NM_000169.3(GLA):c.-10C>T
|
rs2071225
|
0.06441
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
NM_015512.5(DNAH1):c.11230C>T (p.Arg3744Cys)
|
rs419752
|
0.03813
|
NM_015512.5(DNAH1):c.1321G>C (p.Val441Leu)
|
rs13060192
|
0.03637
|
NM_005529.7(HSPG2):c.3744-65C>T
|
rs34855688
|
0.03328
|
NM_001243156.2(TAF1C):c.*1082A>G
|
rs2288024
|
0.03108
|
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=)
|
rs61749020
|
0.02545
|
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=)
|
rs142099589
|
0.02381
|
NM_001999.4(FBN2):c.2555-184T>G
|
rs62375019
|
0.02297
|
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)
|
rs114632254
|
0.02153
|
NM_000222.3(KIT):c.2394C>T (p.Ile798=)
|
rs55789615
|
0.02125
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_015046.7(SETX):c.498+20G>A
|
rs73659013
|
0.02106
|
NM_000180.4(GUCY2D):c.3225-7C>T
|
rs79887212
|
0.02045
|
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=)
|
rs142351773
|
0.02033
|
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)
|
rs41312104
|
0.02014
|
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=)
|
rs56034424
|
0.01951
|
NM_032638.5(GATA2):c.1233G>A (p.Ala411=)
|
rs34172218
|
0.01909
|
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)
|
rs1130484
|
0.01851
|
NM_000517.6(HBA2):c.300+55T>G
|
rs2362746
|
0.01848
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met)
|
rs61734638
|
0.01825
|
NM_000138.5(FBN1):c.443-35A>G
|
rs116842662
|
0.01770
|
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys)
|
rs77048718
|
0.01765
|
NM_001081.4(CUBN):c.2571C>T (p.Asn857=)
|
rs17432826
|
0.01751
|
NM_015512.5(DNAH1):c.7569C>T (p.Ser2523=)
|
rs73072968
|
0.01641
|
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln)
|
rs45569534
|
0.01626
|
NM_000089.4(COL1A2):c.70+719_70+720del
|
rs201691876
|
0.01601
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_001377.3(DYNC2H1):c.10327-53A>G
|
rs116174151
|
0.01569
|
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln)
|
rs112197217
|
0.01566
|
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=)
|
rs3027242
|
0.01548
|
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His)
|
rs10406745
|
0.01547
|
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=)
|
rs35807245
|
0.01536
|
NM_000642.3(AGL):c.82+1565T>G
|
rs145049634
|
0.01521
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=)
|
rs56316238
|
0.01492
|
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe)
|
rs9959296
|
0.01461
|
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=)
|
rs2229484
|
0.01460
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile)
|
rs62642518
|
0.01448
|
NM_000447.3(PSEN2):c.441C>T (p.Ser147=)
|
rs114334281
|
0.01441
|
NM_001374353.1(GLI2):c.963C>G (p.Pro321=)
|
rs149894186
|
0.01440
|
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala)
|
rs62620189
|
0.01383
|
NM_001142864.4(PIEZO1):c.1297-14T>C
|
rs11860864
|
0.01373
|
NM_006182.4(DDR2):c.1323G>A (p.Met441Ile)
|
rs34722354
|
0.01358
|
NM_000342.4(SLC4A1):c.16-14G>A
|
rs145502796
|
0.01351
|
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=)
|
rs5020
|
0.01332
|
NM_001114753.3(ENG):c.524-30G>A
|
rs41409546
|
0.01314
|
NM_032228.6(FAR1):c.12C>T (p.Ile4=)
|
rs117395380
|
0.01310
|
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=)
|
rs112488313
|
0.01303
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_002296.4(LBR):c.843A>G (p.Val281=)
|
rs61749339
|
0.01280
|
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)
|
rs11670799
|
0.01273
|
NM_000141.5(FGFR2):c.110-54C>T
|
rs3135732
|
0.01267
|
NM_005228.5(EGFR):c.1881-721G>A
|
rs17336988
|
0.01263
|
NM_005529.7(HSPG2):c.5998-7A>G
|
rs148336692
|
0.01243
|
NM_000548.5(TSC2):c.848+276C>G
|
rs60154230
|
0.01237
|
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=)
|
rs35793356
|
0.01231
|
NM_014251.3(SLC25A13):c.615+36T>C
|
rs56773234
|
0.01220
|
NM_000346.4(SOX9):c.-169G>A
|
rs115615437
|
0.01212
|
NM_005529.7(HSPG2):c.2558+17G>T
|
rs74060201
|
0.01206
|
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)
|
rs113345685
|
0.01206
|
NM_005529.7(HSPG2):c.5997+5G>C
|
rs59720663
|
0.01179
|
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=)
|
rs61732852
|
0.01154
|
NM_000071.3(CBS):c.829-91G>A
|
rs150181241
|
0.01153
|
NM_001042492.3(NF1):c.3974+38T>G
|
rs9894862
|
0.01144
|
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=)
