NM_000828.4(GRIA3):c.-2G=
|
rs58044961
|
1.00000
|
NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser)
|
rs7249826
|
1.00000
|
NM_001845.6(COL4A1):c.1663= (p.Pro555=)
|
rs536174
|
0.99999
|
NM_080680.3(COL11A2):c.1360-7A>C
|
rs3129201
|
0.99999
|
NM_000208.4(INSR):c.5C>G (p.Ala2Gly)
|
rs7508518
|
0.99996
|
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=)
|
rs9924504
|
0.99996
|
NM_207361.6(FREM2):c.2233= (p.Pro745=)
|
rs2496423
|
0.99994
|
NM_001492.6(GDF1):c.326-14T>C
|
rs4808864
|
0.99989
|
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=)
|
rs904783
|
0.99962
|
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile)
|
rs10902758
|
0.99926
|
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro)
|
rs806052
|
0.99890
|
NM_020297.4(ABCC9):c.2199-11=
|
rs697250
|
0.99814
|
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser)
|
rs1063242
|
0.99690
|
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His)
|
rs964201
|
0.99668
|
NM_020436.5(SALL4):c.540T>C (p.Asn180=)
|
rs6013281
|
0.99661
|
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg)
|
rs1983014
|
0.99622
|
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly)
|
rs1466731
|
0.99604
|
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro)
|
rs4145333
|
0.99572
|
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)
|
rs4784677
|
0.99534
|
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)
|
rs1516446
|
0.99509
|
NM_000263.4(NAGLU):c.423T>C (p.Ser141=)
|
rs659497
|
0.99480
|
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=)
|
rs426298
|
0.99420
|
NM_001363.5(DKC1):c.369G>T (p.Thr123=)
|
rs2728532
|
0.99384
|
NM_003283.6(TNNT1):c.795= (p.Arg265=)
|
rs890868
|
0.99361
|
NM_000387.6(SLC25A20):c.536-18T>C
|
rs6414612
|
0.99352
|
NM_001368397.1(FRMPD4):c.1197+12C>G
|
rs4469660
|
0.99321
|
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr)
|
rs30832
|
0.99306
|
NM_145239.3(PRRT2):c.751T>C (p.Leu251=)
|
rs11150573
|
0.99277
|
NM_001289104.2(PRKCSH):c.850-14T>C
|
rs186375
|
0.99255
|
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn)
|
rs526433
|
0.99235
|
NM_201548.5(CERKL):c.1506C>T (p.Asp502=)
|
rs10180793
|
0.99229
|
NM_153252.5(BRWD3):c.3863A>G (p.Lys1288Arg)
|
rs3122407
|
0.99173
|
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)
|
rs2515569
|
0.99154
|
NM_001458.5(FLNC):c.4404T>C (p.Asp1468=)
|
rs2249128
|
0.99086
|
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)
|
rs1126058
|
0.99080
|
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val)
|
rs1670283
|
0.99030
|
NM_001369268.1(ACAN):c.1809T>C (p.Ala603=)
|
rs1568116
|
0.98973
|
NM_005045.4(RELN):c.8843+7G>C
|
rs2711885
|
0.98938
|
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=)
|
rs4925828
|
0.98841
|
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly)
|
rs375912738
|
0.98789
|
NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly)
|
rs4930388
|
0.98751
|
NM_000350.3(ABCA4):c.141A>G (p.Pro47=)
|
rs4847281
|
0.98746
|
NM_017950.4(CCDC40):c.207G>C (p.Val69=)
|
rs2289527
|
0.98631
|
NM_003923.3(FOXH1):c.*20A>G
|
rs2721176
|
0.98630
|
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg)
|
rs10087163
|
0.98578
|
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)
|
rs27673
|
0.98545
|
NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
0.98540
|
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro)
|
rs2721190
|
0.98532
|
NM_000144.5(FXN):c.54A>G (p.Pro18=)
|
rs2481598
|
0.98511
|
NM_000399.5(EGR2):c.627= (p.Pro209=)
|
rs224083
|
0.98414
|
NM_006907.4(PYCR1):c.903A>G (p.Ser301=)
|
rs61747618
|
0.98394
|
NM_001035.3(RYR2):c.10935+18C>T
|
rs2797445
|
0.98361
|
NM_000843.4(GRM6):c.1308T>C (p.Thr436=)
|
rs4701014
|
0.98353
|
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=)
|
rs2562831
|
0.98238
|
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=)
|
rs2742348
|
0.98231
|
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=)
|
rs4672457
|
0.98181
|
NM_001201543.2(FAM161A):c.165T>G (p.Ala55=)
|
rs4270331
|
0.98177
|
NM_022489.4(INF2):c.105C>T (p.Pro35=)
|
rs4983530
|
0.98049
|
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)
|
rs206075
|
0.97986
|
NM_032575.3(GLIS2):c.864T>C (p.Tyr288=)
|
rs669561
|
0.97986
|
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.97933
|
NM_018249.6(CDK5RAP2):c.-3G>T
|
rs932975
|
0.97921
|
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala)
|
rs169547
|
0.97902
|
NM_006662.3(SRCAP):c.4218C>A (p.Ser1406=)
|
rs4889502
|
0.97867
|
NM_000070.3(CAPN3):c.*134C>T
|
rs3098423
|
0.97772
|
NM_020549.5(CHAT):c.-10T>G
|
rs7923716
|
0.97663
|
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=)
|
rs2471829
|
0.97643
|
NM_001370259.2(MEN1):c.1299T>C (p.His433=)
|
rs540012
|
0.97595
|
NM_014989.7(RIMS1):c.1083A>G (p.Leu361=)
|
rs2463730
|
0.97497
|
NM_018979.4(WNK1):c.258T>C (p.Cys86=)
|
rs3168640
|
0.97485
|
NM_000388.4(CASR):c.2244G>C (p.Pro748=)
|
rs2036400
|
0.97432
|
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=)
|
rs4894043
|
0.97302
|
NM_000088.4(COL1A1):c.3223= (p.Ala1075=)
|
rs1800215
|
0.97286
|
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)
|
rs820878
|
0.97243
|
NM_000168.6(GLI3):c.1356+11G>C
|
rs846273
|
0.97240
|
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu)
|
rs7684722
|
0.97162
|
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met)
|
rs2438378
|
0.97114
|
NM_000451.4(SHOX):c.277+17T>G
|
rs2239402
|
0.97040
|
NM_006214.4(PHYH):c.153C>T (p.Asn51=)
|
rs1747682
|
0.96869
|
NM_020779.4(WDR35):c.2824-14G>T
|
rs1191779
|
0.96807
|
NM_194318.4(B3GLCT):c.348T>C (p.His116=)
|
rs4943266
|
0.96681
|
NM_001429.4(EP300):c.2053+8G>T
|
rs6002267
|
0.96326
|
NM_002225.5(IVD):c.550+57A>G
|
rs4924466
|
0.96250
|
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)
|
rs1896976
|
0.96234
|
NM_012213.3(MLYCD):c.528+19T>C
|
rs446036
|
0.96188
|
NM_018249.6(CDK5RAP2):c.-19T>C
|
rs932974
|
0.96160
|
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=)
|
rs707189
|
0.96110
|
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=)
|
rs2685301
|
0.95962
|
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=)
|
rs2797441
|
0.95950
|
NM_033028.5(BBS4):c.906T>C (p.Phe302=)
|
rs12914333
|
0.95849
|
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)
|
rs2435322
|
0.95778
|
NM_000153.4(GALC):c.1698A>T (p.Val566=)
|
rs421466
|
0.95773
|
NM_153717.3(EVC):c.769C>T (p.Leu257=)
|
rs6446393
|
0.95639
|
NM_000153.4(GALC):c.1620A>G (p.Thr540=)
|
rs367327
|
0.95611
|
NM_000153.4(GALC):c.1834+5C>G
|
rs448805
|
0.95475
|
NM_002025.4(AFF2):c.3404+7A>G
|
rs5980615
|
0.95464
|
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)
|
rs421262
|
0.95462
|
NM_015386.3(COG4):c.485C>T (p.Thr162Ile)
|
rs3931036
|
0.95397
|
NM_003000.3(SDHB):c.18C>A (p.Ala6=)
|
rs2746462
|
0.95374
|
NM_001173467.3(SP7):c.1128T>C (p.His376=)
|
rs7138938
|
0.95333
|
NM_000702.4(ATP1A2):c.381+16C>T
|
rs2820581
|
0.95274
|
NM_000426.4(LAMA2):c.381C>A (p.Thr127=)
|
rs4404787
|
0.95273
|
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln)
|
rs1800280
|
0.95243
|
NM_016180.5(SLC45A2):c.987A>G (p.Thr329=)
|
rs2287949
|
0.95123
|
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)
|
rs6659553
|
0.94881
|
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=)
|
rs585692
|
0.94841
|
NM_005104.4(BRD2):c.1330-4G>C
|
rs3097644
|
0.94820
|
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu)
|
rs1552280
|
0.94745
|
NM_001349338.3(FOXP1):c.1889+20C>A
|
rs7638391
|
0.94569
|
NM_004795.4(KL):c.273T>C (p.Asp91=)
|
rs2772364
|
0.94529
|
NM_001876.4(CPT1A):c.556-16C>T
|
rs3019603
|
0.94412
|
NM_033028.5(BBS4):c.76+19G>T
|
rs4777527
|
0.94399
|
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=)
|
rs865358
|
0.94358
|
NM_001267550.2(TTN):c.4480+6C>T
|
rs719201
|
0.94227
|
NM_005413.4(SIX3):c.942A>G (p.Ala314=)
|
rs338074
|
0.93956
|
NM_000327.4(ROM1):c.353G>C (p.Gly118Ala)
|
rs1799959
|
0.93846
|
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly)
|
rs2438374
|
0.93517
|
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg)
|
rs2241088
|
0.93443
|
NM_006514.4(SCN10A):c.4866T>C (p.Ser1622=)
|
rs6599242
|
0.93283
|
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg)
|
rs4302331
|
0.93112
|
NM_002546.4(TNFRSF11B):c.401-5T>C
|
rs3134046
|
0.93049
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_174912.4(FAAH2):c.1229-14A>T
|
rs1821118
|
0.92912
|
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)
|
rs425876
|
0.92861
|
NM_000027.4(AGA):c.446C>G (p.Thr149Ser)
|
rs2228119
|
0.92759
|
NM_000191.3(HMGCL):c.654A>G (p.Leu218=)
|
rs719400
|
0.92712
|
NM_201253.3(CRB1):c.1410A>G (p.Leu470=)
|
rs3902057
|
0.92528
|
NM_000282.4(PCCA):c.914+19A>G
|
rs4306370
|
0.92464
|
NM_000478.6(ALPL):c.330T>C (p.Ser110=)
|
rs1780316
|
0.92311
|
NM_000443.4(ABCB4):c.2211+16C>T
|
rs31668
|
0.92183
|
NM_016032.4(ZDHHC9):c.487+15A>G
|
rs2275605
|
0.92100
|
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=)
|
rs2228502
|
0.92020
|
NM_031433.4(MFRP):c.540T>C (p.His180=)
|
rs2510143
|
0.91859
|
NM_006363.6(SEC23B):c.1233+9A>G
|
rs6081189
|
0.91788
|
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)
|
rs1801726
|
0.91749
|
NM_001130987.2(DYSF):c.5885-16T>C
|
rs1863812
|
0.91575
|
NM_001853.4(COL9A3):c.1603+14G>C
|
rs910152
|
0.91538
|
NM_001235.5(SERPINH1):c.234A>G (p.Leu78=)
|
rs584961
|
0.91533
|
NM_018714.3(COG1):c.2383-17T>C
|
rs3829571
|
0.91491
|
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly)
|
rs6504191
|
0.91477
|
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=)
|
rs5917933
|
0.91469
|
NM_000388.4(CASR):c.492+19G>A
|
rs9869985
|
0.91296
|
NM_174936.4(PCSK9):c.207+15A>G
|
rs2495482
|
0.91171
|
NM_000023.4(SGCA):c.*6T>C
|
rs2696288
|
0.91073
|
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)
|
rs941920
|
0.90936
|
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)
|
rs8037349
|
0.90740
|
NM_001360.3(DHCR7):c.438T>C (p.Asn146=)
|
rs949177
|
0.90629
|
NM_000540.3(RYR1):c.1077T>C (p.Ala359=)
|
rs10406027
|
0.90489
|
NM_001360.3(DHCR7):c.207T>C (p.Thr69=)
|
rs1790334
|
0.90380
|
NM_004817.4(TJP2):c.239+19T>C
|
rs2498417
|
0.90366
|
NM_001173467.3(SP7):c.1098C>T (p.Ser366=)
|
rs7139272
|
0.90326
|
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=)
|
rs4846051
|
0.90165
|
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=)
|
rs1989779
|
0.90157
|
NM_001927.4(DES):c.75A>G (p.Pro25=)
|
rs1318299
|
0.89847
|
NM_015192.4(PLCB1):c.3188+8C>T
|
rs2327089
|
0.89617
|
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)
|
rs6501820
|
0.89534
|
NM_001848.3(COL6A1):c.1525-60A>G
|
rs3737437
|
0.89527
|
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala)
|
rs2959656
|
0.89377
|
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=)
|
rs9938800
|
0.89252
|
NM_020166.5(MCCC1):c.396C>T (p.Leu132=)
|
rs7622479
|
0.89165
|
NM_002739.5(PRKCG):c.72C>T (p.Ala24=)
|
rs2547362
|
0.89099
|
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg)
|
rs7764472
|
0.88862
|
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser)
|
rs9840993
|
0.88650
|
NM_001184.4(ATR):c.7875G>A (p.Gln2625=)
|
rs1802904
|
0.88595
|
NM_001177316.2(SLC34A3):c.1538A>T (p.Glu513Val)
|
rs28542318
|
0.88574
|
NM_000404.4(GLB1):c.34T>C (p.Leu12=)
|
rs7614776
|
0.88431
|
NM_001848.3(COL6A1):c.1822+88A>G
|
rs7276782
|
0.88358
|
NM_130837.3(OPA1):c.1035+4T>C
|
rs166850
|
0.88294
|
NM_001077365.2(POMT1):c.876T>C (p.Thr292=)
|
rs10901065
|
0.88277
|
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=)
|
rs3739494
|
0.88273
|
NM_001077365.2(POMT1):c.*226T>C
|
rs3824395
|
0.88255
|
NM_005477.3(HCN4):c.3600A>G (p.Pro1200=)
|
rs529004
|
0.88237
|
NM_001848.3(COL6A1):c.1335+27A>C
|
rs2850173
|
0.88231
|
NM_001927.4(DES):c.93T>C (p.Ser31=)
|
rs2017800
|
0.88201
|
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_014208.3(DSPP):c.*17G>A
|
rs2615489
|
0.87779
|
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn)
|
rs2291310
|
0.87769
|
NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_001848.3(COL6A1):c.2434+15A>G
|
rs2236485
|
0.87616
|
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala)
|
rs6518289
|
0.87478
|
NM_006031.6(PCNT):c.2928C>G (p.Leu976=)
|
rs2839228
|
0.87375
|
NM_005902.4(SMAD3):c.309A>G (p.Leu103=)
|
rs1065080
|
0.87365
|
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met)
|
rs2291311
|
0.87338
|
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)
|
rs4782300
|
0.87223
|
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
NM_001848.3(COL6A1):c.428+14A>G
|
rs3746993
|
0.87078
|
NM_007214.5(SEC63):c.564C>T (p.Asn188=)
|
rs675117
|
0.87051
|
NM_001848.3(COL6A1):c.859-19A>G
|
rs2277814
|
0.86865
|
NM_000096.4(CP):c.1632A>T (p.Glu544Asp)
|
rs701753
|
0.86852
|
NM_005327.7(HADH):c.257T>C (p.Leu86Pro)
|
rs4956145
|
0.86661
|
NM_000466.3(PEX1):c.358-15G>A
|
rs38809
|
0.86650
|
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)
|
rs2229960
|
0.86626
|
NM_002098.6(GUCA1B):c.-17T>C
|
rs1474867
|
0.86573
|
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)
|
rs2228006
|
0.86482
|
NM_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.86241
|
NM_024079.4(ALG8):c.*20A>G
|
rs1263505
|
0.86211
|
NM_153747.2(PIGC):c.267T>C (p.Gly89=)
|
rs2230471
|
0.85989
|
NM_002181.4(IHH):c.1128T>C (p.Thr376=)
|
rs394452
|
0.85910
|
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=)
|
rs760241
|
0.85831
|
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=)
|
rs12445417
|
0.85761
|
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=)
|
rs4247094
|
0.85388
|
NM_198525.3(KIF7):c.2658A>C (p.Ala886=)
|
rs3803531
|
0.85312
|
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=)
|
rs8063574
|
0.85136
|
NM_000203.5(IDUA):c.99T>G (p.His33Gln)
|
rs10794537
|
0.85085
|
NM_181458.4(PAX3):c.129T>C (p.Gly43=)
|
rs12623857
|
0.84982
|
NM_001035.3(RYR2):c.2973A>G (p.Ser991=)
|
rs2253273
|
0.84980
|
NM_000277.3(PAH):c.1155C>G (p.Leu385=)
|
rs772897
|
0.84953
|
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=)
|
rs28580074
|
0.84910
|
NM_015102.5(NPHP4):c.2818-2=
|
rs1217117155
|
0.84829
|
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile)
|
rs161400
|
0.84806
|
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)
|
rs2064318
|
0.84569
|
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser)
|
rs2655655
|
0.84544
|
NM_001845.6(COL4A1):c.616-11G>C
|
rs645114
|
0.84459
|
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser)
|
rs11640794
|
0.84448
|
NM_004006.3(DMD):c.9649+15T>C
|
rs2293668
|
0.84201
|
NM_001077365.2(POMT1):c.2003+13C>T
|
rs4740165
|
0.84044
|
NM_001173990.3(TMEM216):c.432-11_432-10insA
|
rs11382548
|
0.83974
|
NM_144508.5(KNL1):c.259A>G (p.Thr87Ala)
|
rs12911738
|
0.83758
|
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)
|
rs1800354
|
0.83747
|
NM_015922.3(NSDHL):c.132T>G (p.Gly44=)
|
rs5969919
|
0.83345
|
NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser)
|
rs3732413
|
0.83326
|
NM_213599.3(ANO5):c.267T>C (p.Asp89=)
|
rs4312063
|
0.83210
|
NM_213599.3(ANO5):c.-136G>C
|
rs12792259
|
0.83191
|
NM_021101.5(CLDN1):c.369T>C (p.Gly123=)
|
rs9869263
|
0.83180
|
NM_001364905.1(LRBA):c.4569+9C>T
|
rs186080
|
0.83135
|
NM_013382.7(POMT2):c.1383G>A (p.Arg461=)
|
rs2270419
|
0.82874
|
NM_007373.4(SHOC2):c.1161+42T>C
|
rs1980869
|
0.82744
|
NM_000518.5(HBB):c.9T>C (p.His3=)
|
rs713040
|
0.82706
|
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=)
|
rs10064079
|
0.82429
|
NM_020549.5(CHAT):c.1641T>C (p.His547=)
|
rs8178992
|
0.82309
|
NM_001849.4(COL6A2):c.1332+26A>G
|
rs3737362
|
0.82158
|
NM_013382.7(POMT2):c.1911T>G (p.Leu637=)
|
rs3209079
|
0.82113
|
NM_000038.6(APC):c.5465T>A (p.Val1822Asp)
|
rs459552
|
0.82099
|
NM_000535.7(PMS2):c.780C>G (p.Ser260=)
|
rs1805319
|
0.82058
|
NM_152594.3(SPRED1):c.291G>A (p.Lys97=)
|
rs7182445
|
0.82029
|
NM_003282.4(TNNI2):c.60T>C (p.Ser20=)
|
rs907610
|
0.82025
|
NM_152594.3(SPRED1):c.424-8C>A
|
rs7180446
|
0.82015
|
NM_000274.4(OAT):c.648+14A>G
|
rs9422807
|
0.81973
|
NM_152594.3(SPRED1):c.1044T>C (p.Val348=)
|
rs3751526
|
0.81965
|
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=)
|
rs807022
|
0.81877
|
NM_005989.4(AKR1D1):c.*5A>C
|
rs1872929
|
0.81870
|
NM_004187.5(KDM5C):c.2243+11G>T
|
rs1977364
|
0.81756
|
NM_018297.4(NGLY1):c.1260+7T>G
|
rs6550987
|
0.81668
|
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro)
|
rs2270669
|
0.81638
|
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr)
|
rs807023
|
0.81454
|
NM_004473.4(FOXE1):c.387T>C (p.Leu129=)
|
rs3021523
|
0.81281
|
NM_000089.4(COL1A2):c.937-3C>T
|
rs42519
|
0.81243
|
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
|
rs4761829
|
0.81114
|
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His)
|
rs6711382
|
0.81103
|
NM_001849.4(COL6A2):c.1771-25A>G
|
rs2839113
|
0.81072
|
NM_015311.3(OBSL1):c.921T>C (p.Leu307=)
|
rs10180675
|
0.80936
|
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)
|
rs6911096
|
0.80856
|
NM_001008212.2(OPTN):c.553-5C>T
|
rs2244380
|
0.80823
|
NM_182914.3(SYNE2):c.6481C>T (p.Leu2161=)
|
rs10151127
|
0.80823
|
NM_018451.5(CENPJ):c.3216+7A>G
|
rs9318917
|
0.80822
|
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=)
|
rs1044394
|
0.80763
|
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)
|
rs9479297
|
0.80638
|
NM_000335.5(SCN5A):c.87A>G (p.Ala29=)
|
rs6599230
|
0.80621
|
NM_003701.4(TNFSF11):c.387+14G>A
|
rs2277439
|
0.80621
|
NM_006912.6(RIT1):c.430-7C>T
|
rs1749409
|
0.80479
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
NM_003863.4(DPM2):c.213T>C (p.Tyr71=)
|
rs6781
|
0.80380
|
NM_001034850.3(RETREG1):c.-19T>C
|
rs35003
|
0.80227
|
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)
|
rs1412640
|
0.80210
|
NM_006005.3(WFS1):c.997G>A (p.Val333Ile)
|
rs1801212
|
0.80149
|
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu)
|
rs7197071
|
0.80067
|
NM_000152.5(GAA):c.2331+20G>A
|
rs2304832
|
0.80041
|
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)
|
rs1227065
|
0.79969
|
NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn)
|
rs2241493
|
0.79957
|
NM_001199397.3(NEK1):c.2765-20G>A
|
rs7680152
|
0.79844
|
NM_000501.4(ELN):c.1315+17C>T
|
rs2856728
|
0.79828
|
NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro)
|
rs12882191
|
0.79682
|
NM_020975.6(RET):c.2307G>T (p.Leu769=)
|
rs1800861
|
0.79547
|
NM_020975.6(RET):c.135A>G (p.Ala45=)
|
rs1800858
|
0.79274
|
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg)
|
rs854777
|
0.79149
|
NM_025074.7(FRAS1):c.1947T>C (p.His649=)
|
rs345514
|
0.79008
|
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)
|
rs7349185
|
0.78899
|
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)
|
rs1762114
|
0.78856
|
NM_003477.3(PDHX):c.63C>T (p.Pro21=)
|
rs2956109
|
0.78720
|
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=)
|
rs2229785
|
0.78559
|
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)
|
rs1044393
|
0.78554
|
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)
|
rs390659
|
0.78498
|
NM_020921.4(NIN):c.3959G>A (p.Gly1320Glu)
|
rs2073347
|
0.78250
|
NM_182943.3(PLOD2):c.338+4G>A
|
rs4681297
|
0.77857
|
NM_001297.5(CNGB1):c.2635-10C>T
|
rs437920
|
0.77649
|
NM_054012.4(ASS1):c.597+18A>G
|
rs652313
|
0.77461
|
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr)
|
rs1979370
|
0.77449
|
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)
|
rs434102
|
0.77412
|
NM_018136.5(ASPM):c.10331+8A>G
|
rs10754213
|
0.77181
|
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)
|
rs624851
|
0.77065
|
NM_000487.6(ARSA):c.1210+20C>G
|
rs762674
|
0.76867
|
NM_001292063.2(OTOG):c.4087G>C (p.Ala1363Pro)
|
rs7934079
|
0.76845
|
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys)
|
rs2366928
|
0.76700
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_000070.3(CAPN3):c.1537-48T>C
|
rs2241827
|
0.76381
|
NM_006329.4(FBLN5):c.945T>C (p.Ile315=)
|
rs2430347
|
0.76291
|
NM_032119.4(ADGRV1):c.2367+8C>T
|
rs2366773
|
0.76285
|
NM_015404.4(WHRN):c.1353T>C (p.Gly451=)
|
rs4979387
|
0.76260
|
NM_000642.3(AGL):c.894C>T (p.Leu298=)
|
rs2230306
|
0.76251
|
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)
|
rs1249463
|
0.76080
|
NM_004281.4(BAG3):c.1296A>G (p.Val432=)
|
rs196295
|
0.75935
|
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser)
|
rs3803183
|
0.75794
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_001844.5(COL2A1):c.85+18C>G
|
rs3803184
|
0.75547
|
NM_021957.4(GYS2):c.1229+11G>A
|
rs1871137
|
0.75356
|
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
|
rs4630153
|
0.75355
|
NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe)
|
rs1008328
|
0.75234
|
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala)
|
rs2228576
|
0.75229
|
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=)
|
rs4766309
|
0.75219
|
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=)
|
rs2797235
|
0.74921
|
NM_000263.4(NAGLU):c.531+50G>C
|
rs2071046
|
0.74899
|
NM_018136.5(ASPM):c.441+14C>T
|
rs1571964
|
0.74895
|
NM_018136.5(ASPM):c.849C>T (p.Ser283=)
|
rs6677082
|
0.74886
|
NM_030662.4(MAP2K2):c.919+12A>G
|
rs350911
|
0.74641
|
NM_001286445.3(RIPOR2):c.2811T>C (p.Ser937=)
|
rs9358804
|
0.74640
|
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val)
|
rs10882993
|
0.74523
|
NM_000843.4(GRM6):c.1131C>T (p.Asp377=)
|
rs2071246
|
0.74455
|
NM_020975.6(RET):c.1296A>G (p.Ala432=)
|
rs1800860
|
0.74268
|
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)
|
rs2366777
|
0.74245
|
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)
|
rs2839110
|
0.74122
|
NM_004320.6(ATP2A1):c.*64G>A
|
rs10499
|
0.74014
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_020451.3(SELENON):c.1173T>C (p.Pro391=)
|
rs760597
|
0.73933
|
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
|
rs6432860
|
0.73885
|
NM_005422.4(TECTA):c.2805T>C (p.Tyr935=)
|
rs586473
|
0.73877
|
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)
|
rs2298771
|
0.73872
|
NM_000405.5(GM2A):c.205A>G (p.Met69Val)
|
rs153478
|
0.73795
|
NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=)
|
rs2877561
|
0.73781
|
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)
|
rs4916684
|
0.73682
|
NM_080680.3(COL11A2):c.3313-11C>T
|
rs2855437
|
0.73560
|
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala)
|
rs3911730
|
0.73528
|
NM_000429.3(MAT1A):c.870A>G (p.Val290=)
|
rs10788546
|
0.73313
|
NM_000429.3(MAT1A):c.882T>C (p.Ala294=)
|
rs10887711
|
0.73311
|
NM_138694.4(PKHD1):c.8798-19A>C
|
rs1326605
|
0.73187
|
NM_004560.4(ROR2):c.*16G>A
|
rs2230578
|
0.73170
|
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr)
|
rs10779261
|
0.73169
|
NM_003850.3(SUCLA2):c.371+9C>T
|
rs6561424
|
0.73019
|
NM_001200.4(BMP2):c.570A>T (p.Arg190Ser)
|
rs235768
|
0.72782
|
NM_022336.4(EDAR):c.1056C>T (p.Cys352=)
|
rs12623957
|
0.72397
|
NM_153717.3(EVC):c.772T>C (p.Tyr258His)
|
rs6414624
|
0.72068
|
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
|
rs5219
|
0.72048
|
NM_020822.3(KCNT1):c.1769+16A>G
|
rs10776844
|
0.72033
|
NM_000152.5(GAA):c.2040+20A>G
|
rs2304836
|
0.72004
|
NM_000240.4(MAOA):c.891G>T (p.Arg297=)
|
rs6323
|
0.71997
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)
|
rs757110
|
0.71935
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_178138.6(LHX3):c.79+2007T>C
|
rs2274115
|
0.71807
|
NM_000275.3(OCA2):c.1183-4A>G
|
rs10852218
|
0.71746
|
NM_006005.3(WFS1):c.*47T>C
|
rs1046317
|
0.71708
|
NM_018475.5(TMEM165):c.18A>G (p.Pro6=)
|
rs1128141
|
0.71708
|
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile)
|
rs10761129
|
0.71630
|
NM_001384140.1(PCDH15):c.706-8C>T
|
rs10740579
|
0.71606
|
NM_000179.3(MSH6):c.3557-144G>A
|
rs7562367
|
0.71536
|
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg)
|
rs13045
|
0.71334
|
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=)
|
rs1051419
|
0.71278
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.71202
|
NM_003019.5(SFTPD):c.538A>G (p.Thr180Ala)
|
rs2243639
|
0.71180
|
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=)
|
rs7135542
|
0.71178
|
NM_001200.4(BMP2):c.261A>G (p.Ser87=)
|
rs1049007
|
0.70846
|
NM_002076.4(GNS):c.198G>A (p.Pro66=)
|
rs1147096
|
0.70681
|
NM_025136.4(OPA3):c.231T>C (p.Ala77=)
|
rs3826860
|
0.70508
|
NM_006005.3(WFS1):c.2565A>G (p.Ser855=)
|
rs1046316
|
0.70506
|
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val)
|
rs897471
|
0.70428
|
NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=)
|
rs2985686
|
0.70412
|
NM_000033.4(ABCD1):c.*8G>C
|
rs2229539
|
0.70012
|
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu)
|
rs10497520
|
0.69988
|
NM_001848.3(COL6A1):c.588+13C>A
|
rs754507
|
0.69697
|
NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro)
|
rs784133
|
0.69639
|
NM_004006.3(DMD):c.2645A>G (p.Asp882Gly)
|
rs228406
|
0.69509
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
NM_003361.4(UMOD):c.522C>T (p.Cys174=)
|
rs7193058
|
0.69325
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
NM_006013.5(RPL10):c.605= (p.Ser202=)
|
rs4909
|
0.69154
|
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val)
|
rs1044009
|
0.69087
|
NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met)
|
rs1136287
|
0.69033
|
NM_006941.4(SOX10):c.927T>C (p.His309=)
|
rs139884
|
0.68861
|
NM_000101.4(CYBA):c.521T>C (p.Val174Ala)
|
rs1049254
|
0.68722
|
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)
|
rs2744380
|
0.68624
|
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr)
|
rs6728818
|
0.68552
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_006005.3(WFS1):c.684C>G (p.Arg228=)
|
rs1801213
|
0.68223
|
NM_032638.5(GATA2):c.15C>G (p.Pro5=)
|
rs1573858
|
0.68160
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.68008
|
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)
|
rs11080572
|
0.67857
|
NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu)
|
rs2074435
|
0.67813
|
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr)
|
rs6657250
|
0.67783
|
NM_004385.5(VCAN):c.4323G>A (p.Gln1441=)
|
rs2548541
|
0.67722
|
NM_006796.3(AFG3L2):c.752+6C>T
|
rs8097342
|
0.67671
|
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=)
|
rs5926304
|
0.67668
|
NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe)
|
rs16891982
|
0.67617
|
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg)
|
rs2073376
|
0.67500
|
NM_006031.6(PCNT):c.7914-16C>T
|
rs2839257
|
0.67468
|
NM_025074.7(FRAS1):c.6468C>T (p.His2156=)
|
rs753752
|
0.67410
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)
|
rs9294631
|
0.67363
|
NM_170682.4(P2RX2):c.468T>C (p.Thr156=)
|
rs7964634
|
0.67274
|
NM_006031.6(PCNT):c.720+17T>C
|
rs9982233
|
0.67221
|
NM_033100.4(CDHR1):c.*4A>G
|
rs3814212
|
0.67129
|
NM_153717.3(EVC):c.939+10A>G
|
rs2286342
|
0.67122
|
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile)
|
rs11559290
|
0.67086
|
NM_001035.3(RYR2):c.13783-6A>G
|
rs790901
|
0.66919
|
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg)
|
rs688906
|
0.66697
|
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)
|
rs4674
|
0.66668
|
NM_005029.4(PITX3):c.285C>T (p.Ile95=)
|
rs2281983
|
0.66644
|
NM_001035.3(RYR2):c.13913+12A>C
|
rs790900
|
0.66578
|
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn)
|
rs12711538
|
0.66550
|
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)
|
rs284652
|
0.66509
|
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala)
|
rs10820900
|
0.66416
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=)
|
rs2633852
|
0.66322
|
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=)
|
rs1139789
|
0.66312
|
NM_000282.4(PCCA):c.1644-31A>G
|
rs9518061
|
0.66246
|
NM_182914.3(SYNE2):c.20062-119G>C
|
rs1152588
|
0.66235
|
NM_201384.3(PLEC):c.2457+6C>T
|
rs11780911
|
0.66214
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=)
|
rs7580482
|
0.66162
|
NM_194318.4(B3GLCT):c.1108G>A (p.Glu370Lys)
|
rs1041073
|
0.66142
|
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=)
|
rs238547
|
0.66128
|
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=)
|
rs1399961
|
0.66054
|
NM_001008216.2(GALE):c.873+13G>A
|
rs760941
|
0.65959
|
NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)
|
rs2985684
|
0.65918
|
NM_012463.4(ATP6V0A2):c.432+14C>T
|
rs11837144
|
0.65907
|
NM_001244710.2(GFPT1):c.1105+7A>G
|
rs6722492
|
0.65895
|
NM_018139.3(DNAAF2):c.498C>T (p.Ala166=)
|
rs2985685
|
0.65889
|
NM_022437.3(ABCG8):c.1412-8C>T
|
rs28517482
|
0.65816
|
NM_000152.5(GAA):c.547-39T>G
|
rs12452721
|
0.65696
|
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_014000.3(VCL):c.875-24T>A
|
rs1908339
|
0.65590
|
NM_018139.3(DNAAF2):c.1482A>G (p.Thr494=)
|
rs2985687
|
0.65543
|
NM_000152.5(GAA):c.1438-19G>C
|
rs2304844
|
0.65495
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
NM_000240.4(MAOA):c.1410T>C (p.Asp470=)
|
rs1137070
|
0.65298
|
NM_006096.4(NDRG1):c.64-6T>C
|
rs2272653
|
0.65276
|
NM_001277313.2(FMN1):c.3714+12T>C
|
rs173224
|
0.65169
|
NM_207391.3(RGS9BP):c.*2G>A
|
rs259291
|
0.65138
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65135
|
NM_000152.5(GAA):c.858+30T>C
|
rs2304845
|
0.65092
|
NM_000277.3(PAH):c.696G>A (p.Gln232=)
|
rs1126758
|
0.64991
|
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His)
|
rs1054645
|
0.64981
|
NM_000262.3(NAGA):c.279G>A (p.Pro93=)
|
rs133369
|
0.64950
|
NM_001164508.2(NEB):c.24766-18C>T
|
rs2288195
|
0.64910
|
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=)
|
rs4543051
|
0.64838
|
NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile)
|
rs571391
|
0.64801
|
NM_006348.5(COG5):c.895T>C (p.Phe299Leu)
|
rs2269970
|
0.64619
|
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala)
|
rs846266
|
0.64495
|
NM_000631.5(NCF4):c.528+16A>G
|
rs2072708
|
0.64364
|
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)
|
rs4961206
|
0.64246
|
NM_000540.3(RYR1):c.1668G>A (p.Ser556=)
|
rs2288888
|
0.64200
|
NM_001378964.1(CDON):c.223G>A (p.Val75Ile)
|
rs3740912
|
0.64193
|
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=)
|
rs586592
|
0.64171
|
NM_000163.5(GHR):c.558A>G (p.Gly186=)
|
rs6179
|
0.64137
|
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)
|
rs7575451
|
0.64120
|
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)
|
rs2294228
|
0.64022
|
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
|
rs2248069
|
0.64010
|
NM_006005.3(WFS1):c.1500C>T (p.Asn500=)
|
rs1801214
|
0.63787
|
NM_015910.7(WDPCP):c.1915+13G>A
|
rs992214
|
0.63738
|
NM_001184.4(ATR):c.1776T>A (p.Gly592=)
|
rs2227930
|
0.63717
|
NM_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala)
|
rs17855830
|
0.63679
|
NM_001184.4(ATR):c.632T>C (p.Met211Thr)
|
rs2227928
|
0.63625
|
NM_000709.4(BCKDHA):c.995+49G>A
|
rs284654
|
0.63462
|
NM_001701.4(BAAT):c.59G>A (p.Arg20Gln)
|
rs1572983
|
0.63259
|
NM_006005.3(WFS1):c.461-9A>G
|
rs10010131
|
0.63169
|
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=)
|
rs1128503
|
0.63165
|
NM_004473.4(FOXE1):c.825C>T (p.Ser275=)
|
rs3021526
|
0.63054
|
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=)
|
rs2229849
|
0.63028
|
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val)
|
rs2229848
|
0.62946
|
NM_000540.3(RYR1):c.2286C>T (p.Pro762=)
|
rs3745847
|
0.62871
|
NM_001127644.2(GABRA1):c.1059+15G>A
|
rs2279020
|
0.62825
|
NM_000350.3(ABCA4):c.4773+48C>T
|
rs472908
|
0.62724
|
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)
|
rs4489420
|
0.62688
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_002225.5(IVD):c.234+14T>C
|
rs2289331
|
0.62561
|
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu)
|
rs6818847
|
0.62431
|
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=)
|
rs3736455
|
0.62273
|
NM_000405.5(GM2A):c.175A>G (p.Ile59Val)
|
rs153477
|
0.62259
|
NM_006005.3(WFS1):c.461-15C>T
|
rs9998519
|
0.62200
|
NM_003793.4(CTSF):c.1401T>C (p.Arg467=)
|
rs572846
|
0.62182
|
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln)
|
rs6415788
|
0.62075
|
NM_001012720.2(RGR):c.27T>C (p.Thr9=)
|
rs2279227
|
0.62051
|
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg)
|
rs2229857
|
0.61729
|
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe)
|
rs780668
|
0.61569
|
NM_014271.4(IL1RAPL1):c.-19G>A
|
rs6526806
|
0.61514
|
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=)
|
rs10167980
|
0.61468
|
NM_003673.4(TCAP):c.453A>C (p.Ala151=)
|
rs1053651
|
0.61044
|
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser)
|
rs3738880
|
0.61025
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
NM_024312.5(GNPTAB):c.3135+5T>C
|
rs759935
|
0.60955
|
NM_014336.5(AIPL1):c.300A>G (p.Leu100=)
|
rs8075035
|
0.60839
|
NM_001035.3(RYR2):c.13476+16A>G
|
rs2256242
|
0.60593
|
NM_001130987.2(DYSF):c.1449+13C>T
|
rs4852801
|
0.60553
|
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=)
|
rs1980982
|
0.60426
|
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp)
|
rs7216673
|
0.60248
|
NM_000540.3(RYR1):c.2943G>A (p.Thr981=)
|
rs2228069
|
0.60233
|
NM_002546.4(TNFRSF11B):c.9C>G (p.Asn3Lys)
|
rs2073618
|
0.60108
|
NM_183050.4(BCKDHB):c.841-73C>T
|
rs3828753
|
0.60052
|
NM_000231.3(SGCG):c.705T>C (p.Leu235=)
|
rs1800353
|
0.60006
|
NM_001429.4(EP300):c.3183T>A (p.Thr1061=)
|
rs20552
|
0.59984
|
NM_198525.3(KIF7):c.1788+13T>C
|
rs1110060
|
0.59982
|
NM_133497.4(KCNV2):c.183C>G (p.Gly61=)
|
rs10967705
|
0.59972
|
NM_001287.6(CLCN7):c.126T>C (p.Pro42=)
|
rs3751884
|
0.59955
|
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys)
|
rs2276288
|
0.59864
|
NM_000322.5(PRPH2):c.318T>C (p.Val106=)
|
rs7764439
|
0.59853
|
NM_001364171.2(ODAD1):c.2019T>C (p.Ser673=)
|
rs7252988
|
0.59744
|
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp)
|
rs2058194
|
0.59717
|
NM_006416.5(SLC35A1):c.-18G>C
|
rs9450704
|
0.59575
|
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)
|
rs2229589
|
0.59558
|
NM_000038.6(APC):c.5034G>A (p.Gly1678=)
|
rs42427
|
0.59504
|
NM_001189.4(NKX3-2):c.247C>A (p.Arg83=)
|
rs9684692
|
0.59492
|
NM_000038.6(APC):c.5880G>A (p.Pro1960=)
|
rs465899
|
0.59308
|
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)
|
rs1801475
|
0.59301
|
NM_000038.6(APC):c.5268T>G (p.Ser1756=)
|
rs866006
|
0.59230
|
NM_000038.6(APC):c.4479G>A (p.Thr1493=)
|
rs41115
|
0.59177
|
NM_000038.6(APC):c.1635G>A (p.Ala545=)
|
rs351771
|
0.59150
|
NM_000709.4(BCKDHA):c.376-10A>C
|
rs3213861
|
0.59120
|
NM_001134831.2(AHI1):c.3426+13G>A
|
rs6914831
|
0.59084
|
NM_001360.3(DHCR7):c.189G>A (p.Gln63=)
|
rs1044482
|
0.59041
|
NM_000275.3(OCA2):c.1065G>A (p.Ala355=)
|
rs1800404
|
0.59023
|
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val)
|
rs8589
|
0.58978
|
NM_001039141.3(TRIOBP):c.3899A>G (p.His1300Arg)
|
rs739138
|
0.58971
|
NM_002206.3(ITGA7):c.1282-11T>C
|
rs2293412
|
0.58963
|
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala)
|
rs891398
|
0.58886
|
NM_005908.4(MANBA):c.850-31T>C
|
rs227365
|
0.58834
|
NM_006846.4(SPINK5):c.1659C>T (p.Val553=)
|
rs2303071
|
0.58781
|
NM_014049.5(ACAD9):c.347-20C>T
|
rs1683791
|
0.58733
|
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=)
|
rs10778148
|
0.58708
|
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)
|
rs2229974
|
0.58641
|
NM_002181.4(IHH):c.753T>C (p.Pro251=)
|
rs3731881
|
0.58582
|
NM_000255.4(MMUT):c.636G>A (p.Lys212=)
|
rs2229384
|
0.58567
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
|
rs9911502
|
0.58492
|
NM_001848.3(COL6A1):c.1461+18C>A
|
rs2276254
|
0.58488
|
NM_201548.5(CERKL):c.896-18T>A
|
rs13003064
|
0.58461
|
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)
|
rs10864198
|
0.58403
|
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=)
|
rs3814213
|
0.58250
|
NM_030665.4(RAI1):c.1992G>A (p.Pro664=)
|
rs8067439
|
0.58185
|
NM_001080413.3(NOBOX):c.1549T>C (p.Phe517Leu)
|
rs2699503
|
0.58167
|
NM_006080.3(SEMA3A):c.2151A>G (p.Thr717=)
|
rs797821
|
0.58113
|
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro)
|
rs2270968
|
0.58081
|
NM_006005.3(WFS1):c.2433G>A (p.Lys811=)
|
rs1046314
|
0.57941
|
NM_080680.3(COL11A2):c.2628+3G>A
|
rs970901
|
0.57903
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile)
|
rs1130866
|
0.57811
|
NM_001032382.2(PQBP1):c.180-3C>T
|
rs741932
|
0.57792
|
NM_080916.3(DGUOK):c.*13A>T
|
rs4777
|
0.57593
|
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)
|
rs9648691
|
0.57506
|
NM_000843.4(GRM6):c.176A>C (p.Gln59Pro)
|
rs2645329
|
0.57334
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_000843.4(GRM6):c.1392A>G (p.Gly464=)
|
rs11746675
|
0.57251
|
NM_198525.3(KIF7):c.3112-11_3112-10insCT
|
rs35820949
|
0.57089
|
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala)
|
rs2287622
|
0.57004
|
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=)
|
rs1051375
|
0.57002
|
NM_000516.7(GNAS):c.393C>T (p.Ile131=)
|
rs7121
|
0.56988
|
NM_006059.4(LAMC3):c.219T>G (p.His73Gln)
|
rs3739512
|
0.56936
|
NM_000287.4(PEX6):c.1961+20G>A
|
rs2274514
|
0.56870
|
NM_000287.4(PEX6):c.2814G>A (p.Glu938=)
|
rs1129186
|
0.56758
|
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=)
|
rs6747673
|
0.56670
|
NM_000260.4(MYO7A):c.5857-7A>T
|
rs1320703
|
0.56654
|
NM_006005.3(WFS1):c.1185C>T (p.Val395=)
|
rs1801206
|
0.56648
|
NM_000018.4(ACADVL):c.1605+6T>C
|
rs17671352
|
0.56622
|
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=)
|
rs3790993
|
0.56512
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_001365536.1(SCN9A):c.2105-14C>T
|
rs6432893
|
0.56480
|
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly)
|
rs10798035
|
0.56453
|
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=)
|
rs909217
|
0.56172
|
NM_018055.5(NODAL):c.494A>G (p.His165Arg)
|
rs1904589
|
0.56006
|
NM_016239.4(MYO15A):c.7857G>A (p.Gly2619=)
|
rs854772
|
0.55976
|
NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn)
|
rs4698797
|
0.55919
|
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)
|
rs4664475
|
0.55659
|
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=)
|
rs6558406
|
0.55590
|
NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu)
|
rs764205
|
0.55477
|
NM_000251.3(MSH2):c.211+9C>G
|
rs2303426
|
0.55454
|
NM_005908.4(MANBA):c.2015-28G>A
|
rs4547797
|
0.55331
|
NM_005908.4(MANBA):c.2368T>C (p.Leu790=)
|
rs2272697
|
0.55313
|
NM_004260.4(RECQL4):c.132A>G (p.Glu44=)
|
rs2306386
|
0.54741
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_207391.3(RGS9BP):c.286G>T (p.Ala96Ser)
|
rs259290
|
0.54611
|
NM_000275.3(OCA2):c.1551C>T (p.Cys517=)
|
rs1800411
|
0.54427
|
NM_001849.4(COL6A2):c.2462-35C>T
|
rs7279622
|
0.54180
|
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=)
|
rs6558405
|
0.54173
|
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=)
|
rs7014582
|
0.54076
|
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)
|
rs6647476
|
0.54054
|
NM_000059.4(BRCA2):c.7806-14T>C
|
rs9534262
|
0.53977
|
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=)
|
rs7822511
|
0.53938
|
NM_001018113.3(FANCB):c.1327-10T>C
|
rs2905223
|
0.53797
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_020661.4(AICDA):c.465C>T (p.His155=)
|
rs2028373
|
0.53597
|
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)
|
rs9672286
|
0.53592
|
NM_198525.3(KIF7):c.2896-14G>A
|
rs9672296
|
0.53577
|
NM_004994.3(MMP9):c.1821A>C (p.Gly607=)
|
rs13969
|
0.53502
|
NM_001159699.2(FHL1):c.737-8C>T
|
rs2076705
|
0.53498
|
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro)
|
rs7833924
|
0.53335
|
NM_001035.3(RYR2):c.677-11T>A
|
rs10754602
|
0.53281
|
NM_001793.6(CDH3):c.2239C>A (p.Arg747=)
|
rs17715450
|
0.53279
|
NM_174912.4(FAAH2):c.1404T>C (p.Pro468=)
|
rs1367830
|
0.53243
|
NM_014425.5(INVS):c.2412T>C (p.Ser804=)
|
rs2787374
|
0.53208
|
NM_020223.4(FAM20C):c.1659G>T (p.Val553=)
|
rs36170987
|
0.52970
|
NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala)
|
rs9938550
|
0.52796
|
NM_025193.4(HSD3B7):c.1068T>C (p.Arg356=)
|
rs2305880
|
0.52781
|
NM_001985.3(ETFB):c.461C>T (p.Thr154Met)
|
rs1130426
|
0.52772
|
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)
|
rs9381994
|
0.52715
|
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)
|
rs12900805
|
0.52523
|
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=)
|
rs2438349
|
0.52519
|
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)
|
rs3803530
|
0.52464
|
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg)
|
rs4715227
|
0.52431
|
NM_014336.5(AIPL1):c.277-10A>C
|
rs12453262
|
0.52383
|
NM_000088.4(COL1A1):c.4249-12G>A
|
rs2249492
|
0.52233
|
NM_000181.4(GUSB):c.1065+27C>G
|
rs781143
|
0.52153
|
NM_000017.4(ACADS):c.321T>C (p.Arg107=)
|
rs3914
|
0.51709
|
NM_001035.3(RYR2):c.1359C>T (p.Ser453=)
|
rs3765097
|
0.51474
|
NM_001848.3(COL6A1):c.1822+80G>A
|
rs7283989
|
0.51414
|
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
NM_000275.3(OCA2):c.1365-15C>T
|
rs12910433
|
0.51222
|
NM_001953.5(TYMP):c.972C>T (p.Ala324=)
|
rs131804
|
0.51130
|
NM_002485.5(NBN):c.1197T>C (p.Asp399=)
|
rs709816
|
0.51063
|
NM_003630.3(PEX3):c.942-13A>G
|
rs161058
|
0.51037
|
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser)
|
rs1026128
|
0.50958
|
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile)
|
rs2303729
|
0.50929
|
NM_000088.4(COL1A1):c.2560-18C>G
|
rs2075559
|
0.50861
|
NM_001012720.2(RGR):c.459C>T (p.Tyr153=)
|
rs1042454
|
0.50840
|
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=)
|
rs3749877
|
0.50817
|
NM_031220.4(PITPNM3):c.705C>T (p.Thr235=)
|
rs938288
|
0.50749
|
NM_182914.3(SYNE2):c.19333+5C>T
|
rs1152590
|
0.50736
|
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=)
|
rs3749878
|
0.50693
|
NM_001033859.2(ACADVL):c.-63_-49dup
|
rs6145976
|
0.50677
|
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro)
|
rs9530
|
0.50676
|
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val)
|
rs6485702
|
0.50674
|
NM_021098.3(CACNA1H):c.1809A>G (p.Arg603=)
|
rs9934839
|
0.50649
|
NM_000843.4(GRM6):c.1353T>C (p.Asn451=)
|
rs2067011
|
0.50613
|
NM_014008.5(CCDC22):c.1540-18T>C
|
rs2294021
|
0.50585
|
NM_004385.5(VCAN):c.4547A>G (p.Lys1516Arg)
|
rs309559
|
0.50554
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser)
|
rs9342464
|
0.50535
|
NM_005529.7(HSPG2):c.3897G>A (p.Val1299=)
|
rs2229482
|
0.50526
|
NM_004385.5(VCAN):c.5808T>C (p.Gly1936=)
|
rs309557
|
0.50487
|
NM_001848.3(COL6A1):c.2251-29C>T
|
rs35796750
|
0.50435
|
NM_004385.5(VCAN):c.6723A>G (p.Arg2241=)
|
rs160279
|
0.50384
|
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=)
|
rs7819099
|
0.50384
|
NM_002968.3(SALL1):c.2574C>T (p.Leu858=)
|
rs1965024
|
0.50381
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
NM_022464.5(SIL1):c.153A>G (p.Thr51=)
|
rs3088052
|
0.50252
|
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)
|
rs7624750
|
0.50224
|
NM_001277115.2(DNAH11):c.4377+15A>G
|
rs57208694
|
0.50202
|
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)
|
rs9851685
|
0.50117
|
NM_000260.4(MYO7A):c.783T>C (p.Gly261=)
|
rs762667
|
0.50077
|
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)
|
rs3753841
|
0.50032
|
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)
|
rs10864219
|
0.50009
|
NM_005045.4(RELN):c.8046T>C (p.His2682=)
|
rs2229864
|
0.49951
|
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=)
|
rs12210295
|
0.49949
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=)
|
rs2645339
|
0.49941
|
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=)
|
rs1129768
|
0.49865
|
NM_001848.3(COL6A1):c.1399-32T>C
|
rs2839077
|
0.49659
|
NM_005045.4(RELN):c.578-3T>C
|
rs607755
|
0.49658
|
NM_002206.3(ITGA7):c.334+19A>G
|
rs2293413
|
0.49590
|
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=)
|
rs1056837
|
0.49486
|
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)
|
rs2304854
|
0.49481
|
NM_001605.3(AARS1):c.903C>T (p.His301=)
|
rs2070203
|
0.49332
|
NM_000875.5(IGF1R):c.1590-20T>C
|
rs2272037
|
0.49319
|
NM_001297.5(CNGB1):c.2218-12C>T
|
rs483053
|
0.49292
|
NM_014845.6(FIG4):c.1948+3A>G
|
rs10499054
|
0.49269
|
NM_001849.4(COL6A2):c.1116+32G>A
|
rs7279347
|
0.49217
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
NM_017617.5(NOTCH1):c.2588-4G>A
|
rs3125001
|
0.48926
|
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793
|
0.48793
|
NM_001848.3(COL6A1):c.1956+15C>T
|
rs11701124
|
0.48762
|
NM_000104.4(CYP1B1):c.1294= (p.Leu432=)
|
rs1056836
|
0.48746
|
NM_001130987.2(DYSF):c.1034-20G>A
|
rs12713756
|
0.48623
|
NM_000243.3(MEFV):c.306T>C (p.Asp102=)
|
rs224225
|
0.48544
|
NM_002206.3(ITGA7):c.1952G>A (p.Arg651His)
|
rs1800974
|
0.48530
|
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His)
|
rs2070426
|
0.48521
|
NM_000243.3(MEFV):c.495C>A (p.Ala165=)
|
rs224223
|
0.48450
|
NM_002335.4(LRP5):c.884-4T>C
|
rs314776
|
0.48379
|
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)
|
rs743616
|
0.48362
|
NM_004183.4(BEST1):c.109T>C (p.Leu37=)
|
rs1800007
|
0.48331
|
NM_001035.3(RYR2):c.1612+14T>C
|
rs2045955
|
0.48321
|
NM_019109.5(ALG1):c.1149C>T (p.Phe383=)
|
rs1047732
|
0.48295
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
NM_017617.5(NOTCH1):c.1555+10A>G
|
rs11145767
|
0.47945
|
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr)
|
rs942519
|
0.47944
|
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
|
rs2303606
|
0.47852
|
NM_001035.3(RYR2):c.7806C>T (p.His2602=)
|
rs684923
|
0.47802
|
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=)
|
rs3742165
|
0.47759
|
NM_052859.4(RFT1):c.1623A>G (p.Thr541=)
|
rs11242
|
0.47740
|
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=)
|
rs7927472
|
0.47702
|
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)
|
rs1048099
|
0.47531
|
NM_001386140.1(MTTP):c.453T>C (p.Gly151=)
|
rs991811
|
0.47516
|
NM_000275.3(OCA2):c.2328T>C (p.Ala776=)
|
rs1800419
|
0.47440
|
NM_002206.3(ITGA7):c.3184-12G>C
|
rs3852533
|
0.47439
|
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)
|
rs6493068
|
0.47359
|
NM_000231.3(SGCG):c.312T>G (p.Leu104=)
|
rs1800351
|
0.47318
|
NM_002206.3(ITGA7):c.2004-19G>A
|
rs2293410
|
0.47288
|
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=)
|
rs2296533
|
0.47237
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
NM_000350.3(ABCA4):c.1240-14C>T
|
rs4147830
|
0.47169
|
NM_017617.5(NOTCH1):c.1670-9A>G
|
rs3124603
|
0.47096
|
NM_144997.7(FLCN):c.1062+6C>T
|
rs8065832
|
0.47076
|
NM_001252024.2(TRPM1):c.1305G>A (p.Thr435=)
|
rs1035705
|
0.47013
|
NM_000038.6(APC):c.1458T>C (p.Tyr486=)
|
rs2229992
|
0.46792
|
NM_002381.5(MATN3):c.447C>T (p.Ala149=)
|
rs28598872
|
0.46576
|
NM_000199.5(SGSH):c.663+17T>C
|
rs6565647
|
0.46516
|
NM_001848.3(COL6A1):c.-5C>G
|
rs7671
|
0.46506
|
NM_002381.5(MATN3):c.615G>A (p.Glu205=)
|
rs28401180
|
0.46446
|
NM_001297.5(CNGB1):c.1122-15C>T
|
rs2303778
|
0.46316
|
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
|
rs1055138
|
0.46276
|
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=)
|
rs497692
|
0.46166
|
NM_005751.5(AKAP9):c.5163-20G>A
|
rs9785013
|
0.46162
|
NM_000243.3(MEFV):c.1588-69G>A
|
rs224205
|
0.46073
|
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)
|
rs1799821
|
0.46024
|
NM_001277115.2(DNAH11):c.705C>T (p.Asn235=)
|
rs10950854
|
0.45869
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)
|
rs11120047
|
0.45814
|
NM_002435.3(MPI):c.1131A>G (p.Val377=)
|
rs1130741
|
0.45813
|
NM_000751.3(CHRND):c.12A>G (p.Pro4=)
|
rs2245601
|
0.45730
|
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=)
|
rs1056875
|
0.45696
|
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln)
|
rs10644111
|
0.45670
|
NM_138694.4(PKHD1):c.8302+12T>A
|
rs1571084
|
0.45597
|
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=)
|
rs1635553
|
0.45566
|
NM_024596.5(MCPH1):c.2215-19A>G
|
rs2936531
|
0.45478
|
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
NM_001849.4(COL6A2):c.928-19C>T
|
rs762438
|
0.45414
|
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)
|
rs3747562
|
0.45408
|
NM_014049.5(ACAD9):c.379A>C (p.Arg127=)
|
rs1680778
|
0.45398
|
NM_000217.3(KCNA1):c.*9G>A
|
rs4766310
|
0.45248
|
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=)
|
rs1063353
|
0.45235
|
NM_133497.4(KCNV2):c.795C>G (p.Ala265=)
|
rs12237048
|
0.45225
|
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=)
|
rs10966
|
0.45223
|
NM_001399.5(EDA):c.706+11_706+12del
|
rs10579679
|
0.45223
|
NM_033109.5(PNPT1):c.1074-19A>G
|
rs782637
|
0.45197
|
NM_015311.3(OBSL1):c.5309-4C>G
|
rs34490902
|
0.45189
|
NM_000137.4(FAH):c.82-13G>A
|
rs1370275
|
0.45099
|
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=)
|
rs2229265
|
0.45093
|
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)
|
rs2247870
|
0.45079
|
NM_000153.4(GALC):c.1671-15C>T
|
rs12432149
|
0.45011
|
NM_001277115.2(DNAH11):c.2454A>G (p.Ala818=)
|
rs4615458
|
0.44959
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val)
|
rs2285944
|
0.44667
|
NM_001277115.2(DNAH11):c.100G>T (p.Glu34Ter)
|
rs2285943
|
0.44658
|
NM_006949.4(STXBP2):c.1356+18A>G
|
rs889187
|
0.44557
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=)
|
rs13046639
|
0.44460
|
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=)
|
rs13052956
|
0.44458
|
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)
|
rs1050228
|
0.44445
|
NM_001202.6(BMP4):c.455T>C (p.Val152Ala)
|
rs17563
|
0.44424
|
NM_130837.3(OPA1):c.1035+32T>C
|
rs10451941
|
0.44363
|
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=)
|
rs10992063
|
0.44353
|
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=)
|
rs1805126
|
0.44288
|
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu)
|
rs2303067
|
0.44148
|
NM_000101.4(CYBA):c.203+8T>C
|
rs4782393
|
0.44118
|
NM_021098.3(CACNA1H):c.1107T>C (p.Ile369=)
|
rs8044363
|
0.44103
|
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=)
|
rs2277923
|
0.44081
|
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)
|
rs1057090
|
0.44044
|
NM_002880.4(RAF1):c.1669-36C>T
|
rs3729931
|
0.43953
|
NM_018714.3(COG1):c.543A>G (p.Ala181=)
|
rs11544800
|
0.43890
|
NM_018714.3(COG1):c.333G>A (p.Gln111=)
|
rs1052706
|
0.43844
|
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln)
|
rs59332477
|
0.43789
|
NM_000523.4(HOXD13):c.204G>A (p.Ala68=)
|
rs2518053
|
0.43768
|
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)
|
rs3803763
|
0.43727
|
NM_001614.5(ACTG1):c.363+13C>A
|
rs9910792
|
0.43644
|
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=)
|
rs3812953
|
0.43642
|
NM_014049.5(ACAD9):c.1279-7A>G
|
rs1683787
|
0.43618
|
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala)
|
rs2241880
|
0.43552
|
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)
|
rs2496425
|
0.43515
|
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=)
|
rs1131824
|
0.43499
|
NM_020751.3(COG6):c.94T>A (p.Cys32Ser)
|
rs3812883
|
0.43470
|
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=)
|
rs2070720
|
0.43390
|
NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala)
|
rs57285449
|
0.43349
|
NM_000492.4(CFTR):c.1408= (p.Val470=)
|
rs213950
|
0.43268
|
NM_015506.3(MMACHC):c.321G>A (p.Val107=)
|
rs2275276
|
0.43226
|
NM_006005.3(WFS1):c.1832G>A (p.Arg611His)
|
rs734312
|
0.43085
|
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=)
|
rs10747559
|
0.42978
|
NM_001305581.2(LRMDA):c.364T>C (p.Leu122=)
|
rs1898071
|
0.42882
|
NM_015884.4(MBTPS2):c.222A>G (p.Gln74=)
|
rs3213451
|
0.42789
|
NM_006306.4(SMC1A):c.-19C>T
|
rs1264011
|
0.42752
|
NM_017534.6(MYH2):c.324A>G (p.Glu108=)
|
rs12600539
|
0.42634
|
NM_000163.5(GHR):c.1630A>C (p.Ile544Leu)
|
rs6180
|
0.42616
|
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=)
|
rs3782357
|
0.42594
|
NM_183050.4(BCKDHB):c.197-11G>T
|
rs9448894
|
0.42545
|
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)
|
rs3818717
|
0.42485
|
NM_014141.6(CNTNAP2):c.551-11_551-10insG
|
rs35167289
|
0.42413
|
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=)
|
rs28407527
|
0.42407
|
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val)
|
rs1049874
|
0.42365
|
NM_182760.4(SUMF1):c.*10A>G
|
rs35083095
|
0.42363
|
NM_177924.5(ASAH1):c.303+7G>A
|
rs4921834
|
0.42285
|
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=)
|
rs2631365
|
0.42203
|
NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=)
|
rs12536928
|
0.42173
|
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)
|
rs3027875
|
0.42119
|
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)
|
rs309370
|
0.42071
|
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=)
|
rs10228334
|
0.42044
|
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=)
|
rs13245393
|
0.42036
|
NM_014324.6(AMACR):c.25G>A (p.Val9Met)
|
rs3195676
|
0.42007
|
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=)
|
rs7301328
|
0.41972
|
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp)
|
rs4244612
|
0.41942
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
NM_004183.4(BEST1):c.1608T>C (p.Thr536=)
|
rs1800009
|
0.41922
|
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile)
|
rs6964587
|
0.41920
|
NM_000900.5(MGP):c.304A>G (p.Thr102Ala)
|
rs4236
|
0.41895
|
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=)
|
rs2758735
|
0.41846
|
NM_153676.4(USH1C):c.105-16C>T
|
rs2041027
|
0.41822
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
NM_001034116.2(EIF2B4):c.1014-7A>G
|
rs2280737
|
0.41637
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=)
|
rs13295990
|
0.41484
|
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys)
|
rs9370096
|
0.41404
|
NM_001034116.2(EIF2B4):c.76-7G>A
|
rs7602534
|
0.41365
|
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=)
|
rs2955366
|
0.41355
|
NM_000443.4(ABCB4):c.504C>T (p.Asn168=)
|
rs1202283
|
0.41352
|
NM_000243.3(MEFV):c.1764G>A (p.Pro588=)
|
rs1231122
|
0.41230
|
NM_004260.4(RECQL4):c.3236+13C>T
|
rs4244610
|
0.41215
|
NM_000642.3(AGL):c.-10A>G
|
rs2307130
|
0.41188
|
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)
|
rs11205
|
0.41131
|
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)
|
rs9296669
|
0.41087
|
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile)
|
rs11107
|
0.40992
|
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=)
|
rs3170740
|
0.40860
|
NM_000512.5(GALNS):c.1431G>A (p.Glu477=)
|
rs2303271
|
0.40780
|
NM_005751.5(AKAP9):c.6945+8C>T
|
rs733957
|
0.40759
|
NM_201548.5(CERKL):c.156C>T (p.Phe52=)
|
rs1473295
|
0.40745
|
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser)
|
rs11592462
|
0.40744
|
NM_004320.6(ATP2A1):c.678T>C (p.Thr226=)
|
rs6565259
|
0.40633
|
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)
|
rs1061305
|
0.40617
|
NM_000287.4(PEX6):c.399G>T (p.Val133=)
|
rs9462858
|
0.40569
|
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)
|
rs1044397
|
0.40553
|
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)
|
rs1129187
|
0.40479
|
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)
|
rs1044396
|
0.40465
|
NM_144997.7(FLCN):c.397-14C>T
|
rs1736219
|
0.40309
|
NM_000251.3(MSH2):c.1661+12G>A
|
rs3732183
|
0.40290
|
NM_001377.3(DYNC2H1):c.10043-15G>T
|
rs648387
|
0.39966
|
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr)
|
rs2955365
|
0.39950
|
NM_014141.6(CNTNAP2):c.3381+17A>C
|
rs3779032
|
0.39925
|
NM_000153.4(GALC):c.1350C>T (p.Ser450=)
|
rs398076
|
0.39907
|
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=)
|
rs2270770
|
0.39870
|
NM_000203.5(IDUA):c.60G>A (p.Ala20=)
|
rs10902762
|
0.39819
|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)
|
rs1799859
|
0.39734
|
NM_000203.5(IDUA):c.24C>A (p.Ala8=)
|
rs11248061
|
0.39731
|
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)
|
rs7413162
|
0.39681
|
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=)
|
rs2912010
|
0.39666
|
NM_000337.6(SGCD):c.84T>C (p.Tyr28=)
|
rs1801193
|
0.39558
|
NM_001277115.2(DNAH11):c.4449T>C (p.Ile1483=)
|
rs56029521
|
0.39493
|
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=)
|
rs274558
|
0.39440
|
NM_003060.4(SLC22A5):c.824+13T>C
|
rs274557
|
0.39418
|
NM_006950.3(SYN1):c.510T>C (p.Asn170=)
|
rs1142636
|
0.39391
|
NM_000875.5(IGF1R):c.3129G>A (p.Glu1043=)
|
rs2229765
|
0.39376
|
NM_138694.4(PKHD1):c.7734-4T>C
|
rs7452724
|
0.39369
|
NM_002294.3(LAMP2):c.156A>T (p.Val52=)
|
rs12097
|
0.39324
|
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=)
|
rs9349603
|
0.39323
|
NM_201384.3(PLEC):c.1815+13A>G
|
rs10866916
|
0.39200
|
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=)
|
rs2241726
|
0.39054
|
NM_018418.5(SPATA7):c.220G>A (p.Val74Met)
|
rs3179969
|
0.39047
|
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)
|
rs5956583
|
0.38953
|
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=)
|
rs4433949
|
0.38748
|
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)
|
rs10941112
|
0.38660
|
NM_004260.4(RECQL4):c.1258+18G>A
|
rs4251689
|
0.38613
|
NM_005876.5(SPEG):c.9236A>G (p.His3079Arg)
|
rs12464085
|
0.38593
|
NM_005216.5(DDOST):c.646-16C>T
|
rs607254
|
0.38527
|
NM_194318.4(B3GLCT):c.347+20C>G
|
rs9542307
|
0.38493
|
NM_004385.5(VCAN):c.5477G>A (p.Arg1826His)
|
rs188703
|
0.38473
|
NM_182894.3(VSX2):c.471C>T (p.Ser157=)
|
rs35435463
|
0.38441
|
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His)
|
rs25640
|
0.38375
|
NM_025074.7(FRAS1):c.7110C>T (p.His2370=)
|
rs7660664
|
0.38360
|
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=)
|
rs13402180
|
0.38348
|
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=)
|
rs13414203
|
0.38341
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)
|
rs643788
|
0.38193
|
NM_000541.5(SAG):c.436-18G>C
|
rs2304774
|
0.38156
|
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=)
|
rs11083462
|
0.38131
|
NM_015386.3(COG4):c.646C>T (p.Leu216=)
|
rs3762171
|
0.38086
|
NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr)
|
rs2214326
|
0.38066
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_001853.4(COL9A3):c.1288-5T>C
|
rs741758
|
0.38028
|
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=)
|
rs730106
|
0.37791
|
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro)
|
rs1051152
|
0.37778
|
NM_000709.4(BCKDHA):c.995+26C>T
|
rs284653
|
0.37723
|
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=)
|
rs2287017
|
0.37676
|
NM_000795.4(DRD2):c.957C>T (p.Pro319=)
|
rs6277
|
0.37659
|
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala)
|
rs2287015
|
0.37653
|
NM_004260.4(RECQL4):c.3393+8C>T
|
rs756627
|
