|
NM_005629.4(SLC6A8):c.-5A>G
|
rs384573
|
1.00000
|
|
NM_000208.4(INSR):c.5C>G (p.Ala2Gly)
|
rs7508518
|
0.99996
|
|
NM_001384732.1(CPLANE1):c.81+20=
|
rs6876576
|
0.99994
|
|
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg)
|
rs507329
|
0.99944
|
|
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro)
|
rs806052
|
0.99890
|
|
NM_004525.3(LRP2):c.63G>C (p.Ala21=)
|
rs1559014
|
0.99771
|
|
NM_014832.5(TBC1D4):c.723G>C (p.Gly241=)
|
rs7983969
|
0.99710
|
|
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His)
|
rs964201
|
0.99668
|
|
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro)
|
rs4145333
|
0.99572
|
|
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=)
|
rs426298
|
0.99420
|
|
NM_017757.3(ZNF407):c.33T>C (p.Asp11=)
|
rs7243081
|
0.99326
|
|
NM_020921.4(NIN):c.933G>C (p.Leu311=)
|
rs8020503
|
0.99252
|
|
NM_020921.4(NIN):c.5628+5T>C
|
rs3015485
|
0.99236
|
|
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=)
|
rs6491088
|
0.99194
|
|
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)
|
rs2515569
|
0.99154
|
|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
|
NM_001101362.3(KBTBD13):c.1200T>C (p.Gly400=)
|
rs2919360
|
0.99001
|
|
NM_005045.4(RELN):c.8843+7G>C
|
rs2711885
|
0.98938
|
|
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=)
|
rs2419565
|
0.98861
|
|
NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
|
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)
|
rs27673
|
0.98545
|
|
NM_000144.5(FXN):c.54A>G (p.Pro18=)
|
rs2481598
|
0.98511
|
|
NM_018026.4(PACS1):c.2777-3T>C
|
rs524268
|
0.98359
|
|
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_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.97933
|
|
NM_018249.6(CDK5RAP2):c.-3G>T
|
rs932975
|
0.97921
|
|
NM_018013.4(SOBP):c.2047A>G (p.Ser683Gly)
|
rs9486659
|
0.97780
|
|
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=)
|
rs4894043
|
0.97302
|
|
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met)
|
rs2438378
|
0.97114
|
|
NM_006214.4(PHYH):c.153C>T (p.Asn51=)
|
rs1747682
|
0.96869
|
|
NM_001130438.3(SPTAN1):c.2560+43G>A
|
rs4836615
|
0.96851
|
|
NM_001130438.3(SPTAN1):c.4905+41C>G
|
rs7024498
|
0.96844
|
|
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)
|
rs31304
|
0.96579
|
|
NM_001429.4(EP300):c.2053+8G>T
|
rs6002267
|
0.96326
|
|
NM_004826.4(ECEL1):c.982C>T (p.His328Tyr)
|
rs1529874
|
0.96312
|
|
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)
|
rs268674
|
0.95976
|
|
NM_002025.4(AFF2):c.3404+7A>G
|
rs5980615
|
0.95464
|
|
NM_001378615.1(CC2D2A):c.4065+28A>T
|
rs6832789
|
0.95451
|
|
NM_015386.3(COG4):c.485C>T (p.Thr162Ile)
|
rs3931036
|
0.95397
|
|
NM_007327.4(GRIN1):c.1467+8G>A
|
rs10747050
|
0.95319
|
|
NM_000426.4(LAMA2):c.381C>A (p.Thr127=)
|
rs4404787
|
0.95273
|
|
NM_016553.5(NUP62):c.1323T>C (p.Asp441=)
|
rs892028
|
0.95154
|
|
NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=)
|
rs7139095
|
0.95112
|
|
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala)
|
rs7592429
|
0.95088
|
|
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu)
|
rs1552280
|
0.94745
|
|
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)
|
rs3027238
|
0.94552
|
|
NM_001267550.2(TTN):c.4480+6C>T
|
rs719201
|
0.94227
|
|
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)
|
rs3742883
|
0.93729
|
|
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly)
|
rs2438374
|
0.93517
|
|
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=)
|
rs7213318
|
0.93459
|
|
NM_001130438.3(SPTAN1):c.6708-47G>A
|
rs7866175
|
0.93246
|
|
NM_198994.3(TGM6):c.172A>G (p.Met58Val)
|
rs2076405
|
0.93204
|
|
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
|
NM_022095.4(ZNF335):c.201+10C>G
|
rs6017715
|
0.92719
|
|
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=)
|
rs4975629
|
0.91839
|
|
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser)
|
rs968733
|
0.91637
|
|
NM_015665.6(AAAS):c.855C>T (p.Phe285=)
|
rs1546808
|
0.91562
|
|
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_182914.3(SYNE2):c.8404A>G (p.Ser2802Gly)
|
rs1890908
|
0.91221
|
|
NM_032119.4(ADGRV1):c.18625-7T>C
|
rs7726023
|
0.91136
|
|
NM_000023.4(SGCA):c.*6T>C
|
rs2696288
|
0.91073
|
|
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)
|
rs941920
|
0.90936
|
|
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=)
|
rs8096662
|
0.90817
|
|
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)
|
rs8037349
|
0.90740
|
|
NM_000540.3(RYR1):c.1077T>C (p.Ala359=)
|
rs10406027
|
0.90489
|
|
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)
|
rs626169
|
0.90284
|
|
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=)
|
rs11402
|
0.90128
|
|
NM_001927.4(DES):c.75A>G (p.Pro25=)
|
rs1318299
|
0.89847
|
|
NM_022095.4(ZNF335):c.881G>C (p.Ser294Thr)
|
rs6032606
|
0.89832
|
|
NM_015192.4(PLCB1):c.3188+8C>T
|
rs2327089
|
0.89617
|
|
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)
|
rs6501820
|
0.89534
|
|
NM_016302.4(CRBN):c.175-9T>C
|
rs1669321
|
0.89132
|
|
NM_000430.4(PAFAH1B1):c.568+27C>T
|
rs3213696
|
0.89105
|
|
NM_002739.5(PRKCG):c.72C>T (p.Ala24=)
|
rs2547362
|
0.89099
|
|
NM_001184.4(ATR):c.7875G>A (p.Gln2625=)
|
rs1802904
|
0.88595
|
|
NM_032110.3(DMRTA2):c.1188C>T (p.Ala396=)
|
rs2746610
|
0.88506
|
|
NM_000404.4(GLB1):c.34T>C (p.Leu12=)
|
rs7614776
|
0.88431
|
|
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu)
|
rs2839223
|
0.88373
|
|
NM_006031.6(PCNT):c.2556T>C (p.Ala852=)
|
rs8131546
|
0.88316
|
|
NM_001927.4(DES):c.93T>C (p.Ser31=)
|
rs2017800
|
0.88201
|
|
NM_018344.6(SLC29A3):c.383+8A>G
|
rs2243540
|
0.87959
|
|
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_001126121.2(SLC25A19):c.*2T>C
|
rs1809352
|
0.87805
|
|
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn)
|
rs2291310
|
0.87769
|
|
NM_182914.3(SYNE2):c.7183G>A (p.Ala2395Thr)
|
rs4027405
|
0.87610
|
|
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_001267550.2(TTN):c.9781G>A (p.Val3261Met)
|
rs2291311
|
0.87338
|
|
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val)
|
rs2487068
|
0.87306
|
|
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=)
|
rs2252997
|
0.87276
|
|
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
|
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=)
|
rs2919359
|
0.86820
|
|
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)
|
rs2229960
|
0.86626
|
|
NM_198576.4(AGRN):c.1178-6T>C
|
rs2799066
|
0.86601
|
|
NM_005105.4(RBM8A):c.*2586G=
|
rs1355244503
|
0.86535
|
|
NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=)
|
rs2074641
|
0.86492
|
|
NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=)
|
rs7812015
|
0.86488
|
|
NM_002472.3(MYH8):c.714T>C (p.Thr238=)
|
rs8068729
|
0.86257
|
|
NM_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.86241
|
|
NM_001961.4(EEF2):c.1632T>C (p.His544=)
|
rs36526
|
0.86134
|
|
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=)
|
rs36527
|
0.86130
|
|
NM_198525.3(KIF7):c.2658A>C (p.Ala886=)
|
rs3803531
|
0.85312
|
|
NM_001378615.1(CC2D2A):c.247+26A>G
|
rs10000250
|
0.85216
|
|
NM_004426.3(PHC1):c.918A>G (p.Arg306=)
|
rs1805777
|
0.85023
|
|
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=)
|
rs28580074
|
0.84910
|
|
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile)
|
rs2252996
|
0.84751
|
|
NM_005263.5(GFI1):c.465C>T (p.Cys155=)
|
rs11164605
|
0.84576
|
|
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=)
|
rs1084004
|
0.84205
|
|
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)
|
rs4836822
|
0.84114
|
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
|
NM_030928.4(CDT1):c.915T>C (p.His305=)
|
rs510862
|
0.83978
|
|
NM_078470.6(COX15):c.*1126T>C
|
rs2231687
|
0.83974
|
|
NM_006392.4(NOP56):c.105T>C (p.Ser35=)
|
rs2073194
|
0.83966
|
|
NM_144508.5(KNL1):c.259A>G (p.Thr87Ala)
|
rs12911738
|
0.83758
|
|
NM_017780.4(CHD7):c.2238+39G>A
|
rs4540437
|
0.83608
|
|
NM_015922.3(NSDHL):c.132T>G (p.Gly44=)
|
rs5969919
|
0.83345
|
|
NM_018249.6(CDK5RAP2):c.1093-27A>G
|
rs2095064
|
0.83235
|
|
NM_213599.3(ANO5):c.267T>C (p.Asp89=)
|
rs4312063
|
0.83210
|
|
NM_020549.5(CHAT):c.1641T>C (p.His547=)
|
rs8178992
|
0.82309
|
|
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)
|
rs2306916
|
0.82174
|
|
NM_003282.4(TNNI2):c.60T>C (p.Ser20=)
|
rs907610
|
0.82025
|
|
NM_001040142.2(SCN2A):c.1035-3T>C
|
rs2121371
|
0.82016
|
|
NM_016553.5(NUP62):c.648C>T (p.Ser216=)
|
rs999583
|
0.81792
|
|
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro)
|
rs2270669
|
0.81638
|
|
NM_001715.3(BLK):c.843T>C (p.Phe281=)
|
rs2306234
|
0.81190
|
|
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
|
rs4761829
|
0.81114
|
|
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)
|
rs6911096
|
0.80856
|
|
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=)
|
rs4880091
|
0.80826
|
|
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_198576.4(AGRN):c.3558T>C (p.Phe1186=)
|
rs10267
|
0.80748
|
|
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)
|
rs9479297
|
0.80638
|
|
NM_003863.4(DPM2):c.213T>C (p.Tyr71=)
|
rs6781
|
0.80380
|
|
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)
|
rs1412640
|
0.80210
|
|
NM_001077446.4(TSEN34):c.795= (p.Pro265=)
|
rs7595
|
0.80164
|
|
NM_006005.3(WFS1):c.997G>A (p.Val333Ile)
|
rs1801212
|
0.80149
|
|
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
|
rs711631
|
0.80127
|
|
NM_015915.5(ATL1):c.351G>A (p.Glu117=)
|
rs1060197
|
0.79691
|
|
NM_001367721.1(CASK):c.429+11419A>G
|
rs1023065
|
0.79628
|
|
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=)
|
rs1376041
|
0.79529
|
|
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu)
|
rs2075252
|
0.79497
|
|
NM_017780.4(CHD7):c.2614-45A>G
|
rs6471902
|
0.79408
|
|
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser)
|
rs7997
|
0.79357
|
|
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser)
|
rs4891392
|
0.79319
|
|
NM_144508.5(KNL1):c.1378G>T (p.Ala460Ser)
|
rs2412541
|
0.79293
|
|
NM_144508.5(KNL1):c.128G>C (p.Arg43Thr)
|
rs7177192
|
0.79283
|
|
NM_198576.4(AGRN):c.3066A>G (p.Ser1022=)
|
rs2465128
|
0.79176
|
|
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=)
|
rs31303
|
0.79100
|
|
NM_018451.5(CENPJ):c.3478-49C>T
|
rs1530876
|
0.78901
|
|
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)
|
rs7349185
|
0.78899
|
|
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)
|
rs906807
|
0.78836
|
|
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)
|
rs1044393
|
0.78554
|
|
NM_024306.5(FA2H):c.879C>T (p.Pro293=)
|
rs2301865
|
0.77852
|
|
NM_017780.4(CHD7):c.4533+46A>G
|
rs7844902
|
0.77651
|
|
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)
|
rs11553521
|
0.77624
|
|
NM_198576.4(AGRN):c.5651+5C>T
|
rs9803031
|
0.77551
|
|
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)
|
rs3826543
|
0.77529
|
|
NM_018136.5(ASPM):c.10331+8A>G
|
rs10754213
|
0.77181
|
|
NM_018136.5(ASPM):c.1922-41G>A
|
rs1332663
|
0.77179
|
|
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=)
|
rs4915337
|
0.77164
|
|
NM_025114.4(CEP290):c.2818-50G>C
|
rs2471532
|
0.76931
|
|
NM_025114.4(CEP290):c.5227-43G>A
|
rs2468245
|
0.76925
|
|
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser)
|
rs1805165
|
0.76783
|
|
NM_017780.4(CHD7):c.1665+34G>A
|
rs7836586
|
0.76770
|
|
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_017757.3(ZNF407):c.6444G>A (p.Thr2148=)
|
rs3744913
|
0.76676
|
|
NM_032119.4(ADGRV1):c.2367+8C>T
|
rs2366773
|
0.76285
|
|
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=)
|
rs1139405
|
0.75861
|
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
|
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=)
|
rs2241645
|
0.75696
|
|
NM_182914.3(SYNE2):c.7076G>A (p.Ser2359Asn)
|
rs4027404
|
0.75629
|
|
NM_006059.4(LAMC3):c.3244A>G (p.Ser1082Gly)
|
rs2275140
|
0.75621
|
|
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_000217.3(KCNA1):c.1440T>A (p.Thr480=)
|
rs4766309
|
0.75219
|
|
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=)
|
rs4098854
|
0.75204
|
|
NM_001378615.1(CC2D2A):c.1764+45T>G
|
rs1558572
|
0.75139
|
|
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)
|
rs2278008
|
0.75062
|
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
|
NM_001358921.2(COQ2):c.744T>C (p.Asp248=)
|
rs6535454
|
0.74903
|
|
NM_018136.5(ASPM):c.441+14C>T
|
rs1571964
|
0.74895
|
|
NM_018136.5(ASPM):c.849C>T (p.Ser283=)
|
rs6677082
|
0.74886
|
|
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=)
|
rs2227864
|
0.74835
|
|
NM_152783.5(D2HGDH):c.292+28T>G
|
rs62191977
|
0.74780
|
|
NM_001366110.1(PAX4):c.986A>C (p.His329Pro)
|
rs712701
|
0.74681
|
|
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val)
|
rs10882993
|
0.74523
|
|
NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile)
|
rs1062087
|
0.74406
|
|
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)
|
rs2366777
|
0.74245
|
|
NM_002617.4(PEX10):c.291A>G (p.Thr97=)
|
rs2494598
|
0.74152
|
|
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser)
|
rs1878878
|
0.74142
|
|
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)
|
rs2839110
|
0.74122
|
|
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)
|
rs2287939
|
0.73966
|
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
|
NM_020451.3(SELENON):c.1173T>C (p.Pro391=)
|
rs760597
|
0.73933
|
|
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
|
rs6432860
|
0.73885
|
|
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)
|
rs2298771
|
0.73872
|
|
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)
|
rs4916684
|
0.73682
|
|
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala)
|
rs3911730
|
0.73528
|
|
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=)
|
rs3809872
|
0.73341
|
|
NM_032119.4(ADGRV1):c.9907-35A>C
|
rs7723259
|
0.72915
|
|
NM_182914.3(SYNE2):c.9757G>C (p.Asp3253His)
|
rs8010911
|
0.72882
|
|
NM_182914.3(SYNE2):c.6851C>T (p.Ala2284Val)
|
rs4027402
|
0.72784
|
|
NM_182914.3(SYNE2):c.5906T>C (p.Met1969Thr)
|
rs4902264
|
0.72634
|
|
NM_001128164.2(ATXN1):c.927T>C (p.Ala309=)
|
rs179990
|
0.72343
|
|
NM_001130438.3(SPTAN1):c.2560+47C>T
|
rs4837284
|
0.72327
|
|
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=)
|
rs2227862
|
0.72171
|
|
NM_031448.6(C19orf12):c.324C>T (p.Thr108=)
|
rs10424582
|
0.72163
|
|
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
|
rs5219
|
0.72048
|
|
NM_000240.4(MAOA):c.891G>T (p.Arg297=)
|
rs6323
|
0.71997
|
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
|
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)
|
rs757110
|
0.71935
|
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
|
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile)
|
rs10761129
|
0.71630
|
|
NM_001130438.3(SPTAN1):c.6280-27C>T
|
rs3737308
|
0.71407
|
|
NM_018249.6(CDK5RAP2):c.5579-34G>C
|
rs2297457
|
0.71354
|
|
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)
|
rs5215
|
0.71351
|
|
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg)
|
rs13045
|
0.71334
|
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.71202
|
|
NM_182914.3(SYNE2):c.8824A>G (p.Ile2942Val)
|
rs3829767
|
0.71158
|
|
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu)
|
rs4837768
|
0.70962
|
|
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_004544.4(NDUFA10):c.105A>G (p.Lys35=)
|
rs2083411
|
0.70392
|
|
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=)
|
rs9646771
|
0.70187
|
|
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu)
|
rs10497520
|
0.69988
|
|
NM_001163809.2(WDR81):c.5451A>G (p.Thr1817=)
|
rs11549259
|
0.69948
|
|
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr)
|
rs2285477
|
0.69723
|
|
NM_024596.5(MCPH1):c.228G>T (p.Val76=)
|
rs2305022
|
0.69651
|
|
NM_020227.4(PRDM9):c.2042C>G (p.Thr681Ser)
|
rs6875787
|
0.69581
|
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
|
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=)
|
rs6741066
|
0.69341
|
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
|
NM_006013.5(RPL10):c.605= (p.Ser202=)
|
rs4909
|
0.69154
|
|
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)
|
rs190450
|
0.69111
|
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
|
NM_006031.6(PCNT):c.2610-5C>T
|
rs2839226
|
0.68609
|
|
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr)
|
rs6728818
|
0.68552
|
|
NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser)
|
rs2285745
|
0.68524
|
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
|
NM_001378615.1(CC2D2A):c.3288+41A>C
|
rs13116304
|
0.68417
|
|
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=)
|
rs6491066
|
0.68336
|
|
NM_006005.3(WFS1):c.684C>G (p.Arg228=)
|
rs1801213
|
0.68223
|
|
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
|
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_000057.4(BLM):c.3359-121_3359-120insA
|
rs11377009
|
0.67736
|
|
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=)
|
rs5926304
|
0.67668
|
|
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg)
|
rs2073376
|
0.67500
|
|
NM_006031.6(PCNT):c.7914-16C>T
|
rs2839257
|
0.67468
|
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
|
NM_006031.6(PCNT):c.720+17T>C
|
rs9982233
|
0.67221
|
|
NM_002156.5(HSPD1):c.273A>G (p.Lys91=)
|
rs8539
|
0.67099
|
|
NM_024596.5(MCPH1):c.940G>C (p.Asp314His)
|
rs930557
|
0.67053
|
|
NM_032531.4(KIRREL3):c.1995C>T (p.Gly665=)
|
rs948052
|
0.66811
|
|
NM_000553.6(WRN):c.513C>T (p.Cys171=)
|
rs1800389
|
0.66802
|
|
NM_001184.4(ATR):c.5898+25T>G
|
rs7620648
|
0.66679
|
|
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)
|
rs4674
|
0.66668
|
|
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)
|
rs284652
|
0.66509
|
|
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala)
|
rs10820900
|
0.66416
|
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
|
NM_201384.3(PLEC):c.2457+6C>T
|
rs11780911
|
0.66214
|
|
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=)
|
rs7580482
|
0.66162
|
|
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu)
|
rs1049434
|
0.66103
|
|
NM_002495.4(NDUFS4):c.12G>C (p.Val4=)
|
rs2279516
|
0.65985
|
|
NM_144599.5(NIPA1):c.441A>G (p.Thr147=)
|
rs11263683
|
0.65973
|
|
NM_001244710.2(GFPT1):c.1105+7A>G
|
rs6722492
|
0.65895
|
|
NM_018249.6(CDK5RAP2):c.5578+29C>G
|
rs4410972
|
0.65760
|
|
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_000173.7(GP1BA):c.1311A>G (p.Pro437=)
|
rs2586529
|
0.65526
|
|
NM_006392.4(NOP56):c.1035T>C (p.Thr345=)
|
rs8958
|
0.65499
|
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
|
NM_000240.4(MAOA):c.1410T>C (p.Asp470=)
|
rs1137070
|
0.65298
|
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65135
|
|
NM_001875.5(CPS1):c.2679C>G (p.Gly893=)
|
rs2287599
|
0.64925
|
|
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)
|
rs3134031
|
0.64845
|
|
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)
|
rs4407724
|
0.64816
|
|
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)
|
rs6923864
|
0.64620
|
|
NM_207346.3(TSEN54):c.285+32C>A
|
rs7218675
|
0.64612
|
|
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)
|
rs6432901
|
0.64588
|
|
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=)
|
rs914428
|
0.64398
|
|
NM_000540.3(RYR1):c.1668G>A (p.Ser556=)
|
rs2288888
|
0.64200
|
|
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_207346.3(TSEN54):c.1310C>T (p.Ala437Val)
|
rs8064529
|
0.63819
|
|
NM_006005.3(WFS1):c.1500C>T (p.Asn500=)
|
rs1801214
|
0.63787
|
|
NM_001184.4(ATR):c.1776T>A (p.Gly592=)
|
rs2227930
|
0.63717
|
|
NM_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
|
NM_001184.4(ATR):c.632T>C (p.Met211Thr)
|
rs2227928
|
0.63625
|
|
NM_006005.3(WFS1):c.461-9A>G
|
rs10010131
|
0.63169
|
|
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)
|
rs158921
|
0.63042
|
|
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=)
|
rs2229849
|
0.63028
|
|
NM_000540.3(RYR1):c.2286C>T (p.Pro762=)
|
rs3745847
|
0.62871
|
|
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)
|
rs2228524
|
0.62551
|
|
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=)
|
rs2235613
|
0.62539
|
|
NM_001843.4(CNTN1):c.1416C>T (p.Asn472=)
|
rs1056019
|
0.62528
|
|
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu)
|
rs6818847
|
0.62431
|
|
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)
|
rs303815
|
0.62374
|
|
NM_004247.4(EFTUD2):c.426+8G>A
|
rs2289677
|
0.62345
|
|
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)
|
rs2256135
|
0.62211
|
|
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln)
|
rs6415788
|
0.62075
|
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
|
NM_024753.5(TTC21B):c.601G>A (p.Val201Met)
|
rs1432273
|
0.61903
|
|
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)
|
rs7111873
|
0.61686
|
|
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)
|
rs7126210
|
0.61595
|
|
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe)
|
rs780668
|
0.61569
|
|
NM_004525.3(LRP2):c.2025C>T (p.Val675=)
|
rs830994
|
0.61350
|
|
NM_152783.5(D2HGDH):c.1307-24A>G
|
rs6756901
|
0.61160
|
|
NM_003673.4(TCAP):c.453A>C (p.Ala151=)
|
rs1053651
|
0.61044
|
|
NM_001372574.1(ATXN2):c.-91C>T
|
rs695872
|
0.61029
|
|
NM_001378778.1(MPDZ):c.4807+14A>G
|
rs2297003
|
0.61011
|
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
|
NM_001372574.1(ATXN2):c.-162C>G
|
rs695871
|
0.60874
|
|
NM_001365088.1(SLC12A6):c.3003C>T (p.Leu1001=)
|
rs4577050
|
0.60784
|
|
NM_001365088.1(SLC12A6):c.1492+45C>T
|
rs10851964
|
0.60740
|
|
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu)
|
rs4667591
|
0.60691
|
|
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_000231.3(SGCG):c.705T>C (p.Leu235=)
|
rs1800353
|
0.60006
|
|
NM_001429.4(EP300):c.3183T>A (p.Thr1061=)
|
rs20552
|
0.59984
|
|
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=)
|
rs990626
|
0.59977
|
|
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp)
|
rs2058194
|
0.59717
|
|
NM_005198.5(CHKB):c.333+10G>T
|
rs86337
|
0.59693
|
|
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)
|
rs2229589
|
0.59558
|
|
NM_032737.4(LMNB2):c.1416T>C (p.Gly472=)
|
rs11084940
|
0.59479
|
|
NM_002472.3(MYH8):c.3270C>T (p.Ile1090=)
|
rs3744552
|
0.59381
|
|
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)
|
rs901854
|
0.59379
|
|
NM_000123.4(ERCC5):c.138T>C (p.His46=)
|
rs1047768
|
0.59353
|
|
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)
|
rs1801475
|
0.59301
|
|
NM_001378030.1(CCDC78):c.754T>C (p.Trp252Arg)
|
rs2071950
|
0.59279
|
|
NM_181882.3(PRX):c.2645T>C (p.Val882Ala)
|
rs268671
|
0.59048
|
|
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala)
|
rs891398
|
0.58886
|
|
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln)
|
rs3772165
|
0.58882
|
|
NM_015080.4(NRXN2):c.531C>T (p.Gly177=)
|
rs2518907
|
0.58725
|
|
NM_024824.5(ZC3H14):c.1023-4T>G
|
rs1469602
|
0.58669
|
|
NM_002470.4(MYH3):c.2151C>A (p.Gly717=)
|
rs876657
|
0.58590
|
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
|
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
|
rs9911502
|
0.58492
|
|
NM_198576.4(AGRN):c.6057C>T (p.Asp2019=)
|
rs4275402
|
0.58285
|
|
NM_001048166.1(STIL):c.257C>T (p.Ala86Val)
|
rs3125630
|
0.58260
|
|
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg)
|
rs2275591
|
0.58246
|
|
NM_030665.4(RAI1):c.1992G>A (p.Pro664=)
|
rs8067439
|
0.58185
|
|
NM_006517.5(SLC16A2):c.1399+43T>G
|
rs5937843
|
0.57946
|
|
NM_006005.3(WFS1):c.2433G>A (p.Lys811=)
|
rs1046314
|
0.57941
|
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
|
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=)
|
rs2297995
|
0.57826
|
|
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=)
|
rs502434
|
0.57798
|
|
NM_001032382.2(PQBP1):c.180-3C>T
|
rs741932
|
0.57792
|
|
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)
|
rs9397102
|
0.57769
|
|
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=)
|
rs2285479
|
0.57510
|
|
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)
|
rs9648691
|
0.57506
|
|
NM_002470.4(MYH3):c.2532A>G (p.Ala844=)
|
rs2285469
|
0.57316
|
|
NM_002470.4(MYH3):c.2916A>G (p.Thr972=)
|
rs2285472
|
0.57294
|
|
NM_002470.4(MYH3):c.2952T>C (p.Ser984=)
|
rs2285474
|
0.57288
|
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
|
NM_181882.3(PRX):c.2655T>C (p.Pro885=)
|
rs268672
|
0.56968
|
|
NM_006059.4(LAMC3):c.219T>G (p.His73Gln)
|
rs3739512
|
0.56936
|
|
NM_001080414.4(CCDC88C):c.3966+12G>A
|
rs3742656
|
0.56935
|
|
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)
|
rs6923492
|
0.56892
|
|
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_182914.3(SYNE2):c.15556C>A (p.Leu5186Met)
|
rs10151658
|
0.56664
|
|
NM_006005.3(WFS1):c.1185C>T (p.Val395=)
|
rs1801206
|
0.56648
|
|
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_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=)
|
rs1970912
|
0.56314
|
|
NM_020921.4(NIN):c.5637G>A (p.Gln1879=)
|
rs11376
|
0.56301
|
|
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)
|
rs3735801
|
0.55959
|
|
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)
|
rs3735802
|
0.55845
|
|
NM_004268.5(MED17):c.195C>G (p.Gly65=)
|
rs7116967
|
0.55835
|
|
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)
|
rs4645434
|
0.55815
|
|
NM_001482.3(GATM):c.1252T>C (p.Leu418=)
|
rs1145086
|
0.55793
|
|
NM_152783.5(D2HGDH):c.685-9T>C
|
rs4234097
|
0.55730
|
|
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_003194.5(TBP):c.771T>C (p.Asn257=)
|
rs1042327
|
0.55570
|
|
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=)
|
rs9373491
|
0.55222
|
|
NM_004268.5(MED17):c.207G>C (p.Glu69Asp)
|
rs2848477
|
0.55147
|
|
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=)
|
rs2076603
|
0.55111
|
|
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser)
|
rs4536103
|
0.55018
|
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
|
NM_004525.3(LRP2):c.2460A>G (p.Thr820=)
|
rs2241190
|
0.54408
|
|
NM_015559.3(SETBP1):c.540+7405G>A
|
rs663651
|
0.54347
|
|
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=)
|
rs6558405
|
0.54173
|
|
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=)
|
rs7966867
|
0.54127
|
|
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_001361.5(DHODH):c.19A>C (p.Lys7Gln)
|
rs3213422
|
0.54012
|
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
|
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=)
|
rs7822511
|
0.53938
|
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
|
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=)
|
rs831043
|
0.53755
|
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
|
NM_004993.6(ATXN3):c.492C>T (p.Val164=)
|
rs16999141
|
0.53657
|
|
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr)
|
rs13119545
|
0.53595
|
|
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)
|
rs9672286
|
0.53592
|
|
NM_004409.5(DMPK):c.581+6T>C
|
rs1799894
|
0.53545
|
|
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=)
|
rs3809871
|
0.53472
|
|
NM_032119.4(ADGRV1):c.10161+26G>T
|
rs4916815
|
0.53367
|
|
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro)
|
rs7833924
|
0.53335
|
|
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=)
|
rs2292597
|
0.53313
|
|
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg)
|
rs55895668
|
0.53310
|
|
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=)
|
rs17261772
|
0.53257
|
|
NM_001083962.2(TCF4):c.789+23C>T
|
rs1788027
|
0.53241
|
|
NM_001378615.1(CC2D2A):c.1765-24A>G
|
rs1861044
|
0.52969
|
|
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)
|
rs4789164
|
0.52943
|
|
NM_020921.4(NIN):c.1128T>C (p.Val376=)
|
rs17793018
|
0.52775
|
|
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_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52364
|
|
NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=)
|
rs3734441
|
0.52321
|
|
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)
|
rs1142530
|
0.52046
|
|
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)
|
rs7918487
|
0.51842
|
|
NM_004056.6(CA8):c.327A>G (p.Glu109=)
|
rs7464181
|
0.51676
|
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
|
NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
|
NM_001415.4(EIF2S3):c.99C>T (p.His33=)
|
rs36018672
|
0.51303
|
|
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)
|
rs627441
|
0.51169
|
|
NM_001953.5(TYMP):c.972C>T (p.Ala324=)
|
rs131804
|
0.51130
|
|
NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser)
|
rs35143646
|
0.50841
|
|
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=)
|
rs3749877
|
0.50817
|
|
NM_024809.5(TCTN2):c.1099+19T>C
|
rs7137946
|
0.50815
|
|
NM_182914.3(SYNE2):c.19333+5C>T
|
rs1152590
|
0.50736
|
|
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=)
|
rs3749878
|
0.50693
|
|
NM_024809.5(TCTN2):c.891+22T>C
|
rs7302449
|
0.50676
|
|
NM_024884.3(L2HGDH):c.703+12T>C
|
rs12433038
|
0.50530
|
|
NM_004525.3(LRP2):c.3660A>G (p.Ala1220=)
|
rs831042
|
0.50520
|
|
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=)
|
rs7819099
|
0.50384
|
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
|
NM_000217.3(KCNA1):c.804G>C (p.Thr268=)
|
rs2227910
|
0.50318
|
|
NM_022464.5(SIL1):c.153A>G (p.Thr51=)
|
rs3088052
|
0.50252
|
|
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg)
|
rs8069834
|
0.50046
|
|
NM_005045.4(RELN):c.8046T>C (p.His2682=)
|
rs2229864
|
0.49951
|
|
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=)
|
rs2942
|
0.49950
|
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
|
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=)
|
rs1129768
|
0.49865
|
|
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala)
|
rs480727
|
0.49695
|
|
NM_005045.4(RELN):c.578-3T>C
|
rs607755
|
0.49658
|
|
NM_015080.4(NRXN2):c.2745C>T (p.Ile915=)
|
rs526338
|
0.49435
|
|
NM_000383.4(AIRE):c.1578T>C (p.Asp526=)
|
rs1133779
|
0.49415
|
|
NM_198576.4(AGRN):c.4161T>C (p.Thr1387=)
|
rs9442391
|
0.49370
|
|
NM_002691.4(POLD1):c.2718-12A>G
|
rs3219433
|
0.49249
|
|
NM_001715.3(BLK):c.330T>C (p.Ser110=)
|
rs3816668
|
0.49161
|
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
|
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793
|
0.48793
|
|
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_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
|
rs3759871
|
0.48431
|
|
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=)
|
rs6684
|
0.48379
|
|
NM_006059.4(LAMC3):c.1932C>T (p.Ser644=)
|
rs12349966
|
0.48282
|
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
|
NM_000047.3(ARSL):c.1692C>T (p.Asn564=)
|
rs11222
|
0.47884
|
|
NM_015386.3(COG4):c.2142G>A (p.Ser714=)
|
rs11054
|
0.47870
|
|
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
|
rs2303606
|
0.47852
|
|
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly)
|
rs2277257
|
0.47837
|
|
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=)
|
rs3742165
|
0.47759
|
|
NM_006059.4(LAMC3):c.1631A>G (p.Glu544Gly)
|
rs10901333
|
0.47711
|
|
NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=)
|
rs381309
|
0.47682
|
|
NM_001142633.3(PIK3R5):c.837C>T (p.His279=)
|
rs394811
|
0.47651
|
|
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)
|
rs1048099
|
0.47531
|
|
NM_001386140.1(MTTP):c.453T>C (p.Gly151=)
|
rs991811
|
0.47516
|
|
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)
|
rs6493068
|
0.47359
|
|
NM_014832.5(TBC1D4):c.2901C>T (p.Leu967=)
|
rs2297208
|
0.47333
|
|
NM_182914.3(SYNE2):c.17938T>C (p.Leu5980=)
|
rs2256191
|
0.47326
|
|
NM_000231.3(SGCG):c.312T>G (p.Leu104=)
|
rs1800351
|
0.47318
|
|
NM_001386140.1(MTTP):c.891C>G (p.His297Gln)
|
rs2306985
|
0.47212
|
|
NM_030928.4(CDT1):c.1587C>G (p.Leu529=)
|
rs572275
|
0.47081
|
|
NM_000217.3(KCNA1):c.684T>C (p.Cys228=)
|
rs1048500
|
0.46819
|
|
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val)
|
rs2919358
|
0.46622
|
|
NM_000207.2(INS):c.-449_-443del
|
rs1564913059
|
0.46541
|
|
NM_001848.3(COL6A1):c.-5C>G
|
rs7671
|
0.46506
|
|
NM_000352.6(ABCC8):c.579+14C>T
|
rs2301703
|
0.46493
|
|
NM_001374828.1(ARID1B):c.2248-35G>A
|
rs3734440
|
0.46405
|
|
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe)
|
rs1801195
|
0.46398
|
|
NM_000553.6(WRN):c.3138+7G>A
|
rs2737335
|
0.46283
|
|
NM_001365088.1(SLC12A6):c.271+41G>C
|
rs347836
|
0.46169
|
|
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)
|
rs3735803
|
0.45974
|
|
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_000751.3(CHRND):c.12A>G (p.Pro4=)
|
rs2245601
|
0.45730
|
|
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=)
|
rs1056875
|
0.45696
|
|
NM_024596.5(MCPH1):c.2215-19A>G
|
rs2936531
|
0.45478
|
|
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
|
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)
|
rs3747562
|
0.45408
|
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
|
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=)
|
rs1063353
|
0.45235
|
|
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=)
|
rs10966
|
0.45223
|
|
NM_001101362.3(KBTBD13):c.378G>T (p.Ala126=)
|
rs2946642
|
0.45129
|
|
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_006009.4(TUBA1A):c.453G>C (p.Ser151=)
|
rs697624
|
0.45037
|
|
NM_000352.6(ABCC8):c.4120-27T>C
|
rs739689
|
0.45032
|
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
|
NM_000553.6(WRN):c.2361G>T (p.Leu787=)
|
rs1800392
|
0.44630
|
|
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg)
|
rs2244492
|
0.44551
|
|
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_004560.4(ROR2):c.2088C>T (p.Tyr696=)
|
rs10992063
|
0.44353
|
|
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)
|
rs1050162
|
0.44262
|
|
NM_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
|
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)
|
rs1050163
|
0.44235
|
|
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_014832.5(TBC1D4):c.84C>G (p.Pro28=)
|
rs7327548
|
0.44024
|
|
NM_001048166.1(STIL):c.2615+27A>G
|
rs2742104
|
0.43900
|
|
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)
|
rs3803763
|
0.43727
|
|
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=)
|
rs1131824
|
0.43499
|
|
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)
|
rs2306331
|
0.43394
|
|
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=)
|
rs2070720
|
0.43390
|
|
NM_006005.3(WFS1):c.1832G>A (p.Arg611His)
|
rs734312
|
0.43085
|
|
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)
|
rs7157716
|
0.43030
|
|
NM_003355.3(UCP2):c.164C>T (p.Ala55Val)
|
rs660339
|
