NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
NM_000144.5(FXN):c.54A>G (p.Pro18=)
|
rs2481598
|
0.98511
|
NM_006214.4(PHYH):c.153C>T (p.Asn51=)
|
rs1747682
|
0.96869
|
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)
|
rs31304
|
0.96579
|
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=)
|
rs7213318
|
0.93459
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=)
|
rs11402
|
0.90128
|
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_078470.6(COX15):c.*1126T>C
|
rs2231687
|
0.83974
|
NM_000038.6(APC):c.5465T>A (p.Val1822Asp)
|
rs459552
|
0.82099
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=)
|
rs31303
|
0.79100
|
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)
|
rs906807
|
0.78836
|
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)
|
rs11553521
|
0.77624
|
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)
|
rs2278008
|
0.75062
|
NM_001358921.2(COQ2):c.744T>C (p.Asp248=)
|
rs6535454
|
0.74903
|
NM_002617.4(PEX10):c.291A>G (p.Thr97=)
|
rs2494598
|
0.74152
|
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)
|
rs2287939
|
0.73966
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_000179.3(MSH6):c.3802-40C>G
|
rs3136367
|
0.73398
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_025136.4(OPA3):c.231T>C (p.Ala77=)
|
rs3826860
|
0.70508
|
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=)
|
rs2083411
|
0.70392
|
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=)
|
rs6741066
|
0.69341
|
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)
|
rs11080572
|
0.67857
|
NM_000546.6(TP53):c.74+38C>G
|
rs1642785
|
0.66254
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_002495.4(NDUFS4):c.12G>C (p.Val4=)
|
rs2279516
|
0.65985
|
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_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)
|
rs158921
|
0.63042
|
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_024884.3(L2HGDH):c.53T>G (p.Leu18Arg)
|
rs2275591
|
0.58246
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=)
|
rs2297995
|
0.57826
|
NM_152783.5(D2HGDH):c.685-9T>C
|
rs4234097
|
0.55730
|
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)
|
rs4789164
|
0.52943
|
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)
|
rs1142530
|
0.52046
|
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)
|
rs627441
|
0.51169
|
NM_001953.5(TYMP):c.972C>T (p.Ala324=)
|
rs131804
|
0.51130
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=)
|
rs6684
|
0.48379
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)
|
rs3738725
|
0.42035
|
NM_014324.6(AMACR):c.25G>A (p.Val9Met)
|
rs3195676
|
0.42007
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr)
|
rs11528010
|
0.40719
|
NM_000287.4(PEX6):c.399G>T (p.Val133=)
|
rs9462858
|
0.40569
|
NM_000203.5(IDUA):c.60G>A (p.Ala20=)
|
rs10902762
|
0.39819
|
NM_182476.3(COQ6):c.1216G>A (p.Val406Met)
|
rs8500
|
0.39628
|
NM_002294.3(LAMP2):c.156A>T (p.Val52=)
|
rs12097
|
0.39324
|
NM_005908.4(MANBA):c.757G>A (p.Val253Ile)
|
rs227368
|
0.39095
|
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=)
|
rs13848
|
0.38961
|
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)
|
rs10941112
|
0.38660
|
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=)
|
rs5398
|
0.38373
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_001098.3(ACO2):c.670C>T (p.Leu224=)
|
rs1799932
|
0.36650
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr)
|
rs2760118
|
0.35507
|
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)
|
rs1801318
|
0.34874
|
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_001931.5(DLAT):c.128C>T (p.Ala43Val)
|
rs2303436
|
0.32827
|
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)
|
rs10891314
|
0.32172
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
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_182476.3(COQ6):c.570T>C (p.His190=)
|
rs3180946
|
0.30516
|
NM_000925.4(PDHB):c.438G>A (p.Gly146=)
|
rs1126551
|
0.30058
|
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser)
|
rs2297950
|
0.29831
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_021871.4(FGA):c.991A>G (p.Thr331Ala)
|
rs6050
|
0.29256
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_001098.3(ACO2):c.192A>C (p.Thr64=)
|
rs137831
|
0.29094
|
NM_006214.4(PHYH):c.636A>G (p.Thr212=)
|
rs473407
|
0.28866
|
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565
|
0.28594
|
NM_002055.5(GFAP):c.*28C>G
|
rs11558961
|
0.27601
|
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln)
|
rs77940364
|
0.27302
|
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)
|
rs3219489
|
0.26720
|
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile)
|
rs1106639
|
0.25945
|
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)
|
rs1051338
|
0.25399
|
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys)
|
rs1047991
|
0.24628
|
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu)
|
rs1053077
|
0.23539
|
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala)
|
rs1053079
|
0.23525
|
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile)
|
rs5400
|
0.23124
|
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_002633.3(PGM1):c.661C>T (p.Arg221Cys)
|
rs1126728
|
0.22903
|
NM_003793.4(CTSF):c.126C>T (p.Pro42=)
|
rs1044522
|
0.22868
|
NM_001358921.2(COQ2):c.840C>T (p.Ser280=)
|
rs1129617
|
0.22636
|
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His)
|
rs1899
|
0.22292
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)
|
rs17078605
|
0.21747
|
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)
|
rs2737699
|
0.21736
|
NM_000404.4(GLB1):c.1233+8T>C
|
rs13093698
|
0.21250
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_000027.4(AGA):c.281+13T>G
|
rs34241758
|
0.19395
|
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_005670.4(EPM2A):c.402G>A (p.Gly134=)
|
rs35230590
|
0.18342
|
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val)
|
rs1105273
|
0.17904
|
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_002633.3(PGM1):c.*22C>T
|
rs8294
|
0.17190
|
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)
|
rs73066479
|
0.16867
|
NM_002633.3(PGM1):c.262A>G (p.Ile88Val)
|
rs855314
|
0.16859
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
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_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)
|
rs11558492
|
0.15938
|
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=)
|
rs5404
|
0.15665
|
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)
|
rs28938169
|
0.15001
|
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=)
|
rs4953042
|
0.14931
|
NM_001040436.3(YARS2):c.291C>T (p.Gly97=)
|
rs11539444
|
0.14354
|
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val)
|
rs11539445
|
0.14334
|
NM_000152.5(GAA):c.2331+24T>C
|
rs2304831
|
0.13841
|
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)
|
rs11090865
|
0.13476
|
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)
|
rs1051339
|
0.13459
|
NM_014363.6(SACS):c.171+6C>T
|
rs3751368
|
0.13441
|
NM_000179.3(MSH6):c.260+22C>G
|
rs55927047
|
0.13136
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly)
|
rs12900702
|
0.12962
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)
|
rs10805890
|
0.12644
|
NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
|
rs8802
|
0.12189
|
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=)
|
rs1136207
|
0.11971
|
NM_001698.3(AUH):c.483A>C (p.Ile161=)
|
rs7874056
|
0.11827
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
NM_021074.5(NDUFV2):c.201A>T (p.Val67=)
|
rs41274300
|
0.11303
|
NM_014324.6(AMACR):c.717G>T (p.Gln239His)
|
rs34677
|
0.11264
|
NM_198586.3(NHLRC1):c.312T>C (p.His104=)
|
rs115931931
|
0.10897
|
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)
|
rs472294
|
0.10691
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000512.5(GALNS):c.199C>A (p.Leu67Met)
|
rs11862754
|
0.10099
|
NM_004360.5(CDH1):c.1937-13T>C
|
rs2276330
|
0.09635
|
NM_016035.5(COQ4):c.318G>A (p.Ser106=)
|
rs2270203
|
0.09525
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg)
|
rs17850652
|
0.09110
|
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala)
|
rs34507036
|
0.09001
|
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)
|
rs35836657
|
0.08930
|
NM_153033.5(KCTD7):c.267G>A (p.Thr89=)
|
rs3764904
|
0.08655
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
NM_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
0.08387
|
NM_182476.3(COQ6):c.1016A>T (p.Asp339Val)
|
rs2074930
|
0.08198
|
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val)
|
rs3733319
|
0.08088
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_002168.4(IDH2):c.996C>T (p.Ser332=)
|
rs61737003
|
0.07655
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07445
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys)
|
rs16945474
|
0.07291
|
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser)
|
rs34544747
|
0.07202
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)
|
rs17851582
|
0.07010
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
NM_005984.5(SLC25A1):c.279T>C (p.Gly93=)
|
rs2070255
|
0.06611
|
NM_000169.3(GLA):c.-12G>A
|
rs3027585
|
0.06554
|
NM_004329.3(BMPR1A):c.431-26T>A
|
rs7920259
|
0.06507
|
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala)
|
rs11576415
|
0.06461
|
NM_000169.3(GLA):c.-10C>T
|
rs2071225
|
0.06441
|
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)
|
rs1801591
|
0.06414
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
NM_001909.5(CTSD):c.231C>T (p.Ala77=)
|
rs2230067
|
0.06127
|
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_000535.7(PMS2):c.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=)
|
rs11548670
|
0.05713
|
NM_001303.4(COX10):c.33C>T (p.Arg11=)
|
rs8076787
|
0.05496
|
NM_003172.4(SURF1):c.573C>G (p.Thr191=)
|
rs28715079
|
0.05492
|
NM_005138.3(SCO2):c.582C>T (p.Ser194=)
|
rs131811
|
0.05449
|
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=)
|
rs76336581
|
0.05399
|
NM_002168.4(IDH2):c.1050C>T (p.Thr350=)
|
rs11540478
|
0.05301
|
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile)
|
rs6676290
|
0.04986
|
NM_003172.4(SURF1):c.280T>C (p.Leu94=)
|
rs28615629
|
0.04975
|
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)
|
rs1805008
|
0.04851
|
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys)
|
rs1805007
|
0.04832
|
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)
|
rs3219484
|
0.04794
|
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)
|
rs8178990
|
0.04717
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NG_012820.2(ANK1):g.104117T>C
|
rs77173848
|
0.04675
|
NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg)
|
rs116482870
|
0.04448
|
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
|
rs1800315
|
0.04402
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_000391.4(TPP1):c.441A>G (p.Glu147=)
|
rs2555170
|
0.04313
|
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)
|
rs1800205
|
0.04289
|
NM_020247.5(COQ8A):c.255T>G (p.His85Gln)
|
rs2297411
|
0.04148
|
NM_002633.3(PGM1):c.1145-7C>G
|
rs72922609
|
0.04055
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)
|
rs112723255
|
0.04015
|
NM_000487.6(ARSA):c.1149C>T (p.Asp383=)
|
rs6151425
|
0.04013
|
NM_000169.2(GLA):c.-105A>G
|
rs3027583
|
0.04009
|
NM_000156.6(GAMT):c.571-6G>A
|
rs2074899
|
0.03927
|
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_003366.4(UQCRC2):c.548G>A (p.Arg183Gln)
|
rs4850
|
0.03828
|
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)
|
rs56126202
|
0.03793
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=)
|
rs141343442
|
0.03691
|
NM_006493.4(CLN5):c.173+8C>T
|
rs9565308
|
0.03653
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001953.5(TYMP):c.831G>A (p.Leu277=)
|
rs8141558
|
0.03453
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
NM_182760.4(SUMF1):c.445-22T>C
|
rs711634
|
0.03328
|
NM_014363.6(SACS):c.909A>G (p.Ala303=)
|
rs41315020
|
0.03313
|
NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg)
|
rs36012476
|
0.03290
|
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile)
|
rs59736804
|
0.03276
|
NM_006351.4(TIMM44):c.1114A>G (p.Ile372Val)
|
rs11542187
|
0.03212
|
NM_020745.4(AARS2):c.2188G>A (p.Val730Met)
|
rs35623954
|
0.03189
|
NM_006493.4(CLN5):c.1041T>C (p.Pro347=)
|
rs36038805
|
0.03060
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_002693.3(POLG):c.2958C>T (p.Tyr986=)
|
rs2307431
|
0.02985
|
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys)
|
rs28756988
|
0.02978
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_014363.6(SACS):c.1839G>A (p.Gln613=)
|
rs35840595
|
0.02863
|
NM_016292.3(TRAP1):c.2075G>A (p.Arg692His)
|
rs2791
|
0.02823
|
NM_002633.3(PGM1):c.1280+7C>T
|
rs72922610
|
0.02818
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=)
|
rs111670322
|
0.02768
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_005138.3(SCO2):c.327C>T (p.His109=)
|
rs75485962
|
0.02713
|
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_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys)
|
rs35227875
|
0.02686
|
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)
|
rs115532916
|
0.02662
|
NM_002087.4(GRN):c.384T>C (p.Asp128=)
|
rs25646
|
0.02616
|
NM_000455.5(STK11):c.816C>T (p.Tyr272=)
|
rs9282859
|
0.02603
|
NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg)
|
rs9943208
|
0.02564
|
NM_002857.4(PEX19):c.433-11G>T
|
rs41265791
|
0.02551
|
NM_006351.4(TIMM44):c.753C>G (p.Asn251Lys)
|
rs118048213
|
0.02546
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02528
|
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu)
|
rs141298312
|
0.02511
|
NM_000310.4(PPT1):c.837G>C (p.Gln279His)
|
rs72937434
|
0.02506
|
NM_152783.5(D2HGDH):c.292+9G>A
|
rs148813816
|
0.02496
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_022089.4(ATP13A2):c.3235+17G>A
|
rs56146840
|
0.02453
|
NM_002055.5(GFAP):c.*16G>A
|
rs113487550
|
0.02451
|
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser)
|
rs61756062
|
0.02444
|
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)
|
rs11539201
|
0.02438
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
NM_000151.4(G6PC1):c.432G>A (p.Pro144=)
|
rs161628
|
0.02402
|
NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys)
|
rs11538384
|
0.02355
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_020320.5(RARS2):c.991A>G (p.Ile331Val)
|
rs3757370
|
0.02330
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys)
|
rs74637005
|
0.02312
|
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)
|
rs1143650
|
0.02248
|
NM_024312.5(GNPTAB):c.1612+28T>C
|
rs74389509
|
0.02246
|
NM_024312.5(GNPTAB):c.3693+10A>T
|
rs76021817
|
0.02246
|
NM_015340.4(LARS2):c.972C>A (p.His324Gln)
|
rs71645922
|
0.02237
|
NM_198076.6(COX20):c.42+9G>A
|
rs192100928
|
0.02237
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu)
|
rs3810948
|
0.02150
|
NM_000144.5(FXN):c.-7G>A
|
rs145006100
|
0.02101
|
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)
|
rs2274516
|
0.02086
|
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val)
|
rs61732273
|
0.02073
|
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile)
|
rs112780453
|
0.02065
|
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln)
|
rs17313469
|
0.02052
|
NM_016098.4(MPC1):c.106C>A (p.Leu36Ile)
|
rs11557064
|
0.02030
|
NM_000179.3(MSH6):c.2253T>C (p.Asn751=)
|
rs2020913
|
0.02003
|
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser)
|
rs116440799
|
0.01995
|
NM_012434.5(SLC17A5):c.1111+7G>A
|
rs146729568
|
0.01982
|
NM_001040108.2(MLH3):c.666G>A (p.Lys222=)
|
rs28756980
|
0.01977
|
NM_001303.4(COX10):c.83C>T (p.Thr28Ile)
|
rs16948978
|
0.01976
|
NM_000289.6(PFKM):c.306C>T (p.Ala102=)
|
rs11552507
|
0.01954
|
NM_001040108.2(MLH3):c.444G>C (p.Val148=)
|
rs11556091
|
0.01944
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_001040108.2(MLH3):c.4242+13C>G
|
rs77157930
|
0.01890
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000038.6(APC):c.220+124C>G
|
rs76552546
|
0.01839
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=)
|
rs77878573
|
0.01828
|
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met)
|
rs34979001
|
0.01822
|
NM_004813.4(PEX16):c.307G>A (p.Val103Met)
|
rs11553094
|
0.01821
|
NM_001256071.3(RNF213):c.14072A>G (p.His4691Arg)
|
rs12944088
|
0.01799
|
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr)
|
rs144668507
|
0.01790
|
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln)
|
rs78651634
|
0.01784
|
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)
|
rs28730701
|
0.01764
|
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys)
|
rs16948986
|
0.01758
|
NM_003630.3(PEX3):c.523+25A>G
|
rs13203340
|
0.01751
|
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser)
|
rs78558135
|
0.01732
|
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)
|
rs34973695
|
0.01729
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=)
|
rs117002283
|
0.01707
|
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)
|
rs2229995
|
0.01693
|
NM_005002.5(NDUFA9):c.881C>T (p.Pro294Leu)
|
rs34076756
|
0.01666
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NG_012820.2(ANK1):g.104072G>A
|
rs183894680
|
0.01664
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01638
|
NM_000144.5(FXN):c.226A>G (p.Met76Val)
|
rs59907886
|
0.01619
|
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp)
|
rs35289681
|
0.01618
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_000251.3(MSH2):c.1386+104C>T
|
rs17224444
|
0.01603
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_020549.5(CHAT):c.903T>C (p.Pro301=)
|
rs113897064
|
0.01548
|
NM_080916.3(DGUOK):c.423G>A (p.Glu141=)
|
rs1804599
|
0.01535
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
NM_002633.3(PGM1):c.1500C>T (p.Ile500=)
|
rs61737416
|
0.01523
|
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile)
|
rs75826658
|
0.01517
|
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)
|
rs62288347
|
0.01504
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_018060.4(IARS2):c.23G>T (p.Arg8Leu)
|
rs149324758
|
0.01481
|
NM_002693.3(POLG):c.128A>G (p.Gln43Arg)
|
rs28567406
|
0.01478
|
NM_020533.3(MCOLN1):c.1360-13G>A
|
rs2305888
|
0.01477
|
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
|
rs74874677
|
0.01472
|
NM_002778.4(PSAP):c.1006-21C>T
|
rs56214505
|
0.01471
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg)
|
rs35220041
|
0.01440
|
NM_000308.4(CTSA):c.53_54del (p.Leu18fs)
|
rs562182818
|
0.01435
|
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)
|
rs7418956
|
0.01431
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)
|
rs61748814
|
0.01397
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_000293.3(PHKB):c.318T>C (p.Asp106=)
|
rs17738933
|
0.01382
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val)
|
rs2230723
|
0.01376
|
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln)
|
rs4494951
|
0.01364
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met)
|
rs9913621
|
0.01361
|
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln)
|
rs28756981
|
0.01348
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_153033.5(KCTD7):c.315-24C>T
|
rs75672175
|
0.01333
|
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)
|
rs41273523
|
0.01332
|
NM_153033.5(KCTD7):c.654C>T (p.Asp218=)
|
rs117194263
|
0.01331
|
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser)
|
rs34230288
|
0.01330
|
NM_000642.3(AGL):c.3849T>C (p.Ala1283=)
|
rs28730706
|
0.01312
|
NM_020320.5(RARS2):c.63A>G (p.Pro21=)
|
rs7748563
|
0.01309
|
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn)
|
rs8178991
|
0.01308
|
NM_000249.4(MLH1):c.1039-27T>A
|
rs9862158
|
0.01307
|
NM_000263.4(NAGLU):c.764+19C>G
|
rs77738617
|
0.01306
|
NM_001142864.4(PIEZO1):c.2992-18G>A
|
rs190814667
|
0.01297
|
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)
|
rs7958709
|
0.01289
|
NM_001370595.2(COA8):c.351A>G (p.Leu117=)
|
rs71417867
|
0.01287
|
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_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_020247.5(COQ8A):c.63G>A (p.Ala21=)
|
rs11549709
|
0.01280
|
NM_000642.3(AGL):c.3260-19G>A
|
rs140333425
|
0.01279
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01275
|
NM_001127649.3(PEX26):c.*10C>T
|
rs117472525
|
0.01244
|
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)
|
rs33978901
|
0.01237
|
NM_024996.7(GFM1):c.1601+9G>C
|
rs77186707
|
0.01234
|
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)
|
rs115977487
|
0.01228
|
NM_198834.3(ACACA):c.2082-10_2082-8dup
|
rs147020148
|
0.01218
|
NM_005609.4(PYGM):c.1569C>G (p.Leu523=)
|
rs114138772
|
0.01217
|
NM_000436.4(OXCT1):c.480G>T (p.Gly160=)
|
rs78432029
|
0.01211
|
NM_002693.3(POLG):c.2254C>T (p.Leu752=)
|
rs41564016
|
0.01204
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_000271.5(NPC1):c.3246-20G>A
|
rs6507717
|
0.01199
|
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)
|
rs76637913
|
0.01192
|
NM_007208.4(MRPL3):c.782T>C (p.Met261Thr)
|
rs2291381
|
0.01180
|
NM_000308.4(CTSA):c.51del (p.Leu18fs)
|
rs564815597
|
0.01174
|
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser)
|
rs17883718
|
0.01172
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
|
rs45562031
|
0.01150
|
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=)
|
rs4494798
|
0.01150
|
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=)
|
rs115275192
|
0.01140
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
NM_018060.4(IARS2):c.1564A>G (p.Ile522Val)
|
rs11800305
|
0.01131
|
NM_002386.4(MC1R):c.880G>C (p.Asp294His)
|
rs1805009
|
0.01121
|
NM_004046.6(ATP5F1A):c.667A>G (p.Ile223Val)
|
rs77958705
|
0.01119
|
NM_003705.5(SLC25A12):c.728G>A (p.Arg243Lys)
|
rs35881803
|
0.01111
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)
|
rs55958233
|
0.01103
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
NM_020320.5(RARS2):c.606C>T (p.Leu202=)
|
rs75794097
|
0.01095
|
NM_006294.5(UQCRB):c.195G>A (p.Arg65=)
|
rs11558865
|
0.01093
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)
|
rs77290575
|
0.01088
|
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)
|
rs11098943
|
0.01088
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_001386393.1(PANK2):c.298+24C>A
|
rs201038465
|
0.01080
|
NM_001271696.3(ABCB7):c.246+1G>A
|
rs61323727
|
0.01077
|
NM_004565.3(PEX14):c.768G>A (p.Val256=)
|
rs36083022
|
0.01070
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_000528.4(MAN2B1):c.2436+17C>T
|
rs148420017
|
0.01054
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_017866.6(TMEM70):c.580G>A (p.Val194Met)
|
rs77410280
|
0.01045
|
NM_022089.4(ATP13A2):c.2763-16G>A
|
rs114407349
|
0.01044
|
NM_001271696.3(ABCB7):c.1320T>C (p.Asp440=)
|
rs45598734
|
0.01040
|
NM_003172.4(SURF1):c.543C>T (p.Phe181=)
|
rs62637580
|
0.01036
|
NM_003659.4(AGPS):c.147C>T (p.Pro49=)
|
rs34442536
|
0.01033
|
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr)
|
rs34270473
|
0.01029
|
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)
|
rs35523678
|
0.01028
|
NM_005908.4(MANBA):c.178-8A>G
|
rs113584126
|
0.01028
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
NM_001365276.2(TNXB):c.12469+2T>C
|
rs545719209
|
0.01022
|
NM_000512.5(GALNS):c.1002+17C>T
|
rs78494153
|
0.01020
|
NM_022089.4(ATP13A2):c.2762+29G>A
|
rs141447403
|
0.01020
|
NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile)
|
rs188718836
|
0.01018
|
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=)
|
rs72683923
|
0.01007
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)
|
rs146917730
|
0.01006
|
NM_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
NM_000038.6(APC):c.1627-93A>C
|
rs115157960
|
0.00999
|
NM_000136.3(FANCC):c.-155A>C
|
rs549658720
|
0.00998
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00997
|
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile)
|
rs17102999
|
0.00989
|
NM_000108.5(DLD):c.249T>C (p.Val83=)
|
rs2228664
|
0.00985
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00982
|
NM_000546.6(TP53):c.108G>A (p.Pro36=)
|
rs1800370
|
0.00974
|
NM_016203.4(PRKAG2):c.*3G>A
|
rs113234987
|
0.00973
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=)
|
rs10410289
|
0.00964
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_002637.4(PHKA1):c.538-25T>C
|
rs149014464
|
0.00963
|
NM_000157.3(GBA1):c.-203A>G
|
rs188978150
|
0.00961
|
NM_001271696.3(ABCB7):c.945-7C>T
|
rs5937938
|
0.00961
|
NM_005666.4(CFHR2):c.595G>T (p.Glu199Ter)
|
rs41257904
|
0.00960
|
NM_001040108.2(MLH3):c.3570+28A>T
|
rs67547819
|
0.00949
|
NM_005138.3(SCO2):c.776C>T (p.Ala259Val)
|
rs8139305
|
0.00949
|
NM_000108.5(DLD):c.777A>G (p.Lys259=)
|
rs1065762
|
0.00944
|
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile)
|
rs114490852
|
0.00944
|
NM_002076.4(GNS):c.21C>G (p.Ala7=)
|
rs61743823
|
0.00937
|
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg)
|
rs7116126
|
0.00931
|
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala)
|
rs73346297
|
0.00930
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
NM_020686.6(ABAT):c.603+3G>A
|
rs41312254
|
0.00925
|
NM_000203.5(IDUA):c.299+6C>T
|
rs147498923
|
0.00924
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
NM_000249.4(MLH1):c.1039-26T>A
|
rs1360955428
|
0.00920
|
NM_000108.5(DLD):c.1422A>C (p.Gly474=)
|
rs34453495
|
0.00918
|
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=)
|
rs149101873
|
0.00911
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys)
|
rs35629489
|
0.00908
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg)
|
rs114829239
|
0.00905
|
NM_000374.5(UROD):c.*3G>A
|
rs74349352
|
0.00902
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
NM_000391.4(TPP1):c.509-25C>T
|
rs116069009
|
0.00892
|
UGT1A1*6
|
rs4148323
|
0.00891
|
NM_000391.4(TPP1):c.1266+28G>A
|
rs115795247
|
0.00890
|
NM_006351.4(TIMM44):c.184G>A (p.Gly62Ser)
|
rs144317041
|
0.00890
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_000391.4(TPP1):c.1146-24C>A
|
rs13377445
|
0.00888
|
NM_000038.6(APC):c.422+75T>C
|
rs112114081
|
0.00876
|
NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile)
|
rs139105452
|
0.00876
|
NM_000289.6(PFKM):c.747+24T>G
|
rs149600978
|
0.00875
|
NM_004035.7(ACOX1):c.921G>A (p.Arg307=)
|
rs79677613
|
0.00869
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln)
|
rs115799619
|
0.00868
|
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)
|
rs138055271
|
0.00862
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_000512.5(GALNS):c.723C>T (p.Ala241=)
|
rs117053987
|
0.00855
|
NM_000293.3(PHKB):c.2244C>G (p.Leu748=)
|
rs34717357
|
0.00851
|
NM_000037.4(ANK1):c.5544+91C>T
|
rs72638959
|
0.00849
|
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr)
|
rs34225615
|
0.00845
|
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly)
|
rs4675887
|
0.00845
|
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)
|
rs141087261
|
0.00842
|
NM_001195248.2(APTX):c.318C>T (p.Asn106=)
|
rs79254654
|
0.00842
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287
|
0.00833
|
NM_000391.4(TPP1):c.1076-18A>G
|
rs78676565
|
0.00826
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_001386393.1(PANK2):c.189C>G (p.Pro63=)
|
rs71647829
|
0.00808
|
NM_213595.4(ISCU):c.51G>A (p.Leu17=)
|
rs112552261
|
0.00804
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_000512.5(GALNS):c.899-4C>G
|
rs143793386
|
0.00779
|
NM_000642.3(AGL):c.2802A>C (p.Ala934=)
|
rs34230588
|
0.00775
|
NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser)
|
rs78302129
|
0.00774
|
NM_002113.3(CFHR1):c.790+1G>A
|
rs140799744
|
0.00774
|
NM_006363.6(SEC23B):c.1743+168A>G
|
rs111951711
|
0.00771
|
NM_002693.3(POLG):c.3597C>A (p.Thr1199=)
|
rs2307443
|
0.00770
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp)
|
rs12918964
|
0.00765
|
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter)
|
rs143140599
|
0.00764
|
NM_003793.4(CTSF):c.1368C>T (p.Asp456=)
|
rs148155987
|
0.00759
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
NM_003793.4(CTSF):c.939G>A (p.Gly313=)
|
rs114727660
|
0.00758
|
NM_130837.3(OPA1):c.2961C>T (p.Arg987=)
|
rs35540805
|
0.00758
|
NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro)
|
rs3734676
|
0.00757
|
NM_020381.4(PDSS2):c.7T>C (p.Phe3Leu)
|
rs3734675
|
0.00756
|
NM_005138.3(SCO2):c.763C>A (p.Arg255=)
|
rs112793292
|
0.00755
|
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=)
|
rs17850540
|
0.00755
|
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys)
|
rs35501326
|
0.00753
|
NM_130837.3(OPA1):c.2049A>G (p.Val683=)
|
rs73069703
|
0.00753
|
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met)
|
rs139051768
|
0.00749
|
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)
|
rs61745086
|
0.00748
|
NM_000310.4(PPT1):c.536+25T>C
|
rs16826876
|
0.00744
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_006432.5(NPC2):c.442-4A>C
|
rs114950106
|
0.00742
|
NM_016292.3(TRAP1):c.1406G>A (p.Arg469His)
|
rs144787542
|
0.00740
|
NM_000552.5(VWF):c.2510C>A (p.Ala837Asp)
|
rs75645183
|
0.00739
|
NM_020191.4(MRPS22):c.201A>G (p.Lys67=)
|
rs11556243
|
0.00739
|
NM_022168.4(IFIH1):c.1641+1G>C
|
rs35337543
|
0.00728
|
NM_001303.4(COX10):c.682C>T (p.Arg228Cys)
|
rs114521946
|
0.00727
|
NM_004085.4(TIMM8A):c.-6C>T
|
rs180806413
|
0.00726
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
NM_020686.6(ABAT):c.1269+4A>C
|
rs183947905
|
0.00716
|
NM_000512.5(GALNS):c.775C>A (p.Arg259=)
|
rs61742258
|
0.00707
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
NM_000038.6(APC):c.4326T>A (p.Pro1442=)
|
rs67622085
|
0.00705
|
NM_000041.4(APOE):c.487C>T (p.Arg163Cys)
|
rs769455
|
0.00701
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
NM_016335.6(PRODH):c.650G>A (p.Arg217His)
|
rs148375080
|
0.00695
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
NM_025152.3(NUBPL):c.-1C>T
|
rs45468395
|
0.00691
|
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)
|
rs61757217
|
0.00689
|
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_002979.5(SCP2):c.1224G>A (p.Pro408=)
|
rs80253221
|
0.00680
|
NM_000035.4(ALDOB):c.-214G>A
|
rs185972191
|
0.00678
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
NM_003465.3(CHIT1):c.1350C>T (p.Cys450=)
|
rs73066396
|
0.00675
|
NM_000153.4(GALC):c.1302C>T (p.Ser434=)
|
rs3213918
|
0.00674
|
NM_000637.5(GSR):c.595G>A (p.Ala199Thr)
|
rs141805635
|
0.00672
|
NM_001193313.2(SUGCT):c.1226C>T (p.Thr409Met)
|
rs192063213
|
0.00672
|
NM_001916.5(CYC1):c.960A>C (p.Ala320=)
|
rs35387134
|
0.00671
|
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)
|
rs2634197
|
0.00668
|
NM_000108.5(DLD):c.34G>A (p.Ala12Thr)
|
rs75077312
|
0.00666
|
NM_004937.3(CTNS):c.108C>T (p.Asn36=)
|
rs117404824
|
0.00664
|
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)
|
rs143732206
|
0.00657
|
NM_018127.7(ELAC2):c.368-4T>A
|
rs139778647
|
0.00657
|
NM_000059.4(BRCA2):c.5704G>A
|
rs4987048
|
0.00655
|
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp)
|
rs79732150
|
0.00649
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
NM_000179.3(MSH6):c.*85T>A
|
rs2020906
|
0.00645
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
NM_002055.5(GFAP):c.738G>A (p.Ala246=)
|
rs147404772
|
0.00636
|
NM_004614.5(TK2):c.94C>T (p.Arg32Trp)
|
rs200121712
|
0.00636
|
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)
|
rs146578303
|
0.00633
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
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_001083614.2(EARS2):c.402C>T (p.Thr134=)
|
rs116657756
|
0.00624
|
NM_025243.4(SLC19A3):c.309G>A (p.Val103=)
|
rs142837989
|
0.00618
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_032520.5(GNPTG):c.255G>A (p.Pro85=)
|
rs76594024
|
0.00606
|
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg)
|
rs34830861
|
0.00599
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_017827.4(SARS2):c.248C>T (p.Ser83Leu)
|
rs34050897
|
0.00595
|
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=)
|
rs146292053
|
0.00593
|
NM_000179.3(MSH6):c.3557-40T>A
|
rs189436849
|
0.00587
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_000271.5(NPC1):c.1554-1016C>T
|
rs145998218
|
0.00584
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
NM_006012.4(CLPP):c.368-8G>A
|
rs143053584
|
0.00583
|
NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp)
|
rs140943896
|
0.00583
|
NM_000249.4(MLH1):c.589-15C>T
|
rs55658850
|
0.00582
|
NM_130837.3(OPA1):c.420G>T (p.Val140=)
|
rs35801538
|
0.00577
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_006351.4(TIMM44):c.69A>G (p.Gln23=)
|
rs35992331
|
0.00569
|
NM_020442.6(VARS2):c.423G>A (p.Met141Ile)
|
rs141408930
|
0.00569
|
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)
|
rs116621885
|
0.00569
|
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)
|
rs34778324
|
0.00568
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_004937.3(CTNS):c.853-28C>T
|
rs78671385
|
0.00563
|
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=)
|
rs36093416
|
0.00563
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
NM_025150.5(TARS2):c.1034A>G (p.His345Arg)