0.37589
|
NM_030665.4(RAI1):c.837_838del (p.Gln280fs)
|
rs35068024
|
0.37587
|
NM_004260.4(RECQL4):c.1621-15C>T
|
rs4244611
|
0.37577
|
NM_001369.3(DNAH5):c.7609+19C>T
|
rs35732567
|
0.37414
|
NM_153717.3(EVC):c.1099-19T>C
|
rs899691
|
0.37351
|
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=)
|
rs2912016
|
0.37333
|
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=)
|
rs8766
|
0.37317
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_000057.4(BLM):c.2555+7T>C
|
rs3815003
|
0.37072
|
NM_001927.4(DES):c.1014G>C (p.Leu338=)
|
rs12920
|
0.37027
|
NM_130384.3(ATRIP):c.*1632=
|
rs11797
|
0.37009
|
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)
|
rs2252755
|
0.36980
|
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=)
|
rs3747992
|
0.36928
|
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)
|
rs1131296
|
0.36920
|
NM_004006.3(DMD):c.5234G>A (p.Arg1745His)
|
rs1801187
|
0.36912
|
NM_031220.4(PITPNM3):c.1625-9G>A
|
rs11654175
|
0.36838
|
NM_001927.4(DES):c.828C>T (p.Asp276=)
|
rs1058261
|
0.36815
|
NM_001927.4(DES):c.1104G>A (p.Ala368=)
|
rs1058284
|
0.36806
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.36733
|
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln)
|
rs3740129
|
0.36709
|
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln)
|
rs4251691
|
0.36660
|
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)
|
rs2064317
|
0.36637
|
NM_022437.3(ABCG8):c.-19T>G
|
rs3806471
|
0.36621
|
NM_005591.4(MRE11):c.1225+19T>C
|
rs641936
|
0.36577
|
G6PD:c.1455-13T>C
|
rs2071429
|
0.36538
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.36505
|
NM_024105.4(ALG12):c.885A>G (p.Ala295=)
|
rs8135963
|
0.36465
|
NM_000277.3(PAH):c.969+43G>T
|
rs1522306
|
0.36369
|
NM_022455.5(NSD1):c.1482C>T (p.Cys494=)
|
rs1363405
|
0.36334
|
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly)
|
rs10012
|
0.36324
|
NM_207352.4(CYP4V2):c.802-7C>T
|
rs3817184
|
0.36293
|
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu)
|
rs9515185
|
0.36168
|
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp)
|
rs1875845
|
0.36167
|
NM_024809.5(TCTN2):c.1393+7C>T
|
rs7298440
|
0.36136
|
NM_000287.4(PEX6):c.883-3T>C
|
rs9986447
|
0.36088
|
NM_004260.4(RECQL4):c.738C>T (p.Ser246=)
|
rs4244613
|
0.36043
|
NM_000410.4(HFE):c.340+4T>C
|
rs2071303
|
0.35994
|
NM_006302.3(MOGS):c.877C>T (p.Pro293Ser)
|
rs2268416
|
0.35953
|
NM_194318.4(B3GLCT):c.347+4C>T
|
rs9564692
|
0.35942
|
NM_002435.3(MPI):c.345+15G>A
|
rs11638130
|
0.35866
|
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=)
|
rs4894029
|
0.35796
|
NM_183050.4(BCKDHB):c.197-25A>G
|
rs9448893
|
0.35785
|
NM_001235.5(SERPINH1):c.363C>G (p.Ser121=)
|
rs650241
|
0.35781
|
NM_033337.3(CAV3):c.99C>T (p.Asn33=)
|
rs1008642
|
0.35756
|
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)
|
rs11649804
|
0.35747
|
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=)
|
rs699374
|
0.35704
|
NM_015311.3(OBSL1):c.580C>T (p.Leu194=)
|
rs1061399
|
0.35689
|
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=)
|
rs3813250
|
0.35546
|
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=)
|
rs2366751
|
0.35531
|
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val)
|
rs3829746
|
0.35516
|
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr)
|
rs2760118
|
0.35507
|
NM_017950.4(CCDC40):c.*15T>C
|
rs2304853
|
0.35502
|
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
NM_001039141.3(TRIOBP):c.3885C>T (p.Ser1295=)
|
rs739137
|
0.35439
|
NM_001035.3(RYR2):c.11963-11T>C
|
rs790889
|
0.35417
|
NM_018055.5(NODAL):c.193+12C>T
|
rs10999338
|
0.35409
|
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
|
rs9808377
|
0.35383
|
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)
|
rs56407805
|
0.35335
|
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)
|
rs10949483
|
0.35277
|
NM_001369.3(DNAH5):c.9721-12A>T
|
rs12655133
|
0.35219
|
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser)
|
rs1056827
|
0.35167
|
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=)
|
rs2229850
|
0.35164
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
NM_001267550.2(TTN):c.97795+6G>T
|
rs3731750
|
0.35139
|
NM_001848.3(COL6A1):c.1462-36A>G
|
rs2276255
|
0.35129
|
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)
|
rs2340917
|
0.35127
|
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=)
|
rs555164
|
0.35094
|
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile)
|
rs2042996
|
0.34979
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
NM_000814.6(GABRB3):c.1080+15A>G
|
rs3751582
|
0.34839
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
NM_005343.4(HRAS):c.81T>C (p.His27=)
|
rs12628
|
0.34645
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)
|
rs4148211
|
0.34608
|
NM_001848.3(COL6A1):c.1675-55C>T
|
rs4819179
|
0.34598
|
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)
|
rs1133330
|
0.34583
|
NM_006017.3(PROM1):c.2374-6T>C
|
rs6449209
|
0.34571
|
NM_001159773.2(CANT1):c.159T>C (p.Ala53=)
|
rs8077024
|
0.34524
|
NM_002778.4(PSAP):c.1351-14A>G
|
rs4747203
|
0.34512
|
NM_000046.5(ARSB):c.1072G>A (p.Val358Met)
|
rs1065757
|
0.34419
|
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=)
|
rs6520618
|
0.34271
|
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly)
|
rs2955367
|
0.34123
|
NM_000245.4(MET):c.4092G>A (p.Pro1364=)
|
rs41737
|
0.34093
|
NM_000245.4(MET):c.4017G>A (p.Ala1339=)
|
rs2023748
|
0.34017
|
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)
|
rs2797234
|
0.33929
|
NM_006302.3(MOGS):c.715G>A (p.Asp239Asn)
|
rs1063588
|
0.33895
|
NM_001035.3(RYR2):c.464-8A>C
|
rs10925391
|
0.33866
|
NM_201253.3(CRB1):c.71-12A>T
|
rs12042179
|
0.33853
|
NM_000245.4(MET):c.3858C>T (p.Asp1286=)
|
rs41736
|
0.33828
|
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=)
|
rs874204
|
0.33827
|
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=)
|
rs874203
|
0.33819
|
NM_000535.7(PMS2):c.705+17A>G
|
rs62456182
|
0.33782
|
NM_001184.4(ATR):c.1815T>C (p.Asp605=)
|
rs2227929
|
0.33689
|
NM_000169.3(GLA):c.1000-22C>T
|
rs2071228
|
0.33579
|
NM_006363.6(SEC23B):c.1744-20T>A
|
rs3736775
|
0.33572
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=)
|
rs9806806
|
0.33435
|
NM_000096.4(CP):c.2662-12T>C
|
rs16861582
|
0.33387
|
NM_001457.4(FLNB):c.3469G>A (p.Asp1157Asn)
|
rs1131356
|
0.33365
|
NM_024306.5(FA2H):c.229C>T (p.Leu77=)
|
rs929881
|
0.33281
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
NM_004006.3(DMD):c.8027+11C>T
|
rs2270672
|
0.33026
|
NM_015404.4(WHRN):c.117G>A (p.Val39=)
|
rs2297815
|
0.33019
|
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)
|
rs2293869
|
0.33006
|
NM_001848.3(COL6A1):c.739-51C>T
|
rs62215498
|
0.32957
|
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)
|
rs1053312
|
0.32867
|
NM_002693.3(POLG):c.3105-11T>C
|
rs2302084
|
0.32855
|
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln)
|
rs3812956
|
0.32763
|
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)
|
rs6347
|
0.32752
|
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=)
|
rs1130529
|
0.32745
|
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val)
|
rs843358
|
0.32719
|
NM_006019.4(TCIRG1):c.417+11A>G
|
rs3808974
|
0.32688
|
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)
|
rs1053315
|
0.32659
|
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)
|
rs197922
|
0.32616
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
NM_001849.4(COL6A2):c.2184G>A (p.Val728=)
|
rs2839114
|
0.32526
|
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu)
|
rs4916685
|
0.32486
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_001025389.2(AMPD3):c.1689T>C (p.Tyr563=)
|
rs3741041
|
0.32346
|
NM_000179.3(MSH6):c.3438+14A>T
|
rs2020911
|
0.32279
|
NM_006031.6(PCNT):c.721-7G>A
|
rs2839217
|
0.32249
|
NM_004006.3(DMD):c.2168+13T>C
|
rs228373
|
0.32216
|
NM_003630.3(PEX3):c.332-20C>G
|
rs3762000
|
0.32211
|
NM_000540.3(RYR1):c.8816+17T>A
|
rs2915959
|
0.32203
|
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)
|
rs1044498
|
0.32168
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
NM_022095.4(ZNF335):c.642C>T (p.Ser214=)
|
rs3848719
|
0.32130
|
NM_001353108.3(CEP63):c.1067+7A>G
|
rs11927068
|
0.32111
|
NM_000202.8(IDS):c.438C>T (p.Thr146=)
|
rs1141608
|
0.32051
|
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=)
|
rs3747563
|
0.32044
|
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=)
|
rs3737438
|
0.32038
|
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=)
|
rs1053320
|
0.32005
|
NM_024426.6(WT1):c.213G>T (p.Pro71=)
|
rs2234582
|
0.31689
|
NM_198904.4(GABRG2):c.588C>T (p.Asn196=)
|
rs211037
|
0.31659
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_080680.3(COL11A2):c.877-4T>A
|
rs1799907
|
0.31476
|
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu)
|
rs929387
|
0.31467
|
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)
|
rs1191778
|
0.31383
|
NM_003383.5(VLDLR):c.82+7G>A
|
rs2219143
|
0.31376
|
NM_001848.3(COL6A1):c.2434+20G>A
|
rs2236486
|
0.31361
|
NM_052845.4(MMAB):c.57C>A (p.Arg19=)
|
rs10774774
|
0.31358
|
NM_052845.4(MMAB):c.56G>A (p.Arg19His)
|
rs10774775
|
0.31347
|
NM_020436.5(SALL4):c.1860A>G (p.Thr620=)
|
rs6021437
|
0.31314
|
NM_001848.3(COL6A1):c.1822+42G>C
|
rs13053065
|
0.31288
|
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
|
rs6647
|
0.31278
|
NM_001267550.2(TTN):c.23099-3T>C
|
rs2562830
|
0.31174
|
NM_000231.3(SGCG):c.*254G>A
|
rs3751371
|
0.31172
|
NM_006765.4(TUSC3):c.309-6T>C
|
rs1035972
|
0.31124
|
NM_001918.5(DBT):c.1210-9A>T
|
rs34229137
|
0.31080
|
NM_000199.5(SGSH):c.1367G>A (p.Arg456His)
|
rs7503034
|
0.31021
|
NM_025074.7(FRAS1):c.5366+13T>G
|
rs2170899
|
0.31001
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_032382.5(COG8):c.42A>G (p.Thr14=)
|
rs11542583
|
0.30947
|
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn)
|
rs4904448
|
0.30943
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_000541.5(SAG):c.1207G>A (p.Val403Ile)
|
rs1046974
|
0.30851
|
NM_000159.4(GCDH):c.1173G>T (p.Gly391=)
|
rs1060218
|
0.30844
|
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=)
|
rs2071313
|
0.30843
|
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
|
rs1799949
|
0.30810
|
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)
|
rs1054486
|
0.30800
|
NM_004333.6(BRAF):c.1929A>G (p.Gly643=)
|
rs9648696
|
0.30796
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_014112.5(TRPS1):c.-9dup
|
rs35329862
|
0.30691
|
NM_022132.5(MCCC2):c.904-12A>G
|
rs277984
|
0.30658
|
NM_001297.5(CNGB1):c.1958-14A>C
|
rs3991715
|
0.30656
|
NM_000016.6(ACADM):c.216+10T>C
|
rs2275378
|
0.30596
|
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)
|
rs765525
|
0.30589
|
NM_020223.4(FAM20C):c.885A>G (p.Thr295=)
|
rs141256626
|
0.30568
|
NM_201384.3(PLEC):c.*10C>T
|
rs1065837
|
0.30524
|
NM_001360.3(DHCR7):c.626+15G>A
|
rs736894
|
0.30458
|
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=)
|
rs2878749
|
0.30404
|
NM_002485.5(NBN):c.553G>C (p.Glu185Gln)
|
rs1805794
|
0.30329
|
NM_007294.4(BRCA1):c.5152+66G>A
|
rs3092994
|
0.30314
|
NM_014425.5(INVS):c.1235-5T>C
|
rs2245216
|
0.30271
|
NM_001492.6(GDF1):c.353C>T (p.Ala118Val)
|
rs4808863
|
0.30267
|
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=)
|
rs10200693
|
0.30236
|
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=)
|
rs35916068
|
0.30160
|
NM_012186.3(FOXE3):c.510C>T (p.Ala170=)
|
rs34082359
|
0.30139
|
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)
|
rs16869042
|
0.30112
|
NM_000255.4(MMUT):c.1595G>A (p.Arg532His)
|
rs1141321
|
0.30110
|
NM_002485.5(NBN):c.1124+18C>T
|
rs2234744
|
0.30095
|
NM_201400.4(EEF2KMT):c.*733_*734dup
|
rs59332251
|
0.30086
|
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=)
|
rs2857829
|
0.29968
|
NM_201384.3(PLEC):c.4045-4A>G
|
rs7002152
|
0.29962
|
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His)
|
rs6558407
|
0.29956
|
NM_201384.3(PLEC):c.3757-6A>G
|
rs11136333
|
0.29944
|
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=)
|
rs7016416
|
0.29943
|
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=)
|
rs3135109
|
0.29936
|
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln)
|
rs11136334
|
0.29922
|
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=)
|
rs55836855
|
0.29922
|
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=)
|
rs17038714
|
0.29915
|
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=)
|
rs11778026
|
0.29910
|
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val)
|
rs7002002
|
0.29901
|
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=)
|
rs11777402
|
0.29844
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=)
|
rs2562836
|
0.29823
|
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu)
|
rs3747295
|
0.29823
|
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=)
|
rs56117011
|
0.29823
|
NM_000153.4(GALC):c.984G>A (p.Gln328=)
|
rs12888666
|
0.29819
|
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=)
|
rs1140522
|
0.29794
|
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=)
|
rs6984820
|
0.29792
|
NM_001848.3(COL6A1):c.2434+55G>A
|
rs2236487
|
0.29790
|
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)
|
rs2252748
|
0.29787
|
NM_138694.4(PKHD1):c.234C>T (p.Asp78=)
|
rs9474143
|
0.29769
|
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=)
|
rs2562839
|
0.29759
|
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu)
|
rs61734410
|
0.29755
|
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)
|
rs2229519
|
0.29724
|
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg)
|
rs7782939
|
0.29616
|
NM_203486.3(DLL3):c.515T>G (p.Phe172Cys)
|
rs8107127
|
0.29570
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=)
|
rs3747282
|
0.29345
|
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser)
|
rs1051340
|
0.29281
|
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=)
|
rs11556200
|
0.29252
|
NM_201384.3(PLEC):c.1095T>C (p.Asp365=)
|
rs11783799
|
0.29245
|
NM_012301.4(MAGI2):c.4329C>G (p.Pro1443=)
|
rs13438302
|
0.29174
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=)
|
rs55646585
|
0.29155
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)
|
rs6126344
|
0.29053
|
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)
|
rs4685076
|
0.29043
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser)
|
rs61741379
|
0.28900
|
NM_021120.4(DLG3):c.1145+586G>C
|
rs12850410
|
0.28867
|
NM_006214.4(PHYH):c.636A>G (p.Thr212=)
|
rs473407
|
0.28866
|
NM_000071.3(CBS):c.699C>T (p.Tyr233=)
|
rs234706
|
0.28613
|
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=)
|
rs34373805
|
0.28610
|
NM_003839.4(TNFRSF11A):c.-9T>C
|
rs1805033
|
0.28610
|
NM_005122.5(NR1I3):c.540C>T (p.Pro180=)
|
rs2307424
|
0.28602
|
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565
|
0.28594
|
NM_147127.5(EVC2):c.3507C>T (p.His1169=)
|
rs12511039
|
0.28547
|
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln)
|
rs4747194
|
0.28536
|
NM_001848.3(COL6A1):c.1957-11C>T
|
rs8132521
|
0.28523
|
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys)
|
rs10466026
|
0.28442
|
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)
|
rs1801406
|
0.28273
|
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser)
|
rs869457
|
0.28273
|
NM_000104.4(CYP1B1):c.-1-12C>T
|
rs2617266
|
0.28114
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
NM_001111.5(ADAR):c.15+10G>T
|
rs58655370
|
0.27999
|
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=)
|
rs114505309
|
0.27986
|
NM_001244008.2(KIF1A):c.864+16C>T
|
rs2288750
|
0.27959
|
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)
|
rs3741056
|
0.27945
|
NM_147127.5(EVC2):c.1437A>G (p.Glu479=)
|
rs13131655
|
0.27893
|
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)
|
rs1801555
|
0.27862
|
NM_012301.4(MAGI2):c.4269G>C (p.Pro1423=)
|
rs2960452
|
0.27858
|
NM_020822.3(KCNT1):c.254+20T>C
|
rs2385007
|
0.27844
|
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu)
|
rs4747195
|
0.27841
|
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27837
|
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)
|
rs1801184
|
0.27758
|
NM_032575.3(GLIS2):c.1311A>C (p.Ala437=)
|
rs3810817
|
0.27719
|
NM_000322.5(PRPH2):c.*13C>T
|
rs361524
|
0.27666
|
NM_000360.4(TH):c.977+8C>G
|
rs12419447
|
0.27597
|
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys)
|
rs10062026
|
0.27574
|
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=)
|
rs3192177
|
0.27555
|
NM_138694.4(PKHD1):c.527+19T>C
|
rs9474140
|
0.27509
|
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)
|
rs1043424
|
0.27338
|
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=)
|
rs730600
|
0.27319
|
NM_000719.7(CACNA1C):c.617+19T>C
|
rs1544516
|
0.27158
|
NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser)
|
rs9411313
|
0.27092
|
NM_206965.2(FTCD):c.54+12G>A
|
rs2277820
|
0.27049
|
NM_000046.5(ARSB):c.1191G>A (p.Pro397=)
|
rs25413
|
0.27041
|
NM_000719.7(CACNA1C):c.617+17G>A
|
rs1544515
|
0.27035
|
NM_018389.5(SLC35C1):c.-3A>G
|
rs3808976
|
0.27016
|
NM_001100.4(ACTA1):c.130-5T>C
|
rs11803533
|
0.26938
|
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val)
|
rs2275260
|
0.26894
|
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=)
|
rs191294997
|
0.26852
|
NM_000334.4(SCN4A):c.3318+12C>A
|
rs13341114
|
0.26769
|
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)
|
rs3219489
|
0.26720
|
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=)
|
rs1027199
|
0.26612
|
NM_001009944.3(PKD1):c.8949-17A>G
|
rs9928278
|
0.26586
|
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321
|
0.26575
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_001164508.2(NEB):c.16705-18C>T
|
rs61254943
|
0.26527
|
NM_004608.4(TBX6):c.1227G>A (p.Pro409=)
|
rs2289292
|
0.26284
|
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu)
|
rs2230792
|
0.26279
|
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala)
|
rs2839227
|
0.26258
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)
|
rs2464196
|
0.26206
|
NM_024596.5(MCPH1):c.2215-15C>G
|
rs11137040
|
0.26204
|
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)
|
rs1057091
|
0.26146
|
NM_207122.2(EXT2):c.1080-18T>A
|
rs11037882
|
0.26140
|
NM_001349206.2(LPIN1):c.192+17C>T
|
rs10209969
|
0.26135
|
NM_000019.4(ACAT1):c.-9T>A
|
rs3741055
|
0.26111
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)
|
rs3112831
|
0.25928
|
NM_005422.4(TECTA):c.2256C>T (p.Ile752=)
|
rs10502247
|
0.25910
|
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu)
|
rs10957393
|
0.25907
|
NM_000552.5(VWF):c.2880G>A (p.Arg960=)
|
rs1800380
|
0.25897
|
NM_000195.5(HPS1):c.636C>T (p.Leu212=)
|
rs1801287
|
0.25851
|
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=)
|
rs3741622
|
0.25778
|
NM_004369.4(COL6A3):c.9494-26C>T
|
rs13032404
|
0.25759
|
NM_001429.4(EP300):c.4618-18C>T
|
rs2076578
|
0.25729
|
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His)
|
rs3816665
|
0.25723
|
NM_001194998.2(CEP152):c.3466+8G>C
|
rs2306187
|
0.25704
|
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys)
|
rs1800497
|
0.25693
|
NM_001048166.1(STIL):c.2954A>G (p.His985Arg)
|
rs13376679
|
0.25624
|
NM_001330078.2(NRXN1):c.3364+20T>C
|
rs3213756
|
0.25608
|
NM_000052.7(ATP7A):c.2782-29C>A
|
rs113968994
|
0.25602
|
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp)
|
rs2275155
|
0.25552
|
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)
|
rs3748361
|
0.25511
|
NM_000426.4(LAMA2):c.3411+13G>A
|
rs3798663
|
0.25503
|
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=)
|
rs2646254
|
0.25503
|
NM_198525.3(KIF7):c.3517+6C>T
|
rs74251725
|
0.25419
|
NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu)
|
rs751557
|
0.25404
|
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)
|
rs1051338
|
0.25399
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_005876.5(SPEG):c.6566C>T (p.Pro2189Leu)
|
rs10755037
|
0.25298
|
NM_000089.4(COL1A2):c.246T>C (p.Asp82=)
|
rs1800222
|
0.25224
|
NM_000138.5(FBN1):c.1875T>C (p.Asn625=)
|
rs25458
|
0.25074
|
NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro)
|
rs414352
|
0.25064
|
NM_000545.8(HNF1A):c.864G>C (p.Gly288=)
|
rs56348580
|
0.25042
|
NM_000512.5(GALNS):c.708C>T (p.His236=)
|
rs1064315
|
0.24874
|
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)
|
rs2230488
|
0.24795
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
NM_002653.5(PITX1):c.896G>C (p.Gly299Ala)
|
rs479632
|
0.24653
|
NM_001004334.4(GPR179):c.909= (p.Val303=)
|
rs9894059
|
0.24635
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_006269.2(RP1):c.2615G>A (p.Arg872His)
|
rs444772
|
0.24558
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
NM_031433.4(MFRP):c.406G>A (p.Val136Met)
|
rs3814762
|
0.24523
|
NM_001429.4(EP300):c.4452+20C>T
|
rs6002271
|
0.24366
|
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=)
|
rs1254392
|
0.24353
|
NM_015046.7(SETX):c.5374+16C>T
|
rs2296872
|
0.24325
|
NM_015046.7(SETX):c.5781+12dup
|
rs3831154
|
0.24271
|
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707
|
0.24238
|
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys)
|
rs12512164
|
0.24213
|
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)
|
rs546382
|
0.24174
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
NM_152419.3(HGSNAT):c.1377+20G>A
|
rs17603428
|
0.24049
|
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=)
|
rs17720698
|
0.24032
|
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met)
|
rs3731746
|
0.24029
|
NM_182943.3(PLOD2):c.1500+12A>G
|
rs73010484
|
0.23989
|
NM_000405.5(GM2A):c.582A>G (p.Ter194=)
|
rs1048723
|
0.23979
|
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
|
rs16868972
|
0.23938
|
NM_133261.3(GIPC3):c.276G>A (p.Leu92=)
|
rs8113232
|
0.23935
|
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu)
|
rs6234
|
0.23916
|
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile)
|
rs2303838
|
0.23912
|
NM_152594.3(SPRED1):c.424-18G>A
|
rs7179118
|
0.23890
|
NM_033337.3(CAV3):c.123T>C (p.Phe41=)
|
rs13087941
|
0.23875
|
NM_000179.3(MSH6):c.540T>C (p.Asp180=)
|
rs1800935
|
0.23857
|
NM_024105.4(ALG12):c.664+9G>C
|
rs9616368
|
0.23841
|
NM_024105.4(ALG12):c.664+12A>G
|
rs9616204
|
0.23839
|
NM_000016.6(ACADM):c.1161A>G (p.Val387=)
|
rs1061337
|
0.23824
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro)
|
rs1805044
|
0.23760
|
NM_024757.5(EHMT1):c.444T>C (p.Pro148=)
|
rs3812497
|
0.23632
|
NM_000127.3(EXT1):c.1065C>T (p.Cys355=)
|
rs11546829
|
0.23625
|
NM_000152.5(GAA):c.2133A>G (p.Thr711=)
|
rs1800310
|
0.23591
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=)
|
rs1129647
|
0.23538
|
NM_031433.4(MFRP):c.492C>T (p.Tyr164=)
|
rs36015759
|
0.23503
|
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=)
|
rs2645774
|
0.23421
|
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)
|
rs1800136
|
0.23407
|
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=)
|
rs12464787
|
0.23390
|
NM_001277115.2(DNAH11):c.5621+11A>T
|
rs59447021
|
0.23311
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_015404.4(WHRN):c.1627-12G>A
|
rs2274160
|
0.23283
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
NM_178138.6(LHX3):c.79+1975G>A
|
rs2274116
|
0.23265
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_002458.3(MUC5B):c.4797T>C (p.Ser1599=)
|
rs2037089
|
0.23114
|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)
|
rs1799977
|
0.23048
|
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825
|
0.22980
|
NM_201548.5(CERKL):c.239-12T>A
|
rs6433923
|
0.22971
|
NM_000284.4(PDHA1):c.760-15C>A
|
rs7058209
|
0.22904
|
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)
|
rs10825269
|
0.22813
|
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr)
|
rs6235
|
0.22796
|
NM_001291415.2(KDM6A):c.4161+14T>C
|
rs5952682
|
0.22765
|
NM_004817.4(TJP2):c.2715C>T (p.Thr905=)
|
rs2282336
|
0.22650
|
NM_004817.4(TJP2):c.2727G>A (p.Ala909=)
|
rs2095876
|
0.22643
|
NM_000133.4(F9):c.580A>G (p.Thr194Ala)
|
rs6048
|
0.22614
|
NM_006261.5(PROP1):c.424G>A (p.Ala142Thr)
|
rs1800197
|
0.22589
|
NM_172364.5(CACNA2D4):c.1515A>G (p.Thr505=)
|
rs60945277
|
0.22589
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22492
|
NM_020433.5(JPH2):c.1728C>G (p.Pro576=)
|
rs74352869
|
0.22485
|
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser)
|
rs35940413
|
0.22440
|
NM_001429.4(EP300):c.2989A>G (p.Ile997Val)
|
rs20551
|
0.22427
|
NM_005120.3(MED12):c.736-8A>C
|
rs62609586
|
0.22423
|
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)
|
rs17612126
|
0.22387
|
NM_152415.3(VPS37A):c.202T>C (p.Leu68=)
|
rs11555738
|
0.22377
|
NM_000203.5(IDUA):c.352C>T (p.Leu118=)
|
rs3755954
|
0.22368
|
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902
|
0.22262
|
NM_000443.4(ABCB4):c.711A>T (p.Ile237=)
|
rs2109505
|
0.22260
|
NM_001382430.1(AKT1):c.726G>A (p.Glu242=)
|
rs1130233
|
0.22241
|
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)
|
rs10240503
|
0.22240
|
NM_004183.4(BEST1):c.1410G>A (p.Thr470=)
|
rs149698
|
0.22214
|
NM_002471.4(MYH6):c.411G>A (p.Glu137=)
|
rs2277474
|
0.22054
|
NM_006922.4(SCN3A):c.1441C>T (p.Leu481=)
|
rs16850131
|
0.21998
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
NM_000440.3(PDE6A):c.331A>C (p.Arg111=)
|
rs2277925
|
0.21963
|
NM_000276.4(OCRL):c.199+16C>G
|
rs5977104
|
0.21795
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_000255.4(MMUT):c.1676+77A>C
|
rs9381786
|
0.21722
|
NM_001004311.3(FIGLA):c.*5T>A
|
rs56135050
|
0.21715
|
NM_000548.5(TSC2):c.2546-12C>T
|
rs13331451
|
0.21707
|
NM_133261.3(GIPC3):c.593-6C>T
|
rs10426399
|
0.21701
|
NM_001004311.3(FIGLA):c.*7A>G
|
rs56316086
|
0.21698
|
NM_014244.5(ADAMTS2):c.2959-17C>T
|
rs2303641
|
0.21622
|
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)
|
rs1385129
|
0.21537
|
NM_000195.5(HPS1):c.1599-15A>G
|
rs2296435
|
0.21496
|
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr)
|
rs12463674
|
0.21485
|
NM_001034853.2(RPGR):c.29-15G>A
|
rs6651585
|
0.21451
|
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)
|
rs446227
|
0.21425
|
NM_000262.3(NAGA):c.598-15C>T
|
rs2854827
|
0.21339
|
NM_000404.4(GLB1):c.1233+8T>C
|
rs13093698
|
0.21250
|
NM_198253.3(TERT):c.915G>A (p.Ala305=)
|
rs2736098
|
0.21206
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)
|
rs6720173
|
0.21159
|
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln)
|
rs1800275
|
0.21153
|
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
NM_002653.5(PITX1):c.418C>A (p.Arg140=)
|
rs1131611
|
0.20977
|
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)
|
rs224222
|
0.20976
|
NM_000195.5(HPS1):c.1397+7G>C
|
rs2296432
|
0.20947
|
NM_000195.5(HPS1):c.1397+8G>T
|
rs2296433
|
0.20935
|
NM_000512.5(GALNS):c.634-19G>A
|
rs12934499
|
0.20916
|
NM_001134363.3(RBM20):c.90G>A (p.Arg30=)
|
rs35141404
|
0.20903
|
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)
|
rs11556045
|
0.20835
|
NM_001100.4(ACTA1):c.809-35del
|
rs59228224
|
0.20823
|
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val)
|
rs57326399
|
0.20797
|
NM_020751.3(COG6):c.1074+18T>C
|
rs9548882
|
0.20795
|
NM_004304.5(ALK):c.4165-6C>T
|
rs17007646
|
0.20768
|
NM_006269.2(RP1):c.5175A>G (p.Gln1725=)
|
rs441800
|
0.20759
|
NM_017636.4(TRPM4):c.-12G>A
|
rs3760663
|
0.20754
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=)
|
rs216008
|
0.20673
|
NM_001100.4(ACTA1):c.130-10G>C
|
rs41271481
|
0.20670
|
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp)
|
rs9684786
|
0.20663
|
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)
|
rs2236654
|
0.20662
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20641
|
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg)
|
rs34967813
|
0.20632
|
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)
|
rs8179065
|
0.20556
|
NM_001145809.2(MYH14):c.3680+9C>T
|
rs76579307
|
0.20534
|
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=)
|
rs12622093
|
0.20507
|
NM_006343.3(MERTK):c.353G>A (p.Ser118Asn)
|
rs13027171
|
0.20460
|
NM_000142.5(FGFR3):c.882T>C (p.Asn294=)
|
rs2234909
|
0.20412
|
NM_006017.3(PROM1):c.2281-6C>G
|
rs3815344
|
0.20394
|
NM_020975.6(RET):c.2608-24G>A
|
rs2472737
|
0.20380
|
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)
|
rs520805
|
0.20376
|
NM_014141.6(CNTNAP2):c.1777+10A>G
|
rs2286127
|
0.20355
|
NM_001146079.2(CLDN14):c.687G>A (p.Thr229=)
|
rs219780
|
0.20318
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_000208.4(INSR):c.3255C>T (p.His1085=)
|
rs1799817
|
0.20288
|
NM_014244.5(ADAMTS2):c.1238+18G>A
|
rs2278222
|
0.20277
|
NM_021098.3(CACNA1H):c.1991T>C (p.Val664Ala)
|
rs4984636
|
0.20272
|
NM_139343.3(BIN1):c.858-12C>A
|
rs6720741
|
0.20254
|
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=)
|
rs2278221
|
0.20236
|
NM_000152.5(GAA):c.1581G>A (p.Arg527=)
|
rs1042396
|
0.20175
|
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu)
|
rs3214045
|
0.20167
|
NM_000430.4(PAFAH1B1):c.*17C>T
|
rs6628
|
0.20094
|
NM_001844.5(COL2A1):c.504C>A (p.Gly168=)
|
rs3737548
|
0.20086
|
NM_000368.5(TSC1):c.2392-35T>C
|
rs11243931
|
0.20073
|
NM_005199.5(CHRNG):c.507-13C>T
|
rs2853462
|
0.20012
|
NM_001037.5(SCN1B):c.40+15G>T
|
rs72556351
|
0.19938
|
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)
|
rs3776070
|
0.19906
|
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=)
|
rs10762480
|
0.19882
|
NM_000321.3(RB1):c.2664-10T>A
|
rs3092904
|
0.19833
|
NM_001374385.1(ATP8B1):c.3532-15C>T
|
rs12958967
|
0.19806
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)
|
rs1050239
|
0.19762
|
NM_000540.3(RYR1):c.2979C>T (p.Asn993=)
|
rs2228070
|
0.19758
|
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=)
|
rs4647100
|
0.19656
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_003477.3(PDHX):c.108T>C (p.Ser36=)
|
rs1049307
|
0.19592
|
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)
|
rs1049306
|
0.19588
|
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr)
|
rs4978584
|
0.19569
|
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)
|
rs2228527
|
0.19565
|
NM_004985.5(KRAS):c.519T>C (p.Asp173=)
|
rs1137282
|
0.19563
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_001008212.2(OPTN):c.102G>A (p.Thr34=)
|
rs2234968
|
0.19474
|
NM_001130987.2(DYSF):c.6321+15C>T
|
rs2559082
|
0.19470
|
NM_000744.7(CHRNA4):c.1758+14A>G
|
rs3827020
|
0.19437
|
NM_000027.4(AGA):c.281+13T>G
|
rs34241758
|
0.19395
|
NM_004565.3(PEX14):c.384+14A>T
|
rs284238
|
0.19360
|
NM_005334.3(HCFC1):c.713-13C>T
|
rs59607260
|
0.19358
|
NM_001414.4(EIF2B1):c.370-20A>G
|
rs7298287
|
0.19278
|
NM_207346.3(TSEN54):c.114T>G (p.His38Gln)
|
rs8079373
|
0.19277
|
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)
|
rs2071133
|
0.19260
|
NM_001378609.3(OTOGL):c.3451-20T>A
|
rs11114396
|
0.19252
|
NM_004369.4(COL6A3):c.7092+26G>A
|
rs2270656
|
0.19247
|
NM_000540.3(RYR1):c.4161-6T>C
|
rs55845760
|
0.19230
|
NM_032634.4(PIGO):c.2004G>A (p.Leu668=)
|
rs10814196
|
0.19210
|
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)
|
rs1953337
|
0.19198
|
NM_005802.5(TOPORS):c.2991T>C (p.Asp997=)
|
rs12348918
|
0.19195
|
NM_016239.4(MYO15A):c.9486C>T (p.Asp3162=)
|
rs8077577
|
0.19129
|
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)
|
rs2228526
|
0.19072
|
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)
|
rs13135445
|
0.19015
|
NM_001167.4(XIAP):c.*12A>G
|
rs28382740
|
0.18976
|
NM_001130987.2(DYSF):c.3086-17G>A
|
rs3764971
|
0.18932
|
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)
|
rs2228529
|
0.18890
|
NM_006859.4(LIAS):c.45+15G>A
|
rs2687959
|
0.18886
|
NM_000440.3(PDE6A):c.465C>T (p.Asn155=)
|
rs2277926
|
0.18879
|
NM_002180.3(IGHMBP2):c.-2C>T
|
rs4930624
|
0.18778
|
NM_000478.6(ALPL):c.876A>G (p.Pro292=)
|
rs3200255
|
0.18763
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val)
|
rs1801159
|
0.18679
|
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
|
rs11558179
|
0.18595
|
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=)
|
rs6850908
|
0.18472
|
NM_000478.6(ALPL):c.863-12C>G
|
rs75829132
|
0.18464
|
NM_170784.3(MKKS):c.117C>T (p.Pro39=)
|
rs16991547
|
0.18435
|
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=)
|
rs3816884
|
0.18399
|
NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile)
|
rs2273697
|
0.18388
|
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)
|
rs543304
|
0.18381
|
NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His)
|
rs6927567
|
0.18378
|
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=)
|
rs1063125
|
0.18359
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)
|
rs2126082
|
0.18278
|
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=)
|
rs16979162
|
0.18249
|
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg)
|
rs6811423
|
0.18249
|
NM_001039348.3(EFEMP1):c.518-13A>G
|
rs3748959
|
0.18234
|
NM_207361.6(FREM2):c.1542C>T (p.Ala514=)
|
rs12874397
|
0.18215
|
NM_014141.6(CNTNAP2):c.3248-4A>G
|
rs3779031
|
0.18203
|
NM_173660.5(DOK7):c.1113A>C (p.Ser371=)
|
rs6811856
|
0.18181
|
NM_006371.5(CRTAP):c.534C>T (p.Asp178=)
|
rs4076086
|
0.18059
|
NM_002207.3(ITGA9):c.1839+49G>C
|
rs2282485
|
0.17925
|
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)
|
rs6820907
|
0.17921
|
NM_000478.6(ALPL):c.862+20G>T
|
rs2275377
|
0.17895
|
NM_032638.5(GATA2):c.1018-19C>T
|
rs11708606
|
0.17884
|
NM_000478.6(ALPL):c.787T>C (p.Tyr263His)
|
rs3200254
|
0.17878
|
NM_032551.5(KISS1R):c.24A>G (p.Gly8=)
|
rs10407968
|
0.17826
|
NM_001848.3(COL6A1):c.903+14C>A
|
rs34495634
|
0.17795
|
NM_000240.4(MAOA):c.385A>C (p.Arg129=)
|
rs1800464
|
0.17743
|
NM_012254.3(SLC27A5):c.149T>C (p.Met50Thr)
|
rs35350976
|
0.17724
|
NM_001379200.1(TBX1):c.960A>G (p.Ala320=)
|
rs41298840
|
0.17709
|
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)
|
rs72646967
|
0.17704
|
NM_014425.5(INVS):c.-110T>G
|
rs7024375
|
0.17693
|
NM_001379200.1(TBX1):c.447T>C (p.Phe149=)
|
rs41298814
|
0.17676
|
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser)
|
rs665278
|
0.17617
|
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=)
|
rs2099489
|
0.17611
|
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)
|
rs2228528
|
0.17598
|
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_000057.4(BLM):c.3102G>A (p.Thr1034=)
|
rs2227933
|
0.17570
|
NM_173660.5(DOK7):c.1134G>A (p.Ala378=)
|
rs6831659
|
0.17563
|
NM_004369.4(COL6A3):c.6880-47T>C
|
rs2646263
|
0.17514
|
NM_001849.4(COL6A2):c.1333-8T>C
|
rs73159701
|
0.17496
|
NM_001164508.2(NEB):c.3879+20G>T
|
rs12618063
|
0.17493
|
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=)
|
rs2565061
|
0.17492
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
NM_015102.5(NPHP4):c.1441+13A>G
|
rs7520105
|
0.17476
|
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)
|
rs34592169
|
0.17471
|
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=)
|
rs8011292
|
0.17455
|
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=)
|
rs1045874
|
0.17452
|
NM_005045.4(RELN):c.10074A>G (p.Ala3358=)
|
rs1062831
|
0.17444
|
NM_001384140.1(PCDH15):c.4671+1344A>C
|
rs11003863
|
0.17427
|
NM_024301.5(FKRP):c.-34C>T
|
rs3201779
|
0.17414
|
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)
|
rs3810950
|
0.17408
|
NM_004463.3(FGD1):c.2091T>C (p.Thr697=)
|
rs12011120
|
0.17397
|
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro)
|
rs8075
|
0.17369
|
NM_017534.6(MYH2):c.5034C>T (p.Ala1678=)
|
rs1042236
|
0.17365
|
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val)
|
rs2269529
|
0.17342
|
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=)
|
rs1469698
|
0.17268
|
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=)
|
rs2820718
|
0.17214
|
NM_001289104.2(PRKCSH):c.871G>A (p.Ala291Thr)
|
rs11557488
|
0.17152
|
NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=)
|
rs6685892
|
0.17147
|
NM_000478.6(ALPL):c.863-7T>C
|
rs74063111
|
0.17114
|
NM_020975.6(RET):c.2712C>G (p.Ser904=)
|
rs1800863
|
0.17043
|
NM_001123385.2(BCOR):c.4977-4G>T
|
rs5963725
|
0.16998
|
NM_006073.4(TRDN):c.1370-11C>A
|
rs9401658
|
0.16989
|
NM_000182.5(HADHA):c.474C>T (p.Tyr158=)
|
rs11552518
|
0.16973
|
NM_000203.5(IDUA):c.543T>C (p.Asn181=)
|
rs6815946
|
0.16952
|
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=)
|
rs1544514
|
0.16949
|
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)
|
rs11537641
|
0.16943
|
NM_012254.3(SLC27A5):c.157C>T (p.Arg53Trp)
|
rs34415062
|
0.16909
|
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)
|
rs56110889
|
0.16907
|
NM_001353214.3(DYM):c.-54+34G>C
|
rs60901553
|
0.16905
|
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)
|
rs73066479
|
0.16867
|
NM_005802.5(TOPORS):c.2319T>C (p.Ser773=)
|
rs10971019
|
0.16858
|
NM_000203.5(IDUA):c.1467C>T (p.Arg489=)
|
rs115929690
|
0.16835
|
NM_000203.5(IDUA):c.942G>C (p.Ala314=)
|
rs6830825
|
0.16834
|
NM_000335.5(SCN5A):c.1141-3C>A
|
rs41312433
|
0.16821
|
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)
|
rs35188041
|
0.16806
|
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)
|
rs56342400
|
0.16783
|
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)
|
rs6831280
|
0.16782
|
NM_000245.4(MET):c.1944A>G (p.Gln648=)
|
rs13223756
|
0.16754
|
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=)
|
rs11740250
|
0.16701
|
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile)
|
rs17720303
|
0.16644
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_024426.6(WT1):c.1122A>G (p.Arg374=)
|
rs16754
|
0.16617
|
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile)
|
rs2472553
|
0.16614
|
NM_000152.5(GAA):c.642C>T (p.Ser214=)
|
rs1800301
|
0.16610
|
NM_001377.3(DYNC2H1):c.11256+18C>T
|
rs11225674
|
0.16562
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_000203.5(IDUA):c.1164G>C (p.Thr388=)
|
rs6836258
|
0.16540
|
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val)
|
rs17411795
|
0.16501
|
NM_001267550.2(TTN):c.104988C>T (p.Val34996=)
|
rs3829748
|
0.16457
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)
|
rs11549708
|
0.16388
|
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)
|
rs2228500
|
0.16379
|
NM_000455.5(STK11):c.920+7G>C
|
rs2075607
|
0.16357
|
NM_000346.4(SOX9):c.507C>T (p.His169=)
|
rs2229989
|
0.16350
|
NM_006922.4(SCN3A):c.2547A>C (p.Val849=)
|
rs62174900
|
0.16330
|
NM_000138.5(FBN1):c.3464-5G>A
|
rs11853943
|
0.16287
|
NM_203288.2(RP9):c.629A>G (p.Lys210Arg)
|
rs150987618
|
0.16255
|
NM_018136.5(ASPM):c.2174-20T>C
|
rs4915344
|
0.16253
|
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)
|
rs1799858
|
0.16150
|
NM_000426.4(LAMA2):c.6237G>A (p.Thr2079=)
|
rs2297738
|
0.16113
|
NM_152618.3(BBS12):c.1380G>C (p.Val460=)
|
rs13135766
|
0.16051
|
NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=)
|
rs20539
|
0.16047
|
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=)
|
rs2071134
|
0.15977
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_001386393.1(PANK2):c.1083-14_1083-9dup
|
rs10679953
|
0.15963
|
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala)
|
rs4935502
|
0.15952
|
NM_002878.4(RAD51D):c.234C>T (p.Ser78=)
|
rs9901455
|
0.15951
|
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262
|
0.15945
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)
|
rs13135778
|
0.15902
|
NM_004006.3(DMD):c.7728T>C (p.Asn2576=)
|
rs1801188
|
0.15883
|
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val)
|
rs17744093
|
0.15871
|
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)
|
rs13102440
|
0.15807
|
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)
|
rs2230028
|
0.15795
|
NM_004183.4(BEST1):c.1557C>T (p.Ser519=)
|
rs1800008
|
0.15775
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
NM_000535.7(PMS2):c.903+144G>T
|
rs12702462
|
0.15665
|
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=)
|
rs34253433
|
0.15556
|
NM_003361.4(UMOD):c.792G>A (p.Val264=)
|
rs13335818
|
0.15554
|
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=)
|
rs2857265
|
0.15539
|
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=)
|
rs3731748
|
0.15537
|
NM_000532.5(PCCB):c.654+20T>C
|
rs3821445
|
0.15527
|
NM_000057.4(BLM):c.3945C>T (p.Leu1315=)
|
rs1063147
|
0.15526
|
NM_000057.4(BLM):c.3531C>A (p.Ala1177=)
|
rs2227934
|
0.15517
|
NM_001458.5(FLNC):c.4431G>A (p.Leu1477=)
|
rs2291568
|
0.15512
|
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu)
|
rs13051496
|
0.15479
|
NM_006371.5(CRTAP):c.213G>A (p.Leu71=)
|
rs11558338
|
0.15448
|
NM_032409.3(PINK1):c.189C>T (p.Leu63=)
|
rs45530340
|
0.15436
|
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)
|
rs3812153
|
0.15428
|
NM_004380.3(CREBBP):c.3837-8C>T
|
rs3025684
|
0.15427
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_022039.4(FBXW4):c.461T>A (p.Val154Glu)
|
rs61382490
|
0.15406
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_024426.6(WT1):c.345C>T (p.Pro115=)
|
rs1799925
|
0.15374
|
NM_000392.5(ABCC2):c.-24C>T
|
rs717620
|
0.15338
|
NM_000552.5(VWF):c.954T>A (p.Asn318Lys)
|
rs1800387
|
0.15296
|
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro)
|
rs28932178
|
0.15259
|
NM_000098.3(CPT2):c.1939A>G (p.Met647Val)
|
rs1799822
|
0.15237
|
NM_004994.3(MMP9):c.2003G>A (p.Arg668Gln)
|
rs17577
|
0.15237
|
NM_001319074.4(RAX2):c.217-8C>T
|
rs79588413
|
0.15214
|
NM_000231.3(SGCG):c.228T>C (p.Asp76=)
|
rs1800350
|
0.15152
|
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=)
|
rs10823829
|
0.15109
|
NM_001849.4(COL6A2):c.1734+35A>G
|
rs55933135
|
0.15106
|
NM_000350.3(ABCA4):c.6730-3T>C
|
rs1800717
|
0.15096
|
NM_001130987.2(DYSF):c.1276+11C>T
|
rs35982795
|
0.15096
|
NM_000543.5(SMPD1):c.636T>C (p.Asp212=)
|
rs7951904
|
0.15081
|
NM_003361.4(UMOD):c.885G>A (p.Gly295=)
|
rs28544423
|
0.15053
|
NM_000531.6(OTC):c.299-8T>A
|
rs73196229
|
0.15031
|
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)
|
rs2009923
|
0.15011
|
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)
|
rs28938169
|
0.15001
|
NM_004994.3(MMP9):c.649+3G>T
|
rs2274755
|
0.14987
|
NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr)
|
rs10852891
|
0.14975
|
NM_201596.3(CACNB2):c.1965T>G (p.Asp655Glu)
|
rs58225473
|
0.14908
|
NM_001354712.2(THRB):c.735C>T (p.Phe245=)
|
rs3752874
|
0.14868
|
NM_002025.4(AFF2):c.1488G>A (p.Ser496=)
|
rs12011040
|
0.14855
|
NM_001122769.3(LCA5):c.77A>C (p.Asp26Ala)
|
rs34068461
|
0.14840
|
NM_001379270.1(CNGA1):c.340G>A (p.Asp114Asn)
|
rs28642966
|
0.14829
|
NM_033109.5(PNPT1):c.1768A>G (p.Asn590Asp)
|
rs7594497
|
0.14820
|
NM_004937.3(CTNS):c.504G>A (p.Thr168=)
|
rs1800528
|
0.14800
|
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=)
|
rs1129767
|
0.14787
|
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=)
|
rs2920676
|
0.14726
|
NM_000179.3(MSH6):c.276A>G (p.Pro92=)
|
rs1800932
|
0.14697
|
NM_201384.3(PLEC):c.3757-9A>G
|
rs57461687
|
0.14687
|
NM_004463.3(FGD1):c.2136A>G (p.Pro712=)
|
rs1126744
|
0.14669
|
NM_001363.5(DKC1):c.*6G>A
|
rs1800533
|
0.14655
|
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=)
|
rs75510884
|
0.14645
|
NM_017780.4(CHD7):c.6103+8C>T
|
rs3763592
|
0.14641
|
NM_004369.4(COL6A3):c.*7G>C
|
rs4663722
|
0.14594
|
NM_182961.4(SYNE1):c.17745C>T (p.His5915=)
|
rs12664753
|
0.14557
|
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=)
|
rs74331768
|
0.14545
|
NM_014254.3(RXYLT1):c.*18C>G
|
rs1876465
|
0.14533
|
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
|
rs2234962
|
0.14532
|
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)
|
rs36094464
|
0.14530
|
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)
|
rs6652
|
0.14487
|
NM_001165967.2(HES7):c.402A>G (p.Lys134=)
|
rs56066045
|
0.14472
|
NM_001025389.2(AMPD3):c.573G>A (p.Pro191=)
|
rs16907852
|
0.14463
|
NM_000083.3(CLCN1):c.1401+17T>C
|
rs7794560
|
0.14458
|
NM_001077365.2(POMT1):c.1082+16G>A
|
rs59515295
|
0.14451
|
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)
|
rs3731749
|
0.14445
|
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
|
rs34603128
|
0.14353
|
NM_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14330
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_000126.4(ETFA):c.39+12C>G
|
rs62027051
|
0.14273
|
NM_000282.4(PCCA):c.627A>G (p.Ala209=)
|
rs538229
|
0.14245
|
NM_016335.6(PRODH):c.88C>T (p.Pro30Ser)
|
rs3815655
|
0.14238
|
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys)
|
rs1547
|
0.14159
|
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)
|
rs1545
|
0.14147
|
NM_024757.5(EHMT1):c.3375-9A>C
|
rs73578877
|
0.14146
|
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)
|
rs16025
|
0.14118
|
NM_020203.6(MEPE):c.988G>A (p.Val330Ile)
|
rs17013285
|
0.14103
|
NM_170784.3(MKKS):c.534C>T (p.Ile178=)
|
rs17852625
|
0.14082
|
NM_170784.3(MKKS):c.985+16T>G
|
rs6133917
|
0.14080
|
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile)
|
rs10459809
|
0.14066
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
NM_001369268.1(ACAN):c.3351C>T (p.Thr1117=)
|
rs530742363
|
0.13982
|
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=)
|
rs9977394
|
0.13855
|
NM_139343.3(BIN1):c.957C>T (p.Ala319=)
|
rs2276579
|
0.13837
|
NM_000436.4(OXCT1):c.414+7A>C
|
rs7723992
|
0.13820
|
NM_001845.6(COL4A1):c.234+8C>T
|
rs9521650
|
0.13807
|
NM_001127255.2(NLRP7):c.1460G>A (p.Gly487Glu)
|
rs775881
|
0.13795
|
NM_002778.4(PSAP):c.1005+18C>T
|
rs55829339
|
0.13764
|
NM_001130987.2(DYSF):c.888+11T>C
|
rs13428076
|
0.13574
|
NM_001377.3(DYNC2H1):c.11649+12C>A
|
rs79978663
|
0.13559
|
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)
|
rs11090865
|
0.13476
|
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=)
|
rs650724
|
0.13448
|
NM_000088.4(COL1A1):c.1930-14T>C
|
rs2696247
|
0.13425
|
NM_018714.3(COG1):c.1473C>T (p.Ser491=)
|
rs1551036
|
0.13412
|
NM_000512.5(GALNS):c.244+19C>T
|
rs35137494
|
0.13406
|
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His)
|
rs2288569
|
0.13356
|
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023
|
0.13336
|
NM_004565.3(PEX14):c.1032G>T (p.Gly344=)
|
rs11539794
|
0.13336
|
NM_024757.5(EHMT1):c.1501+13G>T
|
rs3125794
|
0.13335
|
NM_014846.4(WASHC5):c.417+11A>G
|
rs2384917
|
0.13320
|
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=)
|
rs758506
|
0.13313
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=)
|
rs3798756
|
0.13297
|
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)
|
rs3829747
|
0.13294
|
NM_024426.6(WT1):c.609C>T (p.Asn203=)
|
rs2234583
|
0.13287
|
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys)
|
rs744426
|
0.13213
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=)
|
rs7049300
|
0.13090
|
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=)
|
rs61748200
|
0.13068
|
NM_015386.3(COG4):c.171+18T>C
|
rs16970260
|
0.13009
|
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val)
|
rs7130656
|
0.12992
|
NM_001365536.1(SCN9A):c.2105-15G>A
|
rs4525717
|
0.12980
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=)
|
rs2291795
|
0.12954
|
NM_138694.4(PKHD1):c.1234-10T>A
|
rs4715272
|
0.12902
|
NM_004006.3(DMD):c.837G>A (p.Thr279=)
|
rs1800265
|
0.12849
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu)
|
rs2294984
|
0.12823
|
NM_000179.3(MSH6):c.186C>A (p.Arg62=)
|
rs1042820
|
0.12806
|
NM_022455.5(NSD1):c.1749G>A (p.Glu583=)
|
rs3733874
|
0.12785
|
NM_001379081.2(FREM1):c.2587C>G (p.Leu863Val)
|
rs7041710
|
0.12780
|
NM_003477.3(PDHX):c.-4C>G
|
rs3818401
|
0.12767
|
NM_004006.3(DMD):c.1635A>G (p.Arg545=)
|
rs5927083
|
0.12751
|
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln)
|
rs2273526
|
0.12707
|
NM_021625.5(TRPV4):c.789T>C (p.Asp263=)
|
rs3742034
|
0.12664
|
NM_000030.3(AGXT):c.654G>A (p.Ser218=)
|
rs33958047
|
0.12652
|
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)
|
rs10805890
|
0.12644
|
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu)
|
rs3733875
|
0.12636
|
NM_001025389.2(AMPD3):c.222-17T>C
|
rs73409951
|
0.12537
|
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)
|
rs2068096
|
0.12528
|
NM_000071.3(CBS):c.828+23A>G
|
rs73220911
|
0.12482
|
NM_000169.3(GLA):c.640-16A>G
|
rs2071397
|
0.12447
|
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=)
|
rs10825114
|
0.12444
|
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu)
|
rs3858340
|
0.12393
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
NM_004281.4(BAG3):c.1002T>G (p.Pro334=)
|
rs3858339
|
0.12375
|
NM_001849.4(COL6A2):c.1522-36T>C
|
rs9976026
|
0.12352
|
NM_000535.7(PMS2):c.2007-4G>A
|
rs1805326
|
0.12350
|
NM_000046.5(ARSB):c.1126G>A (p.Val376Met)
|
rs1071598
|
0.12316
|
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr)
|
rs2235491
|
0.12316
|
NM_000089.4(COL1A2):c.87T>C (p.Thr29=)
|
rs1801182
|
0.12315
|
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly)
|
rs1782360
|
0.12249
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_001297.5(CNGB1):c.1644T>C (p.Asp548=)
|
rs2161703
|
0.12201
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
NM_054012.4(ASS1):c.501C>T (p.His167=)
|
rs10901072
|
0.12154
|
NM_023067.4(FOXL2):c.536C>G (p.Ala179Gly)
|
rs7432551
|
0.12148
|
NM_000535.7(PMS2):c.2007-7C>T
|
rs55954143
|
0.12135
|
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)
|
rs3822471
|
0.12117
|
NM_001079802.2(FKTN):c.*2280T>C
|
rs1024366
|
0.12115
|
NM_133433.4(NIPBL):c.3575-17A>G
|
rs78827246
|
0.12109
|
NM_016579.4(CD320):c.268+19T>G
|
rs2232780
|
0.12049
|
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr)
|
rs4988496
|
0.12048
|
NM_019066.5(MAGEL2):c.1387G>C (p.Ala463Pro)
|
rs2233063
|
0.12004
|
NM_000153.4(GALC):c.328+19T>A
|
rs74337989
|
0.12002
|
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)
|
rs1800440
|
0.11965
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)
|
rs1065758
|
0.11920
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
NM_001849.4(COL6A2):c.1521+21A>G
|
rs1077182
|
0.11912
|
NM_181332.3(NLGN4X):c.-306+359G>A
|
rs73457060
|
0.11893
|
NM_001849.4(COL6A2):c.1609-10C>T
|
rs17357592
|
0.11879
|
NM_000208.4(INSR):c.783C>T (p.Asp261=)
|
rs891087
|
0.11869
|
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022
|
0.11855
|
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)
|
rs1801686
|
0.11812
|
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)
|
rs709932
|
0.11804
|
NM_001130987.2(DYSF):c.760-17C>T
|
rs61104194
|
0.11792
|
NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu)
|
rs9745522
|
0.11789
|
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys)
|
rs7279204
|
0.11770
|
NM_023067.4(FOXL2):c.501C>T (p.Phe167=)
|
rs61750361
|
0.11764
|
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=)
|
rs3747990
|
0.11763
|
NM_002225.5(IVD):c.723C>T (p.Asp241=)
|
rs2229312
|
0.11757
|
NM_001077365.2(POMT1):c.699+53=
|
rs2296949
|
0.11752
|
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=)
|
rs12120967
|
0.11732
|
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly)
|
rs11541494
|
0.11689
|
NM_002335.4(LRP5):c.2220C>T (p.Asn740=)
|
rs2306862
|
0.11683
|
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)
|
rs55666134
|
0.11626
|
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=)
|
rs7691
|
0.11555
|
NM_003283.6(TNNT1):c.47-13C>T
|
rs11669534
|
0.11553
|
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)
|
rs747122
|
0.11550
|
NM_006265.3(RAD21):c.688+8G>A
|
rs2921787
|
0.11506
|
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=)
|
rs4925112
|
0.11504
|
NM_001853.4(COL9A3):c.93C>A (p.Pro31=)
|
rs2273078
|
0.11502
|
NM_013382.7(POMT2):c.1117-20C>T
|
rs7153929
|
0.11460
|
NM_005122.5(NR1I3):c.917+17A>C
|
rs2307418
|
0.11459
|
NM_017617.5(NOTCH1):c.2740+12C>T
|
rs36119806
|
0.11457
|
NM_000535.7(PMS2):c.2466T>C (p.Leu822=)
|
rs10000
|
0.11447
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)
|
rs12926089
|
0.11417
|
NM_000147.4(FUCA1):c.-12T>C
|
rs2070954
|
0.11405
|
NM_002024.6(FMR1):c.990+14C>T
|
rs25714
|
0.11379
|
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys)
|
rs2742347
|
0.11354
|
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=)
|
rs17371795
|
0.11349
|
NM_001164508.2(NEB):c.11077-4G>T
|
rs878924060
|
0.11336
|
NM_001558.4(IL10RA):c.475A>G (p.Ser159Gly)
|
rs3135932
|
0.11335
|
NM_153212.3(GJB4):c.*17A>G
|
rs755931
|
0.11332
|
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser)
|
rs17343819
|
0.11318
|
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=)
|
rs9983522
|
0.11315
|
NM_000152.5(GAA):c.921A>T (p.Ala307=)
|
rs1800303
|
0.11304
|
NM_000153.4(GALC):c.42G>C (p.Ala14=)
|
rs112992946
|
0.11300
|
NM_000153.4(GALC):c.61G>C (p.Ala21Pro)
|
rs111887056
|
0.11296
|
NM_000153.4(GALC):c.75C>A (p.Gly25=)
|
rs111976362
|
0.11287
|
NM_001127255.2(NLRP7):c.1441G>A (p.Ala481Thr)
|
rs61747414
|
0.11267
|
NM_014324.6(AMACR):c.717G>T (p.Gln239His)
|
rs34677
|
0.11264
|
NM_001177316.2(SLC34A3):c.1094-10T>A
|
rs35535797
|
0.11228
|
NM_001164277.2(SLC37A4):c.626+19C>T
|
rs741811
|
0.11102
|
NM_003859.3(DPM1):c.679-7A>T
|
rs60224379
|
0.11090
|
NM_001854.4(COL11A1):c.660T>C (p.Ile220=)
|
rs71664966
|
0.11088
|
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)
|
rs2272946
|
0.11020
|
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=)
|
rs11000009
|
0.10990
|
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=)
|
rs7884085
|
0.10905
|
NM_198586.3(NHLRC1):c.312T>C (p.His104=)
|
rs115931931
|
0.10897
|
NM_001142800.2(EYS):c.3906C>T (p.His1302=)
|
rs12663916
|
0.10887
|
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys)
|
rs41305539
|
0.10827
|
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
NM_021098.3(CACNA1H):c.2603+12C>T
|
rs2745150
|
0.10774
|
NM_006416.5(SLC35A1):c.887-14T>C
|
rs56136150
|
0.10768
|
NM_004369.4(COL6A3):c.6930+43G>C
|
rs2646264
|
0.10764
|
NM_172364.5(CACNA2D4):c.3330C>T (p.Gly1110=)
|
rs33912216
|
0.10702
|
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)
|
rs3736228
|
0.10701
|
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)
|
rs472294
|
0.10691
|
NM_004646.4(NPHS1):c.3230A>G (p.Asn1077Ser)
|
rs4806213
|
0.10689
|
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)
|
rs1801725
|
0.10682
|
NM_054012.4(ASS1):c.876T>C (p.His292=)
|
rs1057484
|
0.10667
|
NM_000180.4(GUCY2D):c.741C>T (p.His247=)
|
rs3829789
|
0.10665
|
NM_000053.4(ATP7B):c.2866-13G>C
|
rs7325983
|
0.10642
|
NM_014141.6(CNTNAP2):c.2256-6A>T
|
rs10240482
|
0.10641
|
NM_001370259.2(MEN1):c.1621= (p.Thr541=)
|
rs2959656
|
0.10623
|
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=)
|
rs2646265
|
0.10608
|
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe)
|
rs57312007
|
0.10595
|
NM_000404.4(GLB1):c.458-11T>C
|
rs34204221
|
0.10591
|
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val)
|
rs2228612
|
0.10575
|
NM_012210.4(TRIM32):c.1254G>A (p.Val418=)
|
rs1661300
|
0.10569
|
NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser)
|
rs10281879
|
0.10561
|
NM_005609.4(PYGM):c.1827+7A>G
|
rs532747
|
0.10554
|
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr)
|
rs755793
|
0.10553
|
NM_000383.4(AIRE):c.1095+6G>A
|
rs1800525
|
0.10544
|
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=)
|
rs35943616
|
0.10540
|
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=)
|
rs2646258
|
0.10531
|
NM_002024.6(FMR1):c.414G>A (p.Arg138=)
|
rs25707
|
0.10515
|
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=)
|
rs28932181
|
0.10490
|
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)
|
rs2229385
|
0.10476
|
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=)
|
rs1061361
|
0.10447
|
NM_002529.4(NTRK1):c.2047-16T>C
|
rs12076232
|
0.10434
|
NM_001848.3(COL6A1):c.1002+43A>G
|
rs11702175
|
0.10415
|
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys)
|
rs16866538
|
0.10360
|
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu)
|
rs17807673
|
0.10334
|
NM_000113.3(TOR1A):c.646G>C (p.Asp216His)
|
rs1801968
|
0.10301
|
NM_004183.4(BEST1):c.219C>A (p.Ile73=)
|
rs1109748
|
0.10271
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
NM_133497.4(KCNV2):c.759A>G (p.Pro253=)
|
rs10967709
|
0.10241
|
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
|
rs1805084
|
0.10225
|
NM_006059.4(LAMC3):c.75C>T (p.Cys25=)
|
rs13286358
|
0.10217
|
NM_005529.7(HSPG2):c.11340T>C (p.Asn3780=)
|
rs2229488
|
0.10195
|
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=)
|
rs62639695
|
0.10172
|
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=)
|
rs12662610
|
0.10143
|
NM_005105.5(RBM8A):c.128-61C>A
|
rs59285351
|
0.10136
|
NM_005045.4(RELN):c.2989C>G (p.Leu997Val)
|
rs362691
|
0.10133
|
NM_000512.5(GALNS):c.199C>A (p.Leu67Met)
|
rs11862754
|
0.10099
|
NM_000152.5(GAA):c.1374C>T (p.Tyr458=)
|
rs1800305
|
0.10079
|
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr)
|
rs9511510
|
0.10060
|
NM_005247.4(FGF3):c.69G>T (p.Ala23=)
|
rs41538178
|
0.10055
|
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp)
|
rs2070955
|
0.10031
|
NM_004369.4(COL6A3):c.9213C>T (p.His3071=)
|
rs2270671
|
0.10029
|
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp)
|
rs12085009
|
0.10007
|
NM_001848.3(COL6A1):c.1002+43_1002+52del
|
rs398123629
|
0.09993
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys)
|
rs2234926
|
0.09970
|
NM_001130987.2(DYSF):c.951+4T>C
|
rs11903960
|
0.09951
|
NM_021098.3(CACNA1H):c.1353C>T (p.Ser451=)
|
rs9922076
|
0.09939
|
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=)
|
rs2407083
|
0.09922
|
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser)
|
rs2070739
|
0.09896
|
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg)
|
rs9905402
|
0.09880
|
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)
|
rs62415828
|
0.09865
|
NM_001035.3(RYR2):c.849-8T>C
|
rs16835237
|
0.09863
|
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=)
|
rs12663619
|
0.09859
|
NM_001849.4(COL6A2):c.663C>T (p.Pro221=)
|
rs59531343
|
0.09859
|
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=)
|
rs62415825
|
0.09856
|
NM_000142.5(FGFR3):c.603T>C (p.Ile201=)
|
rs2305181
|
0.09854
|
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val)
|
rs17403955
|
0.09853
|
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu)
|
rs12663622
|
0.09847
|
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp)
|
rs62415827
|
0.09842
|
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly)
