(LRP5):c.480C>T (p.Pro160=)
|
rs377114189
|
0.00001
|
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)
|
rs398123686
|
0.00001
|
NM_002427.4(MMP13):c.1251G>A (p.Pro417=)
|
rs150203792
|
0.00001
|
NM_002437.5(MPV17):c.409-1G>C
|
rs886044280
|
0.00001
|
NM_002437.5(MPV17):c.70+8T>G
|
rs755647054
|
0.00001
|
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=)
|
rs529107714
|
0.00001
|
NM_002473.6(MYH9):c.5151-5C>T
|
rs762613036
|
0.00001
|
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=)
|
rs748176965
|
0.00001
|
NM_002615.7(SERPINF1):c.510G>A (p.Thr170=)
|
rs765928741
|
0.00001
|
NM_002617.4(PEX10):c.194-5C>T
|
rs375032738
|
0.00001
|
NM_002617.4(PEX10):c.913-3C>T
|
rs777570617
|
0.00001
|
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp)
|
rs748019294
|
0.00001
|
NM_002693.3(POLG):c.114G>T (p.Gly38=)
|
rs794727268
|
0.00001
|
NM_002693.3(POLG):c.116A>G (p.Gln39Arg)
|
rs749750052
|
0.00001
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00001
|
NM_002693.3(POLG):c.2870C>T (p.Ala957Val)
|
rs753160398
|
0.00001
|
NM_002693.3(POLG):c.3258G>A (p.Ser1086=)
|
rs763312940
|
0.00001
|
NM_002693.3(POLG):c.330C>T (p.His110=)
|
rs376266682
|
0.00001
|
NM_002693.3(POLG):c.581C>T (p.Ala194Val)
|
rs779122022
|
0.00001
|
NM_002693.3(POLG):c.603C>T (p.Val201=)
|
rs768005050
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)
|
rs397507546
|
0.00001
|
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala)
|
rs886043790
|
0.00001
|
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr)
|
rs199626036
|
0.00001
|
NM_002968.3(SALL1):c.2825C>A (p.Pro942His)
|
rs751069468
|
0.00001
|
NM_002979.5(SCP2):c.1347A>G (p.Glu449=)
|
rs376582235
|
0.00001
|
NM_002979.5(SCP2):c.648T>C (p.Phe216=)
|
rs774694600
|
0.00001
|
NM_003001.5(SDHC):c.420A>G (p.Gly140=)
|
rs794727791
|
0.00001
|
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)
|
rs72552734
|
0.00001
|
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)
|
rs121908888
|
0.00001
|
NM_003073.5(SMARCB1):c.362+8G>A
|
rs727504162
|
0.00001
|
NM_003119.4(SPG7):c.1A>G (p.Met1Val)
|
rs794726906
|
0.00001
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=)
|
rs771212750
|
0.00001
|
NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=)
|
rs975080118
|
0.00001
|
NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu)
|
rs574231443
|
0.00001
|
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=)
|
rs374077422
|
0.00001
|
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)
|
rs1258008817
|
0.00001
|
NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu)
|
rs398123762
|
0.00001
|
NM_003630.3(PEX3):c.288-1G>A
|
rs752904598
|
0.00001
|
NM_003630.3(PEX3):c.389G>A (p.Arg130Gln)
|
rs758701470
|
0.00001
|
NM_003630.3(PEX3):c.513A>G (p.Leu171=)
|
rs769938240
|
0.00001
|
NM_003630.3(PEX3):c.748-4A>G
|
rs1024883914
|
0.00001
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
NM_003659.4(AGPS):c.549A>G (p.Val183=)
|
rs774279058
|
0.00001
|
NM_003659.4(AGPS):c.891T>C (p.Cys297=)
|
rs755884284
|
0.00001
|
NM_003673.4(TCAP):c.225C>T (p.Gly75=)
|
rs754744780
|
0.00001
|
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter)
|
rs794729175
|
0.00001
|
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)
|
rs141019458
|
0.00001
|
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)
|
rs760750012
|
0.00001
|
NM_003742.4(ABCB11):c.216T>C (p.His72=)
|
rs1174260635
|
0.00001
|
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)
|
rs886043986
|
0.00001
|
NM_003742.4(ABCB11):c.2457C>A (p.Ala819=)
|
rs1398103963
|
0.00001
|
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=)
|
rs775663263
|
0.00001
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
NM_003742.4(ABCB11):c.2628C>T (p.Ile876=)
|
rs200127070
|
0.00001
|
NM_003742.4(ABCB11):c.2655C>T (p.Asn885=)
|
rs756738723
|
0.00001
|
NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn)
|
rs760920706
|
0.00001
|
NM_003742.4(ABCB11):c.2988T>C (p.Asn996=)
|
rs762824612
|
0.00001
|
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His)
|
rs756220860
|
0.00001
|
NM_003742.4(ABCB11):c.3766-10C>T
|
rs369104228
|
0.00001
|
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=)
|
rs773371540
|
0.00001
|
NM_003816.3(ADAM9):c.2160G>A (p.Arg720=)
|
rs536279890
|
0.00001
|
NM_003835.4(RGS9):c.1645C>T (p.Arg549Cys)
|
rs574696410
|
0.00001
|
NM_003835.4(RGS9):c.1662C>T (p.Thr554=)
|
rs200492363
|
0.00001
|
NM_003846.3(PEX11B):c.192A>G (p.Ser64=)
|
rs781844151
|
0.00001
|
NM_003846.3(PEX11B):c.375-7G>A
|
rs1049689144
|
0.00001
|
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu)
|
rs28936703
|
0.00001
|
NM_003977.4(AIP):c.345G>C (p.Leu115=)
|
rs996404334
|
0.00001
|
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln)
|
rs780293535
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
|
rs1378679640
|
0.00001
|
NM_004006.3(DMD):c.1058C>T (p.Ser353Leu)
|
rs374713915
|
0.00001
|
NM_004006.3(DMD):c.1150-4T>A
|
rs794727031
|
0.00001
|
NM_004006.3(DMD):c.1582G>A (p.Ala528Thr)
|
rs201067368
|
0.00001
|
NM_004006.3(DMD):c.243G>A (p.Leu81=)
|
rs748842563
|
0.00001
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
NM_004006.3(DMD):c.2937C>T (p.Leu979=)
|
rs774450833
|
0.00001
|
NM_004006.3(DMD):c.3688C>T (p.Pro1230Ser)
|
rs886042862
|
0.00001
|
NM_004006.3(DMD):c.4561A>G (p.Met1521Val)
|
rs757350813
|
0.00001
|
NM_004006.3(DMD):c.4773T>C (p.Asp1591=)
|
rs886044358
|
0.00001
|
NM_004006.3(DMD):c.4775T>C (p.Met1592Thr)
|
rs398123966
|
0.00001
|
NM_004006.3(DMD):c.4995C>T (p.Ser1665=)
|
rs775659020
|
0.00001
|
NM_004006.3(DMD):c.5658T>C (p.Ala1886=)
|
rs398123994
|
0.00001
|
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg)
|
rs773782786
|
0.00001
|
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr)
|
rs747055774
|
0.00001
|
NM_004006.3(DMD):c.6973C>A (p.Gln2325Lys)
|
rs781054741
|
0.00001
|
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)
|
rs398124041
|
0.00001
|
NM_004006.3(DMD):c.7956T>C (p.Ser2652=)
|
rs757902182
|
0.00001
|
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)
|
rs755445214
|
0.00001
|
NM_004006.3(DMD):c.8508C>T (p.Gly2836=)
|
rs374374549
|
0.00001
|
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln)
|
rs754308757
|
0.00001
|
NM_004006.3(DMD):c.8847G>A (p.Lys2949=)
|
rs185664502
|
0.00001
|
NM_004006.3(DMD):c.8913C>T (p.Leu2971=)
|
rs780354925
|
0.00001
|
NM_004006.3(DMD):c.9051G>A (p.Leu3017=)
|
rs772255929
|
0.00001
|
NM_004086.3(COCH):c.239+5G>A
|
rs563163157
|
0.00001
|
NM_004086.3(COCH):c.482-4G>A
|
rs773935807
|
0.00001
|
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)
|
rs781636798
|
0.00001
|
NM_004281.4(BAG3):c.465A>G (p.Ala155=)
|
rs775151738
|
0.00001
|
NM_004333.6(BRAF):c.1305G>A (p.Arg435=)
|
rs763771673
|
0.00001
|
NM_004360.5(CDH1):c.1500C>T (p.Gly500=)
|
rs781317341
|
0.00001
|
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=)
|
rs762463347
|
0.00001
|
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=)
|
rs752530417
|
0.00001
|
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)
|
rs760380736
|
0.00001
|
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=)
|
rs200621867
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.6156+5G>A
|
rs112374074
|
0.00001
|
NM_004369.4(COL6A3):c.6754-9C>G
|
rs886038542
|
0.00001
|
NM_004369.4(COL6A3):c.7029+3A>G
|
rs886044464
|
0.00001
|
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=)
|
rs778474394
|
0.00001
|
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=)
|
rs769124771
|
0.00001
|
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=)
|
rs772967228
|
0.00001
|
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)
|
rs766320521
|
0.00001
|
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=)
|
rs1053049323
|
0.00001
|
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)
|
rs373310969
|
0.00001
|
NM_004380.3(CREBBP):c.5517C>T (p.Pro1839=)
|
rs760307939
|
0.00001
|
NM_004393.6(DAG1):c.2652C>A (p.Thr884=)
|
rs762428862
|
0.00001
|
NM_004393.6(DAG1):c.498G>A (p.Ser166=)
|
rs794727500
|
0.00001
|
NM_004407.4(DMP1):c.402G>A (p.Leu134=)
|
rs780110476
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004463.3(FGD1):c.714C>T (p.Pro238=)
|
rs747008412
|
0.00001
|
NM_004482.4(GALNT3):c.591G>A (p.Ala197=)
|
rs766232837
|
0.00001
|
NM_004484.4(GPC3):c.171G>A (p.Val57=)
|
rs398124166
|
0.00001
|
NM_004519.4(KCNQ3):c.604+10G>T
|
rs541587196
|
0.00001
|
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala)
|
rs143822500
|
0.00001
|
NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly)
|
rs569242465
|
0.00001
|
NM_004560.4(ROR2):c.938-6G>C
|
rs769467387
|
0.00001
|
NM_004608.4(TBX6):c.298C>T (p.Leu100=)
|
rs759383268
|
0.00001
|
NM_004817.4(TJP2):c.1056+8G>C
|
rs779964139
|
0.00001
|
NM_004817.4(TJP2):c.1960T>C (p.Leu654=)
|
rs765975804
|
0.00001
|
NM_004817.4(TJP2):c.2239T>C (p.Leu747=)
|
rs886043789
|
0.00001
|
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys)
|
rs201202451
|
0.00001
|
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=)
|
rs745427593
|
0.00001
|
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=)
|
rs761272308
|
0.00001
|
NM_004817.4(TJP2):c.61-7267A>G
|
rs896087137
|
0.00001
|
NM_004817.4(TJP2):c.966G>T (p.Arg322=)
|
rs199857597
|
0.00001
|
NM_004820.5(CYP7B1):c.339A>G (p.Val113=)
|
rs770923196
|
0.00001
|
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)
|
rs754730601
|
0.00001
|
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=)
|
rs746555297
|
0.00001
|
NM_004836.7(EIF2AK3):c.2052C>G (p.Leu684=)
|
rs1013032001
|
0.00001
|
NM_004836.7(EIF2AK3):c.270G>C (p.Pro90=)
|
rs762693700
|
0.00001
|
NM_004839.4(HOMER2):c.33G>A (p.Ala11=)
|
rs201522712
|
0.00001
|
NM_004937.3(CTNS):c.612C>T (p.Asn204=)
|
rs200170842
|
0.00001
|
NM_005005.3(NDUFB9):c.530G>A (p.Arg177Gln)
|
rs780144498
|
0.00001
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
NM_005188.4(CBL):c.1320C>T (p.Gly440=)
|
rs794727972
|
0.00001
|
NM_005199.5(CHRNG):c.806-7T>C
|
rs773463683
|
0.00001
|
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)
|
rs281860303
|
0.00001
|
NM_005413.4(SIX3):c.876C>G (p.Gly292=)
|
rs886043297
|
0.00001
|
NM_005422.4(TECTA):c.1572C>T (p.Cys524=)
|
rs767426110
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
0.00001
|
NM_005477.3(HCN4):c.1459G>A (p.Val487Met)
|
rs202037304
|
0.00001
|
NM_005477.3(HCN4):c.2055C>T (p.Ser685=)
|
rs886042819
|
0.00001
|
NM_005477.3(HCN4):c.2523G>A (p.Ser841=)
|
rs768157473
|
0.00001
|
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=)
|
rs560919408
|
0.00001
|
NM_005529.7(HSPG2):c.3747C>T (p.Cys1249=)
|
rs886042933
|
0.00001
|
NM_005529.7(HSPG2):c.8199A>G (p.Ser2733=)
|
rs886044168
|
0.00001
|
NM_005633.4(SOS1):c.2728G>C (p.Asp910His)
|
rs369277679
|
0.00001
|
NM_005708.5(GPC6):c.930G>A (p.Ser310=)
|
rs754858999
|
0.00001
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
NM_005989.4(AKR1D1):c.24C>T (p.His8=)
|
rs138462322
|
0.00001
|
NM_006005.3(WFS1):c.1416C>A (p.Pro472=)
|
rs530734300
|
0.00001
|
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys)
|
rs201078003
|
0.00001
|
NM_006019.4(TCIRG1):c.1583G>C (p.Ser528Thr)
|
rs555362865
|
0.00001
|
NM_006019.4(TCIRG1):c.60G>A (p.Ala20=)
|
rs111424326
|
0.00001
|
NM_006031.6(PCNT):c.1593G>A (p.Glu531=)
|
rs767430243
|
0.00001
|
NM_006059.4(LAMC3):c.4031-10G>A
|
rs555619019
|
0.00001
|
NM_006059.4(LAMC3):c.4698C>T (p.Ser1566=)
|
rs754122699
|
0.00001
|
NM_006086.4(TUBB3):c.606C>T (p.Ile202=)
|
rs576180572
|
0.00001
|
NM_006129.5(BMP1):c.2745C>T (p.Thr915=)
|
rs374251317
|
0.00001
|
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg)
|
rs777367269
|
0.00001
|
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=)
|
rs548504035
|
0.00001
|
NM_006261.5(PROP1):c.456T>C (p.Ala152=)
|
rs758911793
|
0.00001
|
NM_006294.5(UQCRB):c.306_309del (p.Arg105fs)
|
rs886043294
|
0.00001
|
NM_006343.3(MERTK):c.1938C>T (p.His646=)
|
rs1309440527
|
0.00001
|
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys)
|
rs398124227
|
0.00001
|
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)
|
rs534770840
|
0.00001
|
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=)
|
rs794726996
|
0.00001
|
NM_006516.4(SLC2A1):c.19-4G>A
|
rs398124229
|
0.00001
|
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser)
|
rs753700157
|
0.00001
|
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met)
|
rs750975358
|
0.00001
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
NM_006790.3(MYOT):c.630G>A (p.Ser210=)
|
rs375308029
|
0.00001
|
NM_006859.4(LIAS):c.983T>A (p.Phe328Tyr)
|
rs1064793165
|
0.00001
|
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile)
|
rs1328577241
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_007254.4(PNKP):c.762C>T (p.His254=)
|
rs794727920
|
0.00001
|
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=)
|
rs1800064
|
0.00001
|
NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu)
|
rs397507206
|
0.00001
|
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=)
|
rs758515222
|
0.00001
|
NM_007294.4(BRCA1):c.4097-10G>A
|
rs80358057
|
0.00001
|
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=)
|
rs786201224
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
NM_007373.4(SHOC2):c.183A>G (p.Gln61=)
|
rs371640183
|
0.00001
|
NM_012193.4(FZD4):c.729C>T (p.Ile243=)
|
rs560649393
|
0.00001
|
NM_012210.4(TRIM32):c.1326T>A (p.Ile442=)
|
rs1372713940
|
0.00001
|
NM_012210.4(TRIM32):c.1386G>A (p.Val462=)
|
rs762905941
|
0.00001
|
NM_012254.3(SLC27A5):c.1182+7C>T
|
rs376013474
|
0.00001
|
NM_012254.3(SLC27A5):c.1498G>T (p.Val500Leu)
|
rs748584848
|
0.00001
|
NM_012254.3(SLC27A5):c.169G>A (p.Gly57Ser)
|
rs887693979
|
0.00001
|
NM_012418.4(FSCN2):c.1274-6C>T
|
rs1048819854
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1514+1G>A
|
rs374480381
|
0.00001
|
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val)
|
rs886043402
|
0.00001
|
NM_012470.4(TNPO3):c.189T>C (p.Ala63=)
|
rs755216120
|
0.00001
|
NM_013382.7(POMT2):c.651C>T (p.Ala217=)
|
rs147845081
|
0.00001
|
NM_014014.5(SNRNP200):c.3354C>T (p.Ile1118=)
|
rs376352502
|
0.00001
|
NM_014014.5(SNRNP200):c.5520C>G (p.Thr1840=)
|
rs368225080
|
0.00001
|
NM_014053.4(FLVCR1):c.501G>A (p.Leu167=)
|
rs886043715
|
0.00001
|
NM_014141.6(CNTNAP2):c.273T>C (p.Asn91=)
|
rs773595457
|
0.00001
|
NM_014141.6(CNTNAP2):c.3132G>A (p.Pro1044=)
|
rs761663690
|
0.00001
|
NM_014141.6(CNTNAP2):c.3402G>A (p.Val1134=)
|
rs727503877
|
0.00001
|
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)
|
rs747257110
|
0.00001
|
NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=)
|
rs199735534
|
0.00001
|
NM_014324.6(AMACR):c.714C>G (p.Pro238=)
|
rs200824585
|
0.00001
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
NM_014425.5(INVS):c.1980A>G (p.Gly660=)
|
rs139314036
|
0.00001
|
NM_014780.5(CUL7):c.1005G>A (p.Leu335=)
|
rs201310376
|
0.00001
|
NM_014780.5(CUL7):c.4068A>G (p.Glu1356=)
|
rs886043610
|
0.00001
|
NM_014795.4(ZEB2):c.773G>A (p.Arg258Gln)
|
rs730881173
|
0.00001
|
NM_014920.5(CILK1):c.1412C>T (p.Thr471Met)
|
rs56164633
|
0.00001
|
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=)
|
rs1036816659
|
0.00001
|
NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=)
|
rs377183096
|
0.00001
|
NM_015102.5(NPHP4):c.4143C>T (p.Val1381=)
|
rs766613810
|
0.00001
|
NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=)
|
rs754549864
|
0.00001
|
NM_015102.5(NPHP4):c.510C>T (p.Pro170=)
|
rs545943420
|
0.00001
|
NM_015107.3(PHF8):c.1731-1G>A
|
rs797044651
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=)
|
rs779429646
|
0.00001
|
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)
|
rs780770984
|
0.00001
|
NM_015295.3(SMCHD1):c.3277-5C>T
|
rs542259388
|
0.00001
|
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met)
|
rs536643888
|
0.00001
|
NM_015311.3(OBSL1):c.2681-7C>T
|
rs1193236223
|
0.00001
|
NM_015404.4(WHRN):c.1632T>C (p.Thr544=)
|
rs759107735
|
0.00001
|
NM_015570.4(AUTS2):c.770C>G (p.Pro257Arg)
|
rs200108105
|
0.00001
|
NM_015629.4(PRPF31):c.837C>T (p.Ile279=)
|
rs1374316824
|
0.00001
|
NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His)
|
rs794727645
|
0.00001
|
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg)
|
rs576515898
|
0.00001
|
NM_016239.4(MYO15A):c.3866+1G>A
|
rs374742590
|
0.00001
|
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys)
|
rs371352836
|
0.00001
|
NM_016247.4(IMPG2):c.829-1G>T
|
rs776740276
|
0.00001
|
NM_016729.3(FOLR1):c.261C>T (p.Asn87=)
|
rs375444839
|
0.00001
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=)
|
rs368963607
|
0.00001
|
NM_017668.3(NDE1):c.513T>C (p.Asp171=)
|
rs794727785
|
0.00001
|
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)
|
rs200730202
|
0.00001
|
NM_017777.4(MKS1):c.959-8T>G
|
rs763444295
|
0.00001
|
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys)
|
rs201769233
|
0.00001
|
NM_017780.4(CHD7):c.768C>T (p.Phe256=)
|
rs727503859
|
0.00001
|
NM_018006.5(TRMU):c.579G>T (p.Gly193=)
|
rs1294405938
|
0.00001
|
NM_018006.5(TRMU):c.651+9G>A
|
rs1006261196
|
0.00001
|
NM_018006.5(TRMU):c.705+10del
|
rs1569081805
|
0.00001
|
NM_018006.5(TRMU):c.879C>T (p.Pro293=)
|
rs781401971
|
0.00001
|
NM_018006.5(TRMU):c.954C>T (p.Pro318=)
|
rs758271660
|
0.00001
|
NM_018100.4(EFHC1):c.564A>G (p.Gln188=)
|
rs766444850
|
0.00001
|
NM_018122.5(DARS2):c.159_160del (p.Cys54fs)
|
rs773706813
|
0.00001
|
NM_018136.5(ASPM):c.174A>T (p.Gly58=)
|
rs908430857
|
0.00001
|
NM_018136.5(ASPM):c.4035A>G (p.Lys1345=)
|
rs537034419
|
0.00001
|
NM_018451.5(CPAP):c.2457T>C (p.Tyr819=)
|
rs780573822
|
0.00001
|
NM_018668.5(VPS33B):c.456G>T (p.Leu152=)
|
rs997425993
|
0.00001
|
NM_018668.5(VPS33B):c.75G>A (p.Gln25=)
|
rs1289650070
|
0.00001
|
NM_019066.5(MAGEL2):c.42G>A (p.Pro14=)
|
rs794726942
|
0.00001
|
NM_020223.4(FAM20C):c.915C>T (p.Tyr305=)
|
rs150808056
|
0.00001
|
NM_020247.5(COQ8A):c.819G>A (p.Ala273=)
|
rs371866536
|
0.00001
|
NM_020247.5(COQ8A):c.957C>T (p.Asp319=)
|
rs764147237
|
0.00001
|
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg)
|
rs113920122
|
0.00001
|
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter)
|
rs778868393
|
0.00001
|
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu)
|
rs200233879
|
0.00001
|
NM_020779.4(WDR35):c.1468del (p.Gln490fs)
|
rs886044119
|
0.00001
|
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter)
|
rs372751467
|
0.00001
|
NM_020822.3(KCNT1):c.2594+6G>A
|
rs973179248
|
0.00001
|
NM_020822.3(KCNT1):c.285C>T (p.Asn95=)
|
rs558966732
|
0.00001
|
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln)
|
rs752032951
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_021167.5(GATAD1):c.*4A>G
|
rs768338694
|
0.00001
|
NM_021939.4(FKBP10):c.1399+8G>T
|
rs782073490
|
0.00001
|
NM_022081.6(HPS4):c.2040C>T (p.Ser680=)
|
rs752931351
|
0.00001
|
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=)
|
rs756336099
|
0.00001
|
NM_022124.6(CDH23):c.8065-8G>A
|
rs376332131
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_022124.6(CDH23):c.9759C>T (p.Asp3253=)
|
rs540567272
|
0.00001
|
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)
|
rs886044572
|
0.00001
|
NM_022436.3(ABCG5):c.1602G>C (p.Val534=)
|
rs1280735521
|
0.00001
|
NM_022436.3(ABCG5):c.780T>C (p.Phe260=)
|
rs765847597
|
0.00001
|
NM_022436.3(ABCG5):c.828G>A (p.Thr276=)
|
rs539178581
|
0.00001
|
NM_022437.3(ABCG8):c.1059G>C (p.Val353=)
|
rs751866338
|
0.00001
|
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)
|
rs554680915
|
0.00001
|
NM_022437.3(ABCG8):c.1211+7A>T
|
rs568899040
|
0.00001
|
NM_022437.3(ABCG8):c.1212-10G>C
|
rs765938367
|
0.00001
|
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=)
|
rs763640657
|
0.00001
|
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=)
|
rs776778929
|
0.00001
|
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=)
|
rs369023184
|
0.00001
|
NM_022437.3(ABCG8):c.579G>A (p.Ala193=)
|
rs747555833
|
0.00001
|
NM_022455.5(NSD1):c.2103G>A (p.Lys701=)
|
rs727504053
|
0.00001
|
NM_022455.5(NSD1):c.3355C>G (p.Pro1119Ala)
|
rs727504054
|
0.00001
|
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=)
|
rs398124388
|
0.00001
|
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)
|
rs201014417
|
0.00001
|
NM_023036.6(DNAI2):c.1697del (p.Asp566fs)
|
rs764971993
|
0.00001
|
NM_023110.3(FGFR1):c.615C>T (p.Gly205=)
|
rs781689191
|
0.00001
|
NM_024079.5(ALG8):c.1134G>T (p.Trp378Cys)
|
rs867450807
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)
|
rs761821795
|
0.00001
|
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)
|
rs753390261
|
0.00001
|
NM_024301.5(FKRP):c.703C>T (p.Leu235=)
|
rs1428469954
|
0.00001
|
NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=)
|
rs782178170
|
0.00001
|
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=)
|
rs781999109
|
0.00001
|