|
rs115390773
|
0.00560
|
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu)
|
rs1805006
|
0.00553
|
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=)
|
rs77484245
|
0.00552
|
NM_004208.4(AIFM1):c.1833T>C (p.His611=)
|
rs73556209
|
0.00551
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_002087.4(GRN):c.264+7G>A
|
rs60100877
|
0.00548
|
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)
|
rs2307450
|
0.00547
|
NM_000158.4(GBE1):c.143+11A>C
|
rs145918282
|
0.00545
|
NM_000085.5(CLCNKB):c.1297+5G>T
|
rs35351345
|
0.00544
|
NM_153638.4(PANK2):c.276G>A (p.Arg92=)
|
rs142832849
|
0.00544
|
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)
|
rs57474185
|
0.00543
|
NM_004563.4(PCK2):c.190G>A (p.Asp64Asn)
|
rs10132601
|
0.00541
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
NM_016292.3(TRAP1):c.757A>G (p.Ile253Val)
|
rs113476582
|
0.00536
|
NM_000310.4(PPT1):c.363-18C>G
|
rs143235344
|
0.00531
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_000290.4(PGAM2):c.366G>A (p.Pro122=)
|
rs143830182
|
0.00529
|
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)
|
rs78239814
|
0.00525
|
NM_002617.4(PEX10):c.6C>G (p.Ala2=)
|
rs112471479
|
0.00523
|
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)
|
rs62073570
|
0.00522
|
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)
|
rs16980929
|
0.00520
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_000037.4(ANK1):c.-204C>G
|
rs117184692
|
0.00514
|
NM_022445.4(TPK1):c.98G>A (p.Arg33His)
|
rs77358162
|
0.00512
|
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln)
|
rs117566084
|
0.00508
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=)
|
rs146111948
|
0.00507
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=)
|
rs61744041
|
0.00506
|
NM_018109.4(MTPAP):c.158-9C>T
|
rs139217290
|
0.00503
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_001040108.2(MLH3):c.3987+15C>T
|
rs117251698
|
0.00496
|
NM_000251.3(MSH2):c.984C>T (p.Ala328=)
|
rs4987189
|
0.00495
|
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr)
|
rs45441199
|
0.00494
|
NM_001909.5(CTSD):c.828-19A>C
|
rs200047861
|
0.00494
|
NM_002055.5(GFAP):c.720G>T (p.Thr240=)
|
rs2229012
|
0.00494
|
NM_014861.4(ATP2C2):c.304G>A (p.Val102Met)
|
rs78887288
|
0.00494
|
NM_018122.5(DARS2):c.228-21_228-20insC
|
rs367543010
|
0.00491
|
NM_000535.7(PMS2):c.2445+30A>G
|
rs549704870
|
0.00490
|
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)
|
rs137852860
|
0.00490
|
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_020247.5(COQ8A):c.1185C>T (p.Ile395=)
|
rs17849927
|
0.00488
|
NM_024876.4(COQ8B):c.381G>A (p.Gly127=)
|
rs55895642
|
0.00488
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
NM_004614.5(TK2):c.231+10C>T
|
rs187517309
|
0.00486
|
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly)
|
rs113722817
|
0.00485
|
NM_016292.3(TRAP1):c.1330T>A (p.Tyr444Asn)
|
rs61756351
|
0.00483
|
NM_001371596.2(MFSD8):c.199-8T>C
|
rs112721309
|
0.00481
|
NM_004563.4(PCK2):c.747C>T (p.Phe249=)
|
rs149974910
|
0.00478
|
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr)
|
rs147727753
|
0.00476
|
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)
|
rs144125742
|
0.00475
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp)
|
rs201829917
|
0.00472
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)
|
rs62346982
|
0.00470
|
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser)
|
rs74882337
|
0.00469
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp)
|
rs147332381
|
0.00464
|
NM_012062.5(DNM1L):c.966C>T (p.Tyr322=)
|
rs118169466
|
0.00464
|
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val)
|
rs77539990
|
0.00463
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_006567.5(FARS2):c.737C>T (p.Thr246Met)
|
rs116567033
|
0.00455
|
NM_015465.5(GEMIN5):c.3046C>T (p.Arg1016Cys)
|
rs61749643
|
0.00455
|
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)
|
rs75029862
|
0.00451
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His)
|
rs114142266
|
0.00447
|
NM_001374504.1(TMPRSS6):c.2105G>T (p.Arg702Leu)
|
rs115310908
|
0.00447
|
NM_001386393.1(PANK2):c.905+22C>T
|
rs71647841
|
0.00446
|
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)
|
rs187783545
|
0.00443
|
NM_012254.3(SLC27A5):c.1616T>C (p.Met539Thr)
|
rs147464959
|
0.00437
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)
|
rs138732899
|
0.00433
|
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)
|
rs142993240
|
0.00430
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly)
|
rs146136907
|
0.00428
|
NM_001367805.3(KIF23):c.293A>G (p.Asn98Ser)
|
rs61751120
|
0.00427
|
NM_003465.3(CHIT1):c.1161T>C (p.Leu387=)
|
rs73066400
|
0.00427
|
NM_012208.4(HARS2):c.868C>T (p.Leu290=)
|
rs73273316
|
0.00427
|
NM_016098.4(MPC1):c.30G>A (p.Ala10=)
|
rs79498685
|
0.00426
|
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)
|
rs34133563
|
0.00424
|
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp)
|
rs41273533
|
0.00424
|
NM_005763.4(AASS):c.2459A>G (p.Lys820Arg)
|
rs73441002
|
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_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln)
|
rs202103485
|
0.00418
|
NM_000249.4(MLH1):c.453+25A>G
|
rs4647246
|
0.00414
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)
|
rs200970763
|
0.00414
|
NM_000490.5(AVP):c.230A>T (p.Glu77Val)
|
rs193002694
|
0.00413
|
NM_002101.5(GYPC):c.248A>G (p.Tyr83Cys)
|
rs115178969
|
0.00413
|
NM_000038.6(APC):c.933+30A>G
|
rs145211300
|
0.00412
|
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met)
|
rs149660059
|
0.00412
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
NM_198834.3(ACACA):c.547C>A (p.Arg183=)
|
rs111441513
|
0.00408
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
NM_016013.4(NDUFAF1):c.-6T>G
|
rs180730324
|
0.00404
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000552.5(VWF):c.5170+10C>T
|
rs61750601
|
0.00400
|
NM_001916.5(CYC1):c.227T>C (p.Met76Thr)
|
rs144257411
|
0.00400
|
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=)
|
rs142420160
|
0.00400
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_001698.3(AUH):c.927A>G (p.Glu309=)
|
rs78739693
|
0.00399
|
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)
|
rs2233218
|
0.00399
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_000249.4(MLH1):c.307-29C>A
|
rs139620056
|
0.00398
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00398
|
NM_004655.4(AXIN2):c.1410C>T (p.His470=)
|
rs149483825
|
0.00394
|
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)
|
rs141245482
|
0.00392
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
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_000392.5(ABCC2):c.2009T>C (p.Ile670Thr)
|
rs17222632
|
0.00388
|
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
NM_002361.4(MAG):c.452C>T (p.Ala151Val)
|
rs144553163
|
0.00387
|
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)
|
rs61752478
|
0.00384
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln)
|
rs113448164
|
0.00384
|
NM_000642.3(AGL):c.3384G>A (p.Ala1128=)
|
rs149393587
|
0.00383
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_000290.4(PGAM2):c.375G>A (p.Pro125=)
|
rs145985559
|
0.00382
|
NM_000038.6(APC):c.729+23T>C
|
rs75111475
|
0.00381
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_001385012.1(NBEA):c.7039A>G (p.Ile2347Val)
|
rs189755961
|
0.00378
|
NM_014324.6(AMACR):c.837G>A (p.Thr279=)
|
rs35655488
|
0.00378
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_000642.3(AGL):c.2883A>G (p.Arg961=)
|
rs113625417
|
0.00375
|
NM_015697.9(COQ2):c.30G>A (p.Arg10=)
|
rs183012002
|
0.00375
|
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
|
rs2723669
|
0.00374
|
NM_000199.5(SGSH):c.249+25G>T
|
rs200104349
|
0.00372
|
NM_000190.4(HMBS):c.-28A>C
|
rs201349602
|
0.00371
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu)
|
rs61733901
|
0.00369
|
NM_025215.6(PUS1):c.364C>A (p.Arg122=)
|
rs142954643
|
0.00369
|
NM_001080449.3(DNA2):c.2153G>T (p.Cys718Phe)
|
rs147096750
|
0.00367
|
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)
|
rs116466258
|
0.00367
|
NM_014297.5(ETHE1):c.227-9C>G
|
rs199921503
|
0.00367
|
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)
|
rs35744605
|
0.00367
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=)
|
rs76767223
|
0.00362
|
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro)
|
rs558084375
|
0.00362
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_004070.4(CLCNKA):c.1612C>T (p.Arg538Cys)
|
rs139564196
|
0.00359
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
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_000312.4(PROC):c.536-6C>T
|
rs148108718
|
0.00357
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)
|
rs2227944
|
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_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)
|
rs25409
|
0.00354
|
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
|
rs78042826
|
0.00353
|
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)
|
rs61751302
|
0.00352
|
NM_024876.4(COQ8B):c.187C>T (p.Arg63Trp)
|
rs113358395
|
0.00351
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp)
|
rs34767818
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00348
|
NM_000504.4(F10):c.424G>A (p.Glu142Lys)
|
rs61753266
|
0.00347
|
NM_001098816.3(TENM4):c.2804C>G (p.Pro935Arg)
|
rs141706152
|
0.00347
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu)
|
rs35219594
|
0.00344
|
NM_020442.6(VARS2):c.607G>A (p.Gly203Arg)
|
rs73430135
|
0.00342
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=)
|
rs144180074
|
0.00340
|
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_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_004357.5(CD151):c.252G>T (p.Lys84Asn)
|
rs116211118
|
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_006363.6(SEC23B):c.221+76A>G
|
rs183784857
|
0.00333
|
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr)
|
rs149042427
|
0.00332
|
NM_000642.3(AGL):c.3260-20T>C
|
rs17121560
|
0.00332
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_020442.6(VARS2):c.876G>A (p.Val292=)
|
rs147636694
|
0.00332
|
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)
|
rs138925964
|
0.00331
|
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)
|
rs142672241
|
0.00331
|
NC_000012.12:g.6867505T>G
|
rs1800202
|
0.00329
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)
|
rs149613968
|
0.00328
|
NM_006351.4(TIMM44):c.138A>G (p.Pro46=)
|
rs145509783
|
0.00327
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_024884.3(L2HGDH):c.6G>T (p.Val2=)
|
rs113626637
|
0.00324
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_025215.6(PUS1):c.999G>C (p.Leu333=)
|
rs150359622
|
0.00323
|
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=)
|
rs147210645
|
0.00323
|
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu)
|
rs142383658
|
0.00320
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)
|
rs151166497
|
0.00319
|
NM_020686.6(ABAT):c.817-6A>G
|
rs140106845
|
0.00319
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_000436.4(OXCT1):c.733-3T>C
|
rs77000151
|
0.00315
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_002979.5(SCP2):c.675-6T>C
|
rs115815213
|
0.00313
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_004553.6(NDUFS6):c.96C>A (p.Val32=)
|
rs140619622
|
0.00311
|
NM_138477.4(CDAN1):c.2263-5G>A
|
rs190802841
|
0.00311
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
NM_002858.4(ABCD3):c.1356A>G (p.Gly452=)
|
rs147293586
|
0.00308
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val)
|
rs202082304
|
0.00305
|
NM_000037.4(ANK1):c.5544+46G>A
|
rs114905632
|
0.00304
|
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)
|
rs13336566
|
0.00303
|
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser)
|
rs148679749
|
0.00303
|
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)
|
rs116827211
|
0.00302
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=)
|
rs142023670
|
0.00298
|
NM_198834.3(ACACA):c.6924G>A (p.Ala2308=)
|
rs141608509
|
0.00298
|
NC_000005.10:g.177409584C>G
|
rs41309132
|
0.00297
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_000396.4(CTSK):c.675A>G (p.Arg225=)
|
rs41271965
|
0.00297
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_014639.4(SKIC3):c.1765G>A (p.Ala589Thr)
|
rs147622709
|
0.00295
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
|
rs147390654
|
0.00294
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
NM_002488.5(NDUFA2):c.129G>A (p.Glu43=)
|
rs73271536
|
0.00293
|
NM_001098816.3(TENM4):c.1453C>T (p.Pro485Ser)
|
rs191549326
|
0.00292
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)
|
rs142708991
|
0.00290
|
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)
|
rs141447598
|
0.00289
|
NM_022436.3(ABCG5):c.1763-7T>G
|
rs114780578
|
0.00288
|
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)
|
rs149451729
|
0.00287
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00286
|
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)
|
rs45594632
|
0.00285
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala)
|
rs61733629
|
0.00285
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_022916.6(VPS33A):c.1318C>T (p.His440Tyr)
|
rs143287106
|
0.00284
|
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)
|
rs2799068
|
0.00284
|
NM_016363.5(GP6):c.307C>G (p.Leu103Val)
|
rs28969501
|
0.00283
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
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_025193.4(HSD3B7):c.103C>G (p.Arg35Gly)
|
rs150464212
|
0.00282
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
NM_005359.6(SMAD4):c.249+24A>G
|
rs77389132
|
0.00278
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)
|
rs143313688
|
0.00277
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
NM_003172.4(SURF1):c.54+10G>A
|
rs587598397
|
0.00276
|
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
|
rs116920018
|
0.00276
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile)
|
rs61743028
|
0.00274
|
NM_000301.5(PLG):c.782G>A (p.Arg261His)
|
rs4252187
|
0.00273
|
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser)
|
rs141587158
|
0.00273
|
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)
|
rs75450131
|
0.00273
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln)
|
rs147584361
|
0.00272
|
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=)
|
rs114168492
|
0.00272
|
NM_001011719.2(ARSH):c.1072C>T (p.Arg358Cys)
|
rs146832237
|
0.00271
|
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)
|
rs138198461
|
0.00271
|
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_020442.6(VARS2):c.2293G>A (p.Val765Met)
|
rs55865499
|
0.00270
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
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_001114134.2(EPB42):c.256G>T (p.Asp86Tyr)
|
rs113768282
|
0.00268
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
NM_016035.5(COQ4):c.424G>A (p.Ala142Thr)
|
rs34043652
|
0.00268
|
NM_000292.3(PHKA2):c.3282+13G>A
|
rs200925279
|
0.00267
|
NM_198576.4(AGRN):c.800C>T (p.Thr267Met)
|
rs566673314
|
0.00265
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)
|
rs28362286
|
0.00262
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr)
|
rs112332762
|
0.00260
|
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)
|
rs61752327
|
0.00260
|
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly)
|
rs149441716
|
0.00259
|
NM_004937.3(CTNS):c.462-7C>A
|
rs189632527
|
0.00259
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)
|
rs34348416
|
0.00257
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_139242.4(MTFMT):c.186G>C (p.Ala62=)
|
rs183891284
|
0.00256
|
NM_000038.6(APC):c.3264G>A (p.Lys1088=)
|
rs114774495
|
0.00255
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)
|
rs1800576
|
0.00255
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_007315.4(STAT1):c.796G>A (p.Val266Ile)
|
rs41473544
|
0.00251
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)
|
rs190921137
|
0.00248
|
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)
|
rs61730399
|
0.00247
|
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)
|
rs146573578
|
0.00247
|
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)
|
rs34096980
|
0.00245
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
NM_006214.4(PHYH):c.717C>T (p.Tyr239=)
|
rs142720126
|
0.00243
|
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_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
|
rs35689779
|
0.00239
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
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_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys)
|
rs145762575
|
0.00235
|
NM_138425.4(C12orf57):c.86C>T (p.Ala29Val)
|
rs139938808
|
0.00234
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln)
|
rs74358901
|
0.00232
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
NM_002168.4(IDH2):c.23T>C (p.Val8Ala)
|
rs369445642
|
0.00231
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_017866.6(TMEM70):c.211-6C>T
|
rs113669789
|
0.00230
|
NM_021023.6(CFHR3):c.613+2T>C
|
rs138839071
|
0.00230
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_001363.5(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr)
|
rs140796438
|
0.00229
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_004070.4(CLCNKA):c.969-7C>G
|
rs201309731
|
0.00227
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_022089.4(ATP13A2):c.1195+9C>T
|
rs117758987
|
0.00227
|
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr)
|
rs11569541
|
0.00226
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys)
|
rs144035770
|
0.00225
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
NM_003465.3(CHIT1):c.258-6T>C
|
rs184235051
|
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_007315.4(STAT1):c.793A>G (p.Ile265Val)
|
rs148775168
|
0.00223
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr)
|
rs146685901
|
0.00223
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_001953.5(TYMP):c.735G>A (p.Gln245=)
|
rs139223629
|
0.00222
|
NM_004482.4(GALNT3):c.901G>A (p.Val301Ile)
|
rs143647583
|
0.00222
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_001303.4(COX10):c.929-7C>T
|
rs62052075
|
0.00220
|
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr)
|
rs55724159
|
0.00220
|
NM_024589.3(ROGDI):c.625C>G (p.Leu209Val)
|
rs144866271
|
0.00220
|
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)
|
rs36100288
|
0.00220
|
NM_004972.4(JAK2):c.3323A>G (p.Asn1108Ser)
|
rs142269166
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)
|
rs117880912
|
0.00217
|
NM_000925.4(PDHB):c.132T>C (p.Asp44=)
|
rs11542399
|
0.00216
|
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)
|
rs140639805
|
0.00216
|
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)
|
rs138872455
|
0.00215
|
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)
|
rs72653756
|
0.00214
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
NM_000466.3(PEX1):c.473-3C>T
|
rs150576000
|
0.00213
|
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)
|
rs35765535
|
0.00213
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
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_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00211
|
NM_001367805.3(KIF23):c.274G>C (p.Val92Leu)
|
rs137922672
|
0.00211
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
NM_020549.5(CHAT):c.438C>T (p.Tyr146=)
|
rs61731734
|
0.00210
|
NM_020745.4(AARS2):c.2253G>A (p.Gly751=)
|
rs78397386
|
0.00210
|
NM_138477.4(CDAN1):c.3450+17A>G
|
rs141626745
|
0.00210
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)
|
rs151129325
|
0.00207
|
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)
|
rs143456757
|
0.00207
|
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)
|
rs7437875
|
0.00206
|
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)
|
rs199705951
|
0.00206
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)
|
rs150278938
|
0.00205
|
NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val)
|
rs145619075
|
0.00205
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)
|
rs148372053
|
0.00204
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_000175.5(GPI):c.907A>C (p.Met303Leu)
|
rs143733383
|
0.00202
|
NM_016360.4(TACO1):c.498T>C (p.His166=)
|
rs17549732
|
0.00202
|
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly)
|
rs147111211
|
0.00202
|
NM_025150.5(TARS2):c.1160C>T (p.Pro387Leu)
|
rs141179905
|
0.00202
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala)
|
rs145043138
|
0.00200
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_000041.4(APOE):c.137T>C (p.Leu46Pro)
|
rs769452
|
0.00199
|
NM_000064.4(C3):c.2203C>T (p.Arg735Trp)
|
rs117793540
|
0.00198
|
NM_017882.3(CLN6):c.840G>A (p.Leu280=)
|
rs148949069
|
0.00198
|
NM_032608.7(MYO18B):c.3431C>T (p.Ala1144Val)
|
rs185802314
|
0.00198
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=)
|
rs229593
|
0.00197
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
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_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser)
|
rs142211558
|
0.00196
|
NM_212550.5(BLOC1S3):c.478G>T (p.Val160Leu)
|
rs201502372
|
0.00196
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn)
|
rs61756352
|
0.00195
|
NM_002635.4(SLC25A3):c.925+4G>A
|
rs201617025
|
0.00194
|
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)
|
rs1800579
|
0.00193
|
NM_004563.4(PCK2):c.1234+1G>T
|
rs138881435
|
0.00193
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
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_015087.5(SPART):c.1130A>T (p.Lys377Met)
|
rs148672324
|
0.00191
|
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00191
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)
|
rs45567240
|
0.00190
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)
|
rs139596860
|
0.00189
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)
|
rs4253046
|
0.00188
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
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_020549.5(CHAT):c.1248C>T (p.Asn416=)
|
rs116071049
|
0.00187
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000572.3(IL10):c.43G>A (p.Gly15Arg)
|
rs145922845
|
0.00186
|
NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys)
|
rs142145391
|
0.00186
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)
|
rs28544073
|
0.00184
|
NM_000037.4(ANK1):c.2197-17G>A
|
rs188360816
|
0.00183
|
NM_012210.4(TRIM32):c.558G>C (p.Gln186His)
|
rs117599771
|
0.00183
|
NM_032520.5(GNPTG):c.741+5C>T
|
rs201263537
|
0.00183
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_005689.4(ABCB6):c.1943G>A (p.Arg648Gln)
|
rs13402964
|
0.00182
|
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=)
|
rs193102273
|
0.00182
|
NM_198834.3(ACACA):c.3475-10T>C
|
rs192888791
|
0.00182
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)
|
rs111834376
|
0.00181
|
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala)
|
rs34305721
|
0.00181
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)
|
rs137917233
|
0.00180
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)
|
rs142648687
|
0.00179
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)
|
rs144200355
|
0.00179
|
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)
|
rs150807064
|
0.00179
|
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val)
|
rs147162838
|
0.00178
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_022915.5(MRPL44):c.40C>T (p.Arg14Cys)
|
rs113422842
|
0.00178
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_001040108.2(MLH3):c.2490T>G (p.Phe830Leu)
|
rs114015611
|
0.00177
|
NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro)
|
rs138868323
|
0.00177
|
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)
|
rs74977201
|
0.00176
|
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)
|
rs147410912
|
0.00176
|
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)
|
rs116424900
|
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_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
NM_001710.6(CFB):c.724A>C (p.Ile242Leu)
|
rs144812066
|
0.00175
|
NM_007215.4(POLG2):c.927C>T (p.His309=)
|
rs73332195
|
0.00175
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met)
|
rs142573385
|
0.00173
|
NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu)
|
rs149709084
|
0.00173
|
NM_016138.5(COQ7):c.545A>G (p.His182Arg)
|
rs139931303
|
0.00173
|
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)
|
rs150433001
|
0.00173
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
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_005876.5(SPEG):c.3998C>T (p.Thr1333Met)
|
rs76811720
|
0.00172
|
NM_016292.3(TRAP1):c.933T>C (p.His311=)
|
rs142413437
|
0.00172
|
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile)
|
rs73496064
|
0.00172
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys)
|
rs28756987
|
0.00171
|
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr)
|
rs35797405
|
0.00170
|
NM_000235.4(LIPA):c.756A>C (p.Ile252=)
|
rs145037134
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)
|
rs143459302
|
0.00169
|
NM_004655.4(AXIN2):c.1713-18G>A
|
rs147664289
|
0.00169
|
NM_005051.3(QARS1):c.1426G>A (p.Val476Ile)
|
rs144092780
|
0.00169
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
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_001081.4(CUBN):c.10119C>A (p.Val3373=)
|
rs139596037
|
0.00168
|
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)
|
rs138160928
|
0.00168
|
NM_000159.4(GCDH):c.271+3G>A
|
rs75430014
|
0.00167
|
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser)
|
rs145056278
|
0.00167
|
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis)
|
rs566116760
|
0.00167
|
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)
|
rs183347428
|
0.00166
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_003118.4(SPARC):c.120+5G>A
|
rs199932910
|
0.00166
|
NM_004544.4(NDUFA10):c.548-9A>G
|
rs147876332
|
0.00166
|
NM_000293.3(PHKB):c.1574C>A (p.Pro525His)
|
rs79509460
|
0.00165
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
NM_001193313.2(SUGCT):c.126A>C (p.Glu42Asp)
|
rs193023834
|
0.00165
|
NM_003118.4(SPARC):c.187G>A (p.Glu63Lys)
|
rs113617771
|
0.00165
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val)
|
rs114945876
|
0.00165
|
NM_000249.4(MLH1):c.885-24T>A
|
rs201594027
|
0.00164
|
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val)
|
rs150644209
|
0.00164
|
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe)
|
rs146289506
|
0.00164
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)
|
rs121908854
|
0.00163
|
NM_001953.5(TYMP):c.1074A>G (p.Arg358=)
|
rs372847627
|
0.00163
|
NM_002979.5(SCP2):c.1468+17C>A
|
rs79342751
|
0.00163
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_001374504.1(TMPRSS6):c.457C>T (p.Arg153Cys)
|
rs116092750
|
0.00162
|
NM_003906.5(MCM3AP):c.1267A>G (p.Thr423Ala)
|
rs144151494
|
0.00162
|
NM_012208.4(HARS2):c.324T>C (p.Tyr108=)
|
rs143687204
|
0.00162
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_000038.6(APC):c.120G>A (p.Glu40=)
|
rs142720069
|
0.00161
|
NM_001083961.2(WDR62):c.253G>A (p.Val85Met)
|
rs146274964
|
0.00161
|
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)
|
rs139879284
|
0.00161
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)
|
rs11556797
|
0.00161
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00160
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_001397406.1(FDX2):c.299A>G (p.Asp100Gly)
|
rs142729488
|
0.00160
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
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_005726.6(TSFM):c.797T>A (p.Leu266His)
|
rs146777264
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_020191.4(MRPS22):c.617C>T (p.Thr206Ile)
|
rs76148008
|
0.00160
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
NM_000179.3(MSH6):c.3801+17T>C
|
rs3136365
|
0.00159
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser)
|
rs138134718
|
0.00159
|
NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys)
|
rs6804746
|
0.00159
|
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)
|
rs143912353
|
0.00159
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs11394094
|
0.00159
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)
|
rs184868814
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000519.4(HBD):c.82G>T (p.Ala28Ser)
|
rs35152987
|
0.00158
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)
|
rs141190850
|
0.00158
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
NM_014629.4(ARHGEF10):c.1631A>T (p.Gln544Leu)
|
rs148715187
|
0.00158
|
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)
|
rs146466185
|
0.00158
|
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met)
|
rs140778634
|
0.00158
|
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met)
|
rs147233112
|
0.00158
|
NM_178554.6(KY):c.557T>C (p.Val186Ala)
|
rs188233679
|
0.00158
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr)
|
rs2228208
|
0.00157
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
NM_014236.4(GNPAT):c.925-16G>A
|
rs41305723
|
0.00157
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg)
|
rs41299613
|
0.00157
|
NM_000799.4(EPO):c.250G>A (p.Gly84Arg)
|
rs137953994
|
0.00156
|
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr)
|
rs191656121
|
0.00156
|
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys)
|
rs200929552
|
0.00156
|
NM_015175.3(NBEAL2):c.3384+5G>A
|
rs370559049
|
0.00156
|
NM_017775.4(TTC19):c.898A>C (p.Ile300Leu)
|
rs143293913
|
0.00156
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)
|
rs45596335
|
0.00155
|
NM_000552.5(VWF):c.1728G>T (p.Met576Ile)
|
rs150146744
|
0.00155
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)
|
rs146426296
|
0.00155
|
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)
|
rs113840224
|
0.00155
|
NM_006214.4(PHYH):c.356C>T (p.Thr119Met)
|
rs34571629
|
0.00155
|
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)
|
rs114782902
|
0.00155
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln)
|
rs116069486
|
0.00153
|
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn)
|
rs80120302
|
0.00153
|
NM_138386.3(NAF1):c.1478A>C (p.Tyr493Ser)
|
rs143001503
|
0.00153
|
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)
|
rs145709687
|
0.00152
|
NM_032415.7(CARD11):c.3019+9C>T
|
rs200741645
|
0.00152
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_001374504.1(TMPRSS6):c.212C>T (p.Ala71Val)
|
rs139563689
|
0.00151
|
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)
|
rs148453565
|
0.00151
|
NM_017775.4(TTC19):c.911G>C (p.Arg304Thr)
|
rs73981411
|
0.00151
|
NM_000037.4(ANK1):c.2745G>A (p.Val915=)
|
rs143585080
|
0.00150
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_000637.5(GSR):c.866T>C (p.Val289Ala)
|
rs151187899
|
0.00150
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_001355436.2(SPTB):c.40C>T (p.Pro14Ser)
|
rs147059670
|
0.00150
|
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)
|
rs148337824
|
0.00150
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu)
|
rs72549326
|
0.00149
|
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro)
|
rs146116229
|
0.00148
|
NM_001374736.1(DST):c.2705C>G (p.Ser902Cys)
|
rs138553142
|
0.00148
|
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)
|
rs147693556
|
0.00148
|
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
|
rs116841148
|
0.00148
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His)
|
rs200029740
|
0.00147
|
NM_001355436.2(SPTB):c.5750C>T (p.Ser1917Phe)
|
rs149678681
|
0.00147
|
NM_006660.5(CLPX):c.1463T>C (p.Ile488Thr)
|
rs35754835
|
0.00147
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
NM_000552.5(VWF):c.3789G>A (p.Ser1263=)
|
rs199831474
|
0.00146
|
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys)
|
rs187662524
|
0.00146
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn)
|
rs142656537
|
0.00146
|
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)
|
rs76458556
|
0.00145
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)
|
rs76881554
|
0.00145
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
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_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_182476.3(COQ6):c.395A>G (p.Asp132Gly)
|
rs45496292
|
0.00144
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
NM_000098.3(CPT2):c.932A>G (p.Asn311Ser)
|
rs142790440
|
0.00143
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
NM_005560.6(LAMA5):c.8521C>T (p.His2841Tyr)
|
rs149358620
|
0.00143
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
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_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser)
|
rs149186357
|
0.00141
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_017775.4(TTC19):c.146C>T (p.Pro49Leu)
|
rs537063695
|
0.00141
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile)
|
rs149316006
|
0.00140
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