|
rs62415826
|
0.09832
|
NM_000492.4(CFTR):c.1210-13G>T
|
rs10229820
|
0.09791
|
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu)
|
rs2855430
|
0.09772
|
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=)
|
rs2228072
|
0.09736
|
NM_004839.4(HOMER2):c.651+9G>A
|
rs2306428
|
0.09727
|
NM_001287.6(CLCN7):c.1245T>C (p.Ile415=)
|
rs12926669
|
0.09695
|
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=)
|
rs34644439
|
0.09690
|
NM_001378615.1(CC2D2A):c.2003+19C>T
|
rs17476642
|
0.09677
|
NM_025193.4(HSD3B7):c.1040T>C (p.Leu347Pro)
|
rs34212827
|
0.09674
|
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly)
|
rs3729989
|
0.09621
|
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr)
|
rs1064210
|
0.09584
|
NM_001384140.1(PCDH15):c.157+3A>G
|
rs41274636
|
0.09581
|
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val)
|
rs16895517
|
0.09577
|
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro)
|
rs77247739
|
0.09564
|
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)
|
rs1801496
|
0.09551
|
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=)
|
rs4764655
|
0.09551
|
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)
|
rs1801688
|
0.09526
|
NM_001349206.2(LPIN1):c.552C>T (p.Ile184=)
|
rs11538448
|
0.09460
|
NM_004817.4(TJP2):c.1672-20C>G
|
rs80014470
|
0.09453
|
NM_000350.3(ABCA4):c.1269C>T (p.His423=)
|
rs4147831
|
0.09402
|
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=)
|
rs35686634
|
0.09361
|
NM_024741.3(ZNF408):c.366C>G (p.Ala122=)
|
rs4297419
|
0.09357
|
NM_001034853.2(RPGR):c.1572+11A>G
|
rs62635008
|
0.09352
|
NM_138694.4(PKHD1):c.214C>T (p.Leu72=)
|
rs6901799
|
0.09338
|
NM_001849.4(COL6A2):c.714+45C>T
|
rs2070957
|
0.09326
|
NM_033380.3(COL4A5):c.2768-11A>G
|
rs1006269
|
0.09324
|
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)
|
rs10197596
|
0.09320
|
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)
|
rs7833870
|
0.09284
|
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)
|
rs10208525
|
0.09281
|
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)
|
rs1801687
|
0.09261
|
NM_153603.4(COG7):c.2103T>C (p.Pro701=)
|
rs8057712
|
0.09257
|
NM_001367721.1(CASK):c.1034-6C>T
|
rs73470569
|
0.09241
|
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=)
|
rs2291306
|
0.09235
|
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)
|
rs1141528
|
0.09226
|
NM_001849.4(COL6A2):c.1735-30A>G
|
rs73382466
|
0.09173
|
NM_002076.4(GNS):c.363G>A (p.Lys121=)
|
rs2230291
|
0.09139
|
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)
|
rs2306942
|
0.09135
|
NM_000251.3(MSH2):c.1511-9A>T
|
rs12998837
|
0.09123
|
NM_006363.6(SEC23B):c.1405-7C>T
|
rs2273525
|
0.09089
|
NM_024105.4(ALG12):c.1177A>G (p.Ile393Val)
|
rs3922872
|
0.09076
|
NM_024009.3(GJB3):c.798C>T (p.Asn266=)
|
rs35983826
|
0.09056
|
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met)
|
rs6569336
|
0.09024
|
NM_000251.3(MSH2):c.367-168C>T
|
rs17217758
|
0.08993
|
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)
|
rs3817641
|
0.08986
|
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=)
|
rs72648978
|
0.08958
|
NM_021098.3(CACNA1H):c.6179G>A (p.Arg2060His)
|
rs1054644
|
0.08945
|
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)
|
rs35836657
|
0.08930
|
NM_000023.4(SGCA):c.933C>T (p.Val311=)
|
rs1801191
|
0.08920
|
NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg)
|
rs2303785
|
0.08900
|
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr)
|
rs9944035
|
0.08879
|
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys)
|
rs66462731
|
0.08861
|
NM_000512.5(GALNS):c.634-20C>T
|
rs17603837
|
0.08794
|
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg)
|
rs2792205
|
0.08782
|
NM_000540.3(RYR1):c.7527G>A (p.Val2509=)
|
rs2071088
|
0.08780
|
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=)
|
rs215976
|
0.08744
|
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter)
|
rs2781377
|
0.08740
|
NM_000183.3(HADHB):c.1149+4A>T
|
rs2303893
|
0.08727
|
NM_173500.4(TTBK2):c.-8G>A
|
rs16957250
|
0.08720
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys)
|
rs3850625
|
0.08709
|
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly)
|
rs1042636
|
0.08688
|
NM_001360.3(DHCR7):c.231C>T (p.Thr77=)
|
rs4316537
|
0.08662
|
NM_153033.5(KCTD7):c.267G>A (p.Thr89=)
|
rs3764904
|
0.08655
|
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala)
|
rs2244008
|
0.08650
|
NM_201384.3(PLEC):c.3261-13G>A
|
rs11991798
|
0.08644
|
NM_000297.4(PKD2):c.420G>A (p.Gly140=)
|
rs2728118
|
0.08616
|
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=)
|
rs11998271
|
0.08588
|
NM_004380.3(CREBBP):c.939T>C (p.Asp313=)
|
rs3025702
|
0.08570
|
NM_001876.4(CPT1A):c.963G>A (p.Glu321=)
|
rs2229737
|
0.08543
|
NM_004985.5(KRAS):c.451-9G>A
|
rs12313763
|
0.08467
|
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=)
|
rs79893125
|
0.08466
|
NM_033337.3(CAV3):c.27C>T (p.Leu9=)
|
rs1974763
|
0.08452
|
NM_001876.4(CPT1A):c.968-8C>T
|
rs2305507
|
0.08414
|
NM_012418.4(FSCN2):c.738T>C (p.Pro246=)
|
rs34567655
|
0.08398
|
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)
|
rs2230517
|
0.08379
|
NM_000426.4(LAMA2):c.156C>T (p.Ile52=)
|
rs1140366
|
0.08370
|
NM_000251.3(MSH2):c.2006-6T>C
|
rs2303428
|
0.08349
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_006158.5(NEFL):c.1170-13T>C
|
rs76347846
|
0.08329
|
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)
|
rs3739927
|
0.08329
|
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)
|
rs41314153
|
0.08321
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)
|
rs3735972
|
0.08214
|
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=)
|
rs3735970
|
0.08211
|
NM_003919.3(SGCE):c.391-3T>C
|
rs17166384
|
0.08209
|
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)
|
rs35548026
|
0.08193
|
NM_000426.4(LAMA2):c.4523+19C>T
|
rs17057158
|
0.08168
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
NM_000110.4(DPYD):c.496A>G (p.Met166Val)
|
rs2297595
|
0.08071
|
NM_001130987.2(DYSF):c.239+20G>A
|
rs12470028
|
0.08061
|
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)
|
rs11677877
|
0.08050
|
NM_004380.3(CREBBP):c.1676+18A>T
|
rs130018
|
0.08039
|
NM_003001.5(SDHC):c.*123C>G
|
rs3813632
|
0.08037
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.08017
|
NM_001854.4(COL11A1):c.1308+19A>G
|
rs34587338
|
0.08015
|
NM_001173990.3(TMEM216):c.-2G>T
|
rs7107543
|
0.08005
|
NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=)
|
rs17057184
|
0.07998
|
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)
|
rs1266787
|
0.07947
|
NM_024105.4(ALG12):c.163-19C>A
|
rs11705497
|
0.07946
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
NM_024747.6(HPS6):c.516G>A (p.Gly172=)
|
rs3737243
|
0.07919
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
NM_020458.4(TTC7A):c.300C>T (p.Ser100=)
|
rs61738825
|
0.07874
|
NM_007129.5(ZIC2):c.1059C>T (p.His353=)
|
rs1831992
|
0.07872
|
NM_004463.3(FGD1):c.*36C>T
|
rs2230265
|
0.07863
|
NM_000193.4(SHH):c.-125G>A
|
rs9333594
|
0.07860
|
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala)
|
rs34605986
|
0.07856
|
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=)
|
rs3736456
|
0.07854
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=)
|
rs61749897
|
0.07832
|
NM_000466.3(PEX1):c.-53C>G
|
rs12386703
|
0.07798
|
NM_000553.6(WRN):c.340G>A (p.Val114Ile)
|
rs2230009
|
0.07797
|
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile)
|
rs35027700
|
0.07759
|
NM_005876.5(SPEG):c.1800G>C (p.Arg600=)
|
rs60593157
|
0.07755
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
NM_000748.3(CHRNB2):c.1338+14G>T
|
rs4845378
|
0.07732
|
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=)
|
rs12404427
|
0.07727
|
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=)
|
rs4715271
|
0.07716
|
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)
|
rs1800401
|
0.07659
|
NM_130837.3(OPA1):c.1935+16T>G
|
rs9831772
|
0.07649
|
NM_153212.3(GJB4):c.611A>C (p.Glu204Ala)
|
rs3738346
|
0.07637
|
NM_207361.6(FREM2):c.2250C>T (p.Asp750=)
|
rs41292755
|
0.07615
|
NM_001024630.4(RUNX2):c.240G>A (p.Ala80=)
|
rs6921145
|
0.07604
|
NM_000492.4(CFTR):c.869+11C>T
|
rs1800503
|
0.07590
|
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser)
|
rs9878928
|
0.07568
|
NM_001849.4(COL6A2):c.2423-35C>A
|
rs16978878
|
0.07566
|
NM_000179.3(MSH6):c.3557-185C>T
|
rs3136357
|
0.07557
|
NM_001363.5(DKC1):c.1461C>T (p.Ala487=)
|
rs1127051
|
0.07549
|
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
NM_000137.4(FAH):c.267G>C (p.Leu89=)
|
rs33929922
|
0.07529
|
NM_015046.7(SETX):c.3147C>T (p.His1049=)
|
rs3739921
|
0.07515
|
NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys)
|
rs3751664
|
0.07491
|
NM_004006.3(DMD):c.9225-603T>G
|
rs111482252
|
0.07490
|
NM_004004.6(GJB2):c.-22-12C>T
|
rs9578260
|
0.07478
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
NM_000179.3(MSH6):c.642C>T (p.Tyr214=)
|
rs1800937
|
0.07457
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07445
|
NM_014365.3(HSPB8):c.582C>T (p.Thr194=)
|
rs4628742
|
0.07444
|
NM_206965.2(FTCD):c.417G>A (p.Pro139=)
|
rs61729391
|
0.07442
|
NM_012213.3(MLYCD):c.642-5C>T
|
rs2278037
|
0.07436
|
NM_012213.3(MLYCD):c.642-12A>T
|
rs2278036
|
0.07434
|
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=)
|
rs2076697
|
0.07398
|
NM_153603.4(COG7):c.1814C>T (p.Thr605Met)
|
rs16940094
|
0.07374
|
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)
|
rs17029215
|
0.07361
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=)
|
rs11991764
|
0.07344
|
NM_000046.5(ARSB):c.1214-32T>C
|
rs7721866
|
0.07298
|
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)
|
rs11690358
|
0.07295
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_000245.4(MET):c.534C>T (p.Ser178=)
|
rs35775721
|
0.07211
|
NM_005670.4(EPM2A):c.-15C>A
|
rs7771112
|
0.07210
|
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser)
|
rs34544747
|
0.07202
|
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=)
|
rs45450992
|
0.07198
|
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)
|
rs61753724
|
0.07191
|
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)
|
rs184087864
|
0.07175
|
NM_019109.5(ALG1):c.723C>T (p.His241=)
|
rs7195893
|
0.07135
|
NM_002863.5(PYGL):c.153C>T (p.Asp51=)
|
rs77316189
|
0.07133
|
NM_024009.3(GJB3):c.357C>T (p.Asn119=)
|
rs41310442
|
0.07121
|
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=)
|
rs17144747
|
0.07116
|
NM_025265.4(TSEN2):c.377G>A (p.Arg126His)
|
rs33955793
|
0.07115
|
NM_147127.5(EVC2):c.-15G>A
|
rs76269601
|
0.07112
|
NM_004369.4(COL6A3):c.7175-32G>A
|
rs6725567
|
0.07108
|
NM_001852.4(COL9A2):c.1368+16A>G
|
rs6684531
|
0.07104
|
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=)
|
rs28455570
|
0.07092
|
NM_001194998.2(CEP152):c.691+9C>T
|
rs77732888
|
0.07084
|
NM_000540.3(RYR1):c.6039A>G (p.Lys2013=)
|
rs2228068
|
0.07074
|
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn)
|
rs28385621
|
0.07062
|
NM_006204.4(PDE6C):c.282C>T (p.Asp94=)
|
rs12781149
|
0.07060
|
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=)
|
rs34089404
|
0.07043
|
NM_001287.6(CLCN7):c.822+17T>C
|
rs12933110
|
0.07041
|
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg)
|
rs116092985
|
0.07036
|
NM_000516.7(GNAS):c.433-18T>C
|
rs3730170
|
0.07025
|
NM_001429.4(EP300):c.4026-17C>A
|
rs2294976
|
0.07014
|
NM_144997.7(FLCN):c.397-13G>A
|
rs3744123
|
0.07012
|
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=)
|
rs1801471
|
0.07011
|
NM_025193.4(HSD3B7):c.804C>T (p.Tyr268=)
|
rs17849880
|
0.07001
|
NM_001029883.3(PCARE):c.3668+14T>C
|
rs72861052
|
0.06996
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
NM_020365.5(EIF2B3):c.149-4A>G
|
rs72887005
|
0.06955
|
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)
|
rs28711516
|
0.06950
|
NM_206965.2(FTCD):c.*19C>T
|
rs79622089
|
0.06920
|
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=)
|
rs41300169
|
0.06912
|
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)
|
rs17849848
|
0.06910
|
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=)
|
rs61729844
|
0.06907
|
NM_000875.5(IGF1R):c.4038C>T (p.Tyr1346=)
|
rs17847203
|
0.06905
|
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=)
|
rs34558385
|
0.06903
|
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys)
|
rs6756629
|
0.06901
|
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=)
|
rs11683438
|
0.06890
|
NM_021969.3(NR0B2):c.512G>C (p.Gly171Ala)
|
rs6659176
|
0.06885
|
NM_000104.4(CYP1B1):c.729G>C (p.Val243=)
|
rs9341249
|
0.06879
|
NM_022437.3(ABCG8):c.453G>A (p.Val151=)
|
rs56132765
|
0.06877
|
NM_020717.5(SHROOM4):c.3414A>G (p.Glu1138=)
|
rs6614552
|
0.06860
|
NM_014319.5(LEMD3):c.336C>T (p.Ala112=)
|
rs61736594
|
0.06852
|
NM_033028.5(BBS4):c.-17C>T
|
rs56368716
|
0.06844
|
NM_018006.5(TRMU):c.1176G>A (p.Thr392=)
|
rs34591580
|
0.06826
|
NM_006005.3(WFS1):c.2322G>A (p.Lys774=)
|
rs2230721
|
0.06809
|
NM_000521.4(HEXB):c.772-4A>G
|
rs17561000
|
0.06806
|
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)
|
rs112562759
|
0.06801
|
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)
|
rs3737821
|
0.06797
|
NM_206965.2(FTCD):c.1313C>T (p.Ala438Val)
|
rs61735841
|
0.06786
|
NM_057176.3(BSND):c.177+11G>A
|
rs78904893
|
0.06761
|
NM_001365536.1(SCN9A):c.3802-4A>G
|
rs75230218
|
0.06754
|
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln)
|
rs55741253
|
0.06752
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=)
|
rs13324293
|
0.06728
|
NM_004320.6(ATP2A1):c.1764+6del
|
rs66716803
|
0.06704
|
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=)
|
rs10084221
|
0.06701
|
NM_021101.5(CLDN1):c.-13G>C
|
rs17429833
|
0.06682
|
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)
|
rs10201909
|
0.06660
|
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln)
|
rs62621249
|
0.06636
|
NM_002979.5(SCP2):c.609A>G (p.Glu203=)
|
rs41294530
|
0.06615
|
NM_138694.4(PKHD1):c.10521C>T (p.His3507=)
|
rs34460237
|
0.06613
|
NM_004369.4(COL6A3):c.7669-35C>T
|
rs59232721
|
0.06612
|
NM_001012720.2(RGR):c.19C>T (p.Leu7=)
|
rs11200938
|
0.06594
|
NM_001330078.2(NRXN1):c.3365-109930G>T
|
rs13413205
|
0.06571
|
NM_000540.3(RYR1):c.5334G>T (p.Ser1778=)
|
rs35566549
|
0.06569
|
NM_183050.4(BCKDHB):c.344-24C>T
|
rs73479953
|
0.06567
|
NM_022437.3(ABCG8):c.55G>C (p.Asp19His)
|
rs11887534
|
0.06566
|
NM_000540.3(RYR1):c.7323+20C>A
|
rs2234709
|
0.06555
|
NM_000169.3(GLA):c.-12G>A
|
rs3027585
|
0.06554
|
NM_006516.4(SLC2A1):c.966C>T (p.Val322=)
|
rs2229680
|
0.06553
|
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys)
|
rs17853192
|
0.06550
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=)
|
rs62642470
|
0.06519
|
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)
|
rs150688899
|
0.06491
|
NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala)
|
rs8057701
|
0.06483
|
NM_002206.3(ITGA7):c.415-10C>T
|
rs11171661
|
0.06475
|
NM_001130987.2(DYSF):c.1038C>T (p.His346=)
|
rs36122356
|
0.06463
|
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=)
|
rs61741754
|
0.06453
|
NM_000169.3(GLA):c.-10C>T
|
rs2071225
|
0.06441
|
NM_213599.3(ANO5):c.879-18T>C
|
rs7104758
|
0.06440
|
NM_021728.4(OTX2):c.*10G>A
|
rs171978
|
0.06420
|
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)
|
rs1801591
|
0.06414
|
NM_012233.3(RAB3GAP1):c.2290-17C>T
|
rs56786863
|
0.06414
|
NM_000152.5(GAA):c.1754+12G>A
|
rs2304840
|
0.06396
|
NM_000335.5(SCN5A):c.274-24C>T
|
rs7627488
|
0.06378
|
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=)
|
rs35774552
|
0.06352
|
NM_017617.5(NOTCH1):c.5639-12C>T
|
rs11574908
|
0.06332
|
NM_003482.4(KMT2D):c.13689C>T (p.Pro4563=)
|
rs11168830
|
0.06301
|
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser)
|
rs16844464
|
0.06297
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_003289.4(TPM2):c.*8G>A
|
rs56249943
|
0.06243
|
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val)
|
rs111277421
|
0.06224
|
NM_000371.4(TTR):c.337-18G>C
|
rs36204272
|
0.06198
|
NM_000381.4(MID1):c.1230C>T (p.Ser410=)
|
rs16986145
|
0.06185
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_000287.4(PEX6):c.2364G>A (p.Val788=)
|
rs2274515
|
0.06152
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
NM_001927.4(DES):c.578+11G>A
|
rs111548596
|
0.06130
|
NM_001849.4(COL6A2):c.1817-33C>T
|
rs2276101
|
0.06112
|
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser)
|
rs3766871
|
0.06110
|
NM_001849.4(COL6A2):c.1770+4G>A
|
rs9981981
|
0.06098
|
NM_001853.4(COL9A3):c.129C>T (p.Pro43=)
|
rs2273079
|
0.06051
|
NM_000520.6(HEXA):c.806-48G>T
|
rs73440586
|
0.06050
|
NM_000137.4(FAH):c.1056C>T (p.Ser352=)
|
rs1801374
|
0.06041
|
NM_000520.6(HEXA):c.1074-43C>G
|
rs16956759
|
0.06040
|
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)
|
rs10164753
|
0.06031
|
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=)
|
rs111557381
|
0.06017
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06016
|
NM_006343.3(MERTK):c.2916G>A (p.Ser972=)
|
rs10205793
|
0.06012
|
NM_001267550.2(TTN):c.29042-16G>A
|
rs10203085
|
0.05999
|
NM_004006.3(DMD):c.960+50del
|
rs72470512
|
0.05999
|
NM_004456.5(EZH2):c.553G>C (p.Asp185His)
|
rs2302427
|
0.05998
|
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=)
|
rs79739740
|
0.05992
|
NM_004715.5(CTDP1):c.186G>C (p.Gly62=)
|
rs79644263
|
0.05976
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)
|
rs3827760
|
0.05968
|
NM_005045.4(RELN):c.6702T>C (p.Cys2234=)
|
rs2075043
|
0.05938
|
NM_000487.6(ARSA):c.459C>T (p.His153=)
|
rs6151412
|
0.05937
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=)
|
rs61735811
|
0.05866
|
NM_000531.6(OTC):c.718-14T>C
|
rs55722856
|
0.05854
|
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=)
|
rs17544885
|
0.05849
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
NM_004560.4(ROR2):c.2154C>T (p.Pro718=)
|
rs2230577
|
0.05836
|
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=)
|
rs2304151
|
0.05835
|
NM_001497.4(B4GALT1):c.597C>T (p.His199=)
|
rs1065765
|
0.05834
|
NM_002206.3(ITGA7):c.810G>A (p.Gly270=)
|
rs3847675
|
0.05834
|
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=)
|
rs11988293
|
0.05812
|
NM_006493.4(CLN5):c.173+18C>T
|
rs112141862
|
0.05807
|
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=)
|
rs62642469
|
0.05798
|
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=)
|
rs3731744
|
0.05786
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
NM_005219.5(DIAPH1):c.117+14C>T
|
rs2074913
|
0.05773
|
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)
|
rs1800314
|
0.05752
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=)
|
rs3138150
|
0.05741
|
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=)
|
rs34803322
|
0.05741
|
NM_001278116.2(L1CAM):c.2209-6C>T
|
rs7885771
|
0.05725
|
NM_001849.4(COL6A2):c.1672-37G>T
|
rs79205686
|
0.05715
|
NM_000552.5(VWF):c.2220G>A (p.Met740Ile)
|
rs2228317
|
0.05696
|
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val)
|
rs3888798
|
0.05696
|
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)
|
rs2229738
|
0.05682
|
NM_001849.4(COL6A2):c.1573-32C>T
|
rs17272651
|
0.05679
|
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn)
|
rs11888217
|
0.05644
|
NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp)
|
rs11042836
|
0.05626
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.05626
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_001849.4(COL6A2):c.1970-23G>C
|
rs78764604
|
0.05599
|
NM_000245.4(MET):c.1131C>T (p.Ile377=)
|
rs28444388
|
0.05590
|
NM_054012.4(ASS1):c.174+21A>G
|
rs73541961
|
0.05590
|
NM_001039348.3(EFEMP1):c.1001-14C>T
|
rs45535043
|
0.05588
|
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser)
|
rs76625876
|
0.05582
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05554
|
NM_000152.5(GAA):c.*3G>A
|
rs1800317
|
0.05534
|
NM_013382.7(POMT2):c.162G>T (p.Ala54=)
|
rs2270420
|
0.05519
|
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)
|
rs1064822
|
0.05512
|
NM_001379110.1(SLC9A6):c.1306+8G>A
|
rs6654310
|
0.05510
|
NM_018979.4(WNK1):c.1994C>T (p.Thr665Ile)
|
rs2286007
|
0.05498
|
NM_000046.5(ARSB):c.972A>G (p.Gly324=)
|
rs72762973
|
0.05483
|
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)
|
rs79241126
|
0.05477
|
NM_001004334.4(GPR179):c.5605C>G (p.Gln1869Glu)
|
rs4399578
|
0.05465
|
NM_000875.5(IGF1R):c.2298C>T (p.Thr766=)
|
rs3743262
|
0.05461
|
NM_033087.4(ALG2):c.31T>C (p.Ser11Pro)
|
rs11545137
|
0.05446
|
NM_033087.4(ALG2):c.1100T>C (p.Val367Ala)
|
rs35626507
|
0.05444
|
NM_024757.5(EHMT1):c.1648-20C>T
|
rs12341990
|
0.05440
|
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=)
|
rs61737536
|
0.05436
|
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
NM_000231.3(SGCG):c.*13C>T
|
rs9510701
|
0.05421
|
NM_021098.3(CACNA1H):c.6123T>C (p.Gly2041=)
|
rs3751889
|
0.05412
|
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=)
|
rs76336581
|
0.05399
|
NM_025114.4(CEP290):c.5709+18C>A
|
rs7973969
|
0.05367
|
NM_001205019.2(GK):c.1357+20T>C
|
rs41311819
|
0.05349
|
NM_001848.3(COL6A1):c.1002+37A>G
|
rs11702174
|
0.05344
|
NM_052845.4(MMAB):c.135-23T>C
|
rs66580225
|
0.05340
|
NM_025114.4(CEP290):c.442-19T>A
|
rs113132803
|
0.05334
|
NM_207361.6(FREM2):c.303C>A (p.Pro101=)
|
rs8002488
|
0.05332
|
NM_004006.3(DMD):c.4234-13A>G
|
rs41303181
|
0.05327
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_000371.4(TTR):c.76G>A (p.Gly26Ser)
|
rs1800458
|
0.05309
|
NM_002834.5(PTPN11):c.854-21C>T
|
rs41279090
|
0.05308
|
NM_005876.5(SPEG):c.4566G>A (p.Glu1522=)
|
rs45519033
|
0.05308
|
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)
|
rs6151415
|
0.05295
|
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)
|
rs17593
|
0.05293
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_006218.4(PIK3CA):c.1747-13T>C
|
rs41273619
|
0.05277
|
NM_207361.6(FREM2):c.5003G>A (p.Arg1668His)
|
rs1868463
|
0.05268
|
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val)
|
rs35858667
|
0.05256
|
NM_001256789.3(CACNA1F):c.41C>T (p.Pro14Leu)
|
rs6520408
|
0.05244
|
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=)
|
rs35139934
|
0.05241
|
NM_138694.4(PKHD1):c.8302+18A>G
|
rs12529717
|
0.05228
|
NM_000016.6(ACADM):c.-34T>C
|
rs59932454
|
0.05213
|
NM_000016.6(ACADM):c.119-20T>C
|
rs74090724
|
0.05208
|
NM_000016.6(ACADM):c.351A>C (p.Thr117=)
|
rs74090726
|
0.05204
|
NM_000283.4(PDE6B):c.915G>A (p.Thr305=)
|
rs75695239
|
0.05186
|
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser)
|
rs2303269
|
0.05170
|
NM_000512.5(GALNS):c.244+49C>T
|
rs13334220
|
0.05168
|
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)
|
rs73826339
|
0.05158
|
NM_001848.3(COL6A1):c.428+40G>A
|
rs71324475
|
0.05102
|
NM_207352.4(CYP4V2):c.327+11G>C
|
rs62350517
|
0.05079
|
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His)
|
rs34268261
|
0.05068
|
NM_014384.3(ACAD8):c.1093-22T>C
|
rs111405246
|
0.05027
|
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=)
|
rs62406036
|
0.05014
|
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)
|
rs62406032
|
0.05010
|
NM_001999.4(FBN2):c.5675-9del
|
rs112666443
|
0.05000
|
NM_004463.3(FGD1):c.-4G>C
|
rs147035080
|
0.04998
|
NM_006005.3(WFS1):c.1367G>A (p.Arg456His)
|
rs1801208
|
0.04977
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_001386140.1(MTTP):c.285G>C (p.Gln95His)
|
rs61733139
|
0.04959
|
NM_014384.3(ACAD8):c.706-21G>A
|
rs75844584
|
0.04957
|
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile)
|
rs9474034
|
0.04948
|
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln)
|
rs17679445
|
0.04944
|
NM_014384.3(ACAD8):c.841+7T>C
|
rs77368661
|
0.04943
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_021072.4(HCN1):c.1783+7dup
|
rs56154381
|
0.04936
|
NM_006005.3(WFS1):c.1023C>T (p.Phe341=)
|
rs56072215
|
0.04932
|
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln)
|
rs1800407
|
0.04917
|
NM_004456.5(EZH2):c.2110+6T>G
|
rs41277434
|
0.04917
|
NM_001004334.4(GPR179):c.1478= (p.His493=)
|
rs4550493
|
0.04915
|
NM_054012.4(ASS1):c.597+8C>T
|
rs77343702
|
0.04911
|
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=)
|
rs7868455
|
0.04901
|
NM_172250.3(MMAA):c.1089G>C (p.Gln363His)
|
rs2270655
|
0.04892
|
NM_005477.3(HCN4):c.2556G>A (p.Pro852=)
|
rs117819825
|
0.04888
|
NM_000535.7(PMS2):c.903+100T>G
|
rs12534423
|
0.04879
|
NM_000535.7(PMS2):c.903+84C>T
|
rs3815383
|
0.04877
|
NM_000203.5(IDUA):c.891C>T (p.Asn297=)
|
rs114806891
|
0.04874
|
NM_001039958.2(MESP2):c.531G>A (p.Ala177=)
|
rs75049807
|
0.04869
|
NM_000321.3(RB1):c.1390-14A>T
|
rs9535023
|
0.04866
|
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)
|
rs1801246
|
0.04852
|
NM_019109.5(ALG1):c.840G>C (p.Leu280=)
|
rs12921879
|
0.04852
|
NM_005334.3(HCFC1):c.1085-12G>A
|
rs3027893
|
0.04847
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_014384.3(ACAD8):c.1195+12C>T
|
rs75333832
|
0.04799
|
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile)
|
rs56142888
|
0.04798
|
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)
|
rs3219484
|
0.04794
|
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile)
|
rs35848863
|
0.04785
|
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr)
|
rs34165241
|
0.04781
|
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys)
|
rs1130183
|
0.04770
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_001918.5(DBT):c.1210-10T>A
|
rs183058253
|
0.04736
|
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=)
|
rs146811565
|
0.04735
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys)
|
rs35364374
|
0.04719
|
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly)
|
rs34694816
|
0.04715
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_032638.5(GATA2):c.564G>C (p.Thr188=)
|
rs34870876
|
0.04681
|
NM_031220.4(PITPNM3):c.1773+19C>T
|
rs9913373
|
0.04671
|
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=)
|
rs112173070
|
0.04668
|
NM_000540.3(RYR1):c.3858T>C (p.Leu1286=)
|
rs16972636
|
0.04660
|
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_000070.3(CAPN3):c.2380+12del
|
rs28364538
|
0.04623
|
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)
|
rs17113613
|
0.04615
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=)
|
rs12172926
|
0.04612
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_002863.5(PYGL):c.93T>C (p.Ser31=)
|
rs17123244
|
0.04608
|
NM_001244008.2(KIF1A):c.4319-8C>T
|
rs1529663
|
0.04602
|
NM_057176.3(BSND):c.127G>A (p.Val43Ile)
|
rs34561376
|
0.04587
|
NM_012418.4(FSCN2):c.1446C>T (p.Asp482=)
|
rs143561119
|
0.04578
|
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp)
|
rs61734651
|
0.04577
|
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=)
|
rs75833626
|
0.04561
|
NM_173660.5(DOK7):c.753G>A (p.Ala251=)
|
rs59932476
|
0.04559
|
NM_000512.5(GALNS):c.898+25C>G
|
rs113936280
|
0.04554
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)
|
rs113937803
|
0.04541
|
NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=)
|
rs61753881
|
0.04533
|
NM_005045.4(RELN):c.8136A>G (p.Leu2712=)
|
rs3808039
|
0.04529
|
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=)
|
rs72552065
|
0.04512
|
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met)
|
rs113831133
|
0.04508
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
NM_000512.5(GALNS):c.599C>T (p.Thr200Met)
|
rs7187889
|
0.04495
|
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn)
|
rs2661488
|
0.04490
|
NM_024757.5(EHMT1):c.129A>T (p.Ala43=)
|
rs76684726
|
0.04476
|
NM_000540.3(RYR1):c.10687-10C>T
|
rs77592501
|
0.04475
|
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu)
|
rs143090627
|
0.04452
|
NM_018297.4(NGLY1):c.132-14T>C
|
rs77109827
|
0.04444
|
NM_000277.3(PAH):c.1278T>C (p.Asn426=)
|
rs59326968
|
0.04425
|
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
|
rs1800315
|
0.04402
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
NM_001267550.2(TTN):c.26200+19A>T
|
rs2562837
|
0.04396
|
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)
|
rs58022607
|
0.04393
|
NM_000535.7(PMS2):c.2006+6G>A
|
rs111905775
|
0.04390
|
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=)
|
rs58465962
|
0.04390
|
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=)
|
rs2742332
|
0.04384
|
NM_000492.4(CFTR):c.-8G>C
|
rs1800501
|
0.04368
|
NM_005343.4(HRAS):c.111+15G>A
|
rs41258054
|
0.04363
|
NM_201384.3(PLEC):c.*19C>T
|
rs11997227
|
0.04358
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly)
|
rs34745339
|
0.04350
|
NM_000744.7(CHRNA4):c.1758+11C>T
|
rs45442394
|
0.04350
|
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)
|
rs34671418
|
0.04349
|
NM_001164508.2(NEB):c.20467-4T>A
|
rs199791504
|
0.04348
|
NM_001130987.2(DYSF):c.3575-17C>T
|
rs13421969
|
0.04340
|
NM_003482.4(KMT2D):c.10671A>G (p.Pro3557=)
|
rs61942218
|
0.04331
|
NM_000601.6(HGF):c.910G>A (p.Glu304Lys)
|
rs5745687
|
0.04328
|
NM_013382.7(POMT2):c.1891+49C>T
|
rs61990292
|
0.04323
|
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=)
|
rs16839515
|
0.04323
|
NM_000048.4(ASL):c.602+13C>T
|
rs12536292
|
0.04315
|
NM_000942.4(PPIB):c.-171C>T
|
rs112481305
|
0.04313
|
NM_003482.4(KMT2D):c.2438C>T (p.Pro813Leu)
|
rs75226229
|
0.04312
|
NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg)
|
rs2066522
|
0.04294
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04292
|
NM_004565.3(PEX14):c.1014C>T (p.Asp338=)
|
rs2128414
|
0.04291
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)
|
rs41309927
|
0.04225
|
NM_024757.5(EHMT1):c.642+38A>G
|
rs72766927
|
0.04225
|
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=)
|
rs41276710
|
0.04216
|
NM_001083961.2(WDR62):c.180G>A (p.Val60=)
|
rs61742664
|
0.04216
|
NM_052845.4(MMAB):c.288T>C (p.Ile96=)
|
rs62000414
|
0.04206
|
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=)
|
rs35959206
|
0.04188
|
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val)
|
rs77469944
|
0.04185
|
NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro)
|
rs72554624
|
0.04177
|
NM_001127511.3(APC):c.166-29015A>T
|
rs75581138
|
0.04169
|
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser)
|
rs41277194
|
0.04165
|
NM_001110556.2(FLNA):c.374-19G>A
|
rs2070817
|
0.04163
|
NM_001029896.2(WDR45):c.235+18G>T
|
rs55727094
|
0.04158
|
NM_002834.5(PTPN11):c.1093-9C>A
|
rs12301915
|
0.04151
|
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=)
|
rs74032864
|
0.04134
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_003482.4(KMT2D):c.14251+18T>C
|
rs74830946
|
0.04121
|
NM_033343.4(LHX4):c.450C>T (p.Asn150=)
|
rs16855642
|
0.04109
|
NM_001256789.3(CACNA1F):c.2673+3G>A
|
rs41312124
|
0.04106
|
NM_003482.4(KMT2D):c.14238G>A (p.Arg4746=)
|
rs75340924
|
0.04096
|
NM_001849.4(COL6A2):c.714+29G>A
|
rs11089047
|
0.04085
|
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=)
|
rs16916221
|
0.04084
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_004552.3(NDUFS5):c.*18G>A
|
rs6981
|
0.04078
|
NM_005045.4(RELN):c.1596G>A (p.Gln532=)
|
rs41276154
|
0.04078
|
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)
|
rs72648998
|
0.04075
|
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn)
|
rs3813243
|
0.04071
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr)
|
rs79444516
|
0.04057
|
NM_003816.3(ADAM9):c.78C>A (p.Val26=)
|
rs148707472
|
0.04055
|
NM_014208.3(DSPP):c.727G>A (p.Asp243Asn)
|
rs3750025
|
0.04053
|
NM_020223.4(FAM20C):c.1672C>T (p.Arg558Trp)
|
rs62644536
|
0.04053
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
NM_006302.3(MOGS):c.184G>A (p.Val62Met)
|
rs79181168
|
0.04027
|
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=)
|
rs1801247
|
0.04023
|
NM_000487.6(ARSA):c.1149C>T (p.Asp383=)
|
rs6151425
|
0.04013
|
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro)
|
rs2234256
|
0.04010
|
NM_000231.3(SGCG):c.703-18T>C
|
rs9580603
|
0.04002
|
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=)
|
rs77117049
|
0.03987
|
NM_198525.3(KIF7):c.-5T>G
|
rs62021460
|
0.03972
|
NM_006343.3(MERTK):c.61+19G>A
|
rs115821982
|
0.03962
|
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=)
|
rs75586449
|
0.03960
|
NM_139343.3(BIN1):c.894G>A (p.Ser298=)
|
rs2228955
|
0.03955
|
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn)
|
rs25414
|
0.03947
|
NM_012186.3(FOXE3):c.-14G>A
|
rs181190356
|
0.03946
|
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val)
|
rs1799980
|
0.03941
|
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)
|
rs16892095
|
0.03933
|
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)
|
rs3731752
|
0.03923
|
NM_000154.2(GALK1):c.189G>A (p.Leu63=)
|
rs7211385
|
0.03914
|
NM_002230.4(JUP):c.425G>A (p.Arg142His)
|
rs41283425
|
0.03910
|
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=)
|
rs9689306
|
0.03897
|
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
|
rs1805078
|
0.03877
|
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=)
|
rs41274330
|
0.03876
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_133379.5(TTN):c.15252T>C (p.Tyr5084=)
|
rs61233923
|
0.03860
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
NM_001035.3(RYR2):c.13564-41A>G
|
rs114289907
|
0.03849
|
NM_001165963.4(SCN1A):c.2176+17A>G
|
rs59251406
|
0.03846
|
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)
|
rs41281334
|
0.03832
|
NM_207391.3(RGS9BP):c.39C>G (p.Leu13=)
|
rs3826926
|
0.03826
|
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=)
|
rs16947296
|
0.03818
|
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=)
|
rs12742444
|
0.03814
|
NM_005422.4(TECTA):c.624+11C>G
|
rs73599492
|
0.03810
|
NM_005633.4(SOS1):c.195A>C (p.Arg65=)
|
rs7609455
|
0.03809
|
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val)
|
rs79854148
|
0.03803
|
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile)
|
rs1801160
|
0.03794
|
NM_020975.6(RET):c.2508C>T (p.Ser836=)
|
rs1800862
|
0.03791
|
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)
|
rs36031496
|
0.03789
|
NM_000275.3(OCA2):c.2244+18A>G
|
rs41304383
|
0.03776
|
NM_130837.3(OPA1):c.2778+11C>G
|
rs111688935
|
0.03759
|
NM_005045.4(RELN):c.8508C>T (p.Phe2836=)
|
rs2229862
|
0.03751
|
NM_001195263.2(PDZD7):c.3092G>A (p.Arg1031His)
|
rs72838683
|
0.03743
|
NM_000512.5(GALNS):c.846C>T (p.Phe282=)
|
rs35232749
|
0.03726
|
NM_201384.3(PLEC):c.718+10C>T
|
rs12545876
|
0.03717
|
NM_004715.5(CTDP1):c.1995G>A (p.Ala665=)
|
rs11549119
|
0.03715
|
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His)
|
rs62642465
|
0.03714
|
NM_003923.3(FOXH1):c.363G>C (p.Arg121=)
|
rs80356380
|
0.03705
|
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=)
|
rs1049800
|
0.03703
|
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
|
rs16866412
|
0.03700
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val)
|
rs74772299
|
0.03697
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_000512.5(GALNS):c.510T>C (p.Tyr170=)
|
rs3743544
|
0.03694
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)
|
rs1801439
|
0.03688
|
NM_002890.3(RASA1):c.1777-14T>A
|
rs36000817
|
0.03681
|
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=)
|
rs529326848
|
0.03671
|
NM_000543.5(SMPD1):c.714A>G (p.Ala238=)
|
rs2682091
|
0.03664
|
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr)
|
rs58836306
|
0.03656
|
NM_006493.4(CLN5):c.173+8C>T
|
rs9565308
|
0.03653
|
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
|
rs9014
|
0.03641
|
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys)
|
rs73038324
|
0.03639
|
NM_006765.4(TUSC3):c.798+36T>G
|
rs17474327
|
0.03638
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=)
|
rs2286128
|
0.03626
|
NM_000433.4(NCF2):c.606G>A (p.Ala202=)
|
rs17849501
|
0.03621
|
NM_152564.5(VPS13B):c.3667-7C>T
|
rs35543295
|
0.03607
|
NM_000433.4(NCF2):c.1167C>A (p.His389Gln)
|
rs17849502
|
0.03605
|
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)
|
rs1048719
|
0.03595
|
NM_017668.3(NDE1):c.948-5739G>A
|
rs34839877
|
0.03595
|
NM_005609.4(PYGM):c.1494C>T (p.Pro498=)
|
rs11231865
|
0.03592
|
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg)
|
rs35713889
|
0.03588
|
NM_006017.3(PROM1):c.228G>A (p.Leu76=)
|
rs76963591
|
0.03578
|
NM_000541.5(SAG):c.375+11C>T
|
rs74356516
|
0.03568
|
NM_012213.3(MLYCD):c.444C>T (p.Asp148=)
|
rs62640904
|
0.03566
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03565
|
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile)
|
rs2233070
|
0.03565
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
NM_144997.7(FLCN):c.1233G>A (p.Glu411=)
|
rs61750032
|
0.03557
|
NM_014028.4(OSTM1):c.207G>T (p.Gly69=)
|
rs80219951
|
0.03550
|
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=)
|
rs113012830
|
0.03541
|
NM_133642.5(LARGE1):c.1731-24T>C
|
rs73399532
|
0.03540
|
NM_007317.3(KIF22):c.-3G>A
|
rs144408025
|
0.03536
|
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)
|
rs293756
|
0.03533
|
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)
|
rs1669445
|
0.03530
|
NM_001378964.1(CDON):c.330T>C (p.Pro110=)
|
rs35131477
|
0.03518
|
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)
|
rs34598902
|
0.03505
|
NM_006031.6(PCNT):c.498A>G (p.Pro166=)
|
rs61735824
|
0.03505
|
NM_001277313.2(FMN1):c.2717C>T (p.Pro906Leu)
|
rs117804335
|
0.03499
|
NM_153676.4(USH1C):c.1770C>T (p.Ala590=)
|
rs17776775
|
0.03494
|
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=)
|
rs12014412
|
0.03486
|
NM_001189.4(NKX3-2):c.-10C>A
|
rs138460070
|
0.03470
|
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030
|
0.03470
|
NM_001278116.2(L1CAM):c.1268-10C>T
|
rs112841948
|
0.03467
|
NM_017775.4(TTC19):c.-15G>A
|
rs73276080
|
0.03466
|
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu)
|
rs28934585
|
0.03462
|
NM_001042697.2(ZSWIM7):c.76+17G>T
|
rs60636875
|
0.03461
|
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys)
|
rs16868974
|
0.03455
|
NM_001130987.2(DYSF):c.460+17G>C
|
rs115170960
|
0.03446
|
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)
|
rs17884724
|
0.03446
|
NM_001918.5(DBT):c.715A>G (p.Ile239Val)
|
rs72973763
|
0.03442
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
NM_002206.3(ITGA7):c.824G>A (p.Arg275His)
|
rs74867235
|
0.03438
|
NM_024312.5(GNPTAB):c.*43C>T
|
rs79089208
|
0.03438
|
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)
|
rs16978875
|
0.03433
|
NM_022489.4(INF2):c.1227G>T (p.Ser409=)
|
rs3809455
|
0.03433
|
NM_133379.5(TTN):c.15276G>A (p.Leu5092=)
|
rs72648910
|
0.03419
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
NM_001287.6(CLCN7):c.900G>A (p.Ala300=)
|
rs41286695
|
0.03405
|
NM_000245.4(MET):c.144G>A (p.Ala48=)
|
rs11762213
|
0.03399
|
NM_000071.3(CBS):c.317-46G>C
|
rs75873792
|
0.03396
|
NM_152419.3(HGSNAT):c.493+46G>T
|
rs72647302
|
0.03382
|
NM_001061.7(TBXAS1):c.1066C>G (p.Leu356Val)
|
rs4529
|
0.03380
|
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)
|
rs2230036
|
0.03373
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=)
|
rs1051153
|
0.03363
|
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)
|
rs34006675
|
0.03359
|
NM_002458.3(MUC5B):c.15817G>C (p.Ala5273Pro)
|
rs56123928
|
0.03357
|
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)
|
rs35898499
|
0.03355
|
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr)
|
rs45598239
|
0.03352
|
NM_000466.3(PEX1):c.473-18G>A
|
rs2066743
|
0.03344
|
NM_001349338.3(FOXP1):c.1147-19G>A
|
rs75214049
|
0.03317
|
NM_001130987.2(DYSF):c.951+39T>C
|
rs74384941
|
0.03312
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln)
|
rs2066518
|
0.03294
|
NM_000070.3(CAPN3):c.1029+3A>G
|
rs28364442
|
0.03285
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=)
|
rs74852641
|
0.03265
|
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=)
|
rs34904623
|
0.03265
|
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro)
|
rs35478150
|
0.03249
|
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)
|
rs35392229
|
0.03244
|
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)
|
rs17885864
|
0.03243
|
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=)
|
rs7262532
|
0.03235
|
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser)
|
rs45584033
|
0.03229
|
NM_002207.3(ITGA9):c.2667+32G>A
|
rs76424398
|
0.03226
|
NM_000540.3(RYR1):c.9555-13C>T
|
rs2960328
|
0.03214
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_001189.4(NKX3-2):c.429G>A (p.Ala143=)
|
rs10032202
|
0.03205
|
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=)
|
rs2242244
|
0.03204
|
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)
|
rs1266923
|
0.03202
|
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp)
|
rs6232
|
0.03201
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
NM_001123385.2(BCOR):c.1791C>T (p.His597=)
|
rs144606152
|
0.03194
|
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)
|
rs56142141
|
0.03191
|
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu)
|
rs111472069
|
0.03191
|
NM_130837.3(OPA1):c.1773A>C (p.Ala591=)
|
rs78767626
|
0.03184
|
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala)
|
rs1800516
|
0.03182
|
NM_001127255.2(NLRP7):c.1532A>G (p.Lys511Arg)
|
rs61743949
|
0.03179
|
NM_000051.4(ATM):c.1899-55T>G
|
rs4987951
|
0.03178
|
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)
|
rs41265017
|
0.03176
|
NM_000036.3(AMPD1):c.215+10G>A
|
rs6683173
|
0.03175
|
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=)
|
rs73406891
|
0.03175
|
NM_000153.4(GALC):c.330C>T (p.Asp110=)
|
rs11552556
|
0.03162
|
NM_003361.4(UMOD):c.-47T>C
|
rs75645968
|
0.03162
|
NM_006269.2(RP1):c.3699C>T (p.Ser1233=)
|
rs114557304
|
0.03129
|
NM_000142.5(FGFR3):c.588C>T (p.Arg196=)
|
rs2305180
|
0.03125
|
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu)
|
rs8177536
|
0.03119
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_000260.4(MYO7A):c.468C>T (p.Ile156=)
|
rs12420129
|
0.03116
|
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)
|
rs398124605
|
0.03116
|
NM_000540.3(RYR1):c.2871-5C>T
|
rs45585535
|
0.03110
|
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)
|
rs79691946
|
0.03108
|
NM_001453.3(FOXC1):c.405C>T (p.Cys135=)
|
rs2230096
|
0.03096
|
NM_022039.4(FBXW4):c.534C>G (p.Ala178=)
|
rs61761937
|
0.03084
|
NM_020751.3(COG6):c.1693-6A>T
|
rs78336861
|
0.03077
|
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn)
|
rs1132036
|
0.03072
|
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)
|
rs6999971
|
0.03071
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_001918.5(DBT):c.1281+31T>G
|
rs115696850
|
0.03046
|
NM_144672.4(OTOA):c.2229C>T (p.Ala743=)
|
rs461179
|
0.03046
|
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=)
|
rs114545322
|
0.03032
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03031
|
NM_001130987.2(DYSF):c.1577-1635C>G
|
rs76402294
|
0.03029
|
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=)
|
rs61741123
|
0.03029
|
NM_031433.4(MFRP):c.770G>A (p.Arg257His)
|
rs61736238
|
0.03023
|
NM_130839.5(UBE3A):c.477A>T (p.Ala159=)
|
rs28528079
|
0.03018
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_005996.4(TBX3):c.1126T>A (p.Ser376Thr)
|
rs78115331
|
0.03014
|
NM_014009.4(FOXP3):c.543C>T (p.Ser181=)
|
rs2232367
|
0.03006
|
NM_001848.3(COL6A1):c.2435-19C>T
|
rs115181427
|
0.03003
|
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val)
|
rs75792246
|
0.02993
|
NM_000038.6(APC):c.7704A>G (p.Gly2568=)
|
rs35043160
|
0.02992
|
NM_024312.5(GNPTAB):c.3602+8C>A
|
rs79493678
|
0.02992
|
NM_206933.4(USH2A):c.10836C>A (p.Val3612=)
|
rs61276761
|
0.02977
|
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)
|
rs1800278
|
0.02976
|
NM_153240.5(NPHP3):c.2571-7T>C
|
rs62292468
|
0.02974
|
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=)
|
rs11882640
|
0.02972
|
NM_018006.5(TRMU):c.10T>G (p.Leu4Val)
|
rs114302881
|
0.02970
|
NM_001369268.1(ACAN):c.1515G>A (p.Ala505=)
|
rs34957282
|
0.02963
|
NM_004369.4(COL6A3):c.6282+50C>T
|
rs73998889
|
0.02963
|
NM_001369268.1(ACAN):c.1850G>A (p.Arg617His)
|
rs34616796
|
0.02960
|
NM_001369268.1(ACAN):c.1530G>A (p.Pro510=)
|
rs34637731
|
0.02958
|
NM_001369268.1(ACAN):c.1866C>T (p.Cys622=)
|
rs35652696
|
0.02956
|
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe)
|
rs3741913
|
0.02955
|
NM_000330.4(RS1):c.184+3207C>T
|
rs35693326
|
0.02951
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val)
|
rs11628107
|
0.02936
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_001035.3(RYR2):c.1776A>T (p.Gly592=)
|
rs72549414
|
0.02926
|
NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=)
|
rs6349
|
0.02926
|
NM_144997.7(FLCN):c.726A>T (p.Thr242=)
|
rs113938514
|
0.02907
|
NM_005476.7(GNE):c.600C>T (p.Ile200=)
|
rs7047950
|
0.02902
|
NM_000096.4(CP):c.2554+17G>A
|
rs35593818
|
0.02896
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=)
|
rs34492894
|
0.02893
|
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val)
|
rs2230720
|
0.02889
|
NM_003060.4(SLC22A5):c.393+17G>A
|
rs11568522
|
0.02888
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
0.02876
|
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)
|
rs41305353
|
0.02876
|
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=)
|
rs11574911
|
0.02871
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_182894.3(VSX2):c.831G>A (p.Leu277=)
|
rs62006815
|
0.02860
|
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=)
|
rs61735853
|
0.02858
|
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu)
|
rs76868679
|
0.02854
|
NM_000295.5(SERPINA1):c.-10T>C
|
rs11558258
|
0.02837
|
NM_004183.4(BEST1):c.1023C>T (p.Pro341=)
|
rs1801390
|
0.02837
|
NM_000540.3(RYR1):c.5112C>T (p.Gly1704=)
|
rs35352076
|
0.02832
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)
|
rs28933977
|
0.02826
|
NM_002458.3(MUC5B):c.757G>A (p.Gly253Ser)
|
rs56179538
|
0.02825
|
NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile)
|
rs55971546
|
0.02814
|
NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr)
|
rs2228078
|
0.02812
|
NM_001122630.2(CDKN1C):c.-11+60G>A
|
rs143992355
|
0.02792
|
NM_000074.2(CD40LG):c.-191A>C
|
rs36206512
|
0.02791
|
NM_000155.4(GALT):c.876G>A (p.Thr292=)
|
rs1055607
|
0.02790
|
NM_020451.3(SELENON):c.981C>T (p.Arg327=)
|
rs147587542
|
0.02788
|
NM_001370259.2(MEN1):c.435C>T (p.Ser145=)
|
rs61736636
|
0.02784
|
NM_002024.6(FMR1):c.271-19A>G
|
rs29279
|
0.02783
|
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp)
|
rs2230178
|
0.02763
|
NM_194248.3(OTOF):c.158C>T (p.Ala53Val)
|
rs1879761
|
0.02762
|
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)
|
rs29281
|
0.02758
|
NM_003240.5(LEFTY2):c.774C>T (p.Thr258=)
|
rs149969900
|
0.02758
|
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly)
|
rs3750904
|
0.02756
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val)
|
rs28715870
|
0.02748
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His)
|
rs36092870
|
0.02734
|
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
|
rs33958626
|
0.02731
|
NM_018006.5(TRMU):c.9C>G (p.Ala3=)
|
rs75417986
|
0.02729
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
NM_000709.4(BCKDHA):c.996-6G>A
|
rs74586298
|
0.02713
|
NM_002637.4(PHKA1):c.429C>T (p.Leu143=)
|
rs138066694
|
0.02710
|
NM_006765.4(TUSC3):c.912G>A (p.Ser304=)
|
rs17121892
|
0.02710
|
NM_001848.3(COL6A1):c.1823-31C>T
|
rs117330552
|
0.02707
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_002294.3(LAMP2):c.927C>T (p.Ser309=)
|
rs73219144
|
0.02702
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02697
|
NM_000108.5(DLD):c.685-14T>A
|
rs80111449
|
0.02691
|
NM_000452.3(SLC10A2):c.505C>T (p.Leu169=)
|
rs41281678
|
0.02689
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn)
|
rs35881321
|
0.02685
|
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=)
|
rs61729843
|
0.02678
|
NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter)
|
rs3211938
|
0.02669
|
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu)
|
rs2295418
|
0.02669
|
NM_004369.4(COL6A3):c.882C>T (p.Phe294=)
|
rs7561625
|
0.02665
|
NM_001277313.2(FMN1):c.2826T>G (p.Pro942=)
|
rs74012406
|
0.02663
|
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu)
|
rs2721191
|
0.02663
|
NM_213599.3(ANO5):c.2521-13A>G
|
rs76850415
|
0.02660
|
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=)
|
rs74010762
|
0.02659
|
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala)
|
rs115066356
|
0.02657
|
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)
|
rs17103671
|
0.02649
|
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg)
|
rs79399438
|
0.02648
|
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=)
|
rs61735826
|
0.02642
|
NM_130837.3(OPA1):c.449-21A>G
|
rs75213840
|
0.02640
|
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala)
|
rs17081389
|
0.02639
|
NM_001130987.2(DYSF):c.239+31C>G
|
rs78958249
|
0.02626
|
NM_004369.4(COL6A3):c.6930+28C>T
|
rs72986111
|
0.02626
|
NM_004369.4(COL6A3):c.1313-17A>G
|
rs7579816
|
0.02624
|
NM_130837.3(OPA1):c.1035+37A>C
|
rs76253392
|
0.02623
|
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=)
|
rs34424371
|
0.02621
|
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His)
|
rs61737997
|
0.02621
|
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=)
|
rs34670662
|
0.02620
|
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn)
|
rs2229109
|
0.02618
|
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=)
|
rs140479803
|
0.02616
|
NM_000618.5(IGF1):c.*263T>A
|
rs70961704
|
0.02615
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
NM_000071.3(CBS):c.1467+38A>G
|
rs139077204
|
0.02609
|
NM_001206979.2(NR1H4):c.-1G>T
|
rs56163822
|
0.02608
|
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro)
|
rs28932179
|
0.02602
|
NM_000554.6(CRX):c.472G>A (p.Ala158Thr)
|
rs61748445
|
0.02598
|
NM_004369.4(COL6A3):c.5917+28G>C
|
rs73093737
|
0.02596
|
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)
|
rs8187801
|
0.02594
|
NM_007254.4(PNKP):c.1189-10del
|
rs3739205
|
0.02593
|
NM_004006.3(DMD):c.31+292A>C
|
rs114046794
|
0.02592
|
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr)
|
rs61729471
|
0.02583
|
NM_000101.4(CYBA):c.381T>C (p.Arg127=)
|
rs12123
|
0.02582
|
NM_001852.4(COL9A2):c.1288-12C>T
|
rs77695700
|
0.02575
|
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)
|
rs77293072
|
0.02574
|
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn)
|
rs1801334
|
0.02570
|
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala)
|
rs28414606
|
0.02568
|
NM_000283.4(PDE6B):c.384C>T (p.Ser128=)
|
rs28510278
|
0.02567
|
NM_004006.3(DMD):c.2623-11C>G
|
rs1028360
|
0.02567
|
NM_024740.2(ALG9):c.406-7C>T
|
rs45574638
|
0.02566
|
NM_000153.4(GALC):c.397T>C (p.Leu133=)
|
rs56194647
|
0.02565
|
NM_001848.3(COL6A1):c.1273-8C>T
|
rs7280215
|
0.02565
|
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=)
|
rs117054456
|
0.02550
|
NM_014956.5(CEP164):c.1430A>G (p.His477Arg)
|
rs117083334
|
0.02549
|
NM_020223.4(FAM20C):c.1652G>A (p.Arg551His)
|
rs150231592
|
0.02546
|
NM_001278116.2(L1CAM):c.197+17G>A
|
rs5987174
|
0.02545
|
NM_001035.3(RYR2):c.8437-7dup
|
rs148246251
|
0.02544
|
NM_012448.4(STAT5B):c.1101C>A (p.Pro367=)
|
rs61749920
|
0.02543
|
NM_206965.2(FTCD):c.452A>T (p.Lys151Met)
|
rs116089237
|
0.02538
|
NM_022464.5(SIL1):c.1029+6T>C
|
rs57028146
|
0.02536
|
NM_001323289.2(CDKL5):c.555-19C>G
|
rs75057928
|
0.02527
|
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val)
|
rs17883456
|
0.02527
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02522
|
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu)
|
rs3765310
|
0.02518
|
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=)
|
rs55776396
|
0.02513
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)
|
rs34717730
|
0.02506
|
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg)
|
rs114619322
|
0.02505
|
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)
|
rs114234874
|
0.02502
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile)
|
rs73675469
|
0.02491
|
NM_000214.3(JAG1):c.270G>T (p.Gly90=)
|
rs114048678
|
0.02490
|
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)
|
rs34836829
|
0.02488
|
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=)
|
rs140406501
|
0.02486
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr)
|
rs1805021
|
0.02481
|
NM_004606.5(TAF1):c.808C>G (p.Leu270Val)
|
rs28382158
|
0.02479
|
NM_002335.4(LRP5):c.4000+10T>A
|
rs116068042
|
0.02476
|
NM_001277313.2(FMN1):c.2652A>G (p.Gly884=)
|
rs61739379
|
0.02473
|
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=)
|
rs3751845
|
0.02471
|
NM_005634.3(SOX3):c.609T>C (p.Tyr203=)
|
rs45586631
|
0.02470
|
NM_006208.3(ENPP1):c.-10C>T
|
rs750410843
|
0.02463
|
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)
|
rs34885252
|
0.02454
|
NM_004006.3(DMD):c.-8T>A
|
rs113726961
|
0.02450
|
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro)
|
rs80132640
|
0.02449
|
NM_005634.3(SOX3):c.127G>A (p.Ala43Thr)
|
rs73637709
|
0.02446
|
NM_001130987.2(DYSF):c.4222-20G>A
|
rs111935215
|
0.02442
|
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=)
|
rs148616993
|
0.02438
|
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)
|
rs11539201
|
0.02438
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)
|
rs61884288
|
0.02435
|
NM_000441.2(SLC26A4):c.1708-18T>A
|
rs55701254
|
0.02432
|
NM_000143.4(FH):c.927G>A (p.Pro309=)
|
rs61737760
|
0.02428
|
NM_003482.4(KMT2D):c.5467+19A>C
|
rs78764337
|
0.02428
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
NM_000487.6(ARSA):c.243C>T (p.Gly81=)
|
rs6151410
|
0.02425
|
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=)
|
rs77214077
|
0.02424
|
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln)
|
rs55865069
|
0.02422
|
NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg)
|
rs4646832
|
0.02421
|
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=)
|
rs8064573
|
0.02419
|
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro)
|
rs1046088
|
0.02418
|
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=)
|
rs111841420
|
0.02418
|
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala)
|
rs34712643
|
0.02415
|
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=)
|
rs9341247
|
0.02411
|
NM_130837.3(OPA1):c.629C>T (p.Ala210Val)
|
rs34307082
|
0.02411
|
NM_003839.4(TNFRSF11A):c.75+5G>A
|
rs146553439
|
0.02406
|
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=)
|
rs11905235
|
0.02405
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
NM_001429.4(EP300):c.2131+18T>A
|
rs9611506
|
0.02398
|
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr)
|
rs117078377
|
0.02396
|
NM_000157.4(GBA1):c.38A>G (p.Lys13Arg)
|
rs150466109
|
0.02394
|
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser)
|
rs112028242
|
0.02391
|
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly)
|
rs1805020
|
0.02391
|
NM_018297.4(NGLY1):c.-8G>A
|
rs1488996
|
0.02385
|
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu)
|
rs111033183
|
0.02384
|
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)
|
rs111033266
|
0.02380
|
NM_003383.5(VLDLR):c.24G>A (p.Ala8=)
|
rs34336270
|
0.02372
|
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro)
|
rs61737142
|
0.02370
|
NM_001277313.2(FMN1):c.2462A>G (p.Lys821Arg)
|
rs61732708
|
0.02366
|
NM_001200.4(BMP2):c.109T>G (p.Ser37Ala)
|
rs2273073
|
0.02358
|
NM_001371986.1(UNC80):c.672C>T (p.Pro224=)
|
rs76851741
|
0.02348
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)
|
rs10040427
|
0.02340
|
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)
|
rs56079734
|
0.02335
|
NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser)
|
rs7190372
|
0.02335
|
NM_133642.5(LARGE1):c.576C>T (p.Pro192=)
|
rs36002910
|
0.02334
|
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)
|
rs41311343
|
0.02332
|
NM_201384.3(PLEC):c.5316G>A (p.Ala1772=)
|
rs62642466
|
0.02329
|
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg)
|
rs79134187
|
0.02323
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_182914.3(SYNE2):c.12840+8T>C
|
rs145218296
|
0.02317
|
NM_207391.3(RGS9BP):c.668C>T (p.Ala223Val)
|
rs35413309
|
0.02313
|
NM_130839.5(UBE3A):c.373T>C (p.Leu125=)
|
rs61734190
|
0.02311
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=)
|
rs117560775
|
0.02306
|
NM_145861.4(EDARADD):c.60G>A (p.Glu20=)
|
rs60808129
|
0.02304
|
NM_000455.5(STK11):c.264C>A (p.Ile88=)
|
rs56354945
|
0.02303
|
NM_020451.3(SELENON):c.42C>T (p.Pro14=)
|
rs187960531
|
0.02295
|
NM_000088.3(COL1A1):c.-161C>T
|
rs113647555
|
0.02290
|
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=)
|
rs17722227
|
0.02289
|
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=)
|
rs12373107
|
0.02286
|
NM_000142.5(FGFR3):c.615+8C>G
|
rs17878375
|
0.02283
|
NM_203475.3(PORCN):c.633C>T (p.Gly211=)
|
rs35018140
|
0.02273
|
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu)
|
rs139996942
|
0.02272
|
NM_002834.5(PTPN11):c.255C>T (p.His85=)
|
rs61736914
|
0.02271
|
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg)
|
rs3812951
|
0.02265
|
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile)
|
rs76889468
|
0.02262
|
NM_000455.5(STK11):c.734+41T>C
|
rs115624397
|
0.02258
|
NM_198253.3(TERT):c.835G>A (p.Ala279Thr)
|
rs61748181
|
0.02258
|
NM_203475.3(PORCN):c.1158G>A (p.Ser386=)
|
rs34252975
|
0.02254
|
NM_001029883.3(PCARE):c.2889C>T (p.Ser963=)
|
rs144569618
|
0.02252
|
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=)
|
rs35021937
|
0.02251
|
NM_024312.5(GNPTAB):c.1612+28T>C
|
rs74389509
|
0.02246
|
NM_024312.5(GNPTAB):c.3693+10A>T
|
rs76021817
|
0.02246
|
NM_000017.4(ACADS):c.*5G>A
|
rs2229533
|
0.02244
|
NM_025136.4(OPA3):c.-38A>G
|
rs45527139
|
0.02241
|
NM_015340.4(LARS2):c.972C>A (p.His324Gln)
|
rs71645922
|
0.02237
|
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=)
|
rs185512321
|
0.02235
|
NM_001854.4(COL11A1):c.1944+11T>C
|
rs71664954
|
0.02235
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02232
|
NM_000337.6(SGCD):c.700-19T>C
|
rs80086857
|
0.02231
|
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)
|
rs41304083
|
0.02229
|
NM_133378.4(TTN):c.93062-10T>C
|
rs202214630
|
0.02222
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_198525.3(KIF7):c.1444-4A>G