|
rs115493456
|
0.01140
|
NM_000478.6(ALPL):c.1542G>T (p.Ala514=)
|
rs3200256
|
0.01113
|
NM_006182.4(DDR2):c.83-4C>T
|
rs76156815
|
0.01091
|
NM_000321.3(RB1):c.380+12T>C
|
rs3092881
|
0.01087
|
NM_020937.4(FANCM):c.624A>G (p.Ile208Met)
|
rs45547534
|
0.01077
|
NM_000352.6(ABCC8):c.4119+18A>G
|
rs75967811
|
0.01067
|
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly)
|
rs6054614
|
0.01033
|
NM_000193.4(SHH):c.301-131C>T
|
rs9333618
|
0.01029
|
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=)
|
rs139297659
|
0.01008
|
NM_001244008.2(KIF1A):c.363+16C>T
|
rs7594569
|
0.01003
|
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=)
|
rs5024
|
0.01001
|
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=)
|
rs77718962
|
0.00998
|
NM_014208.3(DSPP):c.3561T>C (p.Ser1187=)
|
rs369987019
|
0.00994
|
NM_147127.5(EVC2):c.3361-89C>A
|
rs116392680
|
0.00965
|
NM_001142864.4(PIEZO1):c.7152C>T (p.Gly2384=)
|
rs78114078
|
0.00953
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile)
|
rs12941376
|
0.00945
|
NM_005529.7(HSPG2):c.831C>T (p.Pro277=)
|
rs41310388
|
0.00944
|
NM_033100.4(CDHR1):c.240C>T (p.Val80=)
|
rs11593005
|
0.00943
|
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu)
|
rs3212366
|
0.00938
|
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=)
|
rs35653697
|
0.00937
|
NM_000546.6(TP53):c.1100+30A>T
|
rs17880847
|
0.00929
|
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=)
|
rs112435835
|
0.00928
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
NM_006182.4(DDR2):c.699C>T (p.Thr233=)
|
rs56351141
|
0.00925
|
NM_000142.5(FGFR3):c.109+26G>A
|
rs17884282
|
0.00910
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_004239.4(TRIP11):c.5160+59A>G
|
rs117502191
|
0.00901
|
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile)
|
rs115616224
|
0.00899
|
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=)
|
rs2229477
|
0.00898
|
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=)
|
rs145101074
|
0.00897
|
NM_194248.3(OTOF):c.710+10C>T
|
rs55639868
|
0.00890
|
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=)
|
rs11555434
|
0.00876
|
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=)
|
rs115087461
|
0.00870
|
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)
|
rs55980657
|
0.00869
|
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser)
|
rs11498198
|
0.00864
|
NM_005228.5(EGFR):c.1509C>T (p.Gly503=)
|
rs17336800
|
0.00859
|
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)
|
rs34799090
|
0.00854
|
NM_000478.6(ALPL):c.1119C>T (p.Thr373=)
|
rs112335417
|
0.00852
|
NM_005228.5(EGFR):c.2047C>T (p.Leu683=)
|
rs55669340
|
0.00851
|
NM_001042492.3(NF1):c.4835+36T>C
|
rs16972128
|
0.00844
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00841
|
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=)
|
rs146141457
|
0.00837
|
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)
|
rs77289466
|
0.00827
|
NM_000435.3(NOTCH3):c.2566+24G>T
|
rs151276393
|
0.00824
|
NM_003073.5(SMARCB1):c.362+7C>T
|
rs34746244
|
0.00815
|
NM_018979.4(WNK1):c.5991G>A (p.Glu1997=)
|
rs61736907
|
0.00815
|
NM_003072.5(SMARCA4):c.4768+15G>C
|
rs113131294
|
0.00813
|
NM_015978.3(TNNI3K):c.2057T>C (p.Ile686Thr)
|
rs3737564
|
0.00806
|
NM_006182.4(DDR2):c.1505-19G>A
|
rs143729297
|
0.00789
|
NM_000257.4(MYH7):c.4520-25C>T
|
rs45503601
|
0.00787
|
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp)
|
rs114851469
|
0.00786
|
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)
|
rs78926093
|
0.00784
|
NM_001142864.4(PIEZO1):c.6219C>T (p.Tyr2073=)
|
rs61745850
|
0.00779
|
NM_000435.3(NOTCH3):c.197+24C>G
|
rs188132716
|
0.00778
|
NM_002296.4(LBR):c.90C>T (p.His30=)
|
rs2230416
|
0.00758
|
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met)
|
rs139051768
|
0.00749
|
NM_018979.4(WNK1):c.684C>T (p.Gly228=)
|
rs72647374
|
0.00748
|
NM_000316.3(PTH1R):c.1395+15G>A
|
rs151077141
|
0.00747
|
NM_000435.3(NOTCH3):c.1952-23G>A
|
rs147014533
|
0.00747
|
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp)
|
rs28718831
|
0.00730
|
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=)
|
rs115303408
|
0.00727
|
NM_000260.4(MYO7A):c.133-14C>T
|
rs116228809
|
0.00719
|
NM_006506.5(RASA2):c.2226-5C>T
|
rs112582979
|
0.00714
|
NM_006182.4(DDR2):c.2481G>T (p.Leu827=)
|
rs35077871
|
0.00708
|
NM_022356.4(P3H1):c.940+90A>G
|
rs114545255