0.00140
|
NM_183075.3(CYP2U1):c.1132G>A (p.Val378Ile)
|
rs61740284
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_001557.4(CXCR2):c.458G>A (p.Arg153His)
|
rs55799208
|
0.00139
|
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)
|
rs147259983
|
0.00139
|
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)
|
rs56006128
|
0.00138
|
NM_000178.4(GSS):c.988C>T (p.Arg330Cys)
|
rs148640446
|
0.00138
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
|
rs141226650
|
0.00138
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_005262.3(GFER):c.189G>C (p.Glu63Asp)
|
rs375792737
|
0.00138
|
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)
|
rs200750044
|
0.00138
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val)
|
rs556192193
|
0.00137
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_030773.4(TUBB1):c.13G>A (p.Val5Ile)
|
rs145280665
|
0.00137
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
NM_000342.4(SLC4A1):c.1522G>A (p.Glu508Lys)
|
rs45568837
|
0.00136
|
NM_001355436.2(SPTB):c.6496C>G (p.Pro2166Ala)
|
rs144051169
|
0.00136
|
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)
|
rs140221316
|
0.00136
|
NM_002972.4(SBF1):c.2650C>G (p.Leu884Val)
|
rs202055128
|
0.00136
|
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)
|
rs535030441
|
0.00136
|
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=)
|
rs142775086
|
0.00136
|
NM_024514.5(CYP2R1):c.4T>C (p.Trp2Arg)
|
rs199997444
|
0.00136
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_005005.3(NDUFB9):c.201C>T (p.Ala67=)
|
rs142579814
|
0.00135
|
NM_007315.4(STAT1):c.1222-5T>C
|
rs191364028
|
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_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_004998.4(MYO1E):c.1615C>A (p.Leu539Met)
|
rs139049058
|
0.00134
|
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)
|
rs202128129
|
0.00134
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys)
|
rs75424023
|
0.00133
|
NM_001256007.3(PNPLA8):c.1615A>G (p.Asn539Asp)
|
rs35773218
|
0.00133
|
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)
|
rs201115952
|
0.00133
|
NM_020944.3(GBA2):c.815T>C (p.Val272Ala)
|
rs142602400
|
0.00133
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala)
|
rs143537405
|
0.00133
|
NM_212552.3(BOLA3):c.258+9A>C
|
rs201380456
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
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_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)
|
rs77729067
|
0.00132
|
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)
|
rs140141633
|
0.00132
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NC_000019.10:g.55166647A>G
|
rs200365972
|
0.00131
|
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)
|
rs150727525
|
0.00131
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys)
|
rs61755731
|
0.00131
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_000925.4(PDHB):c.198A>G (p.Ala66=)
|
rs138621975
|
0.00130
|
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)
|
rs35555197
|
0.00130
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val)
|
rs143086237
|
0.00130
|
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser)
|
rs142375403
|
0.00129
|
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr)
|
rs57351269
|
0.00129
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys)
|
rs138855624
|
0.00129
|
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu)
|
rs79414242
|
0.00129
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
NM_000159.4(GCDH):c.1143C>T (p.Ile381=)
|
rs142553521
|
0.00128
|
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)
|
rs149606212
|
0.00128
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00128
|
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile)
|
rs147485868
|
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_000170.3(GLDC):c.1618A>C (p.Lys540Gln)
|
rs140516872
|
0.00127
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys)
|
rs150243147
|
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_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_000791.4(DHFR):c.-419C>G
|
rs1574197
|
0.00126
|
NM_004947.5(DOCK3):c.5020A>T (p.Met1674Leu)
|
rs142515812
|
0.00126
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_000222.3(KIT):c.1588G>A (p.Val530Ile)
|
rs72550822
|
0.00125
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00125
|
NM_000642.3(AGL):c.1810T>G (p.Phe604Val)
|
rs138105395
|
0.00125
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00125
|
NM_001367561.1(DOCK7):c.3935C>T (p.Thr1312Met)
|
rs59558623
|
0.00125
|
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)
|
rs186987240
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000140.5(FECH):c.185C>G (p.Pro62Arg)
|
rs150830931
|
0.00124
|
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)
|
rs116690555
|
0.00124
|
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly)
|
rs143957922
|
0.00124
|
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)
|
rs115488133
|
0.00124
|
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)
|
rs183272965
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
|
rs61740537
|
0.00123
|
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)
|
rs76368635
|
0.00123
|
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)
|
rs147531758
|
0.00123
|
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)
|
rs148833652
|
0.00123
|
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)
|
rs11658164
|
0.00123
|
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)
|
rs117307093
|
0.00123
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00122
|
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)
|
rs188976869
|
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_001008216.2(GALE):c.956G>A (p.Gly319Glu)
|
rs28940885
|
0.00121
|
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)
|
rs145183203
|
0.00121
|
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)
|
rs149251662
|
0.00121
|
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)
|
rs113364886
|
0.00121
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly)
|
rs17222674
|
0.00120
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00120
|
NM_001201550.3(CFHR4):c.983C>T (p.Thr328Ile)
|
rs200497324
|
0.00120
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)
|
rs147608206
|
0.00119
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu)
|
rs201929423
|
0.00118
|
NM_003332.4(TYROBP):c.238C>T (p.Arg80Trp)
|
rs140188939
|
0.00118
|
NM_005876.5(SPEG):c.1753G>A (p.Gly585Ser)
|
rs200066956
|
0.00118
|
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)
|
rs121964926
|
0.00118
|
NM_019616.4(F7):c.785G>A (p.Arg262Gln)
|
rs77121822
|
0.00118
|
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe)
|
rs143876748
|
0.00118
|
NM_024009.3(GJB3):c.187G>A (p.Val63Ile)
|
rs61732295
|
0.00118
|
NM_144687.4(NLRP12):c.2692G>T (p.Asp898Tyr)
|
rs138514430
|
0.00118
|
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=)
|
rs144484457
|
0.00118
|
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met)
|
rs114400765
|
0.00118
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_001374504.1(TMPRSS6):c.362G>A (p.Arg121His)
|
rs142400865
|
0.00117
|
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val)
|
rs200511900
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser)
|
rs141575859
|
0.00117
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln)
|
rs145603001
|
0.00116
|
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)
|
rs192877602
|
0.00116
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr)
|
rs143484849
|
0.00116
|
NM_015978.3(TNNI3K):c.1772G>C (p.Ser591Thr)
|
rs145260115
|
0.00116
|
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln)
|
rs145303578
|
0.00116
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
NM_139125.4(MASP1):c.863G>A (p.Arg288Gln)
|
rs116001173
|
0.00116
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu)
|
rs375285857
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser)
|
rs142690258
|
0.00114
|
NM_000038.6(APC):c.423-17T>A
|
rs534684461
|
0.00114
|
NM_000186.4(CFH):c.2651C>A (p.Ser884Tyr)
|
rs114743644
|
0.00114
|
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg)
|
rs201962649
|
0.00114
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu)
|
rs200860772
|
0.00114
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00114
|
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)
|
rs149121639
|
0.00114
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly)
|
rs140648376
|
0.00113
|
NM_001355436.2(SPTB):c.6345+19T>A
|
rs151232626
|
0.00113
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
NM_198576.4(AGRN):c.4840G>A (p.Glu1614Lys)
|
rs147259096
|
0.00113
|
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)
|
rs121909548
|
0.00112
|
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)
|
rs41306784
|
0.00112
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu)
|
rs202127176
|
0.00112
|
NM_002016.2(FLG):c.7801G>A (p.Asp2601Asn)
|
rs146849256
|
0.00112
|
NM_002796.3(PSMB4):c.-9G>A
|
rs200946642
|
0.00112
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_000324.3(RHAG):c.199T>C (p.Phe67Leu)
|
rs116356543
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr)
|
rs75539253
|
0.00109
|
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser)
|
rs201950081
|
0.00109
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp)
|
rs185397176
|
0.00109
|
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)
|
rs140942230
|
0.00109
|
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00109
|
NM_130837.3(OPA1):c.2880A>G (p.Arg960=)
|
rs144898877
|
0.00109
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)
|
rs35759430
|
0.00108
|
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)
|
rs115877891
|
0.00108
|
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu)
|
rs142327602
|
0.00108
|
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr)
|
rs144054758
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr)
|
rs45495503
|
0.00107
|
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met)
|
rs201226914
|
0.00107
|
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp)
|
rs193252082
|
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_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn)
|
rs76923280
|
0.00106
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile)
|
rs150539399
|
0.00106
|
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)
|
rs201889290
|
0.00106
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile)
|
rs140085544
|
0.00105
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr)
|
rs201771255
|
0.00105
|
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)
|
rs148611356
|
0.00105
|
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys)
|
rs146913158
|
0.00105
|
NM_153816.6(SNX14):c.1074C>T (p.Gly358=)
|
rs41271627
|
0.00105
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00104
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)
|
rs142309764
|
0.00103
|
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)
|
rs112388307
|
0.00103
|
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)
|
rs143532979
|
0.00103
|
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His)
|
rs759627248
|
0.00103
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys)
|
rs181546859
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_001080414.4(CCDC88C):c.483+8C>T
|
rs201193446
|
0.00102
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)
|
rs550949678
|
0.00102
|
NM_005876.5(SPEG):c.3969G>T (p.Gln1323His)
|
rs55876679
|
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_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
0.00102
|
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)
|
rs146515622
|
0.00102
|
NM_000038.6(APC):c.423-16A>T
|
rs78919815
|
0.00101
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)
|
rs11547480
|
0.00101
|
NM_020821.3(VPS13C):c.11143G>T (p.Asp3715Tyr)
|
rs62007358
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp)
|
rs28757011
|
0.00100
|
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met)
|
rs112775194
|
0.00100
|
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)
|
rs34754243
|
0.00100
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
NM_003172.4(SURF1):c.211G>C (p.Val71Leu)
|
rs147993882
|
0.00099
|
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
|
rs143030960
|
0.00099
|
NM_018122.5(DARS2):c.188G>A (p.Gly63Asp)
|
rs114714497
|
0.00099
|
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)
|
rs114237522
|
0.00099
|
NM_000121.4(EPOR):c.296C>T (p.Ala99Val)
|
rs146235694
|
0.00098
|
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)
|
rs199473025
|
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_001127649.3(PEX26):c.497G>A (p.Arg166Gln)
|
rs34194489
|
0.00098
|
NM_001303.4(COX10):c.981C>T (p.Asn327=)
|
rs146175179
|
0.00098
|
NM_001966.4(EHHADH):c.1864C>T (p.Arg622Cys)
|
rs199916968
|
0.00098
|
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)
|
rs200230894
|
0.00098
|
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)
|
rs146440397
|
0.00098
|
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp)
|
rs121965090
|
0.00098
|
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)
|
rs72720524
|
0.00098
|
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)
|
rs61740381
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)
|
rs149806390
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala)
|
rs146610448
|
0.00096
|
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)
|
rs114220185
|
0.00096
|
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser)
|
rs142402808
|
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_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr)
|
rs141639003
|
0.00096
|
NM_005720.4(ARPC1B):c.1049T>G (p.Met350Arg)
|
rs151225927
|
0.00096
|
NM_016038.4(SBDS):c.127G>T (p.Val43Leu)
|
rs147652512
|
0.00096
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_021815.5(SLC5A7):c.1237G>A (p.Val413Ile)
|
rs138945146
|
0.00096
|
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)
|
rs113005049
|
0.00096
|
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)
|
rs139059149
|
0.00095
|
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)
|
rs147135554
|
0.00095
|
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)
|
rs115986826
|
0.00095
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)
|
rs147950418
|
0.00094
|
NM_003465.3(CHIT1):c.447C>T (p.Ala149=)
|
rs139891908
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn)
|
rs139709507
|
0.00094
|
NM_022915.5(MRPL44):c.244A>G (p.Asn82Asp)
|
rs113782060
|
0.00094
|
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)
|
rs61995921
|
0.00094
|
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys)
|
rs139375455
|
0.00093
|
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)
|
rs61732159
|
0.00093
|
NM_002227.4(JAK1):c.1951G>A (p.Val651Met)
|
rs149968614
|
0.00093
|
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala)
|
rs114404835
|
0.00093
|
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)
|
rs146803767
|
0.00093
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
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_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_001710.6(CFB):c.837C>G (p.Asp279Glu)
|
rs147564718
|
0.00092
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)
|
rs143779235
|
0.00092
|
NM_014049.5(ACAD9):c.453+8A>G
|
rs199919500
|
0.00092
|
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)
|
rs79524027
|
0.00092
|
NM_000038.6(APC):c.835-24A>T
|
rs200399868
|
0.00091
|
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser)
|
rs116320983
|
0.00091
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp)
|
rs201399007
|
0.00091
|
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)
|
rs202217097
|
0.00091
|
NM_017909.4(RMND1):c.1085G>A (p.Arg362His)
|
rs142588921
|
0.00091
|
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)
|
rs59551486
|
0.00091
|
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
0.00091
|
NM_001098816.3(TENM4):c.5612C>G (p.Pro1871Arg)
|
rs199973967
|
0.00090
|
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)
|
rs200631556
|
0.00090
|
NM_000064.4(C3):c.4369G>C (p.Asp1457His)
|
rs113742728
|
0.00089
|
NM_000434.4(NEU1):c.432C>T (p.Ser144=)
|
rs114405905
|
0.00089
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu)
|
rs140918583
|
0.00089
|
NM_005559.4(LAMA1):c.2808+5G>A
|
rs201030108
|
0.00089
|
NM_000250.2(MPO):c.1379G>A (p.Arg460Gln)
|
rs149133270
|
0.00088
|
NM_001079.4(ZAP70):c.1289+10G>A
|
rs200538234
|
0.00088
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg)
|
rs200519530
|
0.00088
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_000293.3(PHKB):c.2284G>A (p.Val762Ile)
|
rs56010117
|
0.00087
|
NM_001206927.2(DNAH8):c.13747C>T (p.Arg4583Cys)
|
rs144505769
|
0.00087
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
NM_000426.4(LAMA2):c.6697G>A (p.Val2233Ile)
|
rs150945378
|
0.00086
|
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)
|
rs146462599
|
0.00086
|
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)
|
rs146406037
|
0.00086
|
NM_003764.4(STX11):c.616G>A (p.Glu206Lys)
|
rs145347140
|
0.00086
|
NM_006364.4(SEC23A):c.500T>C (p.Ile167Thr)
|
rs144765020
|
0.00086
|
NM_022041.4(GAN):c.355A>T (p.Thr119Ser)
|
rs141396595
|
0.00086
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys)
|
rs200566665
|
0.00086
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_012123.4(MTO1):c.176G>C (p.Gly59Ala)
|
rs201279883
|
0.00085
|
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln)
|
rs150141794
|
0.00084
|
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)
|
rs142381554
|
0.00084
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His)
|
rs147869659
|
0.00084
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro)
|
rs142476324
|
0.00084
|
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
NM_014324.6(AMACR):c.554T>C (p.Val185Ala)
|
rs145786819
|
0.00084
|
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys)
|
rs146043988
|
0.00083
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
NM_004525.3(LRP2):c.9650A>G (p.Tyr3217Cys)
|
rs143150497
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_213595.4(ISCU):c.475C>G (p.Pro159Ala)
|
rs113036584
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu)
|
rs117447044
|
0.00082
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_003465.3(CHIT1):c.1351C>T (p.Pro451Ser)
|
rs141079733
|
0.00082
|
NM_016138.5(COQ7):c.193C>T (p.Arg65Cys)
|
rs140688283
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000410.4(HFE):c.829G>A (p.Glu277Lys)
|
rs140080192
|
0.00081
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001374504.1(TMPRSS6):c.844G>A (p.Gly282Ser)
|
rs145053404
|
0.00081
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_003465.3(CHIT1):c.89A>G (p.Asn30Ser)
|
rs146692911
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)
|
rs139253468
|
0.00081
|
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)
|
rs142883889
|
0.00081
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)
|
rs151241589
|
0.00081
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00080
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met)
|
rs372935580
|
0.00080
|
NM_003049.4(SLC10A1):c.702T>G (p.Phe234Leu)
|
rs139931299
|
0.00080
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
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_012254.3(SLC27A5):c.934G>A (p.Val312Ile)
|
rs146682651
|
0.00079
|
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val)
|
rs145092724
|
0.00079
|
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)
|
rs74162075
|
0.00079
|
NM_030787.4(CFHR5):c.1561T>A (p.Leu521Ile)
|
rs35957013
|
0.00079
|
NM_173689.7(CRB2):c.2519C>G (p.Pro840Arg)
|
rs61740212
|
0.00079
|
NM_000202.8(IDS):c.1181-13C>T
|
rs188486717
|
0.00078
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
NM_000379.4(XDH):c.3647C>A (p.Pro1216His)
|
rs143981573
|
0.00078
|
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val)
|
rs149200446
|
0.00078
|
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys)
|
rs144539316
|
0.00078
|
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile)
|
rs61757375
|
0.00078
|
NM_014317.5(PDSS1):c.760G>C (p.Glu254Gln)
|
rs145758711
|
0.00078
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
NM_000666.3(ACY1):c.332C>T (p.Ala111Val)
|
rs149475049
|
0.00077
|
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)
|
rs139460397
|
0.00077
|
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala)
|
rs530387460
|
0.00077
|
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)
|
rs113631419
|
0.00077
|
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)
|
rs193204986
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe)
|
rs121912502
|
0.00076
|
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp)
|
rs183087139
|
0.00076
|
NM_001081.4(CUBN):c.3G>T (p.Met1Ile)
|
rs11254385
|
0.00076
|
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr)
|
rs143154211
|
0.00076
|
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)
|
rs63750043
|
0.00076
|
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu)
|
rs188875641
|
0.00076
|
NM_004453.4(ETFDH):c.832-10T>G
|
rs200911913
|
0.00076
|
NM_004655.4(AXIN2):c.270C>T (p.Asp90=)
|
rs141655687
|
0.00076
|
NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe)
|
rs141934766
|
0.00076
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)
|
rs139281846
|
0.00075
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu)
|
rs117188693
|
0.00075
|
NM_025207.5(FLAD1):c.787C>T (p.Arg263Trp)
|
rs146501091
|
0.00075
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)
|
rs200792504
|
0.00074
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
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_024577.4(SH3TC2):c.3644G>A (p.Arg1215His)
|
rs145390629
|
0.00074
|
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)
|
rs148575027
|
0.00074
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn)
|
rs147175166
|
0.00073
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys)
|
rs147973409
|
0.00073
|
NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg)
|
rs144016130
|
0.00073
|
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu)
|
rs183760368
|
0.00073
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00073
|
NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln)
|
rs374728484
|
0.00073
|
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)
|
rs201910178
|
0.00073
|
NM_004614.5(TK2):c.122C>A (p.Pro41His)
|
rs201904720
|
0.00073
|
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)
|
rs141589525
|
0.00073
|
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)
|
rs200059077
|
0.00073
|
NM_152783.5(D2HGDH):c.1140+8G>A
|
rs369135156
|
0.00073
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)
|
rs147971989
|
0.00072
|
NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala)
|
rs142483613
|
0.00072
|
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly)
|
rs140365800
|
0.00072
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)
|
rs201667254
|
0.00072
|
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)
|
rs138162760
|
0.00071
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn)
|
rs111033261
|
0.00071
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)
|
rs3176162
|
0.00071
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
0.00071
|
NM_006214.4(PHYH):c.568G>A (p.Val190Ile)
|
rs146190978
|
0.00071
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
NM_014639.4(SKIC3):c.1938C>T (p.Gly646=)
|
rs149655074
|
0.00071
|
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly)
|
rs149364914
|
0.00071
|
NM_057176.3(BSND):c.715C>T (p.Gln239Ter)
|
rs147394986
|
0.00071
|
NM_153614.4(DNAJB13):c.439T>A (p.Ser147Thr)
|
rs148650935
|
0.00071
|
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)
|
rs199915216
|
0.00070
|
NM_001114134.2(EPB42):c.10+60C>T
|
rs144428415
|
0.00070
|
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)
|
rs145268073
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp)
|
rs201442593
|
0.00069
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
NM_002386.4(MC1R):c.247T>C (p.Ser83Pro)
|
rs34474212
|
0.00069
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_024664.4(PPCS):c.519G>A (p.Ala173=)
|
rs200337358
|
0.00069
|
NM_001080449.3(DNA2):c.1796G>A (p.Arg599His)
|
rs201999986
|
0.00068
|
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys)
|
rs146505418
|
0.00068
|
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)
|
rs142220309
|
0.00068
|
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)
|
rs145675502
|
0.00068
|
NM_001365276.2(TNXB):c.11581G>A (p.Ala3861Thr)
|
rs201121030
|
0.00068
|
NM_005002.5(NDUFA9):c.722A>G (p.Tyr241Cys)
|
rs139012735
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
|
rs35630194
|
0.00068
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)
|
rs142626656
|
0.00067
|
NM_000037.4(ANK1):c.1404+15C>T
|
rs201598401
|
0.00067
|
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)
|
rs17848485
|
0.00067
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)
|
rs148527903
|
0.00067
|
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met)
|
rs192347853
|
0.00067
|
NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val)
|
rs142752989
|
0.00067
|
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln)
|
rs149168939
|
0.00067
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
NM_014425.5(INVS):c.367C>T (p.Arg123Trp)
|
rs149315279
|
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_198586.3(NHLRC1):c.681T>A (p.Asn227Lys)
|
rs140850172
|
0.00067
|
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)
|
rs199807461
|
0.00066
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
NM_001098816.3(TENM4):c.4895G>A (p.Arg1632His)
|
rs199687168
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001966.4(EHHADH):c.881C>T (p.Ala294Val)
|
rs140514906
|
0.00066
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00066
|
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)
|
rs138437966
|
0.00066
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_030787.4(CFHR5):c.1412G>A (p.Gly471Glu)
|
rs144438200
|
0.00066
|
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)
|
rs115507225
|
0.00066
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_198076.6(COX20):c.157+3G>C
|
rs367956888
|
0.00066
|
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)
|
rs145042327
|
0.00065
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00065
|
NM_001008215.3(COA5):c.*3C>G
|
rs372867268
|
0.00065
|
NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln)
|
rs143163385
|
0.00065
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr)
|
rs144748043
|
0.00065
|
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)
|
rs144915346
|
0.00065
|
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)
|
rs200280538
|
0.00065
|
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)
|
rs61750324
|
0.00065
|
NM_017909.4(RMND1):c.668C>T (p.Pro223Leu)
|
rs142521318
|
0.00065
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg)
|
rs201252553
|
0.00064
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)
|
rs117688560
|
0.00064
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln)
|
rs117962829
|
0.00064
|
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu)
|
rs145562489
|
0.00063
|
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn)
|
rs141845482
|
0.00063
|
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp)
|
rs147079519
|
0.00063
|
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)
|
rs144155507
|
0.00063
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr)
|
rs138039383
|
0.00063
|
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)
|
rs145247580
|
0.00063
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_005026.5(PIK3CD):c.2873G>A (p.Gly958Asp)
|
rs142907633
|
0.00063
|
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys)
|
rs201618718
|
0.00063
|
NM_024753.5(TTC21B):c.3850G>C (p.Asp1284His)
|
rs139537546
|
0.00063
|
NM_032782.5(HAVCR2):c.776G>A (p.Arg259His)
|
rs138681649
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000249.4(MLH1):c.375A>G (p.Ala125=)
|
rs1800144
|
0.00062
|
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His)
|
rs148393425
|
0.00062
|
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)
|
rs200970855
|
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_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)
|
rs146042595
|
0.00062
|
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)
|
rs138452760
|
0.00062
|
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)
|
rs147426329
|
0.00061
|
NM_001040108.2(MLH3):c.1234A>G (p.Lys412Glu)
|
rs61754769
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys)
|
rs139265462
|
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.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)
|
rs121912575
|
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_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)
|
rs142299878
|
0.00061
|
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)
|
rs141874052
|
0.00061
|
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln)
|
rs139877665
|
0.00061
|
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)
|
rs201277546
|
0.00061
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu)
|
rs150576611
|
0.00060
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_005876.5(SPEG):c.182G>A (p.Arg61Gln)
|
rs752331636
|
0.00060
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
NM_000090.4(COL3A1):c.3202-14del
|
rs767971610
|
0.00059
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000312.4(PROC):c.30C>T (p.Phe10=)
|
rs148490199
|
0.00059
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met)
|
rs199752762
|
0.00059
|
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)
|
rs200153024
|
0.00059
|
NM_000334.4(SCN4A):c.2188G>A (p.Val730Met)
|
rs113462659
|
0.00058
|
NM_001040716.2(PC):c.216G>A (p.Thr72=)
|
rs117711892
|
0.00058
|
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)
|
rs142702703
|
0.00058
|
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His)
|
rs200555745
|
0.00058
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
NM_003480.4(MFAP5):c.12G>A (p.Leu4=)
|
rs148879406
|
0.00058
|
NM_004589.4(SCO1):c.868A>G (p.Ile290Val)
|
rs139771078
|
0.00058
|
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)
|
rs377121179
|
0.00058
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys)
|
rs182330532
|
0.00058
|
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)
|
rs35582308
|
0.00058
|
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln)
|
rs147596628
|
0.00058
|
NM_000037.4(ANK1):c.1483A>C (p.Asn495His)
|
rs143839208
|
0.00057
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly)
|
rs199473068
|
0.00057
|
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)
|
rs1800578
|
0.00057
|
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His)
|
rs139188247
|
0.00057
|
NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser)
|
rs78119534
|
0.00057
|
NM_001142864.4(PIEZO1):c.6836G>A (p.Arg2279His)
|
rs577357377
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_001355436.2(SPTB):c.2431G>A (p.Glu811Lys)
|
rs140584449
|
0.00057
|
NM_001374736.1(DST):c.12043A>T (p.Ile4015Phe)
|
rs201249286
|
0.00057
|
NM_002087.3(GRN):c.-45C>G
|
rs563336550
|
0.00057
|
NM_002972.4(SBF1):c.5197C>T (p.Arg1733Cys)
|
rs199972466
|
0.00057
|
NM_017827.4(SARS2):c.352C>T (p.Arg118Trp)
|
rs147412052
|
0.00057
|
NM_018060.4(IARS2):c.479T>C (p.Ile160Thr)
|
rs149036509
|
0.00057
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
NM_000313.4(PROS1):c.76+7A>G
|
rs201928951
|
0.00056
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu)
|
rs538640563
|
0.00056
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg)
|
rs189560910
|
0.00056
|
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr)
|
rs138965635
|
0.00056
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_198569.3(ADGRG6):c.1955+4A>C
|
rs372735218
|
0.00056
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
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_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)
|
rs143895253
|
0.00055
|
NM_001256071.3(RNF213):c.13592C>T (p.Pro4531Leu)
|
rs143904490
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_001367805.3(KIF23):c.213T>C (p.Thr71=)
|
rs145233110
|
0.00055
|
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)
|
rs144411579
|
0.00055
|
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)
|
rs141634296
|
0.00055
|
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)
|
rs142499054
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
NM_001365276.2(TNXB):c.6367G>A (p.Asp2123Asn)
|
rs201764050
|
0.00054
|
NM_001367805.3(KIF23):c.100C>A (p.Pro34Thr)