|
rs112333674
|
0.02204
|
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)
|
rs11913417
|
0.02196
|
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)
|
rs2229420
|
0.02193
|
NM_000019.4(ACAT1):c.-15C>G
|
rs113348145
|
0.02192
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
NM_000101.4(CYBA):c.480G>A (p.Pro160=)
|
rs72547284
|
0.02182
|
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr)
|
rs78247455
|
0.02182
|
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr)
|
rs17825668
|
0.02180
|
NM_024009.3(GJB3):c.94C>T (p.Arg32Trp)
|
rs1805063
|
0.02177
|
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly)
|
rs79514677
|
0.02177
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=)
|
rs7279254
|
0.02172
|
NM_030665.4(RAI1):c.264G>A (p.Gln88=)
|
rs61999281
|
0.02170
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=)
|
rs45613041
|
0.02154
|
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)
|
rs11910483
|
0.02152
|
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu)
|
rs3810948
|
0.02150
|
NM_000540.3(RYR1):c.11908-14A>G
|
rs2292799
|
0.02149
|
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)
|
rs77298332
|
0.02147
|
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)
|
rs4802584
|
0.02143
|
NM_000287.4(PEX6):c.207C>T (p.Pro69=)
|
rs11539736
|
0.02141
|
NM_000540.3(RYR1):c.11260-19T>G
|
rs4802583
|
0.02140
|
NM_147127.5(EVC2):c.3557+10G>A
|
rs116218656
|
0.02138
|
NM_000016.6(ACADM):c.489T>G (p.Pro163=)
|
rs78392995
|
0.02136
|
NM_002024.6(FMR1):c.801+31C>T
|
rs150724379
|
0.02121
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
NM_000098.3(CPT2):c.511C>T (p.Leu171=)
|
rs2229292
|
0.02118
|
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)
|
rs35343172
|
0.02118
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
NM_005634.3(SOX3):c.732A>C (p.Ala244=)
|
rs45451393
|
0.02113
|
NM_133433.4(NIPBL):c.4421+7A>G
|
rs76297333
|
0.02109
|
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu)
|
rs10067636
|
0.02108
|
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=)
|
rs34340053
|
0.02105
|
NM_020433.5(JPH2):c.1289-7C>T
|
rs116986535
|
0.02105
|
NM_133433.4(NIPBL):c.4561-9T>A
|
rs79924167
|
0.02103
|
NM_000144.5(FXN):c.-7G>A
|
rs145006100
|
0.02101
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
rs57605939
|
0.02101
|
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)
|
rs16050
|
0.02098
|
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)
|
rs41277797
|
0.02093
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_000551.4(VHL):c.341-37G>A
|
rs115744107
|
0.02087
|
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
|
rs16990264
|
0.02084
|
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro)
|
rs372125621
|
0.02081
|
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)
|
rs2303607
|
0.02075
|
NM_012418.4(FSCN2):c.453C>T (p.Tyr151=)
|
rs73367596
|
0.02072
|
NM_001849.4(COL6A2):c.116-34G>A
|
rs117154313
|
0.02070
|
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)
|
rs2230179
|
0.02069
|
NM_002206.3(ITGA7):c.2433-5G>A
|
rs79745402
|
0.02069
|
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)
|
rs61750129
|
0.02065
|
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)
|
rs1800574
|
0.02065
|
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=)
|
rs182192729
|
0.02065
|
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)
|
rs13879
|
0.02053
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
NM_002890.3(RASA1):c.296C>T (p.Ala99Val)
|
rs111840875
|
0.02050
|
NM_006059.4(LAMC3):c.92G>T (p.Arg31Leu)
|
rs116259120
|
0.02047
|
NM_000180.4(GUCY2D):c.3225-7C>T
|
rs79887212
|
0.02045
|
NM_013382.7(POMT2):c.1007-32G>A
|
rs79509556
|
0.02044
|
NM_005045.4(RELN):c.26A>C (p.Gln9Pro)
|
rs115165703
|
0.02037
|
NM_054012.4(ASS1):c.688+4T>C
|
rs78432485
|
0.02036
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser)
|
rs34934127
|
0.02035
|
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=)
|
rs142351773
|
0.02033
|
NM_001165963.4(SCN1A):c.1662+9C>A
|
rs7559148
|
0.02030
|
NM_001177316.2(SLC34A3):c.756+9G>A
|
rs4076685
|
0.02016
|
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)
|
rs41312104
|
0.02014
|
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)
|
rs3731249
|
0.02007
|
NM_007137.5(ZNF81):c.181+8C>T
|
rs11091216
|
0.02004
|
NM_000179.3(MSH6):c.2253T>C (p.Asn751=)
|
rs2020913
|
0.02003
|
NM_001035.3(RYR2):c.11557+19C>T
|
rs113408406
|
0.01994
|
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His)
|
rs3813245
|
0.01993
|
NM_139058.3(ARX):c.1347C>T (p.Gly449=)
|
rs75489697
|
0.01993
|
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala)
|
rs56018860
|
0.01992
|
NM_001267550.2(TTN):c.91852+8T>A
|
rs56145100
|
0.01992
|
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)
|
rs3731745
|
0.01991
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01991
|
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser)
|
rs3813246
|
0.01989
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01985
|
NM_002435.3(MPI):c.684C>T (p.Asn228=)
|
rs139190144
|
0.01985
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01984
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=)
|
rs111924728
|
0.01973
|
NM_000512.5(GALNS):c.318C>T (p.Asn106=)
|
rs34278797
|
0.01971
|
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=)
|
rs10404506
|
0.01970
|
NM_006514.4(SCN10A):c.4710G>A (p.Thr1570=)
|
rs78425180
|
0.01966
|
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)
|
rs2960319
|
0.01964
|
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp)
|
rs2032892
|
0.01962
|
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)
|
rs35902696
|
0.01962
|
NM_006915.3(RP2):c.844C>T (p.Arg282Trp)
|
rs1805147
|
0.01957
|
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)
|
rs72648950
|
0.01956
|
NM_000154.2(GALK1):c.611+34G>A
|
rs76743658
|
0.01955
|
NM_000337.6(SGCD):c.295-40T>A
|
rs74571343
|
0.01950
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
NM_005802.5(TOPORS):c.58C>T (p.Pro20Ser)
|
rs112527210
|
0.01946
|
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)
|
rs117781224
|
0.01941
|
NM_003482.4(KMT2D):c.8091C>T (p.Arg2697=)
|
rs116686402
|
0.01940
|
NM_001098671.2(RASGRP2):c.1592-3C>A
|
rs75902820
|
0.01934
|
NM_000138.5(FBN1):c.1960+30G>A
|
rs25459
|
0.01932
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_005045.4(RELN):c.7110T>C (p.Val2370=)
|
rs362746
|
0.01926
|
NM_001100.4(ACTA1):c.996C>A (p.Ile332=)
|
rs74897770
|
0.01920
|
NM_133642.5(LARGE1):c.309C>T (p.Ser103=)
|
rs59349720
|
0.01920
|
NM_001429.4(EP300):c.1283-8T>C
|
rs76827562
|
0.01914
|
NM_001429.4(EP300):c.942C>T (p.Gly314=)
|
rs20553
|
0.01913
|
NM_138694.4(PKHD1):c.5236+14A>G
|
rs12210725
|
0.01912
|
NM_017780.4(CHD7):c.2124T>C (p.Ser708=)
|
rs79302359
|
0.01911
|
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=)
|
rs16926499
|
0.01905
|
NM_133433.4(NIPBL):c.4240-14T>G
|
rs298972
|
0.01903
|
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=)
|
rs75060573
|
0.01901
|
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)
|
rs75909145
|
0.01900
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met)
|
rs36064831
|
0.01896
|
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)
|
rs111033381
|
0.01895
|
NM_000335.5(SCN5A):c.482+16G>C
|
rs41312949
|
0.01894
|
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu)
|
rs111230322
|
0.01893
|
NM_002381.5(MATN3):c.187T>G (p.Ser63Ala)
|
rs3816644
|
0.01892
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=)
|
rs55859427
|
0.01886
|
NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu)
|
rs11669191
|
0.01884
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
NM_153252.5(BRWD3):c.813+10G>C
|
rs55824836
|
0.01875
|
NM_194318.4(B3GLCT):c.271-12T>C
|
rs117111131
|
0.01874
|
NM_002381.5(MATN3):c.754G>A (p.Glu252Lys)
|
rs52826764
|
0.01868
|
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)
|
rs61751557
|
0.01860
|
NM_000168.6(GLI3):c.2835G>C (p.Leu945=)
|
rs61758978
|
0.01858
|
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)
|
rs73399520
|
0.01853
|
NM_004183.4(BEST1):c.201G>C (p.Leu67=)
|
rs1801393
|
0.01850
|
NM_004562.3(PRKN):c.574A>C (p.Met192Leu)
|
rs9456735
|
0.01850
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=)
|
rs2303298
|
0.01844
|
NM_000095.3(COMP):c.511G>A (p.Ala171Thr)
|
rs115338183
|
0.01840
|
NM_020451.3(SELENON):c.1387+11C>T
|
rs59653066
|
0.01839
|
NM_001039348.3(EFEMP1):c.387A>G (p.Glu129=)
|
rs14282
|
0.01837
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_030973.4(MED25):c.165G>A (p.Thr55=)
|
rs77400039
|
0.01828
|
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=)
|
rs35993209
|
0.01827
|
NM_000100.4(CSTB):c.15G>T (p.Ala5=)
|
rs4533
|
0.01826
|
NM_153240.5(NPHP3):c.864T>A (p.Thr288=)
|
rs147932449
|
0.01825
|
NM_004369.4(COL6A3):c.3071-16G>A
|
rs73998896
|
0.01822
|
NM_004369.4(COL6A3):c.7668+21G>C
|
rs11897148
|
0.01818
|
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg)
|
rs141735624
|
0.01817
|
NM_000346.4(SOX9):c.1113G>A (p.Ala371=)
|
rs929651
|
0.01816
|
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=)
|
rs35763271
|
0.01816
|
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)
|
rs80193928
|
0.01815
|
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly)
|
rs78599355
|
0.01806
|
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser)
|
rs185987427
|
0.01804
|
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=)
|
rs55916120
|
0.01802
|
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)
|
rs74922060
|
0.01800
|
NM_014249.4(NR2E3):c.1095C>T (p.Pro365=)
|
rs35004053
|
0.01800
|
NM_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met)
|
rs34293591
|
0.01793
|
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met)
|
rs55909005
|
0.01791
|
NM_173660.5(DOK7):c.-6C>G
|
rs191800156
|
0.01785
|
NM_000181.4(GUSB):c.-12G>A
|
rs2279903
|
0.01784
|
NM_000719.7(CACNA1C):c.5680+15C>T
|
rs114036394
|
0.01782
|
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)
|
rs8069375
|
0.01781
|
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met)
|
rs71581787
|
0.01778
|
NM_006486.3(FBLN1):c.2084A>G (p.His695Arg)
|
rs13268
|
0.01778
|
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe)
|
rs2163649
|
0.01776
|
NM_000430.4(PAFAH1B1):c.672-10A>C
|
rs77153143
|
0.01770
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
NM_001008216.2(GALE):c.709+14C>G
|
rs6692104
|
0.01759
|
NM_000440.3(PDE6A):c.998+11C>T
|
rs75319698
|
0.01758
|
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)
|
rs34162630
|
0.01756
|
NM_000142.5(FGFR3):c.348C>T (p.Arg116=)
|
rs2305179
|
0.01752
|
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)
|
rs16029
|
0.01749
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
NM_022124.6(CDH23):c.2424G>A (p.Gly808=)
|
rs76601590
|
0.01745
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_020549.5(CHAT):c.-17G>A
|
rs77152496
|
0.01739
|
NM_000089.4(COL1A2):c.82-12A>G
|
rs143689469
|
0.01736
|
NM_001370658.1(BTD):c.-94C>T
|
rs114567021
|
0.01730
|
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=)
|
rs34997144
|
0.01727
|
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)
|
rs3027928
|
0.01726
|
NM_001145809.2(MYH14):c.3468-3C>T
|
rs78192108
|
0.01724
|
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=)
|
rs12218559
|
0.01724
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
NM_012418.4(FSCN2):c.381G>A (p.Pro127=)
|
rs34454351
|
0.01717
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_005996.4(TBX3):c.1173G>C (p.Ala391=)
|
rs146589414
|
0.01711
|
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=)
|
rs111305262
|
0.01710
|
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=)
|
rs75985315
|
0.01708
|
NM_004183.4(BEST1):c.618G>A (p.Leu206=)
|
rs62641693
|
0.01704
|
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)
|
rs74653691
|
0.01704
|
NM_001429.4(EP300):c.2499G>A (p.Ser833=)
|
rs35560602
|
0.01700
|
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=)
|
rs5987173
|
0.01697
|
NM_000795.4(DRD2):c.932C>G (p.Ser311Cys)
|
rs1801028
|
0.01696
|
NM_032119.4(ADGRV1):c.-98G>A
|
rs7706355
|
0.01695
|
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)
|
rs2229995
|
0.01693
|
NM_005476.7(GNE):c.1770C>T (p.Tyr590=)
|
rs111302956
|
0.01688
|
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)
|
rs35984374
|
0.01679
|
NM_004006.3(DMD):c.832-17C>A
|
rs72470514
|
0.01678
|
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=)
|
rs56270948
|
0.01676
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_006201.5(CDK16):c.793-5C>T
|
rs41305363
|
0.01675
|
NM_002076.4(GNS):c.459+14T>C
|
rs78614637
|
0.01673
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_001039141.3(TRIOBP):c.1740C>A (p.Ala580=)
|
rs79945262
|
0.01670
|
NM_006201.5(CDK16):c.-6-279C>T
|
rs17550472
|
0.01668
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_207391.3(RGS9BP):c.696G>A (p.Ala232=)
|
rs150936907
|
0.01663
|
NM_004473.4(FOXE1):c.846G>A (p.Ala282=)
|
rs142235457
|
0.01662
|
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=)
|
rs41280800
|
0.01658
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)
|
rs5742912
|
0.01653
|
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser)
|
rs114376238
|
0.01651
|
NM_144997.7(FLCN):c.872-13A>G
|
rs114970273
|
0.01651
|
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)
|
rs78775072
|
0.01647
|
NM_001042413.2(GLIS3):c.1536C>A (p.Asp512Glu)
|
rs148199056
|
0.01645
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)
|
rs62145939
|
0.01642
|
NM_015102.5(NPHP4):c.1611+9C>T
|
rs114900019
|
0.01637
|
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=)
|
rs28657061
|
0.01636
|
NM_003923.3(FOXH1):c.1077G>A (p.Leu359=)
|
rs7833404
|
0.01634
|
NM_001100.4(ACTA1):c.129+31C>A
|
rs144658220
|
0.01631
|
NM_004006.3(DMD):c.5724T>C (p.Asp1908=)
|
rs143159113
|
0.01630
|
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)
|
rs3007419
|
0.01628
|
NM_033337.3(CAV3):c.171G>A (p.Val57=)
|
rs61147808
|
0.01628
|
NM_005634.3(SOX3):c.307C>A (p.Pro103Thr)
|
rs201101913
|
0.01624
|
NM_001876.4(CPT1A):c.967+3G>A
|
rs75677837
|
0.01623
|
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser)
|
rs56218010
|
0.01619
|
NM_182894.3(VSX2):c.871G>A (p.Asp291Asn)
|
rs75395981
|
0.01619
|
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp)
|
rs35289681
|
0.01618
|
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile)
|
rs34773557
|
0.01615
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)
|
rs4986888
|
0.01612
|
NM_015102.5(NPHP4):c.279+47T>G
|
rs115690090
|
0.01612
|
NM_031433.4(MFRP):c.355A>G (p.Ile119Val)
|
rs4639950
|
0.01611
|
NM_002458.3(MUC5B):c.4389C>T (p.Thr1463=)
|
rs139153751
|
0.01608
|
NM_012418.4(FSCN2):c.333C>T (p.Phe111=)
|
rs117946784
|
0.01608
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser)
|
rs79760961
|
0.01604
|
NM_000543.5(SMPD1):c.807C>T (p.Ala269=)
|
rs35933246
|
0.01598
|
NM_000275.3(OCA2):c.1113C>T (p.Gly371=)
|
rs1800405
|
0.01593
|
NM_004004.6(GJB2):c.-15C>T
|
rs72561725
|
0.01589
|
NM_020365.5(EIF2B3):c.1202+8T>G
|
rs77068026
|
0.01589
|
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=)
|
rs34419050
|
0.01584
|
NM_194318.4(B3GLCT):c.672C>T (p.Tyr224=)
|
rs35019745
|
0.01584
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
NM_001848.3(COL6A1):c.1524+15G>A
|
rs116000285
|
0.01582
|
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser)
|
rs74053349
|
0.01580
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
NM_000271.5(NPC1):c.1947+14G>T
|
rs3745024
|
0.01574
|
NM_001368397.1(FRMPD4):c.3765C>T (p.Gly1255=)
|
rs112904131
|
0.01569
|
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys)
|
rs113488591
|
0.01568
|
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)
|
rs2230158
|
0.01567
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_001614.5(ACTG1):c.729C>T (p.Pro243=)
|
rs2230159
|
0.01563
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser)
|
rs17480245
|
0.01560
|
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=)
|
rs115594471
|
0.01560
|
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly)
|
rs41288773
|
0.01560
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_012301.4(MAGI2):c.1755C>T (p.Pro585=)
|
rs34937835
|
0.01550
|
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val)
|
rs12481791
|
0.01548
|
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)
|
rs80356578
|
0.01544
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=)
|
rs61729627
|
0.01533
|
NM_000843.4(GRM6):c.1956C>T (p.Ala652=)
|
rs62638621
|
0.01532
|
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)
|
rs9924241
|
0.01528
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
NM_012448.4(STAT5B):c.993G>A (p.Thr331=)
|
rs59491077
|
0.01527
|
NM_004369.4(COL6A3):c.6157-16G>A
|
rs112637114
|
0.01524
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_001171.6(ABCC6):c.3507-3C>T
|
rs41278172
|
0.01517
|
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu)
|
rs7023652
|
0.01515
|
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val)
|
rs72552054
|
0.01514
|
NM_006306.4(SMC1A):c.412-10C>T
|
rs149219651
|
0.01511
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_004006.3(DMD):c.3705C>T (p.Ala1235=)
|
rs143628111
|
0.01510
|
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=)
|
rs12218564
|
0.01509
|
NM_004006.3(DMD):c.832-18C>G
|
rs72470515
|
0.01505
|
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)
|
rs74034910
|
0.01504
|
NM_014927.5(CNKSR2):c.651A>G (p.Gln217=)
|
rs77732468
|
0.01503
|
NM_023110.3(FGFR1):c.2187-6C>T
|
rs4647904
|
0.01503
|
NM_000271.5(NPC1):c.2514+6C>T
|
rs73392120
|
0.01501
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=)
|
rs130003
|
0.01499
|
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
|
rs17125721
|
0.01497
|
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu)
|
rs28743021
|
0.01496
|
NM_004006.3(DMD):c.4344+17A>T
|
rs72468646
|
0.01496
|
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys)
|
rs115371819
|
0.01496
|
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=)
|
rs77533254
|
0.01496
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_001379081.2(FREM1):c.4466G>A (p.Arg1489Gln)
|
rs61732355
|
0.01493
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile)
|
rs73302195
|
0.01486
|
NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu)
|
rs76076446
|
0.01485
|
NM_032322.4(RNF135):c.344G>A (p.Arg115Lys)
|
rs111902263
|
0.01483
|
NM_000523.4(HOXD13):c.393C>T (p.Phe131=)
|
rs847195
|
0.01482
|
NM_000290.4(PGAM2):c.216C>T (p.Asp72=)
|
rs111656877
|
0.01481
|
NM_000124.4(ERCC6):c.528A>G (p.Arg176=)
|
rs4253027
|
0.01480
|
NM_017617.5(NOTCH1):c.*6G>A
|
rs73668310
|
0.01480
|
NM_005802.5(TOPORS):c.2245A>G (p.Asn749Asp)
|
rs17857515
|
0.01479
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_002693.3(POLG):c.128A>G (p.Gln43Arg)
|
rs28567406
|
0.01478
|
NM_001277313.2(FMN1):c.2374G>A (p.Asp792Asn)
|
rs61736694
|
0.01476
|
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=)
|
rs111744086
|
0.01476
|
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln)
|
rs61995925
|
0.01476
|
NM_001278116.2(L1CAM):c.1704-14C>T
|
rs140240430
|
0.01472
|
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
|
rs74874677
|
0.01472
|
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)
|
rs2229291
|
0.01469
|
NM_005676.5(RBM10):c.1269T>C (p.Gly423=)
|
rs143203694
|
0.01463
|
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met)
|
rs35737219
|
0.01462
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)
|
rs79079368
|
0.01455
|
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met)
|
rs113513807
|
0.01455
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
NM_000492.4(CFTR):c.*1043A>C
|
rs10234329
|
0.01452
|
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=)
|
rs61745362
|
0.01450
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_144997.7(FLCN):c.1176+31G>A
|
rs41340844
|
0.01448
|
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln)
|
rs17121464
|
0.01447
|
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile)
|
rs61731383
|
0.01447
|
NM_020822.3(KCNT1):c.3502+16G>A
|
rs112116686
|
0.01447
|
NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys)
|
rs78861628
|
0.01447
|
NM_001379270.1(CNGA1):c.300A>G (p.Glu100=)
|
rs76061451
|
0.01445
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_001277313.2(FMN1):c.2929G>A (p.Glu977Lys)
|
rs150962800
|
0.01444
|
NM_000404.4(GLB1):c.1824G>C (p.Leu608=)
|
rs77226678
|
0.01441
|
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)
|
rs35242963
|
0.01438
|
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)
|
rs12493789
|
0.01436
|
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=)
|
rs7971022
|
0.01436
|
NM_006005.3(WFS1):c.9C>T (p.Ser3=)
|
rs71524363
|
0.01435
|
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp)
|
rs16844470
|
0.01433
|
NM_000275.3(OCA2):c.1844A>G (p.His615Arg)
|
rs1800414
|
0.01432
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser)
|
rs61745888
|
0.01420
|
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
|
rs2279252
|
0.01416
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_173660.5(DOK7):c.1143C>T (p.Pro381=)
|
rs56769879
|
0.01415
|
NM_139343.3(BIN1):c.1362G>T (p.Gly454=)
|
rs61748155
|
0.01414
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=)
|
rs116888435
|
0.01403
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
NM_002471.4(MYH6):c.3979-7del
|
rs397516766
|
0.01401
|
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala)
|
rs566961335
|
0.01396
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)
|
rs140776870
|
0.01391
|
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met)
|
rs35785620
|
0.01390
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_004560.4(ROR2):c.75G>A (p.Leu25=)
|
rs148237260
|
0.01389
|
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=)
|
rs79705634
|
0.01389
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=)
|
rs34367758
|
0.01387
|
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=)
|
rs112290343
|
0.01385
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_000048.4(ASL):c.978+46G>T
|
rs117651205
|
0.01383
|
NM_000048.4(ASL):c.1164C>T (p.His388=)
|
rs75300185
|
0.01380
|
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)
|
rs1801158
|
0.01380
|
NM_001297.5(CNGB1):c.606A>G (p.Glu202=)
|
rs76788887
|
0.01379
|
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=)
|
rs80244281
|
0.01378
|
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=)
|
rs35489467
|
0.01378
|
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=)
|
rs80225158
|
0.01377
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=)
|
rs28610521
|
0.01376
|
NM_000540.3(RYR1):c.7835+7C>T
|
rs114522234
|
0.01374
|
NM_003923.3(FOXH1):c.450C>T (p.His150=)
|
rs2721177
|
0.01374
|
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
|
rs6262
|
0.01372
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_002103.5(GYS1):c.1246A>G (p.Met416Val)
|
rs5447
|
0.01369
|
NM_001164508.2(NEB):c.195G>A (p.Pro65=)
|
rs79524813
|
0.01367
|
NM_003036.4(SKI):c.99C>G (p.Gly33=)
|
rs200019352
|
0.01364
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_022039.4(FBXW4):c.472G>C (p.Ala158Pro)
|
rs111600818
|
0.01363
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=)
|
rs73302197
|
0.01361
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
NM_000282.4(PCCA):c.1429+7A>G
|
rs16957276
|
0.01356
|
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=)
|
rs533485167
|
0.01351
|
NM_020751.3(COG6):c.898C>T (p.His300Tyr)
|
rs34555836
|
0.01351
|
NM_138694.4(PKHD1):c.11174+11A>G
|
rs115072237
|
0.01349
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_000017.4(ACADS):c.360C>T (p.Asn120=)
|
rs76543640
|
0.01346
|
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)
|
rs16883930
|
0.01342
|
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=)
|
rs113987077
|
0.01342
|
NM_001195553.2(DCX):c.947-46T>C
|
rs113181679
|
0.01340
|
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)
|
rs12478318
|
0.01339
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_170682.4(P2RX2):c.554+14C>A
|
rs151253585
|
0.01337
|
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
NM_153033.5(KCTD7):c.654C>T (p.Asp218=)
|
rs117194263
|
0.01331
|
NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys)
|
rs17173698
|
0.01330
|
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)
|
rs4369876
|
0.01322
|
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly)
|
rs187134574
|
0.01317
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01316
|
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)
|
rs56234888
|
0.01307
|
NM_000263.4(NAGLU):c.764+19C>G
|
rs77738617
|
0.01306
|
NM_001061.7(TBXAS1):c.1345G>A (p.Glu449Lys)
|
rs8192868
|
0.01306
|
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser)
|
rs61731962
|
0.01305
|
NM_000352.6(ABCC8):c.3329+6C>T
|
rs113873225
|
0.01304
|
NM_012448.4(STAT5B):c.2237+15T>C
|
rs113762956
|
0.01303
|
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=)
|
rs80143277
|
0.01298
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser)
|
rs558018
|
0.01295
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_001164277.2(SLC37A4):c.626+14C>T
|
rs56394886
|
0.01293
|
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=)
|
rs116098879
|
0.01291
|
NM_005249.5(FOXG1):c.*13C>A
|
rs151157846
|
0.01290
|
NM_000209.4(PDX1):c.162G>A (p.Leu54=)
|
rs28509441
|
0.01287
|
NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=)
|
rs183536545
|
0.01287
|
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile)
|
rs62619924
|
0.01285
|
NM_000433.4(NCF2):c.890T>C (p.Val297Ala)
|
rs35937854
|
0.01284
|
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=)
|
rs79886797
|
0.01284
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01280
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_019066.5(MAGEL2):c.901C>T (p.Pro301Ser)
|
rs138154793
|
0.01279
|
NM_000174.5(GP9):c.466G>A (p.Ala156Thr)
|
rs3796130
|
0.01277
|
NM_001142800.2(EYS):c.9030A>G (p.Ala3010=)
|
rs61754905
|
0.01277
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01275
|
NM_206965.2(FTCD):c.906+15C>T
|
rs76474184
|
0.01274
|
NM_000077.5(CDKN2A):c.-25C>T
|
rs144481587
|
0.01273
|
NM_004553.4(NDUFS6):c.-12C>T
|
rs145747389
|
0.01272
|
NM_031900.4(AGXT2):c.1188+1G>A
|
rs114286107
|
0.01270
|
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)
|
rs149861153
|
0.01269
|
NM_001159699.2(FHL1):c.737-13T>C
|
rs11798700
|
0.01269
|
NM_001017995.3(SH3PXD2B):c.1063-8C>T
|
rs76931006
|
0.01268
|
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=)
|
rs61730772
|
0.01264
|
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=)
|
rs16866467
|
0.01263
|
NM_002282.3(KRT83):c.601G>T (p.Glu201Ter)
|
rs146753414
|
0.01263
|
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=)
|
rs61739752
|
0.01259
|
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=)
|
rs35986650
|
0.01258
|
NM_001110556.2(FLNA):c.4598+8G>C
|
rs112379782
|
0.01252
|
NM_000271.5(NPC1):c.2103C>T (p.Asn701=)
|
rs7227375
|
0.01251
|
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg)
|
rs36044314
|
0.01250
|
NM_004560.4(ROR2):c.2727G>A (p.Val909=)
|
rs56091954
|
0.01249
|
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met)
|
rs61744696
|
0.01246
|
NM_001127649.3(PEX26):c.*10C>T
|
rs117472525
|
0.01244
|
NM_001128228.3(TPRN):c.1138G>T (p.Ala380Ser)
|
rs190167940
|
0.01244
|
NM_000383.4(AIRE):c.652+14C>T
|
rs41277546
|
0.01242
|
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu)
|
rs114326915
|
0.01242
|
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln)
|
rs35741412
|
0.01241
|
NM_022132.5(MCCC2):c.1574+37C>G
|
rs138725621
|
0.01241
|
NM_001017995.3(SH3PXD2B):c.1063-9T>C
|
rs189684298
|
0.01238
|
NM_004385.5(VCAN):c.8622G>A (p.Ala2874=)
|
rs3096171
|
0.01237
|
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser)
|
rs61735304
|
0.01236
|
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=)
|
rs17028857
|
0.01235
|
NM_000108.5(DLD):c.675T>C (p.Gly225=)
|
rs73726765
|
0.01233
|
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)
|
rs17113312
|
0.01232
|
NM_001848.3(COL6A1):c.97+20G>A
|
rs114178849
|
0.01230
|
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)
|
rs55876273
|
0.01228
|
NM_201384.3(PLEC):c.2305-10del
|
rs142120912
|
0.01228
|
NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=)
|
rs6692009
|
0.01225
|
NM_002435.3(MPI):c.345+16C>T
|
rs143242949
|
0.01224
|
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys)
|
rs115477764
|
0.01222
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
NM_001034116.2(EIF2B4):c.1233C>T (p.Asn411=)
|
rs1058065
|
0.01220
|
NM_005609.4(PYGM):c.1569C>G (p.Leu523=)
|
rs114138772
|
0.01217
|
NM_000686.5(AGTR2):c.743G>A (p.Arg248Lys)
|
rs5191
|
0.01214
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01212
|
NM_004006.3(DMD):c.3021G>A (p.Ser1007=)
|
rs1800268
|
0.01212
|
NM_000436.4(OXCT1):c.480G>T (p.Gly160=)
|
rs78432029
|
0.01211
|
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser)
|
rs56212569
|
0.01207
|
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu)
|
rs34313873
|
0.01205
|
NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp)
|
rs9827689
|
0.01205
|
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=)
|
rs34749281
|
0.01204
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
NM_020223.4(FAM20C):c.46G>T (p.Val16Leu)
|
rs150401144
|
0.01203
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_000271.5(NPC1):c.3246-20G>A
|
rs6507717
|
0.01199
|
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=)
|
rs8132678
|
0.01197
|
NM_006949.4(STXBP2):c.795-4C>T
|
rs151257815
|
0.01197
|
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val)
|
rs35667974
|
0.01195
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)
|
rs76637913
|
0.01192
|
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser)
|
rs143316414
|
0.01192
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)
|
rs145184792
|
0.01187
|
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)
|
rs35145938
|
0.01185
|
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr)
|
rs41313691
|
0.01184
|
NM_003835.4(RGS9):c.1502G>A (p.Arg501His)
|
rs34797451
|
0.01184
|
NM_001848.3(COL6A1):c.859-20C>T
|
rs78884675
|
0.01182
|
NM_001851.6(COL9A1):c.2271G>A (p.Pro757=)
|
rs2072650
|
0.01180
|
NM_001848.3(COL6A1):c.717+32C>T
|
rs114454809
|
0.01179
|
NM_000489.6(ATRX):c.4557+33G>A
|
rs5912716
|
0.01177
|
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu)
|
rs55689103
|
0.01176
|
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)
|
rs151315725
|
0.01175
|
NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu)
|
rs34363823
|
0.01175
|
NM_000038.6(APC):c.3732A>G (p.Gln1244=)
|
rs74380081
|
0.01174
|
NM_001184.4(ATR):c.5739-7_5739-6del
|
rs72371423
|
0.01173
|
NM_006516.4(SLC2A1):c.19-207T>C
|
rs41310434
|
0.01173
|
NM_022124.6(CDH23):c.1423G>A (p.Val475Met)
|
rs62622410
|
0.01173
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu)
|
rs12689863
|
0.01172
|
NM_000193.4(SHH):c.630C>T (p.Gly210=)
|
rs9333634
|
0.01171
|
NM_000038.6(APC):c.1695A>G (p.Glu565=)
|
rs77921116
|
0.01170
|
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu)
|
rs115857753
|
0.01168
|
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala)
|
rs35643193
|
0.01167
|
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser)
|
rs75279884
|
0.01166
|
NM_001848.3(COL6A1):c.958-17G>A
|
rs79364611
|
0.01165
|
NM_033028.5(BBS4):c.*1G>C
|
rs113678046
|
0.01165
|
NM_006736.6(DNAJB2):c.808G>C (p.Gly270Arg)
|
rs34127289
|
0.01163
|
NM_017617.5(NOTCH1):c.2664C>T (p.His888=)
|
rs61751548
|
0.01162
|
NM_000249.4(MLH1):c.474C>T (p.Asn158=)
|
rs4647256
|
0.01161
|
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)
|
rs34548196
|
0.01161
|
NM_152419.3(HGSNAT):c.1727-9C>G
|
rs76750342
|
0.01160
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=)
|
rs113264142
|
0.01159
|
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)
|
rs28364543
|
0.01154
|
NM_138694.4(PKHD1):c.8174-18T>A
|
rs111383080
|
0.01154
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=)
|
rs5349
|
0.01149
|
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=)
|
rs1042930
|
0.01149
|
NM_004369.4(COL6A3):c.768C>T (p.Val256=)
|
rs79606264
|
0.01148
|
NM_012463.4(ATP6V0A2):c.1606-12G>A
|
rs112415338
|
0.01148
|
NM_000038.6(APC):c.730-29A>T
|
rs75083764
|
0.01144
|
NM_000070.3(CAPN3):c.1116-5A>G
|
rs28364467
|
0.01144
|
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)
|
rs41302073
|
0.01144
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
NM_003482.4(KMT2D):c.8047-15C>T
|
rs202244933
|
0.01140
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_018941.4(CLN8):c.274C>T (p.His92Tyr)
|
rs34030778
|
0.01138
|
NM_000632.4(ITGAM):c.2999C>A (p.Thr1000Asn)
|
rs41321249
|
0.01137
|
NM_003482.4(KMT2D):c.5976G>A (p.Glu1992=)
|
rs77794669
|
0.01137
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
NM_000038.6(APC):c.7201C>T (p.Leu2401=)
|
rs2229994
|
0.01134
|
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter)
|
rs45621032
|
0.01134
|
NM_002381.5(MATN3):c.908C>T (p.Thr303Met)
|
rs77245812
|
0.01128
|
NM_014491.4(FOXP2):c.741C>T (p.Gly247=)
|
rs61732741
|
0.01128
|
NM_153240.5(NPHP3):c.57G>C (p.Thr19=)
|
rs192633696
|
0.01128
|
NM_000489.6(ATRX):c.288A>G (p.Lys96=)
|
rs45574238
|
0.01127
|
NM_018668.5(VPS33B):c.-8C>T
|
rs11542639
|
0.01125
|
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe)
|
rs6182
|
0.01122
|
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=)
|
rs55960450
|
0.01121
|
NM_000163.5(GHR):c.1735C>A (p.Pro579Thr)
|
rs6184
|
0.01120
|
NM_001848.3(COL6A1):c.645G>A (p.Ala215=)
|
rs115292913
|
0.01120
|
NM_000550.3(TYRP1):c.278G>A (p.Arg93His)
|
rs61752937
|
0.01118
|
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=)
|
rs117306121
|
0.01118
|
NM_004333.6(BRAF):c.-19C>T
|
rs71645935
|
0.01115
|
NM_014491.4(FOXP2):c.531A>G (p.Gln177=)
|
rs111801240
|
0.01115
|
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=)
|
rs73377210
|
0.01114
|
NM_000392.5(ABCC2):c.3872C>T (p.Pro1291Leu)
|
rs17216317
|
0.01113
|
NM_181303.2(NLGN3):c.2250C>T (p.Ala750=)
|
rs5981083
|
0.01113
|
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)
|
rs189089167
|
0.01110
|
NM_017534.6(MYH2):c.2967A>G (p.Ala989=)
|
rs113190032
|
0.01110
|
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)
|
rs5352
|
0.01109
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_005477.3(HCN4):c.1839C>T (p.Phe613=)
|
rs117731813
|
0.01108
|
NM_201599.3(ZMYM3):c.1008G>A (p.Ser336=)
|
rs36002370
|
0.01108
|
NM_001256715.2(DNAAF3):c.323-17T>G
|
rs10407660
|
0.01106
|
NM_001377.3(DYNC2H1):c.6478-6C>T
|
rs114254215
|
0.01103
|
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=)
|
rs6711223
|
0.01102
|
NM_001164688.2(RD3):c.584A>T (p.Asp195Val)
|
rs143207434
|
0.01101
|
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)
|
rs187930476
|
0.01101
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
NM_175914.5(HNF4A):c.*167T>A
|
rs11574744
|
0.01097
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)
|
rs115466046
|
0.01096
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met)
|
rs34777958
|
0.01090
|
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)
|
rs11098943
|
0.01088
|
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)
|
rs371877084
|
0.01088
|
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)
|
rs61731376
|
0.01088
|
NM_000321.3(RB1):c.380+12T>C
|
rs3092881
|
0.01087
|
NM_022489.4(INF2):c.391+17G>A
|
rs4074531
|
0.01087
|
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val)
|
rs35902890
|
0.01086
|
NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro)
|
rs35181923
|
0.01086
|
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln)
|
rs61729839
|
0.01085
|
NM_001110556.2(FLNA):c.869-7C>T
|
rs143311779
|
0.01084
|
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln)
|
rs147838690
|
0.01083
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
NM_000489.6(ATRX):c.-14G>A
|
rs45472092
|
0.01079
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=)
|
rs624147
|
0.01079
|
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)
|
rs34155804
|
0.01079
|
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val)
|
rs76895755
|
0.01078
|
NM_004187.5(KDM5C):c.564G>A (p.Lys188=)
|
rs61751437
|
0.01076
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01075
|
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=)
|
rs56277715
|
0.01073
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
NM_000717.5(CA4):c.700G>A (p.Val234Ile)
|
rs117704637
|
0.01071
|
NM_001128228.3(TPRN):c.858C>T (p.Cys286=)
|
rs375619082
|
0.01068
|
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser)
|
rs1805069
|
0.01068
|
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser)
|
rs76381440
|
0.01066
|
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser)
|
rs2499481
|
0.01066
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.01065
|
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe)
|
rs78008536
|
0.01065
|
NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys)
|
rs116185352
|
0.01062
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)
|
rs113155945
|
0.01061
|
NM_001130987.2(DYSF):c.2216+16C>T
|
rs111389127
|
0.01060
|
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)
|
rs115852080
|
0.01060
|
NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=)
|
rs35589394
|
0.01059
|
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)
|
rs36039758
|
0.01056
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_001145809.2(MYH14):c.2841C>T (p.Arg947=)
|
rs138987081
|
0.01050
|
NM_001189.4(NKX3-2):c.351C>G (p.Gly117=)
|
rs145908097
|
0.01047
|
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys)
|
rs17843865
|
0.01046
|
NM_000036.3(AMPD1):c.1224+8G>A
|
rs140176911
|
0.01045
|
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln)
|
rs41289902
|
0.01045
|
NM_004006.3(DMD):c.7310-36C>T
|
rs72466586
|
0.01045
|
NM_001004334.4(GPR179):c.2392G>A (p.Ala798Thr)
|
rs78470373
|
0.01044
|
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)
|
rs35198096
|
0.01041
|
NM_153427.3(PITX2):c.46+8C>G
|
rs199896960
|
0.01041
|
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=)
|
rs35151382
|
0.01040
|
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile)
|
rs79499902
|
0.01040
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_003659.4(AGPS):c.147C>T (p.Pro49=)
|
rs34442536
|
0.01033
|
NM_000098.3(CPT2):c.1767G>A (p.Thr589=)
|
rs77565483
|
0.01032
|
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser)
|
rs35156360
|
0.01032
|
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)
|
rs1800555
|
0.01028
|
NM_006517.5(SLC16A2):c.123C>T (p.Pro41=)
|
rs369603991
|
0.01028
|
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)
|
rs117761837
|
0.01028
|
NM_020975.6(RET):c.868-18G>A
|
rs57098408
|
0.01028
|
NM_003863.4(DPM2):c.183G>A (p.Leu61=)
|
rs11552794
|
0.01027
|
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)
|
rs35889956
|
0.01026
|
NM_004643.4(PABPN1):c.186G>A (p.Leu62=)
|
rs188436762
|
0.01026
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu)
|
rs189888707
|
0.01025
|
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=)
|
rs62636220
|
0.01025
|
NM_006516.4(SLC2A1):c.973-17A>G
|
rs111596088
|
0.01025
|
NM_012186.3(FOXE3):c.423G>A (p.Lys141=)
|
rs145081583
|
0.01025
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)
|
rs142796310
|
0.01022
|
NM_000512.5(GALNS):c.1002+17C>T
|
rs78494153
|
0.01020
|
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)
|
rs35139588
|
0.01019
|
NM_007317.3(KIF22):c.1951-13_1951-10del
|
rs201550112
|
0.01016
|
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg)
|
rs148594123
|
0.01015
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=)
|
rs34503558
|
0.01014
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
NM_014491.4(FOXP2):c.570A>G (p.Gln190=)
|
rs61758964
|
0.01012
|
NM_007214.5(SEC63):c.340-12del
|
rs58827902
|
0.01010
|
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)
|
rs1800269
|
0.01009
|
NM_020549.5(CHAT):c.2067C>T (p.Ile689=)
|
rs3793801
|
0.01009
|
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)
|
rs11553518
|
0.01008
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_153426.3(PITX2):c.46+8_46+9insTT
|
rs571056388
|
0.01006
|
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=)
|
rs35215952
|
0.01004
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val)
|
rs1127291
|
0.01003
|
NM_014384.3(ACAD8):c.210+6C>T
|
rs148089913
|
0.01003
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
NM_000388.4(CASR):c.2610G>A (p.Glu870=)
|
rs143738711
|
0.01002
|
NM_000441.2(SLC26A4):c.1002-9A>C
|
rs10234822
|
0.01002
|
NM_001079802.2(FKTN):c.42G>A (p.Thr14=)
|
rs78794935
|
0.01002
|
NM_005120.3(MED12):c.5535C>T (p.Asn1845=)
|
rs34784349
|
0.01002
|
NM_000071.3(CBS):c.531+34G>T
|
rs149674796
|
0.01001
|
NM_001079802.2(FKTN):c.106-40A>G
|
rs79175958
|
0.01001
|
NM_004006.3(DMD):c.8668+19A>G
|
rs148241865
|
0.01001
|
NM_001079802.2(FKTN):c.106-10G>A
|
rs148384394
|
0.01000
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
NM_004380.3(CREBBP):c.459G>A (p.Pro153=)
|
rs56388626
|
0.01000
|
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=)
|
rs3812596
|
0.01000
|
NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe)
|
rs75301950
|
0.01000
|
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser)
|
rs56398830
|
0.00998
|
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)
|
rs61735835
|
0.00998
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00997
|
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=)
|
rs184883626
|
0.00997
|
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00995
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_000249.4(MLH1):c.588+11G>C
|
rs4647258
|
0.00993
|
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser)
|
rs73270846
|
0.00993
|
NM_001034116.2(EIF2B4):c.1372+13A>C
|
rs78914478
|
0.00992
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
NM_003361.4(UMOD):c.538C>G (p.Leu180Val)
|
rs187555378
|
0.00991
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
NM_004385.5(VCAN):c.899C>T (p.Ser300Leu)
|
rs2652098
|
0.00988
|
NM_005199.5(CHRNG):c.951C>A (p.Ile317=)
|
rs75369104
|
0.00988
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00985
|
NM_000515.5(GH1):c.116C>T (p.Ala39Val)
|
rs151263636
|
0.00985
|
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)
|
rs77775126
|
0.00985
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_001876.4(CPT1A):c.556-19T>G
|
rs117610994
|
0.00984
|
NM_004456.5(EZH2):c.485-7G>A
|
rs112932272
|
0.00984
|
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)
|
rs142735148
|
0.00983
|
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys)
|
rs147266709
|
0.00982
|
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)
|
rs141166141
|
0.00982
|
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=)
|
rs115526767
|
0.00982
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00981
|
NM_001077365.2(POMT1):c.78G>A (p.Gly26=)
|
rs149554732
|
0.00980
|
NM_024740.2(ALG9):c.132-13T>G
|
rs72994380
|
0.00979
|
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)
|
rs59252892
|
0.00979
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
NM_005529.7(HSPG2):c.5702-5G>A
|
rs2290498
|
0.00977
|
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
|
rs114975624
|
0.00971
|
NM_015311.3(OBSL1):c.119C>G (p.Pro40Arg)
|
rs191256186
|
0.00971
|
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys)
|
rs115750596
|
0.00971
|
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser)
|
rs144605615
|
0.00970
|
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val)
|
rs149140724
|
0.00970
|
NM_000026.4(ADSL):c.124C>T (p.Leu42=)
|
rs2228415
|
0.00969
|
NM_201384.3(PLEC):c.2832C>T (p.Gly944=)
|
rs145050858
|
0.00969
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
|
rs114814747
|
0.00964
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=)
|
rs11062316
|
0.00963
|
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg)
|
rs16999593
|
0.00959
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)
|
rs1007211
|
0.00957
|
NM_015295.3(SMCHD1):c.873+7T>C
|
rs114242799
|
0.00957
|
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg)
|
rs115884084
|
0.00956
|
NM_004385.5(VCAN):c.9104C>T (p.Ala3035Val)
|
rs111512368
|
0.00955
|
NM_001324144.2(ZNF41):c.945T>G (p.Asp315Glu)
|
rs2498170
|
0.00954
|
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)
|
rs74518295
|
0.00953
|
NM_004944.4(DNASE1L3):c.244G>C (p.Gly82Arg)
|
rs74350392
|
0.00953
|
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)
|
rs34421970
|
0.00952
|
NM_012418.4(FSCN2):c.309G>A (p.Arg103=)
|
rs34126129
|
0.00952
|
NM_022124.6(CDH23):c.1038G>A (p.Pro346=)
|
rs74608315
|
0.00950
|
NM_147127.5(EVC2):c.-19T>C
|
rs188508515
|
0.00949
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=)
|
rs59844753
|
0.00947
|
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168
|
0.00946
|
NM_001130987.2(DYSF):c.3757-12C>T
|
rs114968209
|
0.00943
|
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)
|
rs56307810
|
0.00942
|
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His)
|
rs34879202
|
0.00942
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
NM_021625.5(TRPV4):c.33G>T (p.Gly11=)
|
rs56092423
|
0.00939
|
NM_001136193.2(FASTKD2):c.-51A>G
|
rs116297724
|
0.00938
|
NM_002225.5(IVD):c.88C>T (p.His30Tyr)
|
rs73383128
|
0.00938
|
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=)
|
rs61735535
|
0.00938
|
NM_002076.4(GNS):c.21C>G (p.Ala7=)
|
rs61743823
|
0.00937
|
NM_005876.5(SPEG):c.984C>T (p.Pro328=)
|
rs187565836
|
0.00937
|
NM_001177316.2(SLC34A3):c.1009G>A (p.Gly337Ser)
|
rs35699762
|
0.00936
|
NM_003482.4(KMT2D):c.5868-8C>T
|
rs75783546
|
0.00934
|
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly)
|
rs139436396
|
0.00934
|
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)
|
rs140480823
|
0.00931
|
NM_005477.3(HCN4):c.3033T>G (p.Ser1011=)
|
rs186728422
|
0.00931
|
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln)
|
rs138924815
|
0.00931
|
NM_000255.4(MMUT):c.711A>G (p.Pro237=)
|
rs138085432
|
0.00930
|
NM_004260.4(RECQL4):c.1879-15C>A
|
rs35126141
|
0.00929
|
NM_170707.4(LMNA):c.1158-44C>T
|
rs141879453
|
0.00929
|
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala)
|
rs189108830
|
0.00928
|
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)
|
rs138421850
|
0.00928
|
NM_031220.4(PITPNM3):c.901-10G>C
|
rs77580616
|
0.00927
|
NM_001848.3(COL6A1):c.1740+50C>T
|
rs148205490
|
0.00926
|
NM_031471.6(FERMT3):c.405C>T (p.His135=)
|
rs78810429
|
0.00926
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)
|
rs77499935
|
0.00923
|
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His)
|
rs140547835
|
0.00922
|
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)
|
rs78266558
|
0.00922
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)
|
rs2230180
|
0.00920
|
NM_138694.4(PKHD1):c.391-43T>A
|
rs116414807
|
0.00920
|
NM_000018.4(ACADVL):c.623-8C>T
|
rs144996066
|
0.00919
|
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)
|
rs62646879
|
0.00919
|
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)
|
rs180849348
|
0.00918
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_001360016.2(G6PD):c.645-17C>T
|
rs5986875
|
0.00915
|
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)
|
rs62151609
|
0.00915
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00914
|
NM_000552.5(VWF):c.5313G>T (p.Gly1771=)
|
rs2229448
|
0.00914
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His)
|
rs137975310
|
0.00913
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
NM_000181.4(GUSB):c.162C>T (p.Asn54=)
|
rs74975849
|
0.00909
|
NM_002834.5(PTPN11):c.854-30T>C
|
rs144391508
|
0.00909
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
NM_000719.7(CACNA1C):c.771C>T (p.Val257=)
|
rs112315742
|
0.00908
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_005677.4(COLQ):c.291G>A (p.Ser97=)
|
rs115201284
|
0.00908
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_005413.4(SIX3):c.525G>A (p.Gln175=)
|
rs116680477
|
0.00907
|
NM_001854.4(COL11A1):c.4140+10A>T
|
rs187171126
|
0.00906
|
NM_004273.5(CHST3):c.1160G>A (p.Arg387His)
|
rs145384892
|
0.00906
|
NM_153240.5(NPHP3):c.450G>A (p.Ala150=)
|
rs78527322
|
0.00906
|
NM_000152.5(GAA):c.1551+42G>A
|
rs115427918
|
0.00904
|
NM_007254.4(PNKP):c.1127-8C>T
|
rs3739203
|
0.00901
|
NM_004369.4(COL6A3):c.6408+44A>G
|
rs78398512
|
0.00900
|
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=)
|
rs6089898
|
0.00898
|
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser)
|
rs2295191
|
0.00898
|
NM_003361.4(UMOD):c.1740+38C>T
|
rs116674896
|
0.00897
|
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
|
rs149030303
|
0.00897
|
NM_198525.3(KIF7):c.2271C>T (p.Ala757=)
|
rs35451920
|
0.00897
|
NM_000157.4(GBA1):c.762-18T>A
|
rs140335079
|
0.00896
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
0.00894
|
NM_001128227.3(GNE):c.-10G>A
|
rs73449614
|
0.00894
|
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)
|
rs34541442
|
0.00893
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)
|
rs61995747
|
0.00892
|
NM_000523.4(HOXD13):c.41C>T (p.Ala14Val)
|
rs555136684
|
0.00891
|
NM_002693.3(POLG):c.1586-5del
|
rs2307434
|
0.00891
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp)
|
rs8187797
|
0.00888
|
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr)
|
rs535621809
|
0.00887
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
NM_001202.6(BMP4):c.370+28G>A
|
rs72680532
|
0.00883
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
NM_001114753.3(ENG):c.1374A>G (p.Pro458=)
|
rs34828244
|
0.00879
|
NM_001876.4(CPT1A):c.1941C>G (p.Ala647=)
|
rs115731492
|
0.00879
|
NM_000326.5(RLBP1):c.346+3_346+8del
|
rs56307321
|
0.00878
|
NM_004260.4(RECQL4):c.1564C>T (p.Arg522Cys)
|
rs35407712
|
0.00877
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr)
|
rs35735053
|
0.00876
|
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met)
|
rs72655972
|
0.00876
|
NM_004260.4(RECQL4):c.275C>T (p.Ser92Phe)
|
rs200516441
|
0.00876
|
NM_000540.3(RYR1):c.10259+7G>A
|
rs143752962
|
0.00875
|
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)
|
rs79040751
|
0.00875
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile)
|
rs61735473
|
0.00870
|
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=)
|
rs2020910
|
0.00869
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_022437.3(ABCG8):c.51C>A (p.Pro17=)
|
rs72647316
|
0.00868
|
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser)
|
rs61735104
|
0.00867
|
NM_002834.5(PTPN11):c.854-32A>C
|
rs187389813
|
0.00867
|
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)
|
rs111326315
|
0.00867
|
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=)
|
rs2301357
|
0.00867
|
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)
|
rs141309384
|
0.00866
|
NM_019066.5(MAGEL2):c.1446T>C (p.Ala482=)
|
rs2233065
|
0.00866
|
NM_032575.3(GLIS2):c.70C>A (p.Arg24=)
|
rs34543395
|
0.00866
|
NM_000426.4(LAMA2):c.8548-10T>C
|
rs113644365
|
0.00865
|
NM_001371623.1(TCOF1):c.4007A>G (p.Lys1336Arg)
|
rs55980697
|
0.00865
|
NM_018136.5(ASPM):c.8820+7C>G
|
rs115045814
|
0.00865
|
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)
|
rs146249007
|
0.00864
|
NM_012418.4(FSCN2):c.732G>A (p.Thr244=)
|
rs34797307
|
0.00864
|
NM_001015880.2(PAPSS2):c.886G>A (p.Val296Met)
|
rs45467596
|
0.00863
|
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile)
|
rs113825926
|
0.00863
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
|
rs3729823
|
0.00861
|
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser)
|
rs34704821
|
0.00856
|
NM_000512.5(GALNS):c.723C>T (p.Ala241=)
|
rs117053987
|
0.00855
|
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)
|
rs140237315
|
0.00855
|
NM_002435.3(MPI):c.762C>T (p.Ile254=)
|
rs12440159
|
0.00855
|
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys)
|
rs34049451
|
0.00854
|
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=)
|
rs143382184
|
0.00854
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=)
|
rs11829764
|
0.00853
|
NM_006306.4(SMC1A):c.2197-5T>C
|
rs2297104
|
0.00852
|
NM_201384.3(PLEC):c.1752C>T (p.Pro584=)
|
rs185978075
|
0.00852
|
NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn)
|
rs117412559
|
0.00851
|
NM_000404.4(GLB1):c.552+21G>A
|
rs76275661
|
0.00847
|
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln)
|
rs142639450
|
0.00847
|
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)
|
rs75937132
|
0.00847
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr)
|
rs34918608
|
0.00845
|
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs)
|
rs200353947
|
0.00844
|
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala)
|
rs71535732
|
0.00843
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe)
|
rs74638057
|
0.00841
|
NM_019066.5(MAGEL2):c.383T>C (p.Leu128Pro)
|
rs191559595
|
0.00841
|
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)
|
rs138047593
|
0.00841
|
NM_000033.4(ABCD1):c.901-16C>T
|
rs41302176
|
0.00840
|
NM_000255.4(MMUT):c.1992G>A (p.Ala664=)
|
rs144146728
|
0.00839
|
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=)
|
rs117901891
|
0.00839
|
NM_001195553.2(DCX):c.705+48A>G
|
rs201805884
|
0.00836
|
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met)
|
rs34314205
|
0.00836
|
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)
|
rs61740509
|
0.00831
|
NM_002024.6(FMR1):c.18G>T (p.Val6=)
|
rs111485627
|
0.00830
|
NM_000186.4(CFH):c.2634C>T (p.His878=)
|
rs35292876
|
0.00829
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg)
|
rs41494349
|
0.00826
|
NM_005220.3(DLX3):c.582G>A (p.Pro194=)
|
rs11868203
|
0.00824
|
NM_004006.3(DMD):c.-419A>G
|
rs150939177
|
0.00821
|
NM_004715.5(CTDP1):c.213G>C (p.Gly71=)
|
rs201234471
|
0.00821
|
NM_002755.4(MAP2K1):c.-2A>G
|
rs77796976
|
0.00820
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=)
|
rs150857429
|
0.00816
|
NM_000478.6(ALPL):c.455G>A (p.Arg152His)
|
rs149344982
|
0.00814
|
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile)
|
rs75583421
|
0.00814
|
NM_003482.4(KMT2D):c.5016T>C (p.Pro1672=)
|
rs114731584
|
0.00814
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)
|
rs77782321
|
0.00810
|
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)
|
rs114152068
|
0.00810
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
NM_001079802.2(FKTN):c.166-6A>G
|
rs41277795
|
0.00808
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp)
|
rs41299623
|
0.00808
|
NM_020451.3(SELENON):c.747+39C>T
|
rs114458946
|
0.00808
|
NM_000327.4(ROM1):c.868del (p.Gln290fs)
|
rs548233813
|
0.00807
|
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)
|
rs144635565
|
0.00806
|
NM_001079802.2(FKTN):c.910+14G>A
|
rs76180538
|
0.00806
|
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=)
|
rs17145653
|
0.00806
|
NM_004006.3(DMD):c.1332-18C>T
|
rs193153078
|
0.00806
|
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu)
|
rs35089741
|
0.00806
|
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=)
|
rs77898819
|
0.00804
|
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
|
rs61910685
|
0.00804
|
NM_000275.3(OCA2):c.1752C>T (p.His584=)
|
rs151225947
|
0.00803
|
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=)
|
rs34654108
|
0.00801
|
NM_133497.4(KCNV2):c.849G>A (p.Glu283=)
|
rs17656693
|
0.00801
|
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=)
|
rs138667007
|
0.00801
|
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=)
|
rs10405232
|
0.00800
|
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=)
|
rs61744561
|
0.00798
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_005477.3(HCN4):c.2979G>A (p.Thr993=)
|
rs75307879
|
0.00796
|
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)
|
rs62109744
|
0.00795
|
NM_024757.5(EHMT1):c.1369+9C>T
|
rs146125583
|
0.00794
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)
|
rs80039127
|
0.00793
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000466.3(PEX1):c.2901G>A (p.Gln967=)
|
rs111704518
|
0.00792
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)
|
rs116660078
|
0.00791
|
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met)
|
rs114274755
|
0.00791
|
NM_032575.3(GLIS2):c.894C>T (p.Pro298=)
|
rs112926217
|
0.00791
|
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
|
rs34442879
|
0.00790
|
NM_000320.3(QDPR):c.96C>T (p.Ala32=)
|
rs2518608
|
0.00789
|
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)
|
rs149055334
|
0.00789
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00788
|
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)
|
rs56219475
|
0.00787
|
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)
|
rs78461695
|
0.00787
|
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=)
|
rs61754523
|
0.00785
|
NM_001277313.2(FMN1):c.2044-1818A>G
|
rs74655292
|
0.00784
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del)
|
rs751555478
|
0.00781
|
NM_000277.3(PAH):c.1242C>T (p.Tyr414=)
|
rs1801152
|
0.00779
|
NM_001145809.2(MYH14):c.3663C>T (p.Asn1221=)
|
rs78573213
|
0.00779
|
NM_003119.4(SPG7):c.120G>A (p.Gly40=)
|
rs187330648
|
0.00779
|
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu)
|
rs111589086
|
0.00779
|
NM_018100.4(EFHC1):c.662G>A (p.Arg221His)
|
rs79761183
|
0.00778
|
NM_006158.5(NEFL):c.1407G>A (p.Glu469=)
|
rs543609297
|
0.00777
|
NM_000141.5(FGFR2):c.294G>A (p.Thr98=)
|
rs1047101
|
0.00776
|
NM_001009944.3(PKD1):c.1710C>T (p.His570=)
|
rs367983387
|
0.00775
|
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln)
|
rs35059000
|
0.00775
|
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)
|
rs55886356
|
0.00774
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?)