|
0.00700
|
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr)
|
rs2501264
|
0.00699
|
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn)
|
rs116114483
|
0.00681
|
NM_001024630.4(RUNX2):c.1087+17T>C
|
rs148013252
|
0.00680
|
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val)
|
rs62642505
|
0.00677
|
NM_005228.5(EGFR):c.2963A>C (p.His988Pro)
|
rs17290699
|
0.00672
|
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=)
|
rs2229485
|
0.00669
|
NM_014208.3(DSPP):c.3204T>C (p.Asp1068=)
|
rs370264407
|
0.00665
|
NM_005529.7(HSPG2):c.3967C>G (p.Leu1323Val)
|
rs10917058
|
0.00662
|
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)
|
rs61749367
|
0.00656
|
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=)
|
rs144469613
|
0.00650
|
NM_001458.5(FLNC):c.352+10G>A
|
rs79489893
|
0.00639
|
NM_015046.7(SETX):c.7905C>T (p.Ala2635=)
|
rs112201716
|
0.00633
|
NM_001081.4(CUBN):c.5080+17T>C
|
rs79034718
|
0.00630
|
NM_000447.3(PSEN2):c.756G>C (p.Ala252=)
|
rs147702142
|
0.00621
|
NM_001081.4(CUBN):c.963C>T (p.Pro321=)
|
rs150309054
|
0.00617
|
NM_000207.3(INS):c.188-16C>T
|
rs5507
|
0.00616
|
NM_032444.4(SLX4):c.90C>T (p.Ser30=)
|
rs118089506
|
0.00612
|
NM_005422.4(TECTA):c.5384-19G>A
|
rs7111480
|
0.00609
|
NM_000162.5(GCK):c.46-5594A>G
|
rs75119141
|
0.00607
|
NM_001303256.3(MORC2):c.234T>G (p.Ala78=)
|
rs140792905
|
0.00599
|
NM_000492.4(CFTR):c.164+28A>G
|
rs34010645
|
0.00589
|
NM_003073.5(SMARCB1):c.500+65G>A
|
rs34545858
|
0.00586
|
NM_177438.3(DICER1):c.5095+13C>T
|
rs116247322
|
0.00577
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_005529.7(HSPG2):c.11671+15C>T
|
rs7515291
|
0.00569
|
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=)
|
rs73768883
|
0.00567
|
NM_001142864.4(PIEZO1):c.2139C>T (p.His713=)
|
rs36067616
|
0.00564
|
NM_005422.4(TECTA):c.790+12C>T
|
rs138644808
|
0.00563
|
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=)
|
rs55740606
|
0.00560
|
NM_000243.3(MEFV):c.1587+33C>G
|
rs146820856
|
0.00556
|
NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=)
|
rs138064042
|
0.00549
|
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)
|
rs41311573
|
0.00548
|
NM_003072.5(SMARCA4):c.222+14T>C
|
rs112825147
|
0.00548
|
NM_003072.5(SMARCA4):c.1419+7T>C
|
rs112977340
|
0.00546
|
NM_000158.4(GBE1):c.143+11A>C
|
rs145918282
|
0.00545
|
NM_001377229.1(DISP1):c.1950A>G (p.Thr650=)
|
rs73130656
|
0.00538
|
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)
|
rs6828134
|
0.00535
|
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser)
|
rs117035284
|
0.00531
|
NM_000942.5(PPIB):c.344-61C>T
|
rs2241995
|
0.00522
|
NM_020631.6(PLEKHG5):c.-88+6328C>T
|
rs147378306
|
0.00522
|
NM_006767.4(LZTR1):c.201-8C>T
|
rs183476594
|
0.00520
|
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu)
|
rs74431427
|
0.00513
|
NM_000038.6(APC):c.532-32T>C
|
rs112108777
|
0.00505
|
NM_002454.3(MTRR):c.288C>T (p.Leu96=)
|
rs35587995
|
0.00500
|
NM_001127511.3(APC):c.-181C>T
|
rs115658307
|
0.00491
|
NM_002691.4(POLD1):c.1275C>T (p.Ala425=)
|
rs3219392
|
0.00486
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_001374353.1(GLI2):c.720C>T (p.Asp240=)
|
rs142793481
|
0.00483
|
NR_001566.1(TERC):n.228G>A
|
rs141686314
|
0.00478
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=)
|
rs142610625
|
0.00467
|
NM_000316.3(PTH1R):c.216G>A (p.Ala72=)
|
rs116789130
|
0.00466
|
NM_015340.4(LARS2):c.765G>A (p.Ala255=)
|
rs116272561
|
0.00466
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_006182.4(DDR2):c.408T>C (p.His136=)
|
rs2271305
|
0.00463
|
NM_147127.5(EVC2):c.675A>G (p.Gly225=)
|
rs74930168
|
0.00463
|
NM_006231.4(POLE):c.1359+18C>T
|
rs5744775
|
0.00455
|
NM_003001.5(SDHC):c.354T>C (p.Phe118=)
|
rs61733156
|
0.00454
|
NM_001003800.2(BICD2):c.2258+15G>C
|
rs140501870
|
0.00450
|
NM_000059.4(BRCA2):c.9257-113T>G
|
rs191553604
|
0.00449
|
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val)
|
rs55645295
|
0.00445
|
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)
|
rs73481453
|
0.00444
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=)
|
rs41279971
|
0.00436
|
NM_004990.4(MARS1):c.1753+7A>G
|
rs117914586
|
0.00435
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
NM_006506.5(RASA2):c.26C>T (p.Ala9Val)
|
rs200191034
|
0.00432
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_147127.5(EVC2):c.307T>C (p.Leu103=)