NM_024408.4(NOTCH2):c.2026+6G>T
|
rs587731563
|
0.00001
|
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=)
|
rs372751663
|
0.00001
|
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=)
|
rs587748556
|
0.00001
|
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)
|
rs587654671
|
0.00001
|
NM_024408.4(NOTCH2):c.822T>G (p.Val274=)
|
rs782642000
|
0.00001
|
NM_024596.5(MCPH1):c.954T>C (p.Ala318=)
|
rs770723949
|
0.00001
|
NM_024649.5(BBS1):c.1743C>T (p.His581=)
|
rs61890368
|
0.00001
|
NM_024675.4(PALB2):c.2505C>T (p.Ser835=)
|
rs756502783
|
0.00001
|
NM_024685.4(BBS10):c.483A>G (p.Lys161=)
|
rs748732850
|
0.00001
|
NM_024747.6(HPS6):c.105T>C (p.Arg35=)
|
rs573488604
|
0.00001
|
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=)
|
rs201655114
|
0.00001
|
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu)
|
rs35285441
|
0.00001
|
NM_025074.7(FRAS1):c.6876T>C (p.Asp2292=)
|
rs779794904
|
0.00001
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp)
|
rs549244691
|
0.00001
|
NM_030665.4(RAI1):c.1937A>C (p.His646Pro)
|
rs757197196
|
0.00001
|
NM_030665.4(RAI1):c.3720C>T (p.Val1240=)
|
rs778274557
|
0.00001
|
NM_030665.4(RAI1):c.3913G>A (p.Ala1305Thr)
|
rs794727521
|
0.00001
|
NM_030665.4(RAI1):c.4616G>A (p.Arg1539His)
|
rs776440167
|
0.00001
|
NM_031407.7(HUWE1):c.10492G>A (p.Ala3498Thr)
|
rs782773400
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val)
|
rs727503078
|
0.00001
|
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=)
|
rs373902384
|
0.00001
|
NM_032119.4(ADGRV1):c.12176C>T (p.Thr4059Met)
|
rs376833921
|
0.00001
|
NM_032119.4(ADGRV1):c.1254A>G (p.Thr418=)
|
rs1315101894
|
0.00001
|
NM_032119.4(ADGRV1):c.15959A>T (p.Asp5320Val)
|
rs398124425
|
0.00001
|
NM_032119.4(ADGRV1):c.16745C>T (p.Thr5582Met)
|
rs771468922
|
0.00001
|
NM_032119.4(ADGRV1):c.17349A>G (p.Ala5783=)
|
rs747992951
|
0.00001
|
NM_032119.4(ADGRV1):c.17794A>C (p.Arg5932=)
|
rs747728554
|
0.00001
|
NM_032119.4(ADGRV1):c.17973+7A>G
|
rs751094041
|
0.00001
|
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=)
|
rs181146384
|
0.00001
|
NM_032119.4(ADGRV1):c.2735-8T>C
|
rs1181016921
|
0.00001
|
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)
|
rs369910075
|
0.00001
|
NM_032119.4(ADGRV1):c.3563T>C (p.Ile1188Thr)
|
rs368562997
|
0.00001
|
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp)
|
rs794727329
|
0.00001
|
NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=)
|
rs772972763
|
0.00001
|
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val)
|
rs1299020576
|
0.00001
|
NM_032119.4(ADGRV1):c.8292G>A (p.Ser2764=)
|
rs778011573
|
0.00001
|
NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val)
|
rs1250073917
|
0.00001
|
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=)
|
rs397517442
|
0.00001
|
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)
|
rs546358774
|
0.00001
|
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=)
|
rs727504070
|
0.00001
|
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)
|
rs529962978
|
0.00001
|
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=)
|
rs727504069
|
0.00001
|
NM_033109.5(PNPT1):c.1923G>A (p.Gln641=)
|
rs779794474
|
0.00001
|
NM_033337.3(CAV3):c.-2C>T
|
rs772475990
|
0.00001
|
NM_033337.3(CAV3):c.117G>C (p.Val39=)
|
rs753959620
|
0.00001
|
NM_053025.4(MYLK):c.588+10C>T
|
rs886038709
|
0.00001
|
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)
|
rs771937610
|
0.00001
|
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln)
|
rs762813373
|
0.00001
|
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln)
|
rs528982644
|
0.00001
|
NM_080916.3(DGUOK):c.143-4G>A
|
rs544350167
|
0.00001
|
NM_080916.3(DGUOK):c.405G>A (p.Lys135=)
|
rs775871024
|
0.00001
|
NM_080916.3(DGUOK):c.494A>T (p.Glu165Val)
|
rs770950831
|
0.00001
|
NM_080916.3(DGUOK):c.808-10C>G
|
rs758503693
|
0.00001
|
NM_130468.4(CHST14):c.198C>G (p.Ala66=)
|
rs1014902072
|
0.00001
|
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)
|
rs397515621
|
0.00001
|
NM_130837.3(OPA1):c.1398T>C (p.Ala466=)
|
rs886043473
|
0.00001
|
NM_130837.3(OPA1):c.1936-2A>G
|
rs747454971
|
0.00001
|
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg)
|
rs139106405
|
0.00001
|
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr)
|
rs143929819
|
0.00001
|
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)
|
rs371296838
|
0.00001
|
NM_133379.5(TTN):c.11940T>C (p.Asn3980=)
|
rs923904530
|
0.00001
|
NM_133379.5(TTN):c.14055A>G (p.Arg4685=)
|
rs1466986172
|
0.00001
|
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)
|
rs555179389
|
0.00001
|
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)
|
rs372730081
|
0.00001
|
NM_133433.4(NIPBL):c.772-8A>G
|
rs398124473
|
0.00001
|
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
|
rs372629986
|
0.00001
|
NM_138364.4(PRMT9):c.773A>T (p.Asp258Val)
|
rs200956405
|
0.00001
|
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=)
|
rs1290859259
|
0.00001
|
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)
|
rs1562217633
|
0.00001
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=)
|
rs535128714
|
0.00001
|
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=)
|
rs373208457
|
0.00001
|
NM_138694.4(PKHD1):c.642G>A (p.Gln214=)
|
rs762584715
|
0.00001
|
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=)
|
rs771622189
|
0.00001
|
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)
|
rs771563591
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=)
|
rs777095602
|
0.00001
|
NM_144573.4(NEXN):c.1653A>G (p.Leu551=)
|
rs794727078
|
0.00001
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe)
|
rs762404021
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152564.5(VPS13B):c.2651-10T>G
|
rs398124330
|
0.00001
|
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=)
|
rs751715193
|
0.00001
|
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)
|
rs533701597
|
0.00001
|
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)
|
rs138453594
|
0.00001
|
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter)
|
rs201915239
|
0.00001
|
NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=)
|
rs571386763
|
0.00001
|
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)
|
rs558637226
|
0.00001
|
NM_153240.5(NPHP3):c.306C>T (p.Arg102=)
|
rs762134618
|
0.00001
|
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp)
|
rs553665584
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.2391G>A (p.Val797=)
|
rs375973884
|
0.00001
|
NM_153676.4(USH1C):c.966G>C (p.Arg322=)
|
rs748749433
|
0.00001
|
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)
|
rs769957689
|
0.00001
|
NM_170707.4(LMNA):c.111G>A (p.Glu37=)
|
rs886038906
|
0.00001
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)
|
rs28928902
|
0.00001
|
NM_170707.4(LMNA):c.1488+8G>A
|
rs762836610
|
0.00001
|
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)
|
rs57629361
|
0.00001
|
NM_170707.4(LMNA):c.498G>A (p.Arg166=)
|
rs886043189
|
0.00001
|
NM_170707.4(LMNA):c.643C>T (p.Leu215=)
|
rs397517905
|
0.00001
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
NM_170707.4(LMNA):c.732G>A (p.Ala244=)
|
rs756952925
|
0.00001
|
NM_170707.4(LMNA):c.870G>A (p.Glu290=)
|
rs747275587
|
0.00001
|
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=)
|
rs752280961
|
0.00001
|
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=)
|
rs764444302
|
0.00001
|
NM_176787.5(PIGN):c.562C>T (p.His188Tyr)
|
rs773629540
|
0.00001
|
NM_176787.5(PIGN):c.981dup (p.Met328fs)
|
rs776697598
|
0.00001
|
NM_176824.3(BBS7):c.189G>T (p.Gly63=)
|
rs541833400
|
0.00001
|
NM_176824.3(BBS7):c.213G>A (p.Leu71=)
|
rs778509860
|
0.00001
|
NM_178335.3(CCDC50):c.1430-9C>G
|
rs794727079
|
0.00001
|
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)
|
rs267607017
|
0.00001
|
NM_181332.3(NLGN4X):c.2223C>T (p.His741=)
|
rs541646409
|
0.00001
|
NM_182914.3(SYNE2):c.18393C>T (p.Ile6131=)
|
rs370317926
|
0.00001
|
NM_182961.4(SYNE1):c.10444-6T>C
|
rs376803162
|
0.00001
|
NM_182961.4(SYNE1):c.10650C>T (p.Asn3550=)
|
rs772377391
|
0.00001
|
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=)
|
rs149393972
|
0.00001
|
NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=)
|
rs746623465
|
0.00001
|
NM_182961.4(SYNE1):c.14079A>G (p.Gln4693=)
|
rs778820710
|
0.00001
|
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=)
|
rs146238726
|
0.00001
|
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=)
|
rs776418227
|
0.00001
|
NM_182961.4(SYNE1):c.20322G>A (p.Glu6774=)
|
rs758437949
|
0.00001
|
NM_182961.4(SYNE1):c.23145+6T>G
|
rs794727081
|
0.00001
|
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=)
|
rs201078523
|
0.00001
|
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)
|
rs765865910
|
0.00001
|
NM_182961.4(SYNE1):c.26355C>T (p.His8785=)
|
rs771334693
|
0.00001
|
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)
|
rs758375991
|
0.00001
|
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser)
|
rs568309673
|
0.00001
|
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=)
|
rs759403157
|
0.00001
|
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)
|
rs398124576
|
0.00001
|
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln)
|
rs760896684
|
0.00001
|
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys)
|
rs1064795233
|
0.00001
|
NM_198506.5(LRIT3):c.654C>T (p.Val218=)
|
rs763629262
|
0.00001
|
NM_198525.3(KIF7):c.510A>G (p.Glu170=)
|
rs761029778
|
0.00001
|
NM_198859.4(PRICKLE2):c.516G>A (p.Leu172=)
|
rs727504105
|
0.00001
|
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr)
|
rs398123523
|
0.00001
|
NM_198965.2(PTHLH):c.408G>A (p.Gln136=)
|
rs753350587
|
0.00001
|
NM_198999.3(SLC26A5):c.117T>G (p.Pro39=)
|
rs764308981
|
0.00001
|
NM_201384.3(PLEC):c.10359G>A (p.Lys3453=)
|
rs782140099
|
0.00001
|
NM_201384.3(PLEC):c.11562C>T (p.Arg3854=)
|
rs781931763
|
0.00001
|
NM_201384.3(PLEC):c.12354C>T (p.Leu4118=)
|
rs782692436
|
0.00001
|
NM_201384.3(PLEC):c.13023G>A (p.Val4341=)
|
rs567904252
|
0.00001
|
NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp)
|
rs782378494
|
0.00001
|
NM_201384.3(PLEC):c.537A>G (p.Arg179=)
|
rs782604399
|
0.00001
|
NM_201384.3(PLEC):c.5948G>A (p.Arg1983His)
|
rs527947459
|
0.00001
|
NM_201384.3(PLEC):c.8066G>A (p.Arg2689His)
|
rs782161008
|
0.00001
|
NM_201384.3(PLEC):c.8175G>A (p.Thr2725=)
|
rs1209777415
|
0.00001
|
NM_201384.3(PLEC):c.8202G>A (p.Ala2734=)
|
rs782252692
|
0.00001
|
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val)
|
rs935096656
|
0.00001
|
NM_201384.3(PLEC):c.9130C>T (p.Leu3044=)
|
rs782038680
|
0.00001
|
NM_201525.4(ADGRG1):c.1191C>T (p.Ala397=)
|
rs1367685651
|
0.00001
|
NM_201525.4(ADGRG1):c.1537C>T (p.Leu513=)
|
rs762771228
|
0.00001
|
NM_201525.4(ADGRG1):c.1578G>A (p.Thr526=)
|
rs727503955
|
0.00001
|
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val)
|
rs727505097
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)
|
rs774759345
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)
|
rs546494522
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
NM_206933.4(USH2A):c.3887T>C (p.Val1296Ala)
|
rs552551256
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6958-10A>G
|
rs727504213
|
0.00001
|
NM_207346.3(TSEN54):c.1276G>A (p.Val426Met)
|
rs747473434
|
0.00001
|
NM_207346.3(TSEN54):c.1527C>T (p.Asp509=)
|
rs201415896
|
0.00001
|
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr)
|
rs769767420
|
0.00001
|
NM_213599.3(ANO5):c.139-1del
|
rs868484837
|
0.00001
|
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp)
|
rs529961953
|
0.00001
|
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)
|
rs1323349209
|
0.00001
|
NM_213599.3(ANO5):c.1800+5G>A
|
rs794727179
|
0.00001
|
NM_213599.3(ANO5):c.1801-9T>C
|
rs202034123
|
0.00001
|
NM_213599.3(ANO5):c.185A>G (p.Gln62Arg)
|
rs754497228
|
0.00001
|
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)
|
rs753138577
|
0.00001
|
NM_213599.3(ANO5):c.2470del (p.Gln824fs)
|
rs770694933
|
0.00001
|
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter)
|
rs762035813
|
0.00001
|
CYP2C9*6
|
rs9332131
|
|
CYP2D6*17
|
rs28371706
|
|
NC_000011.10:g.17634839_17634845dup
|
rs1295062471
|
|
NC_000011.10:g.47349937del
|
rs11570050
|
|
NC_000011.10:g.77198597_77198604delinsCA
|
rs111033259
|
|
NC_000016.10:g.5071998A>G
|
rs794726944
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)
|
rs875989857
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)
|
rs398123089
|
|
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)
|
rs372114185
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
NM_000023.4(SGCA):c.38-46G>C
|
rs142537375
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)
|
rs574376340
|
|
NM_000023.4(SGCA):c.861G>A (p.Leu287=)
|
rs1555569293
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)
|
rs398123112
|
|
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)
|
rs398123113
|
|
NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala)
|
rs1569540711
|
|
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
|
rs146360505
|
|
NM_000036.3(AMPD1):c.35-7_35-4del
|
rs398123114
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
NM_000038.6(APC):c.4212C>T (p.Ser1404=)
|
rs144655979
|
|
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup)
|
rs3032358
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000049.4(ASPA):c.693C>T (p.Tyr231=)
|
rs12948217
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro)
|
rs786205482
|
|
NM_000059.4(BRCA2):c.1909+9_1909+10del
|
rs527732001
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.67+16A>T
|
rs529148674
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)
|
rs794727895
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1227A>C (p.Thr409=)
|
rs111806046
|
|
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)
|
rs111806046
|
|
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)
|
rs886042895
|
|
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)
|
rs1555422136
|
|
NM_000070.3(CAPN3):c.1745+4_1745+7del
|
rs794727082
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.2179del (p.Trp727fs)
|
rs886042964
|
|
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del)
|
rs886043333
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser)
|
rs886042296
|
|
NM_000070.3(CAPN3):c.580del (p.Ser194fs)
|
rs398123149
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)
|
rs863224966
|
|
NM_000071.3(CBS):c.1064C>T (p.Ala355Val)
|
rs772384826
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
NM_000079.4(CHRNA1):c.204G>A (p.Gln68=)
|
rs886043372
|
|
NM_000080.4(CHRNE):c.1093del (p.Ala365fs)
|
rs886043239
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)
|
rs369773321
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=)
|
rs759665341
|
|
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser)
|
rs886042260
|
|
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)
|
rs1555572418
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000088.4(COL1A1):c.3207+8G>T
|
rs866785621
|
|
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)
|
rs67394386
|
|
NM_000088.4(COL1A1):c.516C>T (p.Thr172=)
|
rs377195143
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)
|
rs56247709
|
|
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs)
|
rs794727760
|
|
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
|
rs2228560
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)
|
rs773994971
|
|
NM_000095.3(COMP):c.218-14C>T
|
rs150008764
|
|
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro)
|
rs1131691925
|
|
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)
|
rs515726173
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000101.4(CYBA):c.204-4C>A
|
rs377055239
|
|
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup)
|
rs760275837
|
|
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)
|
rs146770394
|
|
NM_000106.5(CYP2D6):c.*264G>A (p.Gly169Arg)
|
rs5030865
|
|
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter)
|
rs5030865
|
|
NM_000106.6(CYP2D6):c.841_843del (p.Lys281del)
|
rs5030656
|
|
NM_000117.3(EMD):c.144C>G (p.Leu48=)
|
rs200537612
|
|
NM_000117.3(EMD):c.460A>G (p.Met154Val)
|
rs782806462
|
|
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)
|
rs144594695
|
|
NM_000117.3(EMD):c.548C>T (p.Pro183Leu)
|
rs104894805
|
|
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)
|
rs782299893
|
|
NM_000124.4(ERCC6):c.2287-4G>A
|
rs375617750
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)
|
rs574272317
|
|
NM_000128.4(F11):c.1560G>T (p.Gly520=)
|
rs794727084
|
|
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
|
rs776969626
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe)
|
rs1352478541
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000141.5(FGFR2):c.1086G>C (p.Ala362=)
|
rs151250769
|
|
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)
|
rs199544087
|
|
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys)
|
rs886043613
|
|
NM_000143.4(FH):c.1067T>A (p.Leu356Ter)
|
rs727503927
|
|
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)
|
rs398123160
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)
|
rs1425094515
|
|
NM_000143.4(FH):c.437G>A (p.Gly146Glu)
|
rs11545654
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)
|
rs2070956
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)
|
rs755253527
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000153.4(GALC):c.1158_1161+6del
|
rs759068540
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000155.4(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.4(GALT):c.203A>C (p.His68Pro)
|
rs193922247
|
|
NM_000155.4(GALT):c.289_291del (p.Asn97del)
|
rs398123179
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000155.4(GALT):c.414G>T (p.Thr138=)
|
rs116479817
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
|
rs886043390
|
|
NM_000155.4(GALT):c.812A>G (p.Glu271Gly)
|
rs111033765
|
|
NM_000155.4(GALT):c.893T>C (p.Met298Thr)
|
rs886042064
|
|
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)
|
rs398123526
|
|
NM_000157.4(GBA1):c.1227C>A (p.Asn409Lys)
|
rs749227753
|
|
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)
|
rs398123528
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)
|
rs121908312
|
|
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys)
|
rs781152868
|
|
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg)
|
rs786200979
|
|
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)
|
rs398123191
|
|
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)
|
rs794726972
|
|
NM_000162.5(GCK):c.572G>A (p.Arg191Gln)
|
rs886042610
|
|
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)
|
rs794727775
|
|
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)
|
rs794727839
|
|
NM_000166.6(GJB1):c.271G>A (p.Val91Met)
|
rs756928158
|
|
NM_000168.6(GLI3):c.2826G>T (p.Pro942=)
|
rs34245321
|
|
NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter)
|
rs398123197
|
|
NM_000169.3(GLA):c.1072_1074del (p.Glu358del)
|
rs730880453
|
|
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)
|
rs782598150
|
|
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)
|
rs730880441
|
|
NM_000169.3(GLA):c.125T>C (p.Met42Thr)
|
rs398123201
|
|
NM_000169.3(GLA):c.137A>G (p.His46Arg)
|
rs398123203
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
NM_000169.3(GLA):c.254G>T (p.Gly85Val)
|
rs1569304898
|
|
NM_000169.3(GLA):c.281G>A (p.Cys94Tyr)
|
rs113173389
|
|
NM_000169.3(GLA):c.394G>A (p.Gly132Arg)
|
rs1555985855
|
|
NM_000169.3(GLA):c.610T>C (p.Trp204Arg)
|
rs869312148
|
|
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)
|
rs397515870
|
|
NM_000169.3(GLA):c.639+4A>T
|
rs398123215
|
|
NM_000169.3(GLA):c.704C>G (p.Ser235Cys)
|
rs797044746
|
|
NM_000169.3(GLA):c.801+3A>G
|
rs797044748
|
|
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla)
|
rs1555985004
|
|
NM_000169.3(GLA):c.865A>T (p.Ile289Phe)
|
rs140329381
|
|
NM_000169.3(GLA):c.95T>C (p.Leu32Pro)
|
rs1569306168
|
|
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr)
|
rs1558666591
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3393T>C (p.Leu1131=)
|
rs757716138
|
|
NM_000179.3(MSH6):c.3646+35_3646+38del
|
rs1805181
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg)
|
rs794726973
|
|
NM_000190.4(HMBS):c.962G>A (p.Arg321His)
|
rs150428209
|
|
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)
|
rs137852494
|
|
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg)
|
rs137852488
|
|
NM_000194.3(HPRT1):c.134+6_134+9del
|
rs794727238
|
|
NM_000195.5(HPS1):c.1653T>G (p.Thr551=)
|
rs765995574
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000202.8(IDS):c.419-16dup
|
rs781852261
|
|
NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
|
rs115790973
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