0.43008
|
|
NM_014714.4(IFT140):c.1968T>C (p.Ser656=)
|
rs8048410
|
0.42981
|
|
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=)
|
rs10747559
|
0.42978
|
|
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=)
|
rs6107027
|
0.42961
|
|
NM_024809.5(TCTN2):c.891+7G>A
|
rs7313032
|
0.42667
|
|
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=)
|
rs3782357
|
0.42594
|
|
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)
|
rs10781542
|
0.42574
|
|
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)
|
rs10870194
|
0.42571
|
|
NM_000545.8(HNF1A):c.51C>G (p.Leu17=)
|
rs1169289
|
0.42543
|
|
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)
|
rs3818717
|
0.42485
|
|
NM_004933.3(CDH15):c.1971A>G (p.Gln657=)
|
rs3815615
|
0.42410
|
|
NM_144639.3(UROC1):c.1845C>T (p.Ala615=)
|
rs1687477
|
0.42399
|
|
NM_024809.5(TCTN2):c.765-43A>T
|
rs7298831
|
0.42250
|
|
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)
|
rs3027875
|
0.42119
|
|
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)
|
rs1217401
|
0.42071
|
|
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)
|
rs3738725
|
0.42035
|
|
NM_014324.6(AMACR):c.25G>A (p.Val9Met)
|
rs3195676
|
0.42007
|
|
NM_001378778.1(MPDZ):c.3609A>G (p.Lys1203=)
|
rs10756457
|
0.41998
|
|
NM_001083961.2(WDR62):c.2147-34G>A
|
rs2301736
|
0.41985
|
|
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=)
|
rs7301328
|
0.41972
|
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
|
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=)
|
rs2758735
|
0.41846
|
|
NM_004933.3(CDH15):c.1750A>C (p.Lys584Gln)
|
rs75791347
|
0.41599
|
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
|
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)
|
rs761421
|
0.41522
|
|
NM_001080414.4(CCDC88C):c.60+8C>A
|
rs3742654
|
0.41434
|
|
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=)
|
rs2075249
|
0.41290
|
|
NM_001377405.1(ATXN7):c.2584G>A (p.Val862Met)
|
rs3774729
|
0.41208
|
|
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=)
|
rs9435659
|
0.40884
|
|
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=)
|
rs3170740
|
0.40860
|
|
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=)
|
rs9435662
|
0.40757
|
|
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)
|
rs1061305
|
0.40617
|
|
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)
|
rs1044397
|
0.40553
|
|
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)
|
rs1044396
|
0.40465
|
|
NM_006059.4(LAMC3):c.963C>T (p.Ala321=)
|
rs2275131
|
0.40359
|
|
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=)
|
rs411136
|
0.40227
|
|
NM_182914.3(SYNE2):c.15543C>T (p.Ile5181=)
|
rs11629287
|
0.40212
|
|
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=)
|
rs6638360
|
0.40138
|
|
NM_173630.4(RTTN):c.734A>G (p.Lys245Arg)
|
rs17082206
|
0.40022
|
|
NM_003072.5(SMARCA4):c.3168+31C>G
|
rs2075021
|
0.39914
|
|
NM_000383.4(AIRE):c.1197T>C (p.Ala399=)
|
rs1800521
|
0.39834
|
|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
|
NM_000553.6(WRN):c.3138+6C>T
|
rs3024239
|
0.39769
|
|
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)
|
rs1799859
|
0.39734
|
|
NM_001194998.2(CEP152):c.833-4G>A
|
rs58156069
|
0.39693
|
|
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=)
|
rs2912010
|
0.39666
|
|
NM_182476.3(COQ6):c.1216G>A (p.Val406Met)
|
rs8500
|
0.39628
|
|
NM_000337.6(SGCD):c.84T>C (p.Tyr28=)
|
rs1801193
|
0.39558
|
|
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs)
|
rs770089708
|
0.39537
|
|
NM_007254.4(PNKP):c.498+23A>T
|
rs1290649
|
0.39505
|
|
NM_006950.3(SYN1):c.510T>C (p.Asn170=)
|
rs1142636
|
0.39391
|
|
NM_015272.5(RPGRIP1L):c.2959-32G>A
|
rs7203525
|
0.39281
|
|
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=)
|
rs60992377
|
0.39132
|
|
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=)
|
rs1806191
|
0.39095
|
|
NM_144508.5(KNL1):c.3432T>C (p.Asn1144=)
|
rs11070285
|
0.39065
|
|
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=)
|
rs2241726
|
0.39054
|
|
NM_144508.5(KNL1):c.1715T>C (p.Met572Thr)
|
rs11858113
|
0.39038
|
|
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)
|
rs2276625
|
0.39011
|
|
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=)
|
rs13848
|
0.38961
|
|
NM_144508.5(KNL1):c.2583T>G (p.Thr861=)
|
rs8041534
|
0.38951
|
|
NM_144508.5(KNL1):c.2310C>T (p.Val770=)
|
rs11855334
|
0.38914
|
|
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)
|
rs3207090
|
0.38895
|
|
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=)
|
rs4433949
|
0.38748
|
|
NM_000384.3(APOB):c.7545C>T (p.Thr2515=)
|
rs693
|
0.38722
|
|
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=)
|
rs2229267
|
0.38704
|
|
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)
|
rs10941112
|
0.38660
|
|
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=)
|
rs2227283
|
0.38493
|
|
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=)
|
rs5398
|
0.38373
|
|
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_032043.3(BRIP1):c.*2090G>C
|
rs60657820
|
0.38290
|
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
|
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)
|
rs643788
|
0.38193
|
|
NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=)
|
rs2295580
|
0.38170
|
|
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=)
|
rs11083462
|
0.38131
|
|
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=)
|
rs10410239
|
0.38118
|
|
NM_015386.3(COG4):c.646C>T (p.Leu216=)
|
rs3762171
|
0.38086
|
|
NM_006059.4(LAMC3):c.4378-4A>G
|
rs4740413
|
0.38051
|
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
|
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=)
|
rs730106
|
0.37791
|
|
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro)
|
rs1051152
|
0.37778
|
|
NM_002666.5(PLIN1):c.1113T>C (p.Pro371=)
|
rs2304795
|
0.37380
|
|
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_201525.4(ADGRG1):c.1168-20C>A
|
rs2305309
|
0.37206
|
|
NM_024884.3(L2HGDH):c.1196+34C>T
|
rs12432673
|
0.37158
|
|
NM_000057.4(BLM):c.2555+7T>C
|
rs3815003
|
0.37072
|
|
NM_001927.4(DES):c.1014G>C (p.Leu338=)
|
rs12920
|
0.37027
|
|
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)
|
rs2252755
|
0.36980
|
|
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)
|
rs1131296
|
0.36920
|
|
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_001098.3(ACO2):c.670C>T (p.Leu224=)
|
rs1799932
|
0.36650
|
|
NM_006392.4(NOP56):c.1727T>C (p.Val576Ala)
|
rs5856
|
0.36540
|
|
NM_024809.5(TCTN2):c.1235-28A>G
|
rs12831081
|
0.36516
|
|
NM_006392.4(NOP56):c.1424T>C (p.Met475Thr)
|
rs6753
|
0.36469
|
|
NM_000352.6(ABCC8):c.4609-40A>G
|
rs1109591
|
0.36421
|
|
NM_022455.5(NSD1):c.1482C>T (p.Cys494=)
|
rs1363405
|
0.36334
|
|
NM_181882.3(PRX):c.2763A>G (p.Ile921Met)
|
rs268673
|
0.36279
|
|
NM_024809.5(TCTN2):c.1393+7C>T
|
rs7298440
|
0.36136
|
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
|
NM_000410.4(HFE):c.340+4T>C
|
rs2071303
|
0.35994
|
|
NM_002739.5(PRKCG):c.567T>C (p.Asn189=)
|
rs3745406
|
0.35855
|
|
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)
|
rs1748
|
0.35806
|
|
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=)
|
rs4894029
|
0.35796
|
|
NM_033337.3(CAV3):c.99C>T (p.Asn33=)
|
rs1008642
|
0.35756
|
|
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)
|
rs11649804
|
0.35747
|
|
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp)
|
rs1001238
|
0.35628
|
|
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=)
|
rs2163009
|
0.35615
|
|
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=)
|
rs1560221
|
0.35601
|
|
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val)
|
rs2042995
|
0.35566
|
|
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_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
|
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
|
rs9808377
|
0.35383
|
|
NM_198859.4(PRICKLE2):c.259-6A>G
|
rs2306380
|
0.35289
|
|
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)
|
rs10949483
|
0.35277
|
|
NM_020921.4(NIN):c.2616C>A (p.Ala872=)
|
rs2073349
|
0.35221
|
|
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=)
|
rs2229850
|
0.35164
|
|
NM_001267550.2(TTN):c.97795+6G>T
|
rs3731750
|
0.35139
|
|
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)
|
rs2340917
|
0.35127
|
|
NM_015631.6(TCTN3):c.603T>A (p.Thr201=)
|
rs10786229
|
0.35079
|
|
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile)
|
rs2042996
|
0.34979
|
|
NM_001118887.2(ANGPT2):c.735G>A (p.Gln245=)
|
rs3020221
|
0.34941
|
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
|
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)
|
rs1801318
|
0.34874
|
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
|
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=)
|
rs6750044
|
0.34586
|
|
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)
|
rs1133330
|
0.34583
|
|
NM_016553.5(NUP62):c.848G>C (p.Ser283Thr)
|
rs1062798
|
0.34519
|
|
NM_001375405.1(CEP120):c.1431-9A>T
|
rs3893854
|
0.34483
|
|
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=)
|
rs6520618
|
0.34271
|
|
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=)
|
rs2227931
|
0.34166
|
|
NM_000162.5(GCK):c.1253+8C>T
|
rs2908274
|
0.34109
|
|
NM_017755.6(NSUN2):c.97-6C>T
|
rs10076470
|
0.34106
|
|
NM_017755.6(NSUN2):c.51G>A (p.Glu17=)
|
rs10062086
|
0.33934
|
|
NM_001184.4(ATR):c.1815T>C (p.Asp605=)
|
rs2227929
|
0.33689
|
|
NM_006059.4(LAMC3):c.3114C>G (p.Leu1038=)
|
rs10901345
|
0.33677
|
|
NM_006059.4(LAMC3):c.3108G>A (p.Gly1036=)
|
rs10901344
|
0.33663
|
|
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys)
|
rs10037067
|
0.33642
|
|
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=)
|
rs2562838
|
0.33531
|
|
NM_000311.5(PRNP):c.385A>G (p.Met129Val)
|
rs1799990
|
0.33516
|
|
NM_182914.3(SYNE2):c.17202C>A (p.Leu5734=)
|
rs7161192
|
0.33500
|
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
|
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=)
|
rs9806806
|
0.33435
|
|
NM_001347702.2(SYNE1):c.1458A>G (p.Glu486=)
|
rs2747662
|
0.33426
|
|
NM_024596.5(MCPH1):c.23-26G>A
|
rs1550697
|
0.33312
|
|
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser)
|
rs2229263
|
0.33289
|
|
NM_024306.5(FA2H):c.229C>T (p.Leu77=)
|
rs929881
|
0.33281
|
|
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=)
|
rs10176588
|
0.33260
|
|
NM_006031.6(PCNT):c.8996+45C>A
|
rs2236616
|
0.33111
|
|
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_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)
|
rs1047891
|
0.33052
|
|
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=)
|
rs3735442
|
0.33029
|
|
NM_001378778.1(MPDZ):c.2754G>A (p.Ser918=)
|
rs2274856
|
0.32942
|
|
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)
|
rs1053312
|
0.32867
|
|
NM_001931.5(DLAT):c.128C>T (p.Ala43Val)
|
rs2303436
|
0.32827
|
|
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val)
|
rs843358
|
0.32719
|
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
|
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_006279.5(ST3GAL3):c.209+9925A>G
|
rs37458
|
0.32581
|
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
|
NM_001267550.2(TTN):c.2244G>A (p.Glu748=)
|
rs6715406
|
0.32532
|
|
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_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
|
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser)
|
rs2307394
|
0.32301
|
|
NM_006031.6(PCNT):c.721-7G>A
|
rs2839217
|
0.32249
|
|
NM_003072.5(SMARCA4):c.1524T>C (p.His508=)
|
rs7935
|
0.32239
|
|
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)
|
rs10891314
|
0.32172
|
|
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_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_014832.5(TBC1D4):c.2384-3C>T
|
rs2297203
|
0.31705
|
|
NM_198904.4(GABRG2):c.588C>T (p.Asn196=)
|
rs211037
|
0.31659
|
|
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=)
|
rs2229760
|
0.31596
|
|
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_001253852.3(AP4B1):c.618-13G>C
|
rs3789613
|
0.31448
|
|
NM_003383.5(VLDLR):c.82+7G>A
|
rs2219143
|
0.31376
|
|
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)
|
rs6713162
|
0.31314
|
|
NM_032119.4(ADGRV1):c.5665-23T>C
|
rs4916683
|
0.31255
|
|
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=)
|
rs16876822
|
0.31193
|
|
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser)
|
rs2366926
|
0.31179
|
|
NM_001267550.2(TTN):c.23099-3T>C
|
rs2562830
|
0.31174
|
|
NM_032119.4(ADGRV1):c.6952-10G>A
|
rs10040165
|
0.31172
|
|
NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val)
|
rs6518291
|
0.31129
|
|
NM_006765.4(TUSC3):c.309-6T>C
|
rs1035972
|
0.31124
|
|
NM_181523.3(PIK3R1):c.334+14A>C
|
rs706714
|
0.31124
|
|
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=)
|
rs706713
|
0.31073
|
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
|
NM_005881.4(BCKDK):c.615G>A (p.Thr205=)
|
rs14235
|
0.30943
|
|
NM_198576.4(AGRN):c.45G>T (p.Pro15=)
|
rs115173026
|
0.30814
|
|
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)
|
rs1054486
|
0.30800
|
|
NM_001614.5(ACTG1):c.930C>T (p.Ala310=)
|
rs1135989
|
0.30776
|
|
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=)
|
rs13079522
|
0.30736
|
|
NM_144508.5(KNL1):c.3775A>G (p.Lys1259Glu)
|
rs17747633
|
0.30695
|
|
NM_182914.3(SYNE2):c.4578-4T>A
|
rs7146588
|
0.30679
|
|
NM_139343.3(BIN1):c.698+10A>G
|
rs72481904
|
0.30545
|
|
NM_182476.3(COQ6):c.570T>C (p.His190=)
|
rs3180946
|
0.30516
|
|
NM_000545.8(HNF1A):c.1501+7G>A
|
rs2464195
|
0.30441
|
|
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His)
|
rs17655
|
0.30419
|
|
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile)
|
rs3762271
|
0.30411
|
|
NM_018136.5(ASPM):c.8988-42G>A
|
rs41304071
|
0.30406
|
|
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=)
|
rs2878749
|
0.30404
|
|
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)
|
rs10170273
|
0.30371
|
|
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly)
|
rs41310927
|
0.30288
|
|
NM_004525.3(LRP2):c.639C>T (p.Asp213=)
|
rs2229266
|
0.30270
|
|
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=)
|
rs41310925
|
0.30222
|
|
NM_014714.4(IFT140):c.2253T>C (p.Pro751=)
|
rs2076436
|
0.30184
|
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
|
NM_004393.6(DAG1):c.2256C>T (p.His752=)
|
rs1801143
|
0.30176
|
|
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=)
|
rs35916068
|
0.30160
|
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920
|
0.30148
|
|
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)
|
rs16869042
|
0.30112
|
|
NM_000925.4(PDHB):c.438G>A (p.Gly146=)
|
rs1126551
|
0.30058
|
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
|
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_201384.3(PLEC):c.5928G>A (p.Ala1976=)
|
rs1140522
|
0.29794
|
|
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=)
|
rs6984820
|
0.29792
|
|
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)
|
rs2252748
|
0.29787
|
|
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=)
|
rs2562839
|
0.29759
|
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
|
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg)
|
rs7782939
|
0.29616
|
|
NM_021956.5(GRIK2):c.2312-9C>T
|
rs2227281
|
0.29507
|
|
NM_004933.3(CDH15):c.264T>C (p.Asp88=)
|
rs59865771
|
0.29473
|
|
NM_006059.4(LAMC3):c.521C>A (p.Pro174His)
|
rs2275137
|
0.29468
|
|
NM_001321142.2(CIDEC):c.96G>T (p.Leu32=)
|
rs456168
|
0.29400
|
|
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_002465.4(MYBPC1):c.774C>T (p.Asp258=)
|
rs2293468
|
0.29320
|
|
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_201384.3(PLEC):c.4476G>A (p.Ala1492=)
|
rs55646585
|
0.29155
|
|
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val)
|
rs11136336
|
0.29153
|
|
NM_001098.3(ACO2):c.192A>C (p.Thr64=)
|
rs137831
|
0.29094
|
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
|
NM_139343.3(BIN1):c.486T>C (p.Thr162=)
|
rs1060743
|
0.29063
|
|
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)
|
rs4685076
|
0.29043
|
|
NM_005591.4(MRE11):c.403-6G>A
|
rs535801
|
0.28996
|
|
NM_006214.4(PHYH):c.636A>G (p.Thr212=)
|
rs473407
|
0.28866
|
|
NM_020921.4(NIN):c.3090A>T (p.Ser1030=)
|
rs2073348
|
0.28854
|
|
NM_006579.3(EBP):c.15G>T (p.Ala5=)
|
rs3048
|
0.28803
|
|
NM_001083961.2(WDR62):c.700-18C>T
|
rs10423651
|
0.28763
|
|
NM_000553.6(WRN):c.4083C>T (p.Ser1361=)
|
rs1801196
|
0.28751
|
|
NM_006059.4(LAMC3):c.4298C>T (p.Thr1433Met)
|
rs7024108
|
0.28739
|
|
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=)
|
rs34373805
|
0.28610
|
|
NM_001458.5(FLNC):c.3297A>G (p.Val1099=)
|
rs3734973
|
0.28603
|
|
NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=)
|
rs11650737
|
0.28596
|
|
NM_001353108.3(CEP63):c.1952C>T (p.Ser651Leu)
|
rs1127826
|
0.28596
|
|
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565
|
0.28594
|
|
NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=)
|
rs16957702
|
0.28549
|
|
NM_025000.4(DCAF17):c.150C>T (p.Val50=)
|
rs6751956
|
0.28531
|
|
NM_001493.3(GDI1):c.219T>C (p.Asn73=)
|
rs4834
|
0.28474
|
|
NM_001128164.2(ATXN1):c.1212A>G (p.Glu404=)
|
rs2075974
|
0.28385
|
|
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser)
|
rs869457
|
0.28273
|
|
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=)
|
rs7275
|
0.28266
|
|
NM_032531.4(KIRREL3):c.346A>C (p.Arg116=)
|
rs12269776
|
0.28200
|
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
|
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=)
|
rs1805164
|
0.28054
|
|
NM_012301.4(MAGI2):c.4269G>C (p.Pro1423=)
|
rs2960452
|
0.27858
|
|
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=)
|
rs2229193
|
0.27838
|
|
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27837
|
|
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys)
|
rs10062026
|
0.27574
|
|
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn)
|
rs8182086
|
0.27524
|
|
NM_144639.3(UROC1):c.1056C>T (p.Gly352=)
|
rs34025926
|
0.27430
|
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.27385
|
|
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln)
|
rs77940364
|
0.27302
|
|
NM_004993.6(ATXN3):c.634G>A (p.Val212Met)
|
rs1048755
|
0.27236
|
|
NM_001163809.2(WDR81):c.2331A>G (p.Leu777=)
|
rs7221974
|
0.27161
|
|
NM_152783.5(D2HGDH):c.490+40T>C
|
rs78147778
|
0.27008
|
|
NM_001100.4(ACTA1):c.130-5T>C
|
rs11803533
|
0.26938
|
|
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=)
|
rs191294997
|
0.26852
|
|
NM_006031.6(PCNT):c.9273+22T>C
|
rs2051190
|
0.26843
|
|
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)
|
rs2306877
|
0.26698
|
|
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=)
|
rs1027199
|
0.26612
|
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
|
NM_001940.4(ATN1):c.2430C>A (p.Arg810=)
|
rs7969685
|
0.26588
|
|
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321
|
0.26575
|
|
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=)
|
rs1805482
|
0.26553
|
|
NM_001378615.1(CC2D2A):c.3595-22C>T
|
rs4280724
|
0.26375
|
|
NM_198994.3(TGM6):c.1476G>A (p.Lys492=)
|
rs2295077
|
0.26375
|
|
NM_004247.4(EFTUD2):c.994+6C>T
|
rs11654183
|
0.26275
|
|
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_182961.4(SYNE1):c.17346+7G>A
|
rs9383985
|
0.26223
|
|
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_000545.8(HNF1A):c.1375C>T (p.Leu459=)
|
rs2259820
|
0.26141
|
|
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)
|
rs1041949
|
0.26134
|
|
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=)
|
rs8107538
|
0.26133
|
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
|
NM_016219.5(MAN1B1):c.1765-5C>A
|
rs12115325
|
0.25976
|
|
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile)
|
rs1106639
|
0.25945
|
|
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu)
|
rs10957393
|
0.25907
|
|
NM_021956.5(GRIK2):c.1095+7T>C
|
rs6922753
|
0.25808
|
|
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=)
|
rs3741622
|
0.25778
|
|
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His)
|
rs3816665
|
0.25723
|
|
NM_001194998.2(CEP152):c.3466+8G>C
|
rs2306187
|
0.25704
|
|
NM_001048166.1(STIL):c.2954A>G (p.His985Arg)
|
rs13376679
|
0.25624
|
|
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=)
|
rs6676084
|
0.25582
|
|
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=)
|
rs2646254
|
0.25503
|
|
NM_006031.6(PCNT):c.1207+34A>T
|
rs35210219
|
0.25479
|
|
NM_001163809.2(WDR81):c.4603A>G (p.Met1535Val)
|
rs3809870
|
0.25451
|
|
NM_001807.6(CEL):c.1710C>T (p.Pro570=)
|
rs488087
|
0.25447
|
|
NM_198525.3(KIF7):c.3517+6C>T
|
rs74251725
|
0.25419
|
|
NM_001129729.3(PLEKHG4):c.1574A>G (p.Asp525Gly)
|
rs8044843
|
0.25392
|
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
|
NM_002666.5(PLIN1):c.1119C>T (p.Val373=)
|
rs2304796
|
0.25348
|
|
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr)
|
rs2228171
|
0.25207
|
|
NM_004168.4(SDHA):c.619A>C (p.Arg207=)
|
rs6555055
|
0.25190
|
|
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)
|
rs13070
|
0.25187
|
|
NM_004168.4(SDHA):c.684T>C (p.Asn228=)
|
rs2115272
|
0.25174
|
|
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=)
|
rs2060198
|
0.25169
|
|
NM_004168.4(SDHA):c.309A>G (p.Ala103=)
|
rs1139424
|
0.25161
|
|
NM_004168.4(SDHA):c.1680G>A (p.Thr560=)
|
rs1139449
|
0.25156
|
|
NM_000545.8(HNF1A):c.864G>C (p.Gly288=)
|
rs56348580
|
0.25042
|
|
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=)
|
rs2294597
|
0.24864
|
|
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)
|
rs2230488
|
0.24795
|
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
|
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=)
|
rs6601
|
0.24705
|
|
NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=)
|
rs9915880
|
0.24687
|
|
NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly)
|
rs17856697
|
0.24673
|
|
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=)
|
rs2076413
|
0.24634
|
|
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys)
|
rs1047991
|
0.24628
|
|
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)
|
rs1799801
|
0.24619
|
|
NM_182914.3(SYNE2):c.19857G>T (p.Leu6619=)
|
rs35648226
|
0.24610
|
|
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu)
|
rs2070425
|
0.24579
|
|
NM_003383.5(VLDLR):c.2416+8G>T
|
rs6145
|
0.24562
|
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
|
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=)
|
rs13561
|
0.24486
|
|
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
|
NM_005188.4(CBL):c.*560_*561insAT
|
rs56722042
|
0.24273
|
|
NM_005188.4(CBL):c.*559_*560insC
|
rs3833768
|
0.24253
|
|
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707
|
0.24238
|
|
NM_198253.2(TERT):c.-245T>C
|
rs2853669
|
0.24174
|
|
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=)
|
rs2584
|
0.24125
|
|
NM_021956.5(GRIK2):c.2085+10G>A
|
rs2243355
|
0.24093
|
|
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_014687.4(RUBCN):c.2856A>G (p.Ser952=)
|
rs28562770
|
0.24029
|
|
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)
|
rs12402052
|
0.24010
|
|
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
|
rs16868972
|
0.23938
|
|
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile)
|
rs2303838
|
0.23912
|
|
NM_015087.5(SPART):c.1629A>G (p.Ala543=)
|
rs2274293
|
0.23882
|
|
NM_033337.3(CAV3):c.123T>C (p.Phe41=)
|
rs13087941
|
0.23875
|
|
NM_001163809.2(WDR81):c.2142T>C (p.Gly714=)
|
rs59643265
|
0.23864
|
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
|
NM_022089.4(ATP13A2):c.3084-3C>T
|
rs7531163
|
0.23688
|
|
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)
|
rs11121552
|
0.23676
|
|
NM_007327.4(GRIN1):c.789A>G (p.Pro263=)
|
rs6293
|
0.23665
|
|
NM_024757.5(EHMT1):c.444T>C (p.Pro148=)
|
rs3812497
|
0.23632
|
|
NM_000152.5(GAA):c.2133A>G (p.Thr711=)
|
rs1800310
|
0.23591
|
|
NM_007327.4(GRIN1):c.855G>A (p.Val285=)
|
rs1126442
|
0.23587
|
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
|
NM_173560.4(RFX6):c.1914T>C (p.Gly638=)
|
rs611349
|
0.23550
|
|
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu)
|
rs1053077
|
0.23539
|
|
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=)
|
rs1129647
|
0.23538
|
|
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=)
|
rs1806201
|
0.23527
|
|
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala)
|
rs1053079
|
0.23525
|
|
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val)
|
rs214950
|
0.23524
|
|
NM_173560.4(RFX6):c.1542T>C (p.Asn514=)
|
rs7770158
|
0.23461
|
|
NM_018486.3(HDAC8):c.159G>A (p.Gln53=)
|
rs11093377
|
0.23437
|
|
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_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
|
NM_016529.6(ATP8A2):c.144A>C (p.Gly48=)
|
rs7317185
|
0.23234
|
|
NM_005236.3(ERCC4):c.*2577C>A
|
rs56012340
|
0.23225
|
|
NM_001118887.2(ANGPT2):c.879G>A (p.Thr293=)
|
rs1961222
|
0.23224
|
|
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile)
|
rs5400
|
0.23124
|
|
NM_173560.4(RFX6):c.1383T>C (p.Thr461=)
|
rs7764347
|
0.23095
|
|
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825
|
0.22980
|
|
NM_001129729.3(PLEKHG4):c.1235C>T (p.Thr412Ile)
|
rs11860295
|
0.22968
|
|
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=)
|
rs33982662
|
0.22912
|
|
NM_001365088.1(SLC12A6):c.475C>T (p.Leu159=)
|
rs7164902
|
0.22884
|
|
NM_000340.2(SLC2A2):c.496+8A>T
|
rs5402
|
0.22868
|
|
NM_004560.4(ROR2):c.98-15G>C
|
rs7863557
|
0.22863
|
|
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)
|
rs5218
|
0.22765
|
|
NM_001291415.2(KDM6A):c.4161+14T>C
|
rs5952682
|
0.22765
|
|
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile)
|
rs3730089
|
0.22679
|
|
NM_003194.5(TBP):c.228G>A (p.Gln76=)
|
rs112083427
|
0.22669
|
|
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=)
|
rs12549048
|
0.22639
|
|
NM_001358921.2(COQ2):c.840C>T (p.Ser280=)
|
rs1129617
|
0.22636
|
|
NM_001129729.3(PLEKHG4):c.2489G>A (p.Arg830His)
|
rs3868142
|
0.22609
|
|
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=)
|
rs10861607
|
0.22605
|
|
NM_004836.7(EIF2AK3):c.1763+6A>T
|
rs6750998
|
0.22566
|
|
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile)
|
rs13706
|
0.22496
|
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22492
|
|
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_014832.5(TBC1D4):c.498+9G>A
|
rs9573565
|
0.22396
|
|
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=)
|
rs17135121
|
0.22358
|
|
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His)
|
rs1899
|
0.22292
|
|
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902
|
0.22262
|
|
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)
|
rs10240503
|
0.22240
|
|
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=)
|
rs8065251
|
0.22229
|
|
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys)
|
rs867529
|
0.22211
|
|
NM_001244008.2(KIF1A):c.3641-8C>T
|
rs56024577
|
0.22160
|
|
NM_001130438.3(SPTAN1):c.5479-41A>C
|
rs7864187
|
0.22153
|
|
NM_001330574.2(ZNF711):c.-286+5C>T
|
rs41311563
|
0.22093
|
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
|
NM_018294.6(CWF19L1):c.479G>A (p.Cys160Tyr)
|
rs2270962
|
0.21966
|
|
NM_001080414.4(CCDC88C):c.4107G>A (p.Gln1369=)
|
rs12891713
|
0.21964
|
|
NM_000352.6(ABCC8):c.2292-34T>C
|
rs1800852
|
0.21889
|
|
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=)
|
rs9912287
|
0.21861
|
|
NM_213622.4(STAMBP):c.1218+12T>C
|
rs1025424
|
0.21855
|
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
|
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)
|
rs17078605
|
0.21747
|
|
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)
|
rs2737699
|
0.21736
|
|
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=)
|
rs8077638
|
0.21643
|
|
NM_000383.4(AIRE):c.681C>T (p.Gly227=)
|
rs1055311
|
0.21613
|
|
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)
|
rs1385129
|
0.21537
|
|
NM_022041.4(GAN):c.1293C>T (p.Tyr431=)
|
rs2608555
|
0.21491
|
|
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His)
|
rs36051007
|
0.21486
|
|
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr)
|
rs12463674
|
0.21485
|
|
NM_001267550.2(TTN):c.57315T>C (p.His19105=)
|
rs35833641
|
0.21406
|
|
NM_138982.4(MAPK10):c.1111-6C>T
|
rs13103861
|
0.21264
|
|
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val)
|
rs15251
|
0.21165
|
|
NM_022095.4(ZNF335):c.1103-7G>A
|
rs3746512
|
0.20987
|
|
NM_006059.4(LAMC3):c.4231-10C>T
|
rs4740411
|
0.20977
|
|
NM_018026.4(PACS1):c.2293+6G>C
|
rs476551
|
0.20949
|
|
NM_201525.4(ADGRG1):c.1665-5C>T
|
rs2290177
|
0.20927
|
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
|
NM_006059.4(LAMC3):c.4376G>A (p.Arg1459Gln)
|
rs4740412
|
0.20674
|
|
NM_001100.4(ACTA1):c.130-10G>C
|
rs41271481
|
0.20670
|
|
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp)
|
rs9684786
|
0.20663
|
|
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=)
|
rs2289674
|
0.20662
|
|
NM_005257.6(GATA6):c.1620+7A>G
|
rs3764962
|
0.20625
|
|
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)
|
rs8179065
|
0.20556
|
|
NM_006059.4(LAMC3):c.1218G>A (p.Thr406=)
|
rs2293518
|
0.20549
|
|
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=)
|
rs12622093
|
0.20507
|
|
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)
|
rs3738815
|
0.20463
|
|
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
|
NM_001163809.2(WDR81):c.1955C>T (p.Pro652Leu)
|
rs57207396
|
0.20391
|
|
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=)
|
rs764291
|
0.20383
|
|
NM_014141.6(CNTNAP2):c.1777+10A>G
|
rs2286127
|
0.20355
|
|
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)
|
rs34577613
|
0.20341
|
|
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=)
|
rs6880570
|
0.20255
|
|
NM_139343.3(BIN1):c.858-12C>A
|
rs6720741
|
0.20254
|
|
NM_002465.4(MYBPC1):c.556+10C>G
|
rs61935677
|
0.20237
|
|
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_020921.4(NIN):c.3331C>G (p.Pro1111Ala)
|
rs2236316
|
0.20068
|
|
NM_201525.4(ADGRG1):c.918A>C (p.Gln306His)
|
rs1801255
|
0.20047
|
|
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=)
|
rs3825798
|
0.19899
|
|
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)
|
rs34046352
|
0.19892
|
|
NM_025000.4(DCAF17):c.999A>G (p.Gln333=)
|
rs3731983
|
0.19825
|
|
NM_025000.4(DCAF17):c.1267-7C>T
|
rs3731981
|
0.19769
|
|
NM_000540.3(RYR1):c.2979C>T (p.Asn993=)
|
rs2228070
|
0.19758
|
|
NM_017757.3(ZNF407):c.2915A>C (p.Asn972Thr)
|
rs948615
|
0.19733
|
|
NM_017757.3(ZNF407):c.1248T>C (p.Pro416=)
|
rs3794941
|
0.19620
|
|
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)
|
rs2228527
|
0.19565
|
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
|
NM_020921.4(NIN):c.1974T>C (p.His658=)
|
rs4901055
|
0.19347
|
|
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)
|
rs3864017
|
0.19295
|
|
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_006086.4(TUBB3):c.58-49C>T
|
rs28593634
|
0.19243
|
|
NM_000540.3(RYR1):c.4161-6T>C
|
rs55845760
|
0.19230
|
|
NM_207346.3(TSEN54):c.285+3G>A
|
rs8074291
|
0.19227
|
|
NM_207346.3(TSEN54):c.333C>G (p.Arg111=)
|
rs6501818
|
0.19222
|
|
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)
|
rs1953337
|
0.19198
|
|
NM_004525.3(LRP2):c.5100C>T (p.Ser1700=)
|
rs2302694
|
0.19156
|
|
NM_014714.4(IFT140):c.2919C>T (p.Ala973=)
|
rs2235640
|
0.19119
|
|
NM_014832.5(TBC1D4):c.3824T>C (p.Val1275Ala)
|
rs557337
|
0.19086
|
|
NM_006086.4(TUBB3):c.58-22C>T
|
rs2302897
|
0.19080
|
|
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)
|
rs2228526
|
0.19072
|
|
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
|
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met)
|
rs2305777
|
0.19038
|
|
NM_018026.4(PACS1):c.1993+8C>T
|
rs2236651
|
0.18987
|
|
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg)
|
rs35346764
|
0.18919
|
|
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=)
|
rs2501727
|
0.18906
|
|
NM_020987.5(ANK3):c.8895T>C (p.Ala2965=)
|
rs10740006
|
0.18901
|
|
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)
|
rs2228529
|
0.18890
|
|
NM_015915.5(ATL1):c.84A>G (p.Pro28=)
|
rs35014209
|
0.18809
|
|
NM_006031.6(PCNT):c.7913+9G>C
|
rs1023160
|
0.18804
|
|
NM_006031.6(PCNT):c.5322G>A (p.Glu1774=)
|
rs58559714
|
0.18798
|
|
NM_001003841.3(SLC6A19):c.754G>A (p.Val252Ile)
|
rs7732589
|
0.18781
|
|
NM_020987.5(ANK3):c.9368A>G (p.Lys3123Arg)
|
rs10821668
|
0.18742
|
|
NM_006031.6(PCNT):c.5994+38T>C
|
rs73907502
|
0.18733
|
|
NM_006031.6(PCNT):c.5994+48T>G
|
rs73379348
|
0.18721
|
|
NM_006031.6(PCNT):c.6563T>G (p.Met2188Arg)
|
rs1044998
|
0.18680
|
|
NM_006031.6(PCNT):c.7082A>G (p.Gln2361Arg)
|
rs7277175
|
0.18653
|
|
NM_018100.4(EFHC1):c.573+10A>G
|
rs9349626
|
0.18650
|
|
NM_006031.6(PCNT):c.6927A>G (p.Lys2309=)
|
rs2839246
|
0.18636
|
|
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro)
|
rs2839245
|
0.18635
|
|
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=)
|
rs60444527
|
0.18604
|
|
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr)
|
rs2839256
|
0.18603
|
|
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
|
rs11558179
|
0.18595
|
|
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro)
|
rs35978208
|
0.18595
|
|
NM_006031.6(PCNT):c.7913+40C>T
|
rs1023161
|
0.18569
|
|
NM_006031.6(PCNT):c.7494+48G>A
|
rs55937012
|
0.18558
|
|
NM_000383.4(AIRE):c.588C>T (p.Ser196=)
|
rs878081
|
0.18544
|
|
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=)
|
rs33978919
|
0.18524
|
|
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=)
|
rs6850908
|
0.18472
|
|
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=)
|
rs3816884
|
0.18399
|
|
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=)
|
rs1063125
|
0.18359
|
|
NM_005670.4(EPM2A):c.402G>A (p.Gly134=)
|
rs35230590
|
0.18342
|
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
|
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala)
|
rs7713638
|
0.18279
|
|
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_014141.6(CNTNAP2):c.3248-4A>G
|
rs3779031
|
0.18203
|
|
NM_173660.5(DOK7):c.1113A>C (p.Ser371=)
|
rs6811856
|
0.18181
|
|
NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=)
|
rs2071239
|
0.18176
|
|
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)
|
rs6962
|
0.18133
|
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
|
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=)
|
rs17852769
|
0.18089
|