|
rs148511930
|
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_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)
|
rs141593495
|
0.00054
|
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)
|
rs145152682
|
0.00054
|
NM_007294.4(BRCA1):c.301+8T>C
|
rs80358101
|
0.00054
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_016580.4(PCDH12):c.2030T>C (p.Val677Ala)
|
rs201826901
|
0.00054
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000054.7(AVPR2):c.542G>A (p.Arg181His)
|
rs141876414
|
0.00053
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met)
|
rs369319123
|
0.00053
|
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765
|
0.00053
|
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)
|
rs148487944
|
0.00053
|
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His)
|
rs201481646
|
0.00053
|
NM_004370.6(COL12A1):c.3835+4A>G
|
rs187358458
|
0.00053
|
NM_005373.3(MPL):c.793C>T (p.Leu265Phe)
|
rs117656396
|
0.00053
|
NM_015294.6(TRIM37):c.2240A>G (p.Asn747Ser)
|
rs143613788
|
0.00053
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00053
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
|
rs780369944
|
0.00052
|
NM_000637.5(GSR):c.493-18T>G
|
rs8190972
|
0.00052
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His)
|
rs150068594
|
0.00052
|
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His)
|
rs151045115
|
0.00052
|
NM_024079.5(ALG8):c.478+1G>A
|
rs139832787
|
0.00052
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)
|
rs140005424
|
0.00052
|
NM_198076.6(COX20):c.87C>T (p.Cys29=)
|
rs140032239
|
0.00052
|
NM_000190.4(HMBS):c.257A>T (p.Glu86Val)
|
rs150763621
|
0.00051
|
NM_000384.3(APOB):c.895T>G (p.Phe299Val)
|
rs72653060
|
0.00051
|
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)
|
rs17222744
|
0.00051
|
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu)
|
rs139069946
|
0.00051
|
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn)
|
rs202209156
|
0.00051
|
NM_001142864.4(PIEZO1):c.6165-7G>A
|
rs141011459
|
0.00051
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_001355436.2(SPTB):c.3016G>A (p.Ala1006Thr)
|
rs151112486
|
0.00051
|
NM_001355436.2(SPTB):c.774G>A (p.Thr258=)
|
rs12435635
|
0.00051
|
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn)
|
rs202227084
|
0.00051
|
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)
|
rs104895452
|
0.00051
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)
|
rs148530934
|
0.00051
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)
|
rs143290224
|
0.00051
|
NM_032638.5(GATA2):c.279G>A (p.Pro93=)
|
rs142993548
|
0.00051
|
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile)
|
rs144129296
|
0.00051
|
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)
|
rs113107733
|
0.00051
|
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)
|
rs780400922
|
0.00051
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn)
|
rs772788410
|
0.00050
|
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)
|
rs144848998
|
0.00050
|
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)
|
rs200605669
|
0.00050
|
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)
|
rs200111698
|
0.00050
|
NM_000135.4(FANCA):c.4261-8T>G
|
rs372268907
|
0.00049
|
NM_000285.4(PEPD):c.259G>A (p.Asp87Asn)
|
rs201865747
|
0.00049
|
NM_000552.5(VWF):c.1753G>A (p.Ala585Thr)
|
rs141777100
|
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_003002.4(SDHD):c.278A>G (p.Tyr93Cys)
|
rs142135772
|
0.00049
|
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly)
|
rs201601992
|
0.00049
|
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)
|
rs142912356
|
0.00049
|
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)
|
rs148501787
|
0.00049
|
NM_006214.4(PHYH):c.678+5G>T
|
rs201499815
|
0.00049
|
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)
|
rs142348767
|
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_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)
|
rs61753269
|
0.00048
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
NM_001039141.3(TRIOBP):c.2835C>G (p.Asp945Glu)
|
rs200608722
|
0.00048
|
NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser)
|
rs148871144
|
0.00048
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)
|
rs147200024
|
0.00048
|
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu)
|
rs202099525
|
0.00048
|
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)
|
rs528448732
|
0.00048
|
NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr)
|
rs147559626
|
0.00048
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His)
|
rs76283214
|
0.00048
|
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
|
rs189656371
|
0.00048
|
NM_001377299.1(NDUFS2):c.1276G>T (p.Ala426Ser)
|
rs186476170
|
0.00048
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)
|
rs201891953
|
0.00048
|
NM_030787.4(CFHR5):c.835T>A (p.Tyr279Asn)
|
rs143240067
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn)
|
rs202123515
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg)
|
rs140934482
|
0.00047
|
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
|
rs141336681
|
0.00047
|
NM_000722.4(CACNA2D1):c.2768C>G (p.Thr923Ser)
|
rs139608070
|
0.00047
|
NM_001142864.4(PIEZO1):c.5214+7C>T
|
rs764990602
|
0.00047
|
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr)
|
rs374033085
|
0.00047
|
NM_001365276.2(TNXB):c.5938G>A (p.Ala1980Thr)
|
rs148556332
|
0.00047
|
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile)
|
rs145808884
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_004722.4(AP4M1):c.1079C>A (p.Ala360Asp)
|
rs145979929
|
0.00047
|
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)
|
rs140126185
|
0.00047
|
NM_007103.4(NDUFV1):c.348C>T (p.Asn116=)
|
rs139824241
|
0.00047
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile)
|
rs150780205
|
0.00047
|
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His)
|
rs147430035
|
0.00047
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000235.4(LIPA):c.112-9T>C
|
rs200186130
|
0.00046
|
NM_000310.4(PPT1):c.799-19A>C
|
rs367820578
|
0.00046
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
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_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp)
|
rs143025739
|
0.00046
|
NM_001367805.3(KIF23):c.1265G>A (p.Arg422Gln)
|
rs150307169
|
0.00046
|
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=)
|
rs200573256
|
0.00046
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
|
rs200346497
|
0.00046
|
NM_030787.4(CFHR5):c.232T>C (p.Ser78Pro)
|
rs146025130
|
0.00046
|
NM_138477.4(CDAN1):c.2868C>T (p.Ala956=)
|
rs150438471
|
0.00046
|
NM_173660.5(DOK7):c.296C>T (p.Ala99Val)
|
rs138010842
|
0.00046
|
NM_173689.7(CRB2):c.38C>T (p.Ala13Val)
|
rs199695001
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
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_000512.5(GALNS):c.633+22T>C
|
rs201579340
|
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_001355436.2(SPTB):c.5942G>A (p.Arg1981His)
|
rs146513976
|
0.00045
|
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)
|
rs76530653
|
0.00045
|
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)
|
rs72650720
|
0.00045
|
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)
|
rs369777874
|
0.00045
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met)
|
rs145041032
|
0.00044
|
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val)
|
rs200663004
|
0.00044
|
NM_001114134.2(EPB42):c.581G>A (p.Arg194His)
|
rs146348439
|
0.00044
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)
|
rs184770596
|
0.00044
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)
|
rs148312697
|
0.00043
|
NM_000186.4(CFH):c.2077G>A (p.Asp693Asn)
|
rs148403790
|
0.00042
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp)
|
rs201674874
|
0.00042
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
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.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val)
|
rs201037895
|
0.00042
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu)
|
rs199842745
|
0.00042
|
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)
|
rs201439151
|
0.00041
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu)
|
rs199473320
|
0.00041
|
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
|
rs45471994
|
0.00041
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_001040436.3(YARS2):c.870T>C (p.Val290=)
|
rs142067801
|
0.00041
|
NM_001098816.3(TENM4):c.4558A>G (p.Asn1520Asp)
|
rs199624205
|
0.00041
|
NM_001098816.3(TENM4):c.5287G>A (p.Gly1763Arg)
|
rs201995608
|
0.00041
|
NM_001142864.4(PIEZO1):c.1107+1G>C
|
rs199524784
|
0.00041
|
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala)
|
rs550993341
|
0.00041
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_001365276.2(TNXB):c.8990G>A (p.Arg2997His)
|
rs41270454
|
0.00041
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)
|
rs143642542
|
0.00041
|
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)
|
rs149837553
|
0.00041
|
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)
|
rs149997095
|
0.00041
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
NM_006254.4(PRKCD):c.68C>T (p.Ala23Val)
|
rs144572650
|
0.00041
|
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His)
|
rs139861061
|
0.00041
|
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)
|
rs145735112
|
0.00041
|
NM_015512.5(DNAH1):c.3202G>A (p.Val1068Met)
|
rs201455697
|
0.00041
|
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val)
|
rs143408155
|
0.00041
|
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)
|
rs199794578
|
0.00041
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883
|
0.00041
|
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln)
|
rs142779872
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)
|
rs141853578
|
0.00040
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_001378457.1(DMXL2):c.2096T>C (p.Ile699Thr)
|
rs117017152
|
0.00040
|
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)
|
rs141862495
|
0.00040
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_025207.5(FLAD1):c.443G>A (p.Arg148Gln)
|
rs140409443
|
0.00040
|
NM_000037.4(ANK1):c.2167C>A (p.His723Asn)
|
rs150899388
|
0.00039
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
0.00039
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala)
|
rs141210030
|
0.00039
|
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)
|
rs192317605
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)
|
rs199694315
|
0.00039
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu)
|
rs140427193
|
0.00039
|
NM_001374736.1(DST):c.2125A>G (p.Met709Val)
|
rs142650835
|
0.00039
|
NM_003049.4(SLC10A1):c.994G>C (p.Gly332Arg)
|
rs201537069
|
0.00039
|
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)
|
rs140291959
|
0.00039
|
NM_004715.5(CTDP1):c.2395C>T (p.Arg799Cys)
|
rs148053048
|
0.00039
|
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser)
|
rs201638257
|
0.00039
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
NM_015650.4(TRAF3IP1):c.1860G>A (p.Met620Ile)
|
rs142814134
|
0.00039
|
NM_017946.4(FKBP14):c.568_570del (p.Lys190del)
|
rs762279651
|
0.00039
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_024664.4(PPCS):c.397A>T (p.Arg133Trp)
|
rs199807362
|
0.00039
|
NM_032119.4(ADGRV1):c.18040T>C (p.Phe6014Leu)
|
rs201420881
|
0.00039
|
NM_182476.3(COQ6):c.449A>G (p.His150Arg)
|
rs144880038
|
0.00039
|
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr)
|
rs142010751
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp)
|
rs200283315
|
0.00038
|
NM_001128126.3(AP4S1):c.306+4191A>G
|
rs200969079
|
0.00038
|
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val)
|
rs531972155
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe)
|
rs116959874
|
0.00038
|
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)
|
rs141825182
|
0.00038
|
NM_004715.5(CTDP1):c.2323G>A (p.Asp775Asn)
|
rs145870152
|
0.00038
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr)
|
rs201688261
|
0.00037
|
NM_001126049.2(KLLN):c.-840G>A
|
rs563841270
|
0.00036
|
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile)
|
rs565096713
|
0.00036
|
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His)
|
rs147153006
|
0.00036
|
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg)
|
rs200506892
|
0.00036
|
NM_001145308.5(LRTOMT):c.695C>T (p.Ala232Val)
|
rs540371915
|
0.00036
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
NM_002693.3(POLG):c.131A>G (p.Gln44Arg)
|
rs757120802
|
0.00036
|
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His)
|
rs202149945
|
0.00036
|
NM_006514.4(SCN10A):c.251C>T (p.Pro84Leu)
|
rs140609990
|
0.00036
|
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)
|
rs138413501
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
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_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)
|
rs145825553
|
0.00036
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
NM_000535.7(PMS2):c.1864A>G (p.Met622Val)
|
rs370853512
|
0.00035
|
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His)
|
rs140808447
|
0.00035
|
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)
|
rs142124529
|
0.00035
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
NM_001365276.2(TNXB):c.619G>A (p.Gly207Ser)
|
rs139154852
|
0.00035
|
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)
|
rs147018359
|
0.00035
|
NM_018116.4(MSTO1):c.931G>A (p.Glu311Lys)
|
rs149058840
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val)
|
rs145175796
|
0.00035
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
NM_000178.4(GSS):c.631C>G (p.Gln211Glu)
|
rs370351723
|
0.00034
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)
|
rs140202512
|
0.00034
|
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg)
|
rs145918825
|
0.00034
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)
|
rs201793958
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001270508.2(TNFAIP3):c.2090G>A (p.Arg697Lys)
|
rs201429571
|
0.00034
|
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)
|
rs138437526
|
0.00034
|
NM_001355436.2(SPTB):c.96T>C (p.Asn32=)
|
rs141340359
|
0.00034
|
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser)
|
rs199945338
|
0.00034
|
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)
|
rs273585625
|
0.00034
|
NM_002336.3(LRP6):c.3130G>A (p.Asp1044Asn)
|
rs140182370
|
0.00034
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)
|
rs147219158
|
0.00034
|
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)
|
rs137889316
|
0.00034
|
NM_005876.5(SPEG):c.2053C>G (p.Arg685Gly)
|
rs767316023
|
0.00034
|
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=)
|
rs144092577
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)
|
rs142215198
|
0.00034
|
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=)
|
rs778572930
|
0.00034
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)
|
rs200662973
|
0.00034
|
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)
|
rs200916673
|
0.00034
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
|
rs143820618
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His)
|
rs200088838
|
0.00033
|
NM_001008215.3(COA5):c.26C>T (p.Pro9Leu)
|
rs11537555
|
0.00033
|
NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser)
|
rs72554080
|
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_005548.3(KARS1):c.1485A>G (p.Ile495Met)
|
rs144274136
|
0.00033
|
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp)
|
rs202192818
|
0.00033
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)
|
rs201959100
|
0.00033
|
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)
|
rs111727307
|
0.00033
|
NM_172351.3(CD46):c.198A>T (p.Lys66Asn)
|
rs150429980
|
0.00033
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00033
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000552.5(VWF):c.6937C>T (p.Arg2313Cys)
|
rs184921605
|
0.00032
|
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly)
|
rs782598729
|
0.00032
|
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala)
|
rs147476634
|
0.00032
|
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)
|
rs193212275
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)
|
rs202063433
|
0.00032
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00032
|
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro)
|
rs143248111
|
0.00032
|
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln)
|
rs150125857
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
NM_032380.5(GFM2):c.2213G>A (p.Gly738Asp)
|
rs139901493
|
0.00032
|
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)
|
rs368822172
|
0.00032
|
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly)
|
rs149866482
|
0.00032
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00032
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)
|
rs201265160
|
0.00031
|
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly)
|
rs149984626
|
0.00031
|
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)
|
rs34061568
|
0.00031
|
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys)
|
rs554690506
|
0.00031
|
NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys)
|
rs182793773
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00031
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)
|
rs150271893
|
0.00031
|
NM_002778.4(PSAP):c.721-13T>C
|
rs370875535
|
0.00031
|
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)
|
rs560217758
|
0.00031
|
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)
|
rs145677667
|
0.00031
|
NM_006514.4(SCN10A):c.179G>A (p.Cys60Tyr)
|
rs145900411
|
0.00031
|
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)
|
rs148518827
|
0.00031
|
NM_014363.6(SACS):c.439G>C (p.Asp147His)
|
rs202226274
|
0.00031
|
NM_014915.3(ANKRD26):c.599A>G (p.Lys200Arg)
|
rs150623081
|
0.00031
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_000382.3(ALDH3A2):c.465A>G (p.Leu155=)
|
rs149865400
|
0.00030
|
NM_000540.3(RYR1):c.79G>A (p.Val27Met)
|
rs143481004
|
0.00030
|
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)
|
rs201746476
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_001953.5(TYMP):c.1443G>A (p.Gln481=)
|
rs377497287
|
0.00030
|
NM_003742.4(ABCB11):c.2620T>C (p.Ser874Pro)
|
rs184334834
|
0.00030
|
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)
|
rs371839994
|
0.00030
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_138477.4(CDAN1):c.3204+5G>A
|
rs201125492
|
0.00030
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
NM_000361.3(THBD):c.1102C>T (p.Pro368Ser)
|
rs144853671
|
0.00029
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
NM_000719.7(CACNA1C):c.2460+6G>A
|
rs369246066
|
0.00029
|
NM_000782.5(CYP24A1):c.473T>C (p.Val158Ala)
|
rs139655790
|
0.00029
|
NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys)
|
rs201069648
|
0.00029
|
NM_001142864.4(PIEZO1):c.5768C>T (p.Ala1923Val)
|
rs771257968
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
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.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)
|
rs77086616
|
0.00029
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00029
|
NM_002506.3(NGF):c.247C>T (p.Arg83Cys)
|
rs138175552
|
0.00029
|
NM_004750.5(CRLF1):c.661C>T (p.Arg221Cys)
|
rs199625640
|
0.00029
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_017433.5(MYO3A):c.426T>G (p.His142Gln)
|
rs189595832
|
0.00029
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_130837.3(OPA1):c.222A>T (p.Lys74Asn)
|
rs114157340
|
0.00029
|
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)
|
rs141140415
|
0.00029
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_001142864.4(PIEZO1):c.5105C>T (p.Thr1702Met)
|
rs377701196
|
0.00028
|
NM_001355436.2(SPTB):c.2480G>A (p.Arg827Gln)
|
rs150013838
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_007215.4(POLG2):c.590T>C (p.Leu197Pro)
|
rs139282177
|
0.00028
|
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His)
|
rs200471470
|
0.00028
|
NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg)
|
rs142129866
|
0.00028
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000285.4(PEPD):c.1454C>A (p.Ala485Asp)
|
rs781570190
|
0.00027
|
NM_000360.4(TH):c.627C>G (p.Ile209Met)
|
rs202149985
|
0.00027
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
NM_001142864.4(PIEZO1):c.1297-4G>A
|
rs368073019
|
0.00027
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln)
|
rs147254212
|
0.00027
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
|
rs145508517
|
0.00027
|
NM_015378.4(VPS13D):c.1728A>G (p.Gln576=)
|
rs142087616
|
0.00027
|
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)
|
rs201388841
|
0.00027
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met)
|
rs150280940
|
0.00027
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)
|
rs200044988
|
0.00026
|
NM_000124.4(ERCC6):c.3187G>A (p.Val1063Ile)
|
rs148475034
|
0.00026
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His)
|
rs13306776
|
0.00026
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
NM_001012614.2(CTBP1):c.1229C>T (p.Pro410Leu)
|
rs199614101
|
0.00026
|
NM_001142864.4(PIEZO1):c.5988A>G (p.Ser1996=)
|
rs370710857
|
0.00026
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)
|
rs201298767
|
0.00026
|
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)
|
rs199557654
|
0.00026
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00026
|
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)
|
rs367603302
|
0.00026
|
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)
|
rs201662134
|
0.00026
|
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)
|
rs201400267
|
0.00026
|
NM_001376013.1(EPB41):c.848C>T (p.Thr283Ile)
|
rs189183599
|
0.00026
|
NM_001465.6(FYB1):c.1922T>C (p.Val641Ala)
|
rs199923708
|
0.00026
|
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)
|
rs139519507
|
0.00026
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00026
|
NM_002637.4(PHKA1):c.890T>C (p.Leu297Pro)
|
rs138195744
|
0.00026
|
NM_003793.4(CTSF):c.214-6C>T
|
rs376579629
|
0.00026
|
NM_004046.6(ATP5F1A):c.248G>A (p.Arg83His)
|
rs146467617
|
0.00026
|
NM_004287.5(GOSR2):c.336+1G>A
|
rs141554661
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr)
|
rs200473895
|
0.00026
|
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)
|
rs587731325
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)
|
rs372103269
|
0.00026
|
NM_014363.6(SACS):c.1273C>A (p.Pro425Thr)
|
rs142024534
|
0.00026
|
NM_020631.6(PLEKHG5):c.440-2A>G
|
rs144750655
|
0.00026
|
NM_021830.5(TWNK):c.689G>T (p.Gly230Val)
|
rs142978552
|
0.00026
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe)
|
rs145638628
|
0.00026
|
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile)
|
rs372091476
|
0.00026
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)
|
rs189601972
|
0.00025
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)
|
rs28931603
|
0.00025
|
NM_000186.4(CFH):c.3133+4C>G
|
rs374729595
|
0.00025
|
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)
|
rs142163063
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)
|
rs143398211
|
0.00025
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_001126121.2(SLC25A19):c.484G>A (p.Val162Met)
|
rs138452752
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
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.44497G>A (p.Val14833Ile)
|
rs373168798
|
0.00025
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00025
|
NM_001349206.2(LPIN1):c.1972G>A (p.Val658Ile)
|
rs146048019
|
0.00025
|
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu)
|
rs200943714
|
0.00025
|
NM_002206.3(ITGA7):c.799A>G (p.Ile267Val)
|
rs201469044
|
0.00025
|
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)
|
rs34292387
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_015978.3(TNNI3K):c.1550A>G (p.Asn517Ser)
|
rs138357965
|
0.00025
|
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)
|
rs144147839
|
0.00025
|
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu)
|
rs200833729
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp)
|
rs782312793
|
0.00025
|
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu)
|
rs115876786
|
0.00024
|
NM_000204.5(CFI):c.719C>G (p.Ala240Gly)
|
rs146444258
|
0.00024
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00024
|
NM_000237.3(LPL):c.998G>A (p.Arg333His)
|
rs144466625
|
0.00024
|
NM_000251.3(MSH2):c.1277-16T>C
|
rs368653974
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile)
|
rs142757938
|
0.00024
|
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala)
|
rs140680467
|
0.00024
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe)
|
rs199553519
|
0.00024
|
NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu)
|
rs121912268
|
0.00024
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)
|
rs564395221
|
0.00024
|
NM_001142864.4(PIEZO1):c.752C>T (p.Ala251Val)
|
rs539005229
|
0.00024
|
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)
|
rs200603610
|
0.00024
|
NM_001267550.2(TTN):c.95884A>G (p.Asn31962Asp)
|
rs369087584
|
0.00024
|
NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg)
|
rs200319996
|
0.00024
|
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)
|
rs41274468
|
0.00024
|
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)
|
rs148962954
|
0.00024
|
NM_002863.5(PYGL):c.1274G>A (p.Arg425His)
|
rs2228499
|
0.00024
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_003126.4(SPTA1):c.329A>T (p.Glu110Val)
|
rs368253777
|
0.00024
|
NM_003321.5(TUFM):c.427G>A (p.Gly143Ser)
|
rs34283928
|
0.00024
|
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)
|
rs200124902
|
0.00024
|
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu)
|
rs148990138
|
0.00024
|
NM_004839.4(HOMER2):c.181A>G (p.Ile61Val)
|
rs201330165
|
0.00024
|
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met)
|
rs201070853
|
0.00024
|
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val)
|
rs542940704
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_017547.4(FOXRED1):c.1252C>G (p.Gln418Glu)
|
rs201261500
|
0.00024
|
NM_020778.5(ALPK3):c.4156A>G (p.Met1386Val)
|
rs149627415
|
0.00024
|
NM_021067.5(GINS1):c.447+7A>G
|
rs200596482
|
0.00024
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr)
|
rs192268080
|
0.00024
|
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
|
rs78683075
|
0.00024
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys)
|
rs151009169
|
0.00023
|
NM_000519.3(HBD):c.410G>A (p.Gly137Asp)
|
rs35849348
|
0.00023
|
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)
|
rs202020477
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_002693.3(POLG):c.408C>G (p.Asp136Glu)
|
rs115109291
|
0.00023
|
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)
|
rs147738731
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_020549.5(CHAT):c.754C>T (p.His252Tyr)
|
rs376994468
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln)
|
rs144366005
|
0.00023
|
NM_000301.5(PLG):c.1499C>T (p.Thr500Met)
|
rs140970354
|
0.00022
|
NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn)
|
rs149593061
|
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_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_001355436.2(SPTB):c.1027G>A (p.Ala343Thr)
|
rs149837193
|
0.00022
|
NM_001365276.2(TNXB):c.2623G>A (p.Val875Ile)
|
rs377480086
|
0.00022
|
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
|
rs200887429
|
0.00022
|
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg)
|
rs150446804
|
0.00022
|
NM_002972.4(SBF1):c.2464G>A (p.Val822Ile)
|
rs201061231
|
0.00022
|
NM_004168.4(SDHA):c.-2A>T
|
rs763680697
|
0.00022
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)
|
rs547624231
|
0.00022
|
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)
|
rs139076647
|
0.00022
|
NM_000038.6(APC):c.1419G>A (p.Gln473=)
|
rs141579422
|
0.00021
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)
|
rs200665694
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000186.4(CFH):c.1949G>T (p.Gly650Val)
|
rs143237092
|
0.00021
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)
|
rs201736972
|
0.00021
|
NM_000519.4(HBD):c.316-5C>T
|
rs35769679
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)
|
rs371934474
|
0.00021
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met)
|
rs200511467
|
0.00021
|
NM_001261826.3(AP3D1):c.2812A>C (p.Lys938Gln)
|
rs201127154
|
0.00021
|
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys)
|
rs373867080
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_001278716.2(FBXL4):c.1073G>A (p.Arg358Lys)
|
rs372544390
|
0.00021
|
NM_001367624.2(ZNF469):c.9850G>A (p.Gly3284Arg)
|
rs773064083
|
0.00021
|
NM_001367805.3(KIF23):c.690A>G (p.Ile230Met)
|
rs199679829
|
0.00021
|
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)
|
rs112355069
|
0.00021
|
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)
|
rs374983276
|
0.00021
|
NM_001853.4(COL9A3):c.1708T>C (p.Ser570Pro)
|
rs199886210
|
0.00021
|
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val)
|
rs147948716
|
0.00021
|
NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=)
|
rs72944827
|
0.00021
|
NM_006514.4(SCN10A):c.4552G>A (p.Val1518Ile)
|
rs202040659
|
0.00021
|
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr)
|
rs140288103
|
0.00021
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_024876.4(COQ8B):c.1364A>G (p.Tyr455Cys)
|
rs144343899
|
0.00021
|
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)
|
rs150157112
|
0.00021
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)
|
rs140639242
|
0.00021
|
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)
|
rs372318616
|
0.00020
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_000064.4(C3):c.2050G>A (p.Gly684Ser)
|
rs201872466
|
0.00020
|
NM_000124.4(ERCC6):c.1801G>A (p.Gly601Ser)
|
rs138758064
|
0.00020
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg)
|
rs141911213
|
0.00020
|
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys)
|
rs150154235
|
0.00020
|
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg)
|
rs201283647
|
0.00020
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)
|
rs149787233
|
0.00020
|
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys)
|
rs375816870
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser)
|
rs147282497
|
0.00020
|
NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn)
|
rs143641292
|
0.00020
|
NM_004722.4(AP4M1):c.295G>A (p.Glu99Lys)
|
rs200347699
|
0.00020
|
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu)
|
rs143227399
|
0.00020
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
0.00020
|
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln)
|
rs200781310
|
0.00020
|
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)
|
rs34227547
|
0.00020
|
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys)
|
rs200673902
|
0.00020
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
NM_000064.4(C3):c.1923C>T (p.Asp641=)
|
rs113044084
|
0.00019
|
NM_000132.4(F8):c.1018G>A (p.Glu340Lys)
|
rs781954986
|
0.00019
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000175.5(GPI):c.214-12G>A
|
rs369778460
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)
|
rs121913059
|
0.00019
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile)
|
rs146247063
|
0.00019
|
NM_000443.4(ABCB4):c.2784-12T>C
|
rs201498350
|
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_000552.5(VWF):c.1519A>G (p.Arg507Gly)
|
rs189409574
|
0.00019
|
NM_001081.4(CUBN):c.5926+5G>A
|
rs143301088
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001148.6(ANK2):c.8463C>A (p.Asp2821Glu)
|
rs780668435
|
0.00019
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)
|
rs374876608
|
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.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
NM_001360016.2(G6PD):c.864+17A>T
|
rs377041776
|
0.00019
|
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro)
|
rs121918643
|
0.00019
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)
|
rs143877538
|
0.00019
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)
|
rs372193033
|
0.00019
|
NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp)
|
rs140202346
|
0.00019
|
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)
|
rs397515338
|
0.00019
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_030773.4(TUBB1):c.400C>T (p.Gln134Ter)
|
rs199948010
|
0.00019
|
NM_030787.4(CFHR5):c.508G>A (p.Val170Met)
|
rs201073457
|
0.00019
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
NM_198578.4(LRRK2):c.3683G>C (p.Ser1228Thr)
|
rs60185966
|
0.00019
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
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_000546.6(TP53):c.1014C>T (p.Phe338=)
|
rs150293825
|
0.00018
|
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)
|
rs200615848
|
0.00018
|
NM_001148.6(ANK2):c.2836C>T (p.Arg946Cys)
|
rs200524407
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys)
|