NM_000207.3(INS):c.188-31G>A
|
rs797045623
|
|
NM_000208.4(INSR):c.3165G>A (p.Ala1055=)
|
rs201445608
|
|
NM_000208.4(INSR):c.653-23TC[11]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-9T>C
|
rs868296217
|
|
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)
|
rs193922357
|
|
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter)
|
rs1555830976
|
|
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer)
|
rs1568796236
|
|
NM_000214.3(JAG1):c.2682+1G>T
|
rs1568792238
|
|
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
|
rs79338570
|
|
NM_000214.3(JAG1):c.294C>T (p.Ser98=)
|
rs79338570
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg)
|
rs1555831004
|
|
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=)
|
rs181106858
|
|
NM_000231.3(SGCG):c.196-6dup
|
rs568365779
|
|
NM_000231.3(SGCG):c.507G>T (p.Gly169=)
|
rs199905729
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.579-21_579-20del
|
rs769893030
|
|
NM_000231.3(SGCG):c.599del (p.Ser200fs)
|
rs886043860
|
|
NM_000232.5(SGCB):c.430-5dup
|
rs762831481
|
|
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)
|
rs886044103
|
|
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln)
|
rs71245621
|
|
NM_000235.4(LIPA):c.1032C>G (p.His344Gln)
|
rs779601441
|
|
NM_000235.4(LIPA):c.429-10T>G
|
rs1554865817
|
|
NM_000235.4(LIPA):c.539-5C>A
|
rs2297472
|
|
NM_000235.4(LIPA):c.615C>G (p.Ser205=)
|
rs143930279
|
|
NM_000235.4(LIPA):c.615C>T (p.Ser205=)
|
rs143930279
|
|
NM_000235.4(LIPA):c.618C>T (p.Val206=)
|
rs763651849
|
|
NM_000235.4(LIPA):c.885C>T (p.His295=)
|
rs886044197
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
NM_000249.4(MLH1):c.1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn)
|
rs886044782
|
|
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle)
|
rs398123271
|
|
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)
|
rs775593146
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs)
|
rs397515987
|
|
NM_000257.4(MYH7):c.1755C>T (p.Ile585=)
|
rs201860580
|
|
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile)
|
rs727503262
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)
|
rs794727410
|
|
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)
|
rs145734640
|
|
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)
|
rs397516260
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)
|
rs148343670
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=)
|
rs181729570
|
|
NM_000260.4(MYO7A):c.4441+8G>A
|
rs766743441
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp)
|
rs748080151
|
|
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=)
|
rs111033504
|
|
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)
|
rs948962
|
|
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup)
|
rs111033388
|
|
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)
|
rs86312
|
|
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro)
|
rs886042073
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000264.5(PTCH1):c.-24GGC[5]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.-24GGC[8]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.-24GGC[9]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.343G>T (p.Gly115Ter)
|
rs794727242
|
|
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=)
|
rs149691476
|
|
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)
|
rs357564
|
|
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)
|
rs773564643
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
NM_000266.3(NDP):c.-421_-408CTCTCTCTCTCTCC[1]
|
rs770996360
|
|
NM_000266.4(NDP):c.155T>A (p.Leu52Ter)
|
rs886043097
|
|
NM_000271.5(NPC1):c.1521C>T (p.Ala507=)
|
rs780100866
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1947+10G>A
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGC
|
rs1555634676
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+8_1947+11dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insC
|
rs1555634683
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000271.5(NPC1):c.67del (p.Gln23fs)
|
rs886043131
|
|
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del)
|
rs758687942
|
|
NM_000272.3(NPHP1):c.625-3dup
|
rs200118387
|
|
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser)
|
rs148468031
|
|
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg)
|
rs886043514
|
|
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)
|
rs771620099
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
|
rs797044784
|
|
NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly)
|
rs398123287
|
|
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)
|
rs137853263
|
|
NM_000277.3(PAH):c.1065+3A>G
|
rs62508689
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.510-20_510-18dup
|
rs398123293
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
|
rs150639487
|
|
NM_000283.4(PDE6B):c.928-9_940dup
|
rs539992414
|
|
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro)
|
rs794727621
|
|
NM_000286.3(PEX12):c.681-3_681-2del
|
rs138568975
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000287.4(PEX6):c.*438TAAA[1]
|
rs144286892
|
|
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)
|
rs886044436
|
|
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)
|
rs771063294
|
|
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)
|
rs398123303
|
|
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys)
|
rs375288192
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000287.4(PEX6):c.2095-21_2095-10del
|
rs772869377
|
|
NM_000287.4(PEX6):c.2301-5_2301-2del
|
rs748032659
|
|
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro)
|
rs61752141
|
|
NM_000287.4(PEX6):c.855C>A (p.Pro285=)
|
rs757897959
|
|
NM_000288.4(PEX7):c.130+10C>A
|
rs794726882
|
|
NM_000288.4(PEX7):c.330C>T (p.His110=)
|
rs199648976
|
|
NM_000288.4(PEX7):c.748-5del
|
rs563675060
|
|
NM_000291.4(PGK1):c.639C>T (p.Gly213=)
|
rs797044505
|
|
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys)
|
rs1555988071
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)
|
rs143370956
|
|
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
|
rs775982338
|
|
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)
|
rs112030253
|
|
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)
|
rs199422210
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)
|
rs749666891
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser)
|
rs139002629
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)
|
rs104894624
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
NM_000314.6(PTEN):c.-1170C>T
|
rs587779981
|
|
NM_000314.8(PTEN):c.165-24TTTG[2]
|
rs786204877
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)
|
rs587782343
|
|
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)
|
rs398123321
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
NM_000316.3(PTH1R):c.1716C>T (p.Asp572=)
|
rs200062157
|
|
NM_000318.3(PEX2):c.310dup (p.Ile104fs)
|
rs1235008965
|
|
NM_000318.3(PEX2):c.825C>T (p.Asp275=)
|
rs367649632
|
|
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)
|
rs572454921
|
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
|
NM_000327.4(ROM1):c.213G>A (p.Ala71=)
|
rs886042979
|
|
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys)
|
rs886043595
|
|
NM_000334.4(SCN4A):c.483-5C>G
|
rs191547933
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
NM_000337.6(SGCD):c.105G>C (p.Leu35=)
|
rs193922392
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[4]
|
rs727504998
|
|
NM_000337.6(SGCD):c.516A>G (p.Thr172=)
|
rs753952200
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000346.4(SOX9):c.507C>G (p.His169Gln)
|
rs2229989
|
|
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys)
|
rs777078540
|
|
NM_000350.3(ABCA4):c.1356+5_1356+6insC
|
rs1553193877
|
|
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His)
|
rs1243753206
|
|
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys)
|
rs398123338
|
|
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg)
|
rs794727220
|
|
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser)
|
rs1553190579
|
|
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=)
|
rs746250336
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)
|
rs1553186514
|
|
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser)
|
rs2297669
|
|
NM_000350.3(ABCA4):c.67-2A>G
|
rs398123339
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000350.3(ABCA4):c.870G>A (p.Arg290=)
|
rs794727902
|
|
NM_000360.4(TH):c.342G>A (p.Glu114=)
|
rs886038763
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
NM_000372.5(TYR):c.1037-10dup
|
rs747032303
|
|
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)
|
rs797046081
|
|
NM_000372.5(TYR):c.1392dup (p.Lys465Ter)
|
rs1555100853
|
|
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs)
|
rs1402167763
|
|
NM_000381.4(MID1):c.1767T>C (p.Asn589=)
|
rs750022332
|
|
NM_000381.4(MID1):c.661-7dup
|
rs375668839
|
|
NM_000381.4(MID1):c.661-8_661-7del
|
rs375668839
|
|
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)
|
rs1800520
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
|
|
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)
|
rs377282860
|
|
NM_000388.4(CASR):c.2229C>T (p.Leu743=)
|
rs372578790
|
|
NM_000388.4(CASR):c.2901C>A (p.Ile967=)
|
rs199594582
|
|
NM_000388.4(CASR):c.888C>T (p.Ser296=)
|
rs759988398
|
|
NM_000391.4(TPP1):c.244C>T (p.Leu82=)
|
rs794727623
|
|
NM_000391.4(TPP1):c.687+20C>T
|
rs569432039
|
|
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=)
|
rs4267009
|
|
NM_000392.5(ABCC2):c.1446C>T (p.Thr482=)
|
rs113646094
|
|
NM_000392.5(ABCC2):c.1968-1G>C
|
rs756707816
|
|
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=)
|
rs1554850241
|
|
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)
|
rs786205465
|
|
NM_000392.5(ABCC2):c.2620+10_2620+12del
|
rs764566414
|
|
NM_000392.5(ABCC2):c.2700C>T (p.Ser900=)
|
rs1184984382
|
|
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=)
|
rs139082536
|
|
NM_000392.5(ABCC2):c.3057G>A (p.Gln1019=)
|
rs144521346
|
|
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=)
|
rs564908429
|
|
NM_000392.5(ABCC2):c.3525C>G (p.Ala1175=)
|
rs1554853606
|
|
NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu)
|
rs8187692
|
|
NM_000392.5(ABCC2):c.3741+1G>A
|
rs34937870
|
|
NM_000392.5(ABCC2):c.3741+1G>T
|
rs34937870
|
|
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del)
|
rs749662916
|
|
NM_000392.5(ABCC2):c.417G>T (p.Ser139=)
|
rs145350474
|
|
NM_000392.5(ABCC2):c.4449C>T (p.Phe1483=)
|
rs756299268
|
|
NM_000392.5(ABCC2):c.601C>T (p.Leu201=)
|
rs749655460
|
|
NM_000392.5(ABCC2):c.636C>A (p.Ile212=)
|
rs1564673185
|
|
NM_000393.5(COL5A2):c.1455+6G>T
|
rs113512079
|
|
NM_000396.4(CTSK):c.541T>C (p.Tyr181His)
|
rs868112062
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)
|
rs72554665
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000404.4(GLB1):c.792+10G>T
|
rs79518579
|
|
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg)
|
rs1006852881
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000414.4(HSD17B4):c.1768-6_1768-4del
|
rs755128532
|
|
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)
|
rs398123368
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu)
|
rs35277491
|
|
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)
|
rs727503992
|
|
NM_000426.4(LAMA2):c.4312-19_4312-17del
|
rs398123374
|
|
NM_000426.4(LAMA2):c.5072-6del
|
rs398123376
|
|
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)
|
rs56173620
|
|
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer)
|
rs398123380
|
|
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs)
|
rs398123385
|
|
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs)
|
rs398123387
|
|
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)
|
rs200796753
|
|
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met)
|
rs934996
|
|
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)
|
rs13306575
|
|
NM_000436.4(OXCT1):c.78+10dup
|
rs368390833
|
|
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)
|
rs754012367
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000441.2(SLC26A4):c.1572C>T (p.Ile524=)
|
rs1562837305
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000443.4(ABCB4):c.102G>T (p.Thr34=)
|
rs1277340029
|
|
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=)
|
rs771303478
|
|
NM_000443.4(ABCB4):c.207A>G (p.Ser69=)
|
rs914166042
|
|
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=)
|
rs8187802
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_000443.4(ABCB4):c.303G>A (p.Ser101=)
|
rs886044650
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=)
|
rs1562950567
|
|
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=)
|
rs752578370
|
|
NM_000443.4(ABCB4):c.3486+10dup
|
rs8187809
|
|
NM_000443.4(ABCB4):c.3633+1G>T
|
rs1245472904
|
|
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=)
|
rs1029350022
|
|
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys)
|
rs886043680
|
|
NM_000444.6(PHEX):c.1586+3_1586+6del
|
rs886042234
|
|
NM_000451.4(SHOX):c.-55C>T
|
rs772910213
|
|
NM_000451.4(SHOX):c.144G>A (p.Glu48=)
|
rs750638027
|
|
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del)
|
rs776789883
|
|
NM_000452.2(SLC10A2):c.586-4dup
|
rs199940758
|
|
NM_000452.3(SLC10A2):c.1005G>C (p.Ser335=)
|
rs201571450
|
|
NM_000452.3(SLC10A2):c.269T>C (p.Phe90Ser)
|
rs199894506
|
|
NM_000452.3(SLC10A2):c.39T>C (p.Val13=)
|
rs201994393
|
|
NM_000452.3(SLC10A2):c.39T>G (p.Val13=)
|
rs201994393
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=)
|
rs761684626
|
|
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=)
|
rs773569563
|
|
NM_000458.4(HNF1B):c.1614C>T (p.Ser538=)
|
rs1568636744
|
|
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000458.4(HNF1B):c.300C>T (p.Thr100=)
|
rs369134247
|
|
NM_000458.4(HNF1B):c.345-4C>T
|
rs200590728
|
|
NM_000458.4(HNF1B):c.657C>G (p.Ser219=)
|
rs148713761
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
|
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
NM_000463.2(UGT1A1):c.-53_-52insTA
|
rs1559406508
|
|
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg)
|
rs1559414817
|
|
NM_000463.3(UGT1A1):c.1084+1G>T
|
rs587784535
|
|
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser)
|
rs755218546
|
|
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
|
rs35350960
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp)
|
rs73404416
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)
|
rs886043558
|
|
NM_000466.3(PEX1):c.363G>A (p.Leu121=)
|
rs200866361
|
|
NM_000466.3(PEX1):c.453G>A (p.Thr151=)
|
rs368714078
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr)
|
rs1057524727
|
|
NM_000478.6(ALPL):c.188G>T (p.Gly63Val)
|
rs1490668038
|
|
NM_000478.6(ALPL):c.395C>T (p.Ala132Val)
|
rs1558548925
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
NM_000478.6(ALPL):c.921G>A (p.Pro307=)
|
rs1553414111
|
|
NM_000487.6(ARSA):c.1211-10C>T
|
rs398123413
|
|
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)
|
rs74315455
|
|
NM_000489.6(ATRX):c.134-2A>G
|
rs398123420
|
|
NM_000489.6(ATRX):c.1446A>G (p.Glu482=)
|
rs886044778
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs)
|
rs797044723
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del)
|
rs397508194
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1766+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)
|
rs142394380
|
|
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)
|
rs121909020
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3717+40A>G
|
rs397508595
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)
|
rs150683293
|
|
NM_000492.4(CFTR):c.744-33GATT[8]
|
rs1805171
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.960A>G (p.Leu320=)
|
rs56093012
|
|
NM_000493.4(COL10A1):c.720G>A (p.Pro240=)
|
rs112875740
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)
|
rs781838239
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
NM_000501.4(ELN):c.1269C>T (p.Val423=)
|
rs61734583
|
|
NM_000515.5(GH1):c.16C>A (p.Arg6=)
|
rs140576665
|
|
NM_000515.5(GH1):c.7A>G (p.Thr3Ala)
|
rs2001345
|
|
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla)
|
rs745433225
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_000516.7(GNAS):c.213-5A>G
|
rs763548893
|
|
NM_000516.7(GNAS):c.2T>C (p.Met1Thr)
|
rs1555883949
|
|
NM_000516.7(GNAS):c.531-13_531-10del
|
rs576071932
|
|
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)
|
rs137854535
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000523.4(HOXD13):c.183_191del (p.Ala69_Ala71del)
|
rs749930395
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
|
rs1054487
|
|
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
NM_000531.6(OTC):c.228A>C (p.Leu76Phe)
|
rs1555972495
|
|
NM_000531.6(OTC):c.299-8del
|
rs764551624
|
|
NM_000531.6(OTC):c.572T>G (p.Leu191Arg)
|
rs72556297
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
NM_000533.5(PLP1):c.739G>A (p.Ala247Thr)
|
rs886043504
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.164-5T>C
|
rs1554305071
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-6_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)
|
rs1553781360
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)
|
rs772494345
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1])
|
rs398123469
|
|
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)
|
rs796065337
|
|
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=)
|
rs184450380
|
|
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=)
|
rs184450380
|
|
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)
|
rs794727985
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)
|
rs145167688
|
|
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=)
|
rs377664510
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys)
|
rs886042826
|
|
NM_000540.3(RYR1):c.14672G>A (p.Gly4891Asp)
|
rs398123470
|
|
NM_000540.3(RYR1):c.14680G>C (p.Ala4894Pro)
|
rs193922888
|
|
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)
|
rs886044196
|
|
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)
|
rs193922772
|
|
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)
|
rs369466056
|
|
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del)
|
rs559371263
|
|
NM_000540.3(RYR1):c.5736G>A (p.Glu1912=)
|
rs753416949
|
|
NM_000540.3(RYR1):c.6150G>A (p.Glu2050=)
|
rs727504131
|
|
NM_000540.3(RYR1):c.6904C>T (p.Leu2302=)
|
rs886042146
|
|
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs)
|
rs794727683
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=)
|
rs1465698
|
|
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG
|
rs1555786205
|
|
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)
|
rs794726889
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000543.5(SMPD1):c.567A>G (p.Lys189=)
|
rs750187574
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_000545.8(HNF1A):c.445A>G (p.Asn149Asp)
|
rs1565883574
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.559+8G>A
|
rs775915220
|
|
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)
|
rs754343186
|
|
NM_000548.5(TSC2):c.1258-10C>G
|
rs794727093
|
|
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)
|
rs764725850
|
|
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)
|
rs45473098
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=)
|
rs551938797
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000551.4(VHL):c.449del (p.Asn150fs)
|
rs794727253
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del)
|
rs781777438
|
|
NM_000557.5(GDF5):c.1299C>T (p.Cys433=)
|
rs886042958
|
|
NM_000660.7(TGFB1):c.1010G>C (p.Ser337Thr)
|
rs199699574
|
|
NM_000686.5(AGTR2):c.402del (p.Phe134fs)
|
rs387906503
|
|
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=)
|
rs537472446
|
|
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)
|
rs11549935
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
|
NM_000719.7(CACNA1C):c.2234T>C (p.Leu745Pro)
|
rs398123518
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=)
|
rs2229959
|
|
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)
|
rs45588436
|
|
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)
|
rs35873579
|
|
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=)
|
rs771343931
|
|
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu)
|
rs886043512
|
|
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=)
|
rs1177463640
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
|
rs755532803
|
|
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=)
|
rs1187804477
|
|
NM_000843.4(GRM6):c.2610C>T (p.Gly870=)
|
rs61731186
|
|
NM_000843.4(GRM6):c.727G>T (p.Val243Phe)
|
rs17078894
|
|
NM_000875.5(IGF1R):c.3595G>A (p.Gly1199Arg)
|
rs886044448
|
|
NM_000875.5(IGF1R):c.885G>T (p.Gly295=)
|
rs56303650