|
NM_000383.4(AIRE):c.99T>C (p.Ala33=)
|
rs3746964
|
0.18036
|
|
NM_015192.4(PLCB1):c.102C>T (p.Asp34=)
|
rs16994453
|
0.18027
|
|
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser)
|
rs2073380
|
0.17969
|
|
NM_175914.5(HNF4A):c.50-5C>T
|
rs745975
|
0.17964
|
|
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val)
|
rs1105273
|
0.17904
|
|
NM_013382.7(POMT2):c.1911= (p.Leu637=)
|
rs3209079
|
0.17887
|
|
NM_015080.4(NRXN2):c.242T>A (p.Leu81Gln)
|
rs12273892
|
0.17763
|
|
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=)
|
rs2071238
|
0.17747
|
|
NM_000240.4(MAOA):c.385A>C (p.Arg129=)
|
rs1800464
|
0.17743
|
|
NM_018344.5(SLC29A3):c.-63C>T
|
rs72542481
|
0.17617
|
|
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)
|
rs2228528
|
0.17598
|
|
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys)
|
rs10076911
|
0.17594
|
|
NM_000057.4(BLM):c.3102G>A (p.Thr1034=)
|
rs2227933
|
0.17570
|
|
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile)
|
rs35813871
|
0.17564
|
|
NM_173660.5(DOK7):c.1134G>A (p.Ala378=)
|
rs6831659
|
0.17563
|
|
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met)
|
rs2306899
|
0.17541
|
|
NM_001849.4(COL6A2):c.1333-8T>C
|
rs73159701
|
0.17496
|
|
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_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)
|
rs16030
|
0.17482
|
|
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)
|
rs34592169
|
0.17471
|
|
NM_002472.3(MYH8):c.5208C>T (p.Asp1736=)
|
rs33969260
|
0.17467
|
|
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=)
|
rs1045874
|
0.17452
|
|
NM_020987.5(ANK3):c.1218T>C (p.Ile406=)
|
rs2297979
|
0.17447
|
|
NM_005045.4(RELN):c.10074A>G (p.Ala3358=)
|
rs1062831
|
0.17444
|
|
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)
|
rs3810950
|
0.17408
|
|
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro)
|
rs8075
|
0.17369
|
|
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=)
|
rs1469698
|
0.17268
|
|
NM_000431.4(MVK):c.510C>T (p.Asp170=)
|
rs2287218
|
0.17165
|
|
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg)
|
rs1138484
|
0.17151
|
|
NM_005045.4(RELN):c.7887T>C (p.Pro2629=)
|
rs56345626
|
0.17070
|
|
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu)
|
rs2296212
|
0.17040
|
|
NM_001123385.2(BCOR):c.4977-4G>T
|
rs5963725
|
0.16998
|
|
NM_018249.6(CDK5RAP2):c.1483-29T>G
|
rs2490594
|
0.16966
|
|
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=)
|
rs45437097
|
0.16963
|
|
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)
|
rs11537641
|
0.16943
|
|
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)
|
rs56342400
|
0.16783
|
|
NM_006996.3(SLC19A2):c.-4C>T
|
rs2072757
|
0.16749
|
|
NM_002156.5(HSPD1):c.69T>C (p.Thr23=)
|
rs1050347
|
0.16721
|
|
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=)
|
rs11740250
|
0.16701
|
|
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=)
|
rs1805247
|
0.16667
|
|
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_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro)
|
rs17854645
|
0.16605
|
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
|
NM_022095.4(ZNF335):c.3522A>T (p.Pro1174=)
|
rs16990951
|
0.16529
|
|
NM_004525.3(LRP2):c.5859A>G (p.Arg1953=)
|
rs11886219
|
0.16510
|
|
NM_173630.4(RTTN):c.6144A>G (p.Val2048=)
|
rs2304378
|
0.16509
|
|
NM_001267550.2(TTN):c.98098+9T>A
|
rs2288325
|
0.16490
|
|
NM_000747.3(CHRNB1):c.610+6T>C
|
rs2302765
|
0.16463
|
|
NM_001267550.2(TTN):c.104988C>T (p.Val34996=)
|
rs3829748
|
0.16457
|
|
NM_005592.4(MUSK):c.402G>A (p.Glu134=)
|
rs10980531
|
0.16445
|
|
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His)
|
rs12693166
|
0.16435
|
|
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_014687.4(RUBCN):c.237G>T (p.Thr79=)
|
rs60457064
|
0.16343
|
|
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=)
|
rs35112591
|
0.16327
|
|
NM_018136.5(ASPM):c.2174-20T>C
|
rs4915344
|
0.16253
|
|
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser)
|
rs12693164
|
0.16204
|
|
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn)
|
rs13390491
|
0.16202
|
|
NM_018136.5(ASPM):c.7605G>A (p.Val2535=)
|
rs10922162
|
0.16179
|
|
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)
|
rs1799858
|
0.16150
|
|
NM_001365088.1(SLC12A6):c.1333+20G>T
|
rs2290941
|
0.16150
|
|
NM_001365088.1(SLC12A6):c.1551G>C (p.Pro517=)
|
rs17236798
|
0.16144
|
|
NM_001365088.1(SLC12A6):c.1236G>A (p.Ser412=)
|
rs2290940
|
0.16143
|
|
NM_001365088.1(SLC12A6):c.2803-25T>C
|
rs17817806
|
0.16133
|
|
NM_000426.4(LAMA2):c.6237G>A (p.Thr2079=)
|
rs2297738
|
0.16113
|
|
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=)
|
rs13181449
|
0.16076
|
|
NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=)
|
rs20539
|
0.16047
|
|
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=)
|
rs17464525
|
0.16017
|
|
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=)
|
rs3027878
|
0.16009
|
|
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=)
|
rs2071134
|
0.15977
|
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
|
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)
|
rs506028
|
0.15920
|
|
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=)
|
rs2227906
|
0.15916
|
|
NM_001083962.2(TCF4):c.305-165C>T
|
rs17522826
|
0.15868
|
|
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala)
|
rs16866465
|
0.15861
|
|
NM_024306.5(FA2H):c.888A>G (p.Val296=)
|
rs11554621
|
0.15840
|
|
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg)
|
rs1136103
|
0.15799
|
|
NM_000257.4(MYH7):c.1128C>T (p.Asp376=)
|
rs2231126
|
0.15761
|
|
NM_001458.5(FLNC):c.7221C>T (p.Asp2407=)
|
rs3816885
|
0.15729
|
|
NM_001163809.2(WDR81):c.1716C>T (p.His572=)
|
rs80035274
|
0.15722
|
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
|
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=)
|
rs5404
|
0.15665
|
|
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=)
|
rs17554631
|
0.15645
|
|
NM_001353108.3(CEP63):c.63T>C (p.Cys21=)
|
rs9827878
|
0.15593
|
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
|
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_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_001384732.1(CPLANE1):c.4080+27C>T
|
rs78164677
|
0.15457
|
|
NM_001385161.1(MR1):c.116A>G (p.His39Arg)
|
rs2236410
|
0.15449
|
|
NM_004380.3(CREBBP):c.3837-8C>T
|
rs3025684
|
0.15427
|
|
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=)
|
rs950692
|
0.15398
|
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
|
NM_004525.3(LRP2):c.11601T>C (p.Cys3867=)
|
rs2229268
|
0.15380
|
|
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro)
|
rs28932178
|
0.15259
|
|
NM_025099.6(CTC1):c.990C>T (p.Asp330=)
|
rs74506939
|
0.15238
|
|
NM_004933.3(CDH15):c.1023G>A (p.Ser341=)
|
rs72819366
|
0.15210
|
|
NM_000231.3(SGCG):c.228T>C (p.Asp76=)
|
rs1800350
|
0.15152
|
|
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=)
|
rs3207909
|
0.15144
|
|
NM_003383.5(VLDLR):c.1187-3C>T
|
rs11789583
|
0.15129
|
|
NM_001384732.1(CPLANE1):c.5901-3T>C
|
rs10805625
|
0.15103
|
|
NM_014687.4(RUBCN):c.1188T>C (p.Thr396=)
|
rs28394098
|
0.15053
|
|
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)
|
rs28938169
|
0.15001
|
|
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=)
|
rs4953042
|
0.14931
|
|
NM_002025.4(AFF2):c.1488G>A (p.Ser496=)
|
rs12011040
|
0.14855
|
|
NM_001378778.1(MPDZ):c.1074A>G (p.Thr358=)
|
rs13297480
|
0.14798
|
|
NM_001083961.2(WDR62):c.186C>T (p.Leu62=)
|
rs11538454
|
0.14792
|
|
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=)
|
rs1129767
|
0.14787
|
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
|
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=)
|
rs2920676
|
0.14726
|
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032
|
0.14695
|
|
NM_201384.3(PLEC):c.3757-9A>G
|
rs57461687
|
0.14687
|
|
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)
|
rs1805036
|
0.14682
|
|
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)
|
rs3729830
|
0.14676
|
|
NM_017780.4(CHD7):c.6103+8C>T
|
rs3763592
|
0.14641
|
|
NM_004369.4(COL6A3):c.*7G>C
|
rs4663722
|
0.14594
|
|
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)
|
rs3817552
|
0.14585
|
|
NM_182961.4(SYNE1):c.17745C>T (p.His5915=)
|
rs12664753
|
0.14557
|
|
NM_018129.4(PNPO):c.165C>T (p.Ser55=)
|
rs11079804
|
0.14534
|
|
NM_006059.4(LAMC3):c.3507C>T (p.Thr1169=)
|
rs3818800
|
0.14515
|
|
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)
|
rs6652
|
0.14487
|
|
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=)
|
rs3822434
|
0.14485
|
|
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)
|
rs3731749
|
0.14445
|
|
NM_001374828.1(ARID1B):c.4383-7A>G
|
rs112318565
|
0.14423
|
|
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=)
|
rs11542889
|
0.14383
|
|
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
|
rs34603128
|
0.14353
|
|
NM_006031.6(PCNT):c.9394-4T>C
|
rs2839260
|
0.14350
|
|
NM_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14330
|
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
|
NM_001999.4(FBN2):c.111G>A (p.Pro37=)
|
rs55715053
|
0.14249
|
|
NM_001083961.2(WDR62):c.2271G>A (p.Leu757=)
|
rs61494900
|
0.14221
|
|
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=)
|
rs7143196
|
0.14152
|
|
NM_024757.5(EHMT1):c.3375-9A>C
|
rs73578877
|
0.14146
|
|
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser)
|
rs28661939
|
0.14124
|
|
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)
|
rs16025
|
0.14118
|
|
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser)
|
rs10445686
|
0.14088
|
|
NM_002470.4(MYH3):c.3348T>C (p.Ile1116=)
|
rs201626
|
0.14064
|
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
|
NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=)
|
rs17851502
|
0.14024
|
|
NM_001083961.2(WDR62):c.1643-10C>T
|
rs4806263
|
0.14010
|
|
NM_001184.4(ATR):c.3726-47A>G
|
rs73240314
|
0.13934
|
|
NM_001843.4(CNTN1):c.1014T>C (p.Asn338=)
|
rs935105
|
0.13920
|
|
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=)
|
rs6148
|
0.13882
|
|
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)
|
rs55834942
|
0.13864
|
|
NM_206937.2(LIG4):c.1704T>C (p.Asp568=)
|
rs1805386
|
0.13864
|
|
NM_000257.4(MYH7):c.1095G>A (p.Lys365=)
|
rs735711
|
0.13859
|
|
NM_030928.4(CDT1):c.549A>G (p.Gly183=)
|
rs1834065
|
0.13858
|
|
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_130468.4(CHST14):c.*6G>A
|
rs582736
|
0.13794
|
|
NM_006031.6(PCNT):c.6594T>C (p.Gly2198=)
|
rs57108405
|
0.13713
|
|
NM_001378615.1(CC2D2A):c.2182-24C>T
|
rs2041673
|
0.13698
|
|
NM_006031.6(PCNT):c.2415C>G (p.Ala805=)
|
rs61407822
|
0.13635
|
|
NM_001080414.4(CCDC88C):c.3083C>T (p.Ala1028Val)
|
rs1970911
|
0.13546
|
|
NM_001083961.2(WDR62):c.1470C>T (p.Asp490=)
|
rs45567532
|
0.13368
|
|
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)
|
rs16866406
|
0.13367
|
|
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_182961.4(SYNE1):c.22671C>T (p.Ile7557=)
|
rs3798756
|
0.13297
|
|
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)
|
rs3829747
|
0.13294
|
|
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=)
|
rs10070365
|
0.13267
|
|
NM_005592.4(MUSK):c.537C>T (p.Asn179=)
|
rs41279051
|
0.13243
|
|
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn)
|
rs12674488
|
0.13225
|
|
NM_003070.5(SMARCA2):c.-5G>A
|
rs10964468
|
0.13219
|
|
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys)
|
rs744426
|
0.13213
|
|
NM_006265.3(RAD21):c.1440T>C (p.Ala480=)
|
rs1050838
|
0.13137
|
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
|
NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=)
|
rs2281582
|
0.13125
|
|
NM_021023.6(CFHR3):c.786A>T (p.Pro262=)
|
rs149352569
|
0.13118
|
|
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_032110.3(DMRTA2):c.1182C>T (p.Ala394=)
|
rs368034286
|
0.13028
|
|
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly)
|
rs12900702
|
0.12962
|
|
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=)
|
rs2291795
|
0.12954
|
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
|
NM_006031.6(PCNT):c.640-38T>G
|
rs2839216
|
0.12924
|
|
NM_001378615.1(CC2D2A):c.2830-38G>T
|
rs35309200
|
0.12892
|
|
NM_001118887.2(ANGPT2):c.1104T>C (p.Tyr368=)
|
rs2916747
|
0.12886
|
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889
|
0.12866
|
|
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)
|
rs2292954
|
0.12849
|
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
|
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln)
|
rs2229032
|
0.12815
|
|
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln)
|
rs12960
|
0.12801
|
|
NM_022455.5(NSD1):c.1749G>A (p.Glu583=)
|
rs3733874
|
0.12785
|
|
NM_001128164.2(ATXN1):c.474A>G (p.Ala158=)
|
rs2072736
|
0.12678
|
|
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_000334.4(SCN4A):c.5403C>T (p.Ala1801=)
|
rs2227907
|
0.12581
|
|
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile)
|
rs2249060
|
0.12572
|
|
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)
|
rs2068096
|
0.12528
|
|
NM_001018115.3(FANCD2):c.2021+31C>T
|
rs3864015
|
0.12478
|
|
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg)
|
rs3745202
|
0.12427
|
|
NM_181882.3(PRX):c.306C>T (p.Thr102=)
|
rs744389
|
0.12409
|
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
|
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=)
|
rs71575926
|
0.12377
|
|
NM_020987.5(ANK3):c.4201-3T>C
|
rs2393595
|
0.12356
|
|
NM_006757.4(TNNT3):c.762C>T (p.Gly254=)
|
rs4727
|
0.12344
|
|
NM_004525.3(LRP2):c.7626C>G (p.Arg2542=)
|
rs13397109
|
0.12249
|
|
NM_001386140.1(MTTP):c.522T>C (p.Cys174=)
|
rs982424
|
0.12209
|
|
NM_001458.5(FLNC):c.1032C>T (p.Val344=)
|
rs2291562
|
0.12206
|
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
|
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly)
|
rs35176182
|
0.12204
|
|
NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
|
rs8802
|
0.12189
|
|
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=)
|
rs13288443
|
0.12157
|
|
NM_054012.4(ASS1):c.501C>T (p.His167=)
|
rs10901072
|
0.12154
|
|
NM_207346.3(TSEN54):c.370-19C>A
|
rs56895494
|
0.12137
|
|
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)
|
rs3822471
|
0.12117
|
|
NM_133433.4(NIPBL):c.3575-17A>G
|
rs78827246
|
0.12109
|
|
NM_005619.5(RTN2):c.96T>C (p.Ser32=)
|
rs10401270
|
0.12040
|
|
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=)
|
rs1136207
|
0.11971
|
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
|
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=)
|
rs16016
|
0.11927
|
|
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_001128164.2(ATXN1):c.633T>G (p.His211Gln)
|
rs59310777
|
0.11891
|
|
NM_001849.4(COL6A2):c.1609-10C>T
|
rs17357592
|
0.11879
|
|
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022
|
0.11855
|
|
NM_001458.5(FLNC):c.1458C>A (p.Pro486=)
|
rs2291563
|
0.11830
|
|
NM_001698.3(AUH):c.483A>C (p.Ile161=)
|
rs7874056
|
0.11827
|
|
NM_001368397.1(FRMPD4):c.1401C>G (p.Val467=)
|
rs6641078
|
0.11823
|
|
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys)
|
rs7279204
|
0.11770
|
|
NM_006031.6(PCNT):c.3465-40C>T
|
rs7279052
|
0.11767
|
|
NM_015166.4(MLC1):c.895-9C>T
|
rs11568185
|
0.11704
|
|
NM_002547.3(OPHN1):c.702+29G>A
|
rs3788859
|
0.11700
|
|
NM_182914.3(SYNE2):c.399G>C (p.Leu133=)
|
rs33976862
|
0.11557
|
|
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=)
|
rs7691
|
0.11555
|
|
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)
|
rs747122
|
0.11550
|
|
NM_017757.3(ZNF407):c.1578G>A (p.Thr526=)
|
rs7227391
|
0.11528
|
|
NM_017757.3(ZNF407):c.1534G>A (p.Gly512Arg)
|
rs7227263
|
0.11518
|
|
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=)
|
rs13158963
|
0.11513
|
|
NM_006265.3(RAD21):c.688+8G>A
|
rs2921787
|
0.11506
|
|
NM_017757.3(ZNF407):c.1263C>T (p.Leu421=)
|
rs17817969
|
0.11505
|
|
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=)
|
rs4925112
|
0.11504
|
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
|
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
|
NM_000431.4(MVK):c.155G>A (p.Ser52Asn)
|
rs7957619
|
0.11415
|
|
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_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_021074.5(NDUFV2):c.201A>T (p.Val67=)
|
rs41274300
|
0.11303
|
|
NM_015080.4(NRXN2):c.3327C>T (p.Gly1109=)
|
rs3825074
|
0.11290
|
|
NM_014324.6(AMACR):c.717G>T (p.Gln239His)
|
rs34677
|
0.11264
|
|
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser)
|
rs17082236
|
0.11250
|
|
NM_001194998.2(CEP152):c.87+26A>G
|
rs72739872
|
0.11222
|
|
NM_012301.4(MAGI2):c.2784T>C (p.Asn928=)
|
rs1009524
|
0.11193
|
|
NM_030928.4(CDT1):c.243T>C (p.Ser81=)
|
rs475667
|
0.11192
|
|
NM_138711.6(PPARG):c.1341C>T (p.His447=)
|
rs3856806
|
0.11181
|
|
NM_004268.5(MED17):c.1092G>A (p.Pro364=)
|
rs34057693
|
0.11178
|
|
NM_207111.4(RNF216):c.1170C>T (p.Asp390=)
|
rs111942365
|
0.11167
|
|
NM_005445.4(SMC3):c.970-8G>A
|
rs11195199
|
0.11151
|
|
NM_015166.4(MLC1):c.597A>G (p.Ser199=)
|
rs6010164
|
0.11147
|
|
NM_015166.4(MLC1):c.594C>T (p.Tyr198=)
|
rs6010165
|
0.11145
|
|
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val)
|
rs32209
|
0.11103
|
|
NM_001458.5(FLNC):c.720T>C (p.Ile240=)
|
rs2291560
|
0.11080
|
|
NM_001458.5(FLNC):c.795T>C (p.Gly265=)
|
rs2291561
|
0.10971
|
|
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)
|
rs2229354
|
0.10948
|
|
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)
|
rs4784320
|
0.10935
|
|
NM_015166.4(MLC1):c.978C>T (p.Cys326=)
|
rs11568186
|
0.10918
|
|
NM_015166.4(MLC1):c.996T>C (p.Ser332=)
|
rs11568187
|
0.10904
|
|
NM_198586.3(NHLRC1):c.312T>C (p.His104=)
|
rs115931931
|
0.10897
|
|
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
|
NM_000748.3(CHRNB2):c.210+9A>G
|
rs3926124
|
0.10829
|
|
NM_182914.3(SYNE2):c.11613A>G (p.Val3871=)
|
rs17101637
|
0.10790
|
|
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
|
NM_004409.5(DMPK):c.1267C>G (p.Leu423Val)
|
rs527221
|
0.10749
|
|
NM_005055.5(RAPSN):c.855G>A (p.Gln285=)
|
rs45603036
|
0.10742
|
|
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile)
|
rs2083914
|
0.10697
|
|
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)
|
rs472294
|
0.10691
|
|
NM_001377405.1(ATXN7):c.2137C>T (p.Leu713=)
|
rs3733125
|
0.10687
|
|
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=)
|
rs11166965
|
0.10684
|
|
NM_001160372.4(TRAPPC9):c.2431+7G>A
|
rs11166964
|
0.10663
|
|
NM_000053.4(ATP7B):c.2866-13G>C
|
rs7325983
|
0.10642
|
|
NM_001386140.1(MTTP):c.969T>C (p.Ala323=)
|
rs17533489
|
0.10642
|
|
NM_014141.6(CNTNAP2):c.2256-6A>T
|
rs10240482
|
0.10641
|
|
NM_018249.6(CDK5RAP2):c.5578+48C>T
|
rs10984902
|
0.10631
|
|
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=)
|
rs2646265
|
0.10608
|
|
NM_001999.4(FBN2):c.183C>G (p.Pro61=)
|
rs73348287
|
0.10581
|
|
NM_012210.4(TRIM32):c.1254G>A (p.Val418=)
|
rs1661300
|
0.10569
|
|
NM_001184.4(ATR):c.1885+39T>C
|
rs73240318
|
0.10546
|
|
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_024589.3(ROGDI):c.414G>A (p.Thr138=)
|
rs11553876
|
0.10521
|
|
NM_001254.4(CDC6):c.438T>C (p.Cys146=)
|
rs1130199
|
0.10516
|
|
NM_002024.6(FMR1):c.414G>A (p.Arg138=)
|
rs25707
|
0.10515
|
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
|
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=)
|
rs28932181
|
0.10490
|
|
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile)
|
rs3744825
|
0.10462
|
|
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu)
|
rs75589774
|
0.10422
|
|
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys)
|
rs16866538
|
0.10360
|
|
NM_004168.4(SDHA):c.1170C>T (p.Phe390=)
|
rs35277230
|
0.10356
|
|
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)
|
rs2295190
|
0.10350
|
|
NM_138501.6(TECR):c.822C>T (p.Gly274=)
|
rs61732092
|
0.10343
|
|
NM_182914.3(SYNE2):c.14844-5G>C
|
rs17825431
|
0.10335
|
|
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)
|
rs10870199
|
0.10324
|
|
NM_003283.6(TNNT1):c.129-9T>G
|
rs67795913
|
0.10318
|
|
NM_001377405.1(ATXN7):c.791A>G (p.Lys264Arg)
|
rs1053338
|
0.10279
|
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
|
NM_006059.4(LAMC3):c.75C>T (p.Cys25=)
|
rs13286358
|
0.10217
|
|
NM_001164508.2(NEB):c.2944-9G>A
|
rs13427102
|
0.10205
|
|
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro)
|
rs11553577
|
0.10199
|
|
NM_139343.3(BIN1):c.775-4G>A
|
rs61748157
|
0.10181
|
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
|
NM_001365088.1(SLC12A6):c.1825-13C>T
|
rs74010036
|
0.10170
|
|
NM_001378615.1(CC2D2A):c.-19+37G>C
|
rs6819598
|
0.10157
|
|
NM_005045.4(RELN):c.2989C>G (p.Leu997Val)
|
rs362691
|
0.10133
|
|
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr)
|
rs11669628
|
0.10133
|
|
NM_014795.4(ZEB2):c.917-21T>C
|
rs35213774
|
0.10114
|
|
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val)
|
rs4732748
|
0.10090
|
|
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu)
|
rs2295847
|
0.10087
|
|
NM_000152.5(GAA):c.1374C>T (p.Tyr458=)
|
rs1800305
|
0.10079
|
|
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala)
|
rs17402892
|
0.10073
|
|
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr)
|
rs9511510
|
0.10060
|
|
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe)
|
rs6010260
|
0.10037
|
|
NM_015559.3(SETBP1):c.4000+10T>A
|
rs3786177
|
0.10035
|
|
NM_004369.4(COL6A3):c.9213C>T (p.His3071=)
|
rs2270671
|
0.10029
|
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
|
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=)
|
rs17188183
|
0.09972
|
|
NM_001130987.2(DYSF):c.951+4T>C
|
rs11903960
|
0.09951
|
|
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=)
|
rs2291312
|
0.09947
|
|
NM_015215.4(CAMTA1):c.981C>T (p.Asn327=)
|
rs3737906
|
0.09941
|
|
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)
|
rs11559205
|
0.09934
|
|
NM_000124.4(ERCC6):c.411G>A (p.Leu137=)
|
rs4253013
|
0.09896
|
|
NM_001849.4(COL6A2):c.663C>T (p.Pro221=)
|
rs59531343
|
0.09859
|
|
NM_001267550.2(TTN):c.68217T>C (p.His22739=)
|
rs10497517
|
0.09829
|
|
NM_024306.5(FA2H):c.1039+8T>C
|
rs6564160
|
0.09790
|
|
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys)
|
rs41278952
|
0.09746
|
|
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=)
|
rs2228072
|
0.09736
|
|
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=)
|
rs34644439
|
0.09690
|
|
NM_001378615.1(CC2D2A):c.2003+19C>T
|
rs17476642
|
0.09677
|
|
NM_015426.5(POC1A):c.18+10G>A
|
rs114209632
|
0.09677
|
|
NM_005045.4(RELN):c.1776A>G (p.Glu592=)
|
rs2072403
|
0.09661
|
|
NM_020831.6(MRTFA):c.1999G>A (p.Ala667Thr)
|
rs202141481
|
0.09634
|
|
NM_022095.4(ZNF335):c.3384T>C (p.Pro1128=)
|
rs3746503
|
0.09613
|
|
NM_012156.2(EPB41L1):c.1338T>C (p.His446=)
|
rs2295568
|
0.09605
|
|
NM_182961.4(SYNE1):c.8177+9C>T
|
rs56877632
|
0.09596
|
|
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr)
|
rs1064210
|
0.09584
|
|
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile)
|
rs2274419
|
0.09566
|
|
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro)
|
rs77247739
|
0.09564
|
|
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=)
|
rs7701163
|
0.09554
|
|
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)
|
rs1801496
|
0.09551
|
|
NM_016035.5(COQ4):c.318G>A (p.Ser106=)
|
rs2270203
|
0.09525
|
|
NM_017721.5(CC2D1A):c.252G>A (p.Pro84=)
|
rs7250180
|
0.09465
|
|
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=)
|
rs80335370
|
0.09454
|
|
NM_015192.4(PLCB1):c.1251-4T>G
|
rs2076689
|
0.09450
|
|
NM_001999.4(FBN2):c.5823T>C (p.His1941=)
|
rs11955288
|
0.09446
|
|
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=)
|
rs75579703
|
0.09434
|
|
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser)
|
rs11568188
|
0.09405
|
|
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=)
|
rs2273506
|
0.09394
|
|
NM_001321142.2(CIDEC):c.33C>G (p.Leu11=)
|
rs17851444
|
0.09372
|
|
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=)
|
rs35686634
|
0.09361
|
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
|
NM_014832.5(TBC1D4):c.606C>T (p.Phe202=)
|
rs17254379
|
0.09341
|
|
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)
|
rs7833870
|
0.09284
|
|
NM_001458.5(FLNC):c.147C>T (p.His49=)
|
rs3734972
|
0.09267
|
|
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=)
|
rs17846715
|
0.09246
|
|
NM_001367721.1(CASK):c.1034-6C>T
|
rs73470569
|
0.09241
|
|
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=)
|
rs2291306
|
0.09235
|
|
NM_004525.3(LRP2):c.2376T>C (p.Asp792=)
|
rs33954745
|
0.09210
|
|
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)
|
rs2306942
|
0.09135
|
|
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=)
|
rs6732060
|
0.09129
|
|
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg)
|
rs17850652
|
0.09110
|
|
NM_004560.4(ROR2):c.498T>C (p.Asp166=)
|
rs16907720
|
0.09084
|
|
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=)
|
rs6478475
|
0.09053
|
|
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr)
|
rs1064204
|
0.09043
|
|
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser)
|
rs138675433
|
0.09012
|
|
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala)
|
rs34507036
|
0.09001
|
|
NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=)
|
rs825045
|
0.08992
|
|
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=)
|
rs72648978
|
0.08958
|
|
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)
|
rs35836657
|
0.08930
|
|
NM_000023.4(SGCA):c.933C>T (p.Val311=)
|
rs1801191
|
0.08920
|
|
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=)
|
rs10964471
|
0.08917
|
|
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=)
|
rs61739560
|
0.08885
|
|
NM_001191061.2(SLC25A22):c.293+27G>A
|
rs79478359
|
0.08883
|
|
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=)
|
rs57593250
|
0.08881
|
|
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg)
|
rs35927125
|
0.08880
|
|
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr)
|
rs9944035
|
0.08879
|
|
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=)
|
rs34457678
|
0.08878
|
|
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=)
|
rs12125492
|
0.08850
|
|
NM_000079.4(CHRNA1):c.960C>T (p.His320=)
|
rs2229957
|
0.08849
|
|
NM_001371623.1(TCOF1):c.3604-3C>T
|
rs11743855
|
0.08821
|
|
NM_138711.6(PPARG):c.-8-28078C>G
|
rs1801282
|
0.08816
|
|
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)
|
rs34312154
|
0.08810
|
|
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_001458.5(FLNC):c.4056C>T (p.Arg1352=)
|
rs75770585
|
0.08775
|
|
NM_014687.4(RUBCN):c.230G>A (p.Arg77His)
|
rs61743568
|
0.08751
|
|
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter)
|
rs2781377
|
0.08740
|
|
NM_005271.5(GLUD1):c.942A>G (p.Leu314=)
|
rs9421572
|
0.08685
|
|
NM_001368397.1(FRMPD4):c.2007T>C (p.Leu669=)
|
rs67823099
|
0.08669
|
|
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_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln)
|
rs12514417
|
0.08598
|
|
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_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
|
NM_213622.4(STAMBP):c.1218+20A>G
|
rs2303987
|
0.08472
|
|
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_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
0.08387
|
|
NM_000426.4(LAMA2):c.156C>T (p.Ile52=)
|
rs1140366
|
0.08370
|
|
NM_001378969.1(KCND3):c.264C>T (p.Pro88=)
|
rs17221819
|
0.08351
|
|
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr)
|
rs4893852
|
0.08349
|
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
|
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile)
|
rs34762152
|
0.08326
|
|
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=)
|
rs6717213
|
0.08304
|
|
NM_198576.4(AGRN):c.5358T>C (p.Gly1786=)
|
rs17160781
|
0.08292
|
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
|
NM_001163809.2(WDR81):c.3831C>T (p.Ala1277=)
|
rs12150338
|
0.08258
|
|
NM_024306.5(FA2H):c.933T>C (p.Tyr311=)
|
rs11554620
|
0.08207
|
|
NM_182476.3(COQ6):c.1016A>T (p.Asp339Val)
|
rs2074930
|
0.08198
|
|
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)
|
rs35548026
|
0.08193
|
|
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr)
|
rs62621236
|
0.08189
|
|
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=)
|
rs3026160
|
0.08178
|
|
NM_182914.3(SYNE2):c.6865T>C (p.Leu2289=)
|
rs11850509
|
0.08174
|
|
NM_003194.5(TBP):c.216A>G (p.Gln72=)
|
rs55736770
|
0.08146
|
|
NM_001374828.1(ARID1B):c.3235+38C>T
|
rs9384530
|
0.08126
|
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
|
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile)
|
rs7167216
|
0.08093
|
|
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val)
|
rs3733319
|
0.08088
|
|
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=)
|
rs2614718
|
0.08065
|
|
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)
|
rs16006
|
0.08064
|
|
NM_006947.4(SRP72):c.1671A>G (p.Lys557=)
|
rs34419325
|
0.08059
|
|
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)
|
rs34775878
|
0.08024
|
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.08017
|
|
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_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)
|
rs73989521
|
0.07946
|
|
NM_017668.3(NDE1):c.948-53G>A
|
rs7193920
|
0.07945
|
|
NM_014832.5(TBC1D4):c.3440C>T (p.Thr1147Met)
|
rs9600455
|
0.07900
|
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
|
NM_000553.6(WRN):c.1577-3C>A
|
rs3087409
|
0.07869
|
|
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser)
|
rs33944211
|
0.07857
|
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
|
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu)
|
rs13398235
|
0.07839
|
|
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)
|
rs56207956
|
0.07828
|
|
NM_000553.6(WRN):c.340G>A (p.Val114Ile)
|
rs2230009
|
0.07797
|
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
|
NM_001267550.2(TTN):c.25921+10C>T
|
rs10183237
|
0.07769
|
|
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)
|
rs2302566
|
0.07763
|
|
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile)
|
rs35027700
|
0.07759
|
|
NM_024596.5(MCPH1):c.513= (p.Arg171=)
|
rs2442513
|
0.07742
|
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
|
NM_000748.3(CHRNB2):c.1338+14G>T
|
rs4845378
|
0.07732
|
|
NM_198904.4(GABRG2):c.315C>T (p.Asn105=)
|
rs11135176
|
0.07676
|
|
NM_002168.4(IDH2):c.996C>T (p.Ser332=)
|
rs61737003
|
0.07655
|
|
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=)
|
rs2227932
|
0.07623
|
|
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu)
|
rs58308209
|
0.07595
|
|
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=)
|
rs591040
|
0.07584
|
|
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_014254.3(RXYLT1):c.67G>A (p.Ala23Thr)
|
rs61935924
|
0.07537
|
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
|
NM_133444.3(ZNF526):c.281T>C (p.Val94Ala)
|
rs3810151
|
0.07452
|
|
NM_001197104.2(KMT2A):c.7254C>T (p.Asn2418=)
|
rs2071702
|
0.07440
|
|
NM_001321142.2(CIDEC):c.600C>T (p.His200=)
|
rs17222536
|
0.07435
|
|
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=)
|
rs55681486
|
0.07419
|
|
NM_020987.5(ANK3):c.6066C>T (p.Ala2022=)
|
rs17208576
|
0.07406
|
|
NM_020987.5(ANK3):c.8655C>A (p.His2885Gln)
|
rs11599164
|
0.07405
|
|
NM_182914.3(SYNE2):c.9389A>G (p.Asn3130Ser)
|
rs11847087
|
0.07400
|
|
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=)
|
rs2076697
|
0.07398
|
|
NM_020987.5(ANK3):c.9349A>G (p.Ile3117Val)
|
rs28932171
|
0.07385
|
|
NM_000751.3(CHRND):c.1047+9T>C
|
rs3762528
|
0.07349
|
|
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=)
|
rs11991764
|
0.07344
|
|
NM_000080.4(CHRNE):c.345-7C>T
|
rs72835059
|
0.07330
|
|
NM_172107.4(KCNQ2):c.912C>T (p.Phe304=)
|
rs2297385
|
0.07323
|
|
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)
|
rs11690358
|
0.07295
|
|
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=)
|
rs7759963
|
0.07295
|
|
NM_006392.4(NOP56):c.361A>G (p.Ile121Val)
|
rs2273137
|
0.07282
|
|
NM_001083961.2(WDR62):c.1643-39G>A
|
rs2301735
|
0.07203
|
|
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=)
|
rs45450992
|
0.07198
|
|
NM_030653.4(DDX11):c.1521+6T>C
|
rs71455621
|
0.07198
|
|
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)
|
rs61753724
|
0.07191
|
|
NM_003560.4(PLA2G6):c.87G>A (p.Val29=)
|
rs2267369
|
0.07176
|
|
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)
|
rs184087864
|
0.07175
|
|
NM_024596.5(MCPH1):c.863C>A (p.Pro288His)
|
rs35590577
|
0.07163
|
|
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=)
|
rs16866425
|
0.07162
|
|
NM_017757.3(ZNF407):c.206A>G (p.Asn69Ser)
|
rs3794942
|
0.07157
|
|
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu)
|
rs6723526
|
0.07129
|
|
NM_025265.4(TSEN2):c.377G>A (p.Arg126His)
|
rs33955793
|
0.07115
|
|
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=)
|
rs3750494
|
0.07110
|
|
NM_004722.4(AP4M1):c.812G>A (p.Arg271His)
|
rs41280968
|
0.07094
|
|
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_000047.3(ARSL):c.78A>G (p.Ala26=)
|
rs35718384
|
0.07015
|
|
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu)
|
rs2291628
|
0.07011
|
|
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=)
|
rs1801471
|
0.07011
|
|
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)
|
rs17851582
|
0.07010
|
|
NM_001999.4(FBN2):c.7013-5T>C
|
rs28763927
|
0.06995
|
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
|
NM_020944.3(GBA2):c.33C>T (p.Thr11=)
|
rs34312177
|
0.06991
|
|
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=)
|
rs41300169
|
0.06912
|
|
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=)
|
rs61729844
|
0.06907
|
|
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=)
|
rs34558385
|
0.06903
|
|
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=)
|
rs11683438
|
0.06890
|
|
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=)
|
rs35281128
|
0.06868
|
|
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=)
|
rs11547779
|
0.06867
|
|
NM_020717.5(SHROOM4):c.3414A>G (p.Glu1138=)
|
rs6614552
|
0.06860
|
|
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr)
|
rs2289189
|
0.06844
|
|
NM_006005.3(WFS1):c.2322G>A (p.Lys774=)
|
rs2230721
|
0.06809
|
|
NM_014832.5(TBC1D4):c.302C>T (p.Ala101Val)
|
rs77685055
|
0.06802
|
|
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)
|