rs141555457
|
0.00018
|
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp)
|
rs139467141
|
0.00018
|
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly)
|
rs138391404
|
0.00018
|
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys)
|
rs114501042
|
0.00018
|
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile)
|
rs201273304
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_130468.4(CHST14):c.471G>A (p.Val157=)
|
rs200761477
|
0.00018
|
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)
|
rs199643834
|
0.00018
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00018
|
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu)
|
rs138344683
|
0.00018
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)
|
rs150882838
|
0.00017
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)
|
rs576536458
|
0.00017
|
NM_000124.4(ERCC6):c.4400G>A (p.Arg1467Gln)
|
rs145554525
|
0.00017
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser)
|
rs145054469
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
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_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_001177316.2(SLC34A3):c.448+1G>A
|
rs150841256
|
0.00017
|
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp)
|
rs577066020
|
0.00017
|
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)
|
rs146185976
|
0.00017
|
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)
|
rs200010849
|
0.00017
|
NM_005502.4(ABCA1):c.2444A>G (p.Glu815Gly)
|
rs145582736
|
0.00017
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00017
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00017
|
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)
|
rs200541858
|
0.00017
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000135.4(FANCA):c.3409-9C>G
|
rs368943794
|
0.00016
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_000414.4(HSD17B4):c.1437+25A>C
|
rs181609312
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000666.3(ACY1):c.805A>G (p.Met269Val)
|
rs201775925
|
0.00016
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu)
|
rs747301309
|
0.00016
|
NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser)
|
rs543115615
|
0.00016
|
NM_001199563.2(POPDC1):c.574A>G (p.Asn192Asp)
|
rs145098126
|
0.00016
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
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.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys)
|
rs370539335
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
NM_002972.4(SBF1):c.3985G>A (p.Ala1329Thr)
|
rs372950672
|
0.00016
|
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr)
|
rs150544263
|
0.00016
|
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)
|
rs147858673
|
0.00016
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)
|
rs115452881
|
0.00016
|
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala)
|
rs752204035
|
0.00016
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
|
rs201163739
|
0.00016
|
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)
|
rs140665334
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)
|
rs138846118
|
0.00016
|
NM_022489.4(INF2):c.2053A>G (p.Ile685Val)
|
rs199526439
|
0.00016
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile)
|
rs150279202
|
0.00016
|
NM_198576.4(AGRN):c.384C>G (p.His128Gln)
|
rs768527925
|
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_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala)
|
rs148399096
|
0.00015
|
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)
|
rs142905862
|
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_000742.4(CHRNA2):c.173C>T (p.Thr58Ile)
|
rs151268950
|
0.00015
|
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)
|
rs147003118
|
0.00015
|
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)
|
rs199475953
|
0.00015
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
NM_001267550.2(TTN):c.85091G>A (p.Arg28364Gln)
|
rs376283153
|
0.00015
|
NM_001365276.2(TNXB):c.1480A>T (p.Thr494Ser)
|
rs770149701
|
0.00015
|
NM_002437.5(MPV17):c.461+2T>C
|
rs138199394
|
0.00015
|
NM_004614.5(TK2):c.680C>T (p.Pro227Leu)
|
rs754140768
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_007327.4(GRIN1):c.1012G>A (p.Val338Met)
|
rs140672142
|
0.00015
|
NM_015909.4(NBAS):c.5599C>T (p.Pro1867Ser)
|
rs149044964
|
0.00015
|
NM_021076.4(NEFH):c.1169A>C (p.Asn390Thr)
|
rs148653339
|
0.00015
|
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)
|
rs149418765
|
0.00015
|
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His)
|
rs377150241
|
0.00015
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)
|
rs199688124
|
0.00014
|
NM_000414.4(HSD17B4):c.1767+8T>C
|
rs190659146
|
0.00014
|
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu)
|
rs371738874
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000666.3(ACY1):c.575dup (p.Ser192fs)
|
rs770702363
|
0.00014
|
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr)
|
rs757753448
|
0.00014
|
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala)
|
rs868678918
|
0.00014
|
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys)
|
rs563430855
|
0.00014
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)
|
rs201081803
|
0.00014
|
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)
|
rs200835354
|
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.80666A>G (p.Tyr26889Cys)
|
rs571328201
|
0.00014
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
NM_001330360.2(POLA1):c.3090+6A>G
|
rs370956790
|
0.00014
|
NM_001365999.1(SZT2):c.6961C>T (p.Pro2321Ser)
|
rs776699964
|
0.00014
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys)
|
rs199615869
|
0.00014
|
NM_002336.3(LRP6):c.246A>T (p.Lys82Asn)
|
rs199693693
|
0.00014
|
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)
|
rs766925398
|
0.00014
|
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)
|
rs564887323
|
0.00014
|
NM_003126.4(SPTA1):c.7189G>A (p.Asp2397Asn)
|
rs576803383
|
0.00014
|
NM_004360.5(CDH1):c.1353T>C (p.Ile451=)
|
rs114192597
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004606.5(TAF1):c.235+3G>A
|
rs368024152
|
0.00014
|
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)
|
rs139801016
|
0.00014
|
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu)
|
rs199685739
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_015340.4(LARS2):c.1383T>C (p.Ile461=)
|
rs35347543
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_015937.6(PIGT):c.753G>A (p.Thr251=)
|
rs374179368
|
0.00014
|
NM_018699.4(PRDM5):c.1114G>A (p.Glu372Lys)
|
rs369580755
|
0.00014
|
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888
|
0.00014
|
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp)
|
rs151294221
|
0.00014
|
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)
|
rs200758704
|
0.00014
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00014
|
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)
|
rs369344419
|
0.00014
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000257.4(MYH7):c.3726+6C>T
|
rs377745688
|
0.00013
|
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys)
|
rs201874841
|
0.00013
|
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr)
|
rs374767079
|
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_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)
|
rs190551509
|
0.00013
|
NM_001129820.2(SLFN14):c.1456C>T (p.Arg486Ter)
|
rs192498365
|
0.00013
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)
|
rs373753003
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)
|
rs201422612
|
0.00013
|
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)
|
rs201019681
|
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_001365999.1(SZT2):c.8424G>A (p.Leu2808=)
|
rs372935996
|
0.00013
|
NM_001367624.2(ZNF469):c.11033G>A (p.Ser3678Asn)
|
rs781084356
|
0.00013
|
NM_001909.5(CTSD):c.1077G>A (p.Ser359=)
|
rs138940129
|
0.00013
|
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln)
|
rs150883363
|
0.00013
|
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)
|
rs138608619
|
0.00013
|
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile)
|
rs188709583
|
0.00013
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)
|
rs191486604
|
0.00013
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)
|
rs61735488
|
0.00013
|
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu)
|
rs199730889
|
0.00013
|
NM_021830.5(TWNK):c.434C>T (p.Ala145Val)
|
rs143938897
|
0.00013
|
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)
|
rs137852991
|
0.00013
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His)
|
rs146785878
|
0.00013
|
NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln)
|
rs371674362
|
0.00013
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu)
|
rs77146441
|
0.00013
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000064.4(C3):c.2861G>A (p.Arg954His)
|
rs139864704
|
0.00012
|
NM_000135.4(FANCA):c.3935-6T>C
|
rs368376237
|
0.00012
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
NM_000249.4(MLH1):c.843A>C (p.Ala281=)
|
rs146796765
|
0.00012
|
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)
|
rs148310342
|
0.00012
|
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg)
|
rs373997222
|
0.00012
|
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser)
|
rs565638291
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)
|
rs368806005
|
0.00012
|
NM_001267550.2(TTN):c.51887G>A (p.Arg17296His)
|
rs200456782
|
0.00012
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln)
|
rs370516890
|
0.00012
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00012
|
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met)
|
rs376363284
|
0.00012
|
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)
|
rs748402153
|
0.00012
|
NM_006736.6(DNAJB2):c.230-2A>G
|
rs369661561
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
|
rs143027621
|
0.00012
|
NM_015909.4(NBAS):c.7048G>A (p.Val2350Met)
|
rs138592420
|
0.00012
|
NM_016203.4(PRKAG2):c.1496A>G (p.Gln499Arg)
|
rs781741013
|
0.00012
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)
|
rs375399419
|
0.00012
|
NM_183075.3(CYP2U1):c.1004G>C (p.Ser335Thr)
|
rs142944337
|
0.00012
|
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu)
|
rs376494828
|
0.00012
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
NM_000143.4(FH):c.6C>T (p.Tyr2=)
|
rs199971078
|
0.00011
|
NM_000153.4(GALC):c.328+6A>G
|
rs201977747
|
0.00011
|
NM_000188.3(HK1):c.1015G>A (p.Val339Met)
|
rs138492927
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)
|
rs113817720
|
0.00011
|
NM_000342.4(SLC4A1):c.1193C>T (p.Thr398Ile)
|
rs150913170
|
0.00011
|
NM_000384.3(APOB):c.574G>A (p.Val192Ile)
|
rs200662943
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser)
|
rs200953311
|
0.00011
|
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)
|
rs764148985
|
0.00011
|
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)
|
rs199638166
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
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.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
NM_000744.7(CHRNA4):c.589C>T (p.Arg197Cys)
|
rs144716263
|
0.00011
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn)
|
rs375151459
|
0.00011
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His)
|
rs371267171
|
0.00011
|
NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr)
|
rs375577529
|
0.00011
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
NM_001267550.2(TTN):c.86911G>A (p.Gly28971Arg)
|
rs368921501
|
0.00011
|
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)
|
rs373900294
|
0.00011
|
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)
|
rs373876117
|
0.00011
|
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr)
|
rs141228634
|
0.00011
|
NM_001355436.2(SPTB):c.3103C>T (p.Arg1035Trp)
|
rs143827332
|
0.00011
|
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)
|
rs760803657
|
0.00011
|
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val)
|
rs200876438
|
0.00011
|
NM_001365276.2(TNXB):c.12210+5G>A
|
rs4959085
|
0.00011
|
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter)
|
rs759003928
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val)
|
rs767979763
|
0.00011
|
NM_001953.5(TYMP):c.437G>A (p.Arg146His)
|
rs188802138
|
0.00011
|
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231
|
0.00011
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr)
|
rs147302252
|
0.00011
|
NM_005993.5(TBCD):c.1254G>A (p.Gly418=)
|
rs367985432
|
0.00011
|
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val)
|
rs554062977
|
0.00011
|
NM_006567.5(FARS2):c.792del (p.Asp265fs)
|
rs761097220
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00011
|
NM_016013.4(NDUFAF1):c.926A>C (p.His309Pro)
|
rs746082814
|
0.00011
|
NM_017739.4(POMGNT1):c.652+6G>A
|
rs369289384
|
0.00011
|
NM_020442.6(VARS2):c.736T>C (p.Cys246Arg)
|
rs140184279
|
0.00011
|
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala)
|
rs150057646
|
0.00011
|
NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val)
|
rs139312819
|
0.00011
|
NM_138395.4(MARS2):c.60C>T (p.Leu20=)
|
rs201033319
|
0.00011
|
NM_139276.3(STAT3):c.2228G>T (p.Gly743Val)
|
rs151033214
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_212482.4(FN1):c.2879C>G (p.Thr960Ser)
|
rs565714281
|
0.00011
|
NM_000037.4(ANK1):c.2389-10C>T
|
rs764935260
|
0.00010
|
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)
|
rs183195890
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys)
|
rs147403664
|
0.00010
|
NM_000251.3(MSH2):c.1386+23T>G
|
rs747646424
|
0.00010
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys)
|
rs201678533
|
0.00010
|
NM_000298.6(PKLR):c.1365C>T (p.Thr455=)
|
rs146708702
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)
|
rs61750077
|
0.00010
|
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)
|
rs369717556
|
0.00010
|
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)
|
rs10776
|
0.00010
|
NM_001142864.4(PIEZO1):c.6315C>G (p.Leu2105=)
|
rs564995953
|
0.00010
|
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu)
|
rs570744198
|
0.00010
|
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)
|
rs773532854
|
0.00010
|
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His)
|
rs373589529
|
0.00010
|
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)
|
rs373709706
|
0.00010
|
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)
|
rs371512914
|
0.00010
|
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)
|
rs201857541
|
0.00010
|
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)
|
rs540115992
|
0.00010
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln)
|
rs183238138
|
0.00010
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00010
|
NM_001365276.2(TNXB):c.10369G>T (p.Val3457Leu)
|
rs199623625
|
0.00010
|
NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp)
|
rs56345590
|
0.00010
|
NM_002230.4(JUP):c.926A>G (p.Asn309Ser)
|
rs140606359
|
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_002778.4(PSAP):c.1172C>T (p.Thr391Met)
|
rs202125074
|
0.00010
|
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)
|
rs201711375
|
0.00010
|
NM_004960.4(FUS):c.661_663del (p.Ser221del)
|
rs746633090
|
0.00010
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_015270.5(ADCY6):c.1333C>A (p.His445Asn)
|
rs201102889
|
0.00010
|
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)
|
rs368011392
|
0.00010
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
NM_024422.6(DSC2):c.2314G>A (p.Val772Met)
|
rs146029947
|
0.00010
|
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe)
|
rs141681122
|
0.00010
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)
|
rs750190287
|
0.00010
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)
|
rs138722406
|
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_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
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_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)
|
rs11571654
|
0.00009
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile)
|
rs202240111
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)
|
rs150259097
|
0.00009
|
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)
|
rs41295286
|
0.00009
|
NM_000257.4(MYH7):c.4354-6G>A
|
rs368078397
|
0.00009
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
0.00009
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
NM_000335.5(SCN5A):c.4325A>G (p.Asn1442Ser)
|
rs1473144775
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)
|
rs199473072
|
0.00009
|
NM_000382.3(ALDH3A2):c.1412T>C (p.Phe471Ser)
|
rs141112437
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
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.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001065.4(TNFRSF1A):c.887G>C (p.Ser296Thr)
|
rs770324989
|
0.00009
|
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg)
|
rs781823700
|
0.00009
|
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)
|
rs515726212
|
0.00009
|
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)
|
rs187259531
|
0.00009
|
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)
|
rs201476613
|
0.00009
|
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)
|
rs750027720
|
0.00009
|
NM_001142864.4(PIEZO1):c.7195G>A (p.Gly2399Ser)
|
rs545171267
|
0.00009
|
NM_001206927.2(DNAH8):c.3129T>A (p.Asp1043Glu)
|
rs573755164
|
0.00009
|
NM_001244008.2(KIF1A):c.3871C>T (p.Arg1291Cys)
|
rs199998986
|
0.00009
|
NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu)
|
rs777547090
|
0.00009
|
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)
|
rs371163094
|
0.00009
|
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)
|
rs368425364
|
0.00009
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)
|
rs374914334
|
0.00009
|
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile)
|
rs72646892
|
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.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
NM_001288705.3(CSF1R):c.1283A>G (p.Asn428Ser)
|
rs140815605
|
0.00009
|
NM_001365276.2(TNXB):c.2540G>A (p.Arg847Gln)
|
rs200283439
|
0.00009
|
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)
|
rs143654307
|
0.00009
|
NM_001374736.1(DST):c.22195C>T (p.Arg7399Cys)
|
rs373258036
|
0.00009
|
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)
|
rs779068565
|
0.00009
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
NM_001556.3(IKBKB):c.2087A>G (p.Asn696Ser)
|
rs202226005
|
0.00009
|
NM_001846.4(COL4A2):c.1748A>G (p.Asp583Gly)
|
rs368207474
|
0.00009
|
NM_002294.3(LAMP2):c.1093+2544A>G
|
rs777128122
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)
|
rs375506528
|
0.00009
|
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val)
|
rs372757355
|
0.00009
|
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met)
|
rs55932635
|
0.00009
|
NM_004565.3(PEX14):c.766G>A (p.Val256Met)
|
rs143378690
|
0.00009
|
NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr)
|
rs776604878
|
0.00009
|
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln)
|
rs368906199
|
0.00009
|
NM_005560.6(LAMA5):c.6740C>T (p.Ala2247Val)
|
rs201066079
|
0.00009
|
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile)
|
rs201966169
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)
|
rs147068827
|
0.00009
|
NM_012254.3(SLC27A5):c.1841A>G (p.Gln614Arg)
|
rs202054471
|
0.00009
|
NM_014363.6(SACS):c.1255A>G (p.Ile419Val)
|
rs767818359
|
0.00009
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
NM_016038.4(SBDS):c.388G>A (p.Val130Met)
|
rs201070132
|
0.00009
|
NM_016373.4(WWOX):c.406A>G (p.Ile136Val)
|
rs193027041
|
0.00009
|
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
|
rs369223258
|
0.00009
|
NM_022081.6(HPS4):c.1793C>T (p.Thr598Met)
|
rs149689335
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)
|
rs119480069
|
0.00009
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)
|
rs780569649
|
0.00009
|
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)
|
rs200179979
|
0.00009
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)
|
rs781878105
|
0.00009
|
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)
|
rs139618850
|
0.00009
|
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn)
|
rs750068521
|
0.00008
|
NM_000038.6(APC):c.4212C>A (p.Ser1404=)
|
rs144655979
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000081.4(LYST):c.7627+6A>T
|
rs749282192
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val)
|
rs41310765
|
0.00008
|
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu)
|
rs143684274
|
0.00008
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe)
|
rs190712778
|
0.00008
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00008
|
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly)
|
rs370476812
|
0.00008
|
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)
|
rs373655492
|
0.00008
|
NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala)
|
rs549598246
|
0.00008
|
NM_001267550.2(TTN):c.39709+9G>C
|
rs765647346
|
0.00008
|
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr)
|
rs727504192
|
0.00008
|
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)
|
rs772677752
|
0.00008
|
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)
|
rs56378177
|
0.00008
|
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)
|
rs201463708
|
0.00008
|
NM_001365999.1(SZT2):c.5377G>A (p.Glu1793Lys)
|
rs143185010
|
0.00008
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp)
|
rs375016862
|
0.00008
|
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn)
|
rs199583537
|
0.00008
|
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)
|
rs767911747
|
0.00008
|
NM_006514.4(SCN10A):c.3675T>G (p.Ile1225Met)
|
rs371834340
|
0.00008
|
NM_006514.4(SCN10A):c.3692T>C (p.Ile1231Thr)
|
rs147130891
|
0.00008
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)
|
rs200589374
|
0.00008
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_019616.4(F7):c.413A>G (p.Gln138Arg)
|
rs200016360
|
0.00008
|
NM_020247.5(COQ8A):c.794G>A (p.Arg265His)
|
rs199696414
|
0.00008
|
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr)
|
rs147277743
|
0.00008
|
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)
|
rs137852989
|
0.00008
|
NM_022437.3(ABCG8):c.694+5G>C
|
rs557890655
|
0.00008
|
NM_024411.5(PDYN):c.635G>A (p.Arg212Gln)
|
rs138498390
|
0.00008
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln)
|
rs200412464
|
0.00008
|
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)
|
rs80338696
|
0.00008
|
NM_172362.3(KCNH1):c.2372G>A (p.Arg791His)
|
rs139318016
|
0.00008
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)
|
rs572782576
|
0.00007
|
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)
|
rs530570306
|
0.00007
|
NM_000135.4(FANCA):c.2981+4dup
|
rs75004096
|
0.00007
|
NM_000142.5(FGFR3):c.416A>C (p.Asp139Ala)
|
rs376268669
|
0.00007
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)
|
rs199728019
|
0.00007
|
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)
|
rs149946271
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile)
|
rs370049107
|
0.00007
|
NM_000448.3(RAG1):c.1A>G (p.Met1Val)
|
rs200575481
|
0.00007
|
NM_000455.5(STK11):c.734+20G>A
|
rs375315233
|
0.00007
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
NM_000552.5(VWF):c.658-3C>A
|
rs377196768
|
0.00007
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg)
|
rs758323919
|
0.00007
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
NM_001142864.4(PIEZO1):c.1196-4G>C
|
rs946453254
|
0.00007
|
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys)
|
rs750545429
|
0.00007
|
NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala)
|
rs747961230
|
0.00007
|
NM_001148.6(ANK2):c.7964C>T (p.Ser2655Leu)
|
rs373153154
|
0.00007
|
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)
|
rs727503652
|
0.00007
|
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)
|
rs201229221
|
0.00007
|
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)
|
rs145308734
|
0.00007
|
NM_001267550.2(TTN):c.48844G>A (p.Val16282Ile)
|
rs776265864
|
0.00007
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
NM_001303.4(COX10):c.1193G>A (p.Arg398His)
|
rs200942884
|
0.00007
|
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys)
|
rs201150987
|
0.00007
|
NM_001349206.2(LPIN1):c.1807-2A>G
|
rs533651991
|
0.00007
|
NM_001367624.2(ZNF469):c.9269G>A (p.Arg3090Gln)
|
rs751447615
|
0.00007
|
NM_002230.4(JUP):c.958C>T (p.Arg320Cys)
|
rs200740462
|
0.00007
|
NM_002755.4(MAP2K1):c.1068+18G>A
|
rs369137482
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_003334.4(UBA1):c.253G>A (p.Val85Met)
|
rs782796398
|
0.00007
|
NM_003361.4(UMOD):c.1153C>T (p.Arg385Trp)
|
rs200414962
|
0.00007
|
NM_004006.3(DMD):c.863G>C (p.Arg288Thr)
|
rs767304770
|
0.00007
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)
|
rs762770081
|
0.00007
|
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu)
|
rs373669861
|
0.00007
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)
|
rs551406712
|
0.00007
|
NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile)
|
rs143589497
|
0.00007
|
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His)
|
rs544885605
|
0.00007
|
NM_030962.4(SBF2):c.5074T>C (p.Ser1692Pro)
|
rs776642521
|
0.00007
|
NM_032380.5(GFM2):c.1196T>C (p.Ile399Thr)
|
rs143233751
|
0.00007
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00006
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys)
|
rs80359218
|
0.00006
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=)
|
rs139343205
|
0.00006
|
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)
|
rs187022757
|
0.00006
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)
|
rs371053403
|
0.00006
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala)
|
rs45579032
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)
|
rs199644680
|
0.00006
|
NM_000291.4(PGK1):c.375T>A (p.His125Gln)
|
rs142134146
|
0.00006
|
NM_000310.4(PPT1):c.*6G>A
|
rs113082671
|
0.00006
|
NM_000324.3(RHAG):c.187G>C (p.Val63Leu)
|
rs778934246
|
0.00006
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00006
|
NM_000365.6(TPI1):c.458-18del
|
rs781911173
|
0.00006
|
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser)
|
rs149737825
|
0.00006
|
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser)
|
rs779153546
|
0.00006
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
0.00006
|
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00006
|
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)
|
rs36076514
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
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.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)
|
rs749935207
|
0.00006
|
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp)
|
rs149988492
|
0.00006
|
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)
|
rs587784543
|
0.00006
|
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp)
|
rs768950391
|
0.00006
|
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr)
|
rs377204776
|
0.00006
|
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile)
|
rs782007408
|
0.00006
|
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn)
|
rs377390031
|
0.00006
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr)
|
rs145054594
|
0.00006
|
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys)
|
rs886038886
|
0.00006
|
NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu)
|
rs150016888
|
0.00006
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)
|
rs201119402
|
0.00006
|
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)
|
rs376658420
|
0.00006
|
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser)
|
rs779064623
|
0.00006
|
NM_001267550.2(TTN):c.18893T>C (p.Ile6298Thr)
|
rs375571785
|
0.00006
|
NM_001267550.2(TTN):c.22576G>T (p.Val7526Phe)
|
rs754972548
|
0.00006
|
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)
|
rs369385294
|
0.00006
|
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe)
|
rs746558975
|
0.00006
|
NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala)
|
rs766638714
|
0.00006
|
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe)
|
rs772882862
|
0.00006
|
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)
|
rs369623392
|
0.00006
|
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)
|
rs770902874
|
0.00006
|
NM_001267550.2(TTN):c.55037G>T (p.Arg18346Ile)
|
rs573136400
|
0.00006
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr)
|
rs118161093
|
0.00006
|
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)
|
rs777009984
|
0.00006
|
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu)
|
rs371581072
|
0.00006
|
NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile)
|
rs755669336
|
0.00006
|
NM_001267550.2(TTN):c.70950C>G (p.Asn23650Lys)
|
rs377185608
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)
|
rs764561909
|
0.00006
|
NM_001267550.2(TTN):c.97579G>A (p.Gly32527Ser)
|
rs762160311
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_001363711.2(DUOX2):c.1933G>T (p.Asp645Tyr)
|
rs773358950
|
0.00006
|
NM_001365276.2(TNXB):c.5780T>C (p.Ile1927Thr)
|
rs751320202
|
0.00006
|
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
|
rs199822303
|
0.00006
|
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)
|
rs63750869
|
0.00006
|
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met)
|
rs780829334
|
0.00006
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
NM_002617.4(PEX10):c.752T>C (p.Leu251Pro)
|
rs780507609
|
0.00006
|
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
|
rs753416225
|
0.00006
|
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr)
|
rs118088187
|
0.00006
|
NM_003126.4(SPTA1):c.6136G>A (p.Val2046Met)
|
rs202105292
|
0.00006
|
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)
|
rs121918634
|
0.00006
|
NM_003632.3(CNTNAP1):c.2747A>G (p.Tyr916Cys)
|
rs369859767
|
0.00006
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
NM_003906.5(MCM3AP):c.4319C>T (p.Ala1440Val)
|
rs771441002
|
0.00006
|
NM_004281.4(BAG3):c.1214C>T (p.Ala405Val)
|
rs11199064
|
0.00006
|
NM_004281.4(BAG3):c.785C>T (p.Ala262Val)
|
rs397516883
|
0.00006
|
NM_004415.4(DSP):c.174A>G (p.Gln58=)
|
rs140384933
|
0.00006
|
NM_005502.4(ABCA1):c.1997G>A (p.Arg666Gln)
|
rs142374413
|
0.00006
|
NM_005502.4(ABCA1):c.5245A>G (p.Ile1749Val)
|
rs760346286
|
0.00006
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
NM_006005.3(WFS1):c.977C>T (p.Ala326Val)
|
rs369795224
|
0.00006
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
NM_006516.4(SLC2A1):c.799G>A (p.Ala267Thr)
|
rs199639208
|
0.00006
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
NM_006922.4(SCN3A):c.2077A>G (p.Met693Val)
|
rs138331141
|
0.00006
|
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp)
|
rs755595060
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp)
|
rs147617631
|
0.00006
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00006
|
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe)
|
rs141116831
|
0.00006
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr)
|
rs369907002
|
0.00006
|
NM_017986.4(SLC52A1):c.635G>A (p.Arg212Gln)
|
rs377338075
|
0.00006
|
NM_019616.4(F7):c.364+1G>A
|
rs1056071555
|
0.00006
|
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His)
|
rs538758039
|
0.00006
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108
|
0.00006
|
NM_024120.5(NDUFAF5):c.222+8C>G
|
rs113659919
|
0.00006
|
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)
|
rs149390820
|
0.00006
|
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)
|
rs141873745
|
0.00006
|
NM_024598.4(USB1):c.213G>A (p.Val71=)
|
rs369515724
|
0.00006
|
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)
|
rs200276333
|
0.00006
|
NM_025150.5(TARS2):c.2052G>C (p.Arg684=)
|
rs74443150
|
0.00006
|
NM_030787.4(CFHR5):c.1322G>A (p.Arg441His)
|
rs776063846
|
0.00006
|
NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu)
|
rs544857720
|
0.00006
|
NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu)
|
rs773072116
|
0.00006
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)
|
rs587780255
|
0.00006
|
NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser)
|
rs200169027
|
0.00006
|
NM_138477.4(CDAN1):c.2175-12T>C
|
rs1055175847
|
0.00006
|
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)
|
rs560133266
|
0.00006
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00006
|
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys)
|
rs782531580
|
0.00006
|
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)
|
rs367799134
|
0.00005
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
NM_000179.3(MSH6):c.2239C>T (p.Leu747=)
|
rs63751305
|
0.00005
|
NM_000219.6(KCNE1):c.-5C>A
|
rs191334763
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly)
|
rs929302665
|
0.00005
|
NM_000374.5(UROD):c.199G>T (p.Glu67Ter)
|
rs763086647
|
0.00005
|
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met)
|
rs564452430
|
0.00005
|
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)