|
|
NM_000883.4(IMPDH1):c.1362C>A (p.Thr454=)
|
rs62481098
|
|
NM_000883.4(IMPDH1):c.1457TCT[1] (p.Phe487del)
|
rs564828105
|
|
NM_000883.4(IMPDH1):c.66_72dup (p.Gln25fs)
|
rs767123748
|
|
NM_000900.5(MGP):c.94+1G>A
|
rs111320759
|
|
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3])
|
rs10654394
|
|
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs)
|
rs762942358
|
|
NM_001004334.4(GPR179):c.4888G>C (p.Glu1630Gln)
|
rs149998444
|
|
NM_001004334.4(GPR179):c.582C>A (p.Thr194=)
|
rs756762102
|
|
NM_001005242.3(PKP2):c.1557-8dup
|
rs200009796
|
|
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter)
|
rs727503943
|
|
NM_001015877.2(PHF6):c.139-11_139-7del
|
rs781657256
|
|
NM_001017995.3(SH3PXD2B):c.1063-7G>T
|
rs186443822
|
|
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT
|
rs797044638
|
|
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=)
|
rs199727236
|
|
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2])
|
rs534091900
|
|
NM_001018113.3(FANCB):c.1105-26TATT[7]
|
rs398123537
|
|
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del)
|
rs774172072
|
|
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del)
|
rs11498192
|
|
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=)
|
rs79625057
|
|
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=)
|
rs181545106
|
|
NM_001029883.3(PCARE):c.2950C>A (p.Arg984=)
|
rs774215025
|
|
NM_001029883.3(PCARE):c.3673_3675dupAGC
|
|
|
NM_001029883.3(PCARE):c.3813C>T (p.His1271=)
|
rs369662857
|
|
NM_001029883.3(PCARE):c.537T>C (p.Pro179=)
|
rs201965800
|
|
NM_001031679.3(MSRB3):c.-118del
|
rs574256598
|
|
NM_001031710.3(KLHL7):c.975del (p.Lys325fs)
|
rs794727909
|
|
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)
|
rs398123695
|
|
NM_001032221.6(STXBP1):c.1548-7_1548-4del
|
rs796053349
|
|
NM_001032221.6(STXBP1):c.87+1G>A
|
rs796053350
|
|
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)
|
rs606231198
|
|
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1])
|
rs782547972
|
|
NM_001032382.2(PQBP1):c.450_453del (p.Asp150fs)
|
rs886044823
|
|
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs)
|
rs751610886
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=)
|
rs114303476
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
NM_001035.3(RYR2):c.3599-9del
|
rs11331089
|
|
NM_001035.3(RYR2):c.385-9A>C
|
rs140998248
|
|
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=)
|
rs114534505
|
|
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg)
|
rs794727676
|
|
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)
|
rs371560909
|
|
NM_001037.5(SCN1B):c.347del (p.Ser116fs)
|
rs794727487
|
|
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp)
|
rs55797039
|
|
NM_001039141.3(TRIOBP):c.1263T>C (p.Asn421=)
|
rs566207993
|
|
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs)
|
rs750744696
|
|
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT
|
rs541980281
|
|
NM_001039141.3(TRIOBP):c.6472+14G>T
|
rs45503898
|
|
NM_001039141.3(TRIOBP):c.6472+15_6472+16insC
|
rs149021782
|
|
NM_001039348.3(EFEMP1):c.*6del
|
rs200536754
|
|
NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp)
|
rs756065296
|
|
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11])
|
rs56192595
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)
|
rs794727444
|
|
NM_001040616.3(LINS1):c.304del (p.Arg102fs)
|
rs760477654
|
|
NM_001042432.2(CLN3):c.537C>G (p.Ala179=)
|
rs147667964
|
|
NM_001042472.3(ABHD12):c.405C>A (p.Asp135Glu)
|
rs147070618
|
|
NM_001042472.3(ABHD12):c.788-10_788-7del
|
rs565270893
|
|
NM_001048166.1(STIL):c.2070A>T (p.Ser690=)
|
rs367887740
|
|
NM_001048166.1(STIL):c.873-6G>T
|
rs375670720
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.633A>G (p.Val211=)
|
rs1557474374
|
|
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)
|
rs371653610
|
|
NM_001077365.2(POMT1):c.123-5dup
|
rs148086540
|
|
NM_001077365.2(POMT1):c.123-6_123-5dup
|
rs148086540
|
|
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)
|
rs757830349
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
NM_001077365.2(POMT1):c.57T>C (p.Leu19=)
|
rs886043325
|
|
NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys)
|
rs377372480
|
|
NM_001077525.3(MTMR14):c.1089C>T (p.Ile363=)
|
rs769182078
|
|
NM_001079802.2(FKTN):c.*4388del
|
rs148253503
|
|
NM_001079802.2(FKTN):c.-45G>T
|
rs77013649
|
|
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=)
|
rs369117043
|
|
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser)
|
rs752358445
|
|
NM_001079802.2(FKTN):c.166-9C>T
|
rs1361772036
|
|
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)
|
rs767865405
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg)
|
rs398123558
|
|
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)
|
rs377417974
|
|
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=)
|
rs777735526
|
|
NM_001079872.2(CUL4B):c.1257-9dup
|
rs746854249
|
|
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)
|
rs779034609
|
|
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs)
|
rs1561879345
|
|
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser)
|
rs62621664
|
|
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs)
|
rs1396400378
|
|
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)
|
rs797046038
|
|
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu)
|
rs1555504721
|
|
NM_001083961.2(WDR62):c.1233+15dup
|
rs373693641
|
|
NM_001083961.2(WDR62):c.156C>G (p.Ser52=)
|
rs398123559
|
|
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=)
|
rs2301734
|
|
NM_001083961.2(WDR62):c.1959-10A>C
|
rs767989054
|
|
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del)
|
rs764610550
|
|
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=)
|
rs115453534
|
|
NM_001083961.2(WDR62):c.2580C>T (p.Pro860=)
|
rs886043531
|
|
NM_001083961.2(WDR62):c.3162G>A (p.Pro1054=)
|
rs200232641
|
|
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del)
|
rs794727435
|
|
NM_001083961.2(WDR62):c.3641C>T (p.Thr1214Ile)
|
rs752898108
|
|
NM_001083962.2(TCF4):c.1774G>A (p.Gly592Ser)
|
rs751190049
|
|
NM_001083962.2(TCF4):c.594G>T (p.Ser198=)
|
rs368553922
|
|
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter)
|
rs727504175
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup)
|
rs750710267
|
|
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser)
|
rs398123563
|
|
NM_001100.4(ACTA1):c.809-18dup
|
rs398123565
|
|
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp)
|
rs1553255362
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
NM_001101426.4(CRPPA):c.184del (p.Val62fs)
|
rs1048457038
|
|
NM_001101426.4(CRPPA):c.261A>G (p.Val87=)
|
rs886044356
|
|
NM_001101426.4(CRPPA):c.360C>T (p.Val120=)
|
rs183141256
|
|
NM_001101426.4(CRPPA):c.685-25GTT[6]
|
rs142647500
|
|
NM_001101426.4(CRPPA):c.836-19dup
|
rs3839757
|
|
NM_001110219.3(GJB6):c.111G>A (p.Val37=)
|
rs543659673
|
|
NM_001110219.3(GJB6):c.689dup (p.Asn230fs)
|
rs398124237
|
|
NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg)
|
rs398123613
|
|
NM_001110556.2(FLNA):c.2826+7A>G
|
rs782545599
|
|
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=)
|
rs201904661
|
|
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)
|
rs137853317
|
|
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=)
|
rs782591917
|
|
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)
|
rs28935470
|
|
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=)
|
rs797044732
|
|
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.564C>G (p.Pro188=)
|
rs61754420
|
|
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001110792.2(MECP2):c.972C>T (p.Val324=)
|
rs398124188
|
|
NM_001112704.2(VAX1):c.375G>C (p.Val125=)
|
rs753533789
|
|
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2])
|
rs565544512
|
|
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7])
|
rs878853632
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8])
|
rs759134767
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9])
|
rs759134767
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])
|
rs759134767
|
|
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser)
|
rs886043758
|
|
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)
|
rs16021
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)
|
rs886044439
|
|
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)
|
rs772989979
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)
|
rs555959123
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476
|
|
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del)
|
rs774721955
|
|
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup)
|
rs1057518615
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
NM_001127464.2(ZNF469):c.7554del (p.Ser2519Alafs)
|
rs886039575
|
|
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser)
|
rs139793542
|
|
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)
|
rs587777308
|
|
NM_001127644.2(GABRA1):c.640C>A (p.Arg214Ser)
|
rs727503940
|
|
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala)
|
rs794727962
|
|
NM_001127644.2(GABRA1):c.857-9del
|
rs3214859
|
|
NM_001127644.2(GABRA1):c.857-9dup
|
rs3214859
|
|
NM_001127649.3(PEX26):c.99G>C (p.Pro33=)
|
rs1284941471
|
|
NM_001127671.2(LIFR):c.143-37GT[11]
|
rs10637374
|
|
NM_001127671.2(LIFR):c.143-37GT[15]
|
rs10637374
|
|
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=)
|
rs3729751
|
|
NM_001128178.3(NPHP1):c.1530-10del
|
rs779032904
|
|
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)
|
rs144850331
|
|
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del)
|
rs777574728
|
|
NM_001128178.3(NPHP1):c.728+9G>A
|
rs1280756117
|
|
NM_001128178.3(NPHP1):c.771+58C>A
|
rs367600757
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001128228.3(TPRN):c.1845AGAGGA[3] (p.Glu620_Glu621dup)
|
rs750560040
|
|
NM_001128228.3(TPRN):c.894G>A (p.Glu298=)
|
rs539737661
|
|
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys)
|
rs769320860
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)
|
rs72758823
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1260del (p.Glu421fs)
|
rs1559079887
|
|
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=)
|
rs140667960
|
|
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)
|
rs34387018
|
|
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal)
|
rs1446214240
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)
|
rs115849497
|
|
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)
|
rs115849497
|
|
NM_001130987.2(DYSF):c.1985-2del
|
rs774047700
|
|
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)
|
rs886042878
|
|
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=)
|
rs560856407
|
|
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)
|
rs727503910
|
|
NM_001130987.2(DYSF):c.2865-7_2865-5del
|
rs761299898
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])
|
rs398123779
|
|
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)
|
rs201319864
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.378G>T (p.Pro126=)
|
rs377056951
|
|
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)
|
rs61742872
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)
|
rs142301132
|
|
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys)
|
rs1553412643
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3])
|
rs749619435
|
|
NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer)
|
rs886043884
|
|
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)
|
rs398123807
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala)
|
rs540014314
|
|
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu)
|
rs77110978
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
|
|
|
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453
|
|
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA
|
rs786200964
|
|
NM_001142301.1(TMEM67):c.2522-6del
|
rs747342409
|
|
NM_001142800.2(EYS):c.334G>A (p.Val112Ile)
|
rs112609906
|
|
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)
|
rs536788112
|
|
NM_001142800.2(EYS):c.9400del (p.Val3134fs)
|
rs886042614
|
|
NM_001145809.2(MYH14):c.192G>T (p.Gly64=)
|
rs181055215
|
|
NM_001145809.2(MYH14):c.660G>T (p.Ser220=)
|
rs201835322
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter)
|
rs886044238
|
|
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)
|
rs1556639109
|
|
NM_001159699.2(FHL1):c.737-3del
|
rs368428875
|
|
NM_001159699.2(FHL1):c.737-9del
|
rs374867802
|
|
NM_001159699.2(FHL1):c.737-9dup
|
rs374867802
|
|
NM_001159773.2(CANT1):c.1026C>T (p.His342=)
|
rs755288092
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del)
|
rs754606765
|
|
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del)
|
rs1484259264
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr)
|
rs547488738
|
|
NM_001164508.2(NEB):c.11077-5del
|
rs749915004
|
|
NM_001164508.2(NEB):c.15237A>G (p.Leu5079=)
|
rs1057522592
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
NM_001164508.2(NEB):c.15445A>T (p.Ser5149Cys)
|
rs1057521769
|
|
NM_001164508.2(NEB):c.17635-3del
|
rs3214503
|
|
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)
|
rs796065338
|
|
NM_001164508.2(NEB):c.20467-4del
|
rs10687343
|
|
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=)
|
rs149510427
|
|
NM_001164508.2(NEB):c.5971-6dup
|
rs551520922
|
|
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)
|
rs794726713
|
|
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile)
|
rs752775574
|
|
NM_001165963.4(SCN1A):c.1092C>A (p.Ser364Arg)
|
rs766332635
|
|
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)
|
rs886042528
|
|
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=)
|
rs201985242
|
|
NM_001165963.4(SCN1A):c.2044-5dup
|
rs549232924
|
|
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro)
|
rs398123592
|
|
NM_001165963.4(SCN1A):c.4339-5G>A
|
rs1057522587
|
|
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)
|
rs121917995
|
|
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser)
|
rs794727415
|
|
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=)
|
rs748747434
|
|
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=)
|
rs1369694963
|
|
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=)
|
rs370106194
|
|
NM_001173990.3(TMEM216):c.*6A>G
|
rs541341560
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)
|
rs532224704
|
|
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn)
|
rs145877051
|
|
NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=)
|
rs368153798
|
|
NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=)
|
rs1467521069
|
|
NM_001184.4(ATR):c.1358_1359del (p.His453fs)
|
rs886044646
|
|
NM_001184.4(ATR):c.4153-21dup
|
rs112116713
|
|
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=)
|
rs794726896
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe)
|
rs189342249
|
|
NM_001193315.2(VIPAS39):c.110G>A (p.Arg37Gln)
|
rs537717904
|
|
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)
|
rs141600901
|
|
NM_001195248.2(APTX):c.484-25_484-10del
|
rs774597262
|
|
NM_001195248.2(APTX):c.484-25_484-3del
|
rs779869639
|
|
NM_001195248.2(APTX):c.484-25_484-5del
|
rs200922655
|
|
NM_001195248.2(APTX):c.484-3del
|
rs373304582
|
|
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)
|
rs555444131
|
|
NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=)
|
rs368563439
|
|
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])
|
rs397516634
|
|
NM_001195553.2(DCX):c.772C>T (p.Arg258Cys)
|
rs727503897
|
|
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln)
|
rs147844226
|
|
NM_001199397.3(NEK1):c.1081-8dup
|
rs398124255
|
|
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)
|
rs763941231
|
|
NM_001206979.2(NR1H4):c.750C>T (p.Thr250=)
|
rs1322754256
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup)
|
rs10594016
|
|
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=)
|
rs73102625
|
|
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
|
rs879253888
|
|
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro)
|
rs138944426
|
|
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys)
|
rs3784587
|
|
NM_001256789.3(CACNA1F):c.2387-19del
|
rs375791434
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del)
|
rs59355923
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup)
|
rs59355923
|
|
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser)
|
rs35212576
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
NM_001267550.2(TTN):c.100766-10dup
|
rs749872538
|
|
NM_001267550.2(TTN):c.100766-11_100766-10del
|
rs749872538
|
|
NM_001267550.2(TTN):c.100980G>A (p.Glu33660=)
|
rs727503536
|
|
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val)
|
rs773542514
|
|
NM_001267550.2(TTN):c.101532A>G (p.Thr33844=)
|
rs776839796
|
|
NM_001267550.2(TTN):c.102885T>C (p.Gly34295=)
|
rs886039175
|
|
NM_001267550.2(TTN):c.103113T>C (p.Asn34371=)
|
rs886042668
|
|
NM_001267550.2(TTN):c.103246T>C (p.Leu34416=)
|
rs1553492053
|
|
NM_001267550.2(TTN):c.103365C>T (p.Arg34455=)
|
rs398124462
|
|
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val)
|
rs761105256
|
|
NM_001267550.2(TTN):c.105428del (p.Gly35143fs)
|
rs886042825
|
|
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter)
|
rs886042795
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs)
|
rs794727544
|
|
NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg)
|
rs1558965303
|
|
NM_001267550.2(TTN):c.107647T>G (p.Ser35883Ala)
|
rs1553477432
|
|
NM_001267550.2(TTN):c.12307T>C (p.Leu4103=)
|
rs587780988
|
|
NM_001267550.2(TTN):c.12517G>T (p.Glu4173Ter)
|
rs1131691288
|
|
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.12813C>T (p.His4271=)
|
rs373302409
|
|
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=)
|
rs375347596
|
|
NM_001267550.2(TTN):c.1398+4C>T
|
rs368548209
|
|
NM_001267550.2(TTN):c.14212C>A (p.Arg4738=)
|
rs1311308523
|
|
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=)
|
rs373875040
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
NM_001267550.2(TTN):c.16964T>C (p.Met5655Thr)
|
rs886044306
|
|
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)
|
rs191057824
|
|
NM_001267550.2(TTN):c.177C>T (p.Ser59=)
|
rs191057824
|
|
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)
|
rs376882041
|
|
NM_001267550.2(TTN):c.2218C>A (p.Arg740Ser)
|
rs566299753
|
|
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del)
|
rs727503701
|
|
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr)
|
rs552951988
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=)
|
rs201766927
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)
|
rs749823104
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA
|
rs1553893826
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[10]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[5]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[7]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[8]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=)
|
rs61232800
|
|
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly)
|
rs200856239
|
|
NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val)
|
rs533172128
|
|
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.30683-17dup
|
rs368277751
|
|
NM_001267550.2(TTN):c.30683-18_30683-9del
|
rs775388232
|
|
NM_001267550.2(TTN):c.30713A>G (p.Lys10238Arg)
|
rs780073797
|
|
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)
|
rs768632287
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
NM_001267550.2(TTN):c.31846+1G>A
|
rs794727043
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.32554+5_32554+6del
|
rs771419718
|
|
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=)
|
rs397517542
|
|
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1])
|
rs766756026
|
|
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del)
|
rs368327166
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
NM_001267550.2(TTN):c.34092A>T (p.Leu11364=)
|
rs765888527
|
|
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=)
|
rs147418835
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
NM_001267550.2(TTN):c.34708+9G>T
|
rs397517551
|
|
NM_001267550.2(TTN):c.35199A>G (p.Val11733=)
|
rs1560255134
|
|
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)
|
rs796478043
|
|
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr)
|
rs72650057
|
|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
|
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1])
|
rs139512154
|
|
NM_001267550.2(TTN):c.40408+3dup
|
rs727504922
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.40537del (p.Glu13513fs)
|
rs1553756349
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
NM_001267550.2(TTN):c.40595T>C (p.Val13532Ala)
|
rs756446770
|
|
NM_001267550.2(TTN):c.40788A>G (p.Glu13596=)
|
rs886042511
|
|