rs112562759
|
0.06801
|
|
NM_024596.5(MCPH1):c.1936-43T>G
|
rs41311412
|
0.06799
|
|
NM_020987.5(ANK3):c.9137C>G (p.Thr3046Ser)
|
rs74153183
|
0.06794
|
|
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met)
|
rs17544552
|
0.06764
|
|
NM_001365536.1(SCN9A):c.3802-4A>G
|
rs75230218
|
0.06754
|
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
|
NM_006059.4(LAMC3):c.1047C>T (p.Gly349=)
|
rs45603838
|
0.06722
|
|
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=)
|
rs10084221
|
0.06701
|
|
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
|
rs8192695
|
0.06691
|
|
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)
|
rs10201909
|
0.06660
|
|
NM_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
|
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=)
|
rs149207258
|
0.06646
|
|
NM_025265.4(TSEN2):c.162G>A (p.Ala54=)
|
rs78685815
|
0.06643
|
|
NM_182961.4(SYNE1):c.3306C>T (p.His1102=)
|
rs17082701
|
0.06632
|
|
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=)
|
rs2742343
|
0.06625
|
|
NM_005984.5(SLC25A1):c.279T>C (p.Gly93=)
|
rs2070255
|
0.06611
|
|
NM_000080.4(CHRNE):c.1033-6C>T
|
rs2075763
|
0.06582
|
|
NM_006031.6(PCNT):c.7913+32C>T
|
rs57385578
|
0.06573
|
|
NM_000540.3(RYR1):c.5334G>T (p.Ser1778=)
|
rs35566549
|
0.06569
|
|
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=)
|
rs3734365
|
0.06565
|
|
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_207346.3(TSEN54):c.521+39C>T
|
rs57636645
|
0.06538
|
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
|
NM_144508.5(KNL1):c.4339A>G (p.Thr1447Ala)
|
rs16970911
|
0.06529
|
|
NM_207346.3(TSEN54):c.624-37A>C
|
rs73998306
|
0.06523
|
|
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=)
|
rs62642470
|
0.06519
|
|
NM_004933.3(CDH15):c.109G>T (p.Ala37Ser)
|
rs2287359
|
0.06504
|
|
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)
|
rs150688899
|
0.06491
|
|
NM_002206.3(ITGA7):c.415-10C>T
|
rs11171661
|
0.06475
|
|
NM_001130987.2(DYSF):c.1038C>T (p.His346=)
|
rs36122356
|
0.06463
|
|
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala)
|
rs11576415
|
0.06461
|
|
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=)
|
rs61741754
|
0.06453
|
|
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro)
|
rs11883041
|
0.06417
|
|
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile)
|
rs13157270
|
0.06417
|
|
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)
|
rs3208406
|
0.06407
|
|
NM_014832.5(TBC1D4):c.1611T>G (p.Ser537=)
|
rs9565152
|
0.06392
|
|
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=)
|
rs34460293
|
0.06381
|
|
NM_017777.4(MKS1):c.1671G>C (p.Leu557=)
|
rs11548967
|
0.06374
|
|
NM_001118887.2(ANGPT2):c.1092T>C (p.Asn364=)
|
rs17063434
|
0.06336
|
|
NM_018294.6(CWF19L1):c.776C>T (p.Pro259Leu)
|
rs7073610
|
0.06334
|
|
NM_018129.4(PNPO):c.552G>A (p.Leu184=)
|
rs4378657
|
0.06317
|
|
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu)
|
rs17851770
|
0.06310
|
|
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_018943.3(TUBA8):c.1057-7C>T
|
rs2234338
|
0.06275
|
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
|
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln)
|
rs2291569
|
0.06258
|
|
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=)
|
rs13339237
|
0.06245
|
|
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_006031.6(PCNT):c.5535G>A (p.Arg1845=)
|
rs61735543
|
0.06211
|
|
NM_201384.3(PLEC):c.2658G>A (p.Leu886=)
|
rs78012434
|
0.06211
|
|
NM_000334.4(SCN4A):c.864C>T (p.Asn288=)
|
rs7218917
|
0.06188
|
|
NM_000381.4(MID1):c.1230C>T (p.Ser410=)
|
rs16986145
|
0.06185
|
|
NM_005445.4(SMC3):c.351-9T>C
|
rs78663177
|
0.06159
|
|
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=)
|
rs75323904
|
0.06157
|
|
NM_018943.3(TUBA8):c.897C>T (p.Asn299=)
|
rs362203
|
0.06153
|
|
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=)
|
rs60720055
|
0.06152
|
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
|
NM_001909.5(CTSD):c.231C>T (p.Ala77=)
|
rs2230067
|
0.06127
|
|
NM_001849.4(COL6A2):c.1770+4G>A
|
rs9981981
|
0.06098
|
|
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val)
|
rs16961560
|
0.06089
|
|
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys)
|
rs17183814
|
0.06063
|
|
NM_000553.6(WRN):c.1161G>A (p.Met387Ile)
|
rs1800391
|
0.06046
|
|
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)
|
rs10164753
|
0.06031
|
|
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val)
|
rs17082709
|
0.06016
|
|
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_006031.6(PCNT):c.7874G>A (p.Arg2625Gln)
|
rs8131693
|
0.05976
|
|
NM_002470.4(MYH3):c.2106C>T (p.Gly702=)
|
rs56259391
|
0.05968
|
|
NM_002470.4(MYH3):c.2610A>G (p.Lys870=)
|
rs56163389
|
0.05967
|
|
NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=)
|
rs2413502
|
0.05955
|
|
NM_015634.4(KIFBP):c.1023G>A (p.Gln341=)
|
rs16926021
|
0.05950
|
|
NM_005045.4(RELN):c.6702T>C (p.Cys2234=)
|
rs2075043
|
0.05938
|
|
NM_003560.4(PLA2G6):c.957G>A (p.Thr319=)
|
rs11570679
|
0.05937
|
|
NM_006031.6(PCNT):c.6150+49C>T
|
rs112334245
|
0.05936
|
|
NM_000047.3(ARSL):c.786G>A (p.Thr262=)
|
rs17325750
|
0.05921
|
|
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=)
|
rs34534853
|
0.05909
|
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505
|
0.05906
|
|
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg)
|
rs11870627
|
0.05898
|
|
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=)
|
rs61735811
|
0.05866
|
|
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile)
|
rs41303733
|
0.05862
|
|
NM_007137.5(ZNF81):c.638C>A (p.Ala213Glu)
|
rs537825
|
0.05857
|
|
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=)
|
rs16866473
|
0.05854
|
|
NM_032119.4(ADGRV1):c.18311-22A>G
|
rs3749605
|
0.05845
|
|
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_002206.3(ITGA7):c.810G>A (p.Gly270=)
|
rs3847675
|
0.05834
|
|
NM_004056.6(CA8):c.334C>T (p.Leu112=)
|
rs61743130
|
0.05823
|
|
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=)
|
rs1805028
|
0.05818
|
|
NM_007137.5(ZNF81):c.1911G>A (p.Pro637=)
|
rs663514
|
0.05818
|
|
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=)
|
rs11988293
|
0.05812
|
|
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=)
|
rs62642469
|
0.05798
|
|
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=)
|
rs61421477
|
0.05793
|
|
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=)
|
rs3731744
|
0.05786
|
|
NM_000047.3(ARSL):c.1728G>A (p.Pro576=)
|
rs11055
|
0.05776
|
|
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_018075.5(ANO10):c.1066A>G (p.Ser356Gly)
|
rs56389778
|
0.05750
|
|
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)
|
rs17543819
|
0.05741
|
|
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=)
|
rs34803322
|
0.05741
|
|
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)
|
rs4894048
|
0.05739
|
|
NM_001384732.1(CPLANE1):c.570+32G>A
|
rs10072236
|
0.05734
|
|
NM_018082.6(POLR3B):c.1102C>T (p.Leu368Phe)
|
rs201079775
|
0.05733
|
|
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)
|
rs16866378
|
0.05725
|
|
NM_001278116.2(L1CAM):c.2209-6C>T
|
rs7885771
|
0.05725
|
|
NM_024809.5(TCTN2):c.873A>G (p.Ala291=)
|
rs73418153
|
0.05717
|
|
NM_024809.5(TCTN2):c.225C>T (p.Asn75=)
|
rs73416301
|
0.05714
|
|
NM_024809.5(TCTN2):c.83-4C>T
|
rs73416299
|
0.05712
|
|
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr)
|
rs35147998
|
0.05666
|
|
NM_004268.5(MED17):c.516C>T (p.Thr172=)
|
rs7119915
|
0.05663
|
|
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=)
|
rs3761170
|
0.05661
|
|
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=)
|
rs17575754
|
0.05655
|
|
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu)
|
rs16869016
|
0.05655
|
|
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn)
|
rs11888217
|
0.05644
|
|
NM_001366110.1(PAX4):c.543A>G (p.Gln181=)
|
rs327517
|
0.05634
|
|
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile)
|
rs6149
|
0.05632
|
|
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=)
|
rs3829749
|
0.05620
|
|
NM_016302.4(CRBN):c.735T>C (p.Tyr245=)
|
rs17027638
|
0.05605
|
|
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=)
|
rs12993099
|
0.05590
|
|
NM_000726.5(CACNB4):c.762T>A (p.Ile254=)
|
rs61736804
|
0.05586
|
|
NM_025114.4(CEP290):c.6357+20A>T
|
rs7971699
|
0.05562
|
|
NM_004268.5(MED17):c.342T>C (p.Asp114=)
|
rs16919376
|
0.05535
|
|
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_019892.6(INPP5E):c.1359C>T (p.Pro453=)
|
rs35774078
|
0.05472
|
|
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
|
rs3804505
|
0.05453
|
|
NM_001080414.4(CCDC88C):c.1131C>T (p.Gly377=)
|
rs17127245
|
0.05435
|
|
NM_213622.4(STAMBP):c.12T>C (p.His4=)
|
rs919629
|
0.05408
|
|
NM_001368397.1(FRMPD4):c.1470+9C>T
|
rs7877197
|
0.05406
|
|
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)
|
rs7307793
|
0.05381
|
|
NM_201525.4(ADGRG1):c.1286+6G>A
|
rs74326170
|
0.05376
|
|
NM_025114.4(CEP290):c.5709+18C>A
|
rs7973969
|
0.05367
|
|
NM_025114.4(CEP290):c.442-19T>A
|
rs113132803
|
0.05334
|
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
|
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=)
|
rs41272387
|
0.05313
|
|
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=)
|
rs41272389
|
0.05312
|
|
NM_000431.4(MVK):c.405G>A (p.Ser135=)
|
rs34368092
|
0.05306
|
|
NM_002168.4(IDH2):c.1050C>T (p.Thr350=)
|
rs11540478
|
0.05301
|
|
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)
|
rs17593
|
0.05293
|
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
|
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val)
|
rs35858667
|
0.05256
|
|
NM_006031.6(PCNT):c.711T>G (p.His237Gln)
|
rs34500739
|
0.05250
|
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
|
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=)
|
rs35139934
|
0.05241
|
|
NM_018486.3(HDAC8):c.438-15C>T
|
rs72630048
|
0.05226
|
|
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly)
|
rs6782980
|
0.05224
|
|
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=)
|
rs58889246
|
0.05156
|
|
NM_002472.3(MYH8):c.1907C>T (p.Ala636Val)
|
rs34693726
|
0.05120
|
|
NM_002617.4(PEX10):c.279C>T (p.Gly93=)
|
rs1143016
|
0.05120
|
|
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val)
|
rs2235638
|
0.05119
|
|
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=)
|
rs55863869
|
0.05117
|
|
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile)
|
rs35591210
|
0.05093
|
|
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=)
|
rs58905396
|
0.05078
|
|
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His)
|
rs34268261
|
0.05068
|
|
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=)
|
rs2742344
|
0.05063
|
|
NM_001184.4(ATR):c.3172-26T>A
|
rs76852171
|
0.05061
|
|
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)
|
rs8192690
|
0.05059
|
|
NM_000383.4(AIRE):c.1203T>C (p.Pro401=)
|
rs61737072
|
0.05045
|
|
NM_198576.4(AGRN):c.3516+10G>C
|
rs76264143
|
0.05034
|
|
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=)
|
rs4894045
|
0.05021
|
|
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln)
|
rs11772411
|
0.05021
|
|
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg)
|
rs4893853
|
0.05020
|
|
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=)
|
rs3027883
|
0.05020
|
|
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=)
|
rs17117883
|
0.05018
|
|
NM_001194998.2(CEP152):c.2019-13G>A
|
rs9302144
|
0.05016
|
|
NM_002472.3(MYH8):c.2016C>T (p.Phe672=)
|
rs12936716
|
0.05000
|
|
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His)
|
rs743346
|
0.04982
|
|
NM_014855.3(AP5Z1):c.1131C>T (p.His377=)
|
rs11768079
|
0.04978
|
|
NM_006005.3(WFS1):c.1367G>A (p.Arg456His)
|
rs1801208
|
0.04977
|
|
NM_015634.4(KIFBP):c.1653C>T (p.Ala551=)
|
rs35893997
|
0.04974
|
|
NM_182914.3(SYNE2):c.4177C>T (p.Arg1393Trp)
|
rs17751301
|
0.04972
|
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
|
NM_006031.6(PCNT):c.7536G>A (p.Pro2512=)
|
rs61735818
|
0.04944
|
|
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln)
|
rs17679445
|
0.04944
|
|
NM_021956.5(GRIK2):c.1281C>G (p.Ser427=)
|
rs34747916
|
0.04937
|
|
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val)
|
rs6884652
|
0.04935
|
|
NM_006005.3(WFS1):c.1023C>T (p.Phe341=)
|
rs56072215
|
0.04932
|
|
NM_015272.5(RPGRIP1L):c.530-29G>A
|
rs74393433
|
0.04932
|
|
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=)
|
rs61735815
|
0.04931
|
|
NM_004456.5(EZH2):c.2110+6T>G
|
rs41277434
|
0.04917
|
|
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His)
|
rs12138336
|
0.04915
|
|
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.04908
|
|
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn)
|
rs2306636
|
0.04907
|
|
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=)
|
rs3730090
|
0.04903
|
|
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=)
|
rs7868455
|
0.04901
|
|
NM_000552.5(VWF):c.3258C>T (p.Tyr1086=)
|
rs112634786
|
0.04897
|
|
NM_006031.6(PCNT):c.1937-44G>A
|
rs17297961
|
0.04884
|
|
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met)
|
rs17409162
|
0.04859
|
|
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)
|
rs1801246
|
0.04852
|
|
NM_201384.3(PLEC):c.2613-7C>A
|
rs11990994
|
0.04852
|
|
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)
|
rs34012042
|
0.04830
|
|
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=)
|
rs17081368
|
0.04825
|
|
NM_138501.6(TECR):c.618C>T (p.Leu206=)
|
rs59273619
|
0.04819
|
|
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=)
|
rs11137244
|
0.04812
|
|
NM_001109809.5(ZFP57):c.1103A>T (p.Asp368Val)
|
rs2535241
|
0.04806
|
|
NM_004525.3(LRP2):c.6759T>C (p.Asp2253=)
|
rs35114151
|
0.04805
|
|
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)
|
rs62088470
|
0.04801
|
|
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=)
|
rs2291308
|
0.04799
|
|
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile)
|
rs56142888
|
0.04798
|
|
NM_182914.3(SYNE2):c.16722A>G (p.Gln5574=)
|
rs17101704
|
0.04797
|
|
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)
|
rs12476289
|
0.04792
|
|
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_003070.5(SMARCA2):c.174G>A (p.Pro58=)
|
rs10964470
|
0.04780
|
|
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys)
|
rs1130183
|
0.04770
|
|
NM_198576.4(AGRN):c.4996G>A (p.Val1666Ile)
|
rs17160775
|
0.04750
|
|
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val)
|
rs3742884
|
0.04741
|
|
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala)
|
rs12045447
|
0.04740
|
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
|
NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala)
|
rs17038460
|
0.04732
|
|
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu)
|
rs3742885
|
0.04730
|
|
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys)
|
rs35364374
|
0.04719
|
|
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)
|
rs8178990
|
0.04717
|
|
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly)
|
rs34694816
|
0.04715
|
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
|
NM_001366110.1(PAX4):c.474C>T (p.Gly158=)
|
rs77039439
|
0.04703
|
|
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=)
|
rs3729981
|
0.04683
|
|
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=)
|
rs112173070
|
0.04668
|
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
|
NM_000540.3(RYR1):c.3858T>C (p.Leu1286=)
|
rs16972636
|
0.04660
|
|
NM_198576.4(AGRN):c.804C>T (p.Ala268=)
|
rs113789806
|
0.04656
|
|
NM_003619.4(PRSS12):c.2498G>A (p.Arg833Gln)
|
rs17594503
|
0.04649
|
|
NM_018294.6(CWF19L1):c.720G>A (p.Ala240=)
|
rs17112787
|
0.04645
|
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
|
NM_001244008.2(KIF1A):c.4319-8C>T
|
rs1529663
|
0.04602
|
|
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=)
|
rs28997582
|
0.04598
|
|
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg)
|
rs7729495
|
0.04586
|
|
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu)
|
rs111250109
|
0.04561
|
|
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_016955.4(SEPSECS):c.1211+7A>G
|
rs17408685
|
0.04557
|
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
|
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=)
|
rs9808036
|
0.04549
|
|
NM_020987.5(ANK3):c.8013C>T (p.Ser2671=)
|
rs41274674
|
0.04537
|
|
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_001184.4(ATR):c.2442A>G (p.Glu814=)
|
rs55895932
|
0.04528
|
|
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=)
|
rs76517176
|
0.04500
|
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
|
NM_001184.4(ATR):c.4383-47A>G
|
rs58348002
|
0.04498
|
|
NM_004268.5(MED17):c.1548T>C (p.Tyr516=)
|
rs16919389
|
0.04492
|
|
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=)
|
rs74693100
|
0.04490
|
|
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=)
|
rs7049247
|
0.04476
|
|
NM_024757.5(EHMT1):c.129A>T (p.Ala43=)
|
rs76684726
|
0.04476
|
|
NM_000540.3(RYR1):c.10687-10C>T
|
rs77592501
|
0.04475
|
|
NM_006031.6(PCNT):c.54+6C>T
|
rs80017051
|
0.04471
|
|
NM_001378615.1(CC2D2A):c.541-25G>T
|
rs16892080
|
0.04468
|
|
NM_006279.5(ST3GAL3):c.892-9G>A
|
rs80055718
|
0.04438
|
|
NM_006059.4(LAMC3):c.3790C>T (p.Arg1264Trp)
|
rs11244275
|
0.04427
|
|
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
|
rs1800315
|
0.04402
|
|
NM_004525.3(LRP2):c.4236G>C (p.Arg1412=)
|
rs34915742
|
0.04398
|
|
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)
|
rs58022607
|
0.04393
|
|
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=)
|
rs6143
|
0.04393
|
|
NM_004525.3(LRP2):c.4046-6T>C
|
rs76714416
|
0.04392
|
|
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_015192.4(PLCB1):c.99+8T>C
|
rs6086350
|
0.04369
|
|
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)
|
rs2227869
|
0.04366
|
|
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)
|
rs34671418
|
0.04349
|
|
NM_025114.4(CEP290):c.942+28T>C
|
rs56149649
|
0.04349
|
|
NM_003283.6(TNNT1):c.33-8G>A
|
rs76630067
|
0.04332
|
|
NM_003482.4(KMT2D):c.10671A>G (p.Pro3557=)
|
rs61942218
|
0.04331
|
|
NM_005677.4(COLQ):c.366+7A>G
|
rs750387
|
0.04329
|
|
NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val)
|
rs2288200
|
0.04316
|
|
NM_000391.4(TPP1):c.441A>G (p.Glu147=)
|
rs2555170
|
0.04313
|
|
NM_003482.4(KMT2D):c.2438C>T (p.Pro813Leu)
|
rs75226229
|
0.04312
|
|
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=)
|
rs61735817
|
0.04297
|
|
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu)
|
rs61735814
|
0.04295
|
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04292
|
|
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)
|
rs1800205
|
0.04289
|
|
NM_025000.4(DCAF17):c.939G>A (p.Gln313=)
|
rs61731491
|
0.04289
|
|
NM_001184.4(ATR):c.5381-41C>T
|
rs34502778
|
0.04288
|
|
NM_001378615.1(CC2D2A):c.777C>T (p.His259=)
|
rs2286976
|
0.04284
|
|
NM_139343.3(BIN1):c.714C>T (p.Tyr238=)
|
rs1137845
|
0.04283
|
|
NM_201384.3(PLEC):c.10014C>T (p.Val3338=)
|
rs35775257
|
0.04275
|
|
NM_001109809.5(ZFP57):c.559C>T (p.Arg187Cys)
|
rs61730330
|
0.04274
|
|
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
|
rs7970228
|
0.04262
|
|
NM_153704.6(TMEM67):c.406+1361C>T
|
rs73324992
|
0.04251
|
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
|
NM_001083961.2(WDR62):c.1768+28G>A
|
rs77938609
|
0.04228
|
|
NM_000096.4(CP):c.1950A>C (p.Gly650=)
|
rs1053709
|
0.04222
|
|
NM_001083961.2(WDR62):c.180G>A (p.Val60=)
|
rs61742664
|
0.04216
|
|
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=)
|
rs1139406
|
0.04214
|
|
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val)
|
rs34121009
|
0.04213
|
|
NM_004933.3(CDH15):c.174C>T (p.His58=)
|
rs2287358
|
0.04202
|
|
NM_138501.6(TECR):c.799+6C>T
|
rs10405483
|
0.04190
|
|
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=)
|
rs35959206
|
0.04188
|
|
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=)
|
rs1139807
|
0.04188
|
|
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=)
|
rs11549223
|
0.04188
|
|
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val)
|
rs77469944
|
0.04185
|
|
NM_018136.5(ASPM):c.1977T>C (p.Ile659=)
|
rs17550662
|
0.04184
|
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657
|
0.04171
|
|
NM_001374828.1(ARID1B):c.1986+28T>C
|
rs73572289
|
0.04166
|
|
NM_013339.4(ALG6):c.981T>C (p.Phe327=)
|
rs75451833
|
0.04164
|
|
NM_207346.3(TSEN54):c.568G>A (p.Val190Met)
|
rs79508780
|
0.04141
|
|
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=)
|
rs9105
|
0.04127
|
|
NM_001429.4(EP300):c.2380-15T>C
|
rs17002316
|
0.04125
|
|
NM_000334.4(SCN4A):c.366C>T (p.Arg122=)
|
rs41280108
|
0.04121
|
|
NM_003482.4(KMT2D):c.14251+18T>C
|
rs74830946
|
0.04121
|
|
NM_198576.4(AGRN):c.5070C>T (p.Phe1690=)
|
rs17160776
|
0.04120
|
|
NM_182914.3(SYNE2):c.14776T>C (p.Leu4926=)
|
rs8007874
|
0.04106
|
|
NM_003482.4(KMT2D):c.14238G>A (p.Arg4746=)
|
rs75340924
|
0.04096
|
|
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_004525.3(LRP2):c.13155C>T (p.His4385=)
|
rs16856476
|
0.04079
|
|
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.105782C>T (p.Pro35261Leu)
|
rs16866380
|
0.04073
|
|
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_002666.5(PLIN1):c.1248C>T (p.Phe416=)
|
rs8179074
|
0.04064
|
|
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr)
|
rs746748
|
0.04054
|
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
|
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=)
|
rs16830192
|
0.04050
|
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
|
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=)
|
rs9383987
|
0.04048
|
|
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)
|
rs56290406
|
0.04044
|
|
NM_001197104.2(KMT2A):c.5679A>G (p.Leu1893=)
|
rs7107305
|
0.04025
|
|
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=)
|
rs1801247
|
0.04023
|
|
NM_001429.4(EP300):c.3348G>A (p.Gln1116=)
|
rs20554
|
0.04022
|
|
NM_022095.4(ZNF335):c.2595C>A (p.Asp865Glu)
|
rs41280276
|
0.04003
|
|
NM_001197104.2(KMT2A):c.4284A>C (p.Ile1428=)
|
rs9332801
|
0.04002
|
|
NM_006086.4(TUBB3):c.277+8C>T
|
rs77191445
|
0.03997
|
|
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr)
|
rs112787369
|
0.03993
|
|
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=)
|
rs77117049
|
0.03987
|
|
NM_006757.4(TNNT3):c.636T>C (p.Ile212=)
|
rs16927166
|
0.03978
|
|
NM_030928.4(CDT1):c.1500G>T (p.Leu500=)
|
rs3218720
|
0.03976
|
|
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His)
|
rs4894028
|
0.03961
|
|
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=)
|
rs75586449
|
0.03960
|
|
NM_000080.4(CHRNE):c.519C>T (p.Ala173=)
|
rs33970119
|
0.03958
|
|
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)
|
rs17599091
|
0.03958
|
|
NM_139343.3(BIN1):c.894G>A (p.Ser298=)
|
rs2228955
|
0.03955
|
|
NM_025114.4(CEP290):c.5709+25A>C
|
rs17015438
|
0.03950
|
|
NM_001267550.2(TTN):c.49731T>C (p.His16577=)
|
rs2115558
|
0.03943
|
|
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)
|
rs16892095
|
0.03933
|
|
NM_000156.6(GAMT):c.571-6G>A
|
rs2074899
|
0.03927
|
|
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro)
|
rs62534884
|
0.03925
|
|
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)
|
rs3731752
|
0.03923
|
|
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe)
|
rs76094493
|
0.03919
|
|
NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu)
|
rs34625768
|
0.03914
|
|
NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly)
|
rs7157465
|
0.03914
|
|
NM_022095.4(ZNF335):c.2703C>T (p.Ser901=)
|
rs3746504
|
0.03894
|
|
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=)
|
rs13031275
|
0.03886
|
|
NM_006031.6(PCNT):c.520A>G (p.Ile174Val)
|
rs61735822
|
0.03881
|
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
|
NM_001083961.2(WDR62):c.561+44C>G
|
rs115806759
|
0.03880
|
|
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=)
|
rs41274330
|
0.03876
|
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
|
NM_182914.3(SYNE2):c.4536A>G (p.Thr1512=)
|
rs11158524
|
0.03853
|
|
NM_004525.3(LRP2):c.3836A>C (p.Asp1279Ala)
|
rs17848149
|
0.03848
|
|
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=)
|
rs73626656
|
0.03822
|
|
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=)
|
rs16947296
|
0.03818
|
|
NM_001128164.2(ATXN1):c.639G>T (p.Gln213His)
|
rs3817753
|
0.03817
|
|
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=)
|
rs17062686
|
0.03808
|
|
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)
|
rs62000408
|
0.03806
|
|
NM_020987.5(ANK3):c.2565T>C (p.Asn855=)
|
rs10994234
|
0.03800
|
|
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)
|
rs56126202
|
0.03793
|
|
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)
|
rs36031496
|
0.03789
|
|
NM_017755.6(NSUN2):c.622+7A>T
|
rs16877704
|
0.03788
|
|
NM_001843.4(CNTN1):c.1893T>C (p.His631=)
|
rs2229929
|
0.03763
|
|
NM_182914.3(SYNE2):c.14737G>A (p.Glu4913Lys)
|
rs12881815
|
0.03757
|
|
NM_144508.5(KNL1):c.245T>C (p.Met82Thr)
|
rs79413475
|
0.03753
|
|
NM_005045.4(RELN):c.8508C>T (p.Phe2836=)
|
rs2229862
|
0.03751
|
|
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile)
|
rs2278196
|
0.03742
|
|
NM_025114.4(CEP290):c.7035-38C>G
|
rs45477492
|
0.03735
|
|
NM_004993.6(ATXN3):c.891A>G (p.Gln297=)
|
rs12896583
|
0.03723
|
|
NM_201384.3(PLEC):c.718+10C>T
|
rs12545876
|
0.03717
|
|
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His)
|
rs62642465
|
0.03714
|
|
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=)
|
rs35092519
|
0.03705
|
|
NM_175914.5(HNF4A):c.135C>T (p.Ala45=)
|
rs736823
|
0.03705
|
|
NM_001753.5(CAV1):c.156C>T (p.Val52=)
|
rs10029
|
0.03703
|
|
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
|
rs16866412
|
0.03700
|
|
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val)
|
rs74772299
|
0.03697
|
|
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=)
|
rs141343442
|
0.03691
|
|
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=)
|
rs16011
|
0.03687
|
|
NM_032531.4(KIRREL3):c.568A>G (p.Ile190Val)
|
rs111418068
|
0.03684
|
|
NM_001191061.2(SLC25A22):c.412+10G>T
|
rs113091974
|
0.03661
|
|
NM_201384.3(PLEC):c.11913G>A (p.Ala3971=)
|
rs73715559
|
0.03658
|
|
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr)
|
rs58836306
|
0.03656
|
|
NM_006493.4(CLN5):c.173+8C>T
|
rs9565308
|
0.03653
|
|
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=)
|
rs2577126
|
0.03652
|
|
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_022095.4(ZNF335):c.1623C>T (p.His541=)
|
rs16990964
|
0.03634
|
|
NM_004268.5(MED17):c.1260A>G (p.Ser420=)
|
rs36120755
|
0.03633
|
|
NM_022095.4(ZNF335):c.2253+10G>T
|
rs6130977
|
0.03629
|
|
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=)
|
rs2286128
|
0.03626
|
|
NM_025114.4(CEP290):c.2368-37T>G
|
rs115837670
|
0.03623
|
|
NM_004615.4(TSPAN7):c.441C>T (p.Ser147=)
|
rs111440990
|
0.03616
|
|
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=)
|
rs17846714
|
0.03612
|
|
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr)
|
rs35227368
|
0.03610
|
|
NM_152564.5(VPS13B):c.3667-7C>T
|
rs35543295
|
0.03607
|
|
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=)
|
rs61744930
|
0.03600
|
|
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=)
|
rs8055909
|
0.03578
|
|
NM_138501.6(TECR):c.462C>A (p.Gly154=)
|
rs76484116
|
0.03573
|
|
NM_015426.5(POC1A):c.1044G>T (p.Gln348His)
|
rs35898691
|
0.03568
|
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03565
|
|
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile)
|
rs2233070
|
0.03565
|
|
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)
|
rs72677244
|
0.03561
|
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
|
NM_018344.6(SLC29A3):c.597G>A (p.Gln199=)
|
rs16928737
|
0.03555
|
|
NM_016648.4(LARP7):c.10G>A (p.Glu4Lys)
|
rs79383654
|
0.03552
|
|
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val)
|
rs72646881
|
0.03550
|
|
NM_001378778.1(MPDZ):c.4341A>G (p.Val1447=)
|
rs61753784
|
0.03540
|
|
NM_133642.5(LARGE1):c.1731-24T>C
|
rs73399532
|
0.03540
|
|
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_001267550.2(TTN):c.93901G>A (p.Val31301Ile)
|
rs67665715
|
0.03523
|
|
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=)
|
rs61738290
|
0.03522
|
|
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser)
|
rs17851503
|
0.03516
|
|
NM_006031.6(PCNT):c.720+32C>T
|
rs114224027
|
0.03510
|
|
NM_006031.6(PCNT):c.498A>G (p.Pro166=)
|
rs61735824
|
0.03505
|
|
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr)
|
rs11896637
|
0.03502
|
|
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr)
|
rs35044802
|
0.03488
|
|
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=)
|
rs12014412
|
0.03486
|
|
NM_001365088.1(SLC12A6):c.1944-26C>T
|
rs34807905
|
0.03484
|
|
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)
|
rs16866531
|
0.03468
|
|
NM_001278116.2(L1CAM):c.1268-10C>T
|
rs112841948
|
0.03467
|
|
NM_001080414.4(CCDC88C):c.1020C>T (p.His340=)
|
rs17127255
|
0.03466
|
|
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys)
|
rs16868974
|
0.03455
|
|
NM_001324144.2(ZNF41):c.374T>G (p.Ile125Arg)
|
rs17147624
|
0.03453
|
|
NM_181741.4(ORC4):c.166C>G (p.Leu56Val)
|
rs2307397
|
0.03439
|
|
NM_002206.3(ITGA7):c.824G>A (p.Arg275His)
|
rs74867235
|
0.03438
|
|
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)
|
rs16978875
|
0.03433
|
|
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=)
|
rs17001073
|
0.03431
|
|
NM_016648.4(LARP7):c.836G>A (p.Arg279Gln)
|
rs62317770
|
0.03420
|
|
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)
|
rs34180031
|
0.03419
|
|
NM_001101.5(ACTB):c.942G>A (p.Gln314=)
|
rs11546939
|
0.03418
|
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
|
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=)
|
rs35085679
|
0.03417
|
|
NM_001184.4(ATR):c.3725+18A>G
|
rs73864554
|
0.03416
|
|
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=)
|
rs10499268
|
0.03416
|
|
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=)
|
rs17104689
|
0.03409
|
|
NM_005045.4(RELN):c.7530C>T (p.Pro2510=)
|
rs2075038
|
0.03404
|
|
NM_001385161.1(MR1):c.138G>A (p.Ser46=)
|
rs3863720
|
0.03401
|
|
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro)
|
rs34151633
|
0.03401
|
|
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=)
|
rs7844645
|
0.03400
|
|
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=)
|
rs35945835
|
0.03379
|
|
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=)
|
rs945831
|
0.03378
|
|
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)
|
rs34006675
|
0.03359
|
|
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)
|
rs36014111
|
0.03348
|
|
NM_000047.3(ARSL):c.549C>T (p.Arg183=)
|
rs5982618
|
0.03335
|
|
NM_144508.5(KNL1):c.250+556G>A
|
rs8030491
|
0.03326
|
|
NM_000257.4(MYH7):c.1605A>G (p.Glu535=)
|
rs2069543
|
0.03319
|
|
NM_001083961.2(WDR62):c.562-13C>T
|
rs78138007
|
0.03315
|
|
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg)
|
rs61741470
|
0.03313
|
|
NM_005045.4(RELN):c.5351+3A>G
|
rs6967725
|
0.03307
|
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
|
NM_001083961.2(WDR62):c.4153+37C>G
|
rs58041656
|
0.03299
|
|
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=)
|
rs41275588
|
0.03299
|
|
NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala)
|
rs17766354
|
0.03286
|
|
NM_000070.3(CAPN3):c.1029+3A>G
|
rs28364442
|
0.03285
|
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
|
NM_004409.5(DMPK):c.504G>A (p.Pro168=)
|
rs34510782
|
0.03282
|
|
NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu)
|
rs57259697
|
0.03281
|
|
NM_182914.3(SYNE2):c.2409C>A (p.Ser803=)
|
rs17101525
|
0.03277
|
|
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=)
|
rs34891041
|
0.03277
|
|
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile)
|
rs59736804
|
0.03276
|
|
NM_000540.3(RYR1):c.12094+11A>G
|
rs73933018
|
0.03267
|
|
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_020999.4(NEUROG3):c.499G>A (p.Gly167Arg)
|
rs41277236
|
0.03257
|
|
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_000751.3(CHRND):c.120G>A (p.Lys40=)
|
rs55921262
|
0.03225
|
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_005271.5(GLUD1):c.1060-10T>A
|
rs17096421
|
0.03225
|
|
NM_001843.4(CNTN1):c.1956A>G (p.Ala652=)
|
rs2229930
|
0.03222
|
|
NM_000540.3(RYR1):c.9555-13C>T
|
rs2960328
|
0.03214
|
|
NM_001161352.2(KCNMA1):c.2710-8T>C
|
rs78672251
|
0.03213
|
|
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=)
|
rs17624033
|
0.03213
|
|
NM_001190417.2(ZNF674):c.1013C>T (p.Thr338Met)
|
rs61730637
|
0.03202
|
|
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_000834.5(GRIN2B):c.15G>A (p.Ala5=)
|
rs34315573
|
0.03193
|
|
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=)
|
rs1042512
|
0.03189
|
|
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala)
|
rs16961557
|
0.03157
|
|
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=)
|
rs3763073
|
0.03149
|
|
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=)
|
rs73992419
|
0.03148
|
|
NM_000334.4(SCN4A):c.4288+10G>T
|
rs114059193
|
0.03137
|
|
NM_003383.5(VLDLR):c.944-5T>C
|
rs35782329
|
0.03136
|
|
NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys)
|
rs34605667
|
0.03134
|
|
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln)
|
rs35203186
|
0.03124
|
|
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu)
|
rs8177536
|
0.03119
|
|
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)
|
rs398124605
|
0.03116
|
|
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=)
|
rs35295469
|
0.03116
|
|
NM_000540.3(RYR1):c.2871-5C>T
|
rs45585535
|
0.03110
|
|
NM_182914.3(SYNE2):c.13423-7C>G
|
rs7140414
|
0.03110
|
|
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=)
|
rs74081707
|
0.03104
|
|
NM_032119.4(ADGRV1):c.13232-7A>G
|
rs2438358
|
0.03097
|
|
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=)
|
rs61730765
|
0.03096
|
|
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=)
|
rs73750958
|
0.03087
|
|
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=)
|
rs61735805
|
0.03082
|
|
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)
|
rs6999971
|
0.03071
|
|
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met)
|
rs112318500
|
0.03069
|
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158
|
0.03068
