NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NM_000070.3(CAPN3):c.1029+3A>G
|
rs28364442
|
0.03285
|
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)
|
rs398124605
|
0.03116
|
NM_014009.4(FOXP3):c.543C>T (p.Ser181=)
|
rs2232367
|
0.03006
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser)
|
rs79760961
|
0.01604
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu)
|
rs7023652
|
0.01515
|
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met)
|
rs35785620
|
0.01390
|
NM_000048.4(ASL):c.1164C>T (p.His388=)
|
rs75300185
|
0.01380
|
NM_020751.3(COG6):c.898C>T (p.His300Tyr)
|
rs34555836
|
0.01351
|
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu)
|
rs114326915
|
0.01242
|
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)
|
rs17113312
|
0.01232
|
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser)
|
rs56212569
|
0.01207
|
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)
|
rs145184792
|
0.01187
|
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu)
|
rs115857753
|
0.01168
|
NM_018941.4(CLN8):c.274C>T (p.His92Tyr)
|
rs34030778
|
0.01138
|
NM_001164688.2(RD3):c.584A>T (p.Asp195Val)
|
rs143207434
|
0.01101
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)
|
rs371877084
|
0.01088
|
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys)
|
rs17843865
|
0.01046
|
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)
|
rs35198096
|
0.01041
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)
|
rs35139588
|
0.01019
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)
|
rs61735835
|
0.00998
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_001136193.2(FASTKD2):c.-51A>G
|
rs116297724
|
0.00938
|
NM_004260.4(RECQL4):c.1879-15C>A
|
rs35126141
|
0.00929
|
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)
|
rs138421850
|
0.00928
|
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His)
|
rs140547835
|
0.00922
|
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)
|
rs180849348
|
0.00918
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00914
|
NM_001128227.3(GNE):c.-10G>A
|
rs73449614
|
0.00894
|
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)
|
rs61995747
|
0.00892
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_001202.6(BMP4):c.370+28G>A
|
rs72680532
|
0.00883
|
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr)
|
rs35735053
|
0.00876
|
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)
|
rs79040751
|
0.00875
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser)
|
rs61735104
|
0.00867
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)
|
rs149055334
|
0.00789
|
NM_018100.4(EFHC1):c.662G>A (p.Arg221His)
|
rs79761183
|
0.00778
|
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)
|
rs34391943
|
0.00744
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys)
|
rs72957510
|
0.00742
|
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)
|
rs111033477
|
0.00740
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)
|
rs33956783
|
0.00733
|
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)
|
rs75714509
|
0.00723
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_018965.4(TREM2):c.185G>A (p.Arg62His)
|
rs143332484
|
0.00714
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu)
|
rs117706710
|
0.00700
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)
|
rs115960224
|
0.00687
|
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)
|
rs150895887
|
0.00683
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00680
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile)
|
rs151091241
|
0.00676
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_006005.3(WFS1):c.2335G>A (p.Val779Met)
|
rs141328044
|
0.00672
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)
|
rs140029076
|
0.00658
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln)
|
rs142032474
|
0.00643
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val)
|
rs111229124
|
0.00625
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)
|
rs34737974
|
0.00618
|
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)
|
rs16020
|
0.00616
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser)
|
rs56204273
|
0.00613
|
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His)
|
rs114156788
|
0.00612
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)
|
rs72768728
|
0.00609
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)
|
rs184420466
|
0.00604
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu)
|
rs73933023
|
0.00601
|
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala)
|
rs117804715
|
0.00599
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_054012.4(ASS1):c.106-10T>G
|
rs73541957
|
0.00593
|
NM_000492.4(CFTR):c.164+28A>G
|
rs34010645
|
0.00589
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
NM_002435.3(MPI):c.982C>T (p.Arg328Trp)
|
rs117089191
|
0.00577
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
NM_014908.4(DOLK):c.1dup (p.Met1fs)
|
rs531969689
|
0.00573
|
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro)
|
rs61734466
|
0.00572
|
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)
|
rs34132016
|
0.00569
|
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)
|
rs34778324
|
0.00568
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_000515.5(GH1):c.406G>A (p.Val136Ile)
|
rs5388
|
0.00560
|
NM_000426.4(LAMA2):c.4437-5T>A
|
rs41285288
|
0.00557
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)
|
rs73113975
|
0.00540
|
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)
|
rs140916001
|
0.00537
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_003124.5(SPR):c.112G>A (p.Val38Ile)
|
rs146099322
|
0.00535
|
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro)
|
rs117070973
|
0.00528
|
NM_001365951.3(KIF1B):c.2115+6956A>G
|
rs148481786
|
0.00525
|
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys)
|
rs113455884
|
0.00524
|
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp)
|
rs114823319
|
0.00522
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp)
|
rs144471022
|
0.00516
|
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)
|
rs115913736
|
0.00515
|
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)
|
rs45589337
|
0.00513
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)
|
rs149313666
|
0.00495
|
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)
|
rs138642043
|
0.00495
|
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)
|
rs59286323
|
0.00493
|
NM_000541.5(SAG):c.301G>A (p.Ala101Thr)
|
rs141521563
|
0.00492
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser)
|
rs145178162
|
0.00490
|
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met)
|
rs34830061
|
0.00488
|
NM_001698.3(AUH):c.182C>A (p.Pro61His)
|
rs181327211
|
0.00487
|
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)
|
rs140403186
|
0.00485
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys)
|
rs61758995
|
0.00472
|
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)
|
rs146292575
|
0.00472
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868
|
0.00467
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
|
rs118066140
|
0.00457
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln)
|
rs34161789
|
0.00444
|
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys)
|
rs62224222
|
0.00437
|
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)
|
rs138628273
|
0.00437
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)