|
rs553265417
|
0.00773
|
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=)
|
rs45506098
|
0.00771
|
NM_138694.4(PKHD1):c.7110-7T>A
|
rs113034899
|
0.00770
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_000532.5(PCCB):c.967-42G>C
|
rs77495412
|
0.00769
|
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)
|
rs140791735
|
0.00769
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_002485.5(NBN):c.37+5G>A
|
rs116735828
|
0.00767
|
NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile)
|
rs5019554
|
0.00766
|
NM_000458.4(HNF1B):c.345-19C>T
|
rs59527848
|
0.00765
|
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser)
|
rs76707172
|
0.00765
|
NM_001044385.3(TMEM237):c.75-13T>C
|
rs116829037
|
0.00764
|
NM_004273.5(CHST3):c.1173C>A (p.Ile391=)
|
rs115579748
|
0.00763
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)
|
rs1800172
|
0.00760
|
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)
|
rs200793796
|
0.00760
|
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe)
|
rs144099135
|
0.00760
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_006912.6(RIT1):c.375C>T (p.Asp125=)
|
rs34831194
|
0.00759
|
NM_130837.3(OPA1):c.2961C>T (p.Arg987=)
|
rs35540805
|
0.00758
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu)
|
rs181520135
|
0.00757
|
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val)
|
rs3729952
|
0.00756
|
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe)
|
rs3747333
|
0.00756
|
NM_005138.3(SCO2):c.763C>A (p.Arg255=)
|
rs112793292
|
0.00755
|
NM_000282.4(PCCA):c.2119-43T>C
|
rs150390822
|
0.00754
|
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)
|
rs143414291
|
0.00754
|
NM_004447.6(EPS8):c.2283T>G (p.Asp761Glu)
|
rs7137185
|
0.00754
|
NM_130837.3(OPA1):c.2049A>G (p.Val683=)
|
rs73069703
|
0.00753
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_000709.4(BCKDHA):c.995+9C>T
|
rs13343330
|
0.00750
|
NM_001039141.3(TRIOBP):c.4178C>T (p.Pro1393Leu)
|
rs28450766
|
0.00750
|
NM_000875.5(IGF1R):c.2700C>T (p.Asn900=)
|
rs56400113
|
0.00749
|
NM_198999.3(SLC26A5):c.-53-2A>G
|
rs116900495
|
0.00748
|
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser)
|
rs3746609
|
0.00747
|
NM_053025.4(MYLK):c.383C>T (p.Ala128Val)
|
rs143896146
|
0.00747
|
NM_000443.4(ABCB4):c.81-16A>G
|
rs45552835
|
0.00746
|
NM_001384140.1(PCDH15):c.4672-1637G>A
|
rs139441645
|
0.00746
|
NM_001083961.2(WDR62):c.*5G>A
|
rs61740165
|
0.00745
|
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=)
|
rs113335442
|
0.00745
|
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)
|
rs34391943
|
0.00744
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_001393500.2(TOMT):c.524G>A (p.Arg175Gln)
|
rs61741195
|
0.00743
|
NM_001458.5(FLNC):c.4289-4A>C
|
rs140031589
|
0.00743
|
NM_001876.4(CPT1A):c.1908G>A (p.Ala636=)
|
rs111407620
|
0.00743
|
NM_004006.3(DMD):c.3603+8A>G
|
rs193249735
|
0.00743
|
NM_000245.4(MET):c.1085T>C (p.Met362Thr)
|
rs77523018
|
0.00742
|
NM_006432.5(NPC2):c.442-4A>C
|
rs114950106
|
0.00742
|
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys)
|
rs72957510
|
0.00742
|
NM_000245.4(MET):c.390C>T (p.Leu130=)
|
rs150588908
|
0.00740
|
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)
|
rs111033477
|
0.00740
|
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=)
|
rs11000010
|
0.00740
|
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)
|
rs116826041
|
0.00739
|
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile)
|
rs147895473
|
0.00739
|
NM_001286074.1(TAF1):c.32C>T (p.Thr11Ile)
|
rs139510844
|
0.00738
|
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)
|
rs61732664
|
0.00738
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
NM_001114748.2(TMEM240):c.453C>T (p.Ala151=)
|
rs199556012
|
0.00737
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
NM_012186.3(FOXE3):c.618C>G (p.Ala206=)
|
rs189628587
|
0.00737
|
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln)
|
rs183329050
|
0.00737
|
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)
|
rs34150427
|
0.00734
|
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)
|
rs35707762
|
0.00734
|
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)
|
rs33956783
|
0.00733
|
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=)
|
rs34561092
|
0.00733
|
NM_052845.3(MMAB):c.-180C>T
|
rs66486014
|
0.00733
|
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)
|
rs60582583
|
0.00733
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00732
|
NM_003640.5(ELP1):c.1230G>A (p.Pro410=)
|
rs41278359
|
0.00732
|
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)
|
rs112469769
|
0.00730
|
NM_004715.5(CTDP1):c.150C>G (p.Ala50=)
|
rs564311662
|
0.00730
|
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)
|
rs45464693
|
0.00730
|
NM_000843.4(GRM6):c.1566C>T (p.Cys522=)
|
rs62638209
|
0.00729
|
NM_001008212.2(OPTN):c.123G>A (p.Leu41=)
|
rs11591687
|
0.00729
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)
|
rs146953558
|
0.00728
|
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile)
|
rs147493246
|
0.00727
|
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser)
|
rs138144479
|
0.00727
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)
|
rs75714509
|
0.00723
|
NM_001042545.2(LTBP4):c.4298A>T (p.Tyr1433Phe)
|
rs35809725
|
0.00722
|
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
|
rs139014478
|
0.00721
|
NM_144997.7(FLCN):c.1538+14T>G
|
rs112111994
|
0.00721
|
NM_001844.5(COL2A1):c.708+8C>T
|
rs41317893
|
0.00720
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)
|
rs1801505
|
0.00719
|
NM_000271.5(NPC1):c.3246-46C>T
|
rs117851153
|
0.00718
|
NM_002335.4(LRP5):c.687-8G>A
|
rs190810239
|
0.00718
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
NM_000048.4(ASL):c.576G>A (p.Lys192=)
|
rs115468878
|
0.00717
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)
|
rs2229137
|
0.00715
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
NM_001164508.2(NEB):c.2832C>T (p.Ser944=)
|
rs114076205
|
0.00714
|
NM_001848.3(COL6A1):c.1612-10G>A
|
rs141892165
|
0.00714
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_018965.4(TREM2):c.185G>A (p.Arg62His)
|
rs143332484
|
0.00714
|
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=)
|
rs76426116
|
0.00714
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_001848.3(COL6A1):c.1823-8G>A
|
rs184666690
|
0.00711
|
NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys)
|
rs75125670
|
0.00711
|
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=)
|
rs113595214
|
0.00709
|
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=)
|
rs142744007
|
0.00709
|
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=)
|
rs60091617
|
0.00708
|
NM_000512.5(GALNS):c.775C>A (p.Arg259=)
|
rs61742258
|
0.00707
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro)
|
rs565885690
|
0.00707
|
NM_000360.4(TH):c.684G>A (p.Glu228=)
|
rs11564716
|
0.00706
|
NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly)
|
rs34169326
|
0.00706
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=)
|
rs58747567
|
0.00705
|
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)
|
rs78268395
|
0.00705
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)
|
rs114363936
|
0.00703
|
NM_001379110.1(SLC9A6):c.1662-4G>A
|
rs188072063
|
0.00703
|
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)
|
rs35273032
|
0.00703
|
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met)
|
rs2303743
|
0.00702
|
NM_004316.4(ASCL1):c.123A>G (p.Ala41=)
|
rs558732328
|
0.00702
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)
|
rs17452588
|
0.00701
|
NM_001292063.2(OTOG):c.5235C>A (p.Leu1745=)
|
rs193083374
|
0.00701
|
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)
|
rs3827522
|
0.00701
|
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu)
|
rs117706710
|
0.00700
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=)
|
rs147036760
|
0.00699
|
NM_033109.5(PNPT1):c.2070-5T>C
|
rs145739483
|
0.00699
|
NM_213599.3(ANO5):c.1545A>G (p.Ser515=)
|
rs35843353
|
0.00699
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)
|
rs17354992
|
0.00698
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
NM_001853.4(COL9A3):c.901-9T>C
|
rs74506912
|
0.00695
|
NM_014714.4(IFT140):c.322G>A (p.Val108Met)
|
rs146128830
|
0.00695
|
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=)
|
rs77310009
|
0.00694
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
NM_022455.5(NSD1):c.1515T>C (p.Asn505=)
|
rs114747882
|
0.00694
|
NM_133642.5(LARGE1):c.-31G>A
|
rs117199378
|
0.00694
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
NM_001277313.2(FMN1):c.2752A>G (p.Ser918Gly)
|
rs57378148
|
0.00693
|
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=)
|
rs151313865
|
0.00691
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly)
|
rs142249570
|
0.00691
|
NM_005148.4(UNC119):c.65G>T (p.Gly22Val)
|
rs199714731
|
0.00691
|
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)
|
rs62619919
|
0.00690
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro)
|
rs149252987
|
0.00689
|
NM_004006.2(DMD):c.-128771C>T
|
rs190028670
|
0.00689
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
NM_014363.6(SACS):c.4188C>T (p.His1396=)
|
rs61754477
|
0.00688
|
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)
|
rs9550956
|
0.00688
|
NM_000252.3(MTM1):c.1260+17A>G
|
rs185258809
|
0.00687
|
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)
|
rs115960224
|
0.00687
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_018668.5(VPS33B):c.1671A>G (p.Glu557=)
|
rs148071246
|
0.00686
|
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)
|
rs41266697
|
0.00686
|
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala)
|
rs35794435
|
0.00685
|
NM_005708.5(GPC6):c.256C>T (p.Leu86Phe)
|
rs143872144
|
0.00684
|
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)
|
rs150895887
|
0.00683
|
NM_000036.3(AMPD1):c.1464G>A (p.Glu488=)
|
rs80266556
|
0.00682
|
NM_033100.4(CDHR1):c.-1C>T
|
rs114273269
|
0.00682
|
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)
|
rs187343008
|
0.00681
|
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=)
|
rs77612903
|
0.00681
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
NM_001848.3(COL6A1):c.3054C>T (p.His1018=)
|
rs141237809
|
0.00680
|
NM_002024.6(FMR1):c.104+42A>G
|
rs141796490
|
0.00680
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00680
|
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=)
|
rs73765819
|
0.00679
|
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_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)
|
rs146708884
|
0.00677
|
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg)
|
rs61744209
|
0.00677
|
NM_000219.6(KCNE1):c.84G>A (p.Ser28=)
|
rs17173510
|
0.00676
|
NM_153717.3(EVC):c.780G>A (p.Lys260=)
|
rs41269555
|
0.00676
|
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile)
|
rs151091241
|
0.00676
|
NM_000038.6(APC):c.5265G>A (p.Ala1755=)
|
rs34506289
|
0.00675
|
NM_000098.3(CPT2):c.302C>T (p.Ala101Val)
|
rs75939866
|
0.00675
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
NM_000306.4(POU1F1):c.666-5G>A
|
rs76296626
|
0.00674
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=)
|
rs148865812
|
0.00674
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile)
|
rs184262608
|
0.00672
|
NM_001848.3(COL6A1):c.588+37A>G
|
rs117470181
|
0.00672
|
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu)
|
rs142948530
|
0.00672
|
NM_006005.3(WFS1):c.2335G>A (p.Val779Met)
|
rs141328044
|
0.00672
|
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)
|
rs149416418
|
0.00671
|
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_133497.4(KCNV2):c.676G>A (p.Val226Ile)
|
rs74587818
|
0.00669
|
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)
|
rs2634197
|
0.00668
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
NM_005477.3(HCN4):c.2673G>A (p.Ser891=)
|
rs191092709
|
0.00666
|
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)
|
rs17711594
|
0.00665
|
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=)
|
rs79230542
|
0.00665
|
NM_018136.5(ASPM):c.3742-10T>G
|
rs41299587
|
0.00665
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_001985.3(ETFB):c.438+20C>T
|
rs114985874
|
0.00662
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)
|
rs144876996
|
0.00659
|
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser)
|
rs80046653
|
0.00659
|
NM_014000.3(VCL):c.2801C>T (p.Ala934Val)
|
rs16931179
|
0.00658
|
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)
|
rs140029076
|
0.00658
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)
|
rs2229474
|
0.00657
|
NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His)
|
rs11555797
|
0.00657
|
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=)
|
rs75949023
|
0.00656
|
NM_018136.5(ASPM):c.3741+3A>G
|
rs138558822
|
0.00656
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_198506.5(LRIT3):c.1509G>A (p.Thr503=)
|
rs76587489
|
0.00652
|
NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=)
|
rs116964444
|
0.00651
|
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=)
|
rs144469613
|
0.00650
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
NM_018714.3(COG1):c.1049C>T (p.Thr350Met)
|
rs117344829
|
0.00650
|
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser)
|
rs3741626
|
0.00649
|
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn)
|
rs116373583
|
0.00649
|
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val)
|
rs111851716
|
0.00648
|
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn)
|
rs36090425
|
0.00646
|
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly)
|
rs76767949
|
0.00646
|
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)
|
rs142030651
|
0.00646
|
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)
|
rs117598688
|
0.00646
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
NM_032601.4(MCEE):c.102C>G (p.Pro34=)
|
rs146573280
|
0.00646
|
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)
|
rs147487242
|
0.00646
|
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)
|
rs143147192
|
0.00645
|
NM_017617.5(NOTCH1):c.5168-10G>A
|
rs199903655
|
0.00645
|
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=)
|
rs34060600
|
0.00644
|
NM_001029896.2(WDR45):c.838G>A (p.Val280Met)
|
rs149509552
|
0.00644
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
NM_004082.5(DCTN1):c.3529+5G>A
|
rs72466494
|
0.00644
|
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=)
|
rs61735819
|
0.00644
|
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser)
|
rs74967568
|
0.00644
|
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln)
|
rs142032474
|
0.00643
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=)
|
rs111381107
|
0.00641
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
NM_000337.6(SGCD):c.294+8T>C
|
rs11748588
|
0.00640
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00640
|
NM_003482.4(KMT2D):c.8046+11A>G
|
rs145186737
|
0.00640
|
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=)
|
rs116237011
|
0.00638
|
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=)
|
rs61751490
|
0.00638
|
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser)
|
rs61731030
|
0.00638
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)
|
rs35738915
|
0.00636
|
NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr)
|
rs148594713
|
0.00636
|
NM_001165963.4(SCN1A):c.384-20G>C
|
rs192956852
|
0.00635
|
NM_002087.3(GRN):c.-72G>T
|
rs76783532
|
0.00635
|
NM_005477.3(HCN4):c.36C>G (p.Leu12=)
|
rs201193660
|
0.00635
|
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln)
|
rs146797353
|
0.00635
|
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=)
|
rs187252584
|
0.00635
|
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr)
|
rs78763451
|
0.00634
|
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=)
|
rs150691758
|
0.00634
|
NM_030665.4(RAI1):c.1044C>T (p.Arg348=)
|
rs142316059
|
0.00634
|
NM_002764.4(PRPS1):c.456A>G (p.Leu152=)
|
rs61735617
|
0.00632
|
NM_020717.5(SHROOM4):c.4101G>T (p.Leu1367Phe)
|
rs28362302
|
0.00632
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
NM_004447.6(EPS8):c.104A>G (p.His35Arg)
|
rs71532816
|
0.00631
|
NM_031433.4(MFRP):c.1635G>A (p.Ala545=)
|
rs138370910
|
0.00631
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala)
|
rs34837068
|
0.00631
|
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)
|
rs558770240
|
0.00630
|
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp)
|
rs61746568
|
0.00630
|
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His)
|
rs116872934
|
0.00628
|
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile)
|
rs61755430
|
0.00628
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=)
|
rs118185564
|
0.00627
|
NM_004006.3(DMD):c.7476T>C (p.Val2492=)
|
rs142153424
|
0.00626
|
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu)
|
rs62642528
|
0.00626
|
NM_000036.3(AMPD1):c.1975-23T>A
|
rs148592763
|
0.00625
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val)
|
rs111229124
|
0.00625
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
NM_152384.3(BBS5):c.620G>A (p.Arg207His)
|
rs35487251
|
0.00625
|
NM_175875.5(SIX5):c.213G>T (p.Gly71=)
|
rs570333735
|
0.00625
|
NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly)
|
rs184704920
|
0.00624
|
NM_003850.3(SUCLA2):c.45C>T (p.Thr15=)
|
rs35899901
|
0.00624
|
NM_003036.4(SKI):c.1974C>T (p.Arg658=)
|
rs201895384
|
0.00623
|
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu)
|
rs61741336
|
0.00623
|
NM_004006.3(DMD):c.3787-18T>C
|
rs72468656
|
0.00621
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_000061.3(BTK):c.141+11C>T
|
rs138411530
|
0.00620
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_000266.4(NDP):c.*10C>G
|
rs140653237
|
0.00620
|
NM_001379081.2(FREM1):c.4727A>T (p.Asn1576Ile)
|
rs2101770
|
0.00620
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)
|
rs28763961
|
0.00618
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)
|
rs34737974
|
0.00618
|
NM_025243.4(SLC19A3):c.309G>A (p.Val103=)
|
rs142837989
|
0.00618
|
NM_198129.4(LAMA3):c.9353G>A (p.Ser3118Asn)
|
rs61749943
|
0.00618
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
NM_006180.6(NTRK2):c.2113C>T (p.Leu705=)
|
rs75380746
|
0.00617
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)
|
rs187810163
|
0.00617
|
NM_001077365.2(POMT1):c.891G>A (p.Leu297=)
|
rs76109289
|
0.00616
|
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)
|
rs16020
|
0.00616
|
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)
|
rs16026
|
0.00616
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)
|
rs56181243
|
0.00615
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
NM_000554.6(CRX):c.365G>A (p.Gly122Asp)
|
rs61748441
|
0.00614
|
NM_000070.3(CAPN3):c.495C>T (p.Phe165=)
|
rs1801324
|
0.00613
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)
|
rs34618570
|
0.00613
|
NM_002863.5(PYGL):c.1093-6C>A
|
rs147211684
|
0.00613
|
NM_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser)
|
rs56204273
|
0.00613
|
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=)
|
rs181646656
|
0.00612
|
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His)
|
rs114156788
|
0.00612
|
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)
|
rs62625033
|
0.00610
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)
|
rs72768728
|
0.00609
|
NM_012418.4(FSCN2):c.412C>T (p.His138Tyr)
|
rs143796236
|
0.00609
|
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=)
|
rs138477292
|
0.00609
|
NM_181332.3(NLGN4X):c.2271G>A (p.Pro757=)
|
rs4999056
|
0.00609
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)
|
rs35946774
|
0.00608
|
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)
|
rs113671330
|
0.00608
|
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=)
|
rs35480887
|
0.00607
|
NM_000540.3(RYR1):c.573C>T (p.Asp191=)
|
rs892054
|
0.00607
|
NM_001277115.2(DNAH11):c.1426-9T>C
|
rs72655983
|
0.00607
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
NM_001037.5(SCN1B):c.*76G>T
|
rs367768639
|
0.00605
|
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00605
|
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)
|
rs199897247
|
0.00605
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
NM_001378414.1(HDAC4):c.1692G>A (p.Lys564=)
|
rs114495208
|
0.00604
|
NM_005120.3(MED12):c.2886C>T (p.Ser962=)
|
rs34761462
|
0.00604
|
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)
|
rs184420466
|
0.00604
|
NM_001037.5(SCN1B):c.-9C>A
|
rs66671189
|
0.00603
|
NM_201384.3(PLEC):c.2961C>T (p.Ser987=)
|
rs149932255
|
0.00603
|
NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr)
|
rs34973107
|
0.00602
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)
|
rs36023150
|
0.00602
|
NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr)
|
rs144632022
|
0.00602
|
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu)
|
rs73933023
|
0.00601
|
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys)
|
rs141536854
|
0.00601
|
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu)
|
rs186758849
|
0.00601
|
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)
|
rs28364441
|
0.00600
|
NM_002180.3(IGHMBP2):c.256+9G>A
|
rs118015540
|
0.00600
|
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=)
|
rs34735741
|
0.00600
|
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=)
|
rs75181912
|
0.00599
|
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala)
|
rs117804715
|
0.00599
|
NM_015102.5(NPHP4):c.1442-7C>T
|
rs146078470
|
0.00599
|
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)
|
rs121908970
|
0.00599
|
NM_130839.5(UBE3A):c.1185A>G (p.Glu395=)
|
rs114056442
|
0.00599
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=)
|
rs35854729
|
0.00598
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_012301.4(MAGI2):c.276C>G (p.Pro92=)
|
rs146012909
|
0.00597
|
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)
|
rs148450315
|
0.00596
|
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile)
|
rs147490060
|
0.00596
|
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys)
|
rs61733363
|
0.00596
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_001077365.2(POMT1):c.1826-40G>A
|
rs187443595
|
0.00596
|
NM_001277115.2(DNAH11):c.8266T>C (p.Cys2756Arg)
|
rs74667361
|
0.00596
|
NM_002764.4(PRPS1):c.477C>T (p.Ile159=)
|
rs61752962
|
0.00596
|
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)
|
rs117064287
|
0.00595
|
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)
|
rs16998350
|
0.00594
|
NM_014014.5(SNRNP200):c.5933G>C (p.Gly1978Ala)
|
rs75956769
|
0.00593
|
NM_054012.4(ASS1):c.106-10T>G
|
rs73541957
|
0.00593
|
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg)
|
rs36078476
|
0.00592
|
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)
|
rs61729366
|
0.00592
|
NM_001367721.1(CASK):c.363T>C (p.Tyr121=)
|
rs41431245
|
0.00591
|
NM_001849.4(COL6A2):c.2769C>T (p.His923=)
|
rs140419176
|
0.00591
|
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr)
|
rs148276213
|
0.00591
|
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys)
|
rs77675624
|
0.00591
|
NM_000492.4(CFTR):c.164+28A>G
|
rs34010645
|
0.00589
|
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala)
|
rs35884879
|
0.00589
|
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)
|
rs114126795
|
0.00589
|
NM_130837.3(OPA1):c.679-8C>T
|
rs114348597
|
0.00589
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00587
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly)
|
rs13406336
|
0.00586
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
NM_000287.4(PEX6):c.813G>T (p.Ala271=)
|
rs35503676
|
0.00583
|
NM_000249.4(MLH1):c.1038+51C>T
|
rs55986674
|
0.00582
|
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp)
|
rs80297119
|
0.00582
|
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)
|
rs150724610
|
0.00580
|
NM_032119.4(ADGRV1):c.2553+11T>A
|
rs73181640
|
0.00580
|
NM_182961.4(SYNE1):c.4789-13G>A
|
rs142900784
|
0.00579
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
NM_002256.4(KISS1):c.268C>G (p.His90Asp)
|
rs201073751
|
0.00578
|
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)
|
rs72554028
|
0.00578
|
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg)
|
rs149000560
|
0.00578
|
NM_000283.4(PDE6B):c.615C>T (p.Asp205=)
|
rs149293844
|
0.00577
|
NM_002435.3(MPI):c.982C>T (p.Arg328Trp)
|
rs117089191
|
0.00577
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
NM_024105.4(ALG12):c.645G>A (p.Pro215=)
|
rs12167668
|
0.00577
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)
|
rs148144444
|
0.00577
|
NM_130837.3(OPA1):c.420G>T (p.Val140=)
|
rs35801538
|
0.00577
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_000254.3(MTR):c.858C>T (p.Pro286=)
|
rs146019467
|
0.00576
|
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)
|
rs144624477
|
0.00576
|
NM_001134363.3(RBM20):c.1881-3C>T
|
rs138436392
|
0.00575
|
NM_001558.4(IL10RA):c.21G>C (p.Val7=)
|
rs4252301
|
0.00575
|
NM_022039.4(FBXW4):c.1410T>C (p.Tyr470=)
|
rs35614606
|
0.00575
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_006031.6(PCNT):c.8752-5A>C
|
rs149444205
|
0.00573
|
NM_014908.4(DOLK):c.1dup (p.Met1fs)
|
rs531969689
|
0.00573
|
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro)
|
rs61734466
|
0.00572
|
NM_016120.4(RLIM):c.777G>A (p.Thr259=)
|
rs148132680
|
0.00572
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys)
|
rs149248373
|
0.00571
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_000109.4(DMD):c.7+126819G>A
|
rs183089962
|
0.00569
|
NM_181882.3(PRX):c.133C>G (p.Arg45Gly)
|
rs115090201
|
0.00569
|
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)
|
rs34132016
|
0.00569
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)
|
rs34778324
|
0.00568
|
NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu)
|
rs116448422
|
0.00567
|
NM_001909.5(CTSD):c.846G>A (p.Gly282=)
|
rs112021026
|
0.00567
|
NM_023110.3(FGFR1):c.345C>T (p.Ser115=)
|
rs2915665
|
0.00567
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
NM_004273.5(CHST3):c.417C>T (p.Ala139=)
|
rs144287889
|
0.00564
|
NM_007373.4(SHOC2):c.1423-7C>T
|
rs180671383
|
0.00563
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_001848.3(COL6A1):c.739-18C>T
|
rs144843800
|
0.00561
|
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=)
|
rs74328058
|
0.00561
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_000018.4(ACADVL):c.636C>T (p.Ala212=)
|
rs76547988
|
0.00560
|
NM_000515.5(GH1):c.406G>A (p.Val136Ile)
|
rs5388
|
0.00560
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
NM_014244.5(ADAMTS2):c.1629+9G>A
|
rs115550684
|
0.00560
|
NM_025184.4(EFHC2):c.1519G>C (p.Glu507Gln)
|
rs3747354
|
0.00560
|
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)
|
rs79182085
|
0.00560
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)
|
rs138123155
|
0.00559
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
NM_016239.4(MYO15A):c.2790C>T (p.Asp930=)
|
rs185688918
|
0.00559
|
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)
|
rs117995220
|
0.00559
|
NM_000432.4(MYL2):c.381G>A (p.Ala127=)
|
rs2233261
|
0.00558
|
NM_005709.4(USH1C):c.1266G>A (p.Thr422=)
|
rs35188020
|
0.00558
|
NM_000036.3(AMPD1):c.1947T>C (p.Asp649=)
|
rs34287100
|
0.00557
|
NM_000426.4(LAMA2):c.4437-5T>A
|
rs41285288
|
0.00557
|
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=)
|
rs34948955
|
0.00557
|
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=)
|
rs115216455
|
0.00556
|
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr)
|
rs149601594
|
0.00556
|
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)
|
rs35495899
|
0.00555
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00555
|
NM_001457.4(FLNB):c.720C>T (p.Ala240=)
|
rs111433950
|
0.00554
|
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
|
rs147122501
|
0.00554
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
NM_198525.3(KIF7):c.1266C>G (p.Leu422=)
|
rs8030837
|
0.00552
|
NM_001379081.2(FREM1):c.3575G>A (p.Arg1192His)
|
rs79023327
|
0.00551
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser)
|
rs41317471
|
0.00550
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=)
|
rs35114079
|
0.00549
|
NM_012254.3(SLC27A5):c.336G>A (p.Pro112=)
|
rs145284710
|
0.00549
|
NM_014425.5(INVS):c.102C>T (p.Ile34=)
|
rs115640267
|
0.00549
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)
|
rs41311573
|
0.00548
|
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu)
|
rs150515843
|
0.00548
|
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=)
|
rs35089085
|
0.00547
|
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)
|
rs2307450
|
0.00547
|
NM_021625.5(TRPV4):c.1153-10C>T
|
rs149541389
|
0.00547
|
NM_001845.6(COL4A1):c.393G>A (p.Glu131=)
|
rs34458255
|
0.00546
|
NM_004006.3(DMD):c.2622+33A>G
|
rs72468678
|
0.00546
|
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=)
|
rs1992376
|
0.00546
|
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=)
|
rs148493518
|
0.00546
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
NM_024740.2(ALG9):c.1383C>T (p.Thr461=)
|
rs45516107
|
0.00545
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
NM_015631.6(TCTN3):c.630T>C (p.Ala210=)
|
rs41299157
|
0.00543
|
NM_006201.5(CDK16):c.-6-335C>G
|
rs727503843
|
0.00542
|
NM_014714.4(IFT140):c.4040+10C>T
|
rs138364426
|
0.00542
|
NM_178012.5(TUBB2B):c.330C>T (p.Ala110=)
|
rs141251993
|
0.00541
|
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)
|
rs73113975
|
0.00540
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
NM_001037.5(SCN1B):c.300C>T (p.Asp100=)
|
rs16969927
|
0.00539
|
NM_138694.4(PKHD1):c.2407+42T>G
|
rs78918693
|
0.00539
|
NM_000266.4(NDP):c.69C>G (p.Asp23Glu)
|
rs5952410
|
0.00538
|
NM_001061.7(TBXAS1):c.357G>A (p.Ser119=)
|
rs41275018
|
0.00538
|
NM_001201543.2(FAM161A):c.2122G>A (p.Glu708Lys)
|
rs77562614
|
0.00538
|
NM_004273.5(CHST3):c.1347C>T (p.Arg449=)
|
rs200249458
|
0.00538
|
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=)
|
rs144384573
|
0.00538
|
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=)
|
rs115338154
|
0.00537
|
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)
|
rs140916001
|
0.00537
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
0.00536
|
NM_006204.4(PDE6C):c.1936-9A>G
|
rs182445749
|
0.00536
|
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=)
|
rs115211871
|
0.00535
|
NM_003124.5(SPR):c.112G>A (p.Val38Ile)
|
rs146099322
|
0.00535
|
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=)
|
rs149796549
|
0.00535
|
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr)
|
rs62642053
|
0.00533
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)
|
rs149814240
|
0.00533
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_002863.5(PYGL):c.2112T>C (p.Ala704=)
|
rs35110875
|
0.00531
|
NM_000541.5(SAG):c.250C>T (p.Arg84Cys)
|
rs115857633
|
0.00530
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_016204.4(GDF2):c.911C>T (p.Thr304Met)
|
rs75024165
|
0.00530
|
NM_139315.3(TAF6):c.1722C>T (p.Thr574=)
|
rs145939245
|
0.00530
|
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser)
|
rs55971855
|
0.00530
|
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=)
|
rs150771329
|
0.00528
|
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro)
|
rs117070973
|
0.00528
|
NM_001848.3(COL6A1):c.1119+39C>T
|
rs74982956
|
0.00527
|
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)
|
rs61748364
|
0.00526
|
NM_014425.5(INVS):c.740A>G (p.Asn247Ser)
|
rs41312220
|
0.00526
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=)
|
rs188224114
|
0.00525
|
NM_001365951.3(KIF1B):c.2115+6956A>G
|
rs148481786
|
0.00525
|
NM_012418.4(FSCN2):c.1106-6C>T
|
rs11870517
|
0.00525
|
NM_024296.5(CCDC28B):c.463G>A (p.Gly155Arg)
|
rs140234450
|
0.00525
|
NM_001493.3(GDI1):c.154-3C>T
|
rs113696246
|
0.00524
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys)
|
rs113455884
|
0.00524
|
NM_182914.3(SYNE2):c.12378C>T (p.Ser4126=)
|
rs36007735
|
0.00524
|
NM_002617.4(PEX10):c.6C>G (p.Ala2=)
|
rs112471479
|
0.00523
|
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)
|
rs72655977
|
0.00522
|
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp)
|
rs114823319
|
0.00522
|
NM_000554.6(CRX):c.724G>A (p.Val242Met)
|
rs61748459
|
0.00521
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261
|
0.00521
|
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)
|
rs35012521
|
0.00520
|
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys)
|
rs76956231
|
0.00520
|
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931
|
0.00520
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00519
|
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=)
|
rs79720897
|
0.00518
|
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser)
|
rs139688311
|
0.00518
|
NM_138694.4(PKHD1):c.9829+10T>G
|
rs143526199
|
0.00518
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=)
|
rs61750975
|
0.00517
|
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556
|
0.00517
|
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
NM_138694.4(PKHD1):c.1964+17G>T
|
rs201349527
|
0.00517
|
NM_001377295.2(GNAT2):c.933T>C (p.Asn311=)
|
rs34723289
|
0.00516
|
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_024105.4(ALG12):c.698G>A (p.Arg233Gln)
|
rs114264124
|
0.00516
|
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)
|
rs115913736
|
0.00515
|
NM_007294.4(BRCA1):c.5406+8T>C
|
rs55946644
|
0.00514
|
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)
|
rs45589337
|
0.00513
|
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=)
|
rs145376880
|
0.00513
|
NM_000033.4(ABCD1):c.901-10C>T
|
rs2269365
|
0.00512
|
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)
|
rs41298747
|
0.00512
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_012254.3(SLC27A5):c.110T>G (p.Leu37Arg)
|
rs146147877
|
0.00512
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)
|
rs121917710
|
0.00511
|
NM_032634.4(PIGO):c.2040G>C (p.Leu680=)
|
rs41274877
|
0.00511
|
NM_133497.4(KCNV2):c.312T>C (p.Gly104=)
|
rs150685794
|
0.00511
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_000038.6(APC):c.1958+8T>C
|
rs62626346
|
0.00510
|
NM_000335.5(SCN5A):c.3508+10C>T
|
rs41258454
|
0.00510
|
NM_014639.4(SKIC3):c.585G>A (p.Lys195=)
|
rs73147944
|
0.00510
|
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=)
|
rs148170949
|
0.00509
|
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=)
|
rs17419023
|
0.00508
|
NM_002863.5(PYGL):c.176C>T (p.Thr59Met)
|
rs150483902
|
0.00507
|
NM_005045.4(RELN):c.6084C>T (p.Gly2028=)
|
rs114019779
|
0.00507
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)
|
rs117061430
|
0.00506
|
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe)
|
rs113470661
|
0.00506
|
NM_012254.3(SLC27A5):c.2006C>G (p.Ala669Gly)
|
rs145618122
|
0.00506
|
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=)
|
rs139587368
|
0.00506
|
NM_000038.6(APC):c.532-32T>C
|
rs112108777
|
0.00505
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
NM_000369.5(TSHR):c.106G>C (p.Asp36His)
|
rs61747482
|
0.00505
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
NM_000744.7(CHRNA4):c.76+18G>T
|
rs199908363
|
0.00504
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
NM_032578.4(MYPN):c.1134C>T (p.Ile378=)
|
rs145701607
|
0.00504
|
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)
|
rs79970751
|
0.00503
|
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His)
|
rs112010940
|
0.00503
|
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser)
|
rs113897824
|
0.00503
|
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys)
|
rs77303974
|
0.00503
|
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)
|
rs61731465
|
0.00502
|
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)
|
rs147404470
|
0.00501
|
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu)
|
rs114918858
|
0.00501
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)
|
rs61876771
|
0.00500
|
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)
|
rs72782753
|
0.00500
|
NM_003476.5(CSRP3):c.213C>T (p.Ile71=)
|
rs45476991
|
0.00499
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
0.00499
|
NM_020223.4(FAM20C):c.646G>A (p.Gly216Arg)
|
rs61734970
|
0.00499
|
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)
|
rs56056823
|
0.00499
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)
|
rs79087668
|
0.00498
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_001379081.2(FREM1):c.2274C>A (p.Gly758=)
|
rs12235714
|
0.00497
|
NM_006915.3(RP2):c.260C>T (p.Thr87Ile)
|
rs147783915
|
0.00496
|
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)
|
rs140785104
|
0.00496
|
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)
|
rs117609395
|
0.00495
|
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)
|
rs149313666
|
0.00495
|
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)
|
rs138642043
|
0.00495
|
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr)
|
rs45441199
|
0.00494
|
NM_006158.5(NEFL):c.667C>T (p.Leu223=)
|
rs60156239
|
0.00494
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
NM_001851.6(COL9A1):c.1656T>C (p.Pro552=)
|
rs80251646
|
0.00493
|
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)
|
rs59286323
|
0.00493
|
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala)
|
rs75831573
|
0.00493
|
NM_000541.5(SAG):c.301G>A (p.Ala101Thr)
|
rs141521563
|
0.00492
|
NM_000798.5(DRD5):c.262C>T (p.Leu88Phe)
|
rs148402761
|
0.00492
|
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu)
|
rs17216670
|
0.00492
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)
|
rs114626713
|
0.00491
|
NM_003106.4(SOX2):c.453G>A (p.Ala151=)
|
rs74480245
|
0.00491
|
NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=)
|
rs35003467
|
0.00491
|
NM_006420.3(ARFGEF2):c.423+3A>G
|
rs2295029
|
0.00491
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)
|
rs56013867
|
0.00491
|
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=)
|
rs45624933
|
0.00490
|
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser)
|
rs145178162
|
0.00490
|
NM_005477.3(HCN4):c.3288C>T (p.Asp1096=)
|
rs116042117
|
0.00490
|
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys)
|
rs144665682
|
0.00490
|
NM_000377.3(WAS):c.995T>C (p.Val332Ala)
|
rs2737799
|
0.00489
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_000202.8(IDS):c.925A>G (p.Thr309Ala)
|
rs145807417
|
0.00488
|
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)
|
rs79544660
|
0.00488
|
NM_006306.4(SMC1A):c.699G>A (p.Val233=)
|
rs145319852
|
0.00488
|
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=)
|
rs113849788
|
0.00488
|
NM_012418.4(FSCN2):c.1425C>A (p.Gly475=)
|
rs398123553
|
0.00488
|
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)
|
rs17849927
|
0.00488
|
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met)
|
rs34830061
|
0.00488
|
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=)
|
rs111033378
|
0.00488
|
NM_000080.4(CHRNE):c.*6A>G
|
rs55806270
|
0.00487
|
NM_001698.3(AUH):c.182C>A (p.Pro61His)
|
rs181327211
|
0.00487
|
NM_004999.4(MYO6):c.2982G>A (p.Glu994=)
|
rs55905349
|
0.00487
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)
|
rs147891446
|
0.00486
|
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser)
|
rs192628905
|
0.00486
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)
|
rs140403186
|
0.00485
|
NM_014425.5(INVS):c.725C>T (p.Ser242Leu)
|
rs2491097
|
0.00485
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys)
|
rs138139146
|
0.00483
|
NM_001374353.1(GLI2):c.720C>T (p.Asp240=)
|
rs142793481
|
0.00483
|
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=)
|
rs79313758
|
0.00483
|
NM_021120.4(DLG3):c.357+16G>A
|
rs72549425
|
0.00482
|
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)
|
rs140065359
|
0.00482
|
NM_001277115.2(DNAH11):c.8362C>G (p.His2788Asp)
|
rs147478795
|
0.00481
|
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=)
|
rs116302604
|
0.00481
|
NM_017950.4(CCDC40):c.630C>T (p.Ser210=)
|
rs117419007
|
0.00481
|
NM_001399.5(EDA):c.381C>T (p.Ser127=)
|
rs148738342
|
0.00480
|
NM_004273.5(CHST3):c.561G>C (p.Val187=)
|
rs147804585
|
0.00480
|
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=)
|
rs61073355
|
0.00480
|
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)
|
rs145806603
|
0.00479
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp)
|
rs114203198
|
0.00479
|
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr)
|
rs116996553
|
0.00479
|
NM_207352.4(CYP4V2):c.*4T>C
|
rs76978024
|
0.00479
|
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=)
|
rs116130182
|
0.00478
|
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=)
|
rs142315727
|
0.00478
|
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=)
|
rs12721379
|
0.00478
|
NM_018006.5(TRMU):c.387A>G (p.Ala129=)
|
rs144586525
|
0.00478
|
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=)
|
rs114241603
|
0.00477
|
NM_022455.5(NSD1):c.1792T>C (p.Leu598=)
|
rs28932176
|
0.00477
|
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly)
|
rs61752484
|
0.00477
|
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)
|
rs201574732
|
0.00477
|
NM_001377.3(DYNC2H1):c.3097-4A>G
|
rs368802969
|
0.00476
|
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)
|
rs1801710
|
0.00475
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)
|
rs117931394
|
0.00474
|
NM_001190417.2(ZNF674):c.884G>A (p.Arg295Gln)
|
rs187237351
|
0.00473
|
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)
|
rs34211419
|
0.00473
|
NM_015295.3(SMCHD1):c.2147-7C>T
|
rs113524119
|
0.00473
|
NM_000451.4(SHOX):c.63C>T (p.Gly21=)
|
rs142306835
|
0.00472
|
NM_000501.4(ELN):c.493G>T (p.Val165Leu)
|
rs61734581
|
0.00472
|
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys)
|
rs61758995
|
0.00472
|
NM_001330078.2(NRXN1):c.1760-16C>T
|
rs79422704
|
0.00472
|
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)
|
rs146292575
|
0.00472
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr)
|
rs144830740
|
0.00471
|
NM_133642.5(LARGE1):c.892+50C>T
|
rs62225294
|
0.00471
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
NM_001379286.1(ZNF423):c.1986C>T (p.His662=)
|
rs75294107
|
0.00469
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
NM_005045.4(RELN):c.3712A>C (p.Asn1238His)
|
rs114003896
|
0.00468
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868
|
0.00467
|
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=)
|
rs2274097
|
0.00466
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile)
|
rs147543583
|
0.00466
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile)
|
rs146467786
|
0.00465
|
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe)
|
rs146207623
|
0.00465
|
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=)
|
rs61739663
|
0.00465
|
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg)
|
rs139854607
|
0.00464
|
NM_001130987.2(DYSF):c.777C>T (p.Ile259=)
|
rs138054675
|
0.00464
|
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)
|
rs182322608
|
0.00464
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
NM_006013.5(RPL10):c.23+9T>A
|
rs2070820
|
0.00463
|
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser)
|
rs146651455
|
0.00463
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val)
|
rs77539990
|
0.00463
|
NM_014845.6(FIG4):c.66+10C>T
|
rs200063827
|
0.00462
|
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys)
|
rs200842904
|
0.00462
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=)
|
rs112372281
|
0.00461
|
NM_000823.4(GHRHR):c.741C>T (p.Leu247=)
|
rs151019928
|
0.00461
|
NM_001035.3(RYR2):c.1863C>T (p.His621=)
|
rs17686573
|
0.00461
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His)
|
rs150598363
|
0.00461
|
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=)
|
rs146387723
|
0.00460
|
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His)
|
rs200351672
|
0.00460
|
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)
|
rs75639119
|
0.00460
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)
|
rs34563188
|
0.00460
|
NM_015102.5(NPHP4):c.2812G>A (p.Val938Met)
|
rs184961418
|
0.00460
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_000271.5(NPC1):c.3535A>G (p.Met1179Val)
|
rs61731969
|
0.00459
|
NM_001386795.1(DTNA):c.210G>A (p.Leu70=)
|
rs117571555
|
0.00459
|
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser)
|
rs78690642
|
0.00459
|
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile)
|
rs56086732
|
0.00458
|
NM_006269.2(RP1):c.616-6T>C
|
rs186571865
|
0.00458
|
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
|
rs118066140
|
0.00457
|
NM_004369.4(COL6A3):c.6592-27del
|
rs60436236
|
0.00457
|
NM_000540.3(RYR1):c.11034+20G>T
|
rs186460831
|
0.00456
|
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)
|
rs116401889
|
0.00456
|
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile)
|
rs143872329
|
0.00456
|
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)
|
rs115166595
|
0.00455
|
NM_014141.6(CNTNAP2):c.3382-7C>T
|
rs189589051
|
0.00454
|
NM_130839.5(UBE3A):c.2124+9T>C
|
rs79328837
|
0.00454
|
NM_001193315.2(VIPAS39):c.1242G>A (p.Leu414=)
|
rs45447095
|
0.00453
|
NM_006445.4(PRPF8):c.101-3C>T
|
rs75670228
|
0.00453
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)
|
rs111033338
|
0.00452
|
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470
|
0.00452
|
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)
|
rs75029862
|
0.00451
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=)
|
rs141478957
|
0.00451
|
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=)
|
rs12140044
|
0.00451
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00450
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile)
|
rs114629728
|
0.00449
|
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=)
|
rs34854594
|
0.00449
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu)
|
rs142855299
|
0.00448
|
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser)
|
rs114364265
|
0.00448
|
NM_182894.3(VSX2):c.299C>A (p.Pro100Gln)
|
rs35214083
|
0.00448
|
NM_001360.3(DHCR7):c.1008C>T (p.His336=)
|
rs75225632
|
0.00447
|
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
|
rs140463385
|
0.00447
|
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=)
|
rs112864477
|
0.00446
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=)
|
rs142259966
|
0.00445
|
NM_000492.4(CFTR):c.3718-2530A>G
|
rs213990
|
0.00445
|
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=)
|
rs73640833
|
0.00445
|
NM_002381.5(MATN3):c.62T>G (p.Leu21Arg)
|
rs573907581
|
0.00445
|
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)
|
rs35647984
|
0.00445
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr)
|
rs141639885
|
0.00444
|
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln)
|
rs34161789
|
0.00444
|
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)
|
rs144513453
|
0.00443
|
NM_138959.3(VANGL1):c.435T>C (p.Cys145=)
|
rs34768472
|
0.00443
|
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)
|
rs187783545
|
0.00443
|
NM_014000.3(VCL):c.1317T>C (p.Ser439=)
|
rs71579355
|
0.00442
|
NM_139125.4(MASP1):c.1746G>A (p.Pro582=)
|
rs3821805
|
0.00442
|
NM_172364.5(CACNA2D4):c.2189C>T (p.Ala730Val)
|
rs181994120
|
0.00442
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)
|
rs41300676
|
0.00441
|
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=)
|
rs149639365
|
0.00441
|
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met)
|
rs377665141
|
0.00440
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln)
|
rs188076386
|
0.00439
|
NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg)
|
rs142411445
|
0.00438
|
NM_001384140.1(PCDH15):c.4671+1087C>T
|
rs12359240
|
0.00438
|
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)
|
rs111231885
|
0.00438
|
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser)
|
rs112906840
|
0.00438
|
NM_007214.5(SEC63):c.340-12G>T
|
rs2064201
|
0.00438
|
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys)
|
rs62224222
|
0.00437
|
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)
|
rs138628273
|
0.00437
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000390.4(CHM):c.1488G>A (p.Thr496=)
|
rs74349919
|
0.00436
|
NM_001170629.2(CHD8):c.27C>T (p.Phe9=)
|
rs75191413
|
0.00436
|
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=)
|
rs147426569
|
0.00436
|
NM_002473.6(MYH9):c.1083C>T (p.Asp361=)
|
rs56001030
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_001189.4(NKX3-2):c.942G>C (p.Pro314=)
|
rs111283169
|
0.00435
|
NM_001319074.4(RAX2):c.45T>G (p.Gly15=)
|
rs139127905
|
0.00435
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)
|
rs28384988
|
0.00434
|
NM_005562.3(LAMC2):c.2754+9T>C
|
rs113467864
|
0.00434
|
NM_182914.3(SYNE2):c.6321C>T (p.Ser2107=)
|
rs143410137
|
0.00434
|
NM_194248.3(OTOF):c.2215-19C>G
|
rs111033427
|
0.00434
|
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)
|
rs181733689
|
0.00433
|
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)
|
rs116794104
|
0.00432
|
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)
|
rs114750216
|
0.00432
|
NM_001966.4(EHHADH):c.2117A>T (p.Asn706Ile)
|
rs56056620
|
0.00431
|
NM_004369.4(COL6A3):c.9069C>T (p.Thr3023=)
|
rs111234422
|
0.00431
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe)
|
rs141796889
|
0.00430
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)
|
rs35851478
|
0.00429
|
NM_002857.4(PEX19):c.771+3A>G
|
rs141133579
|
0.00429
|
NM_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919
|
0.00429
|
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)
|
rs138259457
|
0.00428
|
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)
|
rs147315081
|
0.00427
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_001291415.2(KDM6A):c.3834T>C (p.His1278=)
|
rs138989066
|
0.00426
|
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=)
|
rs116343553
|
0.00426
|
NM_014780.5(CUL7):c.5088C>T (p.Thr1696=)
|
rs73733789
|
0.00426
|
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=)
|
rs117771893
|
0.00426
|
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys)
|
rs146461956
|
0.00424
|
NM_015404.4(WHRN):c.2586C>A (p.His862Gln)
|
rs117592152
|
0.00424
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)
|
rs191736346
|
0.00423
|
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp)
|
rs141865394
|
0.00423
|
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=)
|
rs200451188
|
0.00422
|
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=)
|
rs140004449
|
0.00422
|
NM_001354768.3(NRL):c.711C>G (p.Leu237=)
|
rs8009051
|
0.00422
|
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)
|
rs61741524
|
0.00422
|
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr)
|
rs147688306
|
0.00422
|
NM_153252.5(BRWD3):c.33G>A (p.Glu11=)
|
rs139071237
|
0.00422
|
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)
|
rs2229035
|
0.00421
|
NM_004369.4(COL6A3):c.8735C>T (p.Pro2912Leu)
|
rs112928650
|
0.00421
|
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=)
|
rs61529674
|
0.00421
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_002437.5(MPV17):c.27G>T (p.Arg9=)
|
rs35244252
|
0.00420
|
NM_002768.5(CHMP1A):c.27+10G>A
|
rs140547967
|
0.00420
|
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile)
|
rs149244006
|
0.00420
|
NM_000036.3(AMPD1):c.1845C>T (p.Ile615=)
|
rs34257411
|
0.00419
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_020822.3(KCNT1):c.30G>A (p.Pro10=)
|
rs139034501
|
0.00419
|
NM_021072.4(HCN1):c.1797A>G (p.Ser599=)
|
rs148932124
|
0.00419
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_000036.3(AMPD1):c.1911C>T (p.Phe637=)
|
rs34778674
|
0.00417
|
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)
|
rs78795178
|
0.00417
|
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=)
|
rs199689791
|
0.00417
|
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser)
|
rs199760004
|
0.00417
|
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu)
|
rs35811023
|
0.00416
|
NM_005477.3(HCN4):c.2831C>T (p.Ala944Val)
|
rs144450232
|
0.00416
|
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=)
|
rs116537677
|
0.00415
|
NM_001256789.3(CACNA1F):c.5829C>T (p.Asp1943=)
|
rs138189763
|
0.00415
|
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=)
|
rs75413741
|
0.00415
|
NM_012448.4(STAT5B):c.247C>T (p.Leu83=)
|
rs146176992
|
0.00415
|
NM_000141.5(FGFR2):c.159G>A (p.Ala53=)
|
rs1047102
|
0.00414
|
NM_000426.4(LAMA2):c.3556-15T>G
|
rs17741922
|
0.00414
|
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)
|
rs61735357
|
0.00414
|
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)
|
rs115004914
|
0.00414
|
NM_001458.5(FLNC):c.1902G>A (p.Glu634=)
|
rs12536635
|
0.00414
|
NM_031448.6(C19orf12):c.69G>A (p.Ala23=)
|
rs201118405
|
0.00414
|
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)
|
rs149459739
|
0.00414
|
NM_181332.3(NLGN4X):c.558C>T (p.Asp186=)
|
rs145911431
|
0.00414
|
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=)
|
rs56245532
|
0.00414
|
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)
|
rs72549416
|
0.00413
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)
|
rs61753725
|
0.00412
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)
|
rs139904931
|
0.00411
|
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val)
|
rs118056333
|
0.00410
|
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr)
|
rs148772854
|
0.00409
|
NM_014249.4(NR2E3):c.245+8C>T
|
rs9920371
|
0.00409
|
NM_201384.3(PLEC):c.13402G>A (p.Ala4468Thr)
|
rs112322162
|
0.00409
|
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)
|
rs111033476
|
0.00408
|
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=)
|
rs150027129
|
0.00408
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00407
|
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=)
|
rs112968165
|
0.00406
|
NM_007254.4(PNKP):c.1032G>A (p.Arg344=)
|
rs185452809
|
0.00406
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala)
|
rs150918383
|
0.00405
|
NM_000117.3(EMD):c.465C>T (p.Tyr155=)
|
rs143447675
|
0.00404
|
NM_001145809.2(MYH14):c.2763A>G (p.Lys921=)
|
rs191788683
|
0.00404
|
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His)
|
rs35106300
|
0.00404
|
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser)
|
rs137876961
|
0.00404
|
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=)
|
rs115735672
|
0.00404
|
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=)
|
rs146381488
|
0.00404
|
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg)
|
rs146704802
|
0.00404
|
NM_206933.4(USH2A):c.8937A>G (p.Val2979=)
|
rs139100097
|
0.00404
|
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)
|
rs146789160
|
0.00403
|
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp)
|
rs144610086
|
0.00403
|
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=)
|
rs142243054
|
0.00402
|
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val)
|
rs190995850
|
0.00402
|
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly)
|
rs117480926
|
0.00402
|
NM_020184.4(CNNM4):c.399G>A (p.Val133=)
|
rs34147094
|
0.00402
|
NM_000203.5(IDUA):c.1190-17_1190-16insA
|
rs201559436
|
0.00401
|
NM_001848.3(COL6A1):c.1335+20G>C
|
rs9306146
|
0.00401
|
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=)
|
rs191649793
|
0.00401
|
NM_021120.4(DLG3):c.304G>A (p.Gly102Ser)
|
rs11797456
|
0.00401
|
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr)
|
rs62641756
|
0.00401
|
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg)
|
rs201621696
|
0.00400
|
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)
|
rs56169243
|
0.00400
|
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val)
|
rs113208290
|
0.00400
|
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=)
|
rs116601686
|
0.00399
|
NM_004333.6(BRAF):c.1383A>G (p.Gln461=)
|
rs56216404
|
0.00399
|
NM_004595.5(SMS):c.1026A>C (p.Ser342=)
|
rs61732077
|
0.00399
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu)
|
rs201051863
|
0.00399
|
NM_000515.5(GH1):c.150C>A (p.Ala50=)
|
rs61735359
|
0.00398
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00398
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)
|
rs141340867
|
0.00398
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00397
|
NM_145167.3(PIGM):c.6C>T (p.Gly2=)
|
rs61757715
|
0.00397
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val)
|
rs113716915
|
0.00396
|
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr)
|
rs55814513
|
0.00396
|
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)
|
rs139367209
|
0.00396
|
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=)
|
rs150686744
|
0.00396
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=)
|
rs145677050
|
0.00395
|
NM_001701.4(BAAT):c.951G>A (p.Gln317=)
|
rs61756326
|
0.00395
|
NM_152617.4(RNF168):c.1237G>A (p.Glu413Lys)
|
rs6790173
|
0.00395
|
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=)
|
rs140861713
|
0.00395
|
NM_001848.3(COL6A1):c.1813+25T>G
|
rs191946565
|
0.00394
|
NM_003482.4(KMT2D):c.8064G>A (p.Glu2688=)
|
rs148457961
|
0.00394
|
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)
|
rs35225609
|
0.00394
|
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)
|
rs147452898
|
0.00394
|
NM_000440.3(PDE6A):c.933+4C>T
|
rs12109444
|
0.00393
|
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=)
|
rs140248383
|
0.00393
|
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp)
|
rs76537761
|
0.00392
|
NM_004369.4(COL6A3):c.4285+17G>A
|
rs3791000
|
0.00392
|
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=)
|
rs113074898
|
0.00392
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
NM_001378414.1(HDAC4):c.955G>A (p.Ala319Thr)
|
rs76224543
|
0.00391
|
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe)
|
rs76014951
|
0.00391
|
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=)
|
rs142049079
|
0.00390
|
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr)
|
rs35348691
|
0.00390
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser)
|
rs147542347
|
0.00389
|
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro)
|
rs147947060
|
0.00389
|
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)
|
rs35227432
|
0.00389
|
NM_005476.7(GNE):c.624T>G (p.Asp208Glu)
|
rs35224402
|
0.00389
|
NM_006005.3(WFS1):c.917T>C (p.Met306Thr)
|
rs146114074
|
0.00389
|
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys)
|
rs41276187
|
0.00389
|
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)
|
rs148990271
|
0.00389
|
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr)
|
rs182595458
|
0.00389
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val)
|
rs140812293
|
0.00388
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile)
|
rs111859552
|
0.00388
|
NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=)
|
rs112382351
|
0.00388
|
NM_006899.5(IDH3B):c.117+6C>A
|
rs191680997
|
0.00388
|
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr)
|
rs186692362
|
0.00388
|
NM_001372044.2(SHANK3):c.3588C>T (p.Ser1196=)
|
rs200077311
|
0.00387
|
NM_001384910.1(GUCA1A):c.9C>T (p.Asn3=)
|
rs116114043
|
0.00387
|
NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=)
|
rs11573942
|
0.00387
|
NM_004369.4(COL6A3):c.6211-3C>T
|
rs139622600
|
0.00387
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_001291867.2(NHS):c.2831A>T (p.His944Leu)
|
rs149244552
|
0.00386
|
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=)
|
rs201531206
|
0.00386
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
NM_181332.3(NLGN4X):c.2280C>T (p.Tyr760=)
|
rs75350246
|
0.00384
|
NM_000052.7(ATP7A):c.4226+11T>C
|
rs200009243
|
0.00383
|
NM_000550.3(TYRP1):c.977G>A (p.Arg326His)
|
rs16929374
|
0.00383
|
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)
|
rs41288017
|
0.00383
|
NM_001379110.1(SLC9A6):c.-57+50G>T
|
rs201523857
|
0.00383
|
NM_003392.7(WNT5A):c.588C>T (p.Phe196=)
|
rs200868061
|
0.00383
|
NM_016616.5(NME8):c.739G>A (p.Glu247Lys)
|
rs139516225
|
0.00383
|
NM_000195.5(HPS1):c.597C>T (p.Pro199=)
|
rs113520308
|
0.00382
|
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)
|
rs77357563
|
0.00382
|
NM_000381.4(MID1):c.861G>A (p.Gly287=)
|
rs147909430
|
0.00381
|
NM_006790.3(MYOT):c.1008G>T (p.Val336=)
|
rs142828368
|
0.00381
|
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)
|
rs190981860
|
0.00381
|
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=)
|
rs141424852
|
0.00381
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
NM_001194998.2(CEP152):c.4094-9A>T
|
rs80090788
|
0.00380
|
NM_000169.3(GLA):c.194+17A>G
|
rs2071226
|
0.00379
|
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)
|
rs199646135
|
0.00379
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
NM_014008.5(CCDC22):c.1163G>A (p.Arg388His)
|
rs113045747
|
0.00379
|
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=)
|
rs376497158
|
0.00379
|
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350
|
0.00379
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser)
|
rs35045430
|
0.00378
|
NM_000875.5(IGF1R):c.1950G>T (p.Arg650=)
|
rs56294552
|
0.00378
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892
|
0.00378
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn)
|
rs112306225
|
0.00377
|
NM_000193.4(SHH):c.897G>C (p.Leu299=)
|
rs9333635
|
0.00376
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_000381.4(MID1):c.498G>A (p.Pro166=)
|
rs7391874
|
0.00376
|
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=)
|
rs147268650
|
0.00376
|
NM_000327.4(ROM1):c.686G>A (p.Arg229His)
|
rs150168119
|
0.00375
|
NM_017534.6(MYH2):c.4989G>A (p.Leu1663=)
|
rs61736461
|
0.00375
|
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)
|
rs41313282
|
0.00375
|
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)
|
rs61764067
|
0.00375
|
NM_000381.4(MID1):c.1299G>A (p.Ser433=)
|
rs143673869
|
0.00374
|
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
|
rs2723669
|
0.00374
|
NM_201384.3(PLEC):c.6513G>A (p.Lys2171=)
|
rs184102912
|
0.00374
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro)
|
rs115832709
|
0.00373
|
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
NM_004463.3(FGD1):c.110C>T (p.Ala37Val)
|
rs75659311
|
0.00373
|
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln)
|
rs78889849
|
0.00373
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)
|
rs144511230
|
0.00372
|
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)
|
rs45586138
|
0.00372
|
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)
|
rs145199539
|
0.00372
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe)
|
rs143691289
|
0.00371
|
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)
|
rs141756032
|
0.00371
|
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)
|
rs142178073
|
0.00371
|
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)
|
rs36078464
|
0.00371
|
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=)
|
rs61732788
|
0.00371
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)
|
rs201593811
|
0.00370
|
NM_024915.4(GRHL2):c.1098+9C>T
|
rs189993760
|
0.00370
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val)
|
rs142729495
|
0.00369
|
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn)
|
rs149202379
|
0.00369
|
NM_002471.4(MYH6):c.4395G>A (p.Ser1465=)
|
rs74039310
|
0.00368
|
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn)
|
rs111033494
|
0.00368
|
NM_005122.5(NR1I3):c.930G>A (p.Ala310=)
|
rs36017137
|
0.00367
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)
|
rs149775942
|
0.00366
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro)
|
rs148900528
|
0.00366
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)
|
rs55940366
|
0.00365
|
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)
|
rs187333111
|
0.00365
|
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00365
|
NM_001849.4(COL6A2):c.2886C>T (p.His962=)
|
rs115970356
|
0.00365
|
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys)
|
rs145595957
|
0.00365
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)
|
rs79572315
|
0.00364
|
NM_207361.6(FREM2):c.6925+7G>T
|
rs79530106
|
0.00364
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
NM_000287.4(PEX6):c.1071A>G (p.Leu357=)
|
rs116318004
|
0.00363
|
NM_001164508.2(NEB):c.1413C>T (p.Phe471=)
|
rs112958786
|
0.00363
|
NM_001277313.2(FMN1):c.2614C>T (p.Pro872Ser)
|
rs77531455
|
0.00363
|
NM_001453.3(FOXC1):c.502C>T (p.Leu168=)
|
rs148739656
|
0.00363
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=)
|
rs113961575
|
0.00363
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)
|
rs9282671
|
0.00362
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_001852.4(COL9A2):c.31C>T (p.Leu11Phe)
|
rs74506933
|
0.00361
|
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)
|
rs2229860
|
0.00361
|
NM_015311.3(OBSL1):c.569C>G (p.Ala190Gly)
|
rs148433261
|
0.00361
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_001015877.2(PHF6):c.374+8T>C
|
rs142596708
|
0.00360
|
NM_001457.4(FLNB):c.2382C>T (p.Asp794=)
|
rs146159035
|
0.00360
|
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=)
|
rs112040282
|
0.00360
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly)
|
rs113641837
|
0.00359
|
NM_000360.4(TH):c.267G>A (p.Arg89=)
|