|
|
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=)
|
rs34084388
|
0.03062
|
|
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg)
|
rs41311333
|
0.03061
|
|
NM_006493.4(CLN5):c.1041T>C (p.Pro347=)
|
rs36038805
|
0.03060
|
|
NM_000096.4(CP):c.2991T>C (p.His997=)
|
rs34394958
|
0.03057
|
|
NM_020987.5(ANK3):c.909A>C (p.Thr303=)
|
rs73269474
|
0.03053
|
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
|
NM_025000.4(DCAF17):c.555T>A (p.His185Gln)
|
rs3731984
|
0.03047
|
|
NM_001083961.2(WDR62):c.3514+44G>A
|
rs45468494
|
0.03042
|
|
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=)
|
rs45470992
|
0.03038
|
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03031
|
|
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=)
|
rs61741123
|
0.03029
|
|
NM_001324144.2(ZNF41):c.660T>G (p.Asn220Lys)
|
rs34301930
|
0.03028
|
|
NM_020320.5(RARS2):c.703G>A (p.Val235Met)
|
rs35862137
|
0.03019
|
|
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_003072.5(SMARCA4):c.1509A>G (p.Ala503=)
|
rs17001075
|
0.03015
|
|
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)
|
rs34751342
|
0.03013
|
|
NM_020987.5(ANK3):c.12769A>G (p.Ile4257Val)
|
rs12261793
|
0.03012
|
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179
|
0.03009
|
|
NM_001164508.2(NEB):c.19102-6C>T
|
rs145127681
|
0.03008
|
|
NM_014009.4(FOXP3):c.543C>T (p.Ser181=)
|
rs2232367
|
0.03006
|
|
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=)
|
rs76046880
|
0.02993
|
|
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val)
|
rs75792246
|
0.02993
|
|
NM_002693.3(POLG):c.2958C>T (p.Tyr986=)
|
rs2307431
|
0.02985
|
|
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=)
|
rs11882640
|
0.02972
|
|
NM_005573.4(LMNB1):c.432G>A (p.Ser144=)
|
rs34224885
|
0.02972
|
|
NM_198576.4(AGRN):c.261C>T (p.Asp87=)
|
rs6657048
|
0.02966
|
|
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=)
|
rs7595725
|
0.02952
|
|
NM_000330.4(RS1):c.184+3207C>T
|
rs35693326
|
0.02951
|
|
NM_198576.4(AGRN):c.2183A>T (p.Glu728Val)
|
rs113288277
|
0.02946
|
|
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=)
|
rs41313954
|
0.02943
|
|
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=)
|
rs73750949
|
0.02942
|
|
NM_018249.6(CDK5RAP2):c.3065G>A (p.Gly1022Glu)
|
rs34523498
|
0.02942
|
|
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp)
|
rs34843668
|
0.02941
|
|
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_006009.4(TUBA1A):c.510T>C (p.Ser170=)
|
rs112023543
|
0.02931
|
|
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=)
|
rs61746966
|
0.02927
|
|
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)
|
rs17355446
|
0.02915
|
|
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=)
|
rs118117962
|
0.02913
|
|
NM_020987.5(ANK3):c.2124T>C (p.Asp708=)
|
rs34552044
|
0.02906
|
|
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=)
|
rs56908561
|
0.02903
|
|
NM_006009.4(TUBA1A):c.522G>A (p.Ala174=)
|
rs61730859
|
0.02903
|
|
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=)
|
rs56691712
|
0.02899
|
|
NM_025114.4(CEP290):c.297+36A>G
|
rs45468703
|
0.02898
|
|
NM_173630.4(RTTN):c.4940+7G>A
|
rs17082039
|
0.02895
|
|
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val)
|
rs2230720
|
0.02889
|
|
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr)
|
rs11015859
|
0.02882
|
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
0.02876
|
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
|
NM_001384732.1(CPLANE1):c.94G>A (p.Val32Ile)
|
rs73750959
|
0.02866
|
|
NM_012280.4(FTSJ1):c.572-8C>T
|
rs73483894
|
0.02866
|
|
NM_004409.5(DMPK):c.456G>A (p.Val152=)
|
rs34798952
|
0.02863
|
|
NM_198525.3(KIF7):c.2043T>A (p.Val681=)
|
rs72750755
|
0.02861
|
|
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr)
|
rs17379472
|
0.02860
|
|
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=)
|
rs61735853
|
0.02858
|
|
NM_000047.3(ARSL):c.157A>G (p.Ile53Val)
|
rs61733256
|
0.02854
|
|
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu)
|
rs17722293
|
0.02854
|
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
|
NM_133444.3(ZNF526):c.1662C>T (p.Val554=)
|
rs111722832
|
0.02840
|
|
NM_001130438.3(SPTAN1):c.2872-42G>A
|
rs4307429
|
0.02839
|
|
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=)
|
rs61749601
|
0.02836
|
|
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile)
|
rs17108378
|
0.02833
|
|
NM_000540.3(RYR1):c.5112C>T (p.Gly1704=)
|
rs35352076
|
0.02832
|
|
NM_001184.4(ATR):c.5898+32A>G
|
rs11719960
|
0.02829
|
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
|
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys)
|
rs2130262
|
0.02821
|
|
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp)
|
rs34800215
|
0.02813
|
|
NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys)
|
rs73775407
|
0.02812
|
|
NM_025265.4(TSEN2):c.909+34G>A
|
rs78943415
|
0.02811
|
|
NM_001374828.1(ARID1B):c.5001G>A (p.Pro1667=)
|
rs61738955
|
0.02808
|
|
NM_004560.4(ROR2):c.1710G>A (p.Pro570=)
|
rs41277837
|
0.02804
|
|
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=)
|
rs10964525
|
0.02801
|
|
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys)
|
rs80238010
|
0.02796
|
|
NM_002024.6(FMR1):c.1737+8C>A
|
rs73606790
|
0.02792
|
|
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=)
|
rs74123254
|
0.02789
|
|
NM_004525.3(LRP2):c.7894A>G (p.Asn2632Asp)
|
rs17848169
|
0.02788
|
|
NM_020451.3(SELENON):c.981C>T (p.Arg327=)
|
rs147587542
|
0.02788
|
|
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=)
|
rs111670322
|
0.02768
|
|
NM_025009.5(CEP135):c.335G>A (p.Arg112His)
|
rs77591659
|
0.02766
|
|
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=)
|
rs2307131
|
0.02758
|
|
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)
|
rs29281
|
0.02758
|
|
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly)
|
rs3750904
|
0.02756
|
|
NM_017668.3(NDE1):c.837C>T (p.Tyr279=)
|
rs17283846
|
0.02753
|
|
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_004826.4(ECEL1):c.1797-10G>A
|
rs76290356
|
0.02730
|
|
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)
|
rs1801261
|
0.02724
|
|
NM_182961.4(SYNE1):c.26002-4A>G
|
rs77220999
|
0.02717
|
|
NM_004993.6(ATXN3):c.883A>C (p.Lys295Gln)
|
rs12896588
|
0.02716
|
|
NM_006765.4(TUSC3):c.912G>A (p.Ser304=)
|
rs17121892
|
0.02710
|
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02697
|
|
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=)
|
rs60344647
|
0.02693
|
|
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln)
|
rs76160752
|
0.02687
|
|
NM_001205254.2(OCLN):c.699G>A (p.Leu233=)
|
rs35107257
|
0.02686
|
|
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn)
|
rs35881321
|
0.02685
|
|
NM_001367721.1(CASK):c.1234-22G>A
|
rs5963260
|
0.02684
|
|
NM_001367721.1(CASK):c.1234-30G>A
|
rs5964019
|
0.02683
|
|
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=)
|
rs61729843
|
0.02678
|
|
NM_020822.3(KCNT1):c.978A>G (p.Pro326=)
|
rs61739517
|
0.02678
|
|
NM_173560.4(RFX6):c.50C>A (p.Ala17Glu)
|
rs9489056
|
0.02675
|
|
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly)
|
rs185325359
|
0.02672
|
|
NM_004369.4(COL6A3):c.882C>T (p.Phe294=)
|
rs7561625
|
0.02665
|
|
NM_004525.3(LRP2):c.12151+4T>C
|
rs17848192
|
0.02665
|
|
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp)
|
rs2233578
|
0.02654
|
|
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=)
|
rs1124894
|
0.02647
|
|
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=)
|
rs61735826
|
0.02642
|
|
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala)
|
rs17081389
|
0.02639
|
|
NM_015080.4(NRXN2):c.246G>A (p.Leu82=)
|
rs12293481
|
0.02638
|
|
NM_001082538.3(TCTN1):c.473-10T>A
|
rs12307716
|
0.02637
|
|
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val)
|
rs4790235
|
0.02635
|
|
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met)
|
rs2306914
|
0.02635
|
|
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=)
|
rs34670662
|
0.02620
|
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
|
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
|
NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=)
|
rs1805246
|
0.02603
|
|
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro)
|
rs28932179
|
0.02602
|
|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
|
NM_007254.4(PNKP):c.1189-10del
|
rs3739205
|
0.02593
|
|
NM_001164508.2(NEB):c.19732-6C>T
|
rs11894996
|
0.02589
|
|
NM_001082538.3(TCTN1):c.341+46G>T
|
rs80078413
|
0.02579
|
|
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=)
|
rs150512553
|
0.02576
|
|
NM_001904.4(CTNNB1):c.1516C>T (p.Leu506=)
|
rs3856748
|
0.02575
|
|
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=)
|
rs16887018
|
0.02568
|
|
NM_001848.3(COL6A1):c.1273-8C>T
|
rs7280215
|
0.02565
|
|
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=)
|
rs36044575
|
0.02562
|
|
NM_024596.5(MCPH1):c.2400C>T (p.Tyr800=)
|
rs7017210
|
0.02559
|
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
|
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=)
|
rs3739822
|
0.02551
|
|
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=)
|
rs117054456
|
0.02550
|
|
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=)
|
rs12008807
|
0.02548
|
|
NM_001278116.2(L1CAM):c.197+17G>A
|
rs5987174
|
0.02545
|
|
NM_001323289.2(CDKL5):c.555-19C>G
|
rs75057928
|
0.02527
|
|
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly)
|
rs4818842
|
0.02525
|
|
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_002025.4(AFF2):c.1653A>G (p.Thr551=)
|
rs16994869
|
0.02513
|
|
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=)
|
rs55776396
|
0.02513
|
|
NM_000310.4(PPT1):c.837G>C (p.Gln279His)
|
rs72937434
|
0.02506
|
|
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)
|
rs34717730
|
0.02506
|
|
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp)
|
rs34291900
|
0.02496
|
|
NM_152783.5(D2HGDH):c.292+9G>A
|
rs148813816
|
0.02496
|
|
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_000123.4(ERCC5):c.760A>G (p.Met254Val)
|
rs1047769
|
0.02485
|
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
|
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg)
|
rs75989452
|
0.02484
|
|
NM_001940.4(ATN1):c.1647G>A (p.Leu549=)
|
rs11547602
|
0.02479
|
|
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val)
|
rs61734789
|
0.02478
|
|
NM_019892.6(INPP5E):c.33C>G (p.Ser11=)
|
rs79161998
|
0.02475
|
|
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=)
|
rs3751845
|
0.02471
|
|
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile)
|
rs1800961
|
0.02469
|
|
NM_001130438.3(SPTAN1):c.1221+11C>T
|
rs113357847
|
0.02463
|
|
NM_005045.4(RELN):c.5831T>G (p.Phe1944Cys)
|
rs77664442
|
0.02460
|
|
NM_004993.6(ATXN3):c.882A>G (p.Gln294=)
|
rs12896589
|
0.02453
|
|
NM_001194998.2(CEP152):c.191+11G>A
|
rs75503597
|
0.02449
|
|
NM_002470.4(MYH3):c.5457+3G>A
|
rs200954595
|
0.02449
|
|
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro)
|
rs80132640
|
0.02449
|
|
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=)
|
rs16869039
|
0.02440
|
|
NM_001160372.4(TRAPPC9):c.3279+4C>T
|
rs79877357
|
0.02434
|
|
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)
|
rs35683768
|
0.02431
|
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
|
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln)
|
rs55865069
|
0.02422
|
|
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=)
|
rs112238216
|
0.02416
|
|
NM_003659.4(AGPS):c.207A>G (p.Ala69=)
|
rs34744592
|
0.02410
|
|
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His)
|
rs2562832
|
0.02406
|
|
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=)
|
rs11905235
|
0.02405
|
|
NM_133433.4(NIPBL):c.4561-16C>T
|
rs115403650
|
0.02404
|
|
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=)
|
rs2742329
|
0.02401
|
|
NM_001843.4(CNTN1):c.401-9C>T
|
rs57340925
|
0.02401
|
|
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=)
|
rs2273761
|
0.02399
|
|
NM_004830.4(MED23):c.3312T>C (p.Ala1104=)
|
rs77187818
|
0.02396
|
|
NM_000540.3(RYR1):c.1577-6C>G
|
rs61586345
|
0.02394
|
|
NM_025009.5(CEP135):c.2976C>G (p.Thr992=)
|
rs35143702
|
0.02394
|
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
|
NM_025009.5(CEP135):c.3075T>C (p.Asn1025=)
|
rs61753870
|
0.02389
|
|
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=)
|
rs61004744
|
0.02387
|
|
NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=)
|
rs12008084
|
0.02382
|
|
NM_014846.4(WASHC5):c.597A>G (p.Pro199=)
|
rs7812319
|
0.02380
|
|
NM_001164508.2(NEB):c.612+8T>C
|
rs113095802
|
0.02379
|
|
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)
|
rs61753944
|
0.02377
|
|
NM_005677.4(COLQ):c.1248C>T (p.Asp416=)
|
rs55866379
|
0.02373
|
|
NM_003383.5(VLDLR):c.24G>A (p.Ala8=)
|
rs34336270
|
0.02372
|
|
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
|
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)
|
rs28413664
|
0.02366
|
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02363
|
|
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn)
|
rs16844422
|
0.02362
|
|
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln)
|
rs73175207
|
0.02358
|
|
NM_201384.3(PLEC):c.10046C>T (p.Thr3349Met)
|
rs34725742
|
0.02357
|
|
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=)
|
rs2228952
|
0.02352
|
|
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)
|
rs73036398
|
0.02352
|
|
NM_001365088.1(SLC12A6):c.2042+32C>A
|
rs79436830
|
0.02352
|
|
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)
|
rs6736435
|
0.02349
|
|
NM_001077446.4(TSEN34):c.688C>A (p.Arg230=)
|
rs11879943
|
0.02345
|
|
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=)
|
rs74327115
|
0.02341
|
|
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_020320.5(RARS2):c.991A>G (p.Ile331Val)
|
rs3757370
|
0.02330
|
|
NM_020987.5(ANK3):c.402T>C (p.Asn134=)
|
rs1031688
|
0.02324
|
|
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=)
|
rs73638274
|
0.02319
|
|
NM_182914.3(SYNE2):c.12840+8T>C
|
rs145218296
|
0.02317
|
|
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=)
|
rs61746147
|
0.02316
|
|
NM_004153.4(ORC1):c.568G>A (p.Val190Met)
|
rs3087477
|
0.02312
|
|
NM_005592.4(MUSK):c.225C>T (p.Tyr75=)
|
rs56130155
|
0.02312
|
|
NM_130839.5(UBE3A):c.373T>C (p.Leu125=)
|
rs61734190
|
0.02311
|
|
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg)
|
rs7702892
|
0.02310
|
|
NM_025265.4(TSEN2):c.639T>C (p.Asp213=)
|
rs3796329
|
0.02309
|
|
NM_182914.3(SYNE2):c.12626T>C (p.Ile4209Thr)
|
rs61747118
|
0.02309
|
|
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu)
|
rs16903518
|
0.02308
|
|
NM_015107.3(PHF8):c.441T>G (p.Val147=)
|
rs148215758
|
0.02301
|
|
NM_025265.4(TSEN2):c.327G>A (p.Glu109=)
|
rs77899976
|
0.02296
|
|
NM_013339.4(ALG6):c.726C>T (p.Phe242=)
|
rs59848367
|
0.02294
|
|
NM_182914.3(SYNE2):c.13254C>A (p.Asn4418Lys)
|
rs36021513
|
0.02290
|
|
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=)
|
rs2227865
|
0.02288
|
|
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=)
|
rs12373107
|
0.02286
|
|
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=)
|
rs35313209
|
0.02285
|
|
NM_001130438.3(SPTAN1):c.1462-27T>A
|
rs7040737
|
0.02284
|
|
NM_003611.3(OFD1):c.2387+11C>T
|
rs140369491
|
0.02280
|
|
NM_001163809.2(WDR81):c.5343C>T (p.Gly1781=)
|
rs117522064
|
0.02277
|
|
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu)
|
rs2289181
|
0.02268
|
|
NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu)
|
rs114689020
|
0.02268
|
|
NM_001377405.1(ATXN7):c.2178T>C (p.Ser726=)
|
rs61736567
|
0.02265
|
|
NM_001365536.1(SCN9A):c.3802-8T>C
|
rs76550960
|
0.02262
|
|
NM_001077418.3(TMEM231):c.582+8C>G
|
rs144252983
|
0.02257
|
|
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02253
|
|
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=)
|
rs35021937
|
0.02251
|
|
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=)
|
rs61232800
|
0.02248
|
|
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly)
|
rs2303995
|
0.02242
|
|
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp)
|
rs72736758
|
0.02238
|
|
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg)
|
rs116262672
|
0.02238
|
|
NM_001164508.2(NEB):c.8466C>T (p.His2822=)
|
rs61730771
|
0.02236
|
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02232
|
|
NM_001083961.2(WDR62):c.3674G>A (p.Arg1225His)
|
rs61743589
|
0.02230
|
|
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg)
|
rs115734214
|
0.02229
|
|
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=)
|
rs61734529
|
0.02220
|
|
NM_002470.4(MYH3):c.6T>C (p.Ser2=)
|
rs17817203
|
0.02219
|
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
|
NM_020549.5(CHAT):c.1674C>T (p.Ser558=)
|
rs7073028
|
0.02218
|
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
|
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln)
|
rs74401238
|
0.02210
|
|
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)
|
rs34954751
|
0.02208
|
|
NM_018249.6(CDK5RAP2):c.3025+48G>T
|
rs74691300
|
0.02208
|
|
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val)
|
rs61733129
|
0.02206
|
|
NM_198525.3(KIF7):c.1444-4A>G
|
rs112333674
|
0.02204
|
|
NM_001080414.4(CCDC88C):c.3372G>A (p.Thr1124=)
|
rs112741231
|
0.02197
|
|
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)
|
rs73599293
|
0.02196
|
|
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)
|
rs11913417
|
0.02196
|
|
NM_182914.3(SYNE2):c.11385G>A (p.Lys3795=)
|
rs34954189
|
0.02196
|
|
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val)
|
rs34088014
|
0.02195
|
|
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=)
|
rs55847232
|
0.02188
|
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
|
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=)
|
rs2303829
|
0.02187
|
|
NM_001371623.1(TCOF1):c.2094A>G (p.Glu698=)
|
rs34796297
|
0.02187
|
|
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp)
|
rs35723243
|
0.02185
|
|
NM_020987.5(ANK3):c.11685C>T (p.Ser3895=)
|
rs7923682
|
0.02183
|
|
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr)
|
rs78247455
|
0.02182
|
|
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His)
|
rs117501809
|
0.02182
|
|
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly)
|
rs79514677
|
0.02177
|
|
NM_005592.4(MUSK):c.299C>T (p.Thr100Met)
|
rs35142681
|
0.02176
|
|
NM_182914.3(SYNE2):c.8422C>T (p.Leu2808=)
|
rs35960129
|
0.02175
|
|
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=)
|
rs58343499
|
0.02173
|
|
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=)
|
rs7279254
|
0.02172
|
|
NM_020987.5(ANK3):c.1491+6C>T
|
rs76733192
|
0.02170
|
|
NM_030665.4(RAI1):c.264G>A (p.Gln88=)
|
rs61999281
|
0.02170
|
|
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln)
|
rs34813667
|
0.02167
|
|
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=)
|
rs61745228
|
0.02162
|
|
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys)
|
rs34610829
|
0.02158
|
|
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_016553.5(NUP62):c.549G>A (p.Thr183=)
|
rs1984656
|
0.02153
|
|
NM_018451.5(CENPJ):c.187G>C (p.Asp63His)
|
rs7336216
|
0.02151
|
|
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr)
|
rs13210127
|
0.02151
|
|
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu)
|
rs3810948
|
0.02150
|
|
NM_000540.3(RYR1):c.11908-14A>G
|
rs2292799
|
0.02149
|
|
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)
|
rs4802584
|
0.02143
|
|
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)
|
rs35445420
|
0.02143
|
|
NM_018249.6(CDK5RAP2):c.1093-14G>A
|
rs75029577
|
0.02140
|
|
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile)
|
rs35230241
|
0.02138
|
|
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=)
|
rs138705766
|
0.02134
|
|
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)
|
rs55675869
|
0.02132
|
|
NM_001927.4(DES):c.1026C>T (p.Asn342=)
|
rs61731508
|
0.02125
|
|
NM_001353108.3(CEP63):c.555G>C (p.Gln185His)
|
rs114108011
|
0.02124
|
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02114
|
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
|
NM_173630.4(RTTN):c.4748-5A>G
|
rs28495061
|
0.02113
|
|
NM_133433.4(NIPBL):c.4421+7A>G
|
rs76297333
|
0.02109
|
|
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=)
|
rs2241683
|
0.02108
|
|
NM_000426.4(LAMA2):c.1533T>C (p.Asn511=)
|
rs9492266
|
0.02106
|
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
|
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=)
|
rs34340053
|
0.02105
|
|
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=)
|
rs61735821
|
0.02105
|
|
NM_020921.4(NIN):c.5509T>A (p.Ser1837Thr)
|
rs12717411
|
0.02104
|
|
NM_133433.4(NIPBL):c.4561-9T>A
|
rs79924167
|
0.02103
|
|
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_001365088.1(SLC12A6):c.2934+12G>C
|
rs11854257
|
0.02091
|
|
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=)
|
rs34941871
|
0.02088
|
|
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)
|
rs2303831
|
0.02082
|
|
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg)
|
rs2288563
|
0.02080
|
|
NM_001109809.5(ZFP57):c.593A>G (p.Asn198Ser)
|
rs9461544
|
0.02078
|
|
NM_198525.3(KIF7):c.216G>A (p.Gln72=)
|
rs113881220
|
0.02077
|
|
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)
|
rs2303607
|
0.02075
|
|
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val)
|
rs61732273
|
0.02073
|
|
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)
|
rs2303832
|
0.02072
|
|
NM_002206.3(ITGA7):c.2433-5G>A
|
rs79745402
|
0.02069
|
|
NM_000334.4(SCN4A):c.2989+5G>A
|
rs115695396
|
0.02066
|
|
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)
|
rs1800574
|
0.02065
|
|
NM_002472.3(MYH8):c.1701G>A (p.Gln567=)
|
rs73275411
|
0.02065
|
|
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val)
|
rs6739001
|
0.02064
|
|
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)
|
rs35874850
|
0.02064
|
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
|
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=)
|
rs2288566
|
0.02055
|
|
NM_001429.4(EP300):c.5061+9C>T
|
rs73176628
|
0.02054
|
|
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)
|
rs13879
|
0.02053
|
|
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=)
|
rs34491089
|
0.02052
|
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
|
NM_173630.4(RTTN):c.2856A>G (p.Leu952=)
|
rs35139926
|
0.02051
|
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
|
NM_001199107.2(TBC1D24):c.1143-6C>T
|
rs73490287
|
0.02047
|
|
NM_006059.4(LAMC3):c.92G>T (p.Arg31Leu)
|
rs116259120
|
0.02047
|
|
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=)
|
rs79391751
|
0.02044
|
|
NM_018129.4(PNPO):c.486C>G (p.Pro162=)
|
rs35974730
|
0.02044
|
|
NM_018136.5(ASPM):c.*60C>T
|
rs1537318
|
0.02044
|
|
NM_001715.3(BLK):c.258G>A (p.Gln86=)
|
rs56185487
|
0.02041
|
|
NM_005045.4(RELN):c.26A>C (p.Gln9Pro)
|
rs115165703
|
0.02037
|
|
NM_020549.5(CHAT):c.1131G>A (p.Ser377=)
|
rs115126024
|
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_018136.5(ASPM):c.-110C>T
|
rs74981632
|
0.02032
|
|
NM_001165963.4(SCN1A):c.1662+9C>A
|
rs7559148
|
0.02030
|
|
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=)
|
rs61049753
|
0.02028
|
|
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His)
|
rs61745498
|
0.02028
|
|
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=)
|
rs129974
|
0.02027
|
|
NM_000080.4(CHRNE):c.45C>T (p.Leu15=)
|
rs34563587
|
0.02026
|
|
NM_020549.5(CHAT):c.1122C>T (p.Asn374=)
|
rs61115650
|
0.02026
|
|
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met)
|
rs60078675
|
0.02025
|
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02012
|
|
NM_024334.3(TMEM43):c.909C>T (p.Ser303=)
|
rs35100587
|
0.02012
|
|
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)
|
rs35798522
|
0.02009
|
|
NM_182914.3(SYNE2):c.1296C>A (p.Ser432Arg)
|
rs35554503
|
0.02006
|
|
NM_001080414.4(CCDC88C):c.1773G>A (p.Glu591=)
|
rs7160325
|
0.02005
|
|
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=)
|
rs62620174
|
0.02004
|
|
NM_007137.5(ZNF81):c.181+8C>T
|
rs11091216
|
0.02004
|
|
NM_030928.4(CDT1):c.1610C>T (p.Ala537Val)
|
rs3218721
|
0.02004
|
|
NM_018136.5(ASPM):c.3391-14G>T
|
rs80058948
|
0.02003
|
|
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
0.01999
|
|
NM_001134407.3(GRIN2A):c.1329-8C>T
|
rs7193290
|
0.01998
|
|
NM_001267550.2(TTN):c.87669T>C (p.His29223=)
|
rs72648229
|
0.01997
|
|
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)
|
rs12621078
|
0.01996
|
|
NM_001083961.2(WDR62):c.2312A>G (p.Lys771Arg)
|
rs61747277
|
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.95047A>G (p.Ser31683Gly)
|
rs72648257
|
0.01992
|
|
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)
|
rs3731745
|
0.01991
|
|
NM_001080414.4(CCDC88C):c.1909C>G (p.Leu637Val)
|
rs7160308
|
0.01989
|
|
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser)
|
rs3813246
|
0.01989
|
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01985
|
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01984
|
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
|
NM_005333.5(HCCS):c.215C>T (p.Ala72Val)
|
rs2070163
|
0.01981
|
|
NM_001130438.3(SPTAN1):c.6708-7C>T
|
rs16930539
|
0.01980
|
|
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)
|
rs72648260
|
0.01980
|
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
|
NM_182914.3(SYNE2):c.17556+4T>C
|
rs2297301
|
0.01974
|
|
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=)
|
rs35139906
|
0.01973
|
|
NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=)
|
rs111924728
|
0.01973
|
|
NM_001321142.2(CIDEC):c.146C>T (p.Thr49Met)
|
rs61742367
|
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_004525.3(LRP2):c.6045C>T (p.Ala2015=)
|
rs34834388
|
0.01962
|
|
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=)
|
rs72851170
|
0.01961
|
|
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129
|
0.01960
|
|
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)
|
rs72648950
|
0.01956
|
|
NM_000026.4(ADSL):c.358-4G>A
|
rs113199851
|
0.01950
|
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
|
NM_001037.5(SCN1B):c.501T>C (p.Ile167=)
|
rs16969930
|
0.01942
|
|
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_153704.6(TMEM67):c.870-29A>G
|
rs116802062
|
0.01936
|
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
|
NM_001044385.3(TMEM237):c.395+7A>G
|
rs78297522
|
0.01932
|
|
NM_005045.4(RELN):c.7110T>C (p.Val2370=)
|
rs362746
|
0.01926
|
|
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=)
|
rs16940927
|
0.01924
|
|
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_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01917
|
|
NM_005120.3(MED12):c.2259G>A (p.Arg753=)
|
rs61752446
|
0.01916
|
|
NM_000079.4(CHRNA1):c.540+4G>C
|
rs112674580
|
0.01914
|
|
NM_001429.4(EP300):c.942C>T (p.Gly314=)
|
rs20553
|
0.01913
|
|
NM_014321.4(ORC6):c.675T>C (p.Asp225=)
|
rs34343511
|
0.01913
|
|
NM_017780.4(CHD7):c.2124T>C (p.Ser708=)
|
rs79302359
|
0.01911
|
|
NM_001197104.2(KMT2A):c.8961T>A (p.Thr2987=)
|
rs9332842
|
0.01910
|
|
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met)
|
rs2460169
|
0.01906
|
|
NM_004933.3(CDH15):c.153G>A (p.Pro51=)
|
rs76549400
|
0.01905
|
|
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=)
|
rs16926499
|
0.01905
|
|
NM_133433.4(NIPBL):c.4240-14T>G
|
rs298972
|
0.01903
|
|
NM_006059.4(LAMC3):c.2559C>T (p.Ser853=)
|
rs34652877
|
0.01902
|
|
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=)
|
rs75060573
|
0.01901
|
|
NM_031407.7(HUWE1):c.1448A>G (p.Asn483Ser)
|
rs41307640
|
0.01900
|
|
NM_201525.4(ADGRG1):c.1555+15G>C
|
rs75843478
|
0.01900
|
|
NM_014141.6(CNTNAP2):c.3797-6C>T
|
rs79777576
|
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_001128164.2(ATXN1):c.645G>T (p.Gln215His)
|
rs184327938
|
0.01893
|
|
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=)
|
rs115435816
|
0.01890
|
|
NM_005045.4(RELN):c.4589-8T>G
|
rs362801
|
0.01890
|
|
NM_001415.4(EIF2S3):c.1266C>T (p.Ala422=)
|
rs11548543
|
0.01884
|
|
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu)
|
rs61744585
|
0.01884
|
|
NM_001378030.1(CCDC78):c.937C>T (p.Leu313=)
|
rs61998209
|
0.01878
|
|
NM_006565.4(CTCF):c.1164C>T (p.Ser388=)
|
rs143837268
|
0.01878
|
|
NM_001374828.1(ARID1B):c.3235+21C>T
|
rs9397998
|
0.01875
|
|
NM_153252.5(BRWD3):c.813+10G>C
|
rs55824836
|
0.01875
|
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01872
|
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01865
|
|
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
|
NM_016464.5(TMEM138):c.261G>A (p.Val87=)
|
rs35245221
|
0.01861
|
|
NM_001379110.1(SLC9A6):c.744-6C>T
|
rs17001258
|
0.01856
|
|
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=)
|
rs4134932
|
0.01854
|
|
NM_020921.4(NIN):c.3459G>A (p.Arg1153=)
|
rs41310342
|
0.01853
|
|
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)
|
rs73399520
|
0.01853
|
|
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=)
|
rs74140280
|
0.01852
|
|
NM_007347.5(AP4E1):c.2905-8A>G
|
rs56813592
|
0.01851
|
|
NM_001080414.4(CCDC88C):c.3393G>T (p.Ala1131=)
|
rs73336474
|
0.01848
|
|
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=)
|
rs2303298
|
0.01844
|
|
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser)
|
rs33931006
|
0.01841
|
|
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro)
|
rs79737301
|
0.01835
|
|
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His)
|
rs17101661
|
0.01834
|
|
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=)
|
rs57902950
|
0.01833
|
|
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val)
|
rs114331773
|
0.01832
|
|
NM_018344.6(SLC29A3):c.831C>T (p.Pro277=)
|
rs61737431
|
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_001077418.3(TMEM231):c.582+3A>G
|
rs114290622
|
0.01823
|
|
NM_001384732.1(CPLANE1):c.5900+7G>T
|
rs78315844
|
0.01816
|
|
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=)
|
rs35763271
|
0.01816
|
|
NM_012232.6(CAVIN1):c.927G>A (p.Ala309=)
|
rs112332573
|
0.01816
|
|
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)
|
rs80193928
|
0.01815
|
|
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=)
|
rs3025694
|
0.01815
|
|
NM_003659.4(AGPS):c.261-5A>C
|
rs73029113
|
0.01813
|
|
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala)
|
rs76245173
|
0.01809
|
|
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr)
|
rs28932177
|
0.01809
|
|
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly)
|
rs78599355
|
0.01806
|
|
NM_018136.5(ASPM):c.2419+12G>A
|
rs77191836
|
0.01806
|
|
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala)
|
rs45491898
|
0.01804
|
|
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_014855.3(AP5Z1):c.2098G>A (p.Val700Met)
|
rs11766611
|
0.01795
|
|
NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=)
|
rs116623596
|
0.01793
|
|
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=)
|
rs35664935
|
0.01793
|
|
NM_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
|
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=)
|
rs35663732
|
0.01790
|
|
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr)
|
rs144668507
|
0.01790
|
|
NM_004525.3(LRP2):c.4344C>G (p.Ala1448=)
|
rs35297090
|
0.01784
|
|
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln)
|
rs78651634
|
0.01784
|
|
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn)
|
rs72647843
|
0.01782
|
|
NM_005198.5(CHKB):c.216C>T (p.Tyr72=)
|
rs80067609
|
0.01782
|
|
NM_000540.3(RYR1):c.12624+14C>T
|
rs75797287
|
0.01777
|
|
NM_006412.4(AGPAT2):c.317-7C>T
|
rs74584184
|
0.01776
|
|
NM_017757.3(ZNF407):c.181A>G (p.Ser61Gly)
|
rs75994611
|
0.01776
|
|
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe)
|
rs2163649
|
0.01776
|
|
NM_000070.3(CAPN3):c.78G>A (p.Pro26=)
|
rs62642519
|
0.01774
|
|
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=)
|
rs61732853
|
0.01773
|
|
NM_213599.3(ANO5):c.2259A>G (p.Ser753=)
|
rs61746201
|
0.01772
|
|
NM_021956.5(GRIK2):c.2601G>A (p.Met867Ile)
|
rs2235076
|
0.01771
|
|
NM_000430.4(PAFAH1B1):c.672-10A>C
|
rs77153143
|
0.01770
|
|
NM_001083961.2(WDR62):c.2281C>T (p.His761Tyr)
|
rs61744321
|
0.01766
|
|
NM_001184.4(ATR):c.1326A>G (p.Lys442=)
|
rs28897765
|
0.01766
|
|
NM_001267550.2(TTN):c.22611T>C (p.His7537=)
|
rs16866469
|
0.01765
|
|
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln)
|
rs35974308
|
0.01764
|
|
NM_030928.4(CDT1):c.1179G>C (p.Gly393=)
|
rs74035837
|
0.01762
|
|
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=)
|
rs56298562
|
0.01760
|
|
NM_002206.3(ITGA7):c.1617G>T (p.Gln539His)
|
rs61733963
|
0.01753
|
|
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)
|
rs16029
|
0.01749
|
|
NM_002206.3(ITGA7):c.3144G>C (p.Gly1048=)
|
rs62648071
|
0.01749
|
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
|
NM_001184.4(ATR):c.946G>A (p.Val316Ile)
|
rs28897764
|
0.01744
|
|
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr)
|
rs34521609
|
0.01742
|
|
NM_001184.4(ATR):c.1950G>A (p.Glu650=)
|
rs28910270
|
0.01739
|
|
NM_012309.5(SHANK2):c.2900A>G (p.Tyr967Cys)
|
rs62622853
|
0.01738
|
|
NM_018344.6(SLC29A3):c.304T>C (p.Tyr102His)
|
rs77339410
|
0.01738
|
|
NM_003355.3(UCP2):c.582G>A (p.Leu194=)
|
rs45600039
|
0.01735
|
|
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=)
|
rs2306220
|
0.01733
|
|
NM_000834.5(GRIN2B):c.504C>A (p.Ile168=)
|
rs36031537
|
0.01733
|
|
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=)
|
rs77280228
|
0.01731
|
|
NM_020717.5(SHROOM4):c.1627A>T (p.Thr543Ser)
|
rs61748324
|
0.01731
|
|
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu)
|
rs41270201
|
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_016302.4(CRBN):c.219C>T (p.His73=)
|
rs1045309
|
0.01725
|
|
NM_000208.4(INSR):c.653-7del
|
rs766817873
|
0.01724
|
|
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)
|
rs56027402
|
0.01724
|
|
NM_001807.6(CEL):c.353T>G (p.Leu118Arg)
|
rs113056079
|
0.01720
|
|
NM_001365088.1(SLC12A6):c.963C>T (p.Tyr321=)
|
rs35583475
|
0.01718
|
|
NM_020227.4(PRDM9):c.2368A>C (p.Asn790His)
|
rs77287813
|
0.01718
|
|
NM_017755.6(NSUN2):c.21T>C (p.Gly7=)
|
rs184594943
|
0.01714
|
|
NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg)
|
rs150359724
|
0.01713
|
|
NM_001080414.4(CCDC88C):c.3636-14C>T
|
rs112211533
|
0.01710
|
|