|
rs549474196
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)
|
rs543222535
|
0.00005
|
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys)
|
rs187569997
|
0.00005
|
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)
|
rs61749402
|
0.00005
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly)
|
rs374174400
|
0.00005
|
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)
|
rs373089783
|
0.00005
|
NM_001110556.2(FLNA):c.7564G>A (p.Val2522Ile)
|
rs187774579
|
0.00005
|
NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)
|
rs765274398
|
0.00005
|
NM_001267550.2(TTN):c.11855G>A (p.Gly3952Glu)
|
rs779033634
|
0.00005
|
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu)
|
rs769165258
|
0.00005
|
NM_001267550.2(TTN):c.208G>A (p.Val70Met)
|
rs772248060
|
0.00005
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)
|
rs367914610
|
0.00005
|
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val)
|
rs370857722
|
0.00005
|
NM_001283009.2(RTEL1):c.3109+5C>T
|
rs372267276
|
0.00005
|
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter)
|
rs560339163
|
0.00005
|
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs)
|
rs776790336
|
0.00005
|
NM_001849.4(COL6A2):c.116-3C>T
|
rs767597831
|
0.00005
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
NM_002180.3(IGHMBP2):c.1632+4C>T
|
rs775832239
|
0.00005
|
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
|
rs3180515
|
0.00005
|
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)
|
rs373118250
|
0.00005
|
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)
|
rs74382477
|
0.00005
|
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)
|
rs202095223
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile)
|
rs141953092
|
0.00005
|
NM_014049.5(ACAD9):c.1667T>C (p.Ile556Thr)
|
rs548405278
|
0.00005
|
NM_014363.6(SACS):c.1613C>T (p.Ala538Val)
|
rs368043113
|
0.00005
|
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)
|
rs374860681
|
0.00005
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
NM_019616.4(F7):c.868G>A (p.Val290Met)
|
rs201991361
|
0.00005
|
NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys)
|
rs1031720654
|
0.00005
|
NM_021930.6(RINT1):c.1333+1G>A
|
rs375350359
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu)
|
rs747288279
|
0.00005
|
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)
|
rs80338699
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_000041.4(APOE):c.683G>A (p.Trp228Ter)
|
rs121918396
|
0.00004
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)
|
rs60431989
|
0.00004
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00004
|
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)
|
rs45457795
|
0.00004
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)
|
rs148393161
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000108.5(DLD):c.869A>G (p.Asp290Gly)
|
rs143555186
|
0.00004
|
NM_000143.4(FH):c.346A>T (p.Ile116Phe)
|
rs201532589
|
0.00004
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
0.00004
|
NM_000179.3(MSH6):c.2904C>G (p.Val968=)
|
rs150683226
|
0.00004
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)
|
rs876658610
|
0.00004
|
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)
|
rs374840025
|
0.00004
|
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)
|
rs118204109
|
0.00004
|
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser)
|
rs746707121
|
0.00004
|
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)
|
rs368615806
|
0.00004
|
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)
|
rs199473012
|
0.00004
|
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)
|
rs377433038
|
0.00004
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val)
|
rs370941975
|
0.00004
|
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val)
|
rs397516138
|
0.00004
|
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile)
|
rs527384137
|
0.00004
|
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln)
|
rs977717858
|
0.00004
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
|
rs121912757
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)
|
rs567385461
|
0.00004
|
NM_000431.4(MVK):c.608T>C (p.Val203Ala)
|
rs104895332
|
0.00004
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00004
|
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)
|
rs760768552
|
0.00004
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln)
|
rs761209241
|
0.00004
|
NM_000492.4(CFTR):c.1679+9C>G
|
rs775440240
|
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_000519.3(HBD):c.-118C>T
|
rs549964658
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)
|
rs144022753
|
0.00004
|
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys)
|
rs563259179
|
0.00004
|
NM_001042432.2(CLN3):c.*29A>G
|
rs778438984
|
0.00004
|
NM_001042432.2(CLN3):c.125+3G>A
|
rs775577824
|
0.00004
|
NM_001077350.3(NPRL3):c.515C>T (p.Ala172Val)
|
rs778177582
|
0.00004
|
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)
|
rs146272618
|
0.00004
|
NM_001083961.2(WDR62):c.4144C>T (p.Pro1382Ser)
|
rs772768990
|
0.00004
|
NM_001100913.3(PACS2):c.859G>C (p.Asp287His)
|
rs781826931
|
0.00004
|
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys)
|
rs743546
|
0.00004
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001145809.2(MYH14):c.5105T>C (p.Val1702Ala)
|
rs775130663
|
0.00004
|
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala)
|
rs200089542
|
0.00004
|
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)
|
rs727505196
|
0.00004
|
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)
|
rs771136390
|
0.00004
|
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)
|
rs548015673
|
0.00004
|
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)
|
rs202022304
|
0.00004
|
NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala)
|
rs878854290
|
0.00004
|
NM_001267550.2(TTN):c.20842G>A (p.Ala6948Thr)
|
rs147210608
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala)
|
rs768249663
|
0.00004
|
NM_001267550.2(TTN):c.42848G>A (p.Arg14283His)
|
rs767899169
|
0.00004
|
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn)
|
rs765148928
|
0.00004
|
NM_001267550.2(TTN):c.57956A>G (p.Tyr19319Cys)
|
rs369082749
|
0.00004
|
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)
|
rs397517640
|
0.00004
|
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)
|
rs368716894
|
0.00004
|
NM_001267550.2(TTN):c.66778G>C (p.Glu22260Gln)
|
rs553988103
|
0.00004
|
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)
|
rs372388682
|
0.00004
|
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)
|
rs369526268
|
0.00004
|
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp)
|
rs755117644
|
0.00004
|
NM_001267550.2(TTN):c.98750C>T (p.Ser32917Phe)
|
rs561932256
|
0.00004
|
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)
|
rs367841692
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
|
rs769092155
|
0.00004
|
NM_001367624.2(ZNF469):c.4276G>A (p.Glu1426Lys)
|
rs868174994
|
0.00004
|
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met)
|
rs199740595
|
0.00004
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154
|
0.00004
|
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)
|
rs775673512
|
0.00004
|
NM_001378615.1(CC2D2A):c.2090T>C (p.Val697Ala)
|
rs766282869
|
0.00004
|
NM_001698.3(AUH):c.824C>T (p.Ala275Val)
|
rs748318386
|
0.00004
|
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser)
|
rs141418421
|
0.00004
|
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)
|
rs141395813
|
0.00004
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala)
|
rs185950214
|
0.00004
|
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)
|
rs186526524
|
0.00004
|
NM_003049.4(SLC10A1):c.517G>C (p.Gly173Arg)
|
rs750470666
|
0.00004
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00004
|
NM_003119.4(SPG7):c.2096dup (p.Met699fs)
|
rs747503698
|
0.00004
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
NM_004208.4(AIFM1):c.1036G>A (p.Glu346Lys)
|
rs746856770
|
0.00004
|
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
|
rs370339027
|
0.00004
|
NM_005138.3(SCO2):c.752C>T (p.Ser251Leu)
|
rs768228804
|
0.00004
|
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn)
|
rs745497215
|
0.00004
|
NM_005751.5(AKAP9):c.7675A>C (p.Ile2559Leu)
|
rs757278868
|
0.00004
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
NM_006516.4(SLC2A1):c.114+18G>A
|
rs745580526
|
0.00004
|
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met)
|
rs142986731
|
0.00004
|
NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val)
|
rs753757778
|
0.00004
|
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr)
|
rs756205069
|
0.00004
|
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu)
|
rs747031778
|
0.00004
|
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser)
|
rs772106134
|
0.00004
|
NM_007194.4(CHEK2):c.*2dup
|
rs749257861
|
0.00004
|
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)
|
rs200591364
|
0.00004
|
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)
|
rs199881455
|
0.00004
|
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met)
|
rs751176093
|
0.00004
|
NM_014363.6(SACS):c.12367A>G (p.Met4123Val)
|
rs772068772
|
0.00004
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)
|
rs191995849
|
0.00004
|
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)
|
rs772611372
|
0.00004
|
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
|
rs749327297
|
0.00004
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
NM_016006.6(ABHD5):c.70C>T (p.Leu24Phe)
|
rs773350263
|
0.00004
|
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser)
|
rs61751491
|
0.00004
|
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)
|
rs868354713
|
0.00004
|
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)
|
rs371138642
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met)
|
rs369383271
|
0.00004
|
NM_021098.3(CACNA1H):c.5209G>A (p.Ala1737Thr)
|
rs61372944
|
0.00004
|
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)
|
rs547583131
|
0.00004
|
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp)
|
rs145994112
|
0.00004
|
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter)
|
rs780540757
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_139027.6(ADAMTS13):c.2746C>T (p.Arg916Cys)
|
rs374444423
|
0.00004
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_172351.3(CD46):c.293C>T (p.Thr98Ile)
|
rs116800126
|
0.00004
|
NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr)
|
rs541209817
|
0.00004
|
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln)
|
rs200176579
|
0.00004
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
|
rs782237314
|
0.00003
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)
|
rs121907999
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)
|
rs80359177
|
0.00003
|
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)
|
rs200844059
|
0.00003
|
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)
|
rs760674518
|
0.00003
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
NM_000090.4(COL3A1):c.2446-10T>C
|
rs1060500195
|
0.00003
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)
|
rs368311455
|
0.00003
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000179.3(MSH6):c.*10A>C
|
rs757778351
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)
|
rs61751644
|
0.00003
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
NM_000251.3(MSH2):c.2458+8C>G
|
rs189025757
|
0.00003
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)
|
rs587781795
|
0.00003
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000314.8(PTEN):c.-105G>T
|
rs1316552000
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
|
rs199473101
|
0.00003
|
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)
|
rs571740084
|
0.00003
|
NM_000374.5(UROD):c.842G>T (p.Gly281Val)
|
rs121918057
|
0.00003
|
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)
|
rs375640462
|
0.00003
|
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys)
|
rs60373464
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1734A>G (p.Leu578=)
|
rs201025424
|
0.00003
|
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu)
|
rs397508567
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met)
|
rs370851779
|
0.00003
|
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)
|
rs761224660
|
0.00003
|
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys)
|
rs773026490
|
0.00003
|
NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe)
|
rs747516623
|
0.00003
|
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)
|
rs200004126
|
0.00003
|
NM_000552.5(VWF):c.2025G>A (p.Pro675=)
|
rs779045480
|
0.00003
|
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)
|
rs760888275
|
0.00003
|
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met)
|
rs186015395
|
0.00003
|
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)
|
rs568198475
|
0.00003
|
NM_001105206.3(LAMA4):c.1411T>C (p.Phe471Leu)
|
rs782067046
|
0.00003
|
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn)
|
rs375495397
|
0.00003
|
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)
|
rs376774130
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001142864.4(PIEZO1):c.1442G>A (p.Arg481His)
|
rs947487272
|
0.00003
|
NM_001142864.4(PIEZO1):c.6754-14T>C
|
rs958476496
|
0.00003
|
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser)
|
rs764674361
|
0.00003
|
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val)
|
rs375256600
|
0.00003
|
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)
|
rs72648936
|
0.00003
|
NM_001267550.2(TTN):c.23308G>A (p.Gly7770Arg)
|
rs374739582
|
0.00003
|
NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala)
|
rs778611558
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.46147G>C (p.Glu15383Gln)
|
rs773073914
|
0.00003
|
NM_001267550.2(TTN):c.5698G>A (p.Val1900Met)
|
rs750823043
|
0.00003
|
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)
|
rs145649088
|
0.00003
|
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His)
|
rs371821218
|
0.00003
|
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)
|
rs749633038
|
0.00003
|
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)
|
rs371645048
|
0.00003
|
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu)
|
rs201379132
|
0.00003
|
NM_001283009.2(RTEL1):c.396-27T>C
|
rs774523585
|
0.00003
|
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met)
|
rs775272996
|
0.00003
|
NM_001355436.2(SPTB):c.5279C>T (p.Ala1760Val)
|
rs778913256
|
0.00003
|
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys)
|
rs764560431
|
0.00003
|
NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val)
|
rs746338306
|
0.00003
|
NM_001370595.2(COA8):c.476+7G>A
|
rs114895750
|
0.00003
|
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu)
|
rs200985982
|
0.00003
|
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln)
|
rs200245855
|
0.00003
|
NM_001830.4(CLCN4):c.1319C>T (p.Thr440Met)
|
rs376745468
|
0.00003
|
NM_002180.3(IGHMBP2):c.1756+4C>T
|
rs778913429
|
0.00003
|
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)
|
rs138374063
|
0.00003
|
NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys)
|
rs199971000
|
0.00003
|
NM_002972.4(SBF1):c.3058A>G (p.Ile1020Val)
|
rs560106517
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro)
|
rs121918636
|
0.00003
|
NM_004006.3(DMD):c.4049G>A (p.Arg1350His)
|
rs750981128
|
0.00003
|
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)
|
rs148810193
|
0.00003
|
NM_004085.4(TIMM8A):c.251C>T (p.Thr84Ile)
|
rs201897402
|
0.00003
|
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser)
|
rs587781898
|
0.00003
|
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)
|
rs121909625
|
0.00003
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
NM_006514.4(SCN10A):c.5694del (p.Ala1899fs)
|
rs747321219
|
0.00003
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
NM_007327.4(GRIN1):c.2589+6G>T
|
rs200395927
|
0.00003
|
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)
|
rs143747297
|
0.00003
|
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg)
|
rs886050826
|
0.00003
|
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu)
|
rs774349752
|
0.00003
|
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)
|
rs201752905
|
0.00003
|
NM_015713.5(RRM2B):c.329G>A (p.Arg110His)
|
rs267607025
|
0.00003
|
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)
|
rs886285802
|
0.00003
|
NM_018006.5(TRMU):c.1246G>T (p.Gly416Cys)
|
rs150043707
|
0.00003
|
NM_018699.4(PRDM5):c.1741G>A (p.Ala581Thr)
|
rs759782529
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)
|
rs762811727
|
0.00003
|
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys)
|
rs182464375
|
0.00003
|
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)
|
rs535014010
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_024757.5(EHMT1):c.86-5G>A
|
rs371370370
|
0.00003
|
NM_130837.3(OPA1):c.187T>A (p.Ser63Thr)
|
rs777179811
|
0.00003
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr)
|
rs199995144
|
0.00003
|
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
|
rs199422327
|
0.00002
|
NM_000038.6(APC):c.8199A>G (p.Gln2733=)
|
rs372365378
|
0.00002
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00002
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)
|
rs774511818
|
0.00002
|
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)
|
rs80356687
|
0.00002
|
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)
|
rs774396430
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)
|
rs755914340
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000175.5(GPI):c.1227G>A (p.Pro409=)
|
rs774225651
|
0.00002
|
NM_000179.3(MSH6):c.1007C>G (p.Thr336Ser)
|
rs587782102
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.166_171dup (p.54GP[3])
|
rs786201776
|
0.00002
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter)
|
rs863225420
|
0.00002
|
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)
|
rs150694809
|
0.00002
|
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)
|
rs752302466
|
0.00002
|
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)
|
rs774440277
|
0.00002
|
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)
|
rs775390721
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
NM_000312.4(PROC):c.169C>T (p.Arg57Trp)
|
rs757583846
|
0.00002
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00002
|
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)
|
rs199814707
|
0.00002
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000540.3(RYR1):c.7027+4A>T
|
rs753538619
|
0.00002
|
NM_000546.6(TP53):c.18A>C (p.Ser6=)
|
rs573130482
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile)
|
rs201769220
|
0.00002
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln)
|
rs764212214
|
0.00002
|
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln)
|
rs121912267
|
0.00002
|
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)
|
rs755148895
|
0.00002
|
NM_001110556.2(FLNA):c.1580G>A (p.Arg527His)
|
rs782450368
|
0.00002
|
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)
|
rs782129236
|
0.00002
|
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys)
|
rs199422208
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met)
|
rs947100716
|
0.00002
|
NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg)
|
rs151127289
|
0.00002
|
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)
|
rs754449549
|
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.17596G>T (p.Gly5866Cys)
|
rs753136638
|
0.00002
|
NM_001267550.2(TTN):c.26599G>A (p.Gly8867Arg)
|
rs762113080
|
0.00002
|
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln)
|
rs397517520
|
0.00002
|
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr)
|
rs377564388
|
0.00002
|
NM_001267550.2(TTN):c.49701A>G (p.Ser16567=)
|
rs369646977
|
0.00002
|
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)
|
rs727504490
|
0.00002
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
NM_001349253.2(SCN11A):c.1970T>C (p.Met657Thr)
|
rs374430641
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)
|
rs757836263
|
0.00002
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
NM_001367624.2(ZNF469):c.7846C>T (p.Arg2616Cys)
|
rs1315180615
|
0.00002
|
NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr)
|
rs201897431
|
0.00002
|
NM_001498.4(GCLC):c.12G>A (p.Leu4=)
|
rs201410638
|
0.00002
|
NM_002230.4(JUP):c.521C>T (p.Ala174Val)
|
rs146786437
|
0.00002
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)
|
rs111033568
|
0.00002
|
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser)
|
rs929328527
|
0.00002
|
NM_003126.4(SPTA1):c.209T>G (p.Met70Arg)
|
rs1469938477
|
0.00002
|
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)
|
rs587784349
|
0.00002
|
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)
|
rs757212984
|
0.00002
|
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys)
|
rs368114420
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)
|
rs140513454
|
0.00002
|
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val)
|
rs747284663
|
0.00002
|
NM_004484.4(GPC3):c.1114G>A (p.Val372Ile)
|
rs140756498
|
0.00002
|
NM_004655.4(AXIN2):c.135C>T (p.Val45=)
|
rs376726966
|
0.00002
|
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys)
|
rs755356387
|
0.00002
|
NM_005548.3(KARS1):c.1695+4C>T
|
rs747781002
|
0.00002
|
NM_005548.3(KARS1):c.690A>T (p.Arg230Ser)
|
rs1370913867
|
0.00002
|
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)
|
rs758258471
|
0.00002
|
NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter)
|
rs1335308693
|
0.00002
|
NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met)
|
rs145568435
|
0.00002
|
NM_006517.5(SLC16A2):c.148G>A (p.Glu50Lys)
|
rs756065515
|
0.00002
|
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln)
|
rs759206588
|
0.00002
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
0.00002
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
NM_012200.4(B3GAT3):c.2T>C (p.Met1Thr)
|
rs772496010
|
0.00002
|
NM_014053.4(FLVCR1):c.139_151del (p.Phe47fs)
|
rs1358722147
|
0.00002
|
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys)
|
rs76475298
|
0.00002
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)
|
rs148824690
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val)
|
rs121918311
|
0.00002
|
NM_015909.4(NBAS):c.256A>C (p.Lys86Gln)
|
rs200344246
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)
|
rs777411661
|
0.00002
|
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)
|
rs548098742
|
0.00002
|
NM_024422.6(DSC2):c.1456G>A (p.Val486Met)
|
rs188634770
|
0.00002
|
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp)
|
rs776401728
|
0.00002
|
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)
|
rs537049075
|
0.00002
|
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp)
|
rs730880422
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys)
|
rs530896300
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_172351.3(CD46):c.535G>C (p.Glu179Gln)
|
rs779174212
|
0.00002
|
NC_000011.10:g.47335872C>T
|
rs398123280
|
0.00001
|
NM_000018.4(ACADVL):c.1183-15A>G
|
rs765390290
|
0.00001
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)
|
rs1131691686
|
0.00001
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)
|
rs76180859
|
0.00001
|
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
|
rs200849757
|
0.00001
|
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)
|
rs137852831
|
0.00001
|
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu)
|
rs149828124
|
0.00001
|
NM_000038.6(APC):c.5952T>C (p.Asn1984=)
|
rs142019870
|
0.00001
|
NM_000039.3(APOA1):c.101G>T (p.Arg34Leu)
|
rs28929476
|
0.00001
|
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro)
|
rs372520221
|
0.00001
|
NM_000051.4(ATM):c.507T>C (p.Ser169=)
|
rs758619186
|
0.00001
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)
|
rs886043423
|
0.00001
|
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)
|
rs1395504465
|
0.00001
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)
|
rs1206016866
|
0.00001
|
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)
|
rs193922110
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000059.4(BRCA2):c.10085T>C (p.Phe3362Ser)
|
rs756978580
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys)
|
rs80358664
|
0.00001
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
rs80358967
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=)
|
rs776992904
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
rs80359077
|
0.00001
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)
|
rs756438139
|
0.00001
|
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)
|
rs779701414
|
0.00001
|
NM_000080.4(CHRNE):c.1033-1G>C
|
rs755303686
|
0.00001
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala)
|
rs766461654
|
0.00001
|
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)
|
rs72659306
|
0.00001
|
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
NM_000090.4(COL3A1):c.898-14A>G
|
rs763316592
|
0.00001
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)
|
rs1044894207
|
0.00001
|
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys)
|
rs768589918
|
0.00001
|
NM_000128.4(F11):c.595+3A>G
|
rs933333847
|
0.00001
|
NM_000132.4(F8):c.1660A>G (p.Ser554Gly)
|
rs137852419
|
0.00001
|
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)
|
rs1490417405
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)
|
rs1161109360
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.655G>A (p.Asp219Asn)
|
rs11545656
|
0.00001
|
NM_000143.4(FH):c.908T>C (p.Leu303Ser)
|
rs201502246
|
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.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu)
|
rs80222298
|
0.00001
|
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)
|
rs398123532
|
0.00001
|
NM_000157.4(GBA1):c.701G>A (p.Gly234Glu)
|
rs74462743
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
NM_000178.4(GSS):c.754C>T (p.Arg252Ter)
|
rs749741013
|
0.00001
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)
|
rs864622324
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000179.3(MSH6):c.2830A>G (p.Ile944Val)
|
rs878853723
|
0.00001
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000186.4(CFH):c.2783-8T>A
|
rs1351891195
|
0.00001
|
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)
|
rs460184
|
0.00001
|
NM_000188.3(HK1):c.2304C>T (p.Phe768=)
|
rs770824752
|
0.00001
|
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)
|
rs575222284
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000237.3(LPL):c.397C>T (p.Gln133Ter)
|
rs118204058
|
0.00001
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
0.00001
|
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)
|
rs587781750
|
0.00001
|
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)
|
rs587779952
|
0.00001
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)
|
rs267607995
|
0.00001
|
NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)
|
rs374399939
|
0.00001
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
NM_000251.3(MSH2):c.877A>G (p.Thr293Ala)
|
rs1296650088
|
0.00001
|
NM_000251.3(MSH2):c.95C>G (p.Thr32Ser)
|
rs552361923
|
0.00001
|
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)
|
rs397515966
|
0.00001
|
NM_000256.3(MYBPC3):c.418G>C (p.Ala140Pro)
|
rs730880614
|
0.00001
|
NM_000257.4(MYH7):c.1358G>A (p.Arg453His)
|
rs397516101
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)
|
rs564101364
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000257.4(MYH7):c.5011A>G (p.Ile1671Val)
|
rs1456418703
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr)
|
rs1165604977
|
0.00001
|
NM_000298.6(PKLR):c.307del (p.Arg103fs)
|
rs1433205059
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)
|
rs779687673
|
0.00001
|
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)
|
rs199473097
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)
|
rs28931584
|
0.00001
|
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)
|
rs768426818
|
0.00001
|
NM_000342.4(SLC4A1):c.1269C>T (p.Phe423=)
|
rs768727937
|
0.00001
|
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)
|
rs1398477044
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)
|
rs11541790
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)
|
rs730881165
|
0.00001
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)
|
rs745721296
|
0.00001
|
NM_000384.3(APOB):c.2676G>A (p.Pro892=)
|
rs759072451
|
0.00001
|
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)
|
rs751217000
|
0.00001
|
NM_000388.4(CASR):c.2039G>A (p.Arg680His)
|
rs773146939
|
0.00001
|
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg)
|
rs765570396
|
0.00001
|
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr)
|
rs372812220
|
0.00001
|
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=)
|
rs773825862
|
0.00001
|
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr)
|
rs762874073
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys)
|
rs1202763005
|
0.00001
|
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys)
|
rs1250956327
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)
|
rs1266914122
|
0.00001
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
NM_000443.4(ABCB4):c.1006-1G>T
|
rs772823352
|
0.00001
|
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp)
|
rs199776076
|
0.00001
|
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)
|
rs1424014997
|
0.00001
|
NM_000455.5(STK11):c.947C>G (p.Ala316Gly)
|
rs751709130
|
0.00001
|
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)
|
rs62625011
|
0.00001
|
NM_000487.6(ARSA):c.248T>C (p.Leu83Pro)
|
rs1190061000
|
0.00001
|
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)
|
rs199476382
|
0.00001
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)
|
rs397508494
|
0.00001
|
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp)
|
rs746103666
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000506.5(F2):c.1814_1815del (p.His605fs)
|
rs776618390
|
0.00001
|
NM_000508.3(FGA):c.112A>G (p.Arg38Gly)
|
rs121909608
|
0.00001
|
NM_000508.3(FGA):c.92G>T (p.Gly31Val)
|
rs121909605
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn)
|
rs879255142
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr)
|
rs761765254
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_000530.8(MPZ):c.385G>A (p.Val129Ile)
|
rs201156403
|
0.00001
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.974G>T (p.Gly325Val)
|
rs121912659
|
0.00001
|
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys)
|
rs45517178
|
0.00001
|
NM_000552.5(VWF):c.2372C>T (p.Thr791Met)
|
rs61748477
|
0.00001
|
NM_000637.5(GSR):c.882+6G>A
|
rs558898648
|
0.00001
|
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met)
|
rs752677964
|
0.00001
|
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr)
|
rs373687005
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)
|
rs371707778
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001035.3(RYR2):c.4626G>A (p.Ala1542=)
|
rs1272771676
|
0.00001
|
NM_001040142.2(SCN2A):c.2236T>G (p.Leu746Val)
|
rs772195737
|
0.00001
|
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
|
rs762813092
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met)
|
rs483352704
|
0.00001
|
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu)
|
rs782168634
|
0.00001
|
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
|
rs797045044
|
0.00001
|
NM_001110556.2(FLNA):c.720+5A>T
|
rs1569551860
|
0.00001
|
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)
|
rs1340029095
|
0.00001
|
NM_001114753.3(ENG):c.-10C>T
|
rs756994701
|
0.00001
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter)
|
rs754313121
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)
|
rs749742102
|
0.00001
|
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)
|
rs769399113
|
0.00001
|
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu)
|
rs770886605
|
0.00001
|
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln)
|
rs387907347
|
0.00001
|
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln)
|
rs559847737
|
0.00001
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
NM_001164508.2(NEB):c.781G>C (p.Asp261His)
|
rs1167204757
|
0.00001
|
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp)
|
rs565013143
|
0.00001
|
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu)
|
rs773561397
|
0.00001
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg)
|
rs876658047
|
0.00001
|
NM_001267550.2(TTN):c.25A>T (p.Thr9Ser)
|
rs1298028827
|
0.00001
|
NM_001267550.2(TTN):c.26482+1G>C
|
rs1440418037
|
0.00001
|
NM_001267550.2(TTN):c.27667T>C (p.Ser9223Pro)
|
rs201253546
|
0.00001
|
NM_001267550.2(TTN):c.40939A>G (p.Lys13647Glu)
|
rs777187629
|
0.00001
|
NM_001267550.2(TTN):c.45248G>A (p.Arg15083Gln)
|
rs191551032
|
0.00001
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)
|
rs749678590
|
0.00001
|
NM_001267550.2(TTN):c.51055C>T (p.Arg17019Cys)
|
rs773394284
|
0.00001
|