|
rs140877783
|
0.00416
|
NM_000088.4(COL1A1):c.2127+60T>C
|
rs112502723
|
0.00414
|
NM_000038.6(APC):c.933+30A>G
|
rs145211300
|
0.00412
|
NM_014845.6(FIG4):c.*14C>T
|
rs114136062
|
0.00408
|
NM_000089.4(COL1A2):c.2349+16G>C
|
rs112603291
|
0.00405
|
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=)
|
rs116164892
|
0.00404
|
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=)
|
rs140861713
|
0.00395
|
NM_003599.4(SUPT3H):c.101+36483_101+36485del
|
rs139788537
|
0.00393
|
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)
|
rs111966833
|
0.00389
|
NM_003072.5(SMARCA4):c.2001+8T>G
|
rs112549813
|
0.00384
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_000088.4(COL1A1):c.4005+44G>A
|
rs145008436
|
0.00381
|
NM_003072.5(SMARCA4):c.222+18C>T
|
rs180832203
|
0.00381
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_000642.3(AGL):c.2883A>G (p.Arg961=)
|
rs113625417
|
0.00375
|
NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=)
|
rs77713482
|
0.00374
|
NM_005529.7(HSPG2):c.4176T>C (p.His1392=)
|
rs62642526
|
0.00369
|
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn)
|
rs111033494
|
0.00368
|
NM_000435.3(NOTCH3):c.3719-11C>T
|
rs78907190
|
0.00367
|
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=)
|
rs141937843
|
0.00363
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_000112.4(SLC26A2):c.*83T>G
|
rs143847430
|
0.00356
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_001042492.3(NF1):c.2252-31A>T
|
rs141082540
|
0.00355
|
NM_015512.5(DNAH1):c.3090G>A (p.Ala1030=)
|
rs140275399
|
0.00355
|
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys)
|
rs145436538
|
0.00355
|
NM_001005361.3(DNM2):c.1545+14C>G
|
rs114713494
|
0.00350
|
NM_021939.4(FKBP10):c.504C>T (p.Pro168=)
|
rs113640022
|
0.00350
|
NM_022124.6(CDH23):c.2954-14G>A
|
rs191534381
|
0.00347
|
NM_006231.4(POLE):c.2468+10C>T
|
rs5744823
|
0.00342
|
NM_147127.5(EVC2):c.1224C>T (p.Ala408=)
|
rs114629810
|
0.00334
|
NM_001457.4(FLNB):c.3240G>A (p.Pro1080=)
|
rs77989135
|
0.00333
|
NM_000245.4(MET):c.-14-4G>A
|
rs144126521
|
0.00331
|
NM_021815.5(SLC5A7):c.826C>T (p.Leu276=)
|
rs78245030
|
0.00330
|
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)
|
rs77351928
|
0.00330
|
NM_206933.4(USH2A):c.15297+3A>G
|
rs57754754
|
0.00327
|
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)
|
rs141671082
|
0.00327
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=)
|
rs35106977
|
0.00325
|
NM_006329.4(FBLN5):c.620-8T>C
|
rs147699855
|
0.00324
|
NM_000254.3(MTR):c.1076-8C>T
|
rs115186224
|
0.00321
|
NM_001457.4(FLNB):c.4222+19A>C
|
rs146229370
|
0.00319
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=)
|
rs141971833
|
0.00316
|
NM_015512.5(DNAH1):c.872-15C>T
|
rs143657729
|
0.00315
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_015512.5(DNAH1):c.11788-14C>T
|
rs141567808
|
0.00310
|
NM_015512.5(DNAH1):c.12375A>T (p.Thr4125=)
|
rs61734637
|
0.00310
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_015512.5(DNAH1):c.10422T>C (p.Leu3474=)
|
rs148913561
|
0.00302
|
NM_015512.5(DNAH1):c.2744A>G (p.Asn915Ser)
|
rs61734643
|
0.00302
|
NM_015512.5(DNAH1):c.4263C>T (p.Pro1421=)
|
rs61739897
|
0.00300
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)
|
rs137902779
|
0.00293
|
NM_002473.6(MYH9):c.5181G>A (p.Leu1727=)
|
rs115170675
|
0.00292
|
NM_015512.5(DNAH1):c.1286+16G>A
|
rs190176840
|
0.00289
|
NM_181882.3(PRX):c.3846G>A (p.Ser1282=)
|
rs143289108
|
0.00288
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_020779.4(WDR35):c.2262C>T (p.Asp754=)
|
rs147206032
|
0.00285
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
NM_006363.6(SEC23B):c.993+19G>A
|
rs144225458
|
0.00281
|
NM_001303256.3(MORC2):c.226+18T>C
|
rs114021247
|
0.00279
|
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly)
|
rs146525982
|
0.00278
|
NM_004100.5(EYA4):c.804+16G>T
|
rs13362743
|
0.00276
|
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr)
|
rs147883884
|
0.00275
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
NM_006158.5(NEFL):c.584C>T (p.Ala195Val)
|
rs185200977
|
0.00274
|
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=)
|
rs56118173
|
0.00274
|
NM_078470.6(COX15):c.1026C>T (p.Phe342=)
|
rs147724430
|
0.00264
|
NM_021625.5(TRPV4):c.712+10C>T
|
rs115657305
|
0.00260
|
NM_001003800.2(BICD2):c.454-19T>C
|
rs114997314
|
0.00256
|
NM_001130823.3(DNMT1):c.4773+18C>T