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=)
|
rs111305262
|
0.01710
|
|
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)
|
rs72648962
|
0.01709
|
|
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=)
|
rs75985315
|
0.01708
|
|
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=)
|
rs117002283
|
0.01707
|
|
NM_012156.2(EPB41L1):c.1869G>A (p.Thr623=)
|
rs73905303
|
0.01705
|
|
NM_020717.5(SHROOM4):c.439C>T (p.His147Tyr)
|
rs111940781
|
0.01702
|
|
NM_001429.4(EP300):c.6372C>T (p.Val2124=)
|
rs34985152
|
0.01700
|
|
NM_198904.4(GABRG2):c.354G>A (p.Ala118=)
|
rs61735412
|
0.01699
|
|
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=)
|
rs5987173
|
0.01697
|
|
NM_173630.4(RTTN):c.2055+7C>T
|
rs117843366
|
0.01697
|
|
NM_201525.4(ADGRG1):c.1338C>T (p.Ala446=)
|
rs7198790
|
0.01696
|
|
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=)
|
rs116353694
|
0.01695
|
|
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=)
|
rs2230300
|
0.01692
|
|
NM_012280.4(FTSJ1):c.495C>T (p.Leu165=)
|
rs34407506
|
0.01692
|
|
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro)
|
rs6940875
|
0.01691
|
|
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn)
|
rs35625617
|
0.01691
|
|
NM_004560.4(ROR2):c.1045C>G (p.His349Asp)
|
rs55983376
|
0.01689
|
|
NM_001378778.1(MPDZ):c.3893C>T (p.Pro1298Leu)
|
rs76115127
|
0.01687
|
|
NM_001034116.2(EIF2B4):c.729G>A (p.Pro243=)
|
rs41288829
|
0.01685
|
|
NM_030928.4(CDT1):c.*6G>C
|
rs3218723
|
0.01684
|
|
NM_006005.3(WFS1):c.2019C>T (p.Cys673=)
|
rs71524375
|
0.01683
|
|
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=)
|
rs34905593
|
0.01683
|
|
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
|
rs41287054
|
0.01682
|
|
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)
|
rs35984374
|
0.01679
|
|
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)
|
rs6889939
|
0.01679
|
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
|
NM_012232.6(CAVIN1):c.843G>A (p.Leu281=)
|
rs35648297
|
0.01677
|
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
|
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val)
|
rs79915053
|
0.01674
|
|
NM_001715.3(BLK):c.435C>T (p.Ala145=)
|
rs7836533
|
0.01672
|
|
NM_025265.4(TSEN2):c.963G>A (p.Glu321=)
|
rs17036879
|
0.01671
|
|
NM_007254.4(PNKP):c.817-47C>T
|
rs3739198
|
0.01670
|
|
NM_005002.5(NDUFA9):c.881C>T (p.Pro294Leu)
|
rs34076756
|
0.01666
|
|
NM_001378778.1(MPDZ):c.4810A>G (p.Thr1604Ala)
|
rs16930134
|
0.01664
|
|
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=)
|
rs34080459
|
0.01664
|
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01656
|
|
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val)
|
rs72648954
|
0.01649
|
|
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=)
|
rs2228599
|
0.01648
|
|
NM_001042413.2(GLIS3):c.1536C>A (p.Asp512Glu)
|
rs148199056
|
0.01645
|
|
NM_173560.4(RFX6):c.1328-10T>C
|
rs182606018
|
0.01645
|
|
NM_001184.4(ATR):c.2875G>A (p.Val959Met)
|
rs28910271
|
0.01643
|
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
|
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=)
|
rs17082422
|
0.01643
|
|
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)
|
rs62145939
|
0.01642
|
|
NM_005850.5(SF3B4):c.682T>C (p.Leu228=)
|
rs115070660
|
0.01638
|
|
NM_007327.4(GRIN1):c.2241G>C (p.Val747=)
|
rs116354349
|
0.01638
|
|
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=)
|
rs79570612
|
0.01637
|
|
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=)
|
rs28657061
|
0.01636
|
|
NM_001134831.2(AHI1):c.2624-6A>G
|
rs41288015
|
0.01635
|
|
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe)
|
rs72648270
|
0.01635
|
|
NM_001367916.1(MAGT1):c.651T>A (p.Thr217=)
|
rs61732679
|
0.01635
|
|
NM_012156.2(EPB41L1):c.2060C>T (p.Pro687Leu)
|
rs73101499
|
0.01629
|
|
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=)
|
rs61729909
|
0.01628
|
|
NM_033337.3(CAV3):c.171G>A (p.Val57=)
|
rs61147808
|
0.01628
|
|
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly)
|
rs79377186
|
0.01627
|
|
NM_201384.3(PLEC):c.6741C>T (p.Ile2247=)
|
rs62641755
|
0.01627
|
|
NM_001384732.1(CPLANE1):c.3795T>A (p.Val1265=)
|
rs74478954
|
0.01626
|
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
|
NM_022095.4(ZNF335):c.2167T>G (p.Phe723Val)
|
rs41305805
|
0.01624
|
|
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)
|
rs12115566
|
0.01621
|
|
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser)
|
rs56218010
|
0.01619
|
|
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp)
|
rs35289681
|
0.01618
|
|
NM_006790.3(MYOT):c.780G>A (p.Ser260=)
|
rs116773838
|
0.01617
|
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01611
|
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
|
NM_000552.5(VWF):c.5049A>C (p.Ala1683=)
|
rs79275181
|
0.01607
|
|
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=)
|
rs79656636
|
0.01606
|
|
NM_004826.4(ECEL1):c.1995C>T (p.Asn665=)
|
rs61731716
|
0.01605
|
|
NM_182961.4(SYNE1):c.19989T>C (p.His6663=)
|
rs61746395
|
0.01595
|
|
NM_000070.3(CAPN3):c.1355-6G>A
|
rs28364485
|
0.01593
|
|
NM_000383.4(AIRE):c.1096-9G>C
|
rs113512196
|
0.01593
|
|
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=)
|
rs142518033
|
0.01592
|
|
NM_212550.5(BLOC1S3):c.366C>T (p.His122=)
|
rs571269735
|
0.01592
|
|
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr)
|
rs2922828
|
0.01586
|
|
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu)
|
rs34934920
|
0.01583
|
|
NM_001009894.3(RLIG1):c.*1014A>G
|
rs45613639
|
0.01581
|
|
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His)
|
rs8192556
|
0.01580
|
|
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu)
|
rs3087414
|
0.01577
|
|
NM_001321142.2(CIDEC):c.181T>C (p.Tyr61His)
|
rs79419480
|
0.01577
|
|
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr)
|
rs61735812
|
0.01575
|
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
|
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly)
|
rs9332745
|
0.01573
|
|
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=)
|
rs59081944
|
0.01571
|
|
NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=)
|
rs112569418
|
0.01571
|
|
NM_198576.4(AGRN):c.4740C>T (p.Arg1580=)
|
rs115019873
|
0.01570
|
|
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)
|
rs2230158
|
0.01567
|
|
NM_020921.4(NIN):c.819C>T (p.Phe273=)
|
rs61755581
|
0.01567
|
|
NM_001254.4(CDC6):c.883G>A (p.Asp295Asn)
|
rs4135012
|
0.01566
|
|
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_001194998.2(CEP152):c.4299T>C (p.His1433=)
|
rs114085678
|
0.01559
|
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
|
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=)
|
rs3750333
|
0.01558
|
|
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His)
|
rs11549840
|
0.01556
|
|
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser)
|
rs77121899
|
0.01555
|
|
NM_018943.3(TUBA8):c.816C>T (p.Tyr272=)
|
rs2234332
|
0.01553
|
|
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=)
|
rs117666541
|
0.01551
|
|
NM_012301.4(MAGI2):c.1755C>T (p.Pro585=)
|
rs34937835
|
0.01550
|
|
NM_001429.4(EP300):c.3426C>T (p.Cys1142=)
|
rs76268515
|
0.01549
|
|
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser)
|
rs16909747
|
0.01549
|
|
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val)
|
rs12481791
|
0.01548
|
|
NM_020549.5(CHAT):c.903T>C (p.Pro301=)
|
rs113897064
|
0.01548
|
|
NM_001378778.1(MPDZ):c.2104G>A (p.Glu702Lys)
|
rs4741289
|
0.01547
|
|
NM_001378778.1(MPDZ):c.2105A>T (p.Glu702Val)
|
rs4740548
|
0.01546
|
|
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=)
|
rs61735810
|
0.01545
|
|
NM_020987.5(ANK3):c.8988G>C (p.Gln2996His)
|
rs41274672
|
0.01542
|
|
NM_001080414.4(CCDC88C):c.2432C>A (p.Ala811Glu)
|
rs17127223
|
0.01535
|
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
|
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=)
|
rs61729627
|
0.01533
|
|
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala)
|
rs16903425
|
0.01529
|
|
NM_004525.3(LRP2):c.11759-5T>G
|
rs76488092
|
0.01524
|
|
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=)
|
rs16869083
|
0.01524
|
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
|
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=)
|
rs28437296
|
0.01520
|
|
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)
|
rs66523653
|
0.01518
|
|
NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu)
|
rs34870395
|
0.01518
|
|
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys)
|
rs118096349
|
0.01517
|
|
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=)
|
rs79597785
|
0.01517
|
|
NM_001384732.1(CPLANE1):c.5571-40C>G
|
rs10472284
|
0.01515
|
|
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val)
|
rs77138363
|
0.01515
|
|
NM_001458.5(FLNC):c.1374C>T (p.Pro458=)
|
rs115140972
|
0.01514
|
|
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg)
|
rs61249253
|
0.01514
|
|
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala)
|
rs79572771
|
0.01514
|
|
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile)
|
rs62624968
|
0.01513
|
|
NM_006306.4(SMC1A):c.412-10C>T
|
rs149219651
|
0.01511
|
|
NM_002025.4(AFF2):c.3837G>A (p.Thr1279=)
|
rs61743576
|
0.01510
|
|
NM_144508.5(KNL1):c.727A>G (p.Ile243Val)
|
rs76371152
|
0.01510
|
|
NM_001080414.4(CCDC88C):c.5948G>C (p.Gly1983Ala)
|
rs45542736
|
0.01509
|
|
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=)
|
rs41298498
|
0.01502
|
|
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_018026.4(PACS1):c.102G>A (p.Pro34=)
|
rs75352646
|
0.01498
|
|
NM_144508.5(KNL1):c.4931A>G (p.Lys1644Arg)
|
rs76098847
|
0.01498
|
|
NM_003659.4(AGPS):c.1173C>G (p.Gly391=)
|
rs115580413
|
0.01496
|
|
NM_006005.3(WFS1):c.2469C>T (p.Ile823=)
|
rs1801215
|
0.01494
|
|
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=)
|
rs61735820
|
0.01494
|
|
NM_001267550.2(TTN):c.2781A>C (p.Thr927=)
|
rs55892860
|
0.01493
|
|
NM_031407.7(HUWE1):c.8694G>A (p.Ala2898=)
|
rs61742949
|
0.01493
|
|
NM_152564.5(VPS13B):c.9330+10T>A
|
rs75904081
|
0.01493
|
|
NM_173630.4(RTTN):c.4850T>C (p.Met1617Thr)
|
rs35409908
|
0.01493
|
|
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala)
|
rs3025962
|
0.01491
|
|
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile)
|
rs11570605
|
0.01488
|
|
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=)
|
rs28514632
|
0.01487
|
|
NM_015192.4(PLCB1):c.924A>G (p.Ser308=)
|
rs6056003
|
0.01487
|
|
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile)
|
rs73302195
|
0.01486
|
|
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=)
|
rs61741688
|
0.01485
|
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
|
NM_207346.3(TSEN54):c.624-9G>A
|
rs138719855
|
0.01485
|
|
NM_032322.4(RNF135):c.344G>A (p.Arg115Lys)
|
rs111902263
|
0.01483
|
|
NM_012156.2(EPB41L1):c.555A>G (p.Glu185=)
|
rs116334224
|
0.01482
|
|
NM_018026.4(PACS1):c.2061T>A (p.Ser687=)
|
rs572697
|
0.01482
|
|
NM_000426.4(LAMA2):c.6234A>G (p.Lys2078=)
|
rs56920166
|
0.01481
|
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
|
NM_002693.3(POLG):c.128A>G (p.Gln43Arg)
|
rs28567406
|
0.01478
|
|
NM_020921.4(NIN):c.1728G>A (p.Pro576=)
|
rs61755036
|
0.01477
|
|
NM_024301.5(FKRP):c.192C>T (p.Pro64=)
|
rs111754012
|
0.01474
|
|
NM_025009.5(CEP135):c.1220G>A (p.Ser407Asn)
|
rs62641664
|
0.01474
|
|
NM_001278116.2(L1CAM):c.1704-14C>T
|
rs140240430
|
0.01472
|
|
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln)
|
rs3135103
|
0.01472
|
|
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=)
|
rs34217273
|
0.01468
|
|
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)
|
rs114201291
|
0.01466
|
|
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=)
|
rs28379666
|
0.01465
|
|
NM_133642.5(LARGE1):c.165G>C (p.Thr55=)
|
rs63446460
|
0.01465
|
|
NM_173630.4(RTTN):c.2886-9A>G
|
rs75225724
|
0.01465
|
|
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)
|
rs58909326
|
0.01464
|
|
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=)
|
rs56912014
|
0.01464
|
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
|
NM_018136.5(ASPM):c.2307A>G (p.Ala769=)
|
rs35897746
|
0.01457
|
|
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val)
|
rs17318151
|
0.01456
|
|
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)
|
rs56307213
|
0.01455
|
|
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly)
|
rs6428388
|
0.01455
|
|
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met)
|
rs113513807
|
0.01455
|
|
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=)
|
rs61745362
|
0.01450
|
|
NM_004826.4(ECEL1):c.1267G>C (p.Glu423Gln)
|
rs41265123
|
0.01449
|
|
NM_000096.4(CP):c.1099C>T (p.Arg367Cys)
|
rs34624984
|
0.01447
|
|
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile)
|
rs61731383
|
0.01447
|
|
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)
|
rs7140196
|
0.01445
|
|
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=)
|
rs2228614
|
0.01444
|
|
NM_020987.5(ANK3):c.7140C>T (p.His2380=)
|
rs3802696
|
0.01444
|
|
NM_024596.5(MCPH1):c.23-15A>G
|
rs146351889
|
0.01440
|
|
NM_004056.6(CA8):c.66A>G (p.Glu22=)
|
rs115885226
|
0.01439
|
|
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)
|
rs35242963
|
0.01438
|
|
NM_015192.4(PLCB1):c.2199G>A (p.Val733=)
|
rs8118206
|
0.01438
|
|
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=)
|
rs74714098
|
0.01437
|
|
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=)
|
rs7971022
|
0.01436
|
|
NM_015355.4(SUZ12):c.274+8T>C
|
rs201453847
|
0.01436
|
|
NM_020921.4(NIN):c.2651A>G (p.Lys884Arg)
|
rs41299191
|
0.01436
|
|
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=)
|
rs17117879
|
0.01435
|
|
NM_006005.3(WFS1):c.9C>T (p.Ser3=)
|
rs71524363
|
0.01435
|
|
NM_006950.3(SYN1):c.912C>T (p.Ala304=)
|
rs62636605
|
0.01433
|
|
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp)
|
rs16844470
|
0.01433
|
|
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln)
|
rs28526657
|
0.01433
|
|
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)
|
rs35740585
|
0.01429
|
|
NM_020822.3(KCNT1):c.2943+6C>T
|
rs28612938
|
0.01429
|
|
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=)
|
rs13356183
|
0.01427
|
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
|
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)
|
rs116297894
|
0.01425
|
|
NM_006059.4(LAMC3):c.-2C>T
|
rs137883250
|
0.01424
|
|
NM_173660.5(DOK7):c.1317C>T (p.Ser439=)
|
rs16844467
|
0.01424
|
|
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=)
|
rs16044
|
0.01420
|
|
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser)
|
rs55859130
|
0.01420
|
|
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=)
|
rs55757622
|
0.01419
|
|
NM_000257.4(MYH7):c.1002C>T (p.Asn334=)
|
rs34803781
|
0.01418
|
|
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_000747.3(CHRNB1):c.821-9C>T
|
rs76001008
|
0.01413
|
|
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser)
|
rs16851307
|
0.01408
|
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
|
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=)
|
rs16983426
|
0.01400
|
|
NM_000026.4(ADSL):c.440A>T (p.Lys147Met)
|
rs11089991
|
0.01397
|
|
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=)
|
rs149573400
|
0.01397
|
|
NM_001080414.4(CCDC88C):c.809+11G>A
|
rs115661164
|
0.01394
|
|
NM_005271.5(GLUD1):c.342T>C (p.His114=)
|
rs142544510
|
0.01392
|
|
NM_024824.5(ZC3H14):c.432-3T>C
|
rs77755006
|
0.01392
|
|
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)
|
rs36043230
|
0.01390
|
|
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=)
|
rs41303346
|
0.01390
|
|
NM_153704.6(TMEM67):c.1288+46C>T
|
rs73694952
|
0.01390
|
|
NM_001384732.1(CPLANE1):c.8664-3A>T
|
rs58401892
|
0.01389
|
|
NM_004560.4(ROR2):c.75G>A (p.Leu25=)
|
rs148237260
|
0.01389
|
|
NM_025265.4(TSEN2):c.1350G>A (p.Leu450=)
|
rs116627250
|
0.01389
|
|
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=)
|
rs79705634
|
0.01389
|
|
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_024596.5(MCPH1):c.1719C>T (p.Ser573=)
|
rs35551093
|
0.01384
|
|
NM_018136.5(ASPM):c.2751C>T (p.Ala917=)
|
rs33987824
|
0.01382
|
|
NM_000048.4(ASL):c.1164C>T (p.His388=)
|
rs75300185
|
0.01380
|
|
NM_006662.3(SRCAP):c.7263C>A (p.Arg2421=)
|
rs74947321
|
0.01380
|
|
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=)
|
rs77393809
|
0.01379
|
|
NM_000047.3(ARSL):c.548G>A (p.Arg183His)
|
rs34412194
|
0.01378
|
|
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_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
|
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=)
|
rs80225158
|
0.01377
|
|
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=)
|
rs28610521
|
0.01376
|
|
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)
|
rs60824529
|
0.01375
|
|
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val)
|
rs3087476
|
0.01375
|
|
NM_000540.3(RYR1):c.7835+7C>T
|
rs114522234
|
0.01374
|
|
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=)
|
rs73714404
|
0.01371
|
|
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile)
|
rs149025191
|
0.01369
|
|
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=)
|
rs12301486
|
0.01369
|
|
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys)
|
rs11549839
|
0.01367
|
|
NM_003036.4(SKI):c.99C>G (p.Gly33=)
|
rs200019352
|
0.01364
|
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
|
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp)
|
rs144662042
|
0.01362
|
|
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=)
|
rs73302197
|
0.01361
|
|
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=)
|
rs76894284
|
0.01359
|
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
|
NM_003355.3(UCP2):c.750C>T (p.Tyr250=)
|
rs45526034
|
0.01354
|
|
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=)
|
rs533485167
|
0.01351
|
|
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile)
|
rs16866457
|
0.01351
|
|
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=)
|
rs74667788
|
0.01349
|
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
|
NM_019892.6(INPP5E):c.981C>T (p.Ala327=)
|
rs35498378
|
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_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
|
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=)
|
rs34630198
|
0.01334
|
|
NM_004456.5(EZH2):c.1017T>C (p.Phe339=)
|
rs77051363
|
0.01331
|
|
NM_153033.5(KCTD7):c.654C>T (p.Asp218=)
|
rs117194263
|
0.01331
|
|
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met)
|
rs114508894
|
0.01330
|
|
NM_000352.6(ABCC8):c.4120-19C>T
|
rs1800853
|
0.01325
|
|
NM_173560.4(RFX6):c.2166C>T (p.Thr722=)
|
rs73765886
|
0.01325
|
|
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)
|
rs4369876
|
0.01322
|
|
NM_173560.4(RFX6):c.1327C>T (p.His443Tyr)
|
rs77146142
|
0.01320
|
|
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu)
|
rs150552608
|
0.01319
|
|
NM_020921.4(NIN):c.5075G>A (p.Cys1692Tyr)
|
rs75544578
|
0.01319
|
|
NM_001032221.6(STXBP1):c.38-3T>C
|
rs138763389
|
0.01315
|
|
NM_018249.6(CDK5RAP2):c.880-7A>G
|
rs76132121
|
0.01314
|
|
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)
|
rs3729816
|
0.01311
|
|
NM_020320.5(RARS2):c.63A>G (p.Pro21=)
|
rs7748563
|
0.01309
|
|
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=)
|
rs114294066
|
0.01308
|
|
NM_001267550.2(TTN):c.2949C>T (p.Ile983=)
|
rs56310516
|
0.01308
|
|
NM_012309.5(SHANK2):c.4461C>T (p.Ala1487=)
|
rs143595073
|
0.01308
|
|
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn)
|
rs8178991
|
0.01308
|
|
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=)
|
rs78196225
|
0.01307
|
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01305
|
|
NM_000352.6(ABCC8):c.3329+6C>T
|
rs113873225
|
0.01304
|
|
NM_020921.4(NIN):c.4866A>C (p.Glu1622Asp)
|
rs77959782
|
0.01304
|
|
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)
|
rs116758271
|
0.01300
|
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
|
NM_152783.5(D2HGDH):c.293-23A>T
|
rs145731647
|
0.01298
|
|
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=)
|
rs80143277
|
0.01298
|
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
|
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)
|
rs16866475
|
0.01294
|
|
NM_003072.5(SMARCA4):c.1419+8C>T
|
rs115492175
|
0.01292
|
|
NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr)
|
rs6859950
|
0.01291
|
|
NM_005249.5(FOXG1):c.*13C>A
|
rs151157846
|
0.01290
|
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
|
NM_201384.3(PLEC):c.2217G>A (p.Gln739=)
|
rs116612406
|
0.01288
|
|
NM_004933.3(CDH15):c.615C>T (p.Asp205=)
|
rs148424541
|
0.01282
|
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01280
|
|
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=)
|
rs143940595
|
0.01280
|
|
NM_002768.5(CHMP1A):c.382-8G>T
|
rs116634240
|
0.01279
|
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
|
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser)
|
rs55894265
|
0.01275
|
|
NM_006059.4(LAMC3):c.4561T>G (p.Ser1521Ala)
|
rs117361076
|
0.01275
|
|
NM_020207.7(ERCC6L2):c.2811A>G (p.Val937=)
|
rs41281212
|
0.01274
|
|
NM_000077.5(CDKN2A):c.-25C>T
|
rs144481587
|
0.01273
|
|
NM_002470.4(MYH3):c.699C>T (p.Asn233=)
|
rs16943604
|
0.01272
|
|
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)
|
rs149861153
|
0.01269
|
|
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=)
|
rs77972211
|
0.01269
|
|
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)
|
rs3759874
|
0.01269
|
|
NM_201384.3(PLEC):c.1374C>T (p.Thr458=)
|
rs115081018
|
0.01267
|
|
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_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala)
|
rs35889149
|
0.01262
|
|
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala)
|
rs33972295
|
0.01261
|
|
NM_178012.5(TUBB2B):c.718C>T (p.Leu240=)
|
rs199547345
|
0.01260
|
|
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_000742.4(CHRNA2):c.771C>T (p.Tyr257=)
|
rs56229264
|
0.01257
|
|
NM_000208.4(INSR):c.653-9del
|
rs754360103
|
0.01255
|
|
NM_001110556.2(FLNA):c.4598+8G>C
|
rs112379782
|
0.01252
|
|
NM_019892.6(INPP5E):c.636C>A (p.Val212=)
|
rs34071122
|
0.01252
|
|
NM_002472.3(MYH8):c.4233C>T (p.Asn1411=)
|
rs138992963
|
0.01251
|
|
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg)
|
rs36044314
|
0.01250
|
|
NM_001904.4(CTNNB1):c.2340C>T (p.Asp780=)
|
rs2293303
|
0.01246
|
|
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met)
|
rs61744696
|
0.01246
|
|
NM_031407.7(HUWE1):c.6031-4T>A
|
rs139283158
|
0.01245
|
|
NM_002470.4(MYH3):c.3009G>A (p.Ala1003=)
|
rs61735353
|
0.01244
|
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
|
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=)
|
rs41304884
|
0.01242
|
|
NM_000096.4(CP):c.2378G>A (p.Arg793His)
|
rs115552500
|
0.01239
|
|
NM_000303.3(PMM2):c.324G>A (p.Ala108=)
|
rs62031146
|
0.01239
|
|
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=)
|
rs61733017
|
0.01238
|
|
NM_005045.4(RELN):c.6671+8T>C
|
rs362758
|
0.01237
|
|
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)
|
rs117195541
|
0.01237
|
|
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His)
|
rs145911138
|
0.01237
|
|
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)
|
rs34555492
|
0.01234
|
|
NM_006950.3(SYN1):c.838-8T>G
|
rs12394306
|
0.01234
|
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
|
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)
|
rs35019869
|
0.01231
|
|
NM_182914.3(SYNE2):c.13266G>A (p.Gln4422=)
|
rs34944385
|
0.01230
|
|
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)
|
rs55876273
|
0.01228
|
|
NM_001330574.2(ZNF711):c.798A>G (p.Thr266=)
|
rs72549428
|
0.01228
|
|
NM_006031.6(PCNT):c.4962+10G>A
|
rs114474454
|
0.01225
|
|
NM_001164508.2(NEB):c.3775-6T>C
|
rs80232472
|
0.01222
|
|
NM_001909.5(CTSD):c.189C>T (p.Thr63=)
|
rs114051835
|
0.01221
|
|
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=)
|
rs34778200
|
0.01220
|
|
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)
|
rs16012
|
0.01217
|
|
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr)
|
rs11137198
|
0.01217
|
|
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)
|
rs1800124
|
0.01216
|
|
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)
|
rs41276894
|
0.01215
|
|
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr)
|
rs115640958
|
0.01215
|
|
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)
|
rs72629779
|
0.01213
|
|
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile)
|
rs75130619
|
0.01213
|
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01212
|
|
NM_003619.4(PRSS12):c.1272T>G (p.Val424=)
|
rs2292598
|
0.01208
|
|
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=)
|
rs114169102
|
0.01206
|
|
NM_007137.5(ZNF81):c.8C>T (p.Ala3Val)
|
rs183846665
|
0.01206
|
|
NM_018451.5(CENPJ):c.287A>G (p.His96Arg)
|
rs61739263
|
0.01206
|
|
NM_002693.3(POLG):c.2254C>T (p.Leu752=)
|
rs41564016
|
0.01204
|
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
|
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=)
|
rs35808744
|
0.01201
|
|
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr)
|
rs115969845
|
0.01198
|
|
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=)
|
rs8132678
|
0.01197
|
|
NM_198576.4(AGRN):c.3570C>T (p.Arg1190=)
|
rs75361935
|
0.01197
|
|
NM_182914.3(SYNE2):c.15794T>C (p.Val5265Ala)
|
rs142660236
|
0.01196
|
|
NM_001267550.2(TTN):c.1003G>A (p.Val335Met)
|
rs72647846
|
0.01195
|
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
|
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser)
|
rs16830236
|
0.01192
|
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
0.01192
|
|
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp)
|
rs41268685
|
0.01191
|
|
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=)
|
rs115369860
|
0.01189
|
|
NM_198525.3(KIF7):c.2481C>T (p.Asn827=)
|
rs35837280
|
0.01186
|
|
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile)
|
rs72650028
|
0.01184
|
|
NM_012156.2(EPB41L1):c.873+7C>G
|
rs111572179
|
0.01182
|
|
NM_173630.4(RTTN):c.1665C>A (p.Asn555Lys)
|
rs34353615
|
0.01182
|
|
NM_173630.4(RTTN):c.1842A>G (p.Glu614=)
|
rs140245773
|
0.01182
|
|
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)
|
rs73419228
|
0.01181
|
|
NM_007137.5(ZNF81):c.350G>T (p.Gly117Val)
|
rs17147793
|
0.01180
|
|
NM_173630.4(RTTN):c.5060C>G (p.Ser1687Cys)
|
rs34717557
|
0.01180
|
|
NM_031407.7(HUWE1):c.99A>G (p.Gln33=)
|
rs61743595
|
0.01179
|
|
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)
|
rs74203920
|
0.01176
|
|
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu)
|
rs55689103
|
0.01176
|
|
NM_173630.4(RTTN):c.1008-4G>T
|
rs151203272
|
0.01176
|
|
NM_031407.7(HUWE1):c.5716+5G>A
|
rs139135300
|
0.01175
|
|
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly)
|
rs35763277
|
0.01174
|
|
NM_004268.5(MED17):c.1482A>G (p.Gln494=)
|
rs34380494
|
0.01172
|
|
NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu)
|
rs12689863
|
0.01172
|
|
NM_001267550.2(TTN):c.1398+8C>T
|
rs72647848
|
0.01171
|
|
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu)
|
rs115857753
|
0.01168
|
|
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=)
|
rs77070978
|
0.01166
|
|
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln)
|
rs75933366
|
0.01162
|
|
NM_001614.5(ACTG1):c.177G>A (p.Gln59=)
|
rs11549220
|
0.01161
|
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
|
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)
|
rs144557371
|
0.01150
|
|
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)
|
rs55880440
|
0.01150
|
|
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=)
|
rs4494798
|
0.01150
|
|
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_025099.6(CTC1):c.1383G>A (p.Gln461=)
|
rs145192682
|
0.01148
|
|
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly)
|
rs140448154
|
0.01146
|
|
NM_004933.3(CDH15):c.171C>T (p.Asn57=)
|
rs148798647
|
0.01145
|
|
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile)
|
rs114036100
|
0.01144
|
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
|
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=)
|
rs115275192
|
0.01140
|
|
NM_003482.4(KMT2D):c.8047-15C>T
|
rs202244933
|
0.01140
|
|
NM_005045.4(RELN):c.9714C>T (p.His3238=)
|
rs78218774
|
0.01139
|
|
NM_018941.4(CLN8):c.274C>T (p.His92Tyr)
|
rs34030778
|
0.01138
|
|
NM_003482.4(KMT2D):c.5976G>A (p.Glu1992=)
|
rs77794669
|
0.01137
|
|
NM_025009.5(CEP135):c.1675G>A (p.Ala559Thr)
|
rs115701891
|
0.01137
|
|
NM_019892.6(INPP5E):c.531C>A (p.Ala177=)
|
rs58206296
|
0.01135
|
|
NM_016302.4(CRBN):c.377+13A>C
|
rs115124101
|
0.01134
|
|
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile)
|
rs35791889
|
0.01134
|
|
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=)
|
rs77791584
|
0.01133
|
|
NM_007137.5(ZNF81):c.18C>T (p.Asp6=)
|
rs145478020
|
0.01132
|
|
NM_016302.4(CRBN):c.175-5T>A
|
rs151039737
|
0.01132
|
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
|
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile)
|
rs34368668
|
0.01129
|
|
NM_001101.5(ACTB):c.1023C>T (p.Ile341=)
|
rs58704474
|
0.01128
|
|
NM_000489.6(ATRX):c.288A>G (p.Lys96=)
|
rs45574238
|
0.01127
|
|
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr)
|
rs111033530
|
0.01127
|
|
NM_004782.4(SNAP29):c.-8C>G
|
rs186825747
|
0.01122
|
|
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=)
|
rs55960450
|
0.01121
|
|
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_001164508.2(NEB):c.3147+5G>A
|
rs74859201
|
0.01118
|
|
NM_198576.4(AGRN):c.2025C>G (p.Gly675=)
|
rs28484890
|
0.01118
|
|
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=)
|
rs117306121
|
0.01118
|
|
NM_001164508.2(NEB):c.5772C>T (p.Tyr1924=)
|
rs77547727
|
0.01117
|
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
|
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp)
|
rs76658745
|
0.01115
|
|
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=)
|
rs73377210
|
0.01114
|
|
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=)
|
rs35125534
|
0.01112
|
|
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp)
|
rs190887884
|
0.01112
|
|
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)
|
rs117217073
|
0.01112
|
|
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)
|
rs189089167
|
0.01110
|
|
NM_004959.5(NR5A1):c.516C>T (p.Ala172=)
|
rs113506523
|
0.01105
|
|
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala)
|
rs35154632
|
0.01104
|
|
NM_002168.4(IDH2):c.993G>A (p.Thr331=)
|
rs61737002
|
0.01104
|
|
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met)
|
rs78733601
|
0.01102
|
|
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=)
|
rs6711223
|
0.01102
|
|
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)
|
rs187930476
|
0.01101
|
|
NM_018136.5(ASPM):c.2805T>C (p.Ser935=)
|
rs113161395
|
0.01101
|
|
NM_032119.4(ADGRV1):c.7945+6C>T
|
rs139278305
|
0.01100
|
|
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
|
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)
|
rs115466046
|
0.01096
|
|
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu)
|
rs73569515
|
0.01096
|
|
NM_020320.5(RARS2):c.606C>T (p.Leu202=)
|
rs75794097
|
0.01095
|
|
NM_198576.4(AGRN):c.2406C>T (p.Gly802=)
|
rs75774767
|
0.01095
|
|
NM_213622.4(STAMBP):c.921G>T (p.Gly307=)
|
rs77000353
|
0.01095
|
|
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=)
|
rs116951119
|
0.01094
|
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
|
NM_004456.5(EZH2):c.1731G>A (p.Pro577=)
|
rs41277437
|
0.01093
|
|
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_001278116.2(L1CAM):c.2872C>G (p.Leu958Val)
|
rs35902890
|
0.01086
|
|
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=)
|
rs62426382
|
0.01086
|
|
NM_001110556.2(FLNA):c.869-7C>T
|
rs143311779
|
0.01084
|
|
NM_032531.4(KIRREL3):c.2151C>T (p.Ser717=)
|
rs34844660
|
0.01083
|
|
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln)
|
rs147838690
|
0.01083
|
|
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
|
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=)
|
rs150830358
|
0.01081
|
|
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr)
|
rs3087483
|
0.01081
|
|
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn)
|
rs3739186
|
0.01081
|
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
|
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)
|
rs67254537
|
0.01080
|
|
NM_020987.5(ANK3):c.382A>G (p.Thr128Ala)
|
rs114937210
|
0.01080
|
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
|
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)
|
rs66961115
|
0.01079
|
|
NM_001134831.2(AHI1):c.804A>C (p.Ser268=)
|
rs35528530
|
0.01078
|
|
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys)
|
rs114901298
|
0.01077
|
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
|
NM_004187.5(KDM5C):c.564G>A (p.Lys188=)
|
rs61751437
|
0.01076
|
|
NM_016219.5(MAN1B1):c.1255-5C>T
|
rs73569532
|
0.01076
|
|
NM_001164508.2(NEB):c.5763+4C>T
|
rs78916288
|
0.01075
|
|
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=)
|
rs61732849
|
0.01075
|
|
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=)
|
rs56277715
|
0.01073
|
|
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=)
|
rs73018799
|
0.01072
|
|
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)
|
rs114771537
|
0.01071
|
|
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln)
|
rs141930814
|
0.01071
|
|
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)
|
rs35433555
|
0.01070
|
|
NM_173660.5(DOK7):c.782G>A (p.Arg261His)
|
rs16844460
|
0.01070
|
|
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser)
|
rs1805069
|
0.01068
|
|
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=)
|
rs76224028
|
0.01067
|
|
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe)
|
rs78008536
|
0.01065
|
|
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala)
|
rs35261863
|
0.01065
|
|
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=)
|
rs114682382
|
0.01064
|
|
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=)
|
rs73970129
|
0.01063
|
|
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)
|
rs41292143
|
0.01062
|
|
NM_017757.3(ZNF407):c.1077A>G (p.Val359=)
|
rs77148611
|
0.01062
|
|
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)
|
rs113155945
|