rs76240471
|
0.00359
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)
|
rs112350099
|
0.00359
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=)
|
rs141225367
|
0.00359
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00358
|
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)
|
rs147027229
|
0.00358
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)
|
rs143179070
|
0.00358
|
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=)
|
rs150900416
|
0.00357
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn)
|
rs75467696
|
0.00357
|
NM_014874.4(MFN2):c.975C>T (p.Gly325=)
|
rs141475476
|
0.00357
|
NM_030665.4(RAI1):c.837G>A (p.Gln279=)
|
rs11078398
|
0.00357
|
NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
|
rs116514447
|
0.00357
|
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)
|
rs2227944
|
0.00356
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser)
|
rs3827462
|
0.00356
|
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)
|
rs74447004
|
0.00356
|
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)
|
rs148509395
|
0.00356
|
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)
|
rs2227943
|
0.00355
|
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu)
|
rs17222561
|
0.00355
|
NM_001323289.2(CDKL5):c.145+17A>G
|
rs199814742
|
0.00355
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
0.00355
|
NM_004453.4(ETFDH):c.381C>T (p.Leu127=)
|
rs149278633
|
0.00355
|
NM_201596.3(CACNB2):c.873G>A (p.Leu291=)
|
rs138423466
|
0.00355
|
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr)
|
rs11547387
|
0.00354
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=)
|
rs375709463
|
0.00354
|
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)
|
rs115631125
|
0.00354
|
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)
|
rs72648964
|
0.00354
|
NM_001379180.1(ESRRB):c.*1474T>C
|
rs188462546
|
0.00354
|
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser)
|
rs559756386
|
0.00354
|
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)
|
rs56002719
|
0.00354
|
NM_017668.3(NDE1):c.486C>T (p.Leu162=)
|
rs140251634
|
0.00354
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995
|
0.00354
|
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)
|
rs111293777
|
0.00354
|
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)
|
rs77211159
|
0.00354
|
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=)
|
rs16903511
|
0.00353
|
NM_004260.4(RECQL4):c.543G>A (p.Gln181=)
|
rs34159914
|
0.00353
|
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=)
|
rs113066678
|
0.00353
|
NM_007254.4(PNKP):c.783G>A (p.Pro261=)
|
rs145307985
|
0.00353
|
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=)
|
rs3214060
|
0.00353
|
NM_000195.5(HPS1):c.*12C>T
|
rs112544050
|
0.00352
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)
|
rs41313697
|
0.00352
|
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)
|
rs144372453
|
0.00352
|
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)
|
rs16903514
|
0.00352
|
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg)
|
rs146329532
|
0.00352
|
NM_003835.4(RGS9):c.773C>T (p.Ser258Leu)
|
rs12452285
|
0.00352
|
NM_005477.3(HCN4):c.2601C>A (p.Ala867=)
|
rs143188160
|
0.00352
|
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val)
|
rs200575377
|
0.00352
|
NM_198506.5(LRIT3):c.1442C>T (p.Thr481Met)
|
rs116570736
|
0.00352
|
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)
|
rs150677536
|
0.00351
|
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=)
|
rs2228074
|
0.00351
|
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu)
|
rs3732309
|
0.00351
|
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)
|
rs149028586
|
0.00351
|
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)
|
rs45548237
|
0.00350
|
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)
|
rs148975763
|
0.00350
|
NM_021939.4(FKBP10):c.504C>T (p.Pro168=)
|
rs113640022
|
0.00350
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=)
|
rs148902254
|
0.00349
|
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)
|
rs17027133
|
0.00349
|
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=)
|
rs115163637
|
0.00349
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00348
|
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr)
|
rs146416468
|
0.00348
|
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala)
|
rs117271684
|
0.00348
|
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)
|
rs77706858
|
0.00348
|
NM_000048.4(ASL):c.556C>A (p.Arg186=)
|
rs111407265
|
0.00347
|
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=)
|
rs1803915
|
0.00347
|
NM_000501.4(ELN):c.892G>A (p.Val298Ile)
|
rs41526244
|
0.00347
|
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln)
|
rs114351116
|
0.00347
|
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=)
|
rs114554195
|
0.00347
|
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
|
rs144983062
|
0.00347
|
NM_002693.3(POLG):c.1126C>T (p.Leu376=)
|
rs116165908
|
0.00347
|
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn)
|
rs114223739
|
0.00347
|
NM_000057.4(BLM):c.893C>T (p.Thr298Met)
|
rs28384991
|
0.00346
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp)
|
rs117048449
|
0.00346
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
NM_000666.3(ACY1):c.1178G>A (p.Arg393His)
|
rs121912701
|
0.00345
|
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu)
|
rs146076380
|
0.00345
|
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=)
|
rs117237998
|
0.00345
|
NM_000261.2(MYOC):c.855G>T (p.Thr285=)
|
rs146606638
|
0.00344
|
NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=)
|
rs79374915
|
0.00344
|
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)
|
rs202082545
|
0.00344
|
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His)
|
rs34067949
|
0.00344
|
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu)
|
rs35219594
|
0.00344
|
NM_031433.4(MFRP):c.629G>T (p.Gly210Val)
|
rs150902999
|
0.00344
|
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)
|
rs145809663
|
0.00344
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00343
|
NM_001849.4(COL6A2):c.510C>T (p.Cys170=)
|
rs142328765
|
0.00343
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
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_000271.5(NPC1):c.2795+19T>C
|
rs200103695
|
0.00342
|
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val)
|
rs115279465
|
0.00342
|
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=)
|
rs148674729
|
0.00342
|
NM_001849.4(COL6A2):c.1116+22C>T
|
rs111592472
|
0.00341
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)
|
rs73198165
|
0.00341
|
NM_194248.3(OTOF):c.2215-77T>G
|
rs76130130
|
0.00341
|
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=)
|
rs55916957
|
0.00340
|
NM_000252.3(MTM1):c.64-14T>C
|
rs184956219
|
0.00340
|
NM_012254.3(SLC27A5):c.641C>T (p.Ala214Val)
|
rs113904799
|
0.00340
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=)
|
rs114766691
|
0.00339
|
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=)
|
rs145588542
|
0.00339
|
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=)
|
rs35911211
|
0.00339
|
NM_021101.5(CLDN1):c.15G>A (p.Gly5=)
|
rs78025997
|
0.00339
|
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=)
|
rs144513373
|
0.00339
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
NM_016492.5(RANGRF):c.268T>C (p.Leu90=)
|
rs138959557
|
0.00338
|
NM_022095.4(ZNF335):c.3488-6G>A
|
rs201983124
|
0.00338
|
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)
|
rs116413446
|
0.00337
|
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)
|
rs139600783
|
0.00337
|
NM_031935.3(HMCN1):c.114G>T (p.Gly38=)
|
rs115169621
|
0.00337
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228
|
0.00336
|
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)
|
rs116204385
|
0.00336
|
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=)
|
rs56338023
|
0.00336
|
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)
|
rs56165709
|
0.00336
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00335
|
NM_021116.4(ADCY1):c.2327+6T>A
|
rs75860455
|
0.00335
|
NM_175875.5(SIX5):c.732G>A (p.Gln244=)
|
rs141944211
|
0.00335
|
NM_001101.5(ACTB):c.-6-4G>T
|
rs13447394
|
0.00334
|
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)
|
rs201059992
|
0.00334
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00334
|
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)
|
rs115776799
|
0.00334
|
NM_014008.5(CCDC22):c.536-7C>T
|
rs191605685
|
0.00334
|
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys)
|
rs115088000
|
0.00334
|
NM_203288.2(RP9):c.459G>A (p.Lys153=)
|
rs145025032
|
0.00334
|
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=)
|
rs115854664
|
0.00333
|
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=)
|
rs144376972
|
0.00333
|
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)
|
rs151078549
|
0.00333
|
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=)
|
rs140922974
|
0.00333
|
NM_001077365.2(POMT1):c.1585-14C>T
|
rs78529026
|
0.00332
|
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr)
|
rs72648923
|
0.00332
|
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val)
|
rs145975461
|
0.00332
|
NM_020686.6(ABAT):c.816+7C>A
|
rs376046736
|
0.00332
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000245.4(MET):c.-14-4G>A
|
rs144126521
|
0.00331
|
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu)
|
rs140848350
|
0.00331
|
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)
|
rs55857552
|
0.00330
|
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=)
|
rs148104020
|
0.00330
|
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)
|
rs187947581
|
0.00330
|
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)
|
rs77351928
|
0.00330
|
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg)
|
rs184879368
|
0.00330
|
NM_000493.4(COL10A1):c.23T>G (p.Leu8Trp)
|
rs34539681
|
0.00329
|
NM_000514.4(GDNF):c.540A>G (p.Arg180=)
|
rs112417561
|
0.00329
|
NM_000900.5(MGP):c.157A>G (p.Lys53Glu)
|
rs1801716
|
0.00329
|
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=)
|
rs16017
|
0.00329
|
NM_001966.4(EHHADH):c.1805G>A (p.Arg602Gln)
|
rs35200935
|
0.00329
|
NM_004006.3(DMD):c.3276+17A>T
|
rs184220727
|
0.00329
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln)
|
rs146886108
|
0.00329
|
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=)
|
rs61737409
|
0.00329
|
NM_201384.3(PLEC):c.8445T>C (p.Val2815=)
|
rs371421350
|
0.00329
|
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=)
|
rs4647928
|
0.00328
|
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn)
|
rs34018300
|
0.00328
|
NM_002396.5(ME2):c.1404T>A (p.Val468=)
|
rs142847061
|
0.00328
|
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile)
|
rs143898031
|
0.00328
|
NM_022350.5(ERAP2):c.1232T>G (p.Leu411Arg)
|
rs34261036
|
0.00328
|
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=)
|
rs144901347
|
0.00327
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
NM_004817.4(TJP2):c.2992-8C>T
|
rs143965233
|
0.00327
|
NM_206933.4(USH2A):c.15297+3A>G
|
rs57754754
|
0.00327
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
0.00326
|
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=)
|
rs200006106
|
0.00326
|
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp)
|
rs200575795
|
0.00326
|
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn)
|
rs79294840
|
0.00325
|
NM_001032221.6(STXBP1):c.247-8A>G
|
rs199827018
|
0.00325
|
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=)
|
rs146059306
|
0.00325
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=)
|
rs151080601
|
0.00325
|
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=)
|
rs138775857
|
0.00325
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)
|
rs150814269
|
0.00324
|
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)
|
rs181769913
|
0.00324
|
NM_001164508.2(NEB):c.1675-9T>G
|
rs75118047
|
0.00324
|
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)
|
rs184639841
|
0.00324
|
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser)
|
rs12061667
|
0.00324
|
NM_024884.3(L2HGDH):c.6G>T (p.Val2=)
|
rs113626637
|
0.00324
|
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=)
|
rs61734526
|
0.00323
|
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)
|
rs57479434
|
0.00323
|
NM_001048166.1(STIL):c.1055G>A (p.Arg352His)
|
rs141678367
|
0.00323
|
NM_001130969.3(NSMF):c.1467C>T (p.Phe489=)
|
rs139341268
|
0.00323
|
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)
|
rs78540316
|
0.00323
|
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
|
rs114137271
|
0.00322
|
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)
|
rs72646891
|
0.00322
|
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=)
|
rs112864468
|
0.00322
|
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=)
|
rs12721430
|
0.00322
|
NM_004817.4(TJP2):c.644G>A (p.Arg215His)
|
rs201977617
|
0.00322
|
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)
|
rs113895168
|
0.00322
|
NM_007317.3(KIF22):c.98T>C (p.Ile33Thr)
|
rs113256823
|
0.00322
|
NM_212550.5(BLOC1S3):c.609G>A (p.Ter203=)
|
rs142688123
|
0.00322
|
NM_000243.3(MEFV):c.1759+8C>T
|
rs77380520
|
0.00321
|
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)
|
rs73568217
|
0.00321
|
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)
|
rs144679294
|
0.00321
|
NM_001369268.1(ACAN):c.186C>T (p.Thr62=)
|
rs191648646
|
0.00321
|
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)
|
rs193257576
|
0.00321
|
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg)
|
rs35488756
|
0.00320
|
NM_001365951.3(KIF1B):c.2115+7031T>C
|
rs149267056
|
0.00320
|
NM_004380.3(CREBBP):c.333C>T (p.Asn111=)
|
rs150229705
|
0.00320
|
NM_001128205.2(SULF1):c.1483C>G (p.Arg495Gly)
|
rs142971465
|
0.00319
|
NM_005045.4(RELN):c.565C>T (p.His189Tyr)
|
rs115806540
|
0.00319
|
NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met)
|
rs115033462
|
0.00319
|
NM_182914.3(SYNE2):c.11379T>C (p.Leu3793=)
|
rs149391344
|
0.00319
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
NM_004333.6(BRAF):c.1227A>G (p.Ser409=)
|
rs145035762
|
0.00318
|
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val)
|
rs142653846
|
0.00318
|
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)
|
rs140003804
|
0.00317
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
NM_004281.4(BAG3):c.181-9T>A
|
rs139232658
|
0.00317
|
NM_015311.3(OBSL1):c.3159C>T (p.Pro1053=)
|
rs115417324
|
0.00317
|
NM_017534.6(MYH2):c.2295G>A (p.Gly765=)
|
rs79757188
|
0.00317
|
NM_203486.3(DLL3):c.1307G>A (p.Arg436His)
|
rs199831437
|
0.00317
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00316
|
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly)
|
rs139646526
|
0.00316
|
NM_004369.4(COL6A3):c.7162+48G>A
|
rs112563876
|
0.00316
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918
|
0.00316
|
NM_000117.3(EMD):c.144C>T (p.Leu48=)
|
rs200537612
|
0.00315
|
NM_000843.4(GRM6):c.1779C>T (p.Ala593=)
|
rs75667861
|
0.00315
|
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)
|
rs111558968
|
0.00315
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_001851.6(COL9A1):c.1288-4T>A
|
rs142431834
|
0.00315
|
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=)
|
rs186577948
|
0.00315
|
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly)
|
rs61749614
|
0.00315
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)
|
rs115954396
|
0.00315
|
NM_172364.5(CACNA2D4):c.3310-8G>A
|
rs186998620
|
0.00315
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
NM_006662.3(SRCAP):c.2589G>A (p.Lys863=)
|
rs151062043
|
0.00314
|
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=)
|
rs201985795
|
0.00314
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00314
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
NM_000109.4(DMD):c.7+127140A>T
|
rs181626656
|
0.00313
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met)
|
rs143873938
|
0.00313
|
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=)
|
rs35134265
|
0.00313
|
NM_002979.5(SCP2):c.675-6T>C
|
rs115815213
|
0.00313
|
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg)
|
rs35101495
|
0.00313
|
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
|
rs143543800
|
0.00313
|
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys)
|
rs116343381
|
0.00313
|
NM_031220.4(PITPNM3):c.432C>T (p.Ala144=)
|
rs149039090
|
0.00313
|
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)
|
rs76794400
|
0.00313
|
NM_138694.4(PKHD1):c.2715+7del
|
rs551015414
|
0.00313
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00312
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val)
|
rs11552531
|
0.00312
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
NM_001114753.3(ENG):c.1510G>A (p.Val504Met)
|
rs116330805
|
0.00311
|
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr)
|
rs34080096
|
0.00311
|
NM_006790.3(MYOT):c.1190+7T>C
|
rs192405601
|
0.00311
|
NM_000036.3(AMPD1):c.99A>G (p.Gly33=)
|
rs61752480
|
0.00310
|
NM_000553.6(WRN):c.95A>G (p.Lys32Arg)
|
rs34477820
|
0.00310
|
NM_001032221.6(STXBP1):c.325+8C>T
|
rs117372398
|
0.00310
|
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=)
|
rs74324101
|
0.00310
|
NM_001277313.2(FMN1):c.2697T>C (p.Ala899=)
|
rs377621176
|
0.00310
|
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)
|
rs144486524
|
0.00310
|
NM_001848.3(COL6A1):c.1182+3G>A
|
rs62215499
|
0.00310
|
NM_004560.4(ROR2):c.937+10C>T
|
rs201083970
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_002471.4(MYH6):c.1071C>T (p.Ile357=)
|
rs58131640
|
0.00309
|
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=)
|
rs186591691
|
0.00309
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln)
|
rs35831865
|
0.00309
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu)
|
rs73973137
|
0.00308
|
NM_205861.3(DHDDS):c.324-10C>T
|
rs144459149
|
0.00308
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)
|
rs150425546
|
0.00307
|
NM_002334.4(LRP4):c.1551T>C (p.Ala517=)
|
rs150777198
|
0.00307
|
NM_004006.3(DMD):c.802T>C (p.Leu268=)
|
rs1800264
|
0.00307
|
NM_004260.4(RECQL4):c.2377C>T (p.Pro793Ser)
|
rs35098923
|
0.00307
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_005562.3(LAMC2):c.880C>T (p.Leu294=)
|
rs144572936
|
0.00307
|
NM_019032.6(ADAMTSL4):c.2969C>T (p.Thr990Met)
|
rs139784416
|
0.00307
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=)
|
rs35579821
|
0.00306
|
NM_001127671.2(LIFR):c.2498-7G>A
|
rs113078097
|
0.00306
|
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=)
|
rs146854507
|
0.00306
|
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)
|
rs61731477
|
0.00306
|
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln)
|
rs112638391
|
0.00306
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln)
|
rs72646291
|
0.00306
|
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_001384140.1(PCDH15):c.3717+8G>C
|
rs200556301
|
0.00305
|
NM_025114.4(CEP290):c.6960+10G>A
|
rs75011402
|
0.00305
|
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)
|
rs190664764
|
0.00304
|
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=)
|
rs2228348
|
0.00304
|
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr)
|
rs148261231
|
0.00304
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
NM_000397.4(CYBB):c.654C>A (p.Gly218=)
|
rs35080474
|
0.00303
|
NM_005559.4(LAMA1):c.9067+4T>C
|
rs8091658
|
0.00303
|
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile)
|
rs147034750
|
0.00303
|
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)
|
rs149671008
|
0.00302
|
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)
|
rs116827211
|
0.00302
|
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)
|
rs148291156
|
0.00302
|
NM_001918.5(DBT):c.76T>C (p.Cys26Arg)
|
rs145674833
|
0.00302
|
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=)
|
rs35648048
|
0.00302
|
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met)
|
rs146586991
|
0.00302
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00302
|
NM_000276.4(OCRL):c.897G>A (p.Met299Ile)
|
rs138260625
|
0.00301
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
NM_005591.4(MRE11):c.771A>G (p.Glu257=)
|
rs13447632
|
0.00301
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_172364.5(CACNA2D4):c.2187C>T (p.Asp729=)
|
rs78335326
|
0.00301
|
NM_000515.5(GH1):c.363T>A (p.Ser121Arg)
|
rs137882374
|
0.00300
|
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys)
|
rs77084550
|
0.00300
|
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=)
|
rs199779296
|
0.00300
|
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser)
|
rs114807343
|
0.00300
|
NM_000217.3(KCNA1):c.1296C>G (p.Ser432=)
|
rs76066681
|
0.00299
|
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)
|
rs201207627
|
0.00299
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00299
|
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser)
|
rs115957676
|
0.00299
|
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)
|
rs8192683
|
0.00299
|
NM_014908.4(DOLK):c.186G>A (p.Arg62=)
|
rs148171062
|
0.00299
|
NM_020361.5(CPA6):c.975A>G (p.Ala325=)
|
rs138313759
|
0.00299
|
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)
|
rs142013761
|
0.00299
|
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=)
|
rs116446814
|
0.00299
|
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=)
|
rs74160613
|
0.00298
|
NM_000144.5(FXN):c.626A>G (p.Asp209Gly)
|
rs74621026
|
0.00298
|
NM_000426.4(LAMA2):c.675C>T (p.Ala225=)
|
rs139665175
|
0.00298
|
NM_000709.4(BCKDHA):c.484+5G>A
|
rs149899007
|
0.00298
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)
|
rs112337765
|
0.00297
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
NM_001458.5(FLNC):c.1425C>T (p.Asn475=)
|
rs143610360
|
0.00297
|
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala)
|
rs34972246
|
0.00297
|
NM_002900.3(RBP3):c.1631G>A (p.Arg544His)
|
rs41284962
|
0.00297
|
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser)
|
rs62620041
|
0.00297
|
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=)
|
rs201119371
|
0.00297
|
NM_003742.4(ABCB11):c.616A>G (p.Ile206Val)
|
rs11568357
|
0.00297
|
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=)
|
rs3737682
|
0.00297
|
NM_014714.4(IFT140):c.1541T>A (p.Leu514His)
|
rs150903791
|
0.00297
|
NM_014714.4(IFT140):c.1542C>A (p.Leu514=)
|
rs141542834
|
0.00297
|
NM_020066.5(FMN2):c.1352T>A (p.Leu451Gln)
|
rs145379416
|
0.00297
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_133497.4(KCNV2):c.144G>A (p.Glu48=)
|
rs79889344
|
0.00297
|
NM_194248.3(OTOF):c.3734-10A>C
|
rs73920284
|
0.00297
|
NM_001184880.2(PCDH19):c.*8T>C
|
rs145987305
|
0.00296
|
NM_001324144.2(ZNF41):c.590A>G (p.Lys197Arg)
|
rs148585367
|
0.00296
|
NM_001353214.3(DYM):c.500T>A (p.Ile167Asn)
|
rs75854087
|
0.00296
|
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)
|
rs139721775
|
0.00296
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_001848.3(COL6A1):c.1612-6C>T
|
rs143812383
|
0.00296
|
NM_020549.5(CHAT):c.1135G>C (p.Asp379His)
|
rs115212829
|
0.00296
|
NM_033641.4(COL4A6):c.528T>G (p.Pro176=)
|
rs12390371
|
0.00296
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)
|
rs34439033
|
0.00295
|
NM_001267550.2(TTN):c.2765G>A (p.Arg922His)
|
rs56046320
|
0.00295
|
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)
|
rs113651939
|
0.00295
|
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr)
|
rs202076833
|
0.00295
|
NM_005477.3(HCN4):c.1371+8C>T
|
rs199838832
|
0.00295
|
NM_000392.5(ABCC2):c.4509-9T>C
|
rs180717330
|
0.00294
|
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu)
|
rs201823490
|
0.00294
|
NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln)
|
rs200424850
|
0.00294
|
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=)
|
rs202082835
|
0.00294
|
NM_014491.4(FOXP2):c.1468+9T>C
|
rs75753538
|
0.00294
|
NM_014762.4(DHCR24):c.81C>T (p.Leu27=)
|
rs140995590
|
0.00294
|
NM_020754.4(ARHGAP31):c.654C>T (p.Asn218=)
|
rs145326425
|
0.00294
|
NM_022356.4(P3H1):c.1473+5G>T
|
rs114044880
|
0.00294
|
NM_000238.4(KCNH2):c.3152+12C>A
|
rs72549420
|
0.00293
|
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)
|
rs112464110
|
0.00293
|
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)
|
rs73038337
|
0.00293
|
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val)
|
rs188517529
|
0.00293
|
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=)
|
rs61733871
|
0.00293
|
NM_004482.4(GALNT3):c.132A>G (p.Gln44=)
|
rs149809222
|
0.00293
|
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His)
|
rs41311989
|
0.00293
|
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)
|
rs116679717
|
0.00293
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg)
|
rs61736946
|
0.00293
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
NM_000142.5(FGFR3):c.393G>A (p.Ser131=)
|
rs55662109
|
0.00292
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_000271.5(NPC1):c.3477+4A>G
|
rs114073738
|
0.00292
|
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu)
|
rs35292878
|
0.00292
|
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser)
|
rs115169993
|
0.00292
|
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)
|
rs35180584
|
0.00291
|
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser)
|
rs61749738
|
0.00291
|
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=)
|
rs113747896
|
0.00291
|
NM_001378414.1(HDAC4):c.1095+10C>G
|
rs11896634
|
0.00291
|
NM_005529.7(HSPG2):c.9514-3C>T
|
rs114851424
|
0.00291
|
NM_006579.3(EBP):c.382C>T (p.Leu128=)
|
rs142881014
|
0.00291
|
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)
|
rs143981992
|
0.00291
|
NM_178170.3(NEK8):c.2052G>A (p.Ser684=)
|
rs145898152
|
0.00291
|
NM_000059.4(BRCA2):c.7805+6C>G
|
rs81002819
|
0.00290
|
NM_000155.4(GALT):c.510C>A (p.Ile170=)
|
rs61735984
|
0.00290
|
NM_000325.6(PITX2):c.63C>T (p.Ala21=)
|
rs61756183
|
0.00290
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=)
|
rs115816749
|
0.00290
|
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=)
|
rs112506924
|
0.00290
|
NM_002691.4(POLD1):c.1977C>T (p.Ile659=)
|
rs45605236
|
0.00290
|
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser)
|
rs143519723
|
0.00290
|
NM_007254.4(PNKP):c.939T>C (p.Phe313=)
|
rs149731642
|
0.00290
|
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)
|
rs61995713
|
0.00290
|
NM_153676.4(USH1C):c.381G>T (p.Gly127=)
|
rs41282942
|
0.00290
|
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)
|
rs74463786
|
0.00290
|
NM_002335.4(LRP5):c.16C>A (p.Pro6Thr)
|
rs771718186
|
0.00289
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
NM_000093.5(COL5A1):c.240C>T (p.Asp80=)
|
rs79724538
|
0.00288
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
NM_007078.3(LDB3):c.2016C>T (p.Cys672=)
|
rs45578640
|
0.00288
|
NM_022436.3(ABCG5):c.1763-7T>G
|
rs114780578
|
0.00288
|
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)
|
rs75031300
|
0.00287
|
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)
|
rs41287112
|
0.00287
|
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=)
|
rs76525703
|
0.00287
|
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met)
|
rs114149451
|
0.00287
|
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)
|
rs145733598
|
0.00287
|
NM_005045.4(RELN):c.906C>T (p.Ala302=)
|
rs114494558
|
0.00287
|
NM_005445.4(SMC3):c.255A>G (p.Ser85=)
|
rs146433240
|
0.00287
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_201548.5(CERKL):c.66C>G (p.Pro22=)
|
rs199762900
|
0.00287
|
NM_000503.6(EYA1):c.840C>A (p.Ile280=)
|
rs55972891
|
0.00286
|
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=)
|
rs146294986
|
0.00286
|
NM_001458.5(FLNC):c.4928-7T>C
|
rs201957008
|
0.00286
|
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=)
|
rs143313706
|
0.00286
|
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=)
|
rs2229009
|
0.00285
|
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=)
|
rs61733248
|
0.00285
|
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=)
|
rs139393266
|
0.00285
|
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=)
|
rs373880077
|
0.00285
|
NM_003923.3(FOXH1):c.783T>C (p.Pro261=)
|
rs151147114
|
0.00285
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)
|
rs41281318
|
0.00285
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
NM_001079802.2(FKTN):c.1045-40C>A
|
rs145883833
|
0.00284
|
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=)
|
rs189752384
|
0.00284
|
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu)
|
rs150179494
|
0.00284
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
NM_001008216.2(GALE):c.772C>T (p.Leu258=)
|
rs147618796
|
0.00283
|
NM_001008216.2(GALE):c.873+20C>T
|
rs141022680
|
0.00283
|
NM_001035.3(RYR2):c.1218G>A (p.Ser406=)
|
rs147389346
|
0.00283
|
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=)
|
rs61737781
|
0.00283
|
NM_003482.4(KMT2D):c.4020+13C>G
|
rs184377216
|
0.00283
|
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro)
|
rs116105264
|
0.00283
|
NM_005045.4(RELN):c.416C>G (p.Thr139Ser)
|
rs79471015
|
0.00283
|
NM_006269.2(RP1):c.382C>A (p.Leu128Ile)
|
rs147116231
|
0.00283
|
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=)
|
rs34265978
|
0.00283
|
NM_020800.3(IFT80):c.1076+9C>G
|
rs139408398
|
0.00283
|
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys)
|
rs148346599
|
0.00283
|
NM_000271.5(NPC1):c.1071G>A (p.Ser357=)
|
rs61731964
|
0.00282
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=)
|
rs143603583
|
0.00282
|
NM_001364905.1(LRBA):c.3568A>G (p.Met1190Val)
|
rs138173151
|
0.00282
|
NM_001429.4(EP300):c.2064A>G (p.Leu688=)
|
rs61756763
|
0.00282
|
NM_025193.4(HSD3B7):c.103C>G (p.Arg35Gly)
|
rs150464212
|
0.00282
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)
|
rs112581563
|
0.00281
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
NM_000217.3(KCNA1):c.237G>A (p.Glu79=)
|
rs149110871
|
0.00280
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile)
|
rs138801821
|
0.00280
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_015340.4(LARS2):c.2307C>T (p.Ser769=)
|
rs143838895
|
0.00280
|
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)
|
rs114079815
|
0.00280
|
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)
|
rs146097254
|
0.00280
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe)
|
rs139586720
|
0.00279
|
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg)
|
rs72468638
|
0.00279
|
NM_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
NM_004541.4(NDUFA1):c.-4A>G
|
rs201240353
|
0.00279
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
0.00279
|
NM_006383.4(CIB2):c.448G>A (p.Asp150Asn)
|
rs141932061
|
0.00279
|
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)
|
rs35504014
|
0.00278
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_002181.4(IHH):c.315+8C>T
|
rs186249490
|
0.00278
|
NM_006922.4(SCN3A):c.171T>C (p.Ala57=)
|
rs111389453
|
0.00278
|
NM_018136.5(ASPM):c.9444+8T>G
|
rs140150599
|
0.00278
|
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)
|
rs116445698
|
0.00278
|
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)
|
rs146858930
|
0.00277
|
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)
|
rs62638215
|
0.00277
|
NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys)
|
rs144288263
|
0.00277
|
NM_001040142.2(SCN2A):c.387-10G>A
|
rs2304015
|
0.00277
|
NM_014795.4(ZEB2):c.489C>T (p.Ile163=)
|
rs138859323
|
0.00277
|
NM_053025.4(MYLK):c.984G>A (p.Ser328=)
|
rs115018449
|
0.00277
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00276
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)
|
rs35398714
|
0.00276
|
NM_012280.4(FTSJ1):c.270G>T (p.Gly90=)
|
rs138008946
|
0.00276
|
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)
|
rs148552744
|
0.00276
|
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=)
|
rs149408382
|
0.00276
|
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=)
|
rs147402839
|
0.00276
|
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=)
|
rs141921562
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)
|
rs61737803
|
0.00275
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
NM_001193315.2(VIPAS39):c.861C>T (p.Ser287=)
|
rs148698913
|
0.00275
|
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg)
|
rs150199226
|
0.00275
|
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
NM_006012.4(CLPP):c.555+3G>A
|
rs200101759
|
0.00275
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
NM_000257.4(MYH7):c.4353+10G>A
|
rs202205780
|
0.00274
|
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=)
|
rs151150677
|
0.00274
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val)
|
rs145901197
|
0.00274
|
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys)
|
rs201369291
|
0.00274
|
NM_005529.7(HSPG2):c.3528+10G>T
|
rs367678569
|
0.00274
|
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=)
|
rs71530911
|
0.00274
|
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp)
|
rs76191655
|
0.00274
|
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)
|
rs111400494
|
0.00274
|
NM_080669.6(SLC46A1):c.756C>G (p.Val252=)
|
rs185900287
|
0.00274
|
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)
|
rs72648980
|
0.00273
|
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)
|
rs145720664
|
0.00273
|
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)
|
rs75450131
|
0.00273
|
NM_031220.4(PITPNM3):c.226+9C>G
|
rs145880642
|
0.00273
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys)
|
rs77384282
|
0.00272
|
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)
|
rs150388417
|
0.00272
|
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)
|
rs192354176
|
0.00272
|
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=)
|
rs113542401
|
0.00272
|
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)
|
rs141292904
|
0.00272
|
NM_015909.4(NBAS):c.6790G>C (p.Asp2264His)
|
rs145372749
|
0.00272
|
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln)
|
rs140492803
|
0.00272
|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)
|
rs148594393
|
0.00272
|
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)
|
rs56226109
|
0.00271
|
NM_000426.4(LAMA2):c.5247C>T (p.Ala1749=)
|
rs149951387
|
0.00271
|
NM_005592.4(MUSK):c.1062G>A (p.Thr354=)
|
rs139945437
|
0.00271
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=)
|
rs116156469
|
0.00271
|
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His)
|
rs143832120
|
0.00271
|
NM_000153.4(GALC):c.913A>G (p.Ile305Val)
|
rs74887188
|
0.00270
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_001277313.2(FMN1):c.2044-1683C>T
|
rs73378526
|
0.00270
|
NM_004562.3(PRKN):c.48G>A (p.Glu16=)
|
rs143477190
|
0.00270
|
NM_007126.5(VCP):c.927C>T (p.Ile309=)
|
rs34097935
|
0.00270
|
NM_018979.4(WNK1):c.5583+3A>G
|
rs72650758
|
0.00270
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=)
|
rs8187709
|
0.00269
|
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe)
|
rs147846832
|
0.00269
|
NM_002900.3(RBP3):c.2650G>A (p.Val884Met)
|
rs11204213
|
0.00269
|
NM_005359.6(SMAD4):c.455-6A>G
|
rs181178864
|
0.00269
|
NM_006005.3(WFS1):c.1674C>T (p.Arg558=)
|
rs61735402
|
0.00269
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
NM_194248.3(OTOF):c.366C>T (p.Asp122=)
|
rs61747283
|
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_004208.4(AIFM1):c.1416T>C (p.Ala472=)
|
rs141324245
|
0.00268
|
NM_033087.4(ALG2):c.84C>G (p.Gly28=)
|
rs61744789
|
0.00268
|
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=)
|
rs114747836
|
0.00268
|
NM_000168.6(GLI3):c.2373G>A (p.Pro791=)
|
rs61754622
|
0.00267
|
NM_001029883.3(PCARE):c.184C>G (p.Pro62Ala)
|
rs76346220
|
0.00267
|
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)
|
rs146608896
|
0.00267
|
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)
|
rs61735479
|
0.00267
|
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=)
|
rs139911745
|
0.00267
|
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)
|
rs148904096
|
0.00267
|
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)
|
rs75485205
|
0.00267
|
NM_014927.5(CNKSR2):c.2449C>T (p.Leu817=)
|
rs150659246
|
0.00267
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
NM_020717.5(SHROOM4):c.839G>A (p.Arg280Gln)
|
rs146093347
|
0.00267
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile)
|
rs144605670
|
0.00267
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg)
|
rs61734891
|
0.00266
|
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val)
|
rs35656321
|
0.00266
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=)
|
rs116774472
|
0.00265
|
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)
|
rs140350441
|
0.00265
|
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)
|
rs72647845
|
0.00265
|
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=)
|
rs1803241
|
0.00265
|
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val)
|
rs116729313
|
0.00265
|
NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala)
|
rs77493891
|
0.00265
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_015311.3(OBSL1):c.903C>T (p.Gly301=)
|
rs201632798
|
0.00265
|
NM_017775.4(TTC19):c.1041A>G (p.Gln347=)
|
rs77955179
|
0.00265
|
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)
|
rs34309943
|
0.00264
|
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)
|
rs77144743
|
0.00264
|
NM_000717.5(CA4):c.492G>A (p.Ala164=)
|
rs139119204
|
0.00264
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)
|
rs146869947
|
0.00264
|
NM_015311.3(OBSL1):c.751G>T (p.Ala251Ser)
|
rs201338267
|
0.00264
|
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=)
|
rs188485743
|
0.00264
|
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)
|
rs17102066
|
0.00264
|
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser)
|
rs116981543
|
0.00264
|
NM_025074.7(FRAS1):c.11724T>C (p.Ser3908=)
|
rs151307846
|
0.00264
|
NM_078470.6(COX15):c.1026C>T (p.Phe342=)
|
rs147724430
|
0.00264
|
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)
|
rs147274045
|
0.00264
|
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=)
|
rs201145311
|
0.00263
|
NM_020779.4(WDR35):c.318T>C (p.Ile106=)
|
rs115963122
|
0.00263
|
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile)
|
rs115928999
|
0.00262
|
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu)
|
rs55915440
|
0.00262
|
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)
|
rs45569837
|
0.00262
|
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)
|
rs141631911
|
0.00262
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)
|
rs374664760
|
0.00262
|
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)
|
rs115993270
|
0.00262
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=)
|
rs190361551
|
0.00262
|
NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly)
|
rs200788562
|
0.00262
|
NM_018668.5(VPS33B):c.842C>G (p.Ala281Gly)
|
rs115308854
|
0.00262
|
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=)
|
rs148743086
|
0.00262
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=)
|
rs72647878
|
0.00261
|
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)
|
rs181717727
|
0.00261
|
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His)
|
rs61755066
|
0.00261
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=)
|
rs148882860
|
0.00261
|
NM_152564.5(VPS13B):c.9330+9A>G
|
rs184381851
|
0.00261
|
NM_198525.3(KIF7):c.3111+9C>A
|
rs147996726
|
0.00261
|
NM_207361.6(FREM2):c.9071A>G (p.Asn3024Ser)
|
rs115149211
|
0.00261
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile)
|
rs115171119
|
0.00260
|
NM_032174.6(TOMM40L):c.*694G>A
|
rs147849659
|
0.00260
|
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr)
|
rs147039836
|
0.00260
|
NM_000070.3(CAPN3):c.930T>C (p.Asp310=)
|
rs150356488
|
0.00259
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)
|
rs138723423
|
0.00259
|
NM_004937.3(CTNS):c.462-7C>A
|
rs189632527
|
0.00259
|
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)
|
rs144426409
|
0.00259
|
NM_181882.3(PRX):c.2043C>T (p.Pro681=)
|
rs56743160
|
0.00259
|
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn)
|
rs150644129
|
0.00259
|
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)
|
rs149185431
|
0.00258
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00258
|
NM_001429.4(EP300):c.5814G>A (p.Thr1938=)
|
rs112948044
|
0.00258
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_005591.4(MRE11):c.969A>G (p.Pro323=)
|
rs13447633
|
0.00258
|
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
|
rs138716143
|
0.00258
|
NM_013382.7(POMT2):c.924-10C>T
|
rs142122657
|
0.00258
|
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)
|
rs147223770
|
0.00258
|
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)
|
rs80075498
|
0.00257
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val)
|
rs78292723
|
0.00257
|
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)
|
rs55992440
|
0.00257
|
NM_022081.6(HPS4):c.1883G>A (p.Arg628His)
|
rs78892693
|
0.00257
|
NM_000168.6(GLI3):c.1357-17C>G
|
rs190600888
|
0.00256
|
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)
|
rs3027927
|
0.00256
|
NM_002547.3(OPHN1):c.2324+10G>T
|
rs144475530
|
0.00256
|
NM_000542.5(SFTPB):c.291G>A (p.Glu97=)
|
rs34682912
|
0.00255
|
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln)
|
rs187270666
|
0.00255
|
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)
|
rs139506970
|
0.00255
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=)
|
rs142650279
|
0.00255
|
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=)
|
rs61746518
|
0.00255
|
NM_182914.3(SYNE2):c.12984A>G (p.Lys4328=)
|
rs151314114
|
0.00255
|
NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys)
|
rs76776637
|
0.00254
|
NM_201253.3(CRB1):c.600A>G (p.Thr200=)
|
rs77713666
|
0.00254
|
NM_001369.3(DNAH5):c.7752+10T>C
|
rs149460805
|
0.00253
|
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile)
|
rs146793660
|
0.00253
|
NM_005379.4(MYO1A):c.2032A>T (p.Ile678Phe)
|
rs151269703
|
0.00253
|
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)
|
rs150392503
|
0.00253
|
NM_005802.5(TOPORS):c.2643C>G (p.His881Gln)
|
rs41302222
|
0.00253
|
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser)
|
rs143877693
|
0.00253
|
NM_015294.6(TRIM37):c.2049C>T (p.Ala683=)
|
rs35871562
|
0.00253
|
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu)
|
rs147791304
|
0.00253
|
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=)
|
rs139927527
|
0.00253
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
0.00252
|
NM_001457.4(FLNB):c.1044C>T (p.Asp348=)
|
rs111996979
|
0.00252
|
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)
|
rs147219060
|
0.00252
|
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=)
|
rs2072381
|
0.00252
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val)
|
rs17687375
|
0.00252
|
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)
|
rs142647321
|
0.00251
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)
|
rs139223781
|
0.00251
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe)
|
rs2296651
|
0.00251
|
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr)
|
rs75820839
|
0.00251
|
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)
|
rs77138370
|
0.00251
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro)
|
rs3750819
|
0.00250
|
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)
|
rs2306618
|
0.00250
|
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)
|
rs188370772
|
0.00250
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg)
|
rs78110192
|
0.00249
|
NM_000023.4(SGCA):c.-8G>A
|
rs149296410
|
0.00248
|
NM_001165963.4(SCN1A):c.1377+10C>T
|
rs56112036
|
0.00248
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00248
|
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile)
|
rs76659072
|
0.00248
|
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
|
rs11570112
|
0.00247
|
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=)
|
rs368002375
|
0.00247
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00247
|
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln)
|
rs114248177
|
0.00247
|
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=)
|
rs113615425
|
0.00247
|
NM_003282.4(TNNI2):c.354G>A (p.Ser118=)
|
rs141400587
|
0.00247
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_201384.3(PLEC):c.1956C>T (p.Thr652=)
|
rs201835507
|
0.00247
|
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg)
|
rs148556640
|
0.00247
|
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu)
|
rs34917815
|
0.00246
|
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=)
|
rs141317474
|
0.00246
|
NM_000337.6(SGCD):c.699+71G>A
|
rs187204080
|
0.00245
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr)
|
rs190390987
|
0.00245
|
NM_005159.5(ACTC1):c.454+9G>A
|
rs148695567
|
0.00245
|
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro)
|
rs150549656
|
0.00245
|
NM_024408.4(NOTCH2):c.3519C>T (p.Cys1173=)
|
rs115325955
|
0.00245
|
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala)
|
rs61754947
|
0.00245
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
NM_001008216.2(GALE):c.912G>A (p.Val304=)
|
rs143694860
|
0.00244
|
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn)
|
rs115421185
|
0.00244
|
NM_003240.5(LEFTY2):c.1035C>T (p.Asn345=)
|
rs112610798
|
0.00244
|
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val)
|
rs141901178
|
0.00244
|
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)
|
rs150082469
|
0.00244
|
NM_016032.4(ZDHHC9):c.167+10G>A
|
rs140526450
|
0.00244
|
NM_001232.4(CASQ2):c.198G>A (p.Thr66=)
|
rs74114618
|
0.00243
|
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=)
|
rs72866991
|
0.00243
|
NM_006432.5(NPC2):c.*9T>C
|
rs80216539
|
0.00243
|
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=)
|
rs139114208
|
0.00243
|
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys)
|
rs145419117
|
0.00243
|
NM_000540.3(RYR1):c.14130-8C>G
|
rs140808099
|
0.00242
|
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)
|
rs142074817
|
0.00242
|
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn)
|
rs183470913
|
0.00242
|
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn)
|
rs28562813
|
0.00242
|
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu)
|
rs150075912
|
0.00242
|
NM_002381.5(MATN3):c.1169-10G>A
|
rs149849256
|
0.00242
|
NM_002474.3(MYH11):c.453G>A (p.Pro151=)
|
rs61734199
|
0.00242
|
NM_004006.3(DMD):c.10087-24A>G
|
rs72466541
|
0.00242
|
NM_006031.6(PCNT):c.9274-3C>T
|
rs200348425
|
0.00242
|
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)
|
rs148932387
|
0.00242
|
NM_182914.3(SYNE2):c.19415C>T (p.Ser6472Leu)
|
rs150955173
|
0.00242
|
NM_000137.4(FAH):c.1259G>A (p.Ter420=)
|
rs61747586
|
0.00241
|
NM_000337.6(SGCD):c.*2A>C
|
rs200757725
|
0.00241
|
NM_000381.4(MID1):c.1698A>G (p.Glu566=)
|
rs34554583
|
0.00241
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
NM_001793.6(CDH3):c.1500C>T (p.Thr500=)
|
rs35232945
|
0.00241
|
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)
|
rs138161346
|
0.00241
|
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=)
|
rs61734328
|
0.00241
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00240
|
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)
|
rs147106995
|
0.00240
|
NM_000557.5(GDF5):c.652A>C (p.Arg218=)
|
rs116467702
|
0.00240
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)
|
rs113154524
|
0.00240
|
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=)
|
rs140707871
|
0.00240
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)
|
rs145896974
|
0.00240
|
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu)
|
rs35570782
|
0.00240
|
NM_025074.7(FRAS1):c.11718T>C (p.Ile3906=)
|
rs142389362
|
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_000370.3(TTPA):c.48G>A (p.Ala16=)
|
rs562202164
|
0.00239
|
NM_000726.5(CACNB4):c.655A>G (p.Met219Val)
|
rs201870832
|
0.00239
|
NM_001379110.1(SLC9A6):c.1460+4A>G
|
rs180727016
|
0.00239
|
NM_005378.6(MYCN):c.207G>A (p.Glu69=)
|
rs41264199
|
0.00239
|
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser)
|
rs71578980
|
0.00239
|
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)
|
rs190548814
|
0.00239
|
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly)
|
rs140047528
|
0.00239
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu)
|
rs200350579
|
0.00238
|
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=)
|
rs201174259
|
0.00238
|
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly)
|
rs116306908
|
0.00238
|
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=)
|
rs202085637
|
0.00238
|
NM_004999.4(MYO6):c.1224-4A>G
|
rs144031818
|
0.00238
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_000017.4(ACADS):c.423G>A (p.Thr141=)
|
rs2239686
|
0.00237
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_000283.4(PDE6B):c.711+10C>T
|
rs201100689
|
0.00237
|
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)
|
rs139468837
|
0.00237
|
NM_014989.7(RIMS1):c.4983G>A (p.Pro1661=)
|
rs377743730
|
0.00237
|
NM_133497.4(KCNV2):c.291C>T (p.Ser97=)
|
rs113456345
|
0.00237
|
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu)
|
rs139790539
|
0.00237
|
NM_000557.5(GDF5):c.462C>A (p.Pro154=)
|
rs150686636
|
0.00236
|
NM_000742.4(CHRNA2):c.449+12T>C
|
rs202012980
|
0.00236
|
NM_001605.3(AARS1):c.1672-4T>A
|
rs187509039
|
0.00236
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
NM_014141.6(CNTNAP2):c.681C>T (p.His227=)
|
rs142984073
|
0.00236
|
NM_018941.4(CLN8):c.290G>A (p.Arg97His)
|
rs116605307
|
0.00236
|
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=)
|
rs368377560
|
0.00236
|
NM_025009.5(CEP135):c.638T>C (p.Val213Ala)
|
rs150331261
|
0.00236
|
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)
|
rs145035489
|
0.00236
|
NM_080916.3(DGUOK):c.123C>G (p.Leu41=)
|
rs145252858
|
0.00236
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=)
|
rs138826759
|
0.00235
|
NM_000875.5(IGF1R):c.1474G>A (p.Val492Ile)
|
rs61740877
|
0.00235
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00235
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
NM_015102.5(NPHP4):c.453-27G>A
|
rs200754878
|
0.00235
|
NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn)
|
rs114234514
|
0.00234
|
NM_000441.2(SLC26A4):c.1545-5T>G
|
rs77944876
|
0.00234
|
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=)
|
rs146730044
|
0.00234
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
0.00234
|
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)
|
rs41272041
|
0.00234
|
NM_004541.4(NDUFA1):c.141G>C (p.Leu47=)
|
rs140064980
|
0.00234
|
NM_017534.6(MYH2):c.4860C>G (p.Leu1620=)
|
rs148538539
|
0.00234
|
NM_024747.6(HPS6):c.99A>G (p.Arg33=)
|
rs139591041
|
0.00234
|
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)
|
rs34664134
|
0.00233
|
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)
|
rs142528559
|
0.00233
|
NM_005633.4(SOS1):c.570C>T (p.Asp190=)
|
rs55980502
|
0.00233
|
NM_006662.3(SRCAP):c.5631C>G (p.Pro1877=)
|
rs147477244
|
0.00233
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
NM_001173467.3(SP7):c.864G>A (p.Leu288=)
|
rs113295055
|
0.00232
|
NM_001384140.1(PCDH15):c.4672-1640A>G
|
rs145178582
|
0.00232
|
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)
|
rs113817924
|
0.00232
|
NM_004560.4(ROR2):c.1686C>T (p.His562=)
|
rs56048121
|
0.00232
|
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln)
|
rs74358901
|
0.00232
|
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val)
|
rs144715071
|
0.00232
|
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser)
|
rs186143284
|
0.00232
|
NM_000030.3(AGXT):c.557C>T (p.Ala186Val)
|
rs117195882
|
0.00231
|
NM_000330.4(RS1):c.184+3208G>A
|
rs150900695
|
0.00231
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_000554.6(CRX):c.196G>A (p.Val66Ile)
|
rs61748438
|
0.00231
|
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)
|
rs61749163
|
0.00231
|
NM_001378414.1(HDAC4):c.1809G>A (p.Glu603=)
|
rs148813865
|
0.00231
|
NM_002615.7(SERPINF1):c.555G>A (p.Gln185=)
|
rs34063250
|
0.00231
|
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=)
|
rs151083690
|
0.00230
|
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr)
|
rs140041506
|
0.00230
|
NM_003242.6(TGFBR2):c.1525-8C>T
|
rs11466530
|
0.00230
|
NM_018714.3(COG1):c.1893C>T (p.Cys631=)
|
rs80232475
|
0.00230
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
NM_182914.3(SYNE2):c.20382+9A>G
|
rs116394628
|
0.00230
|
NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly)
|
rs151022876
|
0.00230
|
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala)
|
rs72657320
|
0.00229
|
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=)
|
rs61736186
|
0.00229
|
NM_130837.3(OPA1):c.1342A>C (p.Arg448=)
|
rs149752576
|
0.00229
|
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)
|
rs75414918
|
0.00229
|
NM_172364.5(CACNA2D4):c.2921+7G>C
|
rs202022529
|
0.00229
|
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln)
|
rs116823950
|
0.00229
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
NM_001035.3(RYR2):c.6555+6G>A
|
rs372661934
|
0.00228
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
NM_006059.4(LAMC3):c.3927+8C>G
|
rs148008251
|
0.00228
|
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)
|
rs77945587
|
0.00228
|
NM_024747.6(HPS6):c.1779G>A (p.Pro593=)
|
rs77529785
|
0.00228
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037
|
0.00228
|
NM_000540.3(RYR1):c.216G>T (p.Leu72=)
|
rs113389877
|
0.00227
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu)
|
rs148239437
|
0.00227
|
NM_004260.4(RECQL4):c.891C>T (p.Asp297=)
|
rs34700133
|
0.00227
|
NM_002335.4(LRP5):c.4209C>G (p.Val1403=)
|
rs147671915
|
0.00226
|
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=)
|
rs138573101
|
0.00226
|
NM_005045.4(RELN):c.8811G>A (p.Ala2937=)
|
rs144728023
|
0.00226
|
NM_006059.4(LAMC3):c.3347C>G (p.Ala1116Gly)
|
rs36028197
|
0.00226
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_000823.4(GHRHR):c.673G>A (p.Val225Ile)
|
rs28371560
|
0.00225
|
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)
|
rs201554140
|
0.00225
|
NM_001429.4(EP300):c.6636G>A (p.Gln2212=)
|
rs142673005
|
0.00225
|
NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys)
|
rs74026937
|
0.00225
|
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu)
|
rs111803773
|
0.00225
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
NM_006180.6(NTRK2):c.2430C>T (p.Pro810=)
|
rs56142442
|
0.00225
|
NM_021625.5(TRPV4):c.1824+4C>T
|
rs147259744
|
0.00225
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
NM_201384.3(PLEC):c.11994C>T (p.Pro3998=)
|
rs113137721
|
0.00225
|
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser)
|
rs143026295
|
0.00224
|
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)
|
rs116105846
|
0.00224
|
NM_014319.5(LEMD3):c.2388-7C>T
|
rs184015447
|
0.00224
|
NM_025193.4(HSD3B7):c.357C>T (p.Thr119=)
|
rs117645456
|
0.00224
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val)
|
rs199547661
|
0.00223
|
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=)
|
rs200998860
|
0.00223
|
NM_006005.3(WFS1):c.2124C>T (p.Arg708=)
|
rs61735401
|
0.00223
|
NM_018418.5(SPATA7):c.366A>T (p.Leu122Phe)
|
rs150093878
|
0.00223
|
NM_000163.5(GHR):c.99C>G (p.Pro33=)
|
rs76183160
|
0.00222
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=)
|
rs113168860
|
0.00222
|
NM_001077365.2(POMT1):c.1416C>T (p.Val472=)
|
rs139687326
|
0.00222
|
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)
|
rs138576504
|
0.00222
|
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu)
|
rs147580961
|
0.00222
|
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)
|
rs149028760
|
0.00222
|
NM_014795.4(ZEB2):c.2887-4G>A
|
rs147972125
|
0.00222
|
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)
|
rs144383241
|
0.00222
|
NM_133261.3(GIPC3):c.706-12G>A
|
rs112949777
|
0.00222
|
NM_001039213.4(CEACAM16):c.352G>A (p.Glu118Lys)
|
rs183860695
|
0.00221
|
NM_002334.4(LRP4):c.1494C>T (p.Asn498=)
|
rs61749083
|
0.00221
|
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)
|
rs140308808
|
0.00221
|
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala)
|
rs142849754
|
0.00221
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)
|
rs558064127
|
0.00220
|
NM_002529.4(NTRK1):c.254G>A (p.Arg85His)
|
rs79678945
|
0.00220
|
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=)
|
rs143527588
|
0.00220
|
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=)
|
rs137921473
|
0.00220
|
NM_005802.5(TOPORS):c.1560A>G (p.Gln520=)
|
rs61756347
|
0.00220
|
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=)
|
rs142948420
|
0.00220
|
NM_020247.5(COQ8A):c.618G>A (p.Val206=)
|
rs115855910
|
0.00220
|
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155
|
0.00220
|
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=)
|
rs58461416
|
0.00220
|
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)
|
rs117067974
|
0.00220
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)
|
rs76337075
|
0.00219
|
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)
|
rs138506461
|
0.00219
|
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)
|
rs150399299
|
0.00219
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)
|
rs114711705
|
0.00218
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
NM_003680.4(YARS1):c.52C>T (p.Leu18=)
|
rs147538442
|
0.00218
|
NM_005045.4(RELN):c.9321C>T (p.Leu3107=)
|
rs150387973
|
0.00218
|
NM_017780.4(CHD7):c.1536A>G (p.Pro512=)
|
rs148577619
|
0.00218
|
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=)
|
rs376365984
|
0.00218
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu)
|
rs148291843
|
0.00217
|
NM_001142800.2(EYS):c.988G>A (p.Glu330Lys)
|
rs144803840
|
0.00217
|
NM_001164508.2(NEB):c.3348C>T (p.Asn1116=)
|
rs149162847
|
0.00217
|
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr)
|
rs73491901
|
0.00217
|
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=)
|
rs73491896
|
0.00217
|
NM_004463.3(FGD1):c.2268C>T (p.Cys756=)
|
rs61734178
|
0.00217
|
NM_005633.4(SOS1):c.1230G>A (p.Gln410=)
|
rs141390073
|
0.00217
|
NM_006514.4(SCN10A):c.1453C>T (p.Arg485Cys)
|
rs151153639
|
0.00217
|
NM_017780.4(CHD7):c.216T>C (p.Tyr72=)
|
rs16926453
|
0.00217
|
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)
|
rs45540031
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)
|
rs140639805
|
0.00216
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr)
|
rs151241025
|
0.00216
|
NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys)
|
rs186696516
|
0.00216
|
NM_004463.3(FGD1):c.1617G>A (p.Pro539=)
|
rs151184308
|
0.00216
|
NM_005120.3(MED12):c.1386G>T (p.Val462=)
|
rs186153976
|
0.00216
|
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp)
|
rs140842830
|
0.00215
|
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=)
|
rs142281464
|
0.00215
|
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)
|
rs188353745
|
0.00215
|
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)
|
rs138872455
|
0.00215
|
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=)
|
rs79232842
|
0.00215
|
NM_001493.3(GDI1):c.324C>T (p.Ser108=)
|
rs2230286
|
0.00215
|
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=)
|
rs139061654
|
0.00215
|
NM_005957.5(MTHFR):c.276C>T (p.Asp92=)
|
rs45546035
|
0.00215
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser)
|
rs34351171
|
0.00214
|
NM_001025389.2(AMPD3):c.1503C>T (p.Phe501=)
|
rs78473994
|
0.00214
|
NM_001851.6(COL9A1):c.138G>A (p.Lys46=)
|
rs139361722
|
0.00214
|
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746
|
0.00214
|
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val)
|
rs111033498
|
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_006005.3(WFS1):c.712+16G>A
|
rs71524367
|
0.00213
|
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=)
|
rs61755436
|
0.00213
|
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met)
|
rs145750007
|
0.00213
|
NM_024301.5(FKRP):c.1440C>T (p.Asn480=)
|
rs115365212
|
0.00213
|
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu)
|
rs144257406
|
0.00213
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln)
|
rs113653972
|
0.00212
|
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)
|
rs180787556
|
0.00212
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
NM_130837.3(OPA1):c.321G>A (p.Ser107=)
|
rs117888848
|
0.00212
|
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn)
|
rs55858252
|
0.00211
|
NM_001035.3(RYR2):c.6555+8C>T
|
rs1759122
|
0.00211
|
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)
|
rs77570029
|
0.00211
|
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser)
|
rs141817764
|
0.00211
|
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu)
|
rs145479679
|
0.00211
|
NM_004006.3(DMD):c.31+36946C>T
|
rs186833917
|
0.00211
|
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln)
|
rs150883816
|
0.00211
|
NM_017946.4(FKBP14):c.495G>A (p.Lys165=)
|
rs142474407
|
0.00211
|
NM_018979.4(WNK1):c.2490G>A (p.Pro830=)
|
rs79816263
|
0.00211
|
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=)
|
rs113152264
|
0.00210
|
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)
|
rs150844616
|
0.00210
|
NM_001849.4(COL6A2):c.1671+9C>T
|
rs186428044
|
0.00210
|
NM_004369.4(COL6A3):c.8465-34C>T
|
rs113165742
|
0.00210
|
NM_004637.6(RAB7A):c.423C>G (p.Ala141=)
|
rs61758751
|
0.00210
|
NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu)
|
rs76999928
|
0.00210
|
NM_014141.6(CNTNAP2):c.551-11T>G
|
rs78223661
|
0.00210
|
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)
|
rs115200071
|
0.00209
|
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=)
|
rs1051360
|
0.00209
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)
|
rs77656150
|
0.00209
|
NM_014491.4(FOXP2):c.552A>G (p.Gln184=)
|
rs146945410
|
0.00209
|
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=)
|
rs75221202
|
0.00208
|
NM_006445.4(PRPF8):c.1666C>T (p.Leu556=)
|
rs139305061
|
0.00208
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)
|
rs62636287
|
0.00208
|
NM_001378452.1(ITPR1):c.1886+7C>T
|
rs181465598
|
0.00207
|
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)
|
rs151129325
|
0.00207
|
NM_005422.4(TECTA):c.1812C>T (p.Ser604=)
|
rs138914618
|
0.00207
|
NM_006445.4(PRPF8):c.1929C>T (p.Gly643=)
|
rs140040625
|
0.00207
|
NM_172107.4(KCNQ2):c.*4G>A
|
rs1801508
|
0.00207
|
NM_000540.3(RYR1):c.12283-7C>T
|
rs143861818
|
0.00206
|
NM_002878.4(RAD51D):c.771C>T (p.Ser257=)
|
rs146212490
|
0.00206
|
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val)
|
rs141982003
|
0.00206
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
NM_021101.5(CLDN1):c.147G>A (p.Gly49=)
|
rs142242567
|
0.00206
|
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met)
|
rs144900277
|
0.00206
|
NM_001042545.2(LTBP4):c.3129C>T (p.Val1043=)
|
rs78745792
|
0.00205
|
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu)
|
rs76690956
|
0.00205
|
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr)
|
rs137960641
|
0.00205
|
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=)
|
rs140697524
|
0.00205
|
NM_003072.5(SMARCA4):c.*1G>T
|
rs76118382
|
0.00205
|
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser)
|
rs148593258
|
0.00205
|
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995
|
0.00205
|
NM_014319.5(LEMD3):c.1560+10C>T
|
rs144815611
|
0.00205
|
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)
|
rs77080672
|
0.00204
|
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser)
|
rs34371341
|
0.00204
|
NM_032119.4(ADGRV1):c.17735C>G (p.Ser5912Cys)
|
rs146120983
|
0.00204
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_000255.4(MMUT):c.1084-50A>G
|
rs141825870
|
0.00203
|
NM_000539.3(RHO):c.558G>A (p.Ser186=)
|
rs145549270
|
0.00203
|
NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)
|
rs149478199
|
0.00203
|
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys)
|
rs74664147
|
0.00203
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu)
|
rs75686037
|
0.00202
|
NM_000860.6(HPGD):c.93+1_93+3dup
|
rs70947447
|
0.00201
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
NM_015295.3(SMCHD1):c.1956+7C>T
|
rs145755468
|
0.00201
|
NM_033337.3(CAV3):c.-1G>A
|
rs74377241
|
0.00201
|
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=)
|
rs75593857
|
0.00200
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00200
|
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)
|
rs116426399
|
0.00200
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=)
|
rs149371169
|
0.00200
|
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln)
|
rs151158105
|
0.00200
|
NM_003072.5(SMARCA4):c.4768+10G>A
|
rs201665695
|
0.00200
|
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu)
|
rs189199944
|
0.00200
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr)
|
rs201070741
|
0.00200
|
NM_000329.3(RPE65):c.675C>G (p.Ile225Met)
|
rs114379164
|
0.00199
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
NM_000363.5(TNNI3):c.273G>A (p.Ala91=)
|
rs75491697
|
0.00198
|
NM_001374385.1(ATP8B1):c.189A>G (p.Thr63=)
|
rs35377845
|
0.00198
|
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967