|
rs183300496
|
0.00255
|
NM_021815.5(SLC5A7):c.713A>G (p.Tyr238Cys)
|
rs142776152
|
0.00253
|
NM_001458.5(FLNC):c.4737+15A>G
|
rs182734223
|
0.00252
|
NM_021939.4(FKBP10):c.1734C>T (p.Val578=)
|
rs115239900
|
0.00250
|
NM_001457.4(FLNB):c.4222+8A>G
|
rs190025781
|
0.00248
|
NM_000384.3(APOB):c.1785C>G (p.Ser595=)
|
rs139864087
|
0.00247
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=)
|
rs72866991
|
0.00243
|
NM_000089.4(COL1A2):c.595-20C>T
|
rs192022673
|
0.00242
|
NM_000089.4(COL1A2):c.96+10C>T
|
rs185341110
|
0.00242
|
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=)
|
rs113955216
|
0.00241
|
NM_004990.4(MARS1):c.2204+11G>A
|
rs202080192
|
0.00239
|
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)
|
rs17886566
|
0.00238
|
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=)
|
rs143710815
|
0.00238
|
NM_001378183.1(PIEZO2):c.7326C>T (p.Tyr2442=)
|
rs72970080
|
0.00237
|
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)
|
rs183021839
|
0.00235
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
NM_001457.4(FLNB):c.4377T>C (p.Val1459=)
|
rs149921907
|
0.00232
|
NM_000554.6(CRX):c.196G>A (p.Val66Ile)
|
rs61748438
|
0.00231
|
NM_001457.4(FLNB):c.274A>G (p.Ile92Val)
|
rs62622011
|
0.00229
|
NM_053025.4(MYLK):c.24C>G (p.Ala8=)
|
rs78118111
|
0.00229
|
NM_021625.5(TRPV4):c.1824+4C>T
|
rs147259744
|
0.00225
|
NM_004990.4(MARS1):c.280-14C>T
|
rs183195960
|
0.00223
|
NM_000088.4(COL1A1):c.999C>T (p.Pro333=)
|
rs62637627
|
0.00222
|
NM_004984.4(KIF5A):c.1293+9G>A
|
rs201749114
|
0.00222
|
NM_001303256.3(MORC2):c.2841+20C>T
|
rs192723178
|
0.00218
|
NM_001457.4(FLNB):c.4362G>A (p.Pro1454=)
|
rs150844992
|
0.00217
|
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)
|
rs200161705
|
0.00216
|
NM_001366110.1(PAX4):c.456C>T (p.Val152=)
|
rs61749955
|
0.00216
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=)
|
rs142281464
|
0.00215
|
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser)
|
rs574746149
|
0.00214
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)
|
rs113058506
|
0.00212
|
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)
|
rs180787556
|
0.00212
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_002890.3(RASA1):c.1371G>A (p.Lys457=)
|
rs140707293
|
0.00208
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
NM_000256.3(MYBPC3):c.2309-27G>A
|
rs150212048
|
0.00204
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)
|
rs144780536
|
0.00202
|
NM_001308093.3(GATA4):c.99G>T (p.Ala33=)
|
rs56166237
|
0.00199
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_053025.4(MYLK):c.4620-6C>T
|
rs113607507
|
0.00195
|
NM_000350.3(ABCA4):c.5196+1159G>A
|
rs80110715
|
0.00191
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_024426.6(WT1):c.123G>C (p.Pro41=)
|
rs555140661
|
0.00188
|
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=)
|
rs140009885
|
0.00187
|
NM_005188.4(CBL):c.870-19del
|
rs548130600
|
0.00185
|
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=)
|
rs35789242
|
0.00183
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
NM_001370259.2(MEN1):c.597C>T (p.His199=)
|
rs150512958
|
0.00181
|
NM_177438.3(DICER1):c.1825G>T (p.Asp609Tyr)
|
rs114947750
|
0.00180
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_024753.5(TTC21B):c.262+16G>A
|
rs192525886
|
0.00179
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_000222.3(KIT):c.2805T>A (p.Ile935=)
|
rs72549296
|
0.00176
|
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn)
|
rs60970824
|
0.00175
|
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=)
|
rs45562437
|
0.00174
|
NM_020975.6(RET):c.468C>T (p.Ala156=)
|
rs141290380
|
0.00173
|
NM_001540.5(HSPB1):c.573T>C (p.Leu191=)
|
rs34771861
|
0.00170
|
NM_006182.4(DDR2):c.1099+12A>C
|
rs144350332
|
0.00170
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
NM_000384.3(APOB):c.3279C>G (p.Thr1093=)
|
rs72653075
|
0.00163
|
NM_031475.3(ESPN):c.1248G>A (p.Pro416=)
|
rs139332523
|
0.00163
|
NM_080680.3(COL11A2):c.390G>C (p.Arg130=)
|
rs149638770
|
0.00163
|
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg)
|
rs140588099
|
0.00156
|
NM_000540.3(RYR1):c.2622G>A (p.Ala874=)
|
rs149381996
|
0.00155
|
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)
|
rs3219496
|
0.00154
|
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)
|
rs115992445
|
0.00153
|