0.01061
|
|
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)
|
rs115852080
|
0.01060
|
|
NM_005431.2(XRCC2):c.40-10C>T
|
rs3218472
|
0.01055
|
|
NM_001429.4(EP300):c.2019T>C (p.Pro673=)
|
rs2230110
|
0.01054
|
|
NM_031466.8(TRAPPC9):c.-11+10G>A
|
rs117206975
|
0.01054
|
|
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)
|
rs16019
|
0.01053
|
|
NM_006059.4(LAMC3):c.1792G>A (p.Gly598Arg)
|
rs116422150
|
0.01053
|
|
NM_006279.5(ST3GAL3):c.398-7T>C
|
rs114112844
|
0.01051
|
|
NM_198576.4(AGRN):c.4452C>T (p.Thr1484=)
|
rs75767981
|
0.01049
|
|
NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=)
|
rs75469760
|
0.01048
|
|
NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn)
|
rs59648663
|
0.01046
|
|
NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr)
|
rs144081819
|
0.01045
|
|
NM_004714.3(DYRK1B):c.521-9C>T
|
rs76318664
|
0.01045
|
|
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)
|
rs76576806
|
0.01043
|
|
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=)
|
rs73959261
|
0.01043
|
|
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)
|
rs34397615
|
0.01042
|
|
NM_000747.3(CHRNB1):c.1259T>C (p.Ile420Thr)
|
rs76927517
|
0.01042
|
|
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)
|
rs719202
|
0.01042
|
|
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)
|
rs35198096
|
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_001077365.2(POMT1):c.1479C>T (p.Tyr493=)
|
rs62636653
|
0.01037
|
|
NM_001184.4(ATR):c.891G>C (p.Lys297Asn)
|
rs2229033
|
0.01036
|
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
|
NM_002834.5(PTPN11):c.525+12G>C
|
rs41304351
|
0.01035
|
|
NM_001130969.3(NSMF):c.1237-9T>C
|
rs112888704
|
0.01034
|
|
NM_001184.4(ATR):c.4002G>A (p.Gln1334=)
|
rs56026468
|
0.01034
|
|
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)
|
rs140192268
|
0.01034
|
|
NM_025009.5(CEP135):c.2724A>G (p.Arg908=)
|
rs113687114
|
0.01034
|
|
NM_001194998.2(CEP152):c.1577+6G>A
|
rs78525896
|
0.01033
|
|
NM_003659.4(AGPS):c.147C>T (p.Pro49=)
|
rs34442536
|
0.01033
|
|
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)
|
rs73036373
|
0.01031
|
|
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met)
|
rs116456291
|
0.01031
|
|
NM_024809.5(TCTN2):c.898C>T (p.Leu300=)
|
rs77804131
|
0.01030
|
|
NM_021956.5(GRIK2):c.939T>C (p.Asp313=)
|
rs34360565
|
0.01029
|
|
NM_000352.6(ABCC8):c.2538C>T (p.His846=)
|
rs73423037
|
0.01028
|
|
NM_001080414.4(CCDC88C):c.3969G>A (p.Leu1323=)
|
rs8017119
|
0.01028
|
|
NM_004426.3(PHC1):c.1536C>T (p.Ala512=)
|
rs202158376
|
0.01028
|
|
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=)
|
rs112158562
|
0.01028
|
|
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=)
|
rs141815642
|
0.01027
|
|
NM_003863.4(DPM2):c.183G>A (p.Leu61=)
|
rs11552794
|
0.01027
|
|
NM_007325.5(GRIA3):c.15G>A (p.Lys5=)
|
rs61740996
|
0.01027
|
|
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)
|
rs35889956
|
0.01026
|
|
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_000352.6(ABCC8):c.2556+22G>A
|
rs73423036
|
0.01022
|
|
NM_020987.5(ANK3):c.7715T>C (p.Ile2572Thr)
|
rs61732398
|
0.01022
|
|
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=)
|
rs16897391
|
0.01022
|
|
NM_004525.3(LRP2):c.9033-8T>C
|
rs140148483
|
0.01021
|
|
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=)
|
rs112018640
|
0.01020
|
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.01020
|
|
NM_001077365.2(POMT1):c.1125C>T (p.His375=)
|
rs35242383
|
0.01019
|
|
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)
|
rs35139588
|
0.01019
|
|
NM_001371623.1(TCOF1):c.162A>G (p.Gln54=)
|
rs73270831
|
0.01015
|
|
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=)
|
rs34503558
|
0.01014
|
|
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser)
|
rs35710558
|
0.01014
|
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
|
NM_016343.4(CENPF):c.3623C>T (p.Ala1208Val)
|
rs114717799
|
0.01013
|
|
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)
|
rs72648951
|
0.01012
|
|
NM_000352.6(ABCC8):c.423G>A (p.Val141=)
|
rs116132921
|
0.01009
|
|
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=)
|
rs35413925
|
0.01009
|
|
NM_020549.5(CHAT):c.2067C>T (p.Ile689=)
|
rs3793801
|
0.01009
|
|
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=)
|
rs139297659
|
0.01008
|
|
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)
|
rs11553518
|
0.01008
|
|
NM_007294.4(BRCA1):c.*1332G>A
|
rs8176320
|
0.01007
|
|
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=)
|
rs72683923
|
0.01007
|
|
NM_177438.3(DICER1):c.4206+9del
|
rs368080354
|
0.01007
|
|
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln)
|
rs121912497
|
0.01005
|
|
NM_024735.5(FBXO31):c.1065C>T (p.Pro355=)
|
rs61115074
|
0.01004
|
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
|
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_207346.3(TSEN54):c.1328C>G (p.Ser443Cys)
|
rs150169668
|
0.01002
|
|
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=)
|
rs117685875
|
0.01001
|
|
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val)
|
rs16868935
|
0.01001
|
|
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=)
|
rs56307230
|
0.01001
|
|
NM_001079802.2(FKTN):c.106-10G>A
|
rs148384394
|
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_004525.3(LRP2):c.5085G>A (p.Ser1695=)
|
rs145384264
|
0.00999
|
|
NM_000136.3(FANCC):c.-155A>C
|
rs549658720
|
0.00998
|
|
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)
|
rs61735835
|
0.00998
|
|
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=)
|
rs77718962
|
0.00998
|
|
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=)
|
rs184883626
|
0.00997
|
|
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=)
|
rs62637652
|
0.00997
|
|
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala)
|
rs61755434
|
0.00997
|
|
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr)
|
rs75182789
|
0.00995
|
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
|
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser)
|
rs73270846
|
0.00993
|
|
NM_138422.4(ADAT3):c.522C>T (p.Ser174=)
|
rs373784387
|
0.00993
|
|
NM_001999.4(FBN2):c.2778C>T (p.Ala926=)
|
rs28763948
|
0.00992
|
|
NM_002578.5(PAK3):c.1185C>T (p.Leu395=)
|
rs150174049
|
0.00992
|
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
|
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=)
|
rs61729397
|
0.00991
|
|
NM_001354604.2(MITF):c.1566G>A (p.Thr522=)
|
rs36118030
|
0.00991
|
|
NM_002520.7(NPM1):c.543T>C (p.Phe181=)
|
rs61755048
|
0.00991
|
|
NM_012301.4(MAGI2):c.531T>C (p.Thr177=)
|
rs34088845
|
0.00991
|
|
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=)
|
rs75480336
|
0.00991
|
|
NM_001201550.3(CFHR4):c.243G>A (p.Thr81=)
|
rs77556138
|
0.00990
|
|
NM_181523.3(PIK3R1):c.*3C>T
|
rs41268435
|
0.00989
|
|
NM_000208.4(INSR):c.1098T>C (p.Ser366=)
|
rs2229435
|
0.00988
|
|
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
|
rs41282930
|
0.00987
|
|
NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=)
|
rs34098809
|
0.00985
|
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00982
|
|
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_020921.4(NIN):c.600T>C (p.Gly200=)
|
rs61740039
|
0.00982
|
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00981
|
|
NM_030928.4(CDT1):c.130A>C (p.Thr44Pro)
|
rs587780306
|
0.00981
|
|
NM_001077365.2(POMT1):c.78G>A (p.Gly26=)
|
rs149554732
|
0.00980
|
|
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr)
|
rs144147445
|
0.00980
|
|
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn)
|
rs34326474
|
0.00980
|
|
NM_000064.4(C3):c.4457-5C>T
|
rs344554
|
0.00979
|
|
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)
|
rs79251326
|
0.00978
|
|
NM_201384.3(PLEC):c.10986C>T (p.Thr3662=)
|
rs35134741
|
0.00977
|
|
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=)
|
rs78952091
|
0.00975
|
|
NM_005445.4(SMC3):c.1092-8T>G
|
rs79912955
|
0.00975
|
|
NM_006059.4(LAMC3):c.454C>T (p.Arg152Cys)
|
rs45628035
|
0.00975
|
|
NM_007137.5(ZNF81):c.554C>T (p.Ser185Leu)
|
rs186251256
|
0.00975
|
|
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=)
|
rs61736900
|
0.00974
|
|
NM_032444.4(SLX4):c.999C>T (p.Ile333=)
|
rs7198338
|
0.00974
|
|
NM_000231.3(SGCG):c.435C>T (p.Asn145=)
|
rs35628352
|
0.00973
|
|
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=)
|
rs79359463
|
0.00973
|
|
NM_198334.3(GANAB):c.2548C>T (p.His850Tyr)
|
rs114915323
|
0.00973
|
|
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=)
|
rs145252235
|
0.00972
|
|
NM_001843.4(CNTN1):c.2670A>T (p.Gly890=)
|
rs34346038
|
0.00972
|
|
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
|
rs114975624
|
0.00971
|
|
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser)
|
rs144605615
|
0.00970
|
|
NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=)
|
rs73471053
|
0.00970
|
|
NM_000026.4(ADSL):c.124C>T (p.Leu42=)
|
rs2228415
|
0.00969
|
|
NM_007325.5(GRIA3):c.1501-8T>A
|
rs139058646
|
0.00969
|
|
NM_018100.4(EFHC1):c.881G>A (p.Arg294His)
|
rs1570624
|
0.00969
|
|
NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser)
|
rs2233066
|
0.00969
|
|
NM_019066.5(MAGEL2):c.2612C>T (p.Ala871Val)
|
rs74004212
|
0.00969
|
|
NM_201384.3(PLEC):c.2832C>T (p.Gly944=)
|
rs145050858
|
0.00969
|
|
NM_198271.5(LMOD3):c.252G>A (p.Met84Ile)
|
rs78574883
|
0.00968
|
|
NM_198271.5(LMOD3):c.253C>A (p.Leu85Met)
|
rs80113271
|
0.00968
|
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
|
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=)
|
rs116007471
|
0.00967
|
|
NM_000479.5(AMH):c.974A>G (p.Gln325Arg)
|
rs140765565
|
0.00966
|
|
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=)
|
rs61745451
|
0.00966
|
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
|
NM_012301.4(MAGI2):c.2379C>T (p.Leu793=)
|
rs73703715
|
0.00966
|
|
NM_001184.4(ATR):c.6339A>G (p.Val2113=)
|
rs7635479
|
0.00964
|
|
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=)
|
rs16830170
|
0.00961
|
|
NM_001083961.2(WDR62):c.1642+8C>T
|
rs143309981
|
0.00960
|
|
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)
|
rs2227968
|
0.00959
|
|
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp)
|
rs146917406
|
0.00958
|
|
NM_014832.5(TBC1D4):c.3617A>G (p.Asn1206Ser)
|
rs76851570
|
0.00958
|
|
NM_032119.4(ADGRV1):c.1839+7G>A
|
rs142011700
|
0.00957
|
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
|
NM_004525.3(LRP2):c.1172-8G>A
|
rs115371758
|
0.00955
|
|
NM_005881.4(BCKDK):c.845+10C>T
|
rs74015068
|
0.00955
|
|
NM_001005361.3(DNM2):c.235+12C>A
|
rs147026993
|
0.00953
|
|
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)
|
rs74518295
|
0.00953
|
|
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)
|
rs112647911
|
0.00953
|
|
NM_198253.2(TERT):c.-218C>G
|
rs34233268
|
0.00953
|
|
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu)
|
rs111704488
|
0.00952
|
|
NM_000208.4(INSR):c.909G>A (p.Gln303=)
|
rs9282757
|
0.00950
|
|
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His)
|
rs114142372
|
0.00949
|
|
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=)
|
rs111487086
|
0.00949
|
|
NM_144508.5(KNL1):c.3810G>A (p.Ala1270=)
|
rs34758606
|
0.00949
|
|
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser)
|
rs139321130
|
0.00949
|
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
|
NM_001042413.2(GLIS3):c.171C>T (p.Asn57=)
|
rs117802495
|
0.00947
|
|
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu)
|
rs62637610
|
0.00947
|
|
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168
|
0.00946
|
|
NM_016373.4(WWOX):c.885G>A (p.Arg295=)
|
rs79771882
|
0.00946
|
|
NM_001972.4(ELANE):c.655G>A (p.Val219Ile)
|
rs17216656
|
0.00945
|
|
NM_004998.4(MYO1E):c.2130G>A (p.Val710=)
|
rs114132435
|
0.00944
|
|
NM_012096.3(APPL1):c.36G>C (p.Thr12=)
|
rs79282761
|
0.00944
|
|
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)
|
rs56307810
|
0.00942
|
|
NM_133433.4(NIPBL):c.3121+11T>G
|
rs457583
|
0.00941
|
|
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val)
|
rs76066357
|
0.00936
|
|
NM_019066.5(MAGEL2):c.3229T>C (p.Leu1077=)
|
rs2233071
|
0.00936
|
|
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)
|
rs62167164
|
0.00935
|
|
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile)
|
rs113493697
|
0.00935
|
|
NM_032656.4(DHX37):c.887+9T>C
|
rs74614695
|
0.00935
|
|
NM_139343.3(BIN1):c.1263+11C>T
|
rs78967885
|
0.00935
|
|
NM_003482.4(KMT2D):c.5868-8C>T
|
rs75783546
|
0.00934
|
|
NM_015192.4(PLCB1):c.2413+9C>T
|
rs138442805
|
0.00934
|
|
NM_024596.5(MCPH1):c.2453-14C>T
|
rs17077744
|
0.00931
|
|
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln)
|
rs138924815
|
0.00931
|
|
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala)
|
rs73346297
|
0.00930
|
|
NM_015175.3(NBEAL2):c.1380G>A (p.Pro460=)
|
rs114363730
|
0.00928
|
|
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)
|
rs138421850
|
0.00928
|
|
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)
|
rs112545413
|
0.00927
|
|
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr)
|
rs191549504
|
0.00927
|
|
NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu)
|
rs75495782
|
0.00923
|
|
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His)
|
rs140547835
|
0.00922
|
|
NM_003863.4(DPM2):c.177C>T (p.Leu59=)
|
rs35334863
|
0.00922
|
|
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)
|
rs12849161
|
0.00922
|
|
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu)
|
rs77518617
|
0.00922
|
|
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)
|
rs78266558
|
0.00922
|
|
NM_001005361.3(DNM2):c.1782-11C>T
|
rs78580529
|
0.00921
|
|
NM_001128840.3(CACNA1D):c.4686C>T (p.Thr1562=)
|
rs74534595
|
0.00921
|
|
NM_001160372.4(TRAPPC9):c.456C>T (p.Ile152=)
|
rs61740786
|
0.00921
|
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
|
NM_002582.4(PARN):c.1383T>C (p.Leu461=)
|
rs143472178
|
0.00920
|
|
NM_000751.3(CHRND):c.243C>T (p.His81=)
|
rs115841867
|
0.00919
|
|
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=)
|
rs61520357
|
0.00918
|
|
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=)
|
rs41274568
|
0.00917
|
|
NM_004826.4(ECEL1):c.967-7C>G
|
rs76735188
|
0.00917
|
|
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr)
|
rs115348383
|
0.00917
|
|
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=)
|
rs7142192
|
0.00916
|
|
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=)
|
rs144596829
|
0.00916
|
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00914
|
|
NM_001164508.2(NEB):c.11769T>C (p.Ile3923=)
|
rs80320923
|
0.00914
|
|
NM_001164508.2(NEB):c.19311C>T (p.Ser6437=)
|
rs16830216
|
0.00914
|
|
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser)
|
rs116519044
|
0.00914
|
|
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His)
|
rs137975310
|
0.00913
|
|
NM_007118.4(TRIO):c.171C>T (p.Asn57=)
|
rs55664610
|
0.00913
|
|
NM_000023.4(SGCA):c.528C>T (p.Thr176=)
|
rs1801190
|
0.00912
|
|
NM_001160372.4(TRAPPC9):c.414C>T (p.Tyr138=)
|
rs115986561
|
0.00912
|
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
|
NM_001710.6(CFB):c.1137C>T (p.Arg379=)
|
rs45600936
|
0.00911
|
|
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)
|
rs145776888
|
0.00910
|
|
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=)
|
rs61732854
|
0.00910
|
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
|
NM_004826.4(ECEL1):c.426C>A (p.Asp142Glu)
|
rs144928688
|
0.00909
|
|
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=)
|
rs139524103
|
0.00909
|
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
|
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)
|
rs73025979
|
0.00908
|
|
NM_001042492.3(NF1):c.2022C>T (p.Ser674=)
|
rs2230851
|
0.00908
|
|
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu)
|
rs75385605
|
0.00906
|
|
NM_147127.5(EVC2):c.1311A>G (p.Leu437=)
|
rs77131452
|
0.00904
|
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
|
NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=)
|
rs35025065
|
0.00902
|
|
NM_005228.5(EGFR):c.1632T>C (p.Gly544=)
|
rs17290103
|
0.00901
|
|
NM_007254.4(PNKP):c.1127-8C>T
|
rs3739203
|
0.00901
|
|
NM_000426.4(LAMA2):c.1930C>G (p.His644Asp)
|
rs35879899
|
0.00899
|
|
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=)
|
rs6089898
|
0.00898
|
|
NM_025265.4(TSEN2):c.108A>G (p.Glu36=)
|
rs77258715
|
0.00898
|
|
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser)
|
rs2295191
|
0.00898
|
|
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_000135.4(FANCA):c.601C>T (p.Pro201Ser)
|
rs144917960
|
0.00895
|
|
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=)
|
rs35099393
|
0.00894
|
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
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_004168.4(SDHA):c.549C>T (p.Gly183=)
|
rs61733344
|
0.00892
|
|
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=)
|
rs34355967
|
0.00892
|
|
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)
|
rs61995747
|
0.00892
|
|
UGT1A1*6
|
rs4148323
|
0.00891
|
|
NM_001626.6(AKT2):c.*9C>T
|
rs79275829
|
0.00890
|
|
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_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
|
NM_133642.5(LARGE1):c.552G>A (p.Thr184=)
|
rs8142483
|
0.00887
|
|
NM_005228.5(EGFR):c.1317A>G (p.Ala439=)
|
rs17290005
|
0.00886
|
|
NM_016222.4(DDX41):c.*3C>T
|
rs73804364
|
0.00886
|
|
NM_000195.5(HPS1):c.255+9A>G
|
rs78927693
|
0.00885
|
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
|
NM_133642.5(LARGE1):c.2073+36C>T
|
rs41302579
|
0.00883
|
|
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=)
|
rs35748854
|
0.00882
|
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
|
NM_004268.5(MED17):c.1071T>A (p.Phe357Leu)
|
rs35313315
|
0.00877
|
|
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr)
|
rs35735053
|
0.00876
|
|
NM_000540.3(RYR1):c.10259+7G>A
|
rs143752962
|
0.00875
|
|
NM_004752.4(GCM2):c.844T>G (p.Tyr282Asp)
|
rs61734277
|
0.00874
|
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
|
NM_000760.4(CSF3R):c.1794C>T (p.Ile598=)
|
rs3917998
|
0.00872
|
|
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=)
|
rs80241480
|
0.00871
|
|
NM_198428.3(BBS9):c.555C>T (p.Ala185=)
|
rs35440033
|
0.00871
|
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
|
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val)
|
rs75248784
|
0.00870
|
|
NM_020066.5(FMN2):c.426C>T (p.Thr142=)
|
rs143096048
|
0.00870
|
|
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)
|
rs55980657
|
0.00869
|
|
NM_001205254.2(OCLN):c.70C>G (p.Pro24Ala)
|
rs147125035
|
0.00868
|
|
NM_022437.3(ABCG8):c.51C>A (p.Pro17=)
|
rs72647316
|
0.00868
|
|
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)
|
rs34369939
|
0.00867
|
|
NM_014832.5(TBC1D4):c.1587C>T (p.His529=)
|
rs61737964
|
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_000426.4(LAMA2):c.8548-10T>C
|
rs113644365
|
0.00865
|
|
NM_018136.5(ASPM):c.8820+7C>G
|
rs115045814
|
0.00865
|
|
NM_003502.4(AXIN1):c.2409C>T (p.Arg803=)
|
rs61753369
|
0.00864
|
|
NM_004752.4(GCM2):c.679A>G (p.Ile227Val)
|
rs35395043
|
0.00864
|
|
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=)
|
rs34734612
|
0.00864
|
|
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr)
|
rs79343837
|
0.00864
|
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
|
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=)
|
rs76974316
|
0.00862
|
|
NM_000204.5(CFI):c.*7G>T
|
rs80173133
|
0.00861
|
|
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
|
rs3729823
|
0.00861
|
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
|
NM_018249.6(CDK5RAP2):c.307-4G>A
|
rs7030969
|
0.00860
|
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
|
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp)
|
rs34708681
|
0.00859
|
|
NM_005228.5(EGFR):c.1509C>T (p.Gly503=)
|
rs17336800
|
0.00859
|
|
NM_000426.4(LAMA2):c.9123C>T (p.Val3041=)
|
rs61749497
|
0.00858
|
|
NM_003392.7(WNT5A):c.391+11A>G
|
rs6790979
|
0.00858
|
|
NM_020921.4(NIN):c.3454G>T (p.Val1152Phe)
|
rs61742284
|
0.00858
|
|
NM_005357.4(LIPE):c.436C>T (p.Pro146Ser)
|
rs34348028
|
0.00857
|
|
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=)
|
rs140186806
|
0.00856
|
|
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser)
|
rs34704821
|
0.00856
|
|
NM_194292.3(SASS6):c.735A>G (p.Gln245=)
|
rs150364529
|
0.00856
|
|
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)
|
rs140237315
|
0.00855
|
|
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_032638.5(GATA2):c.481C>G (p.Pro161Ala)
|
rs34799090
|
0.00854
|
|
NM_000257.4(MYH7):c.597A>G (p.Ala199=)
|
rs2069541
|
0.00853
|
|
NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln)
|
rs142136104
|
0.00853
|
|
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=)
|
rs11829764
|
0.00853
|
|
NM_006306.4(SMC1A):c.2197-5T>C
|
rs2297104
|
0.00852
|
|
NM_033028.5(BBS4):c.180A>G (p.Gln60=)
|
rs114434361
|
0.00852
|
|
NM_201384.3(PLEC):c.1752C>T (p.Pro584=)
|
rs185978075
|
0.00852
|
|
NM_005228.5(EGFR):c.2047C>T (p.Leu683=)
|
rs55669340
|
0.00851
|
|
NM_018648.4(NOP10):c.34G>C (p.Asp12His)
|
rs146261631
|
0.00851
|
|
NM_003356.4(UCP3):c.127-7C>T
|
rs77012485
|
0.00848
|
|
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln)
|
rs138615800
|
0.00848
|
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
|
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)
|
rs75937132
|
0.00847
|
|
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=)
|
rs74850270
|
0.00847
|
|
NM_025132.4(WDR19):c.1581C>A (p.Thr527=)
|
rs114689848
|
0.00847
|
|
NM_016648.4(LARP7):c.651G>C (p.Glu217Asp)
|
rs141178932
|
0.00846
|
|
NM_130398.4(EXO1):c.2276G>A (p.Gly759Glu)
|
rs4150001
|
0.00846
|
|
NM_001256545.2(MEGF10):c.609C>T (p.Cys203=)
|
rs113794264
|
0.00845
|
|
NM_002693.3(POLG):c.2109C>A (p.Ala703=)
|
rs2307429
|
0.00845
|
|
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly)
|
rs4675887
|
0.00845
|
|
NM_015175.3(NBEAL2):c.6318C>T (p.Tyr2106=)
|
rs141569354
|
0.00844
|
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00844
|
|
NM_001083116.3(PRF1):c.702G>A (p.Ser234=)
|
rs138508223
|
0.00843
|
|
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=)
|
rs115891952
|
0.00843
|
|
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=)
|
rs34422412
|
0.00842
|
|
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly)
|
rs77360687
|
0.00842
|
|
NM_005228.5(EGFR):c.1788G>A (p.Pro596=)
|
rs17290162
|
0.00841
|
|
NM_015922.3(NSDHL):c.942C>T (p.Ile314=)
|
rs35375481
|
0.00841
|
|
NM_019066.5(MAGEL2):c.383T>C (p.Leu128Pro)
|
rs191559595
|
0.00841
|
|
NM_024334.3(TMEM43):c.222C>T (p.Pro74=)
|
rs34099410
|
0.00841
|
|
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)
|
rs138047593
|
0.00841
|
|
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala)
|
rs138693624
|
0.00841
|
|
NM_004972.4(JAK2):c.1323C>T (p.Val441=)
|
rs78729673
|
0.00839
|
|
NM_001330078.2(NRXN1):c.772+1140G>A
|
rs61658382
|
0.00837
|
|
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=)
|
rs146141457
|
0.00837
|
|
NM_001429.4(EP300):c.2998-12G>A
|
rs115849119
|
0.00836
|
|
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly)
|
rs193291405
|
0.00836
|
|
NM_002894.3(RBBP8):c.1766G>A (p.Arg589His)
|
rs111445733
|
0.00834
|
|
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly)
|
rs79723119
|
0.00834
|
|
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly)
|
rs17076894
|
0.00834
|
|
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala)
|
rs9981448
|
0.00833
|
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
|
NM_002067.5(GNA11):c.141G>A (p.Thr47=)
|
rs61731117
|
0.00832
|
|
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)
|
rs2754155
|
0.00831
|
|
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)
|
rs72563785
|
0.00830
|
|
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser)
|
rs45479302
|
0.00830
|
|
NM_001807.6(CEL):c.2064C>G (p.Gly688=)
|
rs373329036
|
0.00828
|
|
NM_020921.4(NIN):c.4674G>A (p.Thr1558=)
|
rs45578537
|
0.00828
|
|
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=)
|
rs61741227
|
0.00828
|
|
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)
|
rs34179337
|
0.00827
|
|
NM_001904.4(CTNNB1):c.14-4A>G
|
rs5743391
|
0.00827
|
|
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)
|
rs17882335
|
0.00827
|
|
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=)
|
rs61748693
|
0.00825
|
|
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln)
|
rs80097077
|
0.00825
|
|
NM_002168.4(IDH2):c.429G>C (p.Leu143=)
|
rs144712130
|
0.00824
|
|
NM_018136.5(ASPM):c.*158T>C
|
rs41265225
|
0.00824
|
|
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg)
|
rs78925077
|
0.00824
|
|
NM_000548.5(TSC2):c.1110G>A (p.Gln370=)
|
rs1800742
|
0.00823
|
|
NM_001348800.3(ZBTB20):c.*6A>G
|
rs114699546
|
0.00823
|
|
NM_152703.5(SAMD9L):c.286T>C (p.Ser96Pro)
|
rs60838691
|
0.00823
|
|
NM_001130004.2(ACTN1):c.672C>T (p.Ala224=)
|
rs73284984
|
0.00820
|
|
NM_001364905.1(LRBA):c.3874G>A (p.Val1292Ile)
|
rs34678304
|
0.00820
|
|
NM_004525.3(LRP2):c.2175C>T (p.Thr725=)
|
rs141180155
|
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_005271.5(GLUD1):c.1470G>A (p.Thr490=)
|
rs141844887
|
0.00818
|
|
NM_032638.5(GATA2):c.-276T>G
|
rs563914744
|
0.00818
|
|
NM_139318.5(KCNH5):c.1369+7A>G
|
rs79489451
|
0.00818
|
|
NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=)
|
rs73710962
|
0.00818
|
|
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)
|
rs34741387
|
0.00817
|
|
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile)
|
rs114583297
|
0.00817
|
|
NM_182914.3(SYNE2):c.16305G>A (p.Leu5435=)
|
rs116758464
|
0.00817
|
|
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=)
|
rs114454383
|
0.00816
|
|
NM_001077365.2(POMT1):c.1826-6C>A
|
rs140258585
|
0.00816
|
|
NM_001077365.2(POMT1):c.1826-7C>A
|
rs148180760
|
0.00816
|
|
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=)
|
rs11543345
|
0.00816
|
|
NM_001365088.1(SLC12A6):c.1284C>T (p.Asn428=)
|
rs34098566
|
0.00816
|
|
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=)
|
rs61735806
|
0.00816
|
|
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=)
|
rs61741557
|
0.00815
|
|
NM_003073.5(SMARCB1):c.362+7C>T
|
rs34746244
|
0.00815
|
|
NM_004056.6(CA8):c.299C>T (p.Ser100Leu)
|
rs149391728
|
0.00815
|
|
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=)
|
rs142359891
|
0.00815
|
|
NM_020921.4(NIN):c.264A>T (p.Pro88=)
|
rs61755037
|
0.00815
|
|
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)
|
rs139017763
|
0.00815
|
|
NM_144508.5(KNL1):c.5151T>C (p.Pro1717=)
|
rs74377704
|
0.00815
|
|
NM_001378778.1(MPDZ):c.275C>T (p.Ser92Leu)
|
rs17273542
|
0.00814
|
|
NM_003482.4(KMT2D):c.5016T>C (p.Pro1672=)
|
rs114731584
|
0.00814
|
|
NM_001184.4(ATR):c.268C>T (p.His90Tyr)
|
rs28897763
|
0.00813
|
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
|
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=)
|
rs116431741
|
0.00812
|
|
NM_000136.3(FANCC):c.1330-3C>T
|
rs4647542
|
0.00811
|
|
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp)
|
rs1056085
|
0.00810
|
|
NM_138927.4(SON):c.4122T>C (p.Thr1374=)
|
rs148012048
|
0.00810
|
|
NM_001015877.2(PHF6):c.927C>T (p.Asp309=)
|
rs112199174
|
0.00809
|
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
|
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile)
|
rs2289178
|
0.00809
|
|
NM_006086.4(TUBB3):c.1215G>A (p.Glu405=)
|
rs141064323
|
0.00809
|
|
NM_001079802.2(FKTN):c.166-6A>G
|
rs41277795
|
0.00808
|
|
NM_004364.5(CEBPA):c.693C>G (p.Pro231=)
|
rs550308123
|
0.00808
|
|
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp)
|
rs41299623
|
0.00808
|
|
NM_001079802.2(FKTN):c.910+14G>A
|
rs76180538
|
0.00806
|
|
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=)
|
rs17145653
|
0.00806
|
|
NM_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
|
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=)
|
rs77898819
|
0.00804
|
|
NM_001830.4(CLCN4):c.288G>A (p.Thr96=)
|
rs2106801
|
0.00804
|
|
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
|
rs61910685
|
0.00804
|
|
NM_006086.4(TUBB3):c.702C>T (p.Ser234=)
|
rs147245174
|
0.00803
|
|
NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=)
|
rs77045393
|
0.00802
|
|
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His)
|
rs116644127
|
0.00802
|
|
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=)
|
rs34654108
|
0.00801
|
|
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=)
|
rs10405232
|
0.00800
|
|
NM_001199138.2(NLRC4):c.2785G>T (p.Ala929Ser)
|
rs61754192
|
0.00800
|
|
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=)
|
rs112703040
|
0.00799
|
|
NM_198576.4(AGRN):c.3964C>T (p.Arg1322Trp)
|
rs184970403
|
0.00799
|
|
NM_198576.4(AGRN):c.3972G>A (p.Pro1324=)
|
rs201483077
|
0.00799
|
|
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=)
|
rs61744561
|
0.00798
|
|
NM_000208.4(INSR):c.262T>C (p.Leu88=)
|
rs61736580
|
0.00797
|
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
|
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)
|
rs62109744
|
0.00795
|
|
NM_024757.5(EHMT1):c.1369+9C>T
|
rs146125583
|
0.00794
|
|
NM_198859.4(PRICKLE2):c.144+10T>C
|
rs74535153
|
0.00794
|
|
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)
|
rs80039127
|
0.00793
|
|
NM_002470.4(MYH3):c.774G>A (p.Lys258=)
|
rs16943598
|
0.00793
|
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
|
NM_002470.4(MYH3):c.3726T>C (p.Ser1242=)
|
rs77946261
|
0.00792
|
|
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)
|
rs116660078
|
0.00791
|
|
NM_014875.3(KIF14):c.1734G>A (p.Met578Ile)
|
rs144936292
|
0.00791
|
|
NM_020937.4(FANCM):c.2445G>A (p.Ser815=)
|
rs61745871
|
0.00791
|
|
NM_032575.3(GLIS2):c.894C>T (p.Pro298=)
|
rs112926217
|
0.00791
|
|
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=)
|
rs114315466
|
0.00790
|
|
NM_173660.5(DOK7):c.332-4G>A
|
rs199578351
|
0.00790
|
|
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
|
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)
|
rs149055334
|
0.00789
|
|
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu)
|
rs62623455
|
0.00788
|
|
NM_000465.4(BARD1):c.609A>C (p.Gly203=)
|
rs28997574
|
0.00787
|
|
NM_002693.3(POLG):c.3561G>C (p.Arg1187=)
|
rs62640037
|
0.00787
|
|
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)
|
rs78461695
|
0.00787
|
|
NM_032415.7(CARD11):c.1923G>A (p.Arg641=)
|
rs41405944
|
0.00786
|
|
NM_002693.3(POLG):c.3644-9A>G
|
rs115048121
|
0.00785
|
|
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=)
|
rs61754523
|
0.00785
|
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
|
NM_005431.2(XRCC2):c.*1925A>C
|
rs3218553
|
0.00784
|
|
NM_015426.5(POC1A):c.915T>G (p.Val305=)
|
rs115238307
|
0.00784
|
|
NM_207361.6(FREM2):c.1518C>T (p.Ser506=)
|
rs141821695
|
0.00784
|
|
NM_021044.4(DHH):c.543C>T (p.His181=)
|
rs117527954
|
0.00783
|
|
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=)
|
rs17003124
|
0.00783
|
|
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_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile)
|
rs146819984
|
0.00781
|
|
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln)
|
rs142678449
|
0.00781
|
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
|
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr)
|
rs111818381
|
0.00781
|
|
NM_015662.3(IFT172):c.1338T>C (p.Asn446=)
|
rs61743327
|
0.00780
|
|
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter)
|
rs62624965
|
0.00780
|
|
NM_001379500.1(COL18A1):c.107-12152C>T
|
rs142892701
|
0.00779
|
|
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu)
|
rs35203521
|
0.00779
|
|
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala)
|
rs114695225
|
0.00779
|
|
NM_206937.2(LIG4):c.513T>C (p.Leu171=)
|
rs3093764
|
0.00779
|
|
NM_004364.5(CEBPA):c.756G>T (p.Ala252=)
|
rs571969199
|
0.00778
|
|
NM_018100.4(EFHC1):c.662G>A (p.Arg221His)
|
rs79761183
|
0.00778
|
|
NM_003661.4(APOL1):c.792C>A (p.Asn264Lys)
|
rs73885316
|
0.00777
|
|
NM_177438.3(DICER1):c.2370G>A (p.Arg790=)
|
rs112712209
|
0.00777
|
|
NM_000141.5(FGFR2):c.294G>A (p.Thr98=)
|
rs1047101
|
0.00776
|
|
NM_004972.4(JAK2):c.1284T>C (p.Ser428=)
|
rs2230727
|
0.00776
|
|
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys)
|
rs143818824
|
0.00776
|
|
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly)
|
rs61738567
|
0.00775
|
|
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser)
|
rs114737609
|
0.00775
|
|
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)
|
rs55886356
|
0.00774
|
|
NM_002113.3(CFHR1):c.790+1G>A
|
rs140799744
|
0.00774
|
|
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)
|
rs52820871
|
0.00774
|
|
NM_018136.5(ASPM):c.10162-7T>A
|
rs141402675
|
0.00774
|
|
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro)
|
rs41296081
|
0.00774
|
|
NM_015421.4(TMEM186):c.1A>G (p.Met1Val)
|
rs147436106
|
0.00773
|
|
NM_030928.4(CDT1):c.1521G>A (p.Pro507=)
|
rs139633564
|
0.00773
|
|
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=)
|
rs34405660
|
0.00772
|
|
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)
|
rs17512054
|
0.00771
|
|
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu)
|
rs34849154
|
0.00771
|
|
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met)
|
rs75024419
|
0.00771
|
|
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe)
|
rs76927619
|
0.00770
|
|
NM_017721.5(CC2D1A):c.1634T>C (p.Ile545Thr)
|
rs75601897
|
0.00770
|
|
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=)
|
rs115746478
|
0.00769
|
|
NM_153704.6(TMEM67):c.1774-45A>C
|
rs73694960
|
0.00769
|
|
NM_006031.6(PCNT):c.7353G>A (p.Gly2451=)
|
rs61735816
|
0.00767
|
|
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)
|
rs111033429
|
0.00767
|
|
NM_173630.4(RTTN):c.1929+3G>A
|
rs75464253
|
0.00767
|
|
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)
|
rs61734527
|
0.00766
|
|
NM_000540.3(RYR1):c.906C>T (p.Asp302=)
|
rs145943283
|
0.00765
|
|
NM_198428.3(BBS9):c.2220G>A (p.Leu740=)
|
rs115809567
|
0.00765
|
|
NM_006031.6(PCNT):c.7914-4G>A
|
rs76287849
|
0.00764
|
|
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter)
|
rs143140599
|
0.00764
|
|
NM_152515.5(CKAP2L):c.2185C>T (p.Arg729Cys)
|
rs76036957
|
0.00764
|
|
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=)
|
rs61753382
|
0.00763