NM_001267550.2(TTN):c.41178C>T (p.Ile13726=)
|
rs1559992784
|
|
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)
|
rs869312043
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser)
|
rs115825044
|
|
NM_001267550.2(TTN):c.43987A>C (p.Lys14663Gln)
|
rs1271800091
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val)
|
rs72677221
|
|
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)
|
rs74580375
|
|
NM_001267550.2(TTN):c.45748A>T (p.Ser15250Cys)
|
rs776190494
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)
|
rs397517588
|
|
NM_001267550.2(TTN):c.46848G>T (p.Thr15616=)
|
rs766610061
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.48330T>C (p.Thr16110=)
|
rs557105262
|
|
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=)
|
rs532589236
|
|
NM_001267550.2(TTN):c.5196A>C (p.Pro1732=)
|
rs142262519
|
|
NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln)
|
rs547986881
|
|
NM_001267550.2(TTN):c.52152C>T (p.Thr17384=)
|
rs1004455055
|
|
NM_001267550.2(TTN):c.52290T>C (p.Tyr17430=)
|
rs990974705
|
|
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)
|
rs886042743
|
|
NM_001267550.2(TTN):c.53185C>T (p.Leu17729=)
|
rs767559716
|
|
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=)
|
rs551538420
|
|
NM_001267550.2(TTN):c.57360T>A (p.Pro19120=)
|
rs778995340
|
|
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)
|
rs530291008
|
|
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)
|
rs200778464
|
|
NM_001267550.2(TTN):c.58205A>G (p.Glu19402Gly)
|
rs886042539
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs)
|
rs794729330
|
|
NM_001267550.2(TTN):c.64683C>G (p.Gly21561=)
|
rs542156552
|
|
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys)
|
rs763729258
|
|
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=)
|
rs187378247
|
|
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=)
|
rs1553619783
|
|
NM_001267550.2(TTN):c.68604C>T (p.Asp22868=)
|
rs750368181
|
|
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=)
|
rs1267766480
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)
|
rs372799151
|
|
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=)
|
rs878983731
|
|
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=)
|
rs770349910
|
|
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)
|
rs587780986
|
|
NM_001267550.2(TTN):c.71832A>C (p.Lys23944Asn)
|
rs1449315408
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
NM_001267550.2(TTN):c.72174T>C (p.Pro24058=)
|
rs886042700
|
|
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys)
|
rs750298083
|
|
NM_001267550.2(TTN):c.74059_74060delinsCA (p.Phe24687His)
|
rs1559409373
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.76383TAA[1] (p.Asn25462del)
|
rs749648136
|
|
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met)
|
rs56372592
|
|
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln)
|
rs368038362
|
|
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)
|
rs572384303
|
|
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn)
|
rs886044012
|
|
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)
|
rs201091376
|
|
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)
|
rs869038795
|
|
NM_001267550.2(TTN):c.8184C>G (p.Val2728=)
|
rs753356474
|
|
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)
|
rs886042331
|
|
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)
|
rs201489661
|
|
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met)
|
rs55933739
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.83526T>G (p.Ala27842=)
|
rs539533062
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
NM_001267550.2(TTN):c.85722C>T (p.Pro28574=)
|
rs763685410
|
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001267550.2(TTN):c.89240C>G (p.Thr29747Ser)
|
rs370568740
|
|
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)
|
rs1553542686
|
|
NM_001267550.2(TTN):c.90594T>C (p.His30198=)
|
rs765307374
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)
|
rs11887722
|
|
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=)
|
rs11897366
|
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
|
NM_001267550.2(TTN):c.91884A>G (p.Arg30628=)
|
rs144922355
|
|
NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter)
|
rs780706937
|
|
NM_001267550.2(TTN):c.92871T>C (p.Ala30957=)
|
rs748822553
|
|
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=)
|
rs758336721
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)
|
rs190282707
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
|
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)
|
rs869320744
|
|
NM_001267550.2(TTN):c.95598C>T (p.Thr31866=)
|
rs1553520323
|
|
NM_001267550.2(TTN):c.95649G>A (p.Val31883=)
|
rs1553520236
|
|
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=)
|
rs878971586
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001267550.2(TTN):c.9714G>A (p.Pro3238=)
|
rs886042397
|
|
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)
|
rs55704830
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)
|
rs375361462
|
|
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=)
|
rs375361462
|
|
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)
|
rs186405108
|
|
NM_001267550.2(TTN):c.98919C>T (p.Ile32973=)
|
rs776133124
|
|
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)
|
rs745708104
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
|
NM_001272071.2(AP1S2):c.252T>C (p.His84=)
|
rs727503807
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_001277115.2(DNAH11):c.11691-20dup
|
rs5882827
|
|
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT
|
rs398123361
|
|
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)
|
rs797044787
|
|
NM_001278182.2(EOMES):c.358_359insGCGCCG (p.Ala119_Ala120insGlyAla)
|
rs1553745484
|
|
NM_001278182.2(EOMES):c.360CGC[8] (p.Ala130dup)
|
rs3062761
|
|
NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs)
|
rs369839371
|
|
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs)
|
rs756807665
|
|
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del)
|
rs3217229
|
|
NM_001291415.2(KDM6A):c.2859-5del
|
rs10605935
|
|
NM_001291415.2(KDM6A):c.2859-6_2859-5del
|
rs10605935
|
|
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup)
|
rs797044622
|
|
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del)
|
rs10590816
|
|
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup)
|
rs398124609
|
|
NM_001291867.2(NHS):c.566-10dup
|
rs5901624
|
|
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)
|
rs753906203
|
|
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met)
|
rs572886375
|
|
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup)
|
rs141566950
|
|
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp)
|
rs200694933
|
|
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His)
|
rs775332304
|
|
NM_001298.3(CNGA3):c.1712T>C (p.Ile571Thr)
|
rs750456621
|
|
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter)
|
rs398124431
|
|
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)
|
rs267606715
|
|
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)
|
rs202124602
|
|
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=)
|
rs201029409
|
|
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val)
|
rs199557987
|
|
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter)
|
rs199546979
|
|
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1])
|
rs758276968
|
|
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val)
|
rs794727128
|
|
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=)
|
rs528718802
|
|
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=)
|
rs555793953
|
|
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr)
|
rs2032582
|
|
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala)
|
rs2032582
|
|
NM_001349338.3(FOXP1):c.1146+10_1146+12del
|
rs199543140
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
NM_001351132.2(PEX5):c.135G>C (p.Pro45=)
|
rs761885230
|
|
NM_001351132.2(PEX5):c.449-2A>G
|
rs1555176945
|
|
NM_001351132.2(PEX5):c.48G>A (p.Pro16=)
|
rs147958315
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
|
|
|
NM_001354604.2(MITF):c.639C>T (p.Asn213=)
|
rs137944487
|
|
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)
|
rs760242
|
|
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)
|
rs201270451
|
|
NM_001360.3(DHCR7):c.385_412+5del
|
rs746482788
|
|
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)
|
rs146867923
|
|
NM_001360.3(DHCR7):c.902A>G (p.His301Arg)
|
rs1565586067
|
|
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)
|
rs80338858
|
|
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)
|
rs367585401
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
NM_001360016.2(G6PD):c.1311= (p.Tyr437=)
|
rs2230037
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=)
|
rs150689413
|
|
NM_001365276.2(TNXB):c.1259T>C (p.Val420Ala)
|
rs200226242
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
NM_001365536.1(SCN9A):c.1975-3del
|
rs35888674
|
|
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter)
|
rs886042662
|
|
NM_001365951.3(KIF1B):c.430-9del
|
rs771477893
|
|
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser)
|
rs56236932
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)
|
rs886044697
|
|
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
|
rs886043704
|
|
NM_001367721.1(CASK):c.1215A>G (p.Ala405=)
|
rs1555989329
|
|
NM_001367721.1(CASK):c.1224A>G (p.Arg408=)
|
rs1555989321
|
|
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg)
|
rs727503840
|
|
NM_001367721.1(CASK):c.891A>G (p.Lys297=)
|
rs544979992
|
|
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp)
|
rs140854076
|
|
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=)
|
rs41303149
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys)
|
rs727504064
|
|
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)
|
rs886044289
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
NM_001369268.1(ACAN):c.280_336del (p.Val94_Ile112del)
|
rs1596130811
|
|
NM_001369268.1(ACAN):c.7512T>G (p.Tyr2504Ter)
|
rs1567195445
|
|
NM_001370259.2(MEN1):c.655-6C>T
|
rs77461664
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001371596.2(MFSD8):c.1351-9C>A
|
rs75039907
|
|
NM_001371596.2(MFSD8):c.63-4del
|
rs755011754
|
|
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del)
|
rs528897827
|
|
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs)
|
rs886043644
|
|
NM_001372044.2(SHANK3):c.1530-280dup
|
rs745950788
|
|
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=)
|
rs141988240
|
|
NM_001374385.1(ATP8B1):c.182-5dup
|
rs34583775
|
|
NM_001374385.1(ATP8B1):c.2209+10T>C
|
rs1555689635
|
|
NM_001374385.1(ATP8B1):c.306C>T (p.Tyr102=)
|
rs1555693515
|
|
NM_001374385.1(ATP8B1):c.3636G>A (p.Ser1212=)
|
rs748084795
|
|
NM_001374385.1(ATP8B1):c.921C>T (p.His307=)
|
rs747429748
|
|
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)
|
rs794727634
|
|
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)
|
rs713993043
|
|
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys)
|
rs1555410941
|
|
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)
|
rs386789728
|
|
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe)
|
rs886042136
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=)
|
rs138058889
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val)
|
rs375736124
|
|
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val)
|
rs1020163869
|
|
NM_001378454.1(ALMS1):c.6960G>A (p.Gln2320=)
|
rs794727925
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA
|
rs1560177950
|
|
NM_001378615.1(CC2D2A):c.2922+10dup
|
rs752271495
|
|
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=)
|
rs386833750
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=)
|
rs774919996
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter)
|
rs373880888
|
|
NM_001379110.1(SLC9A6):c.*5_*8delinsTT
|
rs797044655
|
|
NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter)
|
rs1560616550
|
|
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=)
|
rs1554940478
|
|
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=)
|
rs1565043296
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=)
|
rs774857947
|
|
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup)
|
rs776051221
|
|
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)
|
rs561144747
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg)
|
rs7244681
|
|
NM_001384474.1(LOXHD1):c.5712C>T (p.Asn1904=)
|
rs746023380
|
|
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser)
|
rs539278802
|
|
NM_001384732.1(CPLANE1):c.1372-2A>G
|
rs886043786
|
|
NM_001384732.1(CPLANE1):c.8633-3del
|
rs34646696
|
|
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe)
|
rs794727777
|
|
NM_001385.3(DPYS):c.1506del (p.Arg503fs)
|
rs79080341
|
|
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser)
|
rs772602972
|
|
NM_001429.4(EP300):c.3143-4dup
|
rs757931697
|
|
NM_001429.4(EP300):c.3354C>T (p.Val1118=)
|
rs11704815
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del)
|
rs747574884
|
|
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)
|
rs756196843
|
|
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys)
|
rs139875974
|
|
NM_001457.4(FLNB):c.3163G>T (p.Val1055Leu)
|
rs9813235
|
|
NM_001457.4(FLNB):c.4515-24GT[4]
|
rs151085835
|
|
NM_001457.4(FLNB):c.5967C>T (p.Pro1989=)
|
rs374686904
|
|
NM_001457.4(FLNB):c.6367+7G>C
|
rs201871482
|
|
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)
|
rs369853278
|
|
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg)
|
rs193159707
|
|
NM_001497.4(B4GALT1):c.412+44dup
|
rs111399879
|
|
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val)
|
rs797044730
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_001701.4(BAAT):c.602G>A (p.Arg201His)
|
rs41281027
|
|
NM_001701.4(BAAT):c.9G>A (p.Gln3=)
|
rs149369902
|
|
NM_001723.7(DST):c.22del (p.Tyr8fs)
|
rs775912185
|
|
NM_001793.6(CDH3):c.2430C>T (p.Asn810=)
|
rs774229703
|
|
NM_001844.5(COL2A1):c.1077C>T (p.Val359=)
|
rs202002349
|
|
NM_001844.5(COL2A1):c.1266+5G>A
|
rs1064794958
|
|
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp)
|
rs886043561
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp)
|
rs1555166528
|
|
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)
|
rs41272029
|
|
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=)
|
rs746453469
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg)
|
rs546672421
|
|
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg)
|
rs763352763
|
|
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)
|
rs1565664095
|
|
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu)
|
rs766480693
|
|
NM_001844.5(COL2A1):c.870+5G>A
|
rs794727095
|
|
NM_001848.3(COL6A1):c.1002+50C>A
|
rs11702079
|
|
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)
|
rs794727121
|
|
NM_001848.3(COL6A1):c.1120-12G>A
|
rs115107397
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)
|
rs1085307560
|
|
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=)
|
rs112104768
|
|
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=)
|
rs138976133
|
|
NM_001848.3(COL6A1):c.2435-2A>G
|
rs940473416
|
|
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)
|
rs144671871
|
|
NM_001848.3(COL6A1):c.428+39C>G
|
rs148766287
|
|
NM_001848.3(COL6A1):c.588+19dup
|
rs111710378
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.814G>A (p.Gly272Ser)
|
rs398123640
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.904-2A>G
|
rs1057519174
|
|
NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg)
|
rs794727028
|
|
NM_001848.3(COL6A1):c.930+1G>A
|
rs886042902
|
|
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)
|
rs886044231
|
|
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)
|
rs794727059
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
NM_001849.4(COL6A2):c.1117-9C>T
|
rs1057523383
|
|
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)
|
rs61735827
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
NM_001849.4(COL6A2):c.1458+1G>A
|
rs886044526
|
|
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)
|
rs773686174
|
|
NM_001849.4(COL6A2):c.1572+3G>A
|
rs372414400
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1])
|
rs773493556
|
|
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr)
|
rs886043225
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
NM_001849.4(COL6A2):c.1816+18del
|
rs150275851
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
NM_001849.4(COL6A2):c.2422+7G>A
|
rs773282809
|
|
NM_001849.4(COL6A2):c.2422+7G>T
|
rs773282809
|
|
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs)
|
rs1555877258
|
|
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn)
|
rs141021828
|
|
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del)
|
rs746930351
|
|
NM_001849.4(COL6A2):c.2748C>A (p.His916Gln)
|
rs372206114
|
|
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=)
|
rs548194162
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln)
|
rs886044576
|
|
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)
|
rs397515333
|
|
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)
|
rs886044088
|
|
NM_001851.6(COL9A1):c.1342-11_1342-3del
|
rs774856588
|
|
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=)
|
rs557157592
|
|
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu)
|
rs146700420
|
|
NM_001853.4(COL9A3):c.685-4G>T
|
rs57739618
|
|
NM_001853.4(COL9A3):c.93CGGCCCCCC[1] (p.33PPG[2])
|
rs544133282
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[13]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[9]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=)
|
rs368868551
|
|
NM_001854.4(COL11A1):c.4554+1G>C
|
rs886044244
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
|
rs386654705
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro)
|
rs398123653
|
|
NM_001918.5(DBT):c.1210-10del
|
rs398123658
|
|
NM_001918.5(DBT):c.1210-10dup
|
rs398123658
|
|
NM_001918.5(DBT):c.251+19dup
|
rs201469612
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
|
rs267607485
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
NM_001927.4(DES):c.1358C>T (p.Thr453Ile)
|
rs267607488
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
NM_001927.4(DES):c.210G>C (p.Arg70=)
|
rs761255472
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001927.4(DES):c.735G>A (p.Glu245=)
|
rs267607486
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001966.4(EHHADH):c.411G>A (p.Gln137=)
|
rs148984368
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002025.4(AFF2):c.2181C>T (p.Thr727=)
|
rs143927826
|
|
NM_002047.4(GARS1):c.1614-4G>C
|
rs376324026
|
|
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)
|
rs1554337974
|
|
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser)
|
rs1231842600
|
|
NM_002098.6(GUCA1B):c.297G>A (p.Lys99=)
|
rs794727264
|
|
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser)
|
rs886043368
|
|
NM_002181.4(IHH):c.949G>A (p.Val317Met)
|
rs886044074
|
|
NM_002206.3(ITGA7):c.1410-3del
|
rs773251917
|
|
NM_002206.3(ITGA7):c.2295C>T (p.Ile765=)
|
rs181711509
|
|
NM_002206.3(ITGA7):c.671-5C>A
|
rs180841797
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
NM_002225.5(IVD):c.863C>T (p.Ala288Val)
|
rs886042098
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
NM_002234.4(KCNA5):c.859_860delinsTT (p.Ala287Leu)
|
rs1565465582
|
|
NM_002242.4(KCNJ13):c.558T>C (p.Asn186=)
|
rs886043769
|
|
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn)
|
rs1805094
|
|
NM_002335.4(LRP5):c.-19del
|
rs763941232
|
|
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup)
|
rs72555376
|
|
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.34CTG[7] (p.Leu19_Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.3552C>A (p.Thr1184=)
|
rs764663599
|
|
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)
|
rs72610640
|
|
NM_002381.5(MATN3):c.132C>T (p.Pro44=)
|
rs886043710
|
|
NM_002381.5(MATN3):c.90C>G (p.Pro30=)
|
rs996766896
|
|
NM_002427.4(MMP13):c.287_293del (p.Cys96fs)
|
rs886042854
|
|
NM_002427.4(MMP13):c.772dup (p.Asp258fs)
|
rs797044754
|
|
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)
|
rs147334255
|
|
NM_002435.3(MPI):c.678C>A (p.Ala226=)
|
rs199972529
|
|
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del)
|
rs267607264
|
|
NM_002437.5(MPV17):c.275A>C (p.Asp92Ala)
|
rs1057524366
|
|
NM_002437.5(MPV17):c.279+9_279+11del
|
rs751559319
|
|
NM_002437.5(MPV17):c.450C>T (p.Pro150=)
|
rs1244633595
|
|
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu)
|
rs61742472
|
|
NM_002471.4(MYH6):c.3979-8C>T
|
rs555976716
|
|
NM_002472.3(MYH8):c.3254+1G>T
|
rs372740784
|
|
NM_002473.6(MYH9):c.5275-10del
|
rs552643559
|
|
NM_002474.3(MYH11):c.3651+5T>G
|
rs794727439
|
|