|
0.00198
|
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=)
|
rs41263851
|
0.00198
|
NM_002976.4(SCN7A):c.2048G>A (p.Arg683Gln)
|
rs116825611
|
0.00198
|
NM_004006.3(DMD):c.10087-20C>T
|
rs41303187
|
0.00198
|
NM_004958.4(MTOR):c.663C>G (p.Thr221=)
|
rs112439072
|
0.00198
|
NM_006129.5(BMP1):c.1170G>T (p.Ala390=)
|
rs76021885
|
0.00198
|
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)
|
rs151193377
|
0.00197
|
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)
|
rs200378865
|
0.00197
|
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=)
|
rs138291748
|
0.00197
|
NM_004813.4(PEX16):c.*10C>T
|
rs201127195
|
0.00197
|
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala)
|
rs144914894
|
0.00197
|
NM_000053.4(ATP7B):c.3060+16G>T
|
rs76163470
|
0.00196
|
NM_001015880.2(PAPSS2):c.861A>G (p.Leu287=)
|
rs150727538
|
0.00196
|
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)
|
rs149013279
|
0.00196
|
NM_003722.5(TP63):c.399C>T (p.Pro133=)
|
rs145730343
|
0.00196
|
NM_017739.4(POMGNT1):c.236-13T>C
|
rs150578902
|
0.00196
|
NM_054027.6(ANKH):c.102G>A (p.Leu34=)
|
rs116591972
|
0.00196
|
NM_001848.3(COL6A1):c.2250+6G>C
|
rs202212586
|
0.00195
|
NM_001852.4(COL9A2):c.312C>T (p.Pro104=)
|
rs144072834
|
0.00195
|
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile)
|
rs199895011
|
0.00195
|
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=)
|
rs200369026
|
0.00195
|
NM_004006.3(DMD):c.2380+11G>A
|
rs183120304
|
0.00195
|
NM_006790.3(MYOT):c.822T>C (p.Ser274=)
|
rs138678049
|
0.00195
|
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val)
|
rs200528472
|
0.00195
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
NM_000388.4(CASR):c.2730C>A (p.Pro910=)
|
rs34200949
|
0.00194
|
NM_000719.7(CACNA1C):c.4829-7G>A
|
rs137904817
|
0.00194
|
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)
|
rs142381345
|
0.00194
|
NM_001364905.1(LRBA):c.*9G>T
|
rs150102345
|
0.00194
|
NM_001848.3(COL6A1):c.324C>T (p.Gly108=)
|
rs138646508
|
0.00194
|
NM_002335.4(LRP5):c.1968C>T (p.His656=)
|
rs144847027
|
0.00194
|
NM_014795.4(ZEB2):c.807+3G>C
|
rs144925893
|
0.00194
|
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=)
|
rs113454700
|
0.00194
|
NM_181486.4(TBX5):c.114C>T (p.Ser38=)
|
rs34014008
|
0.00194
|
NM_182961.4(SYNE1):c.23461-6A>C
|
rs145098375
|
0.00194
|
NM_207361.6(FREM2):c.84C>G (p.Pro28=)
|
rs141718695
|
0.00194
|
NM_000429.3(MAT1A):c.789C>T (p.Gly263=)
|
rs61734475
|
0.00193
|
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys)
|
rs147165298
|
0.00193
|
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly)
|
rs147227015
|
0.00193
|
NM_001142800.2(EYS):c.1985G>T (p.Arg662Met)
|
rs144430026
|
0.00193
|
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)
|
rs368487246
|
0.00193
|
NM_002473.6(MYH9):c.3485+8C>T
|
rs149559551
|
0.00193
|
NM_024757.5(EHMT1):c.480C>T (p.Gly160=)
|
rs150135875
|
0.00193
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)
|
rs149348130
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_000392.5(ABCC2):c.159A>G (p.Lys53=)
|
rs17222596
|
0.00191
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
NM_005477.3(HCN4):c.3587G>A (p.Arg1196His)
|
rs147181577
|
0.00191
|
NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu)
|
rs145318018
|
0.00191
|
NM_021072.4(HCN1):c.2172C>T (p.Ala724=)
|
rs56217199
|
0.00191
|
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=)
|
rs149278319
|
0.00191
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
NM_000363.5(TNNI3):c.550-10C>T
|
rs201240150
|
0.00190
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)
|
rs45567240
|
0.00190
|
NM_001164508.2(NEB):c.10452+9A>G
|
rs117270796
|
0.00190
|
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=)
|
rs117018177
|
0.00190
|
NM_005045.4(RELN):c.8120-9T>C
|
rs74952625
|
0.00190
|
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)
|
rs145164937
|
0.00190
|
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)
|
rs34921128
|
0.00190
|
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=)
|
rs141797498
|
0.00190
|
NM_170682.4(P2RX2):c.831G>A (p.Ser277=)
|
rs114365804
|
0.00190
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_000414.4(HSD17B4):c.281-7A>G
|
rs35201279
|
0.00189
|
NM_001110792.2(MECP2):c.618C>T (p.Ser206=)
|
rs61749711
|
0.00189
|
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu)
|
rs145977627
|
0.00189
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
0.00189
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)
|
rs116572520
|
0.00188
|
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)
|
rs142317580
|
0.00188
|
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=)
|
rs142277193
|
0.00188
|
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn)
|
rs144327167
|
0.00188
|
NM_001854.4(COL11A1):c.3979-3T>C
|
rs138464908
|
0.00188
|
NM_005122.5(NR1I3):c.289C>T (p.Arg97Trp)
|
rs34161743
|
0.00188
|
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=)
|
rs138025088
|
0.00188
|
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe)
|
rs149667250
|
0.00188
|
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser)
|
rs77618751
|
0.00188
|
NM_024426.6(WT1):c.123G>C (p.Pro41=)
|
rs555140661
|
0.00188
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_152384.3(BBS5):c.750C>T (p.Ile250=)
|
rs76138485
|
0.00188
|
NM_002473.6(MYH9):c.165C>T (p.Ile55=)
|
rs141948797
|
0.00187
|
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)
|
rs45572531
|
0.00187
|
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=)
|
rs201132710
|
0.00187
|
NM_018965.4(TREM2):c.469C>T (p.His157Tyr)
|
rs2234255
|
0.00187
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys)
|
rs117664682
|
0.00186
|
NM_001384732.1(CPLANE1):c.5738-6C>T
|
rs148634159
|
0.00186
|
NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=)
|
rs149526010
|
0.00186
|
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)
|
rs185149177
|
0.00186
|
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015
|
0.00186
|
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr)
|
rs76258939
|
0.00185
|
NM_000390.4(CHM):c.311C>G (p.Ala104Gly)
|
rs11539374
|
0.00185
|
NM_000532.5(PCCB):c.184-12G>T
|
rs181283691
|
0.00185
|
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=)
|
rs372582842
|
0.00185
|
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser)
|
rs147674680
|
0.00185
|
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu)
|
rs140402087
|
0.00185
|
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met)
|
rs145476116
|
0.00185
|
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)
|
rs3821945
|
0.00185
|
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=)
|
rs141521745
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_080680.3(COL11A2):c.2115+7T>C
|
rs186051366
|
0.00185
|
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)
|
rs149131555
|
0.00184
|
NM_003611.3(OFD1):c.1654+8A>G
|
rs200767363
|
0.00184
|
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=)
|
rs149289227
|
0.00183
|
NM_001164508.2(NEB):c.25542C>T (p.Thr8514=)
|
rs3821324
|
0.00183
|
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)
|
rs143867796
|
0.00183
|
NM_001378414.1(HDAC4):c.684G>A (p.Pro228=)
|
rs144387989
|
0.00183
|
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)
|
rs142611198
|
0.00183
|
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=)
|
rs80356851
|
0.00183
|
NM_017950.4(CCDC40):c.180G>A (p.Ala60=)
|
rs185006459
|
0.00183
|
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met)
|
rs33999936
|
0.00183
|
NM_032119.4(ADGRV1):c.15343C>T (p.Leu5115=)
|
rs41304886
|
0.00183
|
NM_201384.3(PLEC):c.4873G>A (p.Glu1625Lys)
|
rs187338487
|
0.00183
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_001083962.2(TCF4):c.73-3T>C
|
rs148658897
|
0.00182
|
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=)
|
rs11574420
|
0.00182
|
NM_006796.3(AFG3L2):c.1664-9T>C
|
rs200476229
|
0.00182
|
NM_000443.4(ABCB4):c.-1G>A
|
rs45449704
|
0.00181
|
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr)
|
rs149752325
|
0.00181
|
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn)
|
rs184740744
|
0.00181
|
NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His)
|
rs139686081
|
0.00181
|
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr)
|
rs61754648
|
0.00181
|
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)
|
rs3739206
|
0.00181
|
NM_015295.3(SMCHD1):c.4104C>T (p.Pro1368=)
|
rs117794949
|
0.00181
|
NM_182914.3(SYNE2):c.20197G>A (p.Glu6733Lys)
|
rs150172232
|
0.00181
|
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr)
|
rs116005499
|
0.00180
|
NM_005529.7(HSPG2):c.4437G>A (p.Glu1479=)
|
rs141463803
|
0.00180
|
NM_006662.3(SRCAP):c.132C>T (p.Gly44=)
|
rs149628651
|
0.00180
|
NM_000088.4(COL1A1):c.3531+10C>A
|
rs41316721
|
0.00179
|
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser)
|
rs140666247
|
0.00179
|
NM_001369.3(DNAH5):c.3363T>G (p.Ser1121=)
|
rs58266192
|
0.00179
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)
|
rs150807064
|
0.00179
|
NM_153638.4(PANK2):c.-11G>A
|
rs71647826
|
0.00179
|
NM_000327.4(ROM1):c.812T>C (p.Met271Thr)
|
rs137950927
|
0.00178
|
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=)
|
rs143944746
|
0.00178
|
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)
|
rs144215383
|
0.00178
|
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp)
|
rs139636644
|
0.00178
|
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu)
|
rs79144888
|
0.00178
|
NM_006059.4(LAMC3):c.1630+5C>G
|
rs184221540
|
0.00178
|
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu)
|
rs79464236
|
0.00178
|
NM_182914.3(SYNE2):c.8041G>A (p.Val2681Ile)
|
rs150946074
|
0.00178
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
NM_001369268.1(ACAN):c.4347C>T (p.Ser1449=)
|
rs60790354
|
0.00177
|
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)
|
rs114259687
|
0.00177
|
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)
|
rs61759495
|
0.00177
|
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)
|
rs147458358
|
0.00177
|
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892
|
0.00177
|
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)
|
rs149964491
|
0.00176
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_001161352.2(KCNMA1):c.2484+7G>A
|
rs13377017
|
0.00176
|
NM_001614.5(ACTG1):c.985-5T>C
|
rs370546734
|
0.00176
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)
|
rs151338404
|
0.00176
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
NM_031433.4(MFRP):c.773-9C>T
|
rs187321874
|
0.00176
|
NM_000443.4(ABCB4):c.1893+6T>C
|
rs8187798
|
0.00175
|
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=)
|
rs140279996
|
0.00175
|
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)
|
rs147132904
|
0.00175
|
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=)
|
rs78041051
|
0.00175
|
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)
|
rs141873759
|
0.00175
|
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val)
|
rs139940282
|
0.00175
|
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn)
|
rs60970824
|
0.00175
|
NM_005529.7(HSPG2):c.959-5C>T
|
rs149574138
|
0.00175
|
NM_018941.4(CLN8):c.11C>T (p.Ala4Val)
|
rs147181589
|
0.00175
|
NM_000093.5(COL5A1):c.277+6T>G
|
rs201910803
|
0.00174
|
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)
|
rs114630202
|
0.00174
|
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg)
|
rs34431454
|
0.00174
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
NM_000726.5(CACNB4):c.324C>T (p.Asp108=)
|
rs147647355
|
0.00173
|
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His)
|
rs201672146
|
0.00173
|
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)
|
rs113169531
|
0.00173
|
NM_004086.3(COCH):c.1026C>T (p.Tyr342=)
|
rs28362777
|
0.00173
|
NM_006486.3(FBLN1):c.1209C>T (p.Cys403=)
|
rs140586412
|
0.00173
|
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=)
|
rs72650721
|
0.00173
|
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=)
|
rs191249840
|
0.00173
|
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=)
|
rs138628147
|
0.00173
|
NM_000370.3(TTPA):c.24C>G (p.Pro8=)
|
rs140010311
|
0.00172
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)
|
rs189966800
|
0.00172
|
NM_001429.4(EP300):c.5259C>T (p.Cys1753=)
|
rs148040990
|
0.00172
|
NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu)
|
rs61744410
|
0.00172
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=)
|
rs17058435
|
0.00172
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_000900.5(MGP):c.23C>T (p.Ala8Val)
|
rs142330429
|
0.00171
|
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln)
|
rs118191309
|
0.00171
|
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile)
|
rs112829587
|
0.00171
|
NM_201384.3(PLEC):c.1042-4A>G
|
rs112966803
|
0.00171
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
NM_000194.3(HPRT1):c.480C>T (p.Val160=)
|
rs148780933
|
0.00170
|
NM_000235.4(LIPA):c.756A>C (p.Ile252=)
|
rs145037134
|
0.00170
|
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=)
|
rs114968951
|
0.00170
|
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=)
|
rs138416613
|
0.00170
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln)
|
rs2075164
|
0.00170
|
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)
|
rs143538947
|
0.00170
|
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile)
|
rs111353525
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000282.4(PCCA):c.1284+16G>A
|
rs113610934
|
0.00169
|
NM_001853.4(COL9A3):c.468C>T (p.Pro156=)
|
rs137979802
|
0.00169
|
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr)
|
rs17847484
|
0.00169
|
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly)
|
rs144727288
|
0.00169
|
NM_133379.5(TTN):c.14820G>A (p.Val4940=)
|
rs145029589
|
0.00169
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
NM_005634.3(SOX3):c.77T>C (p.Ile26Thr)
|
rs142709662
|
0.00168
|
NM_012254.3(SLC27A5):c.1125C>T (p.Gly375=)
|
rs144295671
|
0.00168
|
NM_177965.4(CFAP418):c.126G>C (p.Arg42=)
|
rs115853053
|
0.00168
|
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=)
|
rs142554239
|
0.00167
|
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=)
|
rs61746542
|
0.00167
|
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=)
|
rs145662546
|
0.00166
|
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)
|
rs76092524
|
0.00166
|
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp)
|
rs74482326
|
0.00166
|
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val)
|
rs150631721
|
0.00166
|
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=)
|
rs147984237
|
0.00166
|
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)
|
rs146263125
|
0.00166
|
NM_001379286.1(ZNF423):c.87C>T (p.Ser29=)
|
rs116537749
|
0.00166
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_003106.4(SOX2):c.834C>T (p.Leu278=)
|
rs144530684
|
0.00166
|
NM_005477.3(HCN4):c.1978+3G>T
|
rs113112855
|
0.00166
|
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=)
|
rs145415996
|
0.00166
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)
|
rs34718443
|
0.00165
|
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys)
|
rs201169452
|
0.00165
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser)
|
rs141625803
|
0.00164
|
NM_001164508.2(NEB):c.3639C>T (p.Val1213=)
|
rs74320183
|
0.00164
|
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)
|
rs8192671
|
0.00164
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_000719.7(CACNA1C):c.4624-9C>T
|
rs377568567
|
0.00163
|
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=)
|
rs141463437
|
0.00163
|
NM_002181.4(IHH):c.618C>T (p.Ala206=)
|
rs3731879
|
0.00163
|
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)
|
rs139590882
|
0.00163
|
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe)
|
rs147432147
|
0.00163
|
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)
|
rs35641267
|
0.00163
|
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val)
|
rs150589796
|
0.00163
|
NM_000036.3(AMPD1):c.334G>A (p.Val112Met)
|
rs61741025
|
0.00162
|
NM_001159699.2(FHL1):c.489C>T (p.Asp163=)
|
rs149670651
|
0.00162
|
NM_004006.3(DMD):c.1483-7C>G
|
rs112463388
|
0.00162
|
NM_001130987.2(DYSF):c.429C>T (p.Ser143=)
|
rs115390288
|
0.00161
|
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=)
|
rs140786324
|
0.00161
|
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)
|
rs1800549
|
0.00160
|
NM_001159773.2(CANT1):c.1134G>A (p.Thr378=)
|
rs35324359
|
0.00160
|
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)
|
rs143730090
|
0.00160
|
NM_006201.5(CDK16):c.1376-10C>T
|
rs200767933
|
0.00160
|
NM_006922.4(SCN3A):c.2118G>A (p.Val706=)
|
rs143450450
|
0.00160
|
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206
|
0.00160
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=)
|
rs143980709
|
0.00159
|
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)
|
rs190698163
|
0.00159
|
NM_001844.5(COL2A1):c.3003+9G>A
|
rs200403247
|
0.00159
|
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)
|
rs112170602
|
0.00159
|
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)
|
rs200250181
|
0.00159
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000314.8(PTEN):c.1104T>C (p.Asp368=)
|
rs35979531
|
0.00158
|
NM_000321.3(RB1):c.380+10C>G
|
rs187110786
|
0.00158
|
NM_000383.4(AIRE):c.1567-5C>T
|
rs192215705
|
0.00158
|
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=)
|
rs139495331
|
0.00158
|
NM_001235.5(SERPINH1):c.721+9T>C
|
rs138193444
|
0.00158
|
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)
|
rs149200506
|
0.00158
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
NM_005122.5(NR1I3):c.978C>T (p.Tyr326=)
|
rs79799851
|
0.00158
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
NM_013382.7(POMT2):c.1881G>A (p.Ala627=)
|
rs146588608
|
0.00158
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
NM_201384.3(PLEC):c.3210G>A (p.Thr1070=)
|
rs375699173
|
0.00158
|
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=)
|
rs61752362
|
0.00157
|
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn)
|
rs140907154
|
0.00157
|
NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu)
|
rs148247227
|
0.00157
|
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)
|
rs140014632
|
0.00157
|
NM_004817.4(TJP2):c.3342T>C (p.His1114=)
|
rs61753629
|
0.00157
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser)
|
rs190582637
|
0.00157
|
NM_201384.3(PLEC):c.6507G>A (p.Lys2169=)
|
rs199866902
|
0.00157
|
NM_001110556.2(FLNA):c.1429+8C>T
|
rs202181557
|
0.00156
|
NM_002335.4(LRP5):c.2295G>A (p.Ser765=)
|
rs140955013
|
0.00156
|
NM_005633.4(SOS1):c.2988G>A (p.Pro996=)
|
rs35462677
|
0.00156
|
NM_020800.3(IFT80):c.897G>A (p.Val299=)
|
rs145776235
|
0.00156
|
NM_053025.4(MYLK):c.4289-4C>G
|
rs376670657
|
0.00156
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
NM_000095.3(COMP):c.2262G>A (p.Leu754=)
|
rs150428337
|
0.00155
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00155
|
NM_001235.5(SERPINH1):c.267G>A (p.Thr89=)
|
rs139127426
|
0.00155
|
NM_005450.6(NOG):c.68C>T (p.Thr23Ile)
|
rs138776675
|
0.00155
|
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys)
|
rs143294539
|
0.00155
|
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)
|
rs143945573
|
0.00155
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
NM_001918.5(DBT):c.175+37G>A
|
rs76902654
|
0.00154
|
NM_007254.4(PNKP):c.636+7G>A
|
rs3739187
|
0.00154
|
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)
|
rs139659618
|
0.00154
|
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val)
|
rs139640224
|
0.00154
|
NM_000245.4(MET):c.654G>A (p.Arg218=)
|
rs35284565
|
0.00153
|
NM_000744.7(CHRNA4):c.1758+16G>A
|
rs113109615
|
0.00153
|
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)
|
rs144051476
|
0.00153
|
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)
|
rs182505786
|
0.00153
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_004006.3(DMD):c.8571T>C (p.Thr2857=)
|
rs72466570
|
0.00153
|
NM_017780.4(CHD7):c.712G>A (p.Val238Met)
|
rs200898742
|
0.00153
|
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)
|
rs148480919
|
0.00153
|
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)
|
rs121912280
|
0.00152
|
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=)
|
rs145304925
|
0.00152
|
NM_003049.4(SLC10A1):c.453G>A (p.Lys151=)
|
rs61329727
|
0.00152
|
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)
|
rs146044282
|
0.00152
|
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127
|
0.00152
|
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)
|
rs184545774
|
0.00151
|
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)
|
rs140830294
|
0.00151
|
NM_007126.5(VCP):c.79A>G (p.Ile27Val)
|
rs140913250
|
0.00151
|
NM_007317.3(KIF22):c.1506G>A (p.Glu502=)
|
rs111981375
|
0.00151
|
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly)
|
rs182332665
|
0.00151
|
NM_133379.5(TTN):c.15228C>A (p.Pro5076=)
|
rs143135505
|
0.00151
|
NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=)
|
rs34084584
|
0.00151
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=)
|
rs143223159
|
0.00150
|
NM_001035.3(RYR2):c.2301G>T (p.Ser767=)
|
rs117588730
|
0.00150
|
NM_001101.5(ACTB):c.168C>T (p.Asp56=)
|
rs13447398
|
0.00150
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=)
|
rs139329447
|
0.00150
|
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=)
|
rs147066476
|
0.00150
|
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln)
|
rs143163513
|
0.00150
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_024757.5(EHMT1):c.354T>G (p.Ser118=)
|
rs142271310
|
0.00150
|
NM_001371623.1(TCOF1):c.2088T>G (p.Ser696Arg)
|
rs140334121
|
0.00149
|
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)
|
rs41307518
|
0.00149
|
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
|
rs143796569
|
0.00149
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=)
|
rs144843013
|
0.00149
|
NM_000492.4(CFTR):c.1393-42G>A
|
rs34906874
|
0.00148
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00148
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
NM_001378452.1(ITPR1):c.2007-3T>C
|
rs200335594
|
0.00148
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_006182.4(DDR2):c.1509C>T (p.Cys503=)
|
rs144293078
|
0.00148
|
NM_013382.7(POMT2):c.1683T>C (p.Asn561=)
|
rs146307965
|
0.00148
|
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=)
|
rs192683347
|
0.00148
|
NM_001298.3(CNGA3):c.198C>T (p.Thr66=)
|
rs139544302
|
0.00147
|
NM_001966.4(EHHADH):c.302G>A (p.Gly101Glu)
|
rs142339349
|
0.00147
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00147
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
NM_000843.4(GRM6):c.1732C>T (p.Arg578Cys)
|
rs62638210
|
0.00146
|
NM_001164508.2(NEB):c.2318A>G (p.Tyr773Cys)
|
rs77151072
|
0.00146
|
NM_006031.6(PCNT):c.467A>G (p.His156Arg)
|
rs61735825
|
0.00146
|
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr)
|
rs78104547
|
0.00146
|
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=)
|
rs150451099
|
0.00146
|
NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser)
|
rs202040785
|
0.00146
|
NM_001101.5(ACTB):c.420A>G (p.Leu140=)
|
rs13447405
|
0.00145
|
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)
|
rs72648972
|
0.00145
|
NM_003742.4(ABCB11):c.1791G>T (p.Val597=)
|
rs11568371
|
0.00145
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn)
|
rs55952751
|
0.00145
|
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe)
|
rs149334244
|
0.00145
|
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=)
|
rs116087798
|
0.00145
|
NM_000156.6(GAMT):c.392-7C>T
|
rs192416474
|
0.00144
|
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe)
|
rs41313031
|
0.00144
|
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val)
|
rs117295656
|
0.00144
|
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)
|
rs202040332
|
0.00144
|
NM_004281.4(BAG3):c.1587C>T (p.Ala529=)
|
rs149358702
|
0.00144
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)
|
rs138661755
|
0.00144
|
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)
|
rs147263499
|
0.00143
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004187.5(KDM5C):c.2823A>G (p.Ser941=)
|
rs143955805
|
0.00143
|
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=)
|
rs146904895
|
0.00143
|
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)
|
rs141575580
|
0.00142
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_004385.5(VCAN):c.1864T>C (p.Trp622Arg)
|
rs147152203
|
0.00142
|
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile)
|
rs200926181
|
0.00142
|
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=)
|
rs200195310
|
0.00141
|
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile)
|
rs77072552
|
0.00141
|
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=)
|
rs77144869
|
0.00141
|
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)
|
rs79790275
|
0.00141
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
NM_000540.3(RYR1):c.11141+7A>G
|
rs78350770
|
0.00140
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr)
|
rs192350796
|
0.00140
|
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=)
|
rs142951817
|
0.00140
|
NM_012470.4(TNPO3):c.2652C>T (p.Thr884=)
|
rs149434536
|
0.00140
|
NM_014425.5(INVS):c.913G>A (p.Val305Ile)
|
rs116438342
|
0.00140
|
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser)
|
rs115475262
|
0.00140
|
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)
|
rs115076367
|
0.00140
|
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)
|
rs35820023
|
0.00139
|
NM_000314.8(PTEN):c.-9C>G
|
rs11202592
|
0.00139
|
NM_000492.4(CFTR):c.4243-5C>T
|
rs114402068
|
0.00138
|
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)
|
rs187153231
|
0.00138
|
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)
|
rs34932223
|
0.00138
|
NM_005634.3(SOX3):c.603G>A (p.Lys201=)
|
rs138530785
|
0.00138
|
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys)
|
rs148997223
|
0.00138
|
NM_000428.3(LTBP2):c.4905G>C (p.Leu1635=)
|
rs144520047
|
0.00137
|
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His)
|
rs11882073
|
0.00137
|
NM_001267550.2(TTN):c.48460+8C>T
|
rs2288565
|
0.00137
|
NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=)
|
rs117182648
|
0.00137
|
NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=)
|
rs2271771
|
0.00137
|
NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly)
|
rs143477571
|
0.00137
|
NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr)
|
rs79708790
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)
|
rs75133741
|
0.00136
|
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=)
|
rs142775086
|
0.00136
|
NM_203288.2(RP9):c.463G>A (p.Val155Ile)
|
rs58377403
|
0.00136
|
NM_000137.4(FAH):c.921A>G (p.Gly307=)
|
rs76338717
|
0.00135
|
NM_000292.3(PHKA2):c.742A>C (p.Arg248=)
|
rs149219369
|
0.00135
|
NM_000325.6(PITX2):c.819G>A (p.Pro273=)
|
rs148191851
|
0.00135
|
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val)
|
rs3745078
|
0.00135
|
NM_001458.5(FLNC):c.6459C>T (p.Thr2153=)
|
rs113618587
|
0.00135
|
NM_006019.4(TCIRG1):c.528C>A (p.Pro176=)
|
rs538805960
|
0.00135
|
NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg)
|
rs148648401
|
0.00135
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_000553.6(WRN):c.2950T>A (p.Leu984Ile)
|
rs146443310
|
0.00134
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_025074.7(FRAS1):c.4958C>T (p.Pro1653Leu)
|
rs6813102
|
0.00134
|
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly)
|
rs141315921
|
0.00134
|
NM_000082.4(ERCC8):c.77+16C>T
|
rs4647039
|
0.00133
|
NM_001267550.2(TTN):c.16621+7A>T
|
rs10200398
|
0.00133
|
NM_001458.5(FLNC):c.6005-9T>C
|
rs118124743
|
0.00133
|
NM_002133.3(HMOX1):c.330C>T (p.Ala110=)
|
rs150515195
|
0.00133
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NM_022455.5(NSD1):c.2835T>C (p.Ser945=)
|
rs145987330
|
0.00133
|
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=)
|
rs80069610
|
0.00133
|
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)
|
rs150550701
|
0.00133
|
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)
|
rs35379711
|
0.00133
|
NM_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu)
|
rs2233062
|
0.00132
|
NM_020361.5(CPA6):c.1077G>A (p.Gln359=)
|
rs143536122
|
0.00132
|
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=)
|
rs144708625
|
0.00131
|
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=)
|
rs138062080
|
0.00131
|
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=)
|
rs78731303
|
0.00131
|
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)
|
rs143236410
|
0.00131
|
NM_194318.4(B3GLCT):c.1064+10C>T
|
rs143013995
|
0.00131
|
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=)
|
rs78807992
|
0.00130
|
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=)
|
rs144585562
|
0.00130
|
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr)
|
rs57351269
|
0.00129
|
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=)
|
rs141974120
|
0.00129
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00129
|
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=)
|
rs146588152
|
0.00129
|
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)
|
rs76838169
|
0.00129
|
NM_006306.4(SMC1A):c.1545+4A>C
|
rs377270943
|
0.00129
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn)
|
rs201093148
|
0.00128
|
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys)
|
rs149534094
|
0.00128
|
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=)
|
rs139416105
|
0.00128
|
NM_003630.3(PEX3):c.1008T>C (p.Val336=)
|
rs141932856
|
0.00128
|
NM_003630.3(PEX3):c.856C>A (p.Arg286=)
|
rs147556993
|
0.00128
|
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)
|
rs182096110
|
0.00128
|
NM_145167.3(PIGM):c.819G>A (p.Pro273=)
|
rs138151842
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_000392.5(ABCC2):c.867+8T>C
|
rs74152764
|
0.00127
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_001110556.2(FLNA):c.6023-10C>G
|
rs72616474
|
0.00127
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala)
|
rs151043891
|
0.00127
|
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu)
|
rs185660524
|
0.00127
|
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)
|
rs186266220
|
0.00127
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_005476.7(GNE):c.1872G>A (p.Ala624=)
|
rs145361930
|
0.00126
|
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=)
|
rs186639101
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_001170629.2(CHD8):c.6650G>A (p.Arg2217Gln)
|
rs149307240
|
0.00125
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00125
|
NM_002024.6(FMR1):c.1572C>T (p.Ser524=)
|
rs143889976
|
0.00125
|
NM_018714.3(COG1):c.401C>T (p.Ser134Leu)
|
rs146066919
|
0.00125
|
NM_057176.3(BSND):c.189C>T (p.Val63=)
|
rs144505461
|
0.00125
|
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=)
|
rs201166370
|
0.00124
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met)
|
rs142296407
|
0.00124
|
NM_001374385.1(ATP8B1):c.234C>G (p.His78Gln)
|
rs3745079
|
0.00124
|
NM_001378615.1(CC2D2A):c.2181+7A>C
|
rs143681243
|
0.00124
|
NM_001458.5(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
0.00124
|
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)
|
rs72468692
|
0.00124
|
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)
|
rs116690555
|
0.00124
|
NM_004380.3(CREBBP):c.4133+4A>G
|
rs372126168
|
0.00124
|
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=)
|
rs61731405
|
0.00124
|
NM_198253.3(TERT):c.534C>T (p.Leu178=)
|
rs370420108
|
0.00124
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687
|
0.00123
|
NM_004273.5(CHST3):c.*7C>T
|
rs202242499
|
0.00123
|
NM_030665.4(RAI1):c.840G>A (p.Gln280=)
|
rs398124421
|
0.00123
|
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)
|
rs200055351
|
0.00123
|
NM_133497.4(KCNV2):c.612G>A (p.Glu204=)
|
rs186159326
|
0.00123
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=)
|
rs76270730
|
0.00122
|
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met)
|
rs35524572
|
0.00122
|
NM_005477.3(HCN4):c.546C>G (p.Pro182=)
|
rs571671463
|
0.00122
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_015404.4(WHRN):c.668G>A (p.Arg223His)
|
rs146273185
|
0.00122
|
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)
|
rs138231868
|
0.00121
|
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr)
|
rs35470719
|
0.00121
|
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)
|
rs147831309
|
0.00121
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_005343.4(HRAS):c.357C>T (p.Asp119=)
|
rs111352454
|
0.00121
|
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=)
|
rs4647130
|
0.00120
|
NM_004463.3(FGD1):c.2568C>T (p.Tyr856=)
|
rs61734179
|
0.00120
|
NM_020436.5(SALL4):c.1353C>T (p.Ala451=)
|
rs140110863
|
0.00120
|
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=)
|
rs142858644
|
0.00120
|
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val)
|
rs143490747
|
0.00120
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=)
|
rs79811945
|
0.00119
|
NM_001110792.2(MECP2):c.246C>T (p.Ser82=)
|
rs61754439
|
0.00119
|
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly)
|
rs145245774
|
0.00119
|
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)
|
rs78972735
|
0.00119
|
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)
|
rs11574410
|
0.00118
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys)
|
rs3764758
|
0.00118
|
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=)
|
rs150544061
|
0.00118
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)
|
rs144641429
|
0.00118
|
NM_178452.6(DNAAF1):c.1031-5A>T
|
rs79772571
|
0.00118
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_001037.5(SCN1B):c.588T>C (p.Asn196=)
|
rs77244433
|
0.00117
|
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)
|
rs145644275
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
|
rs149506027
|
0.00117
|
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile)
|
rs142946078
|
0.00117
|
NM_000133.4(F9):c.391+10T>G
|
rs375734226
|
0.00116
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu)
|
rs41313681
|
0.00115
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_001287.6(CLCN7):c.1806C>T (p.Tyr602=)
|
rs112753643
|
0.00115
|
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=)
|
rs146945932
|
0.00115
|
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=)
|
rs146020786
|
0.00115
|
NM_002024.6(FMR1):c.1857C>T (p.Asp619=)
|
rs45540244
|
0.00115
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)
|
rs140526335
|
0.00115
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00114
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276
|
0.00114
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=)
|
rs200813566
|
0.00113
|
NM_030665.4(RAI1):c.972G>A (p.Pro324=)
|
rs138675466
|
0.00113
|
NM_000093.5(COL5A1):c.3204+3G>A
|
rs202054108
|
0.00112
|
NM_012254.3(SLC27A5):c.1686G>A (p.Val562=)
|
rs201217575
|
0.00112
|
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)
|
rs182120395
|
0.00112
|
NM_000252.3(MTM1):c.339T>C (p.Cys113=)
|
rs147644722
|
0.00111
|
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp)
|
rs55857742
|
0.00111
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00111
|
NM_024408.4(NOTCH2):c.6479A>G (p.Tyr2160Cys)
|
rs35216058
|
0.00111
|
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=)
|
rs184650144
|
0.00111
|
NM_000726.5(CACNB4):c.792T>C (p.Ser264=)
|
rs139448267
|
0.00110
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
0.00110
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)
|
rs11571652
|
0.00109
|
NM_000162.5(GCK):c.660C>T (p.Cys220=)
|
rs142952813
|
0.00109
|
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)
|
rs55832587
|
0.00109
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met)
|
rs34737149
|
0.00109
|
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)
|
rs200990647
|
0.00109
|
NM_001061.7(TBXAS1):c.208C>T (p.Leu70Phe)
|
rs140463378
|
0.00108
|
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)
|
rs61752387
|
0.00108
|
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=)
|
rs139861062
|
0.00108
|
NM_001267550.2(TTN):c.91565-13C>T
|
rs200847757
|
0.00108
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)
|
rs140663434
|
0.00108
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
NM_002335.4(LRP5):c.2193C>T (p.Asn731=)
|
rs147388442
|
0.00108
|
NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=)
|
rs192659833
|
0.00108
|
NM_022455.5(NSD1):c.339C>T (p.Cys113=)
|
rs77093936
|
0.00108
|
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)
|
rs147307031
|
0.00107
|
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln)
|
rs188054898
|
0.00107
|
NM_001159699.2(FHL1):c.498C>T (p.Cys166=)
|
rs145445372
|
0.00107
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=)
|
rs147212187
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=)
|
rs142219317
|
0.00106
|
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=)
|
rs188104446
|
0.00106
|
NM_005333.5(HCCS):c.216G>C (p.Ala72=)
|
rs144152239
|
0.00106
|
NM_005957.5(MTHFR):c.417G>A (p.Thr139=)
|
rs2066466
|
0.00106
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile)
|
rs4870093
|
0.00106
|
NM_182961.4(SYNE1):c.21523-8T>G
|
rs187773880
|
0.00106
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
NM_001453.3(FOXC1):c.921C>T (p.Gly307=)
|
rs369300819
|
0.00105
|
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys)
|
rs148911180
|
0.00105
|
NM_000321.3(RB1):c.1961-12T>C
|
rs201697122
|
0.00104
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00104
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)
|
rs201807437
|
0.00104
|
NM_000035.4(ALDOB):c.324+8C>G
|
rs118168553
|
0.00103
|
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)
|
rs143532979
|
0.00103
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00103
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00103
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe)
|
rs188638970
|
0.00103
|
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
|
rs138329459
|
0.00103
|
NM_022124.6(CDH23):c.198G>A (p.Val66=)
|
rs111033288
|
0.00103
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
NM_001083961.2(WDR62):c.3231C>T (p.Pro1077=)
|
rs187029707
|
0.00102
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649
|
0.00102
|
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp)
|
rs201135654
|
0.00102
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_014467.3(SRPX2):c.481C>A (p.Arg161=)
|
rs150552508
|
0.00101
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
NM_021615.5(CHST6):c.993G>T (p.Gln331His)
|
rs140699573
|
0.00101
|
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=)
|
rs149003627
|
0.00101
|
NM_000169.3(GLA):c.978G>A (p.Lys326=)
|
rs151195362
|
0.00100
|
NM_005120.3(MED12):c.438A>G (p.Leu146=)
|
rs35068602
|
0.00100
|
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln)
|
rs144566713
|
0.00100
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=)
|
rs145401225
|
0.00099
|
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met)
|
rs142775128
|
0.00099
|
NM_005216.5(DDOST):c.711C>T (p.Arg237=)
|
rs34189097
|
0.00099
|
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val)
|
rs147947903
|
0.00099
|
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)
|
rs184324310
|
0.00098
|
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)
|
rs72646842
|
0.00098
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=)
|
rs199921300
|
0.00098
|
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_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr)
|
rs150161574
|
0.00096
|
NM_020436.5(SALL4):c.1497G>T (p.Thr499=)
|
rs148435082
|
0.00096
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)
|
rs116933453
|
0.00095
|
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu)
|
rs115548605
|
0.00095
|
NM_020779.4(WDR35):c.770T>C (p.Val257Ala)
|
rs142955097
|
0.00095
|
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)
|
rs55892928
|
0.00094
|
NM_014780.5(CUL7):c.465A>T (p.Gly155=)
|
rs150212051
|
0.00094
|
NM_182914.3(SYNE2):c.9347A>G (p.Lys3116Arg)
|
rs138689053
|
0.00094
|
NM_000159.4(GCDH):c.1011A>G (p.Ala337=)
|
rs2229460
|
0.00093
|
NM_000426.4(LAMA2):c.6649G>A (p.Val2217Ile)
|
rs147857398
|
0.00093
|
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)
|
rs201337011
|
0.00093
|
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=)
|
rs142359170
|
0.00093
|
NM_024685.4(BBS10):c.1545T>C (p.Asp515=)
|
rs77565309
|
0.00093
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
NM_003036.4(SKI):c.1851G>A (p.Glu617=)
|
rs146789646
|
0.00091
|
NM_003482.4(KMT2D):c.510+45T>G
|
rs370735843
|
0.00091
|
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
|
rs3027884
|
0.00091
|
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=)
|
rs184725551
|
0.00091
|
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro)
|
rs111902869
|
0.00091
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn)
|
rs139339184
|
0.00090
|
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)
|
rs3087425
|
0.00089
|
NM_005068.3(SIM1):c.1082C>T (p.Thr361Ile)
|
rs145479047
|
0.00089
|
NM_014780.5(CUL7):c.3695G>A (p.Arg1232Gln)
|
rs36004037
|
0.00089
|
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)
|
rs144493712
|
0.00089
|
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)
|
rs36215251
|
0.00089
|
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=)
|
rs141950964
|
0.00089
|
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys)
|
rs200465274
|
0.00088
|
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser)
|
rs150996735
|
0.00088
|
NM_002880.4(RAF1):c.1830A>G (p.Gln610=)
|
rs141791080
|
0.00088
|
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)
|
rs145697858
|
0.00087
|
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser)
|
rs141129877
|
0.00087
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_002206.3(ITGA7):c.791-7C>T
|
rs144699549
|
0.00087
|
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val)
|
rs112005830
|
0.00087
|
NM_000071.3(CBS):c.52C>T (p.Arg18Cys)
|
rs201827340
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=)
|
rs373274913
|
0.00086
|
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe)
|
rs115722008
|
0.00086
|
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe)
|
rs138153104
|
0.00086
|
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu)
|
rs146685404
|
0.00086
|
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=)
|
rs75648145
|
0.00085
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)
|
rs368772806
|
0.00085
|
NM_002024.6(FMR1):c.419+43T>C
|
rs191290706
|
0.00085
|
NM_017534.6(MYH2):c.2106C>T (p.Asn702=)
|
rs145039915
|
0.00085
|
NM_152415.3(VPS37A):c.-19G>A
|
rs59276128
|
0.00085
|
NM_000709.4(BCKDHA):c.376-4C>T
|
rs199725420
|
0.00084
|
NM_001367721.1(CASK):c.1077G>A (p.Ala359=)
|
rs145641295
|
0.00084
|
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr)
|
rs79377093
|
0.00084
|
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)
|
rs146673563
|
0.00084
|
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)
|
rs17752991
|
0.00084
|
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)
|
rs56240927
|
0.00083
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_003482.4(KMT2D):c.10045A>G (p.Met3349Val)
|
rs80149580
|
0.00083
|
NM_004086.3(COCH):c.1348A>G (p.Ile450Val)
|
rs139503327
|
0.00083
|
NM_014249.4(NR2E3):c.900G>A (p.Thr300=)
|
rs184906734
|
0.00083
|
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=)
|
rs115883756
|
0.00082
|
NM_001037.5(SCN1B):c.351C>T (p.Gly117=)
|
rs3746255
|
0.00082
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00082
|
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
|
rs35860166
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)
|
rs61753012
|
0.00081
|
NM_001164508.2(NEB):c.18783G>A (p.Gln6261=)
|
rs148095660
|
0.00081
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00081
|
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)
|
rs2236574
|
0.00081
|
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly)
|
rs150246733
|
0.00081
|
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=)
|
rs138528119
|
0.00081
|
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val)
|
rs201959200
|
0.00081
|
NM_001110792.2(MECP2):c.*9G>A
|
rs144008995
|
0.00080
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)
|
rs117122807
|
0.00080
|
NM_000036.3(AMPD1):c.1122G>A (p.Lys374=)
|
rs138993729
|
0.00079
|
NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile)
|
rs138217960
|
0.00079
|
NM_001267550.2(TTN):c.1537-4G>A
|
rs56006378
|
0.00079
|
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)
|
rs150572999
|
0.00079
|
NM_004463.3(FGD1):c.482-10G>A
|
rs146783766
|
0.00079
|
NM_000271.5(NPC1):c.1947+8G>C
|
rs66620415
|
0.00078
|
NM_001042702.5(PJVK):c.766+8T>C
|
rs185220846
|
0.00078
|
NM_001130438.3(SPTAN1):c.6960-8T>C
|
rs140241053
|
0.00078
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00078
|
NM_014795.4(ZEB2):c.798G>C (p.Gly266=)
|
rs34961586
|
0.00078
|
NM_016616.5(NME8):c.271-3T>C
|
rs191137504
|
0.00078
|
NM_017433.5(MYO3A):c.2133G>A (p.Leu711=)
|
rs56147819
|
0.00078
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00077
|
NM_000283.4(PDE6B):c.1401+4C>T
|
rs113246945
|
0.00077
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_001277313.2(FMN1):c.2718G>A (p.Pro906=)
|
rs370019638
|
0.00077
|
NM_004187.5(KDM5C):c.108C>T (p.Pro36=)
|
rs139309563
|
0.00077
|
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=)
|
rs140907869
|
0.00077
|
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro)
|
rs1805138
|
0.00076
|
NM_014254.3(RXYLT1):c.603C>T (p.Leu201=)
|
rs146732392
|
0.00076
|
NM_017780.4(CHD7):c.3202-5T>C
|
rs147994149
|
0.00076
|
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=)
|
rs139448147
|
0.00076
|
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val)
|
rs200061415
|
0.00076
|
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser)
|
rs45624939
|
0.00075
|
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)
|
rs72646867
|
0.00075
|
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr)
|
rs202013880
|
0.00075
|
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)
|
rs113153193
|
0.00075
|
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met)
|
rs138803855
|
0.00075
|
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=)
|
rs138560086
|
0.00075
|
NM_000283.4(PDE6B):c.1401+7_1401+8insA
|
rs537010934
|
0.00074
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
NM_000388.4(CASR):c.1285C>T (p.His429Tyr)
|
rs142818334
|
0.00073
|
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=)
|
rs144697999
|
0.00073
|
NM_001291415.2(KDM6A):c.3335A>T (p.His1112Leu)
|
rs141303384
|
0.00073
|
NM_014425.5(INVS):c.1704G>A (p.Gly568=)
|
rs114645869
|
0.00073
|
NM_022039.4(FBXW4):c.1380C>T (p.Phe460=)
|
rs145250200
|
0.00073
|
NM_022726.4(ELOVL4):c.699G>A (p.Thr233=)
|
rs17853840
|
0.00073
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=)
|
rs3734366
|
0.00073
|
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)
|
rs113962905
|
0.00073
|
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr)
|
rs145714752
|
0.00072
|
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)
|
rs117209107
|
0.00072
|
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met)
|
rs139043074
|
0.00072
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)
|
rs138064129
|
0.00071
|
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val)
|
rs200728466
|
0.00071
|
NM_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
0.00071
|
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)
|
rs201388780
|
0.00071
|
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg)
|
rs150583010
|
0.00071
|
NM_003336.4(UBE2A):c.321A>G (p.Thr107=)
|
rs61757566
|
0.00071
|
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)
|
rs140913030
|
0.00071
|
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn)
|
rs148509350
|
0.00071
|
NM_012418.4(FSCN2):c.984-7C>T
|
rs139335460
|
0.00071
|
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)
|
rs141391984
|
0.00070
|
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met)
|
rs61749720
|
0.00070
|
NM_001267550.2(TTN):c.30224-8T>G
|
rs72650010
|
0.00070
|
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)
|
rs13306758
|
0.00070
|
NM_024312.5(GNPTAB):c.323+36A>G
|
rs182910639
|
0.00070
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)
|
rs201366522
|
0.00069
|
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=)
|
rs148632119
|
0.00069
|
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=)
|
rs200273549
|
0.00069
|
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg)
|
rs143028540
|
0.00068
|
NM_004333.6(BRAF):c.1332G>A (p.Arg444=)
|
rs56101602
|
0.00068
|
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
|
rs35630194
|
0.00068
|
NM_000875.5(IGF1R):c.2570A>G (p.Asn857Ser)
|
rs45611935
|
0.00067
|
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=)
|
rs76956936
|
0.00067
|
NM_001605.3(AARS1):c.1044G>C (p.Thr348=)
|
rs181264712
|
0.00067
|
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)
|
rs28939695
|
0.00067
|
NM_012470.4(TNPO3):c.-9G>A
|
rs201636723
|
0.00067
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val)
|
rs139191491
|
0.00067
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)
|
rs147445499
|
0.00066
|
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser)
|
rs113997424
|
0.00066
|
NM_004006.3(DMD):c.1812C>T (p.Ala604=)
|
rs140919039
|
0.00066
|
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys)
|
rs112113370
|
0.00066
|
NM_018136.5(ASPM):c.844A>C (p.Asn282His)
|
rs113777932
|
0.00066
|
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr)
|
rs77736715
|
0.00066
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser)
|
rs2272938
|
0.00065
|
NM_000443.4(ABCB4):c.833+6G>A
|
rs202146217
|
0.00064
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_004006.3(DMD):c.2199C>T (p.Ser733=)
|
rs149882431
|
0.00064
|
NM_006662.3(SRCAP):c.4563T>A (p.Pro1521=)
|
rs138541811
|
0.00064
|
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp)
|
rs571095192
|
0.00064
|
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)
|
rs199875059
|
0.00064
|
NM_000235.4(LIPA):c.112-6C>T
|
rs141302830
|
0.00063
|
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=)
|
rs13306628
|
0.00063
|
NM_001277313.2(FMN1):c.2044-1461G>A
|
rs183013008
|
0.00063
|
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)
|
rs138817389
|
0.00063
|
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile)
|
rs1805025
|
0.00063
|
NM_014780.5(CUL7):c.4898C>T (p.Thr1633Met)
|
rs139249497
|
0.00063
|
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)
|
rs146819206
|
0.00063
|
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)
|
rs146801512
|
0.00063
|
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)
|
rs147202164
|
0.00063
|
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)
|
rs111033333
|
0.00063
|
NM_005249.5(FOXG1):c.489C>T (p.Gly163=)
|
rs375378714
|
0.00062
|
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=)
|
rs149964599
|
0.00062
|
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg)
|
rs146362213
|
0.00061
|
NM_001330260.2(SCN8A):c.2371-6A>G
|
rs187002252
|
0.00061
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu)
|
rs201581582
|
0.00061
|
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)
|
rs146124454
|
0.00061
|
NM_022455.5(NSD1):c.480C>T (p.Asp160=)
|
rs79427433
|
0.00061
|
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp)
|
rs144056525
|
0.00061
|
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
|
rs199917719
|
0.00060
|
NM_205861.3(DHDDS):c.542+8G>A
|
rs149948788
|
0.00060
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His)
|
rs138987487
|
0.00059
|
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=)
|
rs116817879
|
0.00059
|
NM_000157.4(GBA1):c.1497G>C (p.Val499=)
|
rs1135675
|
0.00058
|
NM_000492.4(CFTR):c.3717+45G>A
|
rs145743767
|
0.00058
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
NM_000552.5(VWF):c.1329C>T (p.Ser443=)
|
rs142404899
|
0.00058
|
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)
|
rs183844833
|
0.00058
|
NM_002764.4(PRPS1):c.942C>T (p.Ser314=)
|
rs147731055
|
0.00058
|
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu)
|
rs140827311
|
0.00058
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
NM_012254.3(SLC27A5):c.743G>A (p.Arg248His)
|
rs138318343
|
0.00058
|
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
|
rs45482691
|
0.00057
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_001386140.1(MTTP):c.1401A>G (p.Lys467=)
|
rs148469697
|
0.00057
|
NM_014491.4(FOXP2):c.483A>G (p.Gln161=)
|
rs62640396
|
0.00057
|
NM_001267550.2(TTN):c.32011+10C>G
|
rs192002980
|
0.00056
|
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)
|
rs149707354
|
0.00056
|
NM_014946.4(SPAST):c.683-9C>T
|
rs202209866
|
0.00056
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)
|
rs2071848
|
0.00055
|
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys)
|
rs147990742
|
0.00055
|
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)
|
rs183974372
|
0.00054
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)
|
rs11568367
|
0.00054
|
NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu)
|
rs74425496
|
0.00054
|
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)
|
rs150920473
|
0.00054
|
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)
|
rs141430703
|
0.00054
|
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=)
|
rs150331504
|
0.00054
|
NM_000417.3(IL2RA):c.711A>G (p.Thr237=)
|
rs11256354
|
0.00053
|
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)
|
rs78814506
|
0.00053
|
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)
|
rs145005596
|
0.00053
|
NM_001614.5(ACTG1):c.1017G>C (p.Val339=)
|
rs111305526
|
0.00053
|
NM_002207.3(ITGA9):c.897+50T>A
|
rs77438539
|
0.00053
|
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)
|
rs142004123
|
0.00053
|
NM_022124.6(CDH23):c.9077+7C>T
|
rs76114420
|
0.00053
|
NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly)
|
rs139684843
|
0.00053
|
NM_181303.2(NLGN3):c.594T>C (p.Gly198=)
|
rs144247281
|
0.00053
|
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=)
|
rs75817012
|
0.00053
|
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly)
|
rs148146916
|
0.00053
|
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)
|
rs150716811
|
0.00052
|
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=)
|
rs151098305
|
0.00052
|
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=)
|
rs35430888
|
0.00052
|
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile)
|
rs115446826
|
0.00052
|
NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg)
|
rs201506921
|
0.00051
|
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)
|
rs148781922
|
0.00051
|
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=)
|
rs146216425
|
0.00051
|
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)
|
rs142224492
|
0.00051
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
NM_000883.4(IMPDH1):c.1405+9A>G
|
rs11562030
|
0.00050
|
NM_001110792.2(MECP2):c.879C>T (p.Ala293=)
|
rs61750252
|
0.00050
|
NM_002103.5(GYS1):c.492+9C>T
|
rs191213443
|
0.00050
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)
|
rs191602135
|
0.00050
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
NM_144969.3(ZDHHC15):c.747C>T (p.Cys249=)
|
rs147278537
|
0.00049
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly)
|
rs148494847
|
0.00048
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=)
|
rs117517372
|
0.00048
|
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)
|
rs185711494
|
0.00048
|
NM_004006.3(DMD):c.2381-3T>C
|
rs147931243
|
0.00048
|
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala)
|
rs146065418
|
0.00048
|
NM_022124.6(CDH23):c.1078C>T (p.Leu360=)
|
rs185917383
|
0.00048
|
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=)
|
rs138676073
|
0.00048
|
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)
|
rs148546224
|
0.00047
|
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)
|
rs202017608
|
0.00047
|
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=)
|
rs146979083
|
0.00046
|
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)
|
rs147569641
|
0.00046
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00046
|
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)
|
rs181657861
|
0.00046
|
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=)
|
rs78315399
|
0.00046
|
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr)
|
rs144591812
|
0.00045
|
NM_005257.6(GATA6):c.1605A>G (p.Gln535=)
|
rs117646477
|
0.00045
|
NM_001291867.2(NHS):c.1596G>A (p.Glu532=)
|
rs146437542
|
0.00044
|
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
NM_145239.3(PRRT2):c.439G>C (p.Asp147His)
|
rs79568162
|
0.00044
|
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=)
|
rs191358470
|
0.00044
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)
|
rs140382957
|
0.00043
|
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)
|
rs137853825
|
0.00043
|
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=)
|
rs145608939
|
0.00042
|
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala)
|
rs149616320
|
0.00042
|
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr)
|
rs183119565
|
0.00042
|
NM_001127222.2(CACNA1A):c.5732-6T>C
|
rs16043
|
0.00041
|
NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His)
|
rs200477567
|
0.00041
|
NM_004380.3(CREBBP):c.879G>A (p.Val293=)
|
rs144344016
|
0.00041
|
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=)
|
rs201900751
|
0.00041
|
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)
|
rs150452237
|
0.00041
|
NM_014639.4(SKIC3):c.3079G>A (p.Gly1027Ser)
|
rs188952987
|
0.00041
|
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr)
|
rs202128602
|
0.00040
|
NM_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
NM_016239.4(MYO15A):c.3999C>T (p.Ala1333=)
|
rs192570479
|
0.00040
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)
|
rs144848376
|
0.00039
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=)
|
rs150219857
|
0.00039
|
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg)
|
rs2270668
|
0.00039
|
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)
|
rs139654605
|
0.00039
|
NM_182961.4(SYNE1):c.12411C>T (p.His4137=)
|
rs751325537
|
0.00039
|
NM_182961.4(SYNE1):c.19692+3G>A
|
rs150304757
|
0.00039
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000209.4(PDX1):c.336C>G (p.Pro112=)
|
rs149275902
|
0.00038
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
|
rs145012038
|
0.00038
|
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His)
|
rs141816797
|
0.00038
|
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=)
|
rs192122222
|
0.00038
|
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)
|
rs201374999
|
0.00038
|
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu)
|
rs142008620
|
0.00038
|
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=)
|
rs145062338
|
0.00038
|
NM_018136.5(ASPM):c.581C>A (p.Ala194Asp)
|
rs141532484
|
0.00038
|
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn)
|
rs114804083
|
0.00037
|
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys)
|
rs118010078
|
0.00037
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn)
|
rs201526436
|
0.00036
|
NM_014780.5(CUL7):c.1542G>T (p.Gln514His)
|
rs146808129
|
0.00036
|
NM_133379.5(TTN):c.10646G>A (p.Arg3549His)
|
rs148115514
|
0.00036
|
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly)
|
rs138018739
|
0.00035
|
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)
|
rs146782397
|
0.00035
|
NM_004006.3(DMD):c.1095A>C (p.Gln365His)
|
rs1800266
|
0.00035
|
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn)
|
rs201327014
|
0.00035
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=)
|
rs148556501
|
0.00035
|
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)
|
rs192301957
|
0.00034
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met)
|
rs116238578
|
0.00034
|
NM_004525.3(LRP2):c.2511C>T (p.Ala837=)
|
rs375313914
|
0.00034
|
NM_017534.6(MYH2):c.2304+7T>G
|
rs370223713
|
0.00034
|
NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe)
|
rs114184584
|
0.00034
|
NM_201384.3(PLEC):c.6162C>T (p.His2054=)
|
rs563719398
|
0.00034
|
NM_201525.4(ADGRG1):c.132C>T (p.Ser44=)
|
rs12599906
|
0.00034
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)
|
rs200201945
|
0.00033
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=)
|
rs139329419
|
0.00033
|
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val)
|
rs190664941
|
0.00033
|
NM_002206.3(ITGA7):c.999-4A>G
|
rs370741662
|
0.00033
|
NM_007254.4(PNKP):c.876A>G (p.Gly292=)
|
rs3739199
|
0.00033
|
NM_014795.4(ZEB2):c.759C>T (p.Arg253=)
|
rs150853991
|
0.00033
|
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr)
|
rs548002506
|
0.00033
|
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys)
|
rs199933282
|
0.00032
|
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
NM_000088.4(COL1A1):c.1002+10G>T
|
rs368316440
|
0.00031
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln)
|
rs201234047
|
0.00031
|
NM_001849.4(COL6A2):c.528G>A (p.Gln176=)
|
rs377585812
|
0.00031
|
NM_002206.3(ITGA7):c.2710C>T (p.Leu904=)
|
rs200149396
|
0.00031
|
NM_004006.3(DMD):c.5586+18A>G
|
rs189522063
|
0.00031
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met)
|
rs3796360
|
0.00031
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00030
|
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)
|
rs16010
|
0.00030
|
NM_001128205.2(SULF1):c.2440G>A (p.Val814Met)
|
rs117639561
|
0.00030
|
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)
|
rs199875474
|
0.00030
|
NM_001278116.2(L1CAM):c.1547-4T>A
|
rs200148275
|
0.00030
|
NM_001297.5(CNGB1):c.412+8C>A
|
rs185727761
|
0.00030
|
NM_003839.4(TNFRSF11A):c.1644G>C (p.Val548=)
|
rs35114461
|
0.00030
|
NM_004333.6(BRAF):c.2235A>G (p.Leu745=)
|
rs56046546
|
0.00030
|
NM_004385.5(VCAN):c.1895C>T (p.Thr632Met)
|
rs143729093
|
0.00030
|
NM_020686.6(ABAT):c.684G>A (p.Thr228=)
|
rs148143485
|
0.00030
|
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)
|
rs62635032
|
0.00029
|
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)
|
rs143992148
|
0.00029
|
NM_001366722.1(GRIP1):c.692C>T (p.Ala231Val)
|
rs150958775
|
0.00029
|
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=)
|
rs78336563
|
0.00029
|
NM_002951.5(RPN2):c.265T>C (p.Tyr89His)
|
rs146315738
|
0.00029
|
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val)
|
rs118109635
|
0.00029
|
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=)
|
rs201814201
|
0.00029
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)
|
rs184693266
|
0.00029
|
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His)
|
rs75665958
|
0.00029
|
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=)
|
rs117423703
|
0.00029
|
NM_001110792.2(MECP2):c.813C>T (p.Ala271=)
|
rs1042870
|
0.00028
|
NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=)
|
rs188900504
|
0.00028
|
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp)
|
rs151094883
|
0.00028
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
NM_004006.3(DMD):c.9804A>G (p.Gln3268=)
|
rs12690372
|
0.00027
|
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=)
|
rs114199044
|
0.00027
|
NM_144672.4(OTOA):c.921G>A (p.Ala307=)
|
rs12051473
|
0.00027
|
NM_000059.4(BRCA2):c.516+14C>T
|
rs182828913
|
0.00026
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
NM_001127649.3(PEX26):c.198C>T (p.Ala66=)
|
rs374290931
|
0.00026
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)
|
rs190694237
|
0.00026
|
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=)
|
rs149736203
|
0.00026
|
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser)
|
rs143854197
|
0.00026
|
NM_015102.5(NPHP4):c.1089G>T (p.Val363=)
|
rs201464887
|
0.00026
|
NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn)
|
rs74882029
|
0.00026
|
NM_182914.3(SYNE2):c.990+10A>G
|
rs145924910
|
0.00026
|
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=)
|
rs151034170
|
0.00026
|
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)
|
rs76784312
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr)
|
rs200306870
|
0.00025
|
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)
|
rs186448979
|
0.00025
|
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala)
|
rs193290006
|
0.00025
|
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=)
|
rs143159630
|
0.00025
|
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)
|
rs201483764
|
0.00025
|
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe)
|
rs140135976
|
0.00025
|
NM_000823.4(GHRHR):c.660G>A (p.Leu220=)
|
rs145466944
|
0.00024
|
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg)
|
rs77585883
|
0.00024
|
NM_001360.3(DHCR7):c.987C>T (p.Pro329=)
|
rs145901607
|
0.00024
|
NM_015311.3(OBSL1):c.423G>A (p.Arg141=)
|
rs79796143
|
0.00024
|
NM_015404.4(WHRN):c.1608C>G (p.Thr536=)