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)
|
rs148480919
|
0.00153
|
NM_024577.4(SH3TC2):c.1177+10G>A
|
rs139257109
|
0.00153
|
NM_053025.4(MYLK):c.4620-18G>A
|
rs41305835
|
0.00153
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_001457.4(FLNB):c.6773-13C>A
|
rs200653965
|
0.00149
|
NM_147127.5(EVC2):c.2394G>A (p.Arg798=)
|
rs147173201
|
0.00149
|
NM_147127.5(EVC2):c.2395G>C (p.Asp799His)
|
rs143491078
|
0.00149
|
NM_001308093.3(GATA4):c.735C>T (p.Tyr245=)
|
rs146696080
|
0.00148
|
NM_021625.5(TRPV4):c.1585-18C>T
|
rs201974634
|
0.00148
|
NM_000552.5(VWF):c.3789G>A (p.Ser1263=)
|
rs199831474
|
0.00146
|
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)
|
rs72468667
|
0.00146
|
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=)
|
rs115742584
|
0.00145
|
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)
|
rs141575580
|
0.00142
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
NM_000478.6(ALPL):c.859T>C (p.Leu287=)
|
rs141742288
|
0.00141
|
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=)
|
rs200195310
|
0.00141
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_001148.6(ANK2):c.7902G>A (p.Val2634=)
|
rs150878494
|
0.00138
|
NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=)
|
rs188634763
|
0.00137
|
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
NM_004999.4(MYO6):c.2517T>C (p.Gly839=)
|
rs112597191
|
0.00135
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn)
|
rs111530469
|
0.00134
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_000346.4(SOX9):c.858C>A (p.Ile286=)
|
rs149355998
|
0.00125
|
NM_001042492.3(NF1):c.1846-12A>T
|
rs188510882
|
0.00124
|
NM_001148.6(ANK2):c.7059A>G (p.Gln2353=)
|
rs145782226
|
0.00124
|
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)
|
rs72468692
|
0.00124
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
NM_003239.5(TGFB3):c.744C>A (p.Ile248=)
|
rs45477900
|
0.00123
|
NM_174936.4(PCSK9):c.525C>T (p.Asp175=)
|
rs148612296
|
0.00117
|
NM_002471.4(MYH6):c.1122G>A (p.Ala374=)
|
rs148091079
|
0.00116
|
NM_023110.3(FGFR1):c.449-9C>G
|
rs17182303
|
0.00115
|
NM_001005361.3(DNM2):c.1782-5C>T
|
rs200103145
|
0.00113
|
NM_001370259.2(MEN1):c.30G>T (p.Leu10=)
|
rs371192390
|
0.00111
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)
|
rs188357478
|
0.00108
|
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly)
|
rs200502817
|
0.00104
|
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=)
|
rs187182557
|
0.00103
|
NM_004984.4(KIF5A):c.714+8G>A
|
rs199624091
|
0.00101
|
NM_001854.4(COL11A1):c.3925-16C>T
|
rs201491791
|
0.00099
|
NM_177438.3(DICER1):c.4014G>A (p.Ala1338=)
|
rs143454689
|
0.00099
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val)
|
rs146701946
|
0.00098
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00097
|
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn)
|
rs184201084
|
0.00096
|
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=)
|
rs146167897
|
0.00096
|
NM_002471.4(MYH6):c.3303G>A (p.Val1101=)
|
rs143825034
|
0.00095
|
NM_022489.4(INF2):c.507+7G>A
|
rs201568246
|
0.00095
|
NM_000193.4(SHH):c.876G>A (p.Gly292=)
|
rs112055654
|
0.00093
|
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=)
|
rs114556043
|
0.00093
|
NM_006070.6(TFG):c.258G>T (p.Leu86=)
|
rs150620449
|
0.00093
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_014000.3(VCL):c.1572C>T (p.Ala524=)
|
rs138566234
|
0.00086
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)
|
rs147955381
|
0.00083
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000545.8(HNF1A):c.1107+9C>G
|
rs17847497
|
0.00081
|
NM_001605.3(AARS1):c.1632C>T (p.Asp544=)
|
rs149425243
|
0.00081
|
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)
|
rs56174879
|
0.00079
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=)
|
rs140364657
|
0.00076
|
NM_018979.4(WNK1):c.4983T>C (p.Ser1661=)
|
rs149852592
|
0.00072
|
NM_153676.4(USH1C):c.1740T>C (p.Pro580=)
|
rs200085788
|
0.00070
|
NM_177438.3(DICER1):c.924C>T (p.Ala308=)
|
rs142397473
|
0.00070
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_001103.4(ACTN2):c.877-6G>A
|
rs397516585
|
0.00068
|
NM_001375808.2(LPIN2):c.1815G>A (p.Ser605=)
|
rs143702044
|
0.00066
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)
|
rs111033333
|
0.00063
|
NM_000033.4(ABCD1):c.258C>T (p.Val86=)
|
rs200660869
|
0.00061
|
NM_002473.6(MYH9):c.4344+10C>T
|
rs200977419
|