NM_002474.3(MYH11):c.5787-4733CT[3]
|
rs747642850
|
|
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=)
|
rs149529195
|
|
NM_002485.5(NBN):c.1846-11_1846-7del
|
rs1060504925
|
|
NM_002547.3(OPHN1):c.360G>A (p.Arg120=)
|
rs727504062
|
|
NM_002617.4(PEX10):c.333C>T (p.Leu111=)
|
rs781710848
|
|
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)
|
rs761080016
|
|
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del)
|
rs780010436
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.155_166del (p.Gln52_Gln55del)
|
rs761909257
|
|
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)
|
rs769735492
|
|
NM_002693.3(POLG):c.159A>G (p.Gln53=)
|
rs587781118
|
|
NM_002693.3(POLG):c.160C>T (p.Gln54Ter)
|
rs774768199
|
|
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)
|
rs371334941
|
|
NM_002693.3(POLG):c.1905G>A (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.1905G>T (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.1950-10C>T
|
rs749522324
|
|
NM_002693.3(POLG):c.237C>G (p.Leu79=)
|
rs774537232
|
|
NM_002693.3(POLG):c.2481-10A>C
|
rs555280530
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002693.3(POLG):c.2994G>C (p.Ser998=)
|
rs567030498
|
|
NM_002693.3(POLG):c.2994G>T (p.Ser998=)
|
rs567030498
|
|
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)
|
rs201732356
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_002693.3(POLG):c.3700C>A (p.Arg1234=)
|
rs144346886
|
|
NM_002693.3(POLG):c.522C>G (p.Gly174=)
|
rs766842881
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002693.3(POLG):c.856-17CTC[4]
|
rs200056162
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002693.3(POLG):c.975C>A (p.Pro325=)
|
rs551973680
|
|
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly)
|
rs727503996
|
|
NM_002755.4(MAP2K1):c.694-12TC[4]
|
rs113913469
|
|
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln)
|
rs397507534
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys)
|
rs397507507
|
|
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu)
|
rs1555267558
|
|
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)
|
rs121918454
|
|
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser)
|
rs144256391
|
|
NM_002857.4(PEX19):c.162G>A (p.Ser54=)
|
rs540593146
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
NM_002900.3(RBP3):c.1641G>A (p.Thr547=)
|
rs534717081
|
|
NM_002900.3(RBP3):c.816C>A (p.Gly272=)
|
rs148432607
|
|
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer)
|
rs113614842
|
|
NM_002968.3(SALL1):c.1911G>A (p.Ala637=)
|
rs148595195
|
|
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)
|
rs113614842
|
|
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly)
|
rs1555475415
|
|
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup)
|
rs1555475414
|
|
NM_003019.5(SFTPD):c.199+9G>A
|
rs6413522
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1890C>T (p.Ala630=)
|
rs773151547
|
|
NM_003049.4(SLC10A1):c.34_38del (p.Phe12fs)
|
rs747530550
|
|
NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser)
|
rs141269120
|
|
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro)
|
rs1561560424
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
NM_003193.5(TBCE):c.660+9_660+10del
|
rs569925016
|
|
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)
|
rs863223792
|
|
NM_003242.6(TGFBR2):c.1254+8A>G
|
rs200630803
|
|
NM_003289.4(TPM2):c.300C>T (p.Asp100=)
|
rs532190742
|
|
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)
|
rs104894129
|
|
NM_003289.4(TPM2):c.493-11_493-8del
|
rs528068364
|
|
NM_003289.4(TPM2):c.773-3del
|
rs35401252
|
|
NM_003289.4(TPM2):c.773-3dup
|
rs35401252
|
|
NM_003289.4(TPM2):c.81C>T (p.Ala27=)
|
rs564977715
|
|
NM_003322.6(TULP1):c.371_394del (p.Asp124_Glu131del)
|
rs281865169
|
|
NM_003322.6(TULP1):c.846G>A (p.Pro282=)
|
rs149980694
|
|
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp)
|
rs794726991
|
|
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=)
|
rs141800038
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
NM_003392.7(WNT5A):c.141-8C>T
|
rs188798140
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
NM_003477.3(PDHX):c.160+9C>T
|
rs886042781
|
|
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup)
|
rs398123707
|
|
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter)
|
rs398123708
|
|
NM_003482.4(KMT2D):c.11702AGC[6] (p.Gln3905dup)
|
rs944680171
|
|
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup)
|
rs576788910
|
|
NM_003482.4(KMT2D):c.11864_11893del (p.Leu3955_Gln3964del)
|
rs886042299
|
|
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs)
|
rs398123716
|
|
NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=)
|
rs727503981
|
|
NM_003482.4(KMT2D):c.13671+10dup
|
rs147210845
|
|
NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=)
|
rs727503980
|
|
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)
|
rs398123724
|
|
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln)
|
rs886043497
|
|
NM_003482.4(KMT2D):c.15559G>C (p.Ala5187Pro)
|
rs775954885
|
|
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)
|
rs200088180
|
|
NM_003482.4(KMT2D):c.2088_2114del (p.Thr698_Pro706del)
|
rs780334086
|
|
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1])
|
rs398123736
|
|
NM_003482.4(KMT2D):c.2264G>A (p.Arg755Gln)
|
rs776110112
|
|
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del)
|
rs375538882
|
|
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=)
|
rs186151848
|
|
NM_003482.4(KMT2D):c.2798-7del
|
rs112620957
|
|
NM_003482.4(KMT2D):c.2860T>C (p.Leu954=)
|
rs398123740
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr)
|
rs587783718
|
|
NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=)
|
rs727503985
|
|
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro)
|
rs373234419
|
|
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser)
|
rs398123761
|
|
NM_003494.4(DYSF):c.4C>T (p.Leu2=)
|
rs772536111
|
|
NM_003611.3(OFD1):c.2052C>G (p.Ser684=)
|
rs61742891
|
|
NM_003659.4(AGPS):c.638-7T>C
|
rs886044553
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
NM_003722.5(TP63):c.192-9_192-8del
|
rs794727498
|
|
NM_003722.5(TP63):c.435G>C (p.Ala145=)
|
rs546908184
|
|
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del)
|
rs1553468235
|
|
NM_003742.4(ABCB11):c.1404T>A (p.Ile468=)
|
rs34200464
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn)
|
rs1558897179
|
|
NM_003742.4(ABCB11):c.1608T>C (p.Asn536=)
|
rs1227759001
|
|
NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr)
|
rs753994013
|
|
NM_003742.4(ABCB11):c.1857G>T (p.Thr619=)
|
rs760948323
|
|
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)
|
rs200087122
|
|
NM_003742.4(ABCB11):c.236T>A (p.Val79Glu)
|
rs886044603
|
|
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)
|
rs376255350
|
|
NM_003742.4(ABCB11):c.2700G>A (p.Leu900=)
|
rs371263629
|
|
NM_003742.4(ABCB11):c.390-1G>T
|
rs1558917090
|
|
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys)
|
rs1026511416
|
|
NM_003742.4(ABCB11):c.477+8G>T
|
rs745477056
|
|
NM_003742.4(ABCB11):c.585G>C (p.Val195=)
|
rs11568365
|
|
NM_003742.4(ABCB11):c.77-16dup
|
rs746419453
|
|
NM_003742.4(ABCB11):c.77-8del
|
rs746419453
|
|
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)
|
rs2287617
|
|
NM_003816.3(ADAM9):c.1882-5_1882-4dup
|
rs747974915
|
|
NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly)
|
rs797044755
|
|
NM_003846.3(PEX11B):c.238G>A (p.Val80Ile)
|
rs587764801
|
|
NM_003865.3(HESX1):c.511_512del (p.Gln171fs)
|
rs752434998
|
|
NM_003919.3(SGCE):c.436T>A (p.Leu146Met)
|
rs752074255
|
|
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)
|
rs775006915
|
|
NM_004004.6(GJB2):c.187G>A (p.Val63Met)
|
rs370696868
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004006.3(DMD):c.-29dup
|
rs398123823
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
NM_004006.3(DMD):c.10504del (p.Glu3502fs)
|
rs1556024147
|
|
NM_004006.3(DMD):c.1128dup (p.Asp377fs)
|
rs886044624
|
|
NM_004006.3(DMD):c.1311T>G (p.Ala437=)
|
rs398123855
|
|
NM_004006.3(DMD):c.1602+1G>T
|
rs1057517960
|
|
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)
|
rs145739725
|
|
NM_004006.3(DMD):c.1869C>G (p.Leu623=)
|
rs1800267
|
|
NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr)
|
rs398123879
|
|
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser)
|
rs552275776
|
|
NM_004006.3(DMD):c.2603del (p.Ser868fs)
|
rs886042348
|
|
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala)
|
rs370171367
|
|
NM_004006.3(DMD):c.31+134AT[6]
|
rs764891575
|
|
NM_004006.3(DMD):c.31+36947G>A
|
rs886042106
|
|
NM_004006.3(DMD):c.3276+2del
|
rs1557369964
|
|
NM_004006.3(DMD):c.3432+3A>G
|
rs398123938
|
|
NM_004006.3(DMD):c.3603+3dup
|
rs5902031
|
|
NM_004006.3(DMD):c.3639dup (p.Val1214fs)
|
rs398123943
|
|
NM_004006.3(DMD):c.3649C>G (p.Leu1217Val)
|
rs886042839
|
|
NM_004006.3(DMD):c.3696A>C (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.3747del (p.Trp1249fs)
|
rs398123945
|
|
NM_004006.3(DMD):c.445C>A (p.Arg149Ser)
|
rs774139970
|
|
NM_004006.3(DMD):c.468A>C (p.Val156=)
|
rs886044031
|
|
NM_004006.3(DMD):c.4941G>A (p.Thr1647=)
|
rs750090479
|
|
NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter)
|
rs886042347
|
|
NM_004006.3(DMD):c.5326-11dup
|
rs398123988
|
|
NM_004006.3(DMD):c.5358T>C (p.Phe1786=)
|
rs886042125
|
|
NM_004006.3(DMD):c.5481G>A (p.Leu1827=)
|
rs794727612
|
|
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)
|
rs863225003
|
|
NM_004006.3(DMD):c.579A>T (p.Thr193=)
|
rs766344083
|
|
NM_004006.3(DMD):c.5933G>A (p.Arg1978His)
|
rs148135406
|
|
NM_004006.3(DMD):c.649+5G>T
|
rs1557047808
|
|
NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn)
|
rs202090289
|
|
NM_004006.3(DMD):c.7653G>A (p.Thr2551=)
|
rs368803197
|
|
NM_004006.3(DMD):c.8172C>T (p.Leu2724=)
|
rs886044500
|
|
NM_004006.3(DMD):c.8322G>T (p.Leu2774=)
|
rs72466575
|
|
NM_004006.3(DMD):c.8757C>T (p.Asn2919=)
|
rs753234741
|
|
NM_004006.3(DMD):c.923C>T (p.Thr308Ile)
|
rs145064612
|
|
NM_004006.3(DMD):c.93+5590T>A
|
rs1557211730
|
|
NM_004006.3(DMD):c.94-9dup
|
rs3834997
|
|
NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del)
|
rs756693906
|
|
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)
|
rs281865238
|
|
NM_004183.4(BEST1):c.715-18TCC[8]
|
rs1805182
|
|
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)
|
rs727503824
|
|
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)
|
rs35353912
|
|
NM_004187.5(KDM5C):c.2517-9_2517-7dup
|
rs398124111
|
|
NM_004187.5(KDM5C):c.4338C>T (p.His1446=)
|
rs797044695
|
|
NM_004239.4(TRIP11):c.4892+10del
|
rs794727098
|
|
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)
|
rs34642881
|
|
NM_004260.4(RECQL4):c.213+6del
|
rs535285068
|
|
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4])
|
rs548804317
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=)
|
rs56341125
|
|
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)
|
rs35434411
|
|
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)
|
rs139438727
|
|
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)
|
rs12944167
|
|
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del)
|
rs138827116
|
|
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln)
|
rs3832799
|
|
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala)
|
rs749792302
|
|
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)
|
rs180177038
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.2128-5del
|
rs373442098
|
|
NM_004333.6(BRAF):c.2128-5dup
|
rs373442098
|
|
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])
|
rs397507458
|
|
NM_004333.6(BRAF):c.918C>G (p.Ser306=)
|
rs794727865
|
|
NM_004341.5(CAD):c.1536C>T (p.Thr512=)
|
rs368889621
|
|
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn)
|
rs35914491
|
|
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)
|
rs77181645
|
|
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=)
|
rs148561729
|
|
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=)
|
rs727503885
|
|
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)
|
rs114498197
|
|
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=)
|
rs144223596
|
|
NM_004369.4(COL6A3):c.5148C>T (p.His1716=)
|
rs114845780
|
|
NM_004369.4(COL6A3):c.576G>T (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)
|
rs1553553646
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
|
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter)
|
rs886043992
|
|
NM_004380.3(CREBBP):c.1331-12_1331-9del
|
rs765955245
|
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
|
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del)
|
rs755265819
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.4729-14G>A
|
rs130008
|
|
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del)
|
rs750150018
|
|
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del)
|
rs727503890
|
|
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1])
|
rs778220523
|
|
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)
|
rs146887252
|
|
NM_004380.3(CREBBP):c.753T>G (p.Thr251=)
|
rs142403441
|
|
NM_004385.5(VCAN):c.1458G>T (p.Ser486=)
|
rs150735474
|
|
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)
|
rs160278
|
|
NM_004385.5(VCAN):c.927T>C (p.Thr309=)
|
rs536465380
|
|
NM_004415.4(DSP):c.4009del (p.Glu1337fs)
|
rs794727381
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
NM_004463.3(FGD1):c.1556G>A (p.Arg519His)
|
rs398124157
|
|
NM_004463.3(FGD1):c.1564C>T (p.Arg522Cys)
|
rs398124159
|
|
NM_004473.4(FOXE1):c.505GCC[9] (p.Ala178_Ala179del)
|
rs71369530
|
|
NM_004484.4(GPC3):c.338-6_338-5del
|
rs370737647
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004525.3(LRP2):c.13139del (p.Pro4380fs)
|
rs80338754
|
|
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)
|
rs41277835
|
|
NM_004560.4(ROR2):c.298G>A (p.Ala100Thr)
|
rs374692105
|
|
NM_004565.3(PEX14):c.299-8G>A
|
rs112851814
|
|
NM_004565.3(PEX14):c.48T>C (p.Thr16=)
|
rs779545665
|
|
NM_004568.6(SERPINB6):c.441G>A (p.Ala147=)
|
rs201913568
|
|
NM_004586.3(RPS6KA3):c.594-10dup
|
rs755566588
|
|
NM_004606.5(TAF1):c.5499GGA[2] (p.Glu1837del)
|
rs779870273
|
|
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del)
|
rs11466445
|
|
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=)
|
rs145077205
|
|
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser)
|
rs387907231
|
|
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=)
|
rs138092189
|
|
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)
|
rs34982899
|
|
NM_004715.5(CTDP1):c.2307C>T (p.Pro769=)
|
rs1403055370
|
|
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)
|
rs727504461
|
|
NM_004817.4(TJP2):c.1520+6T>C
|
rs886044597
|
|
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter)
|
rs746830415
|
|
NM_004817.4(TJP2):c.258C>T (p.Val86=)
|
rs530810462
|
|
NM_004817.4(TJP2):c.3408-6del
|
rs778863371
|
|
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg)
|
rs141496493
|
|
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3])
|
rs760152519
|
|
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs)
|
rs776075679
|
|
NM_004820.5(CYP7B1):c.260-15dup
|
rs8192896
|
|
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=)
|
rs1045912447
|
|
NM_004839.4(HOMER2):c.763-8del
|
rs567936162
|
|
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=)
|
rs143319002
|
|
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg)
|
rs113247976
|
|
NM_004985.5(KRAS):c.291-10del
|
rs727503991
|
|
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)
|
rs121913527
|
|
NM_004998.4(MYO1E):c.333-12_333-9del
|
rs200881397
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
NM_005045.4(RELN):c.-24GGC[11] (p.Met1_Glu2insGlyGlyGly)
|
rs55656324
|
|
NM_005045.4(RELN):c.-24GGC[4]
|
rs55656324
|
|
NM_005045.4(RELN):c.1290-3dup
|
rs146986040
|
|
NM_005045.4(RELN):c.1734G>A (p.Leu578=)
|
rs727504126
|
|
NM_005045.4(RELN):c.5211-7dup
|
rs34125550
|
|
NM_005045.4(RELN):c.5211-9_5211-7del
|
rs34125550
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)
|
rs375218091
|
|
NM_005097.4(LGI1):c.297A>G (p.Thr99=)
|
rs777027658
|
|
NM_005104.4(BRD2):c.1497GGA[1] (p.Glu500del)
|
rs3918142
|
|
NM_005120.3(MED12):c.3844G>A (p.Val1282Met)
|
rs398124197
|
|
NM_005120.3(MED12):c.4416-77CTCTT[13]
|
rs56658066
|
|
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)
|
rs786200971
|
|
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)
|
rs727503869
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
NM_005188.4(CBL):c.2190G>A (p.Thr730=)
|
rs143840974
|
|
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)
|
rs189809247
|
|
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del)
|
rs3075570
|
|
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=)
|
rs570981209
|
|
NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup)
|
rs761703699
|
|
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup)
|
rs398124201
|
|
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del)
|
rs794726920
|
|
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)
|
rs786200975
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg)
|
rs370617353
|
|
NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup)
|
rs555285206
|
|
NM_005422.4(TECTA):c.336T>C (p.Tyr112=)
|
rs886043412
|
|
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)
|
rs148619105
|
|
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His)
|
rs121909062
|
|
NM_005422.4(TECTA):c.6402G>T (p.Thr2134=)
|
rs141203939
|
|
NM_005445.4(SMC3):c.548-5_548-4dup
|
rs199906378
|
|
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg)
|
rs113099187
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)
|
rs886042195
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg)
|
rs794727637
|
|
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe)
|
rs775803239
|
|
NM_005477.3(HCN4):c.321C>T (p.Gly107=)
|
rs1555479019
|
|
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln)
|
rs78944354
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)
|
rs150129885
|
|
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln)
|
rs529205824
|
|
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)
|
rs147114700
|
|
NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg)
|
rs776736207
|
|
NM_005559.4(LAMA1):c.505C>T (p.Arg169Ter)
|
rs752872595
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)
|
rs397517150
|
|
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170
|
|
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del)
|
rs776775669
|
|
NM_005634.3(SOX3):c.732delinsCGCC (p.Ala248dup)
|
rs794726924
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
NM_005708.5(GPC6):c.1152+9T>A
|
rs794727797
|
|
NM_005802.5(TOPORS):c.1953C>T (p.Ser651=)
|
rs727504178
|
|
NM_005802.5(TOPORS):c.2018G>T (p.Arg673Leu)
|
rs147497536
|
|
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp)
|
rs61758066
|
|
NM_005857.5(ZMPSTE24):c.951_954+2del
|
rs747563189
|
|
NM_005881.4(BCKDK):c.*9C>A
|
rs199965337
|
|
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)
|
rs794727798
|
|
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)
|
rs1555691402
|
|
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu)
|
rs886043349
|
|
NM_006005.3(WFS1):c.114C>T (p.Ser38=)
|
rs531593902
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)
|
rs111773340
|
|
NM_006005.3(WFS1):c.1725C>T (p.Ala575=)
|
rs2230719
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val)
|
rs1805070
|
|
NM_006005.3(WFS1):c.2370G>A (p.Ser790=)
|
rs150936382
|
|
NM_006005.3(WFS1):c.2370G>C (p.Ser790=)
|
rs150936382
|
|
NM_006005.3(WFS1):c.2385G>A (p.Glu795=)
|
rs373310972
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
NM_006005.3(WFS1):c.937C>T (p.His313Tyr)
|
rs886044563
|
|
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)
|
rs749970078
|
|
NM_006017.3(PROM1):c.1234del (p.Tyr412fs)
|
rs1460604134
|
|
NM_006017.3(PROM1):c.2374-5dup
|
rs34269395
|
|
NM_006017.3(PROM1):c.879C>T (p.Ser293=)
|
rs148242593
|
|
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=)
|
rs534950651
|
|
NM_006019.4(TCIRG1):c.1755G>T (p.Val585=)
|
rs1554999033
|
|
NM_006019.4(TCIRG1):c.1836C>T (p.Asn612=)
|
rs886042823
|
|
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe)
|
rs572444748
|
|
NM_006031.6(PCNT):c.24G>C (p.Arg8=)
|
rs375279759
|
|
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=)
|
rs201652457
|
|
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)
|
rs35513449
|
|
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup)
|
rs886042352
|
|
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile)
|
rs113342730
|
|
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=)
|
rs151138182
|
|
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=)
|
rs572321857
|
|
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)