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)
|
rs535008556
|
0.00001
|
NM_001267550.2(TTN):c.55341G>A (p.Pro18447=)
|
rs779464399
|
0.00001
|
NM_001267550.2(TTN):c.68786C>T (p.Ser22929Leu)
|
rs764365298
|
0.00001
|
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)
|
rs727505284
|
0.00001
|
NM_001267550.2(TTN):c.82933C>T (p.Arg27645Cys)
|
rs751318609
|
0.00001
|
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)
|
rs532818379
|
0.00001
|
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter)
|
rs1060500525
|
0.00001
|
NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp)
|
rs774885355
|
0.00001
|
NM_001267550.2(TTN):c.89645G>A (p.Ser29882Asn)
|
rs755022770
|
0.00001
|
NM_001267550.2(TTN):c.90799A>G (p.Thr30267Ala)
|
rs377365979
|
0.00001
|
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)
|
rs727504501
|
0.00001
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)
|
rs201989042
|
0.00001
|
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)
|
rs773025155
|
0.00001
|
NM_001303.4(COX10):c.982G>A (p.Ala328Thr)
|
rs777911169
|
0.00001
|
NM_001358921.2(COQ2):c.800C>T (p.Thr267Met)
|
rs761785906
|
0.00001
|
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser)
|
rs75235010
|
0.00001
|
NM_001365276.2(TNXB):c.9271C>G (p.Leu3091Val)
|
rs748558173
|
0.00001
|
NM_001365951.3(KIF1B):c.3625C>G (p.Leu1209Val)
|
rs1320246121
|
0.00001
|
NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn)
|
rs568820656
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter)
|
rs137853123
|
0.00001
|
NM_001376013.1(EPB41):c.1331G>A (p.Arg444His)
|
rs374316682
|
0.00001
|
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)
|
rs533568822
|
0.00001
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088
|
0.00001
|
NM_001625.4(AK2):c.202A>G (p.Met68Val)
|
rs548856916
|
0.00001
|
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys)
|
rs377320274
|
0.00001
|
NM_001972.4(ELANE):c.364C>T (p.Gln122Ter)
|
rs1303279241
|
0.00001
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser)
|
rs200832275
|
0.00001
|
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile)
|
rs527639885
|
0.00001
|
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp)
|
rs748019294
|
0.00001
|
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys)
|
rs782191011
|
0.00001
|
NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile)
|
rs372557475
|
0.00001
|
NM_002691.4(POLD1):c.1148C>T (p.Thr383Ile)
|
rs201654210
|
0.00001
|
NM_002693.3(POLG):c.3347T>C (p.Met1116Thr)
|
rs764036283
|
0.00001
|
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)
|
rs771613524
|
0.00001
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)
|
rs191525506
|
0.00001
|
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln)
|
rs752713997
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003126.4(SPTA1):c.4339-2A>C
|
rs368931075
|
0.00001
|
NM_003126.4(SPTA1):c.5040C>T (p.Asn1680=)
|
rs749363866
|
0.00001
|
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly)
|
rs199547344
|
0.00001
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter)
|
rs794729175
|
0.00001
|
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)
|
rs886043986
|
0.00001
|
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)
|
rs139641883
|
0.00001
|
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)
|
rs398124041
|
0.00001
|
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser)
|
rs570294713
|
0.00001
|
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser)
|
rs747846089
|
0.00001
|
NM_004329.3(BMPR1A):c.676-5T>C
|
rs200537780
|
0.00001
|
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)
|
rs201327438
|
0.00001
|
NM_004655.4(AXIN2):c.1962C>A (p.Gly654=)
|
rs377642903
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_005051.3(QARS1):c.1525C>T (p.Arg509Trp)
|
rs553194272
|
0.00001
|
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile)
|
rs587778249
|
0.00001
|
NM_005359.6(SMAD4):c.693C>T (p.Gly231=)
|
rs765597059
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala)
|
rs1557042798
|
0.00001
|
NM_006231.4(POLE):c.369G>A (p.Lys123=)
|
rs1328407908
|
0.00001
|
NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln)
|
rs587784395
|
0.00001
|
NM_006922.4(SCN3A):c.3387C>A (p.Ser1129Arg)
|
rs774375940
|
0.00001
|
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr)
|
rs749520121
|
0.00001
|
NM_007126.5(VCP):c.1460G>A (p.Arg487His)
|
rs767379602
|
0.00001
|
NM_007126.5(VCP):c.278G>A (p.Arg93His)
|
rs779959657
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)
|
rs763958615
|
0.00001
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007289.4(MME):c.877C>T (p.Arg293Ter)
|
rs764060752
|
0.00001
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter)
|
rs771533907
|
0.00001
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)
|
rs774044532
|
0.00001
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
0.00001
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)
|
rs1327898921
|
0.00001
|
NM_014845.6(FIG4):c.2547-1G>A
|
rs769858739
|
0.00001
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
NM_015559.3(SETBP1):c.4205G>A (p.Arg1402Gln)
|
rs371946489
|
0.00001
|
NM_017739.4(POMGNT1):c.652+1G>T
|
rs386834035
|
0.00001
|
NM_018238.4(AGK):c.880C>A (p.Leu294Ile)
|
rs139547145
|
0.00001
|
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)
|
rs121964927
|
0.00001
|
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)
|
rs376347405
|
0.00001
|
NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val)
|
rs567016348
|
0.00001
|
NM_020376.4(PNPLA2):c.1266G>A (p.Trp422Ter)
|
rs944560685
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr)
|
rs546287338
|
0.00001
|
NM_021870.2(FGG):c.902G>A (p.Arg301His)
|
rs121913088
|
0.00001
|
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)
|
rs368423685
|
0.00001
|
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)
|
rs554680915
|
0.00001
|
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)
|
rs1463651673
|
0.00001
|
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=)
|
rs775742250
|
0.00001
|
NM_024407.5(NDUFS7):c.54-5G>A
|
rs775718887
|
0.00001
|
NM_024422.6(DSC2):c.777C>T (p.Gly259=)
|
rs565694087
|
0.00001
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
NM_024996.7(GFM1):c.776A>G (p.Asn259Ser)
|
rs375512235
|
0.00001
|
NM_025099.6(CTC1):c.775G>A (p.Val259Met)
|
rs387907080
|
0.00001
|
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr)
|
rs774281852
|
0.00001
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
0.00001
|
NM_033641.4(COL4A6):c.1987G>A (p.Gly663Ser)
|
rs139988853
|
0.00001
|
NM_130837.3(OPA1):c.205C>G (p.Pro69Ala)
|
rs750775588
|
0.00001
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln)
|
rs373569027
|
0.00001
|
NM_144672.4(OTOA):c.1249C>T (p.Leu417Phe)
|
rs764182550
|
0.00001
|
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln)
|
rs375352888
|
0.00001
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)
|
rs727503443
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp)
|
rs879253898
|
0.00001
|
NM_172351.3(CD46):c.287-2A>G
|
rs759813089
|
0.00001
|
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)
|
rs772294726
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys)
|
rs755358293
|
0.00001
|
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp)
|
rs371996957
|
0.00001
|
G6PD NARA
|
rs587776730
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000020.3(ACVRL1):c.1048+1G>A
|
rs2139074368
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)
|
rs1555154144
|
|
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)
|
rs863223416
|
|
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter)
|
rs2139068677
|
|
NM_000020.3(ACVRL1):c.626-3C>G
|
rs1555152899
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
|
rs750085854
|
|
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala)
|
rs63751229
|
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000037.4(ANK1):c.1801-17G>A
|
rs786205243
|
|
NM_000037.4(ANK1):c.2098-5T>C
|
rs2150613009
|
|
NM_000037.4(ANK1):c.3984+2T>C
|
rs1818974494
|
|
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)
|
rs2150661792
|
|
NM_000037.4(ANK1):c.5197C>T (p.Gln1733Ter)
|
|
|
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu)
|
rs183864227
|
|
NM_000038.6(APC):c.1229dup (p.Leu410fs)
|
rs863225308
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.1609del (p.Ser537fs)
|
rs863225317
|
|
NM_000038.6(APC):c.1626+1G>A
|
rs1554081934
|
|
NM_000038.6(APC):c.1690C>T (p.Arg564Ter)
|
rs137854574
|
|
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter)
|
rs863225340
|
|
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter)
|
rs863225348
|
|
NM_000038.6(APC):c.423-3T>A
|
rs587782293
|
|
NM_000038.6(APC):c.423-3_423-2del
|
rs863225354
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter)
|
rs863225357
|
|
NM_000038.6(APC):c.475dup (p.Tyr159fs)
|
rs863225361
|
|
NM_000038.6(APC):c.487C>T (p.Gln163Ter)
|
rs863225362
|
|
NM_000038.6(APC):c.5145del (p.Asp1715fs)
|
rs863225363
|
|
NM_000038.6(APC):c.5804dup (p.Ser1936fs)
|
rs863225367
|
|
NM_000038.6(APC):c.645+1G>A
|
rs863225370
|
|
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)
|
rs755046558
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
NM_000038.6(APC):c.904C>T (p.Arg302Ter)
|
rs137854568
|
|
NM_000038.6(APC):c.935dup (p.Glu313fs)
|
rs587781451
|
|
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del)
|
rs532489785
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)
|
rs1402584432
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
NM_000051.4(ATM):c.3746+4A>C
|
rs1555092593
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.8202dup (p.Cys2735fs)
|
rs2136695766
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000053.4(ATP7B):c.-210A>T
|
|
|
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)
|
rs1176709391
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys)
|
rs1202766392
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)
|
rs1057516479
|
|
NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn)
|
rs2138663905
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
NM_000059.4(BRCA2):c.121C>T (p.Pro41Ser)
|
rs80358415
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
rs80358777
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
rs766173
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser)
|
rs1057519826
|
|
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)
|
rs121909583
|
|
NM_000064.4(C3):c.3303C>G (p.Cys1101Trp)
|
rs1236557685
|
|
NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His)
|
|
|
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
|
|
|
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)
|
rs369773321
|
|
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)
|
rs193922144
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)
|
rs72645355
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)
|
rs794728040
|
|
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)
|
rs112371422
|
|
NM_000092.5(COL4A4):c.2420del (p.Gly807fs)
|
rs786205640
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000121.4(EPOR):c.1505C>G (p.Pro502Arg)
|
|
|
NM_000132.4(F8):c.1589A>G (p.Tyr530Cys)
|
rs1557281265
|
|
NM_000132.4(F8):c.5399G>A (p.Arg1800His)
|
rs137852442
|
|
NM_000132.4(F8):c.5843T>C (p.Leu1948Pro)
|
|
|
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
|
|
|
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys)
|
rs137852464
|
|
NM_000132.4(F8):c.871G>A (p.Glu291Lys)
|
|
|
NM_000133.4(F9):c.1328T>C (p.Ile443Thr)
|
rs137852268
|
|
NM_000133.4(F9):c.845A>G (p.His282Arg)
|
rs753654616
|
|
NM_000133.4(F9):c.947T>C (p.Ile316Thr)
|
rs1603267344
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)
|
rs142919010
|
|
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)
|
rs587778324
|
|
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)
|
rs794728165
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)
|
rs1064794282
|
|
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser)
|
rs1060501026
|
|
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer)
|
rs1566905976
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6953G>C (p.Cys2318Ser)
|
rs1555394626
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)
|
rs886038786
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
NM_000143.4(FH):c.1067T>A (p.Leu356Ter)
|
rs727503927
|
|
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)
|
rs863224004
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.668_669del (p.Lys223fs)
|
rs886039364
|
|
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)
|
rs2070956
|
|
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu)
|
rs2228424
|
|
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro)
|
rs61996282
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.293dup (p.Leu98fs)
|
rs757799254
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
|
|
|
NM_000155.4(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.4(GALT):c.155C>G (p.Pro52Arg)
|
rs2132341621
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000155.4(GALT):c.299C>G (p.Pro100Arg)
|
rs1057524572
|
|
NM_000155.4(GALT):c.385A>T (p.Met129Leu)
|
rs193922248
|
|
NM_000155.4(GALT):c.413C>G (p.Thr138Arg)
|
rs111033686
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)
|
rs1450426641
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg)
|
rs786200979
|
|
NM_000157.4(GBA1):c.816A>C (p.Glu272Asp)
|
rs2148075570
|
|
NM_000158.4(GBE1):c.1447-40dup
|
rs11376242
|
|
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)
|
rs104894435
|
|
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)
|
rs1602348876
|
|
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)
|
rs863224471
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)
|
rs144994244
|
|
NM_000173.7(GP1BA):c.763A>G (p.Met255Val)
|
rs121908064
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter)
|
rs1432436629
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)
|
rs863225398
|
|
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr)
|
rs754231971
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1312dup (p.Met438fs)
|
rs863225399
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)
|
rs863225401
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2187C>A (p.Ala729=)
|
rs375610656
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del)
|
rs587782858
|
|
NM_000179.3(MSH6):c.260+3A>G
|
rs1553408474
|
|
NM_000179.3(MSH6):c.2805_2806del (p.Asp936fs)
|
rs863225403
|
|
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)
|
rs587781372
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
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.3260C>A (p.Pro1087His)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=)
|
rs544518097
|
|
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs)
|
rs863225409
|
|
NM_000179.3(MSH6):c.3646+35_3646+38del
|
rs1805181
|
|
NM_000179.3(MSH6):c.3647-15A>G
|
rs371171254
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.369A>T (p.Lys123Asn)
|
rs587782106
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
NM_000179.3(MSH6):c.3802-7_3802-4del
|
rs876661171
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000179.3(MSH6):c.3999dup (p.Arg1334fs)
|
rs863225418
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.818G>T (p.Gly273Val)
|
rs769610487
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)
|
|
|
NM_000186.4(CFH):c.2871C>A (p.Tyr957Ter)
|
|
|
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)
|
rs2149118712
|
|
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)
|
rs460897
|
|
NM_000186.4(CFH):c.694C>T (p.Arg232Ter)
|
rs755790570
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_000190.4(HMBS):c.655G>C (p.Ala219Pro)
|
rs767103817
|
|
NM_000190.4(HMBS):c.866_869del (p.Asp289fs)
|
|
|
NM_000190.4(HMBS):c.940_941del (p.Gln314fs)
|
rs1407093112
|
|
NM_000195.5(HPS1):c.1925del (p.Gly642fs)
|
rs2136083690
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000199.5(SGSH):c.88+23C>G
|
rs77032342
|
|
NM_000202.8(IDS):c.419-6del
|
rs781852261
|
|
NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
|
rs115790973
|
|
NM_000204.5(CFI):c.485G>A (p.Gly162Asp)
|
|
|
NM_000212.3(ITGB3):c.92_93del (p.Cys31fs)
|
|
|
NM_000214.3(JAG1):c.2682+1G>T
|
rs1568792238
|
|
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)
|
rs199472765
|
|
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)
|
rs779383393
|
|
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)
|
rs199472767
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)
|
rs120074178
|
|
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)
|
rs199472753
|
|
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)
|
rs199472754
|
|
NM_000231.3(SGCG):c.599del (p.Ser200fs)
|
rs886043860
|
|
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter)
|
rs2128839600
|
|
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)
|
rs199472905
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser)
|
rs199473527
|
|
NM_000238.4(KCNH2):c.209A>G (p.His70Arg)
|
rs199473419
|
|
NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser)
|
rs794728411
|
|
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)
|
rs199473421
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
NM_000249.4(MLH1):c.1032del (p.Phe344fs)
|
rs1553648225
|
|
NM_000249.4(MLH1):c.1039-3C>G
|
rs730881737
|
|
NM_000249.4(MLH1):c.1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr)
|
rs63751701
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs)
|
rs863225376
|
|
NM_000249.4(MLH1):c.1719del (p.Leu574fs)
|
rs863225377
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
NM_000249.4(MLH1):c.1990-2A>G
|
rs267607883
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2059del (p.Arg687fs)
|
rs863225381
|
|
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)
|
rs63750114
|
|
NM_000249.4(MLH1):c.2103+1G>A
|
rs267607888
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp)
|
rs863225382
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)
|
rs63750781
|
|
NM_000249.4(MLH1):c.545+1G>T
|
rs267607765
|
|
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)
|
rs863225383
|
|
NM_000249.4(MLH1):c.673dup (p.Ser225fs)
|
rs1575469505
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.67del (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.793del (p.Arg265fs)
|
rs863225384
|
|
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser)
|
rs63750656
|
|
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)
|
rs876658657
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)
|
rs863225386
|
|
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
NM_000251.3(MSH2):c.1302del (p.Val435fs)
|
rs863225389
|
|
NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)
|
rs370970617
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs)
|
rs587779120
|
|
NM_000251.3(MSH2):c.2005+2dup
|
rs541623924
|
|
NM_000251.3(MSH2):c.2005+3_2005+14del
|
rs587779125
|
|
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
NM_000251.3(MSH2):c.20del (p.Glu7fs)
|
rs267607915
|
|
NM_000251.3(MSH2):c.212-4dup
|
rs746333570
|
|
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)
|
rs863225395
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)
|
rs587779164
|
|
NM_000251.3(MSH2):c.793-1G>A
|
rs863225397
|
|
NM_000251.3(MSH2):c.851C>A (p.Ser284Tyr)
|
rs776501892
|
|
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)
|
rs1064794809
|
|
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)
|
rs730880633
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
NM_000256.3(MYBPC3):c.1791-1G>A
|
rs2142859427
|
|
NM_000256.3(MYBPC3):c.1927+1G>A
|
rs2142859053
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
|
rs397515982
|
|
NM_000256.3(MYBPC3):c.2995-1G>A
|
rs730880584
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys)
|
rs730880602
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)
|
rs121913626
|
|
NM_000257.4(MYH7):c.2858A>T (p.Asp953Val)
|
rs730880901
|
|
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn)
|
rs886039204
|
|
NM_000257.4(MYH7):c.755T>C (p.Phe252Ser)
|
rs727505202
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)
|
rs86312
|
|
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg)
|
rs1379683835
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.2131-21dup
|
rs11299077
|
|
NM_000271.5(NPC1):c.2131-5_2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2604+15dup
|
rs746440359
|
|
NM_000271.5(NPC1):c.2604+30del
|
rs746440359
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000286.3(PEX12):c.681-3_681-2del
|
rs138568975
|
|
NM_000287.4(PEX6):c.2095-21_2095-10del
|
rs772869377
|
|
NM_000288.4(PEX7):c.747+20_747+24del
|
rs199624608
|
|
NM_000288.4(PEX7):c.748-5del
|
rs563675060
|
|
NM_000291.4(PGK1):c.937-17dup
|
rs782576397
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000293.3(PHKB):c.2457del (p.Glu820fs)
|
rs1322527832
|
|
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)
|
rs112030253
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000297.4(PKD2):c.843G>A (p.Lys281=)
|
rs1727333486
|
|
NM_000298.6(PKLR):c.1168G>A (p.Asp390Asn)
|
rs147034239
|
|
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr)
|
rs1403323591
|
|
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp)
|
rs755522396
|
|
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser)
|
rs139002629
|
|
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu)
|
rs138476691
|
|
NM_000304.4(PMP22):c.396C>A (p.Tyr132Ter)
|
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
NM_000312.4(PROC):c.1155G>A (p.Met385Ile)
|
rs1688692415
|
|
NM_000312.4(PROC):c.1207G>A (p.Gly403Arg)
|
|
|
NM_000312.4(PROC):c.1212dup (p.Pro405fs)
|
rs1333329860
|
|
NM_000312.4(PROC):c.185A>C (p.Glu62Ala)
|
rs121918148
|
|
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del)
|
rs1436671530
|
|
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)
|
rs7614835
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000314.6(PTEN):c.-1027C>A
|
rs587781128
|
|
NM_000314.8(PTEN):c.-500GGC[7]
|
rs1237307954
|
|
NM_000314.8(PTEN):c.-546GGC[6]
|
rs34413673
|
|
NM_000314.8(PTEN):c.-838C>T
|
rs786201900
|
|
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr)
|
rs1554893824
|
|
NM_000314.8(PTEN):c.212G>T (p.Cys71Phe)
|
rs1554897856
|
|
NM_000314.8(PTEN):c.39_40del (p.Arg14fs)
|
rs587776671
|
|
NM_000314.8(PTEN):c.402_404del (p.Met134del)
|
rs1554898152
|
|
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)
|
rs864622341
|
|
NM_000314.8(PTEN):c.802-3del
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-51_802-14del
|
rs557364463
|
|
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)
|
rs1057518865
|
|
NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile)
|
rs199473096
|
|
NM_000335.5(SCN5A):c.1338+2T>A
|
rs786204839
|
|
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)
|
rs397517953
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs)
|
rs1559720961
|
|
NM_000336.3(SCNN1B):c.1032C>T (p.Ile344=)
|
|
|
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)
|
rs28931585
|
|
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)
|
rs750930293
|
|
NM_000342.4(SLC4A1):c.1561C>T (p.Gln521Ter)
|
rs2144612096
|
|
NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=)
|
rs2144611947
|
|
NM_000342.4(SLC4A1):c.1810del (p.Val604fs)
|
|
|
NM_000342.4(SLC4A1):c.1987ATG[1] (p.Met664del)
|
|
|
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter)
|
rs13306787
|
|
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter)
|
rs2047358814
|
|
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys)
|
rs770569237
|
|
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter)
|
rs2144601189
|
|
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)
|
rs373916826
|
|
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met)
|
rs2047337144
|
|
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)
|
rs148170067
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
NM_000363.5(TNNI3):c.562G>A (p.Val188Met)
|
rs193922409
|
|
NM_000363.5(TNNI3):c.611G>A (p.Arg204His)
|
rs727504275
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
NM_000371.4(TTR):c.365C>G (p.Pro122Arg)
|
rs11541793
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000374.5(UROD):c.921dup (p.Cys308fs)
|
rs2148983625
|
|
NM_000377.3(WAS):c.244T>C (p.Ser82Pro)
|
rs132630272
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)
|
rs387906257
|
|
NM_000382.3(ALDH3A2):c.386-6A>G
|
rs117330764
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
NM_000384.3(APOB):c.5954C>T (p.Thr1985Ile)
|
rs778618250
|
|
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)
|
rs1576875819
|
|
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu)
|
rs1553768989
|
|
NM_000388.4(CASR):c.413C>T (p.Thr138Met)
|
rs121909263
|
|
NM_000388.4(CASR):c.488C>G (p.Pro163Arg)
|
|
|
NM_000388.4(CASR):c.514A>G (p.Arg172Gly)
|
rs201851934
|
|
NM_000388.4(CASR):c.554G>T (p.Arg185Leu)
|
rs104893689
|
|
NM_000391.4(TPP1):c.887-6del
|
rs35039601
|
|
NM_000391.4(TPP1):c.887-8_887-6del
|
rs35039601
|
|
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del)
|
rs749662916
|
|
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)
|
rs387906468
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000404.4(GLB1):c.792+10G>T
|
rs79518579
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.236G>A (p.Arg79Lys)
|
rs760219197
|
|
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly)
|
rs780127363
|
|
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)
|
rs143680577
|
|
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys)
|
rs56173620
|
|
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs)
|
rs867012156
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)
|
rs200796753
|
|
NM_000432.4(MYL2):c.188del (p.Asn63fs)
|
rs1177936172
|
|
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.1531T>C (p.Cys511Arg)
|
|
|
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
|
|
|
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys)
|
rs2145443744
|
|
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)
|
rs1599395616
|
|
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys)
|
rs1188569102
|
|
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)
|
rs1064794216
|
|
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe)
|
rs2046807248
|
|
NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr)
|
rs1432396805
|
|
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)
|
rs137852642
|
|
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)
|
rs28933696
|
|
NM_000435.3(NOTCH3):c.6233G>A (p.Arg2078Gln)
|
|
|
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)
|
rs1555729452
|
|
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)
|
rs753104429
|
|
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
|
|
|
NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)
|
|
|
NM_000454.5(SOD1):c.69G>C (p.Gln23His)
|
rs1424217272
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
|
|
|
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
|
|
|
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
|
rs35350960
|
|
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val)
|
rs200903749
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000488.4(SERPINC1):c.277del (p.Thr93fs)
|
|
|
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.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs)
|
rs1301983423
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
|
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
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.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)
|
rs150683293
|
|
NM_000492.4(CFTR):c.4243-7del
|
rs878854021
|
|
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)
|
rs1562876459
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000505.4(F12):c.115G>A (p.Val39Ile)
|
|
|
NM_000508.3(FGA):c.1358G>A (p.Ser453Asn)
|
rs121909610
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
NM_000518.4(HBB):c.98T>C (p.Leu33Pro)
|
rs33948578
|
|
NM_000518.5(HBB):c.316-14T>G
|
rs35703285
|
|
NM_000518.5(HBB):c.33C>A (p.Ala11=)
|
rs35799536
|
|
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)
|
rs36015961
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
|
|
|
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)
|
rs1205480064
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)
|
rs1555803908
|
|
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
|
rs1054487
|
|
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)
|
rs121913603
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7])
|
rs3838786
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.695T>C (p.Ile232Thr)
|
rs587781589
|
|
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)
|
rs121912652
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.836G>A (p.Gly279Glu)
|
rs1064793881
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2355G>A (p.Gln785=)
|
rs2088708544
|
|
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)
|
rs730882034
|
|
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)
|
rs368366214
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000552.5(VWF):c.3802C>G (p.His1268Asp)
|
rs61749371
|
|
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)
|
rs61749395
|
|
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu)
|
rs61750072
|
|
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)
|
rs61750100
|
|
NM_000552.5(VWF):c.4571T>G (p.Val1524Gly)
|
rs2136412301
|
|
NM_000552.5(VWF):c.7483del (p.Leu2495fs)
|
rs1229452874
|
|
NM_000552.5(VWF):c.7774G>A (p.Gly2592Arg)
|
|
|
NM_000574.5(CD55):c.155G>C (p.Arg52Pro)
|
rs28371588
|
|
NM_000628.5(IL10RB):c.727G>T (p.Ala243Ser)
|
rs1058861
|
|
NM_000637.5(GSR):c.943G>A (p.Gly315Ser)
|
|
|
NM_000642.3(AGL):c.4162-11G>A
|
rs184309460
|
|
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)
|
rs786205753
|
|
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
NM_000799.4(EPO):c.-152_-131del
|
|
|
NM_000892.5(KLKB1):c.451dup (p.Ser151fs)
|
rs560588447
|
|
NM_001002010.5(NT5C3A):c.895-2A>G
|
rs1583884979
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu)
|
rs75282758
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)
|
rs2151801188
|
|
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys)
|
rs1458516705
|
|
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)
|
rs1567191874
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1])
|
rs763199524
|
|
NM_001012339.3(DNAJC21):c.434A>G (p.Asp145Gly)
|
|
|
NM_001025295.3(IFITM5):c.376T>G (p.Phe126Val)
|
|
|
NM_001025356.3(ANO6):c.2028C>T (p.Phe676=)
|
|
|
NM_001025356.3(ANO6):c.2293G>A (p.Gly765Arg)
|
|
|
NM_001035.3(RYR2):c.13476+8_13476+11dup
|
rs864309562
|
|
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)
|
rs794728813
|
|
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)
|
rs794728761
|
|
NM_001039.4(SCNN1G):c.401C>T (p.Ser134Phe)
|
|
|
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs)
|
rs750744696
|
|
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr)
|
rs148409389
|
|
NM_001040108.2(MLH3):c.3154del (p.Leu1052fs)
|
rs745657036
|
|
NM_001040108.2(MLH3):c.911G>T (p.Gly304Val)
|
rs540533901
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
NM_001040436.3(YARS2):c.201dup (p.Gly68fs)
|
rs1555137047
|
|
NM_001040436.3(YARS2):c.930G>A (p.Pro310=)
|
rs147551647
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042492.3(NF1):c.204+1G>A
|
rs886039548
|
|
NM_001042492.3(NF1):c.204+1G>T
|
rs886039548
|
|
NM_001042492.3(NF1):c.2268del (p.Arg758fs)
|
rs2151426865
|
|
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu)
|
rs878853893
|
|
NM_001048174.2(MUTYH):c.305-4C>A
|
rs767717597
|
|
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)
|
rs58447305
|
|
NM_001080449.3(DNA2):c.1058-6del
|
rs201474338
|
|
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu)
|
rs73274785
|
|
NM_001080449.3(DNA2):c.720-15dup
|
rs34191745
|
|
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)
|
rs776299562
|
|
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile)
|
rs201941745
|
|
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu)
|
rs1555504721
|
|
NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs)
|
rs747870811
|
|
NM_001098816.3(TENM4):c.3818A>G (p.His1273Arg)
|
|
|
NM_001098816.3(TENM4):c.4316G>A (p.Arg1439His)
|
rs201076845
|
|
NM_001099922.3(ALG13):c.2754ACC[11] (p.Pro942_Pro945del)
|
rs750710267
|
|
NM_001103146.3(GIGYF2):c.3512A>G (p.His1171Arg)
|
|
|
NM_001110556.2(FLNA):c.1691+6G>A
|
rs1557178889
|
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
|
|
NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser)
|
rs1557175287
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)
|
|
|
NM_001114753.3(ENG):c.1311G>C (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)
|
rs1554809363
|
|
NM_001114753.3(ENG):c.1428+1G>A
|
rs863223542
|
|
NM_001114753.3(ENG):c.1429-1G>A
|
rs2131876244
|
|
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)
|