0.00061
|
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)
|
rs148504065
|
0.00061
|
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=)
|
rs17881903
|
0.00059
|
NM_014874.4(MFN2):c.1495+9C>T
|
rs375494746
|
0.00059
|
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=)
|
rs760611400
|
0.00057
|
NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=)
|
rs138739292
|
0.00054
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_002691.4(POLD1):c.1665C>T (p.Val555=)
|
rs150238541
|
0.00053
|
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=)
|
rs139564431
|
0.00053
|
NM_000142.5(FGFR3):c.2088C>T (p.Pro696=)
|
rs142884145
|
0.00052
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)
|
rs201804323
|
0.00052
|
NM_000548.5(TSC2):c.975+13C>T
|
rs200564575
|
0.00051
|
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=)
|
rs201575114
|
0.00051
|
NM_003239.5(TGFB3):c.517-16T>C
|
rs3917176
|
0.00050
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
NM_033380.3(COL4A5):c.1588-13T>G
|
rs201708502
|
0.00047
|
NM_000162.5(GCK):c.46-5598A>T
|
rs13306393
|
0.00046
|
NM_001114753.3(ENG):c.1455G>A (p.Glu485=)
|
rs150456852
|
0.00046
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_024334.3(TMEM43):c.279C>T (p.Gly93=)
|
rs149883381
|
0.00044
|
NM_014365.3(HSPB8):c.432-16C>T
|
rs183447670
|
0.00043
|
NM_175914.5(HNF4A):c.138G>A (p.Thr46=)
|
rs145845882
|
0.00043
|
NM_001395413.1(POR):c.1227C>T (p.Ser409=)
|
rs41301424
|
0.00041
|
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=)
|
rs367600795
|
0.00039
|
NM_003242.6(TGFBR2):c.94+16202A>G
|
rs375610471
|
0.00039
|
NM_020975.6(RET):c.2037C>T (p.Pro679=)
|
rs55862116
|
0.00039
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_002296.4(LBR):c.927C>T (p.Ile309=)
|
rs143164834
|
0.00037
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00034
|
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=)
|
rs143161930
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=)
|
rs138280089
|
0.00031
|
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=)
|
rs375503410
|
0.00030
|
NM_000088.4(COL1A1):c.1983+9G>C
|
rs201091992
|
0.00029
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00029
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=)
|
rs200847105
|
0.00027
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=)
|
rs41316673
|
0.00026
|
NM_000297.4(PKD2):c.595+15C>T
|
rs559555727
|
0.00026
|
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=)
|
rs115452236
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_000089.4(COL1A2):c.945C>T (p.Pro315=)
|
rs147058179
|
0.00024
|
NM_003680.4(YARS1):c.60G>A (p.Glu20=)
|
rs143712443
|
0.00024
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_020975.6(RET):c.2088G>A (p.Ser696=)
|
rs150329150
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=)
|
rs200283756
|
0.00023
|
NM_003239.5(TGFB3):c.647-12C>G
|
rs61762490
|
0.00023
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val)
|
rs372138746
|
0.00020
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
0.00020
|
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=)
|
rs201723447
|
0.00019
|
NM_001457.4(FLNB):c.7198+20C>G
|
rs201580886
|
0.00019
|
NM_002691.4(POLD1):c.2955G>T (p.Arg985=)
|
rs770495723
|
0.00019
|
NM_003072.5(SMARCA4):c.4170+16G>A
|
rs191812860
|
0.00019
|
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=)
|
rs143516811
|
0.00018
|
NM_001457.4(FLNB):c.4390+8T>A
|
rs377095569
|
0.00018
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_144997.7(FLCN):c.1278C>T (p.Ile426=)
|
rs41459448
|
0.00016
|
NM_000033.4(ABCD1):c.901-5C>T
|
rs782603062
|
0.00015
|
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)
|
rs371787039
|
0.00014
|
NM_001844.5(COL2A1):c.246C>T (p.Phe82=)
|
rs142161948
|
0.00014
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=)
|
rs773886758
|
0.00013
|
NM_003239.5(TGFB3):c.88T>C (p.Leu30=)
|
rs3917145
|
0.00013
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)
|
rs118203751
|
0.00010
|
NM_001042492.3(NF1):c.2252-34T>C
|
rs200937398
|
0.00010
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys)
|
rs371413736
|
0.00009
|
NM_000093.5(COL5A1):c.1495-11C>A
|
rs199501759
|
0.00008
|
NM_000179.3(MSH6):c.2314C>A (p.Arg772=)
|
rs63750138
|
0.00007
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=)
|
rs180921875
|
0.00006
|