|
rs151325202
|
|
NM_006059.4(LAMC3):c.1939G>C (p.Gly647Arg)
|
rs144242690
|
|
NM_006059.4(LAMC3):c.2438_2439delinsAG (p.Ser813Lys)
|
rs386738959
|
|
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln)
|
rs146221263
|
|
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys)
|
rs140955110
|
|
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser)
|
rs147092908
|
|
NM_006059.4(LAMC3):c.521_522delinsAG (p.Pro174Gln)
|
rs386738954
|
|
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro)
|
rs1064793154
|
|
NM_006208.3(ENPP1):c.27C>G (p.Gly9=)
|
rs794726927
|
|
NM_006208.3(ENPP1):c.313+9del
|
rs377330284
|
|
NM_006214.4(PHYH):c.415-11dup
|
rs140309981
|
|
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala)
|
rs2233783
|
|
NM_006261.5(PROP1):c.592T>C (p.Leu198=)
|
rs780774091
|
|
NM_006261.5(PROP1):c.636T>C (p.Pro212=)
|
rs759632048
|
|
NM_006269.2(RP1):c.2700dup (p.Pro901fs)
|
rs797044735
|
|
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr)
|
rs61739567
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006343.3(MERTK):c.1137T>G (p.Thr379=)
|
rs1558793454
|
|
NM_006343.3(MERTK):c.1961-4dup
|
rs772574056
|
|
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)
|
rs141361084
|
|
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu)
|
rs35252762
|
|
NM_006420.3(ARFGEF2):c.3624C>G (p.Ala1208=)
|
rs372376922
|
|
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=)
|
rs794727562
|
|
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=)
|
rs758937794
|
|
NM_006486.3(FBLN1):c.279G>T (p.Thr93=)
|
rs765918593
|
|
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)
|
rs794727507
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg)
|
rs1345986424
|
|
NM_006516.4(SLC2A1):c.679+4C>T
|
rs139492241
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006517.5(SLC16A2):c.-114GGCAGC[2]
|
rs760787234
|
|
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])
|
rs757881983
|
|
NM_006517.5(SLC16A2):c.576-1G>A
|
rs886042238
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
NM_006565.4(CTCF):c.1130G>A (p.Arg377His)
|
rs968244943
|
|
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys)
|
rs115098969
|
|
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)
|
rs143407309
|
|
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=)
|
rs1276291921
|
|
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=)
|
rs886044120
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])
|
rs548231613
|
|
NM_006790.3(MYOT):c.1275A>G (p.Ala425=)
|
rs140678912
|
|
NM_006790.3(MYOT):c.1401T>C (p.Asn467=)
|
rs145427063
|
|
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr)
|
rs114194130
|
|
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1])
|
rs554634510
|
|
NM_006859.4(LIAS):c.-1A>G
|
rs139360916
|
|
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter)
|
rs745313320
|
|
NM_006899.5(IDH3B):c.522G>T (p.Leu174=)
|
rs778097475
|
|
NM_006899.5(IDH3B):c.665+8G>T
|
rs1555781271
|
|
NM_006922.4(SCN3A):c.3844-19dup
|
rs71028466
|
|
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=)
|
rs370428859
|
|
NM_007055.4(POLR3A):c.1771-5del
|
rs544204280
|
|
NM_007078.3(LDB3):c.896+6669TC[12]
|
rs71019410
|
|
NM_007126.5(VCP):c.1896C>A (p.Ala632=)
|
rs141275388
|
|
NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del)
|
rs761822481
|
|
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup)
|
rs398124241
|
|
NM_007214.5(SEC63):c.340-12_340-11del
|
rs139413431
|
|
NM_007214.5(SEC63):c.340-12_340-7delinsCCC
|
rs1554237221
|
|
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC
|
rs1554237221
|
|
NM_007254.4(PNKP):c.1286_1298+6dup
|
rs760249644
|
|
NM_007254.4(PNKP):c.1295_1298+6del
|
rs587784366
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=)
|
rs794726997
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe)
|
rs56055578
|
|
NM_007294.4(BRCA1):c.439T>C (p.Leu147=)
|
rs794727800
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_012186.3(FOXE3):c.834C>T (p.Pro278=)
|
rs886042525
|
|
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln)
|
rs387906937
|
|
NM_012210.4(TRIM32):c.1108del (p.Met370fs)
|
rs759376012
|
|
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)
|
rs555217187
|
|
NM_012210.4(TRIM32):c.319C>T (p.Leu107=)
|
rs886042410
|
|
NM_012210.4(TRIM32):c.633T>C (p.Ala211=)
|
rs753960738
|
|
NM_012233.3(RAB3GAP1):c.2343_2347del (p.Pro782fs)
|
rs794727324
|
|
NM_012254.3(SLC27A5):c.1407C>T (p.Phe469=)
|
rs536826731
|
|
NM_012254.3(SLC27A5):c.1940G>T (p.Arg647Leu)
|
rs564295346
|
|
NM_012254.3(SLC27A5):c.309G>A (p.Lys103=)
|
rs956885811
|
|
NM_012254.3(SLC27A5):c.813G>T (p.Ala271=)
|
rs559467414
|
|
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
|
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)
|
rs139680786
|
|
NM_012469.4(PRPF6):c.2431+9del
|
rs779390592
|
|
NM_012470.4(TNPO3):c.2274-5A>G
|
rs567711266
|
|
NM_013296.5(GPSM2):c.742del (p.Gly249fs)
|
rs528069912
|
|
NM_013328.4(PYCR2):c.757_758dup (p.Leu254fs)
|
rs886043378
|
|
NM_013335.4(GMPPA):c.486C>G (p.His162Gln)
|
rs36029384
|
|
NM_013382.7(POMT2):c.1658dup (p.Asn553fs)
|
rs886043110
|
|
NM_013382.7(POMT2):c.1726-9A>T
|
rs747493997
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe)
|
rs398124265
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)
|
rs143790434
|
|
NM_014008.5(CCDC22):c.747= (p.Gln249=)
|
rs2294020
|
|
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=)
|
rs144934076
|
|
NM_014112.5(TRPS1):c.933G>A (p.Arg311=)
|
rs886043713
|
|
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly)
|
rs202031614
|
|
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=)
|
rs535454043
|
|
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=)
|
rs187552025
|
|
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu)
|
rs138517537
|
|
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile)
|
rs146225600
|
|
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser)
|
rs727503878
|
|
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=)
|
rs201219937
|
|
NM_014141.6(CNTNAP2):c.3716-17TCTT[3]
|
rs142426153
|
|
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala)
|
rs1057518487
|
|
NM_014231.5(VAMP1):c.65del (p.Pro22fs)
|
rs886042861
|
|
NM_014236.4(GNPAT):c.1752C>T (p.Cys584=)
|
rs775776447
|
|
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)
|
rs41285549
|
|
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=)
|
rs376058580
|
|
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup)
|
rs775509290
|
|
NM_014251.3(SLC25A13):c.848+9G>T
|
rs201395793
|
|
NM_014254.3(RXYLT1):c.641del (p.Phe214fs)
|
rs1354951198
|
|
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)
|
rs199734111
|
|
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)
|
rs150427474
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)
|
rs1555249106
|
|
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu)
|
rs797045938
|
|
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)
|
rs527513599
|
|
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr)
|
rs1566068552
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014425.5(INVS):c.3182dup (p.Asn1061fs)
|
rs760013326
|
|
NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln)
|
rs200784551
|
|
NM_014491.3(FOXP2):c.618_620dupGCA
|
|
|
NM_014491.4(FOXP2):c.1434A>T (p.Arg478=)
|
rs201343293
|
|
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del)
|
rs398124272
|
|
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)
|
rs749740335
|
|
NM_014639.4(SKIC3):c.2292-7C>T
|
rs1554050960
|
|
NM_014639.4(SKIC3):c.3015-14dup
|
rs745805590
|
|
NM_014639.4(SKIC3):c.4497-14dup
|
rs755628334
|
|
NM_014780.5(CUL7):c.1782G>A (p.Ala594=)
|
rs369092411
|
|
NM_014780.5(CUL7):c.2229C>G (p.Ala743=)
|
rs188565648
|
|
NM_014780.5(CUL7):c.2754G>A (p.Thr918=)
|
rs138777262
|
|
NM_014795.4(ZEB2):c.1542G>A (p.Pro514=)
|
rs141674976
|
|
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=)
|
rs141674976
|
|
NM_014795.4(ZEB2):c.3067+6A>T
|
rs143450927
|
|
NM_014795.4(ZEB2):c.980C>A (p.Ser327Ter)
|
rs756686919
|
|
NM_014795.4(ZEB2):c.9G>A (p.Gln3=)
|
rs149882004
|
|
NM_014845.6(FIG4):c.1583+3A>G
|
rs866431185
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val)
|
rs794727035
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser)
|
rs776404901
|
|
NM_014920.5(CILK1):c.1106_1117del (p.Pro369_Leu372del)
|
rs201964851
|
|
NM_014920.5(CILK1):c.534C>T (p.Ser178=)
|
rs543243399
|
|
NM_014920.5(CILK1):c.816A>T (p.Arg272=)
|
rs868057037
|
|
NM_014920.5(CILK1):c.831+5del
|
rs200780900
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr)
|
rs772471723
|
|
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter)
|
rs1555344661
|
|
NM_015102.5(NPHP4):c.1257C>T (p.His419=)
|
rs768393994
|
|
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)
|
rs547495754
|
|
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=)
|
rs201090359
|
|
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)
|
rs560944258
|
|
NM_015102.5(NPHP4):c.594G>C (p.Ala198=)
|
rs141538649
|
|
NM_015107.3(PHF8):c.2210C>G (p.Ser737Ter)
|
rs797044665
|
|
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys)
|
rs41302601
|
|
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=)
|
rs1555604462
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val)
|
rs61758100
|
|
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=)
|
rs766395572
|
|
NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln)
|
rs886042392
|
|
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)
|
rs76290319
|
|
NM_015295.3(SMCHD1):c.4282-5dup
|
rs752013568
|
|
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=)
|
rs757300247
|
|
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=)
|
rs375716830
|
|
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=)
|
rs564855597
|
|
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)
|
rs141880939
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
NM_015346.4(ZFYVE26):c.5485-1del
|
rs878855013
|
|
NM_015404.4(WHRN):c.1417-1G>A
|
rs779760634
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015629.4(PRPF31):c.527+9G>T
|
rs376994481
|
|
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)
|
rs112033303
|
|
NM_015702.3(MMADHC):c.609+8_609+100del
|
rs1553453945
|
|
NM_015884.4(MBTPS2):c.348CTCTTCTTCCTCTTCCTC[1] (p.Ser131_Ser136del)
|
rs762761040
|
|
NM_015909.4(NBAS):c.2950del (p.Ile984fs)
|
rs776797592
|
|
NM_015910.7(WDPCP):c.385-3del
|
rs559429215
|
|
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)
|
rs587784224
|
|
NM_015922.3(NSDHL):c.842G>A (p.Arg281His)
|
rs782143078
|
|
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter)
|
rs116887602
|
|
NM_016239.4(MYO15A):c.1323G>A (p.Ala441=)
|
rs376905344
|
|
NM_016239.4(MYO15A):c.534C>T (p.Ala178=)
|
rs749146534
|
|
NM_016239.4(MYO15A):c.6178-1G>A
|
rs886044338
|
|
NM_016247.4(IMPG2):c.3423-7_3423-4del
|
rs534452999
|
|
NM_016247.4(IMPG2):c.534-13dup
|
rs567795716
|
|
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)
|
rs904520404
|
|
NM_016356.5(DCDC2):c.543C>T (p.Ser181=)
|
rs141060456
|
|
NM_016356.5(DCDC2):c.696G>A (p.Arg232=)
|
rs758802517
|
|
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)
|
rs774115675
|
|
NM_016366.3(CABP2):c.201C>A (p.Ala67=)
|
rs138981491
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_016729.3(FOLR1):c.510A>G (p.Ala170=)
|
rs564331848
|
|
NM_016955.5(SEPSECS):c.808dup
|
rs776969714
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=)
|
rs372169216
|
|
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly)
|
rs727504688
|
|
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys)
|
rs1555571267
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=)
|
rs28372779
|
|
NM_017668.3(NDE1):c.1A>G (p.Met1Val)
|
rs794727491
|
|
NM_017668.3(NDE1):c.701G>A (p.Arg234His)
|
rs138255766
|
|
NM_017775.3(TTC19):c.-169C>G
|
rs73276077
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_017780.4(CHD7):c.2377-3dup
|
rs752271550
|
|
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys)
|
rs373301291
|
|
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val)
|
rs886044116
|
|
NM_017837.4(PIGV):c.678G>A (p.Thr226=)
|
rs769023704
|
|
NM_017866.6(TMEM70):c.720_723del (p.Glu241fs)
|
rs746973761
|
|
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser)
|
rs527373013
|
|
NM_017882.3(CLN6):c.721A>G (p.Met241Val)
|
rs753994750
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del)
|
rs542254849
|
|
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter)
|
rs374909386
|
|
NM_018006.5(TRMU):c.102G>A (p.Val34=)
|
rs1426898716
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.248+9_248+18del
|
rs763718617
|
|
NM_018006.5(TRMU):c.99G>A (p.Gly33=)
|
rs1569060096
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly)
|
rs3804506
|
|
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)
|
rs587783241
|
|
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His)
|
rs141297873
|
|
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly)
|
rs886043529
|
|
NM_018136.5(ASPM):c.9830-8dup
|
rs748383126
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018451.5(CPAP):c.1908C>G (p.Arg636=)
|
rs61743613
|
|
NM_018451.5(CPAP):c.2992-17dup
|
rs35599563
|
|
NM_018451.5(CPAP):c.3538_3539delinsTG (p.Glu1180Ter)
|
rs1566276461
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)
|
rs2234253
|
|
NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg)
|
rs72650768
|
|
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2])
|
rs794726941
|
|
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3])
|
rs1386125417
|
|
NM_019066.5(MAGEL2):c.2919G>A (p.Pro973=)
|
rs544938560
|
|
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1])
|
rs751352401
|
|
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1])
|
rs528108868
|
|
NM_019098.5(CNGB3):c.843A>G (p.Gly281=)
|
rs1200686449
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019109.5(ALG1):c.390+13C>A
|
rs62036244
|
|
NM_020166.5(MCCC1):c.156C>A (p.Val52=)
|
rs398124353
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
NM_020184.4(CNNM4):c.627G>A (p.Leu209=)
|
rs1553474576
|
|
NM_020223.4(FAM20C):c.200C>A (p.Pro67His)
|
rs538469200
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020320.5(RARS2):c.888G>A (p.Thr296=)
|
rs145189950
|
|
NM_020365.5(EIF2B3):c.32G>T (p.Gly11Val)
|
rs754415797
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del)
|
rs557068877
|
|
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup)
|
rs141295085
|
|
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)
|
rs867638588
|
|
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=)
|
rs148232621
|
|
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs)
|
rs780343109
|
|
NM_020751.3(COG6):c.-17dup
|
rs67765306
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020822.3(KCNT1):c.1620-15_1620-5dup
|
rs761464076
|
|
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
|
|
|
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
|
rs200694691
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[4]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[7]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[8]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[9]
|
rs55843930
|
|
NM_020975.6(RET):c.2284+54C>A
|
rs566375223
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)
|
rs886041715
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup)
|
rs747975797
|
|
NM_021072.4(HCN1):c.336C>A (p.Arg112=)
|
rs794726951
|
|
NM_021625.5(TRPV4):c.396G>A (p.Pro132=)
|
rs114101785
|
|
NM_021728.4(OTX2):c.444G>C (p.Pro148=)
|
rs147896150
|
|
NM_021939.4(FKBP10):c.1029C>T (p.Ile343=)
|
rs782632205
|
|
NM_021939.4(FKBP10):c.21C>T (p.Pro7=)
|
rs781985978
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
NM_022039.4(FBXW4):c.485AGG[8] (p.Glu168dup)
|
rs560966094
|
|
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)
|
rs562525508
|
|
NM_022124.6(CDH23):c.2532C>T (p.Asn844=)
|
rs756454038
|
|
NM_022124.6(CDH23):c.3477G>C (p.Leu1159=)
|
rs1564759522
|
|
NM_022124.6(CDH23):c.4209+1G>T
|
rs727503841
|
|
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022124.6(CDH23):c.6108C>T (p.Ile2036=)
|
rs749235545
|
|
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val)
|
rs573057228
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)
|
rs121908453
|
|
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)
|
rs140468248
|
|
NM_022356.4(P3H1):c.2148= (p.Gly716=)
|
rs4660662
|
|
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=)
|
rs575266356
|
|
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile)
|
rs72542426
|
|
NM_022436.3(ABCG5):c.501+11dup
|
rs200655485
|
|
NM_022436.3(ABCG5):c.550C>T (p.Leu184=)
|
rs762951266
|
|
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser)
|
rs145373839
|
|
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys)
|
rs4148217
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=)
|
rs202176869
|
|
NM_022437.3(ABCG8):c.1756+6G>A
|
rs375563605
|
|
NM_022437.3(ABCG8):c.1756+6G>T
|
rs375563605
|
|
NM_022437.3(ABCG8):c.1757-4C>G
|
rs765522418
|
|
NM_022437.3(ABCG8):c.1884+9G>A
|
rs759152941
|
|
NM_022437.3(ABCG8):c.1885-7T>C
|
rs1485558944
|
|
NM_022437.3(ABCG8):c.547del (p.Gln183fs)
|
rs387906323
|
|
NM_022437.3(ABCG8):c.576C>A (p.Ile192=)
|
rs148058949
|
|
NM_022437.3(ABCG8):c.642G>A (p.Ser214=)
|
rs202198142
|
|
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs)
|
rs1456237152
|
|
NM_022437.3(ABCG8):c.768C>T (p.Ser256=)
|
rs1558811634
|
|
NM_022437.3(ABCG8):c.965-1G>C
|
rs957176669
|
|
NM_022455.5(NSD1):c.1260A>G (p.Lys420=)
|
rs1397377820
|
|
NM_022455.5(NSD1):c.2309G>T (p.Gly770Val)
|
rs375566261
|
|
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe)
|
rs559441081
|
|
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=)
|
rs794727734
|
|
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724
|
|
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)
|
rs61749654
|
|
NM_022455.5(NSD1):c.6152-14G>A
|
rs587784182
|
|
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)
|
rs398124380
|
|
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del)
|
rs398124385
|
|
NM_022455.5(NSD1):c.7632C>T (p.Ala2544=)
|
rs886042468
|
|
NM_022458.4(LMBR1):c.528C>G (p.Ala176=)
|
rs138255184
|
|
NM_024009.3(GJB3):c.196_198del (p.Asp66del)
|
rs786200895
|
|
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)
|
rs727503069
|
|
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly)
|
rs794727931
|
|
NM_024120.5(NDUFAF5):c.718-1G>A
|
rs1359810808
|
|
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)
|
rs1450841129
|
|
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)
|
rs759875552
|
|
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)
|
rs747789493
|
|
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
|
|
|
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs)
|
rs281864954
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=)
|
rs4021006
|
|
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=)
|
rs149036937
|
|
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)
|
rs17024517
|
|
NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe)
|
rs17024517
|
|
NM_024408.4(NOTCH2):c.5781+10A>C
|
rs369586235
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
|
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg)
|
rs115033462
|
|
NM_024596.5(MCPH1):c.216G>A (p.Ser72=)
|
rs775942126
|
|
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=)
|
rs35999761
|
|
NM_024596.5(MCPH1):c.433C>T (p.Leu145=)
|
rs139607465
|
|
NM_024596.5(MCPH1):c.90A>G (p.Thr30=)
|
rs139678787
|
|
NM_024608.4(NEIL1):c.314dup (p.Pro106fs)
|
rs556576971
|
|
NM_024747.6(HPS6):c.444C>G (p.Ala148=)
|
rs533784966
|
|
NM_024753.5(TTC21B):c.2569-10dup
|
rs144600502
|
|
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=)
|
rs115504901
|
|
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn)
|
rs138283222
|
|
NM_024757.5(EHMT1):c.3180+10G>T
|
rs113676865
|
|
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=)
|
rs398124407
|
|
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr)
|
rs777999570
|
|
NM_024757.5(EHMT1):c.390G>A (p.Pro130=)
|
rs144323841
|
|
NM_024757.5(EHMT1):c.432C>T (p.Ala144=)
|
rs139461232
|
|
NM_025074.7(FRAS1):c.4365G>C (p.Ala1455=)
|
rs375417798
|
|
NM_025074.7(FRAS1):c.4857A>G (p.Val1619=)
|
rs886044144
|
|
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)
|
rs775517752
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2067G>A (p.Lys689=)
|
rs1425613490
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.251-19dup
|
rs752284551
|
|
NM_025193.4(HSD3B7):c.890del (p.Phe297fs)
|
rs886043511
|
|
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=)
|
rs151265913
|
|
NM_025243.4(SLC19A3):c.*8G>A
|
rs188532608
|
|
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)