|
rs139337135
|
0.00024
|
NM_171998.4(RAB39B):c.543A>G (p.Thr181=)
|
rs369970931
|
0.00024
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_001164508.2(NEB):c.2343G>A (p.Lys781=)
|
rs191610670
|
0.00023
|
NM_001278182.2(EOMES):c.359C>G (p.Ala120Gly)
|
rs1874198
|
0.00023
|
NM_002578.5(PAK3):c.601-10G>T
|
rs185674324
|
0.00023
|
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=)
|
rs140524372
|
0.00023
|
NM_003919.3(SGCE):c.1072C>T (p.Leu358=)
|
rs139062360
|
0.00023
|
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=)
|
rs138452567
|
0.00022
|
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
|
rs201824641
|
0.00022
|
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)
|
rs528149001
|
0.00022
|
NM_004183.4(BEST1):c.495G>A (p.Pro165=)
|
rs182941675
|
0.00022
|
NM_000441.2(SLC26A4):c.1544+9C>T
|
rs368970459
|
0.00021
|
NM_000487.6(ARSA):c.636C>T (p.Ala212=)
|
rs200182983
|
0.00021
|
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=)
|
rs61751442
|
0.00021
|
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=)
|
rs200471732
|
0.00021
|
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)
|
rs199996308
|
0.00021
|
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)
|
rs201263441
|
0.00021
|
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)
|
rs199986217
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_015294.6(TRIM37):c.2577-7C>G
|
rs199694001
|
0.00021
|
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)
|
rs200880341
|
0.00021
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_001039141.3(TRIOBP):c.3074G>A (p.Arg1025Gln)
|
rs368593552
|
0.00020
|
NM_001110556.2(FLNA):c.732C>T (p.Pro244=)
|
rs371092631
|
0.00020
|
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)
|
rs61752980
|
0.00020
|
NM_001110792.2(MECP2):c.462C>T (p.Phe154=)
|
rs61748397
|
0.00020
|
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu)
|
rs200578414
|
0.00020
|
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn)
|
rs182708940
|
0.00020
|
NM_004006.3(DMD):c.1809G>A (p.Leu603=)
|
rs192176661
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_020800.3(IFT80):c.933A>G (p.Thr311=)
|
rs138798955
|
0.00020
|
NM_022436.3(ABCG5):c.897C>T (p.Asp299=)
|
rs373237261
|
0.00020
|
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala)
|
rs76345011
|
0.00020
|
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser)
|
rs142132973
|
0.00020
|
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala)
|
rs200372118
|
0.00020
|
NM_000117.3(EMD):c.445G>C (p.Asp149His)
|
rs2070818
|
0.00019
|
NM_000214.3(JAG1):c.2073T>C (p.Cys691=)
|
rs200648035
|
0.00019
|
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly)
|
rs1805127
|
0.00019
|
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala)
|
rs187435179
|
0.00019
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
NM_001134793.2(HYLS1):c.24A>G (p.Gly8=)
|
rs145001537
|
0.00019
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)
|
rs76928874
|
0.00019
|
NM_003482.4(KMT2D):c.2838G>A (p.Ala946=)
|
rs376753331
|
0.00019
|
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His)
|
rs143733126
|
0.00019
|
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=)
|
rs202036871
|
0.00019
|
NM_133379.5(TTN):c.13614A>C (p.Gln4538His)
|
rs139344272
|
0.00019
|
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)
|
rs528369909
|
0.00018
|
NM_000169.3(GLA):c.129C>T (p.Gly43=)
|
rs146177035
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=)
|
rs398124212
|
0.00018
|
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=)
|
rs148697943
|
0.00018
|
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly)
|
rs202008454
|
0.00018
|
NM_012301.4(MAGI2):c.528G>A (p.Gly176=)
|
rs140651421
|
0.00018
|
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His)
|
rs143669310
|
0.00018
|
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=)
|
rs115777661
|
0.00017
|
NM_001111.5(ADAR):c.2496+9G>A
|
rs199698434
|
0.00017
|
NM_001368397.1(FRMPD4):c.3379G>A (p.Glu1127Lys)
|
rs143423231
|
0.00017
|
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)
|
rs144051775
|
0.00017
|
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=)
|
rs587781024
|
0.00017
|
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)
|
rs3747834
|
0.00017
|
NM_133379.5(TTN):c.15981G>A (p.Gln5327=)
|
rs186841908
|
0.00017
|
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)
|
rs375914028
|
0.00016
|
NM_000334.4(SCN4A):c.963C>T (p.Asn321=)
|
rs748863960
|
0.00016
|
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser)
|
rs148090804
|
0.00016
|
NM_001032221.6(STXBP1):c.902+9C>A
|
rs200737004
|
0.00016
|
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)
|
rs201263814
|
0.00016
|
NM_002880.4(RAF1):c.119G>A (p.Arg40His)
|
rs192632236
|
0.00016
|
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe)
|
rs587778471
|
0.00016
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)
|
rs143205855
|
0.00015
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
NM_001083962.2(TCF4):c.208-8A>G
|
rs184943897
|
0.00015
|
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)
|
rs185957513
|
0.00015
|
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)
|
rs181711180
|
0.00015
|
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met)
|
rs114511558
|
0.00015
|
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro)
|
rs577305576
|
0.00015
|
NM_000414.4(HSD17B4):c.1767+8T>C
|
rs190659146
|
0.00014
|
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)
|
rs201989984
|
0.00014
|
NM_001061.7(TBXAS1):c.183+5G>A
|
rs368506589
|
0.00014
|
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=)
|
rs3731753
|
0.00014
|
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)
|
rs563969986
|
0.00014
|
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)
|
rs185072004
|
0.00014
|
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
|
rs185706283
|
0.00014
|
NM_004385.5(VCAN):c.4546A>G (p.Lys1516Glu)
|
rs144610900
|
0.00014
|
NM_004817.4(TJP2):c.375C>T (p.Ala125=)
|
rs181450555
|
0.00014
|
NM_182914.3(SYNE2):c.2013G>A (p.Leu671=)
|
rs371320284
|
0.00014
|
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)
|
rs77473319
|
0.00013
|
NM_001110792.2(MECP2):c.897C>T (p.Ala299=)
|
rs139378224
|
0.00013
|
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=)
|
rs773886758
|
0.00013
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
NM_001378414.1(HDAC4):c.1101G>A (p.Thr367=)
|
rs371792033
|
0.00013
|
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)
|
rs536108231
|
0.00013
|
NM_004369.4(COL6A3):c.6064-6C>T
|
rs202091342
|
0.00013
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr)
|
rs144499152
|
0.00012
|
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)
|
rs146219199
|
0.00012
|
NM_001267550.2(TTN):c.39045G>C (p.Val13015=)
|
rs192464868
|
0.00012
|
NM_001429.4(EP300):c.4026-7T>C
|
rs187388966
|
0.00012
|
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=)
|
rs374289523
|
0.00011
|
NM_001195248.2(APTX):c.762G>A (p.Pro254=)
|
rs571475924
|
0.00011
|
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro)
|
rs181395238
|
0.00011
|
NM_001369268.1(ACAN):c.2037G>A (p.Ala679=)
|
rs372553119
|
0.00011
|
NM_003482.4(KMT2D):c.4143G>A (p.Val1381=)
|
rs398123745
|
0.00011
|
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met)
|
rs115297652
|
0.00011
|
NM_004560.4(ROR2):c.2466C>T (p.Asn822=)
|
rs146432734
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00011
|
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)
|
rs150284356
|
0.00011
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)
|
rs149534277
|
0.00010
|
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=)
|
rs200661931
|
0.00010
|
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala)
|
rs61748422
|
0.00010
|
NM_001164508.2(NEB):c.23055G>A (p.Gly7685=)
|
rs563896790
|
0.00010
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
NM_015506.3(MMACHC):c.165G>A (p.Thr55=)
|
rs369883781
|
0.00010
|
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln)
|
rs201887949
|
0.00010
|
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)
|
rs149272010
|
0.00010
|
NM_201384.3(PLEC):c.1815+10G>A
|
rs398123396
|
0.00010
|
NM_000137.4(FAH):c.1209C>T (p.Ile403=)
|
rs111345782
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln)
|
rs398123531
|
0.00009
|
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=)
|
rs201171029
|
0.00009
|
NM_000417.3(IL2RA):c.457G>A (p.Val153Ile)
|
rs201188114
|
0.00009
|
NM_000489.6(ATRX):c.570T>G (p.Pro190=)
|
rs188831993
|
0.00009
|
NM_001039.4(SCNN1G):c.699C>T (p.His233=)
|
rs192839222
|
0.00009
|
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile)
|
rs61753966
|
0.00009
|
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)
|
rs61750243
|
0.00009
|
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=)
|
rs200992636
|
0.00009
|
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val)
|
rs200239695
|
0.00009
|
NM_004380.3(CREBBP):c.681T>C (p.Pro227=)
|
rs201193684
|
0.00009
|
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)
|
rs117157204
|
0.00009
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr)
|
rs369395479
|
0.00009
|
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)
|
rs2291703
|
0.00009
|
NM_201548.5(CERKL):c.677+578T>C
|
rs200512836
|
0.00009
|
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=)
|
rs201488442
|
0.00008
|
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)
|
rs587781033
|
0.00008
|
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)
|
rs532102837
|
0.00008
|
NM_001429.4(EP300):c.6729C>T (p.Gly2243=)
|
rs765194008
|
0.00008
|
NM_004937.3(CTNS):c.356G>A (p.Arg119His)
|
rs375970075
|
0.00008
|
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=)
|
rs572222540
|
0.00008
|
NM_006059.4(LAMC3):c.4068G>A (p.Ala1356=)
|
rs377618961
|
0.00008
|
NM_015295.3(SMCHD1):c.2147-5C>T
|
rs184984483
|
0.00008
|
NM_021167.5(GATAD1):c.558G>A (p.Thr186=)
|
rs141932124
|
0.00008
|
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr)
|
rs199565938
|
0.00008
|
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)
|
rs61750246
|
0.00007
|
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser)
|
rs149360738
|
0.00007
|
NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln)
|
rs534045685
|
0.00007
|
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=)
|
rs141934227
|
0.00006
|
NM_000181.4(GUSB):c.678C>T (p.Thr226=)
|
rs537957979
|
0.00006
|
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=)
|
rs201302013
|
0.00006
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
0.00006
|
NM_002025.4(AFF2):c.2196C>T (p.Val732=)
|
rs202015083
|
0.00006
|
NM_004595.5(SMS):c.569C>T (p.Thr190Ile)
|
rs201275730
|
0.00006
|
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala)
|
rs377662366
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val)
|
rs552158003
|
0.00006
|
NM_025193.4(HSD3B7):c.71A>G (p.His24Arg)
|
rs201796375
|
0.00006
|
NM_025265.4(TSEN2):c.870A>G (p.Pro290=)
|
rs542708828
|
0.00006
|
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)
|
rs200412477
|
0.00006
|
NM_181486.4(TBX5):c.786C>T (p.Thr262=)
|
rs375955080
|
0.00006
|
NM_201384.3(PLEC):c.6059A>C (p.Glu2020Ala)
|
rs367662560
|
0.00006
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
NM_000219.6(KCNE1):c.30G>A (p.Thr10=)
|
rs187686559
|
0.00005
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
NM_001164508.2(NEB):c.10463G>A (p.Arg3488His)
|
rs371605774
|
0.00005
|
NM_001164508.2(NEB):c.863A>G (p.Lys288Arg)
|
rs202035863
|
0.00005
|
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met)
|
rs370375696
|
0.00005
|
NM_004260.4(RECQL4):c.755C>T (p.Pro252Leu)
|
rs199773279
|
0.00005
|
NM_004560.4(ROR2):c.1712A>G (p.His571Arg)
|
rs376970201
|
0.00005
|
NM_012470.4(TNPO3):c.2431-6A>C
|
rs190759031
|
0.00005
|
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=)
|
rs143189638
|
0.00005
|
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)
|
rs560303559
|
0.00005
|
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=)
|
rs374376301
|
0.00005
|
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)
|
rs549319429
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_000744.7(CHRNA4):c.383+7C>T
|
rs200690355
|
0.00004
|
NM_001039213.4(CEACAM16):c.51T>C (p.Asn17=)
|
rs202230938
|
0.00004
|
NM_001098671.2(RASGRP2):c.240-6C>T
|
rs201340963
|
0.00004
|
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)
|
rs782426283
|
0.00004
|
NM_001918.5(DBT):c.1210-10_1210-9del
|
rs794726986
|
0.00004
|
NM_004006.3(DMD):c.4275A>G (p.Glu1425=)
|
rs72468647
|
0.00004
|
NM_014141.6(CNTNAP2):c.3716-6C>G
|
rs77025884
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=)
|
rs567120742
|
0.00004
|
NM_015404.4(WHRN):c.933A>C (p.Pro311=)
|
rs569159249
|
0.00004
|
NM_023036.6(DNAI2):c.933G>A (p.Lys311=)
|
rs570168701
|
0.00004
|
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln)
|
rs369775705
|
0.00004
|
NM_000256.3(MYBPC3):c.1790+7G>A
|
rs374852831
|
0.00003
|
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp)
|
rs199974771
|
0.00003
|
NM_000426.4(LAMA2):c.5688C>T (p.His1896=)
|
rs573779258
|
0.00003
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
NM_001367721.1(CASK):c.1669-9C>A
|
rs562152407
|
0.00003
|
NM_001614.5(ACTG1):c.693A>G (p.Ala231=)
|
rs534061526
|
0.00003
|
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=)
|
rs780149034
|
0.00003
|
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)
|
rs200287696
|
0.00003
|
NM_004562.3(PRKN):c.1017G>A (p.Ala339=)
|
rs546676036
|
0.00003
|
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met)
|
rs143438888
|
0.00003
|
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)
|
rs188966938
|
0.00003
|
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=)
|
rs144488384
|
0.00003
|
NM_130837.3(OPA1):c.448+50A>G
|
rs377239493
|
0.00003
|
NM_139343.3(BIN1):c.1003-16C>T
|
rs547659375
|
0.00003
|
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=)
|
rs549882307
|
0.00003
|
NM_201384.3(PLEC):c.3191G>A (p.Arg1064His)
|
rs571362398
|
0.00003
|
NM_201384.3(PLEC):c.4083G>A (p.Arg1361=)
|
rs377619355
|
0.00003
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000214.3(JAG1):c.388-4G>C
|
rs567027490
|
0.00002
|
NM_000452.3(SLC10A2):c.190C>T (p.Arg64Trp)
|
rs142620512
|
0.00002
|
NM_001042432.2(CLN3):c.240G>A (p.Thr80=)
|
rs373911322
|
0.00002
|
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)
|
rs782129236
|
0.00002
|
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu)
|
rs551261559
|
0.00002
|
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met)
|
rs371496970
|
0.00002
|
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)
|
rs548223512
|
0.00002
|
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys)
|
rs397517702
|
0.00002
|
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=)
|
rs202082978
|
0.00002
|
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
|
rs142002945
|
0.00002
|
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser)
|
rs774823793
|
0.00002
|
NM_003482.4(KMT2D):c.5477G>T (p.Gly1826Val)
|
rs574989512
|
0.00002
|
NM_006059.4(LAMC3):c.3624G>A (p.Glu1208=)
|
rs569440839
|
0.00002
|
NM_007126.5(VCP):c.2214A>G (p.Glu738=)
|
rs374391034
|
0.00002
|
NM_020631.6(PLEKHG5):c.440-10C>T
|
rs201656051
|
0.00002
|
NM_024408.4(NOTCH2):c.6924G>A (p.Gln2308=)
|
rs376191548
|
0.00002
|
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly)
|
rs782154314
|
0.00001
|
NM_000138.5(FBN1):c.75G>A (p.Ala25=)
|
rs543230518
|
0.00001
|
NM_000203.5(IDUA):c.1771G>A (p.Ala591Thr)
|
rs398123257
|
0.00001
|
NM_000214.3(JAG1):c.2559C>T (p.Ala853=)
|
rs201234393
|
0.00001
|
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=)
|
rs535699325
|
0.00001
|
NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr)
|
rs571059484
|
0.00001
|
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)
|
rs397516526
|
0.00001
|
NM_001128178.3(NPHP1):c.859+5T>C
|
rs374379957
|
0.00001
|
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)
|
rs571559303
|
0.00001
|
NM_001193315.2(VIPAS39):c.1014C>T (p.Phe338=)
|
rs199839422
|
0.00001
|
NM_001203.3(BMPR1B):c.247-4A>G
|
rs570808649
|
0.00001
|
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)
|
rs539735520
|
0.00001
|
NM_001267550.2(TTN):c.61224G>A (p.Val20408=)
|
rs566188777
|
0.00001
|
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)
|
rs397517691
|
0.00001
|
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)
|
rs369855092
|
0.00001
|
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)
|
rs553668520
|
0.00001
|
NM_001277313.2(FMN1):c.3708T>C (p.Tyr1236=)
|
rs370853923
|
0.00001
|
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)
|
rs368473756
|
0.00001
|
NM_001367721.1(CASK):c.2019T>G (p.Pro673=)
|
rs546044640
|
0.00001
|
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser)
|
rs572826436
|
0.00001
|
NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg)
|
rs530742766
|
0.00001
|
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg)
|
rs773782786
|
0.00001
|
NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln)
|
rs750579766
|
0.00001
|
NM_004369.4(COL6A3):c.1587A>G (p.Leu529=)
|
rs574912582
|
0.00001
|
NM_006790.3(MYOT):c.630G>A (p.Ser210=)
|
rs375308029
|
0.00001
|
NM_014425.5(INVS):c.1980A>G (p.Gly660=)
|
rs139314036
|
0.00001
|
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser)
|
rs144154908
|
0.00001
|
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met)
|
rs536643888
|
0.00001
|
NM_015311.3(OBSL1):c.600G>A (p.Arg200=)
|
rs373739744
|
0.00001
|
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)
|
rs554680915
|
0.00001
|
NM_024408.4(NOTCH2):c.2026+6G>T
|
rs587731563
|
0.00001
|
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=)
|
rs201655114
|
0.00001
|
NM_032119.4(ADGRV1):c.13654-5C>T
|
rs367554300
|
0.00001
|
NM_032119.4(ADGRV1):c.8730+9C>T
|
rs886043931
|
0.00001
|
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr)
|
rs398124184
|
0.00001
|
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)
|
rs138453594
|
0.00001
|
NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=)
|
rs571386763
|
0.00001
|
NM_170699.3(GPBAR1):c.505G>A (p.Glu169Lys)
|
rs200096596
|
0.00001
|
NM_181332.3(NLGN4X):c.2223C>T (p.His741=)
|
rs541646409
|
0.00001
|
NM_182914.3(SYNE2):c.5608A>C (p.Ser1870Arg)
|
rs368227332
|
0.00001
|
NM_182914.3(SYNE2):c.9974C>T (p.Ala3325Val)
|
rs377173620
|
0.00001
|
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=)
|
rs149393972
|
0.00001
|
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val)
|
rs566004273
|
0.00001
|
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser)
|
rs568309673
|
0.00001
|
NM_201384.3(PLEC):c.12549C>T (p.Ile4183=)
|
rs199512865
|
0.00001
|
NM_201384.3(PLEC):c.465G>A (p.Ser155=)
|
rs398123399
|
0.00001
|
NC_000012.12:g.121626879_121626884delACCGCC
|
|
|
NM_000019.4(ACAT1):c.*6dup
|
rs111390656
|
|
NM_000019.4(ACAT1):c.436-4G>A
|
rs3741050
|
|
NM_000019.4(ACAT1):c.941-15_941-14del
|
rs5794588
|
|
NM_000023.4(SGCA):c.38-46G>C
|
rs142537375
|
|
NM_000026.4(ADSL):c.216C>T (p.Ile72=)
|
rs145786986
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
NM_000033.4(ABCD1):c.1489-24C>G
|
rs149185761
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
|
rs146360505
|
|
NM_000036.3(AMPD1):c.224G>A (p.Arg75His)
|
rs61738827
|
|
NM_000036.3(AMPD1):c.382-6del
|
rs727503806
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup)
|
rs3032358
|
|
NM_000049.4(ASPA):c.693C>T (p.Tyr231=)
|
rs12948217
|
|
NM_000049.4(ASPA):c.831C>T (p.Thr277=)
|
rs78677072
|
|
NM_000051.4(ATM):c.5948= (p.Ser1983=)
|
rs659243
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)
|
rs1799955
|
|
NM_000071.3(CBS):c.*10C>A
|
rs9978104
|
|
NM_000071.3(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Pro282_Glu283insLysGlyProSerSerGlnSerArgArgSerTer)
|
rs786200967
|
|
NM_000080.4(CHRNE):c.1219+17_1219+22del
|
rs148340961
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000089.4(COL1A2):c.1252-7dup
|
rs35587403
|
|
NM_000089.4(COL1A2):c.226-11dup
|
rs199593359
|
|
NM_000089.4(COL1A2):c.71-7del
|
rs144776919
|
|
NM_000090.4(COL3A1):c.1348-4dup
|
rs758567906
|
|
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)
|
rs56247709
|
|
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
|
rs2228560
|
|
NM_000095.3(COMP):c.218-14C>T
|
rs150008764
|
|
NM_000096.4(CP):c.2286-15G>T
|
rs34861155
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)
|
rs2070956
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000155.4(GALT):c.414G>T (p.Thr138=)
|
rs116479817
|
|
NM_000155.4(GALT):c.508-17G>A
|
rs12000481
|
|
NM_000168.6(GLI3):c.2826G>C (p.Pro942=)
|
rs34245321
|
|
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile)
|
rs886043721
|
|
NM_000169.3(GLA):c.370-81_370-77del
|
rs5903184
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3646+35_3646+38del
|
rs1805181
|
|
NM_000179.3(MSH6):c.3646+91T>C
|
rs3136359
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000181.4(GUSB):c.724+23TC[3]
|
rs3830444
|
|
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup)
|
rs3839049
|
|
NM_000194.3(HPRT1):c.319-7del
|
rs371480320
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000199.5(SGSH):c.664-39_664-36delinsGC
|
rs386799751
|
|
NM_000203.5(IDUA):c.1190-10del
|
rs150523349
|
|
NM_000203.5(IDUA):c.1190-10dup
|
rs150523349
|
|
NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
|
rs115790973
|
|
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)
|
rs3755955
|
|
NM_000203.5(IDUA):c.590-8C>T
|
rs6848974
|
|
NM_000208.4(INSR):c.1650G>A (p.Ala550=)
|
rs2059806
|
|
NM_000208.4(INSR):c.653-23TC[11]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-9_653-7delinsC
|
rs1568470641
|
|
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)
|
rs193922357
|
|
NM_000214.3(JAG1):c.294C>T (p.Ser98=)
|
rs79338570
|
|
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
NM_000231.3(SGCG):c.196-6del
|
rs568365779
|
|
NM_000231.3(SGCG):c.196-6dup
|
rs568365779
|
|
NM_000232.5(SGCB):c.-20del
|
rs398123261
|
|
NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup)
|
rs71245621
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
NM_000256.3(MYBPC3):c.506-12del
|
rs11570050
|
|
NM_000256.3(MYBPC3):c.530G>C (p.Arg177Pro)
|
rs201012766
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
|
rs948962
|
|
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)
|
rs86312
|
|
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)
|
rs86312
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000264.5(PTCH1):c.-24GGC[8]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)
|
rs357564
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
NM_000271.5(NPC1):c.1947+10G>A
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+6dup
|
rs1555634619
|
|
NM_000271.5(NPC1):c.1947+8_1947+11dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insC
|
rs1555634683
|
|
NM_000271.5(NPC1):c.2131-6_2131-4del
|
rs11299077
|
|
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg)
|
rs2305253
|
|
NM_000277.3(PAH):c.510-20_510-18dup
|
rs398123293
|
|
NM_000278.5(PAX2):c.43+10G>C
|
rs4472867
|
|
NM_000282.4(PCCA):c.184-17_184-16del
|
rs111778723
|
|
NM_000282.4(PCCA):c.231+47_231+50del
|
rs147037340
|
|
NM_000286.3(PEX12):c.681-3_681-2del
|
rs138568975
|
|
NM_000287.4(PEX6):c.*438TAAA[1]
|
rs144286892
|
|
NM_000287.4(PEX6):c.1234-8_1234-7dup
|
rs200121485
|
|
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro)
|
rs61752141
|
|
NM_000288.4(PEX7):c.748-5del
|
rs563675060
|
|
NM_000288.4(PEX7):c.748-5dup
|
rs563675060
|
|
NM_000303.3(PMM2):c.179-15dup
|
rs145496357
|
|
NM_000303.3(PMM2):c.447+19T>C
|
rs11074924
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
NM_000314.8(PTEN):c.254-30dup
|
rs77494260
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
NM_000321.3(RB1):c.1422-8del
|
rs747048469
|
|
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)
|
rs572454921
|
|
NM_000334.4(SCN4A):c.1845+7A>G
|
rs141021600
|
|
NM_000334.4(SCN4A):c.612-17del
|
rs542836462
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000350.3(ABCA4):c.1356+10dup
|
rs281865386
|
|
NM_000350.3(ABCA4):c.1356+5_1356+6insC
|
rs1553193877
|
|
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000368.5(TSC1):c.2626-4dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4del
|
rs5901000
|
|
NM_000370.3(TTPA):c.359-3del
|
rs398123340
|
|
NM_000381.4(MID1):c.661-22_661-21dup
|
rs375668839
|
|
NM_000381.4(MID1):c.661-7dup
|
rs375668839
|
|
NM_000381.4(MID1):c.661-8_661-7del
|
rs375668839
|
|
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)
|
rs1800520
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
|
|
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
|
|
|
NM_000388.4(CASR):c.78C>G (p.Ala26=)
|
rs77852524
|
|
NM_000390.4(CHM):c.1100G>T (p.Arg367Leu)
|
rs76191025
|
|
NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu)
|
rs8187692
|
|
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=)
|
rs3740066
|
|
NM_000393.5(COL5A2):c.1455+6G>T
|
rs113512079
|
|
NM_000404.4(GLB1):c.792+10G>T
|
rs79518579
|
|
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu)
|
rs35277491
|
|
NM_000426.4(LAMA2):c.3175-32_3175-31del
|
rs372962551
|
|
NM_000426.4(LAMA2):c.5072-6del
|
rs398123376
|
|
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)
|
rs56173620
|
|
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met)
|
rs934996
|
|
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)
|
rs13306575
|
|
NM_000436.4(OXCT1):c.480G>A (p.Gly160=)
|
rs78432029
|
|
NM_000443.4(ABCB4):c.3486+10dup
|
rs8187809
|
|
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
|
|
|
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp)
|
rs73404416
|
|
NM_000466.3(PEX1):c.2584-21dup
|
rs5885806
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000492.4(CFTR):c.1210-14_1210-13insTG
|
rs796065326
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
NM_000492.4(CFTR):c.744-33GATT[8]
|
rs1805171
|
|
NM_000493.4(COL10A1):c.*6_*7insCCC
|
rs140722
|
|
NM_000500.9(CYP21A2):c.1481G>A (p.Ser494Asn)
|
rs6473
|
|
NM_000500.9(CYP21A2):c.17TGC[4] (p.Leu10del)
|
rs61338903
|
|
NM_000500.9(CYP21A2):c.293-13C>A
|
rs6467
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
NM_000501.4(ELN):c.1269C>T (p.Val423=)
|
rs61734583
|
|
NM_000515.5(GH1):c.7A>G (p.Thr3Ala)
|
rs2001345
|
|
NM_000521.4(HEXB):c.902-48del
|
rs78084621
|
|
NM_000523.4(HOXD13):c.183_191del (p.Ala69_Ala71del)
|
rs749930395
|
|
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
|
rs1054487
|
|
NM_000531.6(OTC):c.299-8del
|
rs764551624
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-6_706-4del
|
rs60794673
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=)
|
rs184450380
|
|
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=)
|
rs1468571
|
|
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=)
|
rs1465698
|
|
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del)
|
rs3838786
|
|
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del)
|
rs550365194
|
|
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)
|
rs794726889
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_000548.5(TSC2):c.1869C>T (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000660.7(TGFB1):c.1010G>C (p.Ser337Thr)
|
rs199699574
|
|
NM_000660.7(TGFB1):c.713-8del
|
rs55659002
|
|
NM_000702.4(ATP1A2):c.13-11_13-8del
|
rs373796693
|
|
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)
|
rs11549935
|
|
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=)
|
rs11549935
|
|
NM_000709.4(BCKDHA):c.376-8A>C
|
rs398123501
|
|
NM_000709.4(BCKDHA):c.996-33dup
|
rs3217385
|
|
NM_000719.7(CACNA1C):c.5680+11C>T
|
rs66611965
|
|
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=)
|
rs2229959
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000843.4(GRM6):c.1307_1308delinsTC (p.Thr436Ile)
|
rs797044771
|
|
NM_000843.4(GRM6):c.2054C>G (p.Ser685Trp)
|
rs144657366
|
|
NM_000843.4(GRM6):c.727G>T (p.Val243Phe)
|
rs17078894
|
|
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3])
|
rs10654394
|
|
NM_001003722.2(GLE1):c.433-12_433-10del
|
rs60154464
|
|
NM_001003722.2(GLE1):c.433-13_433-10del
|
rs60154464
|
|
NM_001005242.3(PKP2):c.1557-8dup
|
rs200009796
|
|
NM_001005361.3(DNM2):c.162-7C>A
|
rs148318860
|
|
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2])
|
rs534091900
|
|
NM_001018113.3(FANCB):c.1105-26TATT[7]
|
rs398123537
|
|
NM_001018113.3(FANCB):c.1327-3del
|
rs202067682
|
|
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del)
|
rs11498192
|
|
NM_001025295.3(IFITM5):c.120G>T (p.Ser40=)
|
rs79625057
|
|
NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg)
|
rs796065322
|
|
NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del)
|
rs138020654
|
|
NM_001029883.3(PCARE):c.3673_3675dupAGC
|
|
|
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)
|
rs606231198
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=)
|
rs114303476
|
|
NM_001035.3(RYR2):c.3599-9del
|
rs11331089
|
|
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=)
|
rs114534505
|
|
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)
|
rs2797436
|
|
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp)
|
rs55797039
|
|
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del)
|
rs55745992
|
|
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT
|
rs541980281
|
|
NM_001039141.3(TRIOBP):c.6472+15_6472+16insC
|
rs149021782
|
|
NM_001039141.3(TRIOBP):c.6472+19dup
|
rs3833924
|
|
NM_001039348.3(EFEMP1):c.*6del
|
rs200536754
|
|
NM_001039770.3(TMPPE):c.-512C>G
|
rs115554377
|
|
NM_001039958.2(MESP2):c.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9])
|
rs200021459
|
|
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11])
|
rs56192595
|
|
NM_001042432.2(CLN3):c.270T>C (p.Phe90=)
|
rs145520962
|
|
NM_001042697.2(ZSWIM7):c.-86G>C
|
rs73276077
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001077365.2(POMT1):c.123-5dup
|
rs148086540
|
|
NM_001077365.2(POMT1):c.123-6_123-5dup
|
rs148086540
|
|
NM_001079802.2(FKTN):c.-45G>T
|
rs77013649
|
|
NM_001079872.2(CUL4B):c.1257-9dup
|
rs746854249
|
|
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser)
|
rs62621664
|
|
NM_001080442.3(SLC38A8):c.189+11G>T
|
rs1105355
|
|
NM_001082538.3(TCTN1):c.473-6_473-4del
|
rs10577377
|
|
NM_001083961.2(WDR62):c.1233+15dup
|
rs373693641
|
|
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=)
|
rs2301734
|
|
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=)
|
rs115453534
|
|
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del)
|
rs794727435
|
|
NM_001100.4(ACTA1):c.809-13dup
|
rs201427429
|
|
NM_001100.4(ACTA1):c.809-14G>C
|
rs6673359
|
|
NM_001100.4(ACTA1):c.809-18dup
|
rs398123565
|
|
NM_001101426.4(CRPPA):c.685-25GTT[6]
|
rs142647500
|
|
NM_001101426.4(CRPPA):c.836-19dup
|
rs3839757
|
|
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=)
|
rs201904661
|
|
NM_001110556.2(FLNA):c.7756+11=
|
rs7063300
|
|
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2])
|
rs565544512
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8])
|
rs759134767
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9])
|
rs759134767
|
|
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)
|
rs16021
|
|
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)
|
rs772989979
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
NM_001127644.2(GABRA1):c.857-9del
|
rs3214859
|
|
NM_001127671.2(LIFR):c.143-37GT[11]
|
rs10637374
|
|
NM_001127671.2(LIFR):c.143-37GT[15]
|
rs10637374
|
|
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=)
|
rs3729751
|
|
NM_001128228.3(TPRN):c.894G>A (p.Glu298=)
|
rs539737661
|
|
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)
|
rs115849497
|
|
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=)
|
rs560856407
|
|
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])
|
rs398123779
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)
|
rs61742872
|
|
NM_001130987.2(DYSF):c.460+2T>G
|
rs750356247
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val)
|
rs34999029
|
|
NM_001134363.3(RBM20):c.2303= (p.Ser768=)
|
rs1417635
|
|
NM_001142800.2(EYS):c.334G>A (p.Val112Ile)
|
rs112609906
|
|
NM_001142800.2(EYS):c.359C>T (p.Thr120Met)
|
rs12193967
|
|
NM_001142800.2(EYS):c.6079-24TC[10]
|
rs35395170
|
|
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)
|
rs536788112
|
|
NM_001145809.2(MYH14):c.192G>T (p.Gly64=)
|
rs181055215
|
|
NM_001145809.2(MYH14):c.33G>C (p.Arg11=)
|
rs8106196
|
|
NM_001145809.2(MYH14):c.660G>T (p.Ser220=)
|
rs201835322
|
|
NM_001159699.2(FHL1):c.737-9dup
|
rs374867802
|
|
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr)
|
rs547488738
|
|
NM_001164508.2(NEB):c.11077-35CT[9]
|
rs369065019
|
|
NM_001164508.2(NEB):c.11077-5del
|
rs749915004
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1])
|
rs377452683
|
|
NM_001164508.2(NEB):c.17635-3del
|
rs3214503
|
|
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)
|
rs796065338
|
|
NM_001164508.2(NEB):c.21418-6del
|
rs56026241
|
|
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=)
|
rs149510427
|
|
NM_001164508.2(NEB):c.22161+18G>C
|
rs6721666
|
|
NM_001165963.4(SCN1A):c.1171-10_1171-9del
|
rs372840031
|
|
NM_001165963.4(SCN1A):c.2416-4T>G
|
rs398123587
|
|
NM_001173467.3(SP7):c.*4G>A
|
rs115168998
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001177316.2(SLC34A3):c.*14A>C
|
rs28591989
|
|
NM_001184.4(ATR):c.4153-21dup
|
rs112116713
|
|
NM_001184.4(ATR):c.5739-14_5739-9del
|
rs72272981
|
|
NM_001195248.2(APTX):c.484-25_484-4del
|
rs778542759
|
|
NM_001195248.2(APTX):c.484-25_484-5del
|
rs200922655
|
|
NM_001195248.2(APTX):c.484-3del
|
rs373304582
|
|
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7])
|
rs200896335
|
|
NM_001244008.2(KIF1A):c.2721GGA[10] (p.Glu917del)
|
rs10594016
|
|
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=)
|
rs73102625
|
|
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro)
|
rs138944426
|
|
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys)
|
rs3784587
|
|
NM_001256789.3(CACNA1F):c.2391GGA[8] (p.Glu814dup)
|
rs112450928
|
|
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser)
|
rs35212576
|
|
NM_001256789.3(CACNA1F):c.5017G>T (p.Gly1673Trp)
|
rs139409733
|
|
NM_001267550.2(TTN):c.100766-11_100766-10del
|
rs749872538
|
|
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr)
|
rs552951988
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=)
|
rs201766927
|
|
NM_001267550.2(TTN):c.25626G>A (p.Gln8542=)
|
rs2562832
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[10]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[5]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[7]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[8]
|
rs71393436
|
|
NM_001267550.2(TTN):c.30683-17dup
|
rs368277751
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=)
|
rs147418835
|
|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
|
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1])
|
rs139512154
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)
|
rs74580375
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met)
|
rs56372592
|
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
|
NM_001267550.2(TTN):c.8902+14_8902+16delinsA
|
rs786200994
|
|
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)
|
rs11887722
|
|
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=)
|
rs11897366
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu)
|
rs398123604
|
|
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA
|
rs57952953
|
|
NM_001277313.2(FMN1):c.4030_4032del (p.Lys1344del)
|
rs145013933
|
|
NM_001278182.2(EOMES):c.358_359insGCGCCG (p.Ala119_Ala120insGlyAla)
|
rs1553745484
|
|
NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs)
|
rs369839371
|
|
NM_001289.6(CLIC2):c.*19=
|
rs559165
|
|
NM_001289104.2(PRKCSH):c.79+10_79+12del
|
rs143936796
|
|
NM_001289104.2(PRKCSH):c.939GGA[8] (p.Glu324_Glu325del)
|
rs3217229
|
|
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del)
|
rs3217229
|
|
NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys)
|
rs2230018
|
|
NM_001291415.2(KDM6A):c.2859-5del
|
rs10605935
|
|
NM_001291415.2(KDM6A):c.2859-7_2859-5del
|
rs10605935
|
|
NM_001291415.2(KDM6A):c.3893-6del
|
rs748438075
|
|
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup)
|
rs797044622
|
|
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del)
|
rs10590816
|
|
NM_001291867.2(NHS):c.566-10dup
|
rs5901624
|
|
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup)
|
rs141566950
|
|
NM_001297.5(CNGB1):c.2664C>A (p.Ala888=)
|
rs413562
|
|
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=)
|
rs413562
|
|
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637
|
|
NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg)
|
rs61730011
|
|
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr)
|
rs2032582
|
|
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala)
|
rs2032582
|
|
NM_001349338.3(FOXP1):c.1146+10_1146+12del
|
rs199543140
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)
|
rs146867923
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
NM_001360016.2(G6PD):c.1311= (p.Tyr437=)
|
rs2230037
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
NM_001365536.1(SCN9A):c.1975-3del
|
rs35888674
|
|
NM_001365536.1(SCN9A):c.1975-3dup
|
rs35888674
|
|
NM_001365536.1(SCN9A):c.4399-10_4399-7del
|
rs77944059
|
|
NM_001365951.3(KIF1B):c.2043-9dup
|
rs58344165
|
|
NM_001366722.1(GRIP1):c.1355-10_1355-8del
|
rs148083271
|
|
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser)
|
rs56236932
|
|
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro)
|
rs11648572
|
|
NM_001367721.1(CASK):c.1504-6dup
|
rs749321162
|
|
NM_001368397.1(FRMPD4):c.42-10del
|
rs111618469
|
|
NM_001368397.1(FRMPD4):c.42-10dup
|
rs111618469
|
|
NM_001369268.1(ACAN):c.4523A>C (p.Glu1508Ala)
|
rs2882676
|
|
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)
|
rs904582
|
|
NM_001371596.2(MFSD8):c.1351-9C>A
|
rs75039907
|
|
NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu)
|
rs151179617
|
|
NM_001377.3(DYNC2H1):c.3574-9_3574-8del
|
rs5794210
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001379081.2(FREM1):c.5335-11dup
|
rs140882884
|
|
NM_001379110.1(SLC9A6):c.*5_*8delinsTT
|
rs797044655
|
|
NM_001379110.1(SLC9A6):c.448-6del
|
rs375038684
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)
|
rs561144747
|
|
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del)
|
rs142960762
|
|
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg)
|
rs7244681
|
|
NM_001384732.1(CPLANE1):c.4190-10_4190-9del
|
rs111508546
|
|
NM_001384732.1(CPLANE1):c.8633-3del
|
rs34646696
|
|
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala)
|
rs3737084
|
|
NM_001429.4(EP300):c.*10GTA[1]
|
rs35508493
|
|
NM_001429.4(EP300):c.3030C>G (p.Thr1010=)
|
rs148414681
|
|
NM_001429.4(EP300):c.3143-4del
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-4dup
|
rs757931697
|
|
NM_001429.4(EP300):c.3354C>T (p.Val1118=)
|
rs11704815
|
|
NM_001429.4(EP300):c.730-18_730-9del
|
rs61120041
|
|
NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup)
|
rs76840944
|
|
NM_001453.3(FOXC1):c.1142_1144dup (p.Ala381dup)
|
rs796065323
|
|
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup)
|
rs398123612
|
|
NM_001458.5(FLNC):c.4737+9_4737+10del
|
rs794727437
|
|
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg)
|
rs193159707
|
|
NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup)
|
rs571387097
|
|
NM_001701.4(BAAT):c.602G>A (p.Arg201His)
|
rs41281027
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)
|
rs41272029
|
|
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)
|
rs3742207
|
|
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG
|
rs1556425767
|
|
NM_001848.3(COL6A1):c.1002+44_1002+82del
|
rs72435610
|
|
NM_001848.3(COL6A1):c.1002+45T>C
|
rs368643049
|
|
NM_001848.3(COL6A1):c.1002+50C>A
|
rs11702079
|
|
NM_001848.3(COL6A1):c.1002+50C>T
|
rs11702079
|
|
NM_001848.3(COL6A1):c.1120-12G>A
|
rs115107397
|
|
NM_001848.3(COL6A1):c.1461+41dup
|
rs3216137
|
|
NM_001848.3(COL6A1):c.1524+19G>C
|
rs2276256
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
NM_001848.3(COL6A1):c.1822+45C>G
|
rs7276098
|
|
NM_001848.3(COL6A1):c.1822+45C>T
|
rs7276098
|
|
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)
|
rs144671871
|
|
NM_001848.3(COL6A1):c.428+39C>G
|
rs148766287
|
|
NM_001848.3(COL6A1):c.429-19G>A
|
rs741956
|
|
NM_001848.3(COL6A1):c.588+19dup
|
rs111710378
|
|
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)
|
rs61735827
|
|
NM_001849.4(COL6A2):c.1572+3G>A
|
rs372414400
|
|
NM_001849.4(COL6A2):c.1672-24C>G
|
rs3746995
|
|
NM_001849.4(COL6A2):c.1816+18del
|
rs150275851
|
|
NM_001849.4(COL6A2):c.1817-3dup
|
rs149954350
|
|
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn)
|
rs141021828
|
|
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=)
|
rs548194162
|
|
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=)
|
rs9346373
|
|
NM_001851.6(COL9A1):c.2034+19T>C
|
rs13202029
|
|
NM_001852.4(COL9A2):c.1604-26CTCC[4]
|
rs3831927
|
|
NM_001853.4(COL9A3):c.685-4G>T
|
rs57739618
|
|
NM_001853.4(COL9A3):c.93CGGCCCCCC[1] (p.33PPG[2])
|
rs544133282
|
|
NM_001854.4(COL11A1):c.1792-39ATG[9]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.2143-10dup
|
rs747240373
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-7_652-6del
|
rs36076089
|
|
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
|
rs386654705
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser)
|
rs1047883
|
|
NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser)
|
rs386654705
|
|
NM_001876.4(CPT1A):c.556-12del
|
rs113037606
|
|
NM_001918.5(DBT):c.1210-10del
|
rs398123658
|
|
NM_001918.5(DBT):c.1210-4del
|
rs201117345
|
|
NM_001918.5(DBT):c.1282-14_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.251+19dup
|
rs201469612
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
NM_001943.5(DSG2):c.877A>G (p.Ile293Val)
|
rs2230234
|
|
NM_002024.6(FMR1):c.348T>C (p.Asn116=)
|
rs782717020
|
|
NM_002024.6(FMR1):c.420-11dup
|
rs782218323
|
|
NM_002206.3(ITGA7):c.1410-3del
|
rs773251917
|
|
NM_002206.3(ITGA7):c.671-5C>A
|
rs180841797
|
|
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn)
|
rs1805094
|
|
NM_002335.4(LRP5):c.1392C>T (p.Ile464=)
|
rs569443429
|
|
NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup)
|
rs72555376
|
|
NM_002335.4(LRP5):c.4458G>T (p.Ser1486=)
|
rs75571306
|
|
NM_002435.3(MPI):c.670+9A>G
|
rs7495739
|
|
NM_002471.4(MYH6):c.3979-8C>T
|
rs555976716
|
|
NM_002473.6(MYH9):c.5275-10del
|
rs552643559
|
|
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=)
|
rs149529195
|
|
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.159A>G (p.Gln53=)
|
rs587781118
|
|
NM_002693.3(POLG):c.3700C>A (p.Arg1234=)
|
rs144346886
|
|
NM_002693.3(POLG):c.856-17CTC[4]
|
rs200056162
|
|
NM_002755.4(MAP2K1):c.694-12TC[4]
|
rs113913469
|
|
NM_002863.5(PYGL):c.*11del
|
rs3216001
|
|
NM_002863.5(PYGL):c.1828-2del
|
rs11356035
|
|
NM_002900.3(RBP3):c.837G>A (p.Thr279=)
|
rs2376635
|
|
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)
|
rs113614842
|
|
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup)
|
rs1555475414
|
|
NM_003019.5(SFTPD):c.199+9G>A
|
rs6413522
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003060.4(SLC22A5):c.652+6=
|
rs4551059
|
|
NM_003238.6(TGFB2):c.933-8_933-6del
|
rs11285412
|
|
NM_003289.4(TPM2):c.*7C>T
|
rs79882576
|
|
NM_003289.4(TPM2):c.300C>T (p.Asp100=)
|
rs532190742
|
|
NM_003289.4(TPM2):c.564-19dup
|
rs3215700
|
|
NM_003289.4(TPM2):c.773-3dup
|
rs35401252
|
|
NM_003289.4(TPM2):c.773-4_773-3dup
|
rs35401252
|
|
NM_003322.6(TULP1):c.371_394del (p.Asp124_Glu131del)
|
rs281865169
|
|
NM_003361.4(UMOD):c.1372G>T (p.Val458Leu)
|
rs55772253
|
|
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=)
|
rs141800038
|
|
NM_003361.4(UMOD):c.840C>T (p.Pro280=)
|
rs78691203
|
|
NM_003383.5(VLDLR):c.-42GGC[5]
|
rs71329437
|
|
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup)
|
rs398123707
|
|
NM_003482.4(KMT2D):c.11723AGCAAC[1] (p.Gln3910_Gln3911del)
|
rs398123709
|
|
NM_003482.4(KMT2D):c.13671+10dup
|
rs147210845
|
|
NM_003482.4(KMT2D):c.16412+16del
|
rs34546217
|
|
NM_003482.4(KMT2D):c.2088_2114del (p.Thr698_Pro706del)
|
rs780334086
|
|
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1])
|
rs587778449
|
|
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del)
|
rs375538882
|
|
NM_003482.4(KMT2D):c.2798-7del
|
rs112620957
|
|
NM_003482.4(KMT2D):c.4021-15CT[2]
|
rs55776244
|
|
NM_003482.4(KMT2D):c.8047-7dup
|
rs200754433
|
|
NM_003611.3(OFD1):c.2052C>G (p.Ser684=)
|
rs61742891
|
|
NM_003722.5(TP63):c.192-9_192-8del
|
rs794727498
|
|
NM_003742.4(ABCB11):c.399C>T (p.Asn133=)
|
rs537575091
|
|
NM_003742.4(ABCB11):c.957A>G (p.Gly319=)
|
rs7563233
|
|
NM_004006.3(DMD):c.-114dup
|
rs72470542
|
|
NM_004006.3(DMD):c.1869C>T (p.Leu623=)
|
rs1800267
|
|
NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr)
|
rs398123879
|
|
NM_004006.3(DMD):c.923C>T (p.Thr308Ile)
|
rs145064612
|
|
NM_004006.3(DMD):c.94-9dup
|
rs3834997
|
|
NM_004183.4(BEST1):c.153-22CCACCC[2]
|
rs398124110
|
|
NM_004183.4(BEST1):c.715-18TCC[8]
|
rs1805182
|
|
NM_004187.5(KDM5C):c.2517-9_2517-7dup
|
rs398124111
|
|
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)
|
rs34642881
|
|
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)
|
rs35434411
|
|
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)
|
rs139438727
|
|
NM_004287.5(GOSR2):c.-12G>C
|
rs183199
|
|
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)
|
rs12944167
|
|
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del)
|
rs138827116
|
|
NM_004316.4(ASCL1):c.151CAG[13] (p.Gln62_Ala63insGln)
|
rs3832799
|
|
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln)
|
rs3832799
|
|
NM_004320.6(ATP2A1):c.1614G>A (p.Thr538=)
|
rs12596913
|
|
NM_004333.6(BRAF):c.1992+16G>C
|
rs3789806
|
|
NM_004333.6(BRAF):c.2128-5del
|
rs373442098
|
|
NM_004333.6(BRAF):c.2128-5dup
|
rs373442098
|
|
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn)
|
rs35914491
|
|
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)
|
rs77181645
|
|
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=)
|
rs2646260
|
|
NM_004369.4(COL6A3):c.6063+13dup
|
rs11385011
|
|
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.8465-7del
|
rs111494366
|
|
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His)
|
rs36104025
|
|
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del)
|
rs35879189
|
|
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del)
|
rs755265819
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.3370-5_3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.4729-14G>C
|
rs130008
|
|
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del)
|
rs750150018
|
|
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del)
|
rs727503890
|
|
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.753T>G (p.Thr251=)
|
rs142403441
|
|
NM_004385.5(VCAN):c.6902T>A (p.Phe2301Tyr)
|
rs160278
|
|
NM_004385.5(VCAN):c.8809G>T (p.Asp2937Tyr)
|
rs160277
|
|
NM_004473.4(FOXE1):c.505GCC[9] (p.Ala178_Ala179del)
|
rs71369530
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)
|
rs41277835
|
|
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu)
|
rs1801582
|
|
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)
|
rs11466445
|
|
NM_004615.3(TSPAN7):c.-33_-31CCG[6]
|
rs398124180
|
|
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)
|
rs34982899
|
|
NM_004715.5(CTDP1):c.1728GGA[8] (p.Glu582dup)
|
rs3833180
|
|
NM_004750.5(CRLF1):c.66GCT[3] (p.Leu26del)
|
rs34503316
|
|
NM_004820.5(CYP7B1):c.123-9del
|
rs8192895
|
|
NM_004820.5(CYP7B1):c.260-15dup
|
rs8192896
|
|
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del)
|
rs1805190
|
|
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro)
|
rs137983973
|
|
NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro)
|
rs2250889
|
|
NM_005006.7(NDUFS1):c.154-11_154-9del
|
rs568965659
|
|
NM_005045.4(RELN):c.-24GGC[4]
|
rs55656324
|
|
NM_005045.4(RELN):c.1290-3dup
|
rs146986040
|
|
NM_005045.4(RELN):c.2466-7dup
|
rs571882672
|
|
NM_005045.4(RELN):c.4937-4del
|
rs35268159
|
|
NM_005045.4(RELN):c.4937-5_4937-4dup
|
rs35268159
|
|
NM_005045.4(RELN):c.5211-7dup
|
rs34125550
|
|
NM_005045.4(RELN):c.5211-9_5211-7del
|
rs34125550
|
|
NM_005045.4(RELN):c.9370-13_9370-8del
|
rs141397961
|
|
NM_005055.5(RAPSN):c.691-11del
|
rs34729771
|
|
NM_005104.4(BRD2):c.1579-8del
|
rs2066761
|
|
NM_005120.3(MED12):c.4416-77CTCTT[11]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-77CTCTT[6]
|
rs56658066
|
|
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup)
|
rs753370104
|
|
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)
|
rs786200971
|
|
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)
|
rs727503869
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup)
|
rs3075570
|
|
NM_005445.4(SMC3):c.548-5_548-4dup
|
rs199906378
|
|
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln)
|
rs78944354
|
|
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)
|
rs11231866
|
|
NM_005609.4(PYGM):c.661-5C>G
|
rs75633423
|
|
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del)
|
rs776775669
|
|
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)
|
rs374338349
|
|
NM_005670.4(EPM2A):c.903G>C (p.Pro301=)
|
rs141361861
|
|
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp)
|
rs61758066
|
|
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)
|
rs2866413
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
NM_006005.3(WFS1):c.1725C>T (p.Ala575=)
|
rs2230719
|
|
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val)
|
rs1805070
|
|
NM_006005.3(WFS1):c.2370G>A (p.Ser790=)
|
rs150936382
|
|
NM_006017.3(PROM1):c.2374-5dup
|
rs34269395
|
|
NM_006019.4(TCIRG1):c.384C>T (p.His128=)
|
rs3808973
|
|
NM_006059.4(LAMC3):c.2438_2439delinsAG (p.Ser813Lys)
|
rs386738959
|
|
NM_006059.4(LAMC3):c.521_522delinsAG (p.Pro174Gln)
|
rs386738954
|
|
NM_006086.4(TUBB3):c.167-5C>G
|
rs147928399
|
|
NM_006204.4(PDE6C):c.252G>A (p.Leu84=)
|
rs1131978
|
|
NM_006208.3(ENPP1):c.1437+9_1437+12del
|
rs376640801
|
|
NM_006208.3(ENPP1):c.313+9del
|
rs377330284
|
|
NM_006214.4(PHYH):c.415-11dup
|
rs140309981
|
|
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala)
|
rs2233783
|
|
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr)
|
rs61739567
|
|
NM_006363.6(SEC23B):c.*9_*10del
|
rs142180765
|
|
NM_006371.5(CRTAP):c.558A>G (p.Ala186=)
|
rs35357409
|
|
NM_006516.4(SLC2A1):c.1011C>T (p.His337=)
|
rs2229681
|
|
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)
|
rs2229682
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.679+7G>T
|
rs13306757
|
|
NM_006517.5(SLC16A2):c.-114GGCAGC[2]
|
rs760787234
|
|
NM_006580.4(CLDN16):c.-45del
|
rs368234054
|
|
NM_006790.3(MYOT):c.240C>T (p.Asn80=)
|
rs529067126
|
|
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr)
|
rs114194130
|
|
NM_006883.2(SHOX):c.-432-96G>A
|
rs188327789
|
|
NM_006922.4(SCN3A):c.127_129del (p.Asn43del)
|
rs72471101
|
|
NM_006950.3(SYN1):c.1056-14_1056-8del
|
rs377385507
|
|
NM_007078.3(LDB3):c.896+6669TC[12]
|
rs71019410
|
|
NM_007126.5(VCP):c.1082-18_1082-8dup
|
rs11272867
|
|
NM_007129.5(ZIC2):c.1497C>G (p.Gly499=)
|
rs186543347
|
|
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup)
|
rs398124241
|
|
NM_007214.5(SEC63):c.340-12_340-7delinsCCC
|
rs1554237221
|
|
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC
|
rs1554237221
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007317.3(KIF22):c.267-21TTTC[2]
|
rs794727510
|
|
NM_007317.3(KIF22):c.71-12_71-10del
|
rs552303501
|
|
NM_012338.4(TSPAN12):c.469-12dup
|
rs34396874
|
|
NM_012463.4(ATP6V0A2):c.2466-4_2466-3del
|
rs370511382
|
|
NM_012470.4(TNPO3):c.2274-10del
|
rs539653012
|
|
NM_012470.4(TNPO3):c.2655G>A (p.Val885=)
|
rs548382251
|
|
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)
|
rs143790434
|
|
NM_014008.5(CCDC22):c.747= (p.Gln249=)
|
rs2294020
|
|
NM_014014.5(SNRNP200):c.732C>T (p.Leu244=)
|
rs199688602
|
|
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=)
|
rs2066513
|
|
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu)
|
rs138517537
|
|
NM_014141.6(CNTNAP2):c.3716-17TCTT[3]
|
rs142426153
|
|
NM_014208.3(DSPP):c.1063G>A (p.Val355Ile)
|
rs61738515
|
|
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)
|
rs41285549
|
|
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup)
|
rs568040559
|
|
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu)
|
rs797045938
|
|
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)
|
rs11839380
|
|
NM_014491.3(FOXP2):c.618_620dupGCA
|
|
|
NM_014491.4(FOXP2):c.1770-4dup
|
rs398005923
|
|
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del)
|
rs398124272
|
|
NM_014491.4(FOXP2):c.597+17T>G
|
rs10227893
|
|
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln)
|
rs886043802
|
|
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=)
|
rs34890427
|
|
NM_014795.4(ZEB2):c.3067+6A>T
|
rs143450927
|
|
NM_014846.4(WASHC5):c.333-19A>G
|
rs2384916
|
|
NM_014920.5(CILK1):c.1106_1117del (p.Pro369_Leu372del)
|
rs201964851
|
|
NM_014920.5(CILK1):c.534C>T (p.Ser178=)
|
rs543243399
|
|
NM_014920.5(CILK1):c.831+5del
|
rs200780900
|
|
NM_015139.3(SLC35D1):c.393-3del
|
rs199880356
|
|
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val)
|
rs61758100
|
|
NM_015295.3(SMCHD1):c.174G>C (p.Ala58=)
|
rs2430853
|
|
NM_015295.3(SMCHD1):c.4847-6del
|
rs763328487
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
NM_015629.4(PRPF31):c.1147-9=
|
rs655240
|
|
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)
|
rs112033303
|
|
NM_017534.6(MYH2):c.399T>A (p.Pro133=)
|
rs11078850
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_017780.4(CHD7):c.2377-3dup
|
rs752271550
|
|
NM_017791.3(FLVCR2):c.543G>A (p.Val181=)
|
rs2287016
|
|
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser)
|
rs527373013
|
|
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly)
|
rs3804506
|
|
NM_018297.4(NGLY1):c.493-9del
|
rs746574174
|
|
NM_018451.5(CENPJ):c.3704-14_3704-12del
|
rs34991318
|
|
NM_018451.5(CENPJ):c.61A>G (p.Met21Val)
|
rs35498994
|
|
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu)
|
rs35498994
|
|
NM_018714.3(COG1):c.1782G>A (p.Glu594=)
|
rs1037256
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)
|
rs2234253
|
|
NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg)
|
rs72650768
|
|
NM_019109.5(ALG1):c.208+16_208+19dup
|
rs35400794
|
|
NM_019109.5(ALG1):c.390+13C>A
|
rs62036244
|
|
NM_019109.5(ALG1):c.390+13C>T
|
rs62036244
|
|
NM_019892.6(INPP5E):c.812+7_812+10del
|
rs5901103
|
|
NM_020223.4(FAM20C):c.1690A>G (p.Asn564Asp)
|
rs36139924
|
|
NM_020366.4(RPGRIP1):c.907-25AAT[3]
|
rs398099213
|
|
NM_020436.5(SALL4):c.1779G>T (p.Pro593=)
|
rs147254025
|
|
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del)
|
rs557068877
|
|
NM_020549.5(CHAT):c.1381G>A (p.Val461Met)
|
rs4838544
|
|
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=)
|
rs80031446
|
|
NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup)
|
rs201922875
|
|
NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup)
|
rs143151534
|
|
NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup)
|
rs886044870
|
|
NM_020751.3(COG6):c.1693-4del
|
rs66629036
|
|
NM_020751.3(COG6):c.28G>A (p.Ala10Thr)
|
rs3812882
|
|
NM_020751.3(COG6):c.624-3dup
|
rs397756552
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[10]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[6]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[7]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[8]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[9]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[3]
|
rs757968008
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[5]
|
rs757968008
|
|
NM_021072.4(HCN1):c.192TGGCGGCGG[1] (p.Gly72_Gly74del)
|
rs56064803
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del)
|
rs747975797
|
|
NM_021625.5(TRPV4):c.1584+18G>C
|
rs10850750
|
|
NM_021625.5(TRPV4):c.396G>A (p.Pro132=)
|
rs114101785
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu)
|
rs876657422
|
|
NM_022436.3(ABCG5):c.501+11dup
|
rs200655485
|
|
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys)
|
rs4148217
|
|
NM_022437.3(ABCG8):c.1412-8dup
|
rs1553383723
|
|
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala)
|
rs6544718
|
|
NM_022455.5(NSD1):c.4498-10del
|
rs200890017
|
|
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)
|
rs61749654
|
|
NM_022458.4(LMBR1):c.528C>G (p.Ala176=)
|
rs138255184
|
|
NM_022489.4(INF2):c.1262CACCCC[2] (p.Pro425_Pro428del)
|
rs573567814
|
|
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del)
|
rs573567814
|
|
NM_024022.2(TMPRSS3):c.617-3_617-2dup
|
rs34966432
|
|
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
|
|
|
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=)
|
rs222504
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)
|
rs75254367
|
|
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg)
|
rs115033462
|
|
NM_024747.6(HPS6):c.444C>G (p.Ala148=)
|
rs533784966
|
|
NM_024753.5(TTC21B):c.2569-10dup
|
rs144600502
|
|
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=)
|
rs115504901
|
|
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn)
|
rs138283222
|
|
NM_024757.5(EHMT1):c.3180+10G>T
|
rs113676865
|
|
NM_024757.5(EHMT1):c.3375-15CT[2]
|
rs112664025
|
|
NM_024757.5(EHMT1):c.3541-13TC[3]
|
rs10667884
|
|
NM_024757.5(EHMT1):c.432C>T (p.Ala144=)
|
rs139461232
|
|
NM_024757.5(EHMT1):c.824-5_824-3del
|
rs34385417
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025243.4(SLC19A3):c.980-4del
|
rs11334205
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del)
|
rs371983878
|
|
NM_030665.4(RAI1):c.834GCA[11] (p.Gln290_Gln291del)
|
rs371983878
|
|
NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del)
|
rs371983878
|
|
NM_030665.4(RAI1):c.834GCA[14] (p.Gln291dup)
|
rs371983878
|
|
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)
|
rs371983878
|
|
NM_031220.4(PITPNM3):c.2620-34CCTGCCCTCC[2]
|
rs759362748
|
|
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe)
|
rs794728017
|
|
NM_032119.4(ADGRV1):c.11581-3dup
|
rs34894132
|
|
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)
|
rs41303350
|
|
NM_032119.4(ADGRV1):c.18311-9dup
|
rs140911567
|
|
NM_032119.4(ADGRV1):c.18433-5del
|
rs35858094
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352
|
|
NM_033056.3(PCDH15):c.4368-13_4368-10dup
|
rs530804327
|
|
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs)
|
rs545191822
|
|
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)
|
rs557936064
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln)
|
rs34740537
|
|
NM_052989.3(IFT122):c.1993-7G>C
|
rs2285354
|
|
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup)
|
rs1567672833
|
|
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del)
|
rs75967604
|
|
NM_080680.3(COL11A2):c.2431-18del
|
rs9280359
|
|
NM_080680.3(COL11A2):c.2484+13del
|
rs55730247
|
|
NM_080680.3(COL11A2):c.2899-9del
|
rs397517477
|
|
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=)
|
rs146093235
|
|
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys)
|
rs9277934
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_130837.3(OPA1):c.611-19T>C
|
rs3772393
|
|
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr)
|
rs147145506
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.5863-31TA[12]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.5863-31TA[9]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.6955-9del
|
rs757731487
|
|
NM_133642.5(LARGE1):c.1452-28C>T
|
rs76647066
|
|
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del)
|
rs376040866
|
|
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)
|
rs76572975
|
|
NM_138694.4(PKHD1):c.11665+40dup
|
rs35521028
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=)
|
rs148790132
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
NM_138694.4(PKHD1):c.733C>T (p.Leu245=)
|
rs111809699
|
|
NM_138694.4(PKHD1):c.8798-23del
|
rs756671608
|
|
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7])
|
rs750165040
|
|
NM_138735.4(NRXN1):c.49[5] (p.Gly17[5])
|
rs750165040
|
|
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)
|
rs398124510
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)
|
rs531550505
|
|
NM_144969.3(ZDHHC15):c.380-5dup
|
rs751518520
|
|
NM_145200.5(CABP4):c.192C>T (p.Pro64=)
|
rs1790765
|
|
NM_145239.3(PRRT2):c.564G>A (p.Gln188=)
|
rs545201760
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
NM_147127.5(EVC2):c.1711-11_1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del)
|
rs10578999
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_152564.5(VPS13B):c.6455-4dup
|
rs398124337
|
|
NM_152594.3(SPRED1):c.208-18G>A
|
rs398122371
|
|
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=)
|
rs139421676
|
|
NM_153212.3(GJB4):c.153del (p.Phe51fs)
|
rs139849901
|
|
NM_153240.5(NPHP3):c.3126-4del
|
rs398124547
|
|
NM_153252.5(BRWD3):c.814-16dup
|
rs751020595
|
|
NM_153426.3(PITX2):c.46+8delinsGTT
|
rs72554074
|
|
NM_153676.4(USH1C):c.225T>C (p.Asp75=)
|
rs111033279
|
|
NM_153704.6(TMEM67):c.224-5_224-3del
|
rs587779735
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
NM_172107.4(KCNQ2):c.1302-29TGTC[5]
|
rs112006486
|
|
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=)
|
rs147882199
|
|
NM_172364.5(CACNA2D4):c.1359C>T (p.Tyr453=)
|
rs573565912
|
|
NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=)
|
rs116214586
|
|
NM_172364.5(CACNA2D4):c.76G>A (p.Ala26Thr)
|
rs199570994
|
|
NM_173660.5(DOK7):c.220= (p.Leu74=)
|
rs4325970
|
|
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=)
|
rs2259136
|
|
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=)
|
rs3747334
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
NM_182760.4(SUMF1):c.*11A>T
|
rs2633851
|
|
NM_182914.3(SYNE2):c.1129-4dup
|
rs34440267
|
|
NM_182914.3(SYNE2):c.11944A>G (p.Asn3982Asp)
|
rs10137972
|
|
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln)
|
rs202240664
|
|
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=)
|
rs79037871
|
|
NM_182914.3(SYNE2):c.2647-4_2647-3dup
|
rs397726340
|
|
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=)
|
rs141380170
|
|
NM_182961.4(SYNE1):c.17203-6del
|
rs55633181
|
|
NM_182961.4(SYNE1):c.17203-6dup
|
rs55633181
|
|
NM_182961.4(SYNE1):c.17203-7_17203-6del
|
rs55633181
|
|
NM_182961.4(SYNE1):c.17203-7_17203-6dup
|
rs55633181
|
|
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)
|
rs6913579
|
|
NM_183050.4(BCKDHB):c.197-30A>C
|
rs398124569
|
|
NM_183050.4(BCKDHB):c.951+48C>T
|
rs3749896
|
|
NM_194248.3(OTOF):c.2580C>G (p.Val860=)
|
rs2272069
|
|
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser)
|
rs17005371
|
|
NM_194248.3(OTOF):c.51C>T (p.Gly17=)
|
rs142333075
|
|
NM_194318.4(B3GLCT):c.161-8dup
|
rs757600274
|
|
NM_198506.5(LRIT3):c.1184CTT[1] (p.Ser396del)
|
rs794727660
|
|
NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly)
|
rs79039619
|
|
NM_198525.3(KIF7):c.195G>C (p.Ala65=)
|
rs8179066
|
|
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)
|
rs142032413
|
|
NM_201384.3(PLEC):c.10296C>A (p.Ala3432=)
|
rs201848957
|
|
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=)
|
rs6992333
|
|
NM_201384.3(PLEC):c.2178+9C>G
|
rs114256617
|
|
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=)
|
rs201552166
|
|
NM_201384.3(PLEC):c.378T>G (p.Ala126=)
|
rs6993938
|
|
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln)
|
rs201430180
|
|
NM_201384.3(PLEC):c.5082G>A (p.Leu1694=)
|
rs182961574
|
|
NM_201384.3(PLEC):c.5922G>C (p.Gln1974His)
|
rs202190540
|
|
NM_201384.3(PLEC):c.8430C>G (p.Ile2810Met)
|
rs62641758
|
|
NM_201384.3(PLEC):c.8445T>A (p.Val2815=)
|
rs371421350
|
|
NM_201384.3(PLEC):c.8593C>G (p.Leu2865Val)
|
rs201422698
|
|
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg)
|
rs1801257
|
|
NM_203486.3(DLL3):c.546C>G (p.Ala182=)
|
rs8106337
|
|
NM_206883.2(SLC26A5):c.292+8_292+9dup
|
rs112791865
|
|
NM_206933.4(USH2A):c.11549-5del
|
rs34565443
|
|
NM_206933.4(USH2A):c.11549-5dup
|
rs34565443
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu)
|
rs41315587
|
|
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)
|
rs111033435
|
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
|
NM_206965.2(FTCD):c.1392C>G (p.Ala464=)
|
rs1047179
|
|
NM_207122.2(EXT2):c.28C>A (p.Arg10=)
|
rs4755228
|
|
NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
|
rs111589746
|
|
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly)
|
rs201351319
|
|
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly)
|
rs1555644694
|
|
NM_207361.6(FREM2):c.7520-5dup
|
rs36084034
|
|
NM_207361.6(FREM2):c.7520-6_7520-5dup
|
rs36084034
|
|
NM_213599.3(ANO5):c.2236-10dup
|
rs72105710
|
|
NM_213599.3(ANO5):c.2236-11_2236-10dup
|
rs72105710
|
|
NM_213599.3(ANO5):c.2236-12_2236-10del
|
rs72105710
|
|
NM_213599.3(ANO5):c.2236-13_2236-10del
|
rs72105710
|
|
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys)
|
rs34969327
|
|
NM_213599.3(ANO5):c.364-8del
|
rs146983312
|
|
NM_213599.3(ANO5):c.364-8dup
|
rs146983312
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|
Single allele
|
|
|