|
rs28384988
|
0.00434
|
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)
|
rs181733689
|
0.00433
|
NM_002857.4(PEX19):c.771+3A>G
|
rs141133579
|
0.00429
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser)
|
rs199760004
|
0.00417
|
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu)
|
rs35811023
|
0.00416
|
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr)
|
rs148772854
|
0.00409
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)
|
rs141340867
|
0.00398
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)
|
rs139367209
|
0.00396
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys)
|
rs41276187
|
0.00389
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)
|
rs41313282
|
0.00375
|
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)
|
rs187333111
|
0.00365
|
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00365
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)
|
rs2229860
|
0.00361
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00358
|
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)
|
rs148509395
|
0.00356
|
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995
|
0.00354
|
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg)
|
rs146329532
|
0.00352
|
NM_000048.4(ASL):c.556C>A (p.Arg186=)
|
rs111407265
|
0.00347
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)
|
rs73198165
|
0.00341
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)
|
rs139600783
|
0.00337
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)
|
rs187947581
|
0.00330
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp)
|
rs200575795
|
0.00326
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)
|
rs150814269
|
0.00324
|
NM_001048166.1(STIL):c.1055G>A (p.Arg352His)
|
rs141678367
|
0.00323
|
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg)
|
rs35488756
|
0.00320
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00314
|
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)
|
rs144486524
|
0.00310
|
NM_001848.3(COL6A1):c.1182+3G>A
|
rs62215499
|
0.00310
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)
|
rs190664764
|
0.00304
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser)
|
rs114807343
|
0.00300
|
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)
|
rs142013761
|
0.00299
|
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)
|
rs113651939
|
0.00295
|
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)
|
rs41287112
|
0.00287
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)
|
rs116445698
|
0.00278
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)
|
rs56226109
|
0.00271
|
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe)
|
rs147846832
|
0.00269
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu)
|
rs55915440
|
0.00262
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)
|
rs138723423
|
0.00259
|
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)
|
rs147223770
|
0.00258
|
NM_000168.6(GLI3):c.1357-17C>G
|
rs190600888
|
0.00256
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)
|
rs41272041
|
0.00234
|
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser)
|
rs186143284
|
0.00232
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu)
|
rs147580961
|
0.00222
|
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)
|
rs150399299
|
0.00219
|
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu)
|
rs148291843
|
0.00217
|
NM_006005.3(WFS1):c.712+16G>A
|
rs71524367
|
0.00213
|
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met)
|
rs145750007
|
0.00213
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn)
|
rs55858252
|
0.00211
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)
|
rs77080672
|
0.00204
|
NM_004006.3(DMD):c.10087-20C>T
|
rs41303187
|
0.00198
|
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile)
|
rs199895011
|
0.00195
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn)
|
rs144327167
|
0.00188
|
NM_018965.4(TREM2):c.469C>T (p.His157Tyr)
|
rs2234255
|
0.00187
|
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser)
|
rs147674680
|
0.00185
|
NM_006059.4(LAMC3):c.1630+5C>G
|
rs184221540
|
0.00178
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile)
|
rs112829587
|
0.00171
|
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)
|
rs146263125
|
0.00166
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_000036.3(AMPD1):c.334G>A (p.Val112Met)
|
rs61741025
|
0.00162
|
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)
|
rs112170602
|
0.00159
|
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)
|
rs200250181
|
0.00159
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)
|
rs143945573
|
0.00155
|
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)
|
rs139659618
|
0.00154
|
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)
|
rs146044282
|
0.00152
|
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile)
|
rs200926181
|
0.00142
|
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn)
|
rs201093148
|
0.00128
|
NM_001110556.2(FLNA):c.6023-10C>G
|
rs72616474
|
0.00127
|
NM_018714.3(COG1):c.401C>T (p.Ser134Leu)
|
rs146066919
|
0.00125
|
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)
|
rs145644275
|
0.00117
|
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile)
|
rs4870093
|
0.00106
|
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649
|
0.00102
|
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn)
|
rs139339184
|
0.00090
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly)
|
rs150246733
|
0.00081
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg)
|
rs143028540
|
0.00068
|
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)
|
rs147445499
|
0.00066
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu)
|
rs140827311
|
0.00058
|
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)
|
rs149707354
|
0.00056
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val)
|
rs118109635
|
0.00029
|
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn)
|
rs182708940
|
0.00020
|
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met)
|
rs143438888
|
0.00003
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)
|
rs12720449
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)
|
rs56173620
|
|
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp)
|
rs73404416
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2])
|
rs534091900
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)
|
rs41550117
|
|
NM_003722.5(TP63):c.192-9_192-8del
|
rs794727498
|
|
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)
|
rs41277835
|
|
NM_005045.4(RELN):c.1290-3dup
|
rs146986040
|
|
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup)
|
rs3075570
|
|
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp)
|
rs61758066
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)
|
rs143790434
|
|
NM_014491.3(FOXP2):c.618_620dupGCA
|
|
|
NM_014920.5(CILK1):c.831+5del
|
rs200780900
|
|
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val)
|
rs61758100
|
|
NM_017780.4(CHD7):c.2377-3dup
|
rs752271550
|
|
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly)
|
rs3804506
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del)
|
rs747975797
|
|
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn)
|
rs138283222
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)
|
rs41303350
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln)
|
rs201430180
|
|