|
rs138363524
|
|
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)
|
rs146117200
|
|
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter)
|
rs1060499602
|
|
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)
|
rs868044680
|
|
NM_030665.4(RAI1):c.139G>A (p.Ala47Thr)
|
rs398124413
|
|
NM_030665.4(RAI1):c.2659A>G (p.Met887Val)
|
rs794727523
|
|
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=)
|
rs398124416
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup)
|
rs371983878
|
|
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)
|
rs371983878
|
|
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)
|
rs371983878
|
|
NM_030665.4(RAI1):c.849G>A (p.Gln283=)
|
rs886042730
|
|
NM_030753.5(WNT3):c.309C>A (p.Pro103=)
|
rs749737942
|
|
NM_030962.4(SBF2):c.619+1G>A
|
rs1565150234
|
|
NM_031443.4(CCM2):c.30+5_30+6delinsTT
|
rs797044623
|
|
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe)
|
rs794728017
|
|
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)
|
rs756853672
|
|
NM_032119.4(ADGRV1):c.11157C>A (p.Ile3719=)
|
rs762094907
|
|
NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His)
|
rs542081391
|
|
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu)
|
rs201747452
|
|
NM_032119.4(ADGRV1):c.14928C>T (p.His4976=)
|
rs1251473317
|
|
NM_032119.4(ADGRV1):c.15837C>A (p.Ile5279=)
|
rs765630970
|
|
NM_032119.4(ADGRV1):c.16248C>G (p.Val5416=)
|
rs3763073
|
|
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)
|
rs41303350
|
|
NM_032119.4(ADGRV1):c.17215A>G (p.Ile5739Val)
|
rs747089219
|
|
NM_032119.4(ADGRV1):c.18229G>A (p.Val6077Met)
|
rs762746997
|
|
NM_032119.4(ADGRV1):c.18433-5del
|
rs35858094
|
|
NM_032119.4(ADGRV1):c.18433-5dup
|
rs35858094
|
|
NM_032119.4(ADGRV1):c.18433-7_18433-5del
|
rs35858094
|
|
NM_032119.4(ADGRV1):c.18433-9_18433-5del
|
rs35858094
|
|
NM_032119.4(ADGRV1):c.2106G>A (p.Val702=)
|
rs749630454
|
|
NM_032119.4(ADGRV1):c.2567A>G (p.Tyr856Cys)
|
rs558804189
|
|
NM_032119.4(ADGRV1):c.5784C>T (p.Ser1928=)
|
rs199605700
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)
|
rs41303352
|
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352
|
|
NM_032119.4(ADGRV1):c.600A>G (p.Pro200=)
|
rs776978539
|
|
NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His)
|
rs572910896
|
|
NM_032119.4(ADGRV1):c.7095G>A (p.Leu2365=)
|
rs794727564
|
|
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)
|
rs111033452
|
|
NM_032119.4(ADGRV1):c.8730+21dup
|
rs60522638
|
|
NM_032119.4(ADGRV1):c.8730+9_8730+10del
|
rs780180737
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln)
|
rs1064795280
|
|
NM_032634.4(PIGO):c.1810dup (p.Arg604fs)
|
rs774508288
|
|
NM_032856.5(WDR73):c.1132del (p.Arg378fs)
|
rs747109506
|
|
NM_032856.5(WDR73):c.1132dup (p.Arg378fs)
|
rs747109506
|
|
NM_033056.3(PCDH15):c.4368-13_4368-10dup
|
rs530804327
|
|
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs)
|
rs545191822
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)
|
rs557936064
|
|
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs)
|
rs794727570
|
|
NM_033087.4(ALG2):c.760T>C (p.Leu254=)
|
rs62562374
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_033337.3(CAV3):c.10_17del (p.Glu4fs)
|
rs778914298
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg)
|
rs199476337
|
|
NM_033337.3(CAV3):c.312G>A (p.Val104=)
|
rs794727305
|
|
NM_033337.3(CAV3):c.399C>T (p.Phe133=)
|
rs769859957
|
|
NM_033337.3(CAV3):c.402G>C (p.Ala134=)
|
rs559206877
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu)
|
rs34740537
|
|
NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn)
|
rs150454971
|
|
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu)
|
rs78817184
|
|
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del)
|
rs75967604
|
|
NM_053025.4(MYLK):c.4289-10_4289-9dup
|
rs41431347
|
|
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)
|
rs376371866
|
|
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)
|
rs869320701
|
|
NM_058246.4(DNAJB6):c.429G>A (p.Ala143=)
|
rs150709673
|
|
NM_080680.3(COL11A2):c.1180-4A>G
|
rs1554221961
|
|
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)
|
rs199866657
|
|
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs)
|
rs886044584
|
|
NM_080680.3(COL11A2):c.2584-5del
|
rs555657704
|
|
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=)
|
rs146093235
|
|
NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=)
|
rs886044178
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu)
|
rs794727069
|
|
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)
|
rs1553877946
|
|
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser)
|
rs886043340
|
|
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)
|
rs794727173
|
|
NM_130837.3(OPA1):c.1755-6dup
|
rs748933560
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_130837.3(OPA1):c.2441-4C>G
|
rs763386320
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_130837.3(OPA1):c.610+360G>A
|
rs1553872542
|
|
NM_130837.3(OPA1):c.610+364G>A
|
rs983041061
|
|
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=)
|
rs587782926
|
|
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)
|
rs863225070
|
|
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr)
|
rs147145506
|
|
NM_133261.3(GIPC3):c.855C>G (p.Ser285=)
|
rs766192644
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
NM_133379.5(TTN):c.12699T>C (p.Ala4233=)
|
rs185931752
|
|
NM_133379.5(TTN):c.15313C>A (p.Arg5105=)
|
rs376396183
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.5863-31TA[11]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)
|
rs587784006
|
|
NM_133642.5(LARGE1):c.1452-28C>T
|
rs76647066
|
|
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)
|
rs576967464
|
|
NM_133642.5(LARGE1):c.909T>G (p.Leu303=)
|
rs563144239
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del)
|
rs376040866
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)
|
rs553752644
|
|
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)
|
rs76572975
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11785+1_11785+35del
|
rs761547193
|
|
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=)
|
rs1561967407
|
|
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
|
rs141790557
|
|
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg)
|
rs727504092
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)
|
rs794727466
|
|
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=)
|
rs577832997
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)
|
rs147529495
|
|
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=)
|
rs144841026
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile)
|
rs1554197025
|
|
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu)
|
rs886042677
|
|
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA
|
rs1562581286
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.778+10C>G
|
rs1365502451
|
|
NM_138694.4(PKHD1):c.8174-18dup
|
rs566540835
|
|
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)
|
rs375145340
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11])
|
rs750165040
|
|
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7])
|
rs750165040
|
|
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)
|
rs398124508
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.30C>A (p.Cys10Ter)
|
rs794726959
|
|
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)
|
rs398124510
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.24GGC[6] (p.Ala15_Ala16del)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup)
|
rs531550505
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_144997.7(FLCN):c.1179del (p.Met394fs)
|
rs398124525
|
|
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)
|
rs398124532
|
|
NM_145239.3(PRRT2):c.564G>A (p.Gln188=)
|
rs545201760
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del)
|
rs10578999
|
|
NM_152281.3(GORAB):c.420-2A>T
|
rs1558006532
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)
|
rs794729650
|
|
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=)
|
rs758028194
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln)
|
rs150272676
|
|
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=)
|
rs1046756662
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=)
|
rs139421676
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
NM_153240.5(NPHP3):c.171C>A (p.Pro57=)
|
rs778581370
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer)
|
rs758558609
|
|
NM_153240.5(NPHP3):c.3697-14dup
|
rs564013823
|
|
NM_153240.5(NPHP3):c.406del (p.Thr136fs)
|
rs1379989124
|
|
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
|
rs747052534
|
|
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro)
|
rs1560014265
|
|
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg)
|
rs766285779
|
|
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)
|
rs35401386
|
|
NM_170699.3(GPBAR1):c.157TTC[1] (p.Phe54del)
|
rs767819043
|
|
NM_170699.3(GPBAR1):c.975C>A (p.Val325=)
|
rs202200326
|
|
NM_170699.3(GPBAR1):c.975C>T (p.Val325=)
|
rs202200326
|
|
NM_170707.4(LMNA):c.1122C>T (p.His374=)
|
rs143715750
|
|
NM_170707.4(LMNA):c.1142_1157+1del
|
rs1553265755
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)
|
rs60446065
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1488+1G>A
|
rs267607640
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1599C>T (p.Ser533=)
|
rs886043346
|
|
NM_170707.4(LMNA):c.1609-1G>A
|
rs111569862
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)
|
rs61444459
|
|
NM_170707.4(LMNA):c.1827A>T (p.Gly609=)
|
rs1558135172
|
|
NM_170707.4(LMNA):c.3G>T (p.Met1Ile)
|
rs794728598
|
|
NM_170707.4(LMNA):c.483G>A (p.Glu161=)
|
rs1553264647
|
|
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)
|
rs267607629
|
|
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg)
|
rs267607609
|
|
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)
|
rs58327533
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)
|
rs58978449
|
|
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)
|
rs397517912
|
|
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)
|
rs886041339
|
|
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=)
|
rs1801545
|
|
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)
|
rs28939684
|
|
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile)
|
rs794727741
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg)
|
rs794727813
|
|
NM_172245.4(CSF2RA):c.774_780+10dup
|
rs377345813
|
|
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=)
|
rs201783863
|
|
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=)
|
rs116214586
|
|
NM_173477.5(USH1G):c.1311del (p.Lys438fs)
|
rs886043626
|
|
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)
|
rs376805794
|
|
NM_173660.5(DOK7):c.161G>A (p.Arg54His)
|
rs201818140
|
|
NM_173660.5(DOK7):c.918C>T (p.Ala306=)
|
rs141947707
|
|
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)
|
rs879255251
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
NM_175737.4(KLB):c.2329_2331del (p.Phe777del)
|
rs549659598
|
|
NM_175875.5(SIX5):c.1872C>T (p.Pro624=)
|
rs373614429
|
|
NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu)
|
rs140816771
|
|
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
|
rs773139166
|
|
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=)
|
rs2259136
|
|
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp)
|
rs1567759130
|
|
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val)
|
rs201534650
|
|
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=)
|
rs3747334
|
|
NM_181882.3(PRX):c.2787del (p.Lys930fs)
|
rs754521978
|
|
NM_182914.3(SYNE2):c.11944A>G (p.Asn3982Asp)
|
rs10137972
|
|
NM_182914.3(SYNE2):c.12109-10_12109-7del
|
rs755277543
|
|
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln)
|
rs202240664
|
|
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=)
|
rs79037871
|
|
NM_182961.3(SYNE1):c.23146-7dup
|
rs770820426
|
|
NM_182961.4(SYNE1):c.10503A>G (p.Leu3501=)
|
rs1563330296
|
|
NM_182961.4(SYNE1):c.1062C>T (p.Phe354=)
|
rs1057523855
|
|
NM_182961.4(SYNE1):c.10869C>T (p.Pro3623=)
|
rs1554523565
|
|
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)
|
rs148028681
|
|
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)
|
rs149536991
|
|
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=)
|
rs755709525
|
|
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=)
|
rs146180064
|
|
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala)
|
rs200954103
|
|
NM_182961.4(SYNE1):c.14955+4G>C
|
rs535755402
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=)
|
rs141380170
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_182961.4(SYNE1):c.17203-6del
|
rs55633181
|
|
NM_182961.4(SYNE1):c.17203-6dup
|
rs55633181
|
|
NM_182961.4(SYNE1):c.17203-7_17203-6del
|
rs55633181
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=)
|
rs201090220
|
|
NM_182961.4(SYNE1):c.21639G>A (p.Leu7213=)
|
rs886043685
|
|
NM_182961.4(SYNE1):c.21768G>A (p.Gln7256=)
|
rs1554226552
|
|
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs)
|
rs1554558620
|
|
NM_182961.4(SYNE1):c.23791-6del
|
rs757124573
|
|
NM_182961.4(SYNE1):c.23979-7G>C
|
rs376918337
|
|
NM_182961.4(SYNE1):c.24723C>T (p.His8241=)
|
rs141586001
|
|
NM_182961.4(SYNE1):c.25119+1G>A
|
rs1164612098
|
|
NM_182961.4(SYNE1):c.393A>C (p.Leu131=)
|
rs139291592
|
|
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)
|
rs794727577
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
NM_182961.4(SYNE1):c.581+10A>G
|
rs771573516
|
|
NM_182961.4(SYNE1):c.5877A>G (p.Val1959=)
|
rs1057522688
|
|
NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
NM_182961.4(SYNE1):c.7620G>A (p.Thr2540=)
|
rs142663488
|
|
NM_182961.4(SYNE1):c.7713-5T>C
|
rs893217390
|
|
NM_182961.4(SYNE1):c.779-4dup
|
rs567435072
|
|
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=)
|
rs749172868
|
|
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=)
|
rs376622495
|
|
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)
|
rs6913579
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=)
|
rs184006845
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro)
|
rs371518124
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.951+48C>T
|
rs3749896
|
|
NM_194248.3(OTOF):c.1803+7dup
|
rs755835793
|
|
NM_194248.3(OTOF):c.51C>T (p.Gly17=)
|
rs142333075
|
|
NM_194318.4(B3GLCT):c.71-5del
|
rs398022187
|
|
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)
|
rs886043300
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198506.5(LRIT3):c.1184CTT[1] (p.Ser396del)
|
rs794727660
|
|
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del)
|
rs145776307
|
|
NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly)
|
rs79039619
|
|
NM_198525.3(KIF7):c.195G>C (p.Ala65=)
|
rs8179066
|
|
NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp)
|
rs141867330
|
|
NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu)
|
rs141514601
|
|
NM_198525.3(KIF7):c.2719-28CCCT[8]
|
rs3840030
|
|
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)
|
rs142032413
|
|
NM_198525.3(KIF7):c.978C>T (p.Val326=)
|
rs555659148
|
|
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)
|
rs727503941
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201384.3(PLEC):c.1002C>T (p.Ala334=)
|
rs370574829
|
|
NM_201384.3(PLEC):c.10296C>A (p.Ala3432=)
|
rs201848957
|
|
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=)
|
rs6992333
|
|
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met)
|
rs373863249
|
|
NM_201384.3(PLEC):c.11724G>T (p.Ala3908=)
|
rs374595008
|
|
NM_201384.3(PLEC):c.1191C>A (p.Ile397=)
|
rs781888321
|
|
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)
|
rs185022156
|
|
NM_201384.3(PLEC):c.1245C>G (p.Ala415=)
|
rs782527499
|
|
NM_201384.3(PLEC):c.1248C>T (p.Asp416=)
|
rs572481168
|
|
NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG
|
rs1064794978
|
|
NM_201384.3(PLEC):c.13287C>A (p.Gly4429=)
|
rs782581005
|
|
NM_201384.3(PLEC):c.13347G>A (p.Ala4449=)
|
rs368660987
|
|
NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)
|
rs781929758
|
|
NM_201384.3(PLEC):c.1418+10G>C
|
rs782571969
|
|
NM_201384.3(PLEC):c.2178+9C>G
|
rs114256617
|
|
NM_201384.3(PLEC):c.2304+9dup
|
rs35671527
|
|
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1])
|
rs786205252
|
|
NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln)
|
rs367627441
|
|
NM_201384.3(PLEC):c.3375C>G (p.Leu1125=)
|
rs782733038
|
|
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=)
|
rs201552166
|
|
NM_201384.3(PLEC):c.378T>G (p.Ala126=)
|
rs6993938
|
|
NM_201384.3(PLEC):c.4255C>T (p.Gln1419Ter)
|
rs886044836
|
|
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln)
|
rs201430180
|
|
NM_201384.3(PLEC):c.5082G>A (p.Leu1694=)
|
rs182961574
|
|
NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln)
|
rs782213742
|
|
NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val)
|
rs200949161
|
|
NM_201384.3(PLEC):c.5922G>C (p.Gln1974His)
|
rs202190540
|
|
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met)
|
rs201588551
|
|
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met)
|
rs886044784
|
|
NM_201384.3(PLEC):c.6531G>A (p.Thr2177=)
|
rs782621816
|
|
NM_201384.3(PLEC):c.6573G>A (p.Leu2191=)
|
rs1564019780
|
|
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)
|
rs199504105
|
|
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)
|
rs376112916
|
|
NM_201384.3(PLEC):c.7983C>T (p.Ala2661=)
|
rs376058402
|
|
NM_201384.3(PLEC):c.804G>A (p.Val268=)
|
rs1554721745
|
|
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)
|
rs200814155
|
|
NM_201384.3(PLEC):c.8532G>C (p.Ala2844=)
|
rs782732824
|
|
NM_201384.3(PLEC):c.9081G>A (p.Ala3027=)
|
rs199758196
|
|
NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys)
|
rs201402970
|
|
NM_201525.4(ADGRG1):c.2040C>G (p.Gly680=)
|
rs794727146
|
|
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg)
|
rs1801257
|
|
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp)
|
rs727503857
|
|
NM_201548.5(CERKL):c.239-1G>A
|
rs1559100465
|
|
NM_203475.3(PORCN):c.1093C>T (p.Arg365Trp)
|
rs398124616
|
|
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)
|
rs376905666
|
|
NM_203486.3(DLL3):c.982G>T (p.Val328Phe)
|
rs749513254
|
|
NM_206883.2(SLC26A5):c.292+8_292+9dup
|
rs112791865
|
|
NM_206933.4(USH2A):c.*4A>G
|
rs530405236
|
|
NM_206933.4(USH2A):c.10388-17_10388-7del
|
rs1442627890
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_206933.4(USH2A):c.1181C>G (p.Pro394Arg)
|
rs775922302
|
|
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser)
|
rs541022183
|
|
NM_206933.4(USH2A):c.15306C>G (p.Ala5102=)
|
rs149506333
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1891G>A (p.Asp631Asn)
|
rs552400144
|
|
NM_206933.4(USH2A):c.2835C>T (p.Ala945=)
|
rs1311224729
|
|
NM_206933.4(USH2A):c.4383A>G (p.Gln1461=)
|
rs978359064
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5167+1G>T
|
rs794727408
|
|
NM_206933.4(USH2A):c.6094C>T (p.Leu2032=)
|
rs1385829693
|
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
|
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.7527G>T (p.Arg2509=)
|
rs575939496
|
|
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His)
|
rs189748047
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=)
|
rs397518040
|
|
NM_206933.4(USH2A):c.8778G>A (p.Glu2926=)
|
rs374146074
|
|
NM_206933.4(USH2A):c.9958+8G>T
|
rs370383574
|
|
NM_206965.2(FTCD):c.1366dup (p.Glu456fs)
|
rs777099958
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|
NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
|
rs111589746
|
|
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly)
|
rs201351319
|
|
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly)
|
rs1555644694
|
|
NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=)
|
rs374270799
|
|
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup)
|
rs570476408
|
|
NM_207361.6(FREM2):c.5954dup (p.Met1985fs)
|
rs886043213
|
|
NM_207361.6(FREM2):c.7329T>A (p.Pro2443=)
|
rs1303270704
|
|
NM_207361.6(FREM2):c.7520-10_7520-9insCT
|
rs1399473815
|
|
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter)
|
rs1554930267
|
|
NM_213599.3(ANO5):c.1222C>T (p.Leu408=)
|
rs997655691
|
|
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile)
|
rs281865467
|
|
NM_213599.3(ANO5):c.2236-13_2236-10del
|
rs72105710
|
|
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del)
|
rs794727350
|
|
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys)
|
rs34969327
|
|
NM_213599.3(ANO5):c.2688C>G (p.Ala896=)
|
rs377549896
|
|
NM_213599.3(ANO5):c.295-8dup
|
rs778435515
|
|
NM_213599.3(ANO5):c.364-8del
|
rs146983312
|
|
NM_213599.3(ANO5):c.879-7_879-6del
|
rs143977836
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|
Single allele
|
|
|