|
|
NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=)
|
rs76868547
|
0.00762
|
|
NM_018943.3(TUBA8):c.383C>T (p.Ala128Val)
|
rs2234331
|
0.00762
|
|
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=)
|
rs35538317
|
0.00761
|
|
NM_005214.5(CTLA4):c.75G>C (p.Leu25=)
|
rs16840275
|
0.00761
|
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
|
NM_182961.4(SYNE1):c.156T>C (p.Asp52=)
|
rs139156106
|
0.00761
|
|
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)
|
rs200793796
|
0.00760
|
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
|
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His)
|
rs77075366
|
0.00759
|
|
NM_006912.6(RIT1):c.375C>T (p.Asp125=)
|
rs34831194
|
0.00759
|
|
NM_022552.5(DNMT3A):c.759C>T (p.Pro253=)
|
rs77558739
|
0.00759
|
|
NM_022725.4(FANCF):c.387C>T (p.Leu129=)
|
rs45556032
|
0.00759
|
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00758
|
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
|
NM_001371928.1(AHDC1):c.1326C>T (p.Gly442=)
|
rs188125472
|
0.00758
|
|
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met)
|
rs75099879
|
0.00758
|
|
NM_015426.5(POC1A):c.149C>T (p.Pro50Leu)
|
rs11546882
|
0.00758
|
|
NM_020921.4(NIN):c.5903C>T (p.Thr1968Met)
|
rs61744312
|
0.00758
|
|
NM_001375405.1(CEP120):c.2182A>G (p.Ser728Gly)
|
rs61744334
|
0.00757
|
|
NM_025077.4(TOE1):c.1141G>A (p.Glu381Lys)
|
rs61323219
|
0.00757
|
|
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
|
rs28933375
|
0.00756
|
|
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe)
|
rs3747333
|
0.00756
|
|
NM_007059.4(KPTN):c.631G>C (p.Gly211Arg)
|
rs182019900
|
0.00755
|
|
NM_001378778.1(MPDZ):c.2602G>A (p.Gly868Ser)
|
rs34776397
|
0.00754
|
|
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg)
|
rs7528827
|
0.00754
|
|
NM_001368882.1(COL13A1):c.685-1162T>C
|
rs147026259
|
0.00753
|
|
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr)
|
rs34364382
|
0.00753
|
|
NM_004364.5(CEBPA):c.1041G>A (p.Glu347=)
|
rs141430731
|
0.00752
|
|
NM_207361.6(FREM2):c.6989T>C (p.Val2330Ala)
|
rs61744595
|
0.00751
|
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
|
NM_000186.4(CFH):c.3102T>C (p.Asn1034=)
|
rs34594237
|
0.00750
|
|
NM_173630.4(RTTN):c.32-3C>T
|
rs75577820
|
0.00750
|
|
NM_000548.5(TSC2):c.1543C>T (p.Leu515=)
|
rs35896166
|
0.00749
|
|
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=)
|
rs79039458
|
0.00749
|
|
NM_020921.4(NIN):c.5188T>C (p.Leu1730=)
|
rs61741547
|
0.00749
|
|
NM_001005361.3(DNM2):c.235+6A>G
|
rs113192269
|
0.00748
|
|
NM_015114.3(ANKLE2):c.1986C>T (p.Ser662=)
|
rs114132434
|
0.00748
|
|
NM_024596.5(MCPH1):c.2453-13G>A
|
rs111713406
|
0.00748
|
|
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser)
|
rs116716038
|
0.00747
|
|
NM_002894.3(RBBP8):c.1644T>C (p.Asp548=)
|
rs34780140
|
0.00746
|
|
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)
|
rs61754118
|
0.00745
|
|
NM_001083961.2(WDR62):c.*5G>A
|
rs61740165
|
0.00745
|
|
NM_001130987.2(DYSF):c.1380+6G>C
|
rs75796187
|
0.00745
|
|
NM_001201550.3(CFHR4):c.159C>T (p.Ser53=)
|
rs78951215
|
0.00745
|
|
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr)
|
rs113195648
|
0.00745
|
|
NM_014444.5(TUBGCP4):c.1086T>C (p.Leu362=)
|
rs61753624
|
0.00745
|
|
NM_017534.6(MYH2):c.183G>A (p.Thr61=)
|
rs142539913
|
0.00745
|
|
NM_152703.5(SAMD9L):c.1913G>A (p.Arg638His)
|
rs73710963
|
0.00745
|
|
NM_001715.3(BLK):c.102C>T (p.Asp34=)
|
rs75383960
|
0.00743
|
|
NM_001813.3(CENPE):c.3529A>T (p.Met1177Leu)
|
rs35975325
|
0.00742
|
|
NM_015175.3(NBEAL2):c.4257G>A (p.Pro1419=)
|
rs116791394
|
0.00742
|
|
NM_001201550.3(CFHR4):c.62T>C (p.Val21Ala)
|
rs78624607
|
0.00741
|
|
NM_133444.3(ZNF526):c.566C>T (p.Pro189Leu)
|
rs150807158
|
0.00741
|
|
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=)
|
rs61742808
|
0.00740
|
|
NM_001201550.3(CFHR4):c.348T>A (p.Asn116Lys)
|
rs193093149
|
0.00739
|
|
NM_000334.4(SCN4A):c.3441+7G>A
|
rs142270113
|
0.00738
|
|
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)
|
rs36084488
|
0.00738
|
|
NM_005327.7(HADH):c.881A>G (p.Asn294Ser)
|
rs36030668
|
0.00738
|
|
NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe)
|
rs113259170
|
0.00738
|
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
|
NM_000173.7(GP1BA):c.215G>A (p.Arg72His)
|
rs6068
|
0.00737
|
|
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=)
|
rs80094872
|
0.00737
|
|
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln)
|
rs183329050
|
0.00737
|
|
NM_030632.3(ASXL3):c.5991A>G (p.Lys1997=)
|
rs75411012
|
0.00737
|
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
|
NM_001201550.3(CFHR4):c.277G>A (p.Val93Ile)
|
rs150254054
|
0.00736
|
|
NM_001368809.2(AMPD2):c.223-4C>T
|
rs116223306
|
0.00736
|
|
NM_002473.6(MYH9):c.1729-6C>T
|
rs9622375
|
0.00736
|
|
NM_020461.4(TUBGCP6):c.5181G>A (p.Thr1727=)
|
rs35231253
|
0.00736
|
|
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg)
|
rs192925278
|
0.00734
|
|
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)
|
rs35707762
|
0.00734
|
|
NM_018013.4(SOBP):c.319A>G (p.Thr107Ala)
|
rs148915050
|
0.00734
|
|
NM_031407.7(HUWE1):c.10101G>A (p.Arg3367=)
|
rs41306894
|
0.00734
|
|
NM_000372.5(TYR):c.835T>C (p.Leu279=)
|
rs4987234
|
0.00733
|
|
NM_001127208.3(TET2):c.2771A>G (p.His924Arg)
|
rs34485921
|
0.00733
|
|
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)
|
rs33956783
|
0.00733
|
|
NM_017763.6(RNF43):c.2261G>C (p.Gly754Ala)
|
rs115553539
|
0.00733
|
|
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val)
|
rs111759069
|
0.00733
|
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00732
|
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
|
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)
|
rs62000428
|
0.00732
|
|
NM_001379500.1(COL18A1):c.107-12174G>A
|
rs148957774
|
0.00732
|
|
NM_007294.4(BRCA1):c.*781C>T
|
rs8176319
|
0.00732
|
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
|
NM_139027.6(ADAMTS13):c.357C>T (p.Ser119=)
|
rs147563206
|
0.00731
|
|
NM_173598.6(KSR2):c.2757T>C (p.Pro919=)
|
rs56407105
|
0.00731
|
|
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)
|
rs45464693
|
0.00730
|
|
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=)
|
rs137993810
|
0.00730
|
|
NM_001353108.3(CEP63):c.1155C>A (p.Asn385Lys)
|
rs34189216
|
0.00729
|
|
NM_001371928.1(AHDC1):c.3264C>T (p.Ser1088=)
|
rs149242867
|
0.00729
|
|
NM_005523.6(HOXA11):c.*6C>T
|
rs17427861
|
0.00729
|
|
NM_030928.4(CDT1):c.185C>T (p.Ala62Val)
|
rs561655241
|
0.00729
|
|
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)
|
rs146953558
|
0.00728
|
|
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala)
|
rs149518409
|
0.00727
|
|
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn)
|
rs112563569
|
0.00725
|
|
NM_001098511.3(KIF2A):c.936T>C (p.Tyr312=)
|
rs115557867
|
0.00725
|
|
NM_003193.5(TBCE):c.1050A>G (p.Glu350=)
|
rs35663526
|
0.00725
|
|
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)
|
rs75714509
|
0.00723
|
|
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr)
|
rs35962914
|
0.00723
|
|
NM_012301.4(MAGI2):c.2329T>C (p.Leu777=)
|
rs76346657
|
0.00722
|
|
NM_015330.6(SPECC1L):c.600A>T (p.Leu200Phe)
|
rs56112030
|
0.00722
|
|
NM_030632.3(ASXL3):c.4239C>T (p.Val1413=)
|
rs149577667
|
0.00722
|
|
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=)
|
rs146396078
|
0.00721
|
|
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val)
|
rs45496299
|
0.00721
|
|
NM_015330.6(SPECC1L):c.1329T>G (p.Val443=)
|
rs55945050
|
0.00721
|
|
NM_001082538.3(TCTN1):c.220+12G>C
|
rs76843552
|
0.00719
|
|
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)
|
rs77014998
|
0.00719
|
|
NM_003309.4(TSPYL1):c.1135A>G (p.Thr379Ala)
|
rs45490498
|
0.00719
|
|
NM_015330.6(SPECC1L):c.2743+10A>G
|
rs62233134
|
0.00719
|
|
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr)
|
rs112230218
|
0.00719
|
|
NM_001429.4(EP300):c.1168+7G>C
|
rs181755354
|
0.00718
|
|
NM_030665.4(RAI1):c.3791A>G (p.Glu1264Gly)
|
rs61746214
|
0.00717
|
|
NM_138927.4(SON):c.4554C>T (p.His1518=)
|
rs7280001
|
0.00716
|
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
|
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=)
|
rs76426116
|
0.00714
|
|
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr)
|
rs2307298
|
0.00713
|
|
NM_212550.5(BLOC1S3):c.339G>A (p.Leu113=)
|
rs546645333
|
0.00713
|
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
|
NM_001291415.2(KDM6A):c.1999C>G (p.Leu667Val)
|
rs112725812
|
0.00712
|
|
NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr)
|
rs61742074
|
0.00712
|
|
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu)
|
rs74632023
|
0.00712
|
|
NM_001365088.1(SLC12A6):c.2925G>A (p.Val975=)
|
rs112835706
|
0.00711
|
|
NM_001848.3(COL6A1):c.1823-8G>A
|
rs184666690
|
0.00711
|
|
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)
|
rs3026268
|
0.00711
|
|
NM_138387.4(G6PC3):c.*2T>C
|
rs113416399
|
0.00711
|
|
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
|
NM_001206999.2(CIT):c.5623+9G>A
|
rs11610278
|
0.00708
|
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
|
NM_181507.2(HPS5):c.2441-8T>C
|
rs144196437
|
0.00708
|
|
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=)
|
rs60091617
|
0.00708
|
|
NM_001379500.1(COL18A1):c.3673G>A (p.Val1225Met)
|
rs77326997
|
0.00707
|
|
NM_006206.6(PDGFRA):c.672G>A (p.Val224=)
|
rs151259376
|
0.00707
|
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
|
NM_013328.4(PYCR2):c.634-3T>C
|
rs115445786
|
0.00706
|
|
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr)
|
rs145018752
|
0.00705
|
|
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=)
|
rs113369380
|
0.00705
|
|
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala)
|
rs61755863
|
0.00705
|
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
|
NM_001379110.1(SLC9A6):c.1662-4G>A
|
rs188072063
|
0.00703
|
|
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn)
|
rs115369710
|
0.00703
|
|
NM_016222.4(DDX41):c.1683C>T (p.Pro561=)
|
rs140652745
|
0.00703
|
|
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met)
|
rs3087481
|
0.00702
|
|
NM_000041.4(APOE):c.487C>T (p.Arg163Cys)
|
rs769455
|
0.00701
|
|
NM_001018113.3(FANCB):c.402A>G (p.Leu134=)
|
rs147260208
|
0.00701
|
|
NM_014832.5(TBC1D4):c.2050C>G (p.Arg684Gly)
|
rs61736969
|
0.00701
|
|
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)
|
rs3827522
|
0.00701
|
|
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=)
|
rs76836497
|
0.00700
|
|
NM_198576.4(AGRN):c.5726G>C (p.Ser1909Thr)
|
rs74685771
|
0.00700
|
|
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=)
|
rs1800039
|
0.00699
|
|
NM_015450.3(POT1):c.1687-5T>A
|
rs35062732
|
0.00699
|
|
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile)
|
rs116746734
|
0.00699
|
|
NM_000070.3(CAPN3):c.939G>A (p.Pro313=)
|
rs78369269
|
0.00698
|
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
|
NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser)
|
rs61756316
|
0.00698
|
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
|
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=)
|
rs72646827
|
0.00697
|
|
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)
|
rs115959591
|
0.00697
|
|
NM_001130004.2(ACTN1):c.676+6A>G
|
rs147440695
|
0.00696
|
|
NM_001267550.2(TTN):c.32722+9G>A
|
rs148231130
|
0.00695
|
|
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=)
|
rs77310009
|
0.00694
|
|
NM_004260.4(RECQL4):c.-6C>T
|
rs35827852
|
0.00694
|
|
NM_021784.5(FOXA2):c.298G>C (p.Ala100Pro)
|
rs201350646
|
0.00694
|
|
NM_022455.5(NSD1):c.1515T>C (p.Asn505=)
|
rs114747882
|
0.00694
|
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
|
NM_031407.7(HUWE1):c.6097+7A>C
|
rs147480463
|
0.00694
|
|
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp)
|
rs117498128
|
0.00693
|
|
NM_000075.4(CDK4):c.696G>A (p.Leu232=)
|
rs2227953
|
0.00692
|
|
NM_001015877.2(PHF6):c.729+4A>G
|
rs188961105
|
0.00691
|
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
|
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=)
|
rs138683183
|
0.00691
|
|
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val)
|
rs61740117
|
0.00691
|
|
NM_198576.4(AGRN):c.5598C>T (p.Thr1866=)
|
rs17778478
|
0.00691
|
|
NM_000075.4(CDK4):c.447A>G (p.Thr149=)
|
rs2069501
|
0.00690
|
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
|
NM_015559.3(SETBP1):c.3618T>C (p.His1206=)
|
rs34882016
|
0.00689
|
|
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser)
|
rs113611857
|
0.00689
|
|
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)
|
rs55685423
|
0.00688
|
|
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser)
|
rs17102311
|
0.00688
|
|
NM_022436.3(ABCG5):c.775-10G>T
|
rs114549158
|
0.00688
|
|
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp)
|
rs145286619
|
0.00688
|
|
NM_018036.7(ATG2B):c.462T>C (p.Ala154=)
|
rs61740267
|
0.00687
|
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
|
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly)
|
rs112105381
|
0.00685
|
|
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)
|
rs147354926
|
0.00685
|
|
NM_015202.5(KATNIP):c.4026G>C (p.Glu1342Asp)
|
rs115450895
|
0.00685
|
|
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=)
|
rs143552175
|
0.00685
|
|
NM_024101.7(MLPH):c.1508C>T (p.Ser503Leu)
|
rs146485666
|
0.00685
|
|
NM_002113.3(CFHR1):c.133G>T (p.Val45Phe)
|
rs138970064
|
0.00684
|
|
NM_001126049.2(KLLN):c.-956G>T
|
rs34149102
|
0.00683
|
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00683
|
|
NM_004933.3(CDH15):c.2025G>A (p.Pro675=)
|
rs62068507
|
0.00683
|
|
NM_000162.5(GCK):c.645C>T (p.Tyr215=)
|
rs144723656
|
0.00682
|
|
NM_017757.3(ZNF407):c.3075T>C (p.Ser1025=)
|
rs78076450
|
0.00682
|
|
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=)
|
rs143750836
|
0.00681
|
|
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_000516.7(GNAS):c.951C>T (p.Arg317=)
|
rs75561530
|
0.00680
|
|
NM_001848.3(COL6A1):c.3054C>T (p.His1018=)
|
rs141237809
|
0.00680
|
|
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly)
|
rs34114147
|
0.00680
|
|
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)
|
rs147189192
|
0.00679
|
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
|
NM_003597.5(KLF11):c.429C>T (p.Ala143=)
|
rs113903638
|
0.00679
|
|
NM_006231.4(POLE):c.1470C>T (p.Asp490=)
|
rs5744777
|
0.00679
|
|
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg)
|
rs144534810
|
0.00679
|
|
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)
|
rs114472821
|
0.00679
|
|
NM_173689.7(CRB2):c.2709C>T (p.Arg903=)
|
rs116379540
|
0.00679
|
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
|
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)
|
rs2066831
|
0.00677
|
|
NM_005045.4(RELN):c.6078C>T (p.Asn2026=)
|
rs79610081
|
0.00676
|
|
NM_000038.6(APC):c.5265G>A (p.Ala1755=)
|
rs34506289
|
0.00675
|
|
NM_001127208.3(TET2):c.2599T>C (p.Tyr867His)
|
rs144386291
|
0.00675
|
|
NM_001206999.2(CIT):c.5868G>A (p.Pro1956=)
|
rs35431237
|
0.00675
|
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
|
NM_018036.7(ATG2B):c.4899C>T (p.Leu1633=)
|
rs35682045
|
0.00675
|
|
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=)
|
rs115227860
|
0.00675
|
|
NM_000264.5(PTCH1):c.1074T>C (p.His358=)
|
rs2066832
|
0.00674
|
|
NM_016373.4(WWOX):c.613C>A (p.His205Asn)
|
rs74860463
|
0.00674
|
|
NM_001374828.1(ARID1B):c.2137-3T>A
|
rs116661275
|
0.00673
|
|
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=)
|
rs117178504
|
0.00672
|
|
NM_032110.3(DMRTA2):c.1430G>A (p.Ser477Asn)
|
rs200890998
|
0.00672
|
|
NM_001127208.3(TET2):c.5167C>T (p.Pro1723Ser)
|
rs146348065
|
0.00671
|
|
NM_004836.6(EIF2AK3):c.-201A>G
|
rs144057685
|
0.00671
|
|
NM_018036.7(ATG2B):c.5139+9C>T
|
rs150538996
|
0.00671
|
|
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)
|
rs149416418
|
0.00671
|
|
NM_001142784.3(IL11RA):c.72C>T (p.Ser24=)
|
rs34893971
|
0.00670
|
|
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)
|
rs4986940
|
0.00670
|
|
NM_018993.4(RIN2):c.84C>T (p.Ile28=)
|
rs181853315
|
0.00670
|
|
NM_030632.3(ASXL3):c.3555T>C (p.Ser1185=)
|
rs61734143
|
0.00670
|
|
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)
|
rs146591126
|
0.00669
|
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00669
|
|
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)
|
rs148768851
|
0.00669
|
|
NM_022095.4(ZNF335):c.3180C>T (p.Pro1060=)
|
rs61729182
|
0.00669
|
|
NM_001129820.2(SLFN14):c.1583G>A (p.Arg528His)
|
rs147826084
|
0.00668
|
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
|
NM_201384.3(PLEC):c.7260G>A (p.Thr2420=)
|
rs34490562
|
0.00668
|
|
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)
|
rs72648258
|
0.00667
|
|
NM_001012339.3(DNAJC21):c.657G>A (p.Ala219=)
|
rs77480286
|
0.00666
|
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
|
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)
|
rs200121704
|
0.00665
|
|
NM_018136.5(ASPM):c.3742-10T>G
|
rs41299587
|
0.00665
|
|
NM_030787.4(CFHR5):c.429T>C (p.Thr143=)
|
rs140215003
|
0.00665
|
|
NM_000208.4(INSR):c.2683-5C>T
|
rs41306363
|
0.00664
|
|
NM_025077.4(TOE1):c.1176G>A (p.Leu392=)
|
rs149142910
|
0.00664
|
|
NM_000162.5(GCK):c.31G>A (p.Ala11Thr)
|
rs116093166
|
0.00663
|
|
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)
|
rs62637630
|
0.00663
|
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
|
NM_004722.4(AP4M1):c.228C>T (p.Pro76=)
|
rs41280965
|
0.00663
|
|
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met)
|
rs149468422
|
0.00662
|
|
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)
|
rs139815570
|
0.00662
|
|
NM_017563.5(IL17RD):c.1697C>T (p.Pro566Leu)
|
rs61742268
|
0.00659
|
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
|
NM_133444.3(ZNF526):c.501G>A (p.Thr167=)
|
rs57984044
|
0.00657
|
|
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=)
|
rs146358566
|
0.00657
|
|
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)
|
rs61749367
|
0.00656
|
|
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys)
|
rs61734948
|
0.00656
|
|
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=)
|
rs140843407
|
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_000361.3(THBD):c.1504G>C (p.Gly502Arg)
|
rs76135678
|
0.00655
|
|
NM_001042492.3(NF1):c.6393C>T (p.His2131=)
|
rs17881788
|
0.00655
|
|
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr)
|
rs144380633
|
0.00655
|
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
|
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn)
|
rs201636725
|
0.00654
|
|
NM_153240.5(NPHP3):c.1887+6G>A
|
rs79113972
|
0.00654
|
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
|
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu)
|
rs61753390
|
0.00653
|
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
|
NM_152743.4(BRAT1):c.993G>A (p.Thr331=)
|
rs76646873
|
0.00653
|
|
NM_006059.4(LAMC3):c.2352G>A (p.Arg784=)
|
rs35654564
|
0.00652
|
|
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=)
|
rs74986073
|
0.00651
|
|
NM_201384.3(PLEC):c.9966C>T (p.Val3322=)
|
rs35613096
|
0.00651
|
|
NM_000550.3(TYRP1):c.1082-8G>A
|
rs79992094
|
0.00650
|
|
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly)
|
rs45560241
|
0.00650
|
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
|
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser)
|
rs3741626
|
0.00649
|
|
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp)
|
rs79732150
|
0.00649
|
|
NM_032444.4(SLX4):c.1803G>A (p.Ser601=)
|
rs144892556
|
0.00649
|
|
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn)
|
rs116000545
|
0.00649
|
|
NM_000064.4(C3):c.1653G>T (p.Val551=)
|
rs344534
|
0.00648
|
|
NM_025074.7(FRAS1):c.10598G>A (p.Arg3533Gln)
|
rs115878217
|
0.00648
|
|
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val)
|
rs111851716
|
0.00648
|
|
NM_001382347.1(MYO5A):c.5409+4G>A
|
rs72734962
|
0.00647
|
|
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro)
|
rs35881595
|
0.00647
|
|
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_005432.4(XRCC3):c.281G>A (p.Arg94His)
|
rs3212057
|
0.00646
|
|
NM_021956.5(GRIK2):c.672T>C (p.Phe224=)
|
rs76072496
|
0.00646
|
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
|
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)
|
rs112955915
|
0.00645
|
|
NM_001190274.2(FBXO11):c.*1173A>T
|
rs2020906
|
0.00645
|
|
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg)
|
rs201962705
|
0.00645
|
|
NM_020921.4(NIN):c.2988G>A (p.Ala996=)
|
rs80291668
|
0.00645
|
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
|
NM_001987.5(ETV6):c.642G>A (p.Pro214=)
|
rs72550786
|
0.00644
|
|
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=)
|
rs61735819
|
0.00644
|
|
NM_016955.4(SEPSECS):c.935-5T>G
|
rs2302564
|
0.00644
|
|
NM_000059.4(BRCA2):c.-175C>T
|
rs55880202
|
0.00642
|
|
NM_001364905.1(LRBA):c.1513A>G (p.Ile505Val)
|
rs35612775
|
0.00642
|
|
NM_152393.4(KLHL40):c.1104C>T (p.Phe368=)
|
rs147863385
|
0.00642
|
|
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser)
|
rs114949291
|
0.00641
|
|
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
|
rs28626194
|
0.00641
|
|
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr)
|
rs61735358
|
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_004393.6(DAG1):c.259A>G (p.Ile87Val)
|
rs116717961
|
0.00640
|
|
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg)
|
rs35848602
|
0.00640
|
|
NM_016306.6(DNAJB11):c.226-3C>T
|
rs139260755
|
0.00639
|
|
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=)
|
rs116237011
|
0.00638
|
|
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=)
|
rs77617474
|
0.00638
|
|
NM_032444.4(SLX4):c.1755C>T (p.Pro585=)
|
rs114016359
|
0.00638
|
|
NM_201589.4(MAFA):c.451C>T (p.His151Tyr)
|
rs149797559
|
0.00638
|
|
NM_003611.3(OFD1):c.714T>C (p.Tyr238=)
|
rs139848884
|
0.00637
|
|
NM_018036.7(ATG2B):c.669C>T (p.Leu223=)
|
rs79662280
|
0.00637
|
|
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)
|
rs138127778
|
0.00637
|
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
|
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu)
|
rs139294803
|
0.00637
|
|
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)
|
rs35738915
|
0.00636
|
|
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00636
|
|
NM_022095.4(ZNF335):c.1963C>T (p.Pro655Ser)
|
rs117132825
|
0.00636
|
|
NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn)
|
rs144245019
|
0.00636
|
|
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=)
|
rs79935028
|
0.00635
|
|
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)
|
rs34119447
|
0.00635
|
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
|
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=)
|
rs150691758
|
0.00634
|
|
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)
|
rs113053616
|
0.00634
|
|
NM_002666.5(PLIN1):c.812C>T (p.Ala271Val)
|
rs58361219
|
0.00633
|
|
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)
|
rs146578303
|
0.00633
|
|
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val)
|
rs35378260
|
0.00633
|
|
NM_003159.2(CDKL5):c.-391G>T
|
rs191864898
|
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_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=)
|
rs7049358
|
0.00631
|
|
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=)
|
rs61750378
|
0.00631
|
|
NM_030928.4(CDT1):c.435G>A (p.Gln145=)
|
rs3218731
|
0.00631
|
|
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala)
|
rs34837068
|
0.00631
|
|
NM_003611.3(OFD1):c.1020G>A (p.Glu340=)
|
rs5979959
|
0.00630
|
|
NM_182914.3(SYNE2):c.2934A>G (p.Glu978=)
|
rs34001379
|
0.00630
|
|
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)
|
rs11915053
|
0.00629
|
|
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)
|
rs146072491
|
0.00628
|
|
NM_002666.5(PLIN1):c.1139C>T (p.Ala380Val)
|
rs146385147
|
0.00628
|
|
NM_003922.4(HERC1):c.8088A>G (p.Thr2696=)
|
rs76114496
|
0.00627
|
|
NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=)
|
rs61742927
|
0.00627
|
|
NM_199242.3(UNC13D):c.753+3G>A
|
rs116229331
|
0.00627
|
|
NM_182914.3(SYNE2):c.5517A>T (p.Leu1839Phe)
|
rs35883188
|
0.00626
|
|
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=)
|
rs114810692
|
0.00625
|
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
|
NM_001291415.2(KDM6A):c.1897A>G (p.Thr633Ala)
|
rs34922269
|
0.00625
|
|
NM_001366057.1(OTUD4):c.3003T>A (p.Ala1001=)
|
rs147253069
|
0.00625
|
|
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)
|
rs2020957
|
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_152743.4(BRAT1):c.1884C>T (p.Ala628=)
|
rs142346283
|
0.00625
|
|
NM_174916.3(UBR1):c.4938C>T (p.Asn1646=)
|
rs35996841
|
0.00625
|
|
NM_175875.5(SIX5):c.213G>T (p.Gly71=)
|
rs570333735
|
0.00625
|
|
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=)
|
rs140084263
|
0.00624
|
|
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)
|
rs34989098
|
0.00624
|
|
NM_002582.4(PARN):c.1690G>A (p.Val564Ile)
|
rs35722504
|
0.00623
|
|
NM_012452.3(TNFRSF13B):c.61+10C>T
|
rs148297590
|
0.00621
|
|
NM_020921.4(NIN):c.6068A>G (p.Asn2023Ser)
|
rs61747997
|
0.00620
|
|
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly)
|
rs34982958
|
0.00620
|
|
NM_002843.4(PTPRJ):c.1253G>A (p.Arg418His)
|
rs61739179
|
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_030928.4(CDT1):c.1367A>C (p.Glu456Ala)
|
rs3218729
|
0.00618
|
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
|
NM_017841.4(SDHAF2):c.*12C>T
|
rs113652589
|
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_000207.3(INS):c.188-16C>T
|
rs5507
|
0.00616
|
|
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_001201550.3(CFHR4):c.103T>C (p.Tyr35His)
|
rs138792300
|
0.00616
|
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
|
NM_004304.5(ALK):c.1464C>T (p.Gly488=)
|
rs56165377
|
0.00615
|
|
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln)
|
rs145890370
|
0.00615
|
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
|
NM_203447.4(DOCK8):c.2862A>T (p.Pro954=)
|
rs117610764
|
0.00615
|
|
NM_000233.4(LHCGR):c.622G>A (p.Val208Ile)
|
rs61996321
|
0.00614
|
|
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys)
|
rs9332772
|
0.00614
|
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
|
NM_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
|
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=)
|
rs116134831
|
0.00613
|
|
NM_024642.5(GALNT12):c.579A>G (p.Gly193=)
|
rs146370762
|
0.00613
|
|
NM_001128840.3(CACNA1D):c.1350G>A (p.Pro450=)
|
rs35434249
|
0.00612
|
|
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=)
|
rs181646656
|
0.00612
|
|
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met)
|
rs114128928
|
0.00612
|
|
NM_032444.4(SLX4):c.90C>T (p.Ser30=)
|
rs118089506
|
0.00612
|
|
NM_138501.6(TECR):c.16-15G>A
|
rs113855270
|
0.00612
|
|
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=)
|
rs140852252
|
0.00612
|
|
NM_004525.3(LRP2):c.923-6G>A
|
rs144147038
|
0.00611
|
|
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)
|
rs62625033
|
0.00610
|
|
NM_182914.3(SYNE2):c.2026A>G (p.Lys676Glu)
|
rs78191145
|
0.00610
|
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
|
NM_000516.7(GNAS):c.384G>A (p.Val128=)
|
rs3730166
|
0.00609
|
|
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)
|
rs72768728
|
0.00609
|
|
NM_007254.4(PNKP):c.*15C>T
|
rs1050332
|
0.00609
|
|
NM_145207.3(AFG2A):c.2485G>T (p.Asp829Tyr)
|
rs35206443
|
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_000204.5(CFI):c.315A>T (p.Thr105=)
|
rs61745205
|
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.573C>T (p.Asp191=)
|
rs892054
|
0.00607
|
|
NM_001009999.3(KDM1A):c.136G>A (p.Gly46Ser)
|
rs144822945
|
0.00607
|
|
NM_000043.6(FAS):c.183G>A (p.Lys61=)
|
rs3218613
|
0.00606
|
|
NM_015662.3(IFT172):c.2858G>A (p.Arg953His)
|
rs704793
|
0.00606
|
|
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00605
|
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
|
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser)
|
rs115892604
|
0.00605
|
|
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)
|
rs184420466
|
0.00604
|
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
|
NM_001037.5(SCN1B):c.-9C>A
|
rs66671189
|
0.00603
|
|
NM_005263.5(GFI1):c.718G>C (p.Glu240Gln)
|
rs6666973
|
0.00603
|
|
NM_001080414.4(CCDC88C):c.754C>G (p.Leu252Val)
|
rs61745576
|
0.00602
|
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
|
NM_005373.3(MPL):c.1309-10C>T
|
rs139486615
|
0.00602
|
|
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val)
|
rs116775947
|
0.00602
|
|
NM_017757.3(ZNF407):c.6007G>A (p.Glu2003Lys)
|
rs150419019
|
0.00602
|
|
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg)
|
rs34592408
|
0.00601
|
|
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser)
|
rs147103646
|
0.00601
|
|
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=)
|
rs34735741
|
0.00600
|
|
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)
|
rs56355831
|
0.00599
|
|
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)
|
rs76756898
|
0.00599
|
|
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala)
|
rs117804715
|
0.00599
|
|
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val)
|
rs146253630
|
0.00599
|
|
NM_015102.5(NPHP4):c.1442-7C>T
|
rs146078470
|
0.00599
|
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
|
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys)
|
rs61731910
|
0.00599
|
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
|
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser)
|
rs139883132
|
0.00597
|
|
NM_005739.4(RASGRP1):c.1446T>C (p.Tyr482=)
|
rs77995194
|
0.00597
|
|
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg)
|
rs139415849
|
0.00597
|
|
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)
|
rs148450315
|
0.00596
|
|
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
|
rs114661695
|
0.00596
|
|
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe)
|
rs141771795
|
0.00596
|
|
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)
|
rs62000429
|
0.00596
|
|
NM_001367721.1(CASK):c.2040-9A>G
|
rs138290714
|
0.00595
|
|
NM_022725.4(FANCF):c.557C>T (p.Ala186Val)
|
rs113910234
|
0.00595
|
|
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)
|
rs59915619
|
0.00594
|
|
NM_001080510.5(METTL23):c.496G>A (p.Asp166Asn)
|
rs138247613
|
0.00593
|
|
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=)
|
rs61730217
|
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_138982.4(MAPK10):c.339C>T (p.Val113=)
|
rs28760360
|
0.00592
|
|
NM_001069.3(TUBB2A):c.504C>T (p.Ser168=)
|
rs147339483
|
0.00591
|
|
NM_001254.4(CDC6):c.896C>T (p.Thr299Met)
|
rs4135013
|
0.00591
|
|
NM_001367721.1(CASK):c.363T>C (p.Tyr121=)
|
rs41431245
|
0.00591
|
|
NM_030928.4(CDT1):c.1472G>A (p.Ser491Asn)
|
rs146199695
|
0.00591
|
|
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys)
|
rs77675624
|
0.00591
|
|
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)
|
rs115070904
|
0.00590
|
|
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser)
|
rs34786733
|
0.00590
|
|
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)
|
rs34388030
|
0.00590
|
|
NM_173630.4(RTTN):c.6015C>T (p.Ala2005=)
|
rs117183725
|
0.00590
|
|
NM_001253852.3(AP4B1):c.1793-9C>G
|
rs17031980
|
0.00589
|
|
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)
|
rs114126795
|
0.00589
|
|
NM_014625.4(NPHS2):c.891G>A (p.Ala297=)
|
rs5005771
|
0.00589
|
|
NM_019066.5(MAGEL2):c.678T>G (p.Gly226=)
|
rs367737053
|
0.00589
|
|
NM_032043.3(BRIP1):c.206-21T>C
|
rs2048717
|
0.00589
|
|
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys)
|
rs146617729
|
0.00588
|
|
NM_198576.4(AGRN):c.3404A>G (p.Gln1135Arg)
|
rs142416636
|
0.00588
|
|
NM_001211.6(BUB1B):c.348T>C (p.Tyr116=)
|
rs28989189
|
0.00587
|
|
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)
|
rs80227512
|
0.00587
|
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
|
NM_001312909.2(FAM111A):c.1299A>G (p.Ile433Met)
|
rs114634830
|
0.00586
|
|
NM_002666.5(PLIN1):c.1043C>T (p.Ser348Leu)
|
rs8179071
|
0.00586
|
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
|
NM_001024613.4(FEZF1):c.253A>G (p.Ser85Gly)
|
rs145467198
|
0.00585
|
|
NM_001318510.2(ACSL4):c.1698-10G>A
|
rs193072191
|
0.00585
|
|
NM_004268.5(MED17):c.251-8C>T
|
rs148912294
|
0.00585
|
|
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe)
|
rs140398533
|
0.00585
|
|
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)
|
rs147371999
|
0.00585
|
|
NM_000091.5(COL4A3):c.1398T>C (p.Asp466=)
|
rs145833114
|
0.00584
|
|
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu)
|
rs61746932
|
0.00584
|
|
NM_173630.4(RTTN):c.1921A>G (p.Ile641Val)
|
rs117502718
|
0.00584
|
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
|
NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
|
NM_001843.4(CNTN1):c.207C>T (p.Ala69=)
|
rs7297132
|
0.00583
|
|
NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp)
|
rs140943896
|
0.00583
|
|
NM_198576.4(AGRN):c.67G>C (p.Val23Leu)
|
rs201073369
|
0.00583
|
|
NM_000208.4(INSR):c.618C>T (p.Val206=)
|
rs56012021
|
0.00580
|
|
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu)
|
rs11910214
|
0.00580
|
|
NM_020987.5(ANK3):c.1047C>T (p.Cys349=)
|
rs117138204
|
0.00580
|
|
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp)
|
rs115464632
|
0.00579
|
|
NM_198291.3(SRC):c.1224T>C (p.Phe408=)
|
rs112739878
|
0.00579
|
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
|
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=)
|
rs116236999
|
0.00578
|
|
NM_004268.5(MED17):c.1500G>A (p.Glu500=)
|
rs76149470
|
0.00578
|
|
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)
|
rs72554028
|
0.00578
|
|
NM_014832.5(TBC1D4):c.3356T>C (p.Val1119Ala)
|
rs58232698
|
0.00578
|
|
NM_018263.6(ASXL2):c.3674G>C (p.Cys1225Ser)
|
rs144145474
|
0.00578
|
|
NM_002435.3(MPI):c.982C>T (p.Arg328Trp)
|
rs117089191
|
0.00577
|
|
NM_004304.5(ALK):c.1719C>T (p.Thr573=)
|
rs74830770
|
0.00577
|
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
|
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys)
|
rs115847686
|
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_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
|
NM_006757.4(TNNT3):c.414G>A (p.Glu138=)
|
rs2292470