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)
|
rs756527780
|
0.00006
|
NM_005188.4(CBL):c.2252-8T>C
|
rs555179188
|
0.00006
|
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=)
|
rs559356437
|
0.00005
|
NM_001148.6(ANK2):c.813T>C (p.His271=)
|
rs774848857
|
0.00005
|
NM_001376.5(DYNC1H1):c.3961-14A>G
|
rs558548356
|
0.00004
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00004
|
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)
|
rs104895077
|
0.00003
|
NM_001042492.3(NF1):c.*4T>C
|
rs201044568
|
0.00003
|
NM_002474.3(MYH11):c.444C>T (p.His148=)
|
rs569925780
|
0.00003
|
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=)
|
rs367615733
|
0.00003
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=)
|
rs368690455
|
0.00002
|
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=)
|
rs587780662
|
0.00001
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
NM_000138.5(FBN1):c.75G>A (p.Ala25=)
|
rs543230518
|
0.00001
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=)
|
rs886038504
|
0.00001
|
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg)
|
rs773782786
|
0.00001
|
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=)
|
rs141619541
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
NM_000095.3(COMP):c.1668+13T>A
|
rs74432818
|
|
NM_000095.3(COMP):c.218-14C>T
|
rs150008764
|
|
NM_000180.4(GUCY2D):c.3043+11C>T
|
rs116870332
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
NM_000286.3(PEX12):c.681-3_681-2del
|
rs138568975
|
|
NM_000314.8(PTEN):c.802-3del
|
rs34003473
|
|
NM_000492.4(CFTR):c.744-33GATT[8]
|
rs1805171
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=)
|
rs12330369
|
|
NM_001018115.3(FANCD2):c.1413+3A>G
|
rs62245508
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.61-4dup
|
rs551568608
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
NM_001042492.3(NF1):c.6922-14_6922-13del
|
rs146785663
|
|
NM_001042492.3(NF1):c.7190-33TTGT[3]
|
rs149197458
|
|
NM_001042492.3(NF1):c.730+32del
|
rs71142032
|
|
NM_001042492.3(NF1):c.7457+21A>G
|
rs17881641
|
|
NM_001042492.3(NF1):c.7971-8del
|
rs564545012
|
|
NM_001048174.2(MUTYH):c.606+21C>A
|
rs148552450
|
|
NM_001127511.3(APC):c.-126dup
|
rs565045828
|
|
NM_001127898.4(CLCN5):c.819= (p.Ser273=)
|
rs34464675
|
|
NM_001142864.4(PIEZO1):c.5289C>T (p.Tyr1763=)
|
rs72811487
|
|
NM_001145809.2(MYH14):c.192G>T (p.Gly64=)
|
rs181055215
|
|
NM_001148.6(ANK2):c.11032+20TG[17]
|
rs34201791
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[5]
|
rs71393436
|
|
NM_001267550.2(TTN):c.38708-4T>C
|
rs200819643
|
|
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser)
|
rs150223722
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_002296.4(LBR):c.893-5del
|
rs78306811
|
|
NM_002471.4(MYH6):c.1131C>T (p.Asp377=)
|
rs61742472
|
|
NM_002471.4(MYH6):c.3979-14C>A
|
rs372226248
|
|
NM_002890.3(RASA1):c.2691-17del
|
rs368117332
|
|
NM_003000.3(SDHB):c.424-37TTC[10]
|
rs34261028
|
|
NM_003072.5(SMARCA4):c.4170+17C>T
|
rs145829956
|
|
NM_004082.5(DCTN1):c.627G>T (p.Pro209=)
|
rs147673066
|
|
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=)
|
rs62642501
|
|
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)
|
rs147114700
|
|
NM_006231.4(POLE):c.3275+12_3275+37del
|
rs1057517627
|
|
NM_006506.5(RASA2):c.657G>A (p.Pro219=)
|
rs34238772
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
NM_012472.6(DNAAF11):c.974+18G>A
|
rs185791758
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015340.4(LARS2):c.945G>A (p.Ser315=)
|
rs145135580
|
|
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del)
|
rs878855029
|
|
NM_017780.4(CHD7):c.2614-14del
|
rs748282026
|
|
NM_020297.4(ABCC9):c.817-18del
|
rs199947733
|
|
NM_020297.4(ABCC9):c.817-7del
|
rs193922684
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro)
|
rs76623454
|
|
NM_021939.4(FKBP10):c.1256+17dup
|
rs55720039
|
|
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=)
|
rs115504901
|
|
NM_031475.3(ESPN):c.702C>G (p.Ser234=)
|
rs367944375
|
|
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=)
|
rs3746806
|
|
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
|
rs138172035
|
|
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu)
|
rs368325180
|
|
NM_144997.7(FLCN):c.75G>A (p.Leu25=)
|
rs200350612
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=)
|
rs3747334
|
|
NM_213599.3(ANO5):c.295-8dup
|
rs778435515
|
|