rs1564466414
|
|
NM_001114753.3(ENG):c.392dup (p.Val133fs)
|
|
|
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)
|
rs1588583488
|
|
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
|
rs1830602163
|
|
NM_001114753.3(ENG):c.67+2T>C
|
rs2131936480
|
|
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)
|
rs1060501415
|
|
NM_001114753.3(ENG):c.895del (p.Leu299fs)
|
rs1064795636
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001122764.3(PPOX):c.1082dup (p.Gly362fs)
|
|
|
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)
|
rs786204784
|
|
NM_001126049.2(KLLN):c.-794_-783del
|
rs587781340
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp)
|
rs149660944
|
|
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)
|
rs387906970
|
|
NM_001129.5(AEBP1):c.655del (p.Glu219fs)
|
|
|
NM_001129820.2(SLFN14):c.1012C>T (p.Arg338Trp)
|
|
|
NM_001130004.2(ACTN1):c.2659G>A (p.Ala887Thr)
|
|
|
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)
|
rs778673716
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)
|
rs796734066
|
|
NM_001134363.3(RBM20):c.2802del (p.Ile935fs)
|
rs2135121046
|
|
NM_001135254.2(PAX7):c.1375G>A (p.Gly459Ser)
|
|
|
NM_001142864.4(PIEZO1):c.1009C>T (p.Pro337Ser)
|
|
|
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile)
|
rs902069811
|
|
NM_001142864.4(PIEZO1):c.1364C>T (p.Thr455Met)
|
|
|
NM_001142864.4(PIEZO1):c.1375C>T (p.Arg459Cys)
|
|
|
NM_001142864.4(PIEZO1):c.1534C>T (p.Pro512Ser)
|
|
|
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met)
|
rs2142820621
|
|
NM_001142864.4(PIEZO1):c.2181-14G>A
|
|
|
NM_001142864.4(PIEZO1):c.2247GGA[6] (p.Glu755_Glu756del)
|
rs59446030
|
|
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del)
|
rs59446030
|
|
NM_001142864.4(PIEZO1):c.2857C>T (p.Arg953Cys)
|
|
|
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr)
|
rs770222800
|
|
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu)
|
rs374262841
|
|
NM_001142864.4(PIEZO1):c.3400C>A (p.Arg1134Ser)
|
|
|
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3969-8C>G
|
|
|
NM_001142864.4(PIEZO1):c.4103G>A (p.Arg1368Gln)
|
|
|
NM_001142864.4(PIEZO1):c.4720G>A (p.Glu1574Lys)
|
rs773645030
|
|
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)
|
rs72811487
|
|
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
|
|
|
NM_001142864.4(PIEZO1):c.5413C>T (p.Leu1805Phe)
|
rs201769196
|
|
NM_001142864.4(PIEZO1):c.5602C>T (p.Arg1868Cys)
|
|
|
NM_001142864.4(PIEZO1):c.5681G>A (p.Arg1894Lys)
|
|
|
NM_001142864.4(PIEZO1):c.5720C>T (p.Thr1907Met)
|
|
|
NM_001142864.4(PIEZO1):c.5863C>T (p.Arg1955Cys)
|
|
|
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr)
|
rs587776989
|
|
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del)
|
rs763477215
|
|
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile)
|
rs546338962
|
|
NM_001142864.4(PIEZO1):c.6827C>T (p.Ala2276Val)
|
|
|
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys)
|
|
|
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
|
|
|
NM_001142864.4(PIEZO1):c.7234C>T (p.Arg2412Trp)
|
|
|
NM_001142864.4(PIEZO1):c.7316+4AGTG[3]
|
rs368997650
|
|
NM_001142864.4(PIEZO1):c.7420G>A (p.Val2474Met)
|
|
|
NM_001142864.4(PIEZO1):c.757G>A (p.Gly253Arg)
|
|
|
NM_001142864.4(PIEZO1):c.919G>A (p.Gly307Ser)
|
|
|
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)
|
rs753356694
|
|
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)
|
rs796065338
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001174147.2(LMX1B):c.392C>T (p.Ala131Val)
|
|
|
NM_001174147.2(LMX1B):c.776dup (p.Ser259fs)
|
|
|
NM_001193315.2(VIPAS39):c.488G>A (p.Arg163His)
|
|
|
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_001201550.3(CFHR4):c.1652A>C (p.Lys551Thr)
|
|
|
NM_001201550.3(CFHR4):c.617A>G (p.Asn206Ser)
|
|
|
NM_001205254.2(OCLN):c.469G>T (p.Val157Phe)
|
rs139928771
|
|
NM_001205293.3(CACNA1E):c.5898+6T>G
|
rs1661213734
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
NM_001256007.3(PNPLA8):c.1025A>G (p.Glu342Gly)
|
rs138887728
|
|
NM_001256071.3(RNF213):c.10450G>A (p.Gly3484Ser)
|
|
|
NM_001256071.3(RNF213):c.340C>T (p.Pro114Ser)
|
|
|
NM_001256071.3(RNF213):c.5383G>A (p.Asp1795Asn)
|
|
|
NM_001256071.3(RNF213):c.7583G>A (p.Arg2528Gln)
|
|
|
NM_001256071.3(RNF213):c.9089C>T (p.Pro3030Leu)
|
|
|
NM_001256545.2(MEGF10):c.3215_3216delinsAC (p.Arg1072Asn)
|
rs386692223
|
|
NM_001261826.3(AP3D1):c.2645CCCCCG[3] (p.882AP[3])
|
rs750853882
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.106795G>C (p.Ala35599Pro)
|
|
|
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala)
|
rs1553478042
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
NM_001267550.2(TTN):c.29448AGA[2] (p.Glu9820del)
|
rs377232641
|
|
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser)
|
rs772479207
|
|
NM_001267550.2(TTN):c.43255G>A (p.Val14419Ile)
|
rs529018517
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu)
|
rs72677221
|
|
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs)
|
rs886039125
|
|
NM_001267550.2(TTN):c.47479C>T (p.Gln15827Ter)
|
rs794729261
|
|
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)
|
rs561618839
|
|
NM_001267550.2(TTN):c.51928GAA[2] (p.Glu17312del)
|
rs780745206
|
|
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)
|
rs886042743
|
|
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)
|
rs1559598775
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln)
|
rs368038362
|
|
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn)
|
rs886044012
|
|
NM_001267550.2(TTN):c.80584del (p.Ser26862fs)
|
rs794729348
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met)
|
rs55933739
|
|
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)
|
rs748689777
|
|
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe)
|
rs794729519
|
|
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr)
|
rs767890385
|
|
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter)
|
rs1305222903
|
|
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)
|
rs373366126
|
|
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs)
|
rs769488730
|
|
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)
|
rs780414947
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
|
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)
|
rs727503512
|
|
NM_001278116.2(L1CAM):c.2279G>A (p.Arg760Gln)
|
|
|
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
|
|
|
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
|
|
|
NM_001278116.2(L1CAM):c.3192G>A (p.Ser1064=)
|
|
|
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)
|
rs1554219474
|
|
NM_001278716.2(FBXL4):c.1103+30del
|
rs377101732
|
|
NM_001278716.2(FBXL4):c.1390-1G>A
|
|
|
NM_001288705.3(CSF1R):c.2282A>G (p.Gln761Arg)
|
|
|
NM_001289104.2(PRKCSH):c.1285G>T (p.Glu429Ter)
|
|
|
NM_001292063.2(OTOG):c.432del (p.Gln145fs)
|
rs1393191930
|
|
NM_001321120.2(TBX4):c.702+1G>A
|
rs1555883342
|
|
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His)
|
rs1057519896
|
|
NM_001355436.2(SPTB):c.1342-10G>A
|
rs1037576854
|
|
NM_001355436.2(SPTB):c.154C>T (p.Arg52Trp)
|
rs1594796374
|
|
NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln)
|
rs1452760098
|
|
NM_001355436.2(SPTB):c.1903C>T (p.Gln635Ter)
|
|
|
NM_001355436.2(SPTB):c.1A>G (p.Met1Val)
|
rs121918651
|
|
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter)
|
rs1566775577
|
|
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile)
|
|
|
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)
|
rs150471537
|
|
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)
|
rs760938057
|
|
NM_001355436.2(SPTB):c.4973+5G>A
|
rs1555367789
|
|
NM_001355436.2(SPTB):c.5652G>A (p.Ala1884=)
|
rs146536978
|
|
NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs)
|
rs2139480757
|
|
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)
|
rs1555371769
|
|
NM_001355436.2(SPTB):c.6748AAG[3] (p.Lys2253del)
|
|
|
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)
|
rs1555954154
|
|
NM_001356.5(DDX3X):c.1815_1817del (p.Ser606del)
|
rs2063940085
|
|
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)
|
rs759310292
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
NM_001365276.2(TNXB):c.10199C>T (p.Pro3400Leu)
|
|
|
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)
|
rs201510617
|
|
NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn)
|
rs200523717
|
|
NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn)
|
rs199953230
|
|
NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His)
|
rs61735731
|
|
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)
|
rs140304758
|
|
NM_001365276.2(TNXB):c.8353G>A (p.Glu2785Lys)
|
rs771584531
|
|
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg)
|
rs61745355
|
|
NM_001365276.2(TNXB):c.9044A>G (p.Lys3015Arg)
|
rs1777360602
|
|
NM_001367624.2(ZNF469):c.10079G>T (p.Ser3360Ile)
|
rs929128705
|
|
NM_001367805.3(KIF23):c.1273G>A (p.Val425Met)
|
|
|
NM_001367805.3(KIF23):c.2297A>G (p.Glu766Gly)
|
|
|
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)
|
rs104894261
|
|
NM_001374504.1(TMPRSS6):c.359C>T (p.Thr120Ile)
|
|
|
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp)
|
rs1057519092
|
|
NM_001376013.1(EPB41):c.1522C>T (p.Arg508Ter)
|
|
|
NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)
|
|
|
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)
|
|
|
NM_001376013.1(EPB41):c.628A>G (p.Met210Val)
|
rs1557948192
|
|
NM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr)
|
rs796053281
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001385012.1(NBEA):c.1185A>C (p.Glu395Asp)
|
|
|
NM_001385012.1(NBEA):c.5435C>A (p.Thr1812Asn)
|
|
|
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT
|
rs1555789541
|
|
NM_001388308.1(KIF12):c.1715C>G (p.Thr572Ser)
|
|
|
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs)
|
rs2128936511
|
|
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)
|
rs1402879259
|
|
NM_001458.5(FLNC):c.5763_5764inv (p.Ala1922Thr)
|
|
|
NM_001465.6(FYB1):c.1280C>T (p.Pro427Leu)
|
|
|
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)
|
rs745744124
|
|
NM_001498.4(GCLC):c.-29AGG[4]
|
rs3830798
|
|
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)
|
|
|
NM_001530.4(HIF1A):c.1762G>A (p.Ala588Thr)
|
|
|
NM_001631.5(ALPI):c.274C>T (p.Arg92Cys)
|
|
|
NM_001723.7(DST):c.22del (p.Tyr8fs)
|
rs775912185
|
|
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg)
|
rs1877796698
|
|
NM_001846.4(COL4A2):c.826-1G>T
|
|
|
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)
|
rs1085307560
|
|
NM_001849.4(COL6A2):c.1458+1G>A
|
rs886044526
|
|
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs)
|
rs1555877258
|
|
NM_001854.4(COL11A1):c.361G>A (p.Glu121Lys)
|
|
|
NM_001927.4(DES):c.322G>A (p.Glu108Lys)
|
rs62636490
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001931.5(DLAT):c.381+22dup
|
rs5794771
|
|
NM_001966.4(EHHADH):c.1652G>A (p.Arg551Gln)
|
|
|
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln)
|
rs1064797086
|
|
NM_002055.5(GFAP):c.462-8dup
|
rs572562362
|
|
NM_002076.4(GNS):c.253-10del
|
rs201654719
|
|
NM_002087.4(GRN):c.99C>T (p.Asp33=)
|
rs63750742
|
|
NM_002133.3(HMOX1):c.709C>G (p.Arg237Gly)
|
rs145427664
|
|
NM_002226.5(JAG2):c.2459C>T (p.Ala820Val)
|
|
|
NM_002250.3(KCNN4):c.1018C>A (p.His340Asn)
|
|
|
NM_002292.4(LAMB2):c.2854A>T (p.Ile952Phe)
|
rs146962414
|
|
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)
|
rs2045472442
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
|
rs193922648
|
|
NM_002473.6(MYH9):c.2404C>T (p.Arg802Trp)
|
|
|
NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys)
|
|
|
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu)
|
rs200697030
|
|
NM_002473.6(MYH9):c.3838G>A (p.Val1280Met)
|
rs141582478
|
|
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)
|
rs755547393
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002541.4(OGDH):c.39A>C (p.Pro13=)
|
rs34777281
|
|
NM_002633.3(PGM1):c.1144+3A>T
|
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)
|
rs761080016
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_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[9] (p.Gln54_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.127_128insGGCAGC (p.Arg42_Gln43insArgGln)
|
rs776122200
|
|
NM_002693.3(POLG):c.159A>G (p.Gln53=)
|
rs587781118
|
|
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup)
|
rs760135553
|
|
NM_002693.3(POLG):c.264C>G (p.Phe88Leu)
|
rs144439703
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)
|
rs1085307741
|
|
NM_002693.3(POLG):c.3643+5G>C
|
|
|
NM_002693.3(POLG):c.660-2A>G
|
rs2141806882
|
|
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_002778.4(PSAP):c.1519G>C (p.Glu507Gln)
|
|
|
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu)
|
rs1555267558
|
|
NM_002863.5(PYGL):c.2178-33dup
|
rs11414268
|
|
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys)
|
rs1057524239
|
|
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)
|
rs397516827
|
|
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)
|
rs397516827
|
|
NM_002880.4(RAF1):c.786T>A (p.Asn262Lys)
|
rs397516829
|
|
NM_002979.5(SCP2):c.191_192del (p.Tyr64fs)
|
rs2150121906
|
|
NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser)
|
rs141269120
|
|
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
|
rs876661296
|
|
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro)
|
rs1561560424
|
|
NM_003119.4(SPG7):c.1450-1_1457del
|
rs768823392
|
|
NM_003126.4(SPTA1):c.1300C>G (p.Gln434Glu)
|
|
|
NM_003126.4(SPTA1):c.1350+1G>C
|
|
|
NM_003126.4(SPTA1):c.1406_1408del (p.His469del)
|
rs775280006
|
|
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)
|
rs200829664
|
|
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro)
|
rs200829664
|
|
NM_003126.4(SPTA1):c.1833+1G>A
|
rs1035389616
|
|
NM_003126.4(SPTA1):c.2296G>A (p.Ala766Thr)
|
|
|
NM_003126.4(SPTA1):c.2905C>G (p.Gln969Glu)
|
|
|
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter)
|
rs539524312
|
|
NM_003126.4(SPTA1):c.3622G>A (p.Ala1208Thr)
|
|
|
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
|
|
|
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
|
|
|
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
|
|
|
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
|
rs757679761
|
|
NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup)
|
rs749754226
|
|
NM_003126.4(SPTA1):c.4651C>T (p.Arg1551Ter)
|
|
|
NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp)
|
|
|
NM_003126.4(SPTA1):c.5911-17_5911-8del
|
rs554241455
|
|
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
|
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
NM_003126.4(SPTA1):c.6452G>T (p.Arg2151Ile)
|
|
|
NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs)
|
rs1649424538
|
|
NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer)
|
rs1396249069
|
|
NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro)
|
|
|
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu)
|
rs121918641
|
|
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr)
|
rs150007668
|
|
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp)
|
rs199660234
|
|
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)
|
rs104893811
|
|
NM_003332.4(TYROBP):c.5G>A (p.Gly2Glu)
|
|
|
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)
|
rs1228791562
|
|
NM_003465.3(CHIT1):c.1155_1156+2del
|
rs143439055
|
|
NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val)
|
rs1065761
|
|
NM_003632.3(CNTNAP1):c.3477G>A (p.Val1159=)
|
|
|
NM_003640.5(ELP1):c.138dup (p.Val47fs)
|
rs1564110292
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
|
|
|
NM_003705.5(SLC25A12):c.1172-10del
|
rs535710884
|
|
NM_003705.5(SLC25A12):c.1338A>C (p.Pro446=)
|
rs149278617
|
|
NM_003849.4(SUCLG1):c.98-13_98-11del
|
rs56733272
|
|
NM_003849.4(SUCLG1):c.98-14_98-11del
|
rs56733272
|
|
NM_003850.3(SUCLA2):c.-3_-2del
|
rs570547911
|
|
NM_003907.3(EIF2B5):c.72G>A (p.Pro24=)
|
rs1298889640
|
|
NM_004004.6(GJB2):c.564_565del (p.Lys188fs)
|
rs770116143
|
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
|
NM_004046.6(ATP5F1A):c.483+2T>C
|
rs1555695396
|
|
NM_004115.4(FGF14):c.564del (p.Thr190fs)
|
rs2035456443
|
|
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)
|
rs369639811
|
|
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)
|
rs1589630141
|
|
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)
|
rs746855352
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
NM_004360.5(CDH1):c.2100del (p.Val701fs)
|
rs1555517136
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe)
|
rs200315815
|
|
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)
|
rs201408175
|
|
NM_004444.5(EPHB4):c.650T>A (p.Val217Glu)
|
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
NM_004618.5(TOP3A):c.529C>T (p.Arg177Ter)
|
|
|
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=)
|
rs1131691606
|
|
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup)
|
rs570443161
|
|
NM_004820.5(CYP7B1):c.1150del (p.Asp384fs)
|
rs2129629942
|
|
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)
|
rs537303950
|
|
NM_004958.4(MTOR):c.1226A>T (p.Asp409Val)
|
|
|
NM_004972.4(JAK2):c.2662A>T (p.Thr888Ser)
|
rs1426814242
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_004985.5(KRAS):c.179G>T (p.Gly60Val)
|
rs727503108
|
|
NM_004990.4(MARS1):c.212del (p.Leu71fs)
|
rs751080704
|
|
NM_004991.4(MECOM):c.3383G>A (p.Cys1128Tyr)
|
|
|
NM_005006.7(NDUFS1):c.154-9del
|
rs568965659
|
|
NM_005006.7(NDUFS1):c.2135A>G (p.Lys712Arg)
|
|
|
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)
|
rs1127566
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
NM_005097.4(LGI1):c.108del (p.Lys36fs)
|
rs2133975489
|
|
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
|
|
|
NM_005141.4(FGB):c.130C>T (p.Arg44Cys)
|
rs121909616
|
|
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)
|
rs727504323
|
|
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)
|
rs397517071
|
|
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)
|
rs387906666
|
|
NM_005205.4(COX6A2):c.34T>G (p.Leu12Val)
|
|
|
NM_005214.5(CTLA4):c.118G>A (p.Val40Met)
|
rs1553657378
|
|
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp)
|
rs606231422
|
|
NM_005228.5(EGFR):c.351T>A (p.Tyr117Ter)
|
|
|
NM_005245.4(FAT1):c.7118A>G (p.Asp2373Gly)
|
|
|
NM_005247.4(FGF3):c.45del (p.Trp16fs)
|
|
|
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)
|
rs587780124
|
|
NM_005359.6(SMAD4):c.904+45del
|
rs386387676
|
|
NM_005359.6(SMAD4):c.904+45dup
|
rs386387676
|
|
NM_005422.4(TECTA):c.3451G>A (p.Asp1151Asn)
|
|
|
NM_005422.4(TECTA):c.3692G>A (p.Arg1231Gln)
|
|
|
NM_005475.3(SH2B3):c.232G>A (p.Glu78Lys)
|
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005502.4(ABCA1):c.2311G>C (p.Val771Leu)
|
rs2066718
|
|
NM_005502.4(ABCA1):c.6588G>C (p.Gln2196His)
|
|
|
NM_005560.6(LAMA5):c.4607A>G (p.Gln1536Arg)
|
|
|
NM_005560.6(LAMA5):c.6547G>A (p.Ala2183Thr)
|
|
|
NM_005560.6(LAMA5):c.6940C>T (p.Arg2314Trp)
|
|
|
NM_005609.4(PYGM):c.1621-19del
|
rs571976523
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005619.5(RTN2):c.148G>T (p.Glu50Ter)
|
rs1162797495
|
|
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)
|
rs397517153
|
|
NM_005666.4(CFHR2):c.206G>T (p.Arg69Leu)
|
|
|
NM_005666.4(CFHR2):c.217G>A (p.Ala73Thr)
|
|
|
NM_005666.4(CFHR2):c.656_657del (p.Ile219fs)
|
rs558048038
|
|
NM_005666.4(CFHR2):c.761G>A (p.Arg254Gln)
|
|
|
NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu)
|
|
|
NM_005797.4(MPZL2):c.278A>T (p.Asp93Val)
|
|
|
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle)
|
rs863223769
|
|
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)
|
rs794727798
|
|
NM_005902.4(SMAD3):c.803G>A (p.Arg268His)
|
rs863223740
|
|
NM_005908.4(MANBA):c.1705-13C>T
|
rs34754408
|
|
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)
|
rs111773340
|
|
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu)
|
rs369107336
|
|
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
|
rs150796527
|
|
NM_006208.3(ENPP1):c.715+1G>C
|
|
|
NM_006231.4(POLE):c.1A>T (p.Met1Leu)
|
rs878854847
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.62+1G>A
|
|
|
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)
|
rs794727507
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006514.4(SCN10A):c.5065A>G (p.Arg1689Gly)
|
rs767267531
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006563.5(KLF1):c.864G>A (p.Lys288=)
|
rs1970426484
|
|
NM_006767.4(LZTR1):c.774del (p.Phe258fs)
|
rs780267761
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
NM_006941.4(SOX10):c.601G>A (p.Ala201Thr)
|
|
|
NM_006941.4(SOX10):c.932G>A (p.Ser311Asn)
|
|
|
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)
|
rs35490401
|
|
NM_007098.4(CLTCL1):c.3494G>A (p.Arg1165His)
|
|
|
NM_007103.4(NDUFV1):c.753_756del (p.Pro252fs)
|
rs1229474296
|
|
NM_007126.5(VCP):c.383G>C (p.Gly128Ala)
|
rs1554668979
|
|
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter)
|
rs755795110
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)
|
rs202058123
|
|
NM_007289.4(MME):c.1946T>C (p.Ile649Thr)
|
rs184666602
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser)
|
rs80357113
|
|
NM_007294.4(BRCA1):c.2523G>A (p.Arg841=)
|
rs773013395
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter)
|
rs80356932
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)
|
rs397509257
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
NM_012062.5(DNM1L):c.*21_*22delinsCT
|
rs34421401
|
|
NM_012079.6(DGAT1):c.629_631del (p.Ser210del)
|
rs782577883
|
|
NM_012199.5(AGO1):c.566C>T (p.Pro189Leu)
|
rs1553154069
|
|
NM_012232.6(CAVIN1):c.553_570dup (p.Glu185_Glu190dup)
|
rs537998274
|
|
NM_012254.3(SLC27A5):c.1377+11G>A
|
|
|
NM_013247.5(HTRA2):c.1318C>T (p.Gln440Ter)
|
|
|
NM_013247.5(HTRA2):c.346dup (p.Ala116fs)
|
|
|
NM_013254.4(TBK1):c.1760+4_1760+7del
|
rs753802322
|
|
NM_014053.4(FLVCR1):c.755del (p.Gly252fs)
|
rs773064101
|
|
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile)
|
rs146225600
|
|
NM_014236.4(GNPAT):c.569-11del
|
rs199905093
|
|
NM_014270.5(SLC7A9):c.1399+4_1399+7del
|
rs747593886
|
|
NM_014334.4(FRRS1L):c.566del (p.Pro189fs)
|
rs1831184766
|
|
NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr)
|
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
NM_014363.6(SACS):c.1067T>C (p.Ile356Thr)
|
|
|
NM_014363.6(SACS):c.1123G>A (p.Val375Ile)
|
|
|
NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn)
|
|
|
NM_014363.6(SACS):c.1406G>A (p.Gly469Asp)
|
|
|
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
|
|
|
NM_014363.6(SACS):c.263G>A (p.Arg88Gln)
|
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
|
|
|
NM_014363.6(SACS):c.6221del (p.Asp2074fs)
|
rs1057517366
|
|
NM_014363.6(SACS):c.6278G>A (p.Arg2093His)
|
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
NM_014855.3(AP5Z1):c.1018C>T (p.Pro340Ser)
|
rs561646689
|
|
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)
|
rs186003800
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.239G>T (p.Gly80Val)
|
rs139827903
|
|
NM_014915.3(ANKRD26):c.-118C>T
|
rs1589393759
|
|
NM_014915.3(ANKRD26):c.-128G>T
|
rs1589393809
|
|
NM_014915.3(ANKRD26):c.-77C>G
|
rs546768605
|
|
NM_014915.3(ANKRD26):c.1269+7_1269+12delinsA
|
rs386742210
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_014946.4(SPAST):c.1413+6T>C
|
rs1553318284
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1536G>A (p.Glu512=)
|
rs1553319093
|
|
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs)
|
rs1553319298
|
|
NM_014946.4(SPAST):c.1762T>C (p.Ser588Pro)
|
rs1131691972
|
|
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)
|
rs1553321237
|
|
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)
|
rs560944258
|
|
NM_015294.6(TRIM37):c.810-13dup
|
rs367700401
|
|
NM_015294.6(TRIM37):c.810-3del
|
rs367700401
|
|
NM_015340.4(LARS2):c.945G>A (p.Ser315=)
|
rs145135580
|
|
NM_015340.4(LARS2):c.945G>C (p.Ser315=)
|
rs145135580
|
|
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs)
|
rs1190463308
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015559.3(SETBP1):c.161G>T (p.Arg54Leu)
|
rs140717709
|
|
NM_015559.3(SETBP1):c.3056G>A (p.Arg1019His)
|
|
|
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)
|
rs112033303
|
|
NM_015713.5(RRM2B):c.790-2A>G
|
rs1441534206
|
|
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
|
rs119476050
|
|
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)
|
rs864622520
|
|
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu)
|
rs3204853
|
|
NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln)
|
rs149009126
|
|
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)
|
rs35129734
|
|
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs)
|
|
|
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val)
|
rs201422605
|
|
NM_016373.4(WWOX):c.745C>T (p.Arg249Cys)
|
rs749277249
|
|
NM_016562.4(TLR7):c.3094G>A (p.Ala1032Thr)
|
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_016633.4(AHSP):c.224A>T (p.Asn75Ile)
|
|
|
NM_017547.4(FOXRED1):c.755G>A (p.Arg252His)
|
|
|
NM_017827.4(SARS2):c.1530_1538dup (p.Leu511_Gly513dup)
|
rs551671819
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018109.3(MTPAP):c.-26delT
|
rs749648774
|
|
NM_018122.5(DARS2):c.128-6_128-5dup
|
rs746151025
|
|
NM_018122.5(DARS2):c.128-7_128-5dup
|
rs746151025
|
|
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val)
|
rs972404343
|
|
NM_018122.5(DARS2):c.228-10dup
|
rs374122386
|
|
NM_018122.5(DARS2):c.228-12C>G
|
rs9425753
|
|
NM_018122.5(DARS2):c.228-20del
|
rs143246542
|
|
NM_018122.5(DARS2):c.228-20dup
|
rs143246542
|
|
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe)
|
rs9895963
|
|
NM_018238.4(AGK):c.424-5C>T
|
rs113599212
|
|
NM_018671.5(UNC45A):c.51+5G>A
|
|
|
NM_018896.5(CACNA1G):c.1450C>G (p.Arg484Gly)
|
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg)
|
rs72650768
|
|
NM_019616.4(F7):c.1325del (p.Pro442fs)
|
rs750457207
|
|
NM_019616.4(F7):c.581G>A (p.Gly194Asp)
|
|
|
NM_019616.4(F7):c.685G>A (p.Ala229Thr)
|
|
|
NM_019616.4(F7):c.686C>T (p.Ala229Val)
|
|
|
NM_019616.4(F7):c.739+3_739+6del
|
rs754785708
|
|
NM_020232.5(PSMG2):c.163A>G (p.Met55Val)
|
rs116940091
|
|
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=)
|
rs12593
|
|
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys)
|
rs555171534
|
|
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu)
|
rs142588621
|
|
NM_020442.6(VARS2):c.801G>A (p.Ala267=)
|
|
|
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu)
|
rs61746139
|
|
NM_020821.3(VPS13C):c.7382dup (p.Asn2461fs)
|
rs1315150327
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
NM_020975.6(RET):c.1825T>C (p.Cys609Arg)
|
rs77558292
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)
|
rs121913087
|
|
NM_021870.3(FGG):c.1015A>C (p.Ser339Arg)
|
|
|
NM_021870.3(FGG):c.1086G>A (p.Met362Ile)
|
rs2110841438
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
|
|
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)
|
rs72542426
|
|
NM_022436.3(ABCG5):c.697G>A (p.Val233Ile)
|
|
|
NM_022437.3(ABCG8):c.547del (p.Gln183fs)
|
rs387906323
|
|
NM_022773.4(LMF1):c.938G>A (p.Trp313Ter)
|
|
|
NM_024079.5(ALG8):c.369-6A>G
|
rs201483866
|
|
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)
|
rs372350326
|
|
NM_024312.5(GNPTAB):c.323+11dup
|
rs546617430
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024537.4(CARS2):c.1683dup (p.Ser562fs)
|
rs575601185
|
|
NM_024996.7(GFM1):c.573-1G>C
|
rs2108009356
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)
|
rs763469132
|
|
NM_030773.4(TUBB1):c.340G>A (p.Glu114Lys)
|
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
NM_030787.4(CFHR5):c.1664G>C (p.Arg555Pro)
|
|
|
NM_030787.4(CFHR5):c.206G>A (p.Arg69His)
|
rs375843181
|
|
NM_030787.4(CFHR5):c.254-2_266dup
|
rs781568341
|
|
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro)
|
rs138529008
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_030787.4(CFHR5):c.647A>G (p.Asn216Ser)
|
rs147488267
|
|
NM_030973.4(MED25):c.1795_1803del (p.Ser599_Ala601del)
|
rs764613506
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032119.4(ADGRV1):c.5155G>A (p.Ala1719Thr)
|
|
|
NM_032520.5(GNPTG):c.318-5C>A
|
rs1038742616
|
|
NM_032578.4(MYPN):c.1445G>A (p.Arg482Lys)
|
rs773665854
|
|
NM_032578.4(MYPN):c.2409C>A (p.Ser803Arg)
|
rs3814182
|
|
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)
|
rs148395034
|
|
NM_032620.4(GTPBP3):c.664+23_664+26del
|
rs765975578
|
|
NM_032634.4(PIGO):c.1810dup (p.Arg604fs)
|
rs774508288
|
|
NM_032638.5(GATA2):c.1017+572C>T
|
rs1559985787
|
|
NM_032782.5(HAVCR2):c.349A>C (p.Ile117Leu)
|
|
|
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG
|
rs1554260851
|
|
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)
|
rs1182984115
|
|
NM_033380.3(COL4A5):c.1807G>C (p.Gly603Arg)
|
|
|
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)
|
rs104886073
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del)
|
rs773442562
|
|
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)
|
rs533071750
|
|
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser)
|
rs372806452
|
|
NM_080916.3(DGUOK):c.8C>G (p.Ala3Gly)
|
rs781275867
|
|
NM_130837.3(OPA1):c.1174C>G (p.His392Asp)
|
rs1553877591
|
|
NM_130837.3(OPA1):c.1363C>T (p.Pro455Ser)
|
rs1553877864
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
|
rs141790557
|
|
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)
|
rs374899270
|
|
NM_139027.6(ADAMTS13):c.1109G>A (p.Arg370His)
|
|
|
NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys)
|
rs142214608
|
|
NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp)
|
rs1840934191
|
|
NM_139027.6(ADAMTS13):c.1390G>A (p.Gly464Ser)
|
|
|
NM_139027.6(ADAMTS13):c.2317C>T (p.Gln773Ter)
|
|
|
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs)
|
rs587777417
|
|
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp)
|
rs199599204
|
|
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)
|
rs886039434
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144687.4(NLRP12):c.2072+2dup
|
rs104895565
|
|
NM_144997.7(FLCN):c.1150_1160del (p.Val384fs)
|
|
|
NM_144997.7(FLCN):c.1177-5_1177-3del
|
rs767671406
|
|
NM_144997.7(FLCN):c.1179del (p.Met394fs)
|
rs398124525
|
|
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)
|
rs879255677
|
|
NM_144997.7(FLCN):c.1432+1G>A
|
rs755959303
|
|
NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
|
NM_144997.7(FLCN):c.464_475del (p.Thr155_Ile158del)
|
rs2047178513
|
|
NM_144997.7(FLCN):c.521_527del (p.Thr174fs)
|
rs1085307478
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152268.4(PARS2):c.103AGA[1] (p.Arg36del)
|
rs751997497
|
|
NM_152416.4(NDUFAF6):c.51C>A (p.Ile17=)
|
rs113557846
|
|
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)
|
rs748387885
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
NM_152795.4(HIF3A):c.1672G>A (p.Asp558Asn)
|
|
|
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)
|
rs376104748
|
|
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala)
|
rs1336307815
|
|
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)
|
rs58789393
|
|
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)
|
rs28928902
|
|
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)
|
rs918645468
|
|
NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)
|
|
|
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp)
|
rs796052650
|
|
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro)
|
rs796052656
|
|
NM_172107.4(KCNQ2):c.927+1G>A
|
rs1555870346
|
|
NM_172351.3(CD46):c.1082+2T>G
|
rs1184770295
|
|
NM_172351.3(CD46):c.257G>A (p.Trp86Ter)
|
|
|
NM_172351.3(CD46):c.469T>C (p.Cys157Arg)
|
rs2102552865
|
|
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
|
rs397515345
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)
|
rs606231133
|
|
NM_173660.5(DOK7):c.230C>T (p.Thr77Met)
|
rs940346413
|
|
NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp)
|
rs543547663
|
|
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)
|
rs201454653
|
|
NM_174936.4(PCSK9):c.1537A>G (p.Asn513Asp)
|
rs1057516136
|
|
NM_174936.4(PCSK9):c.1879G>A (p.Glu627Lys)
|
|
|
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)
|
rs966267709
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
NM_182760.4(SUMF1):c.*10_*11delinsGT
|
rs71623163
|
|
NM_182916.3(TRNT1):c.128_130del (p.Glu43del)
|
rs876661297
|
|
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
|
|
|
NM_198252.3(GSN):c.-9-2079_-9-2035del
|
rs1275798438
|
|
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)
|
rs1748613571
|
|
NM_198576.4(AGRN):c.4021G>A (p.Gly1341Arg)
|
rs372543866
|
|
NM_198681.4(PLEKHG5):c.-120C>T
|
rs201669114
|
|
NM_198834.3(ACACA):c.4777-8dup
|
rs149182938
|
|
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met)
|
rs373863249
|
|
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met)
|
rs886044784
|
|
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser)
|
rs121908465
|
|
NR_023317.1(RNU7-1):n.51C>T
|
rs139594532
|
|
Single allele
|
|
|
UGT1A1*28
|
rs3064744
|
|
UGT1A1*37
|
rs3064744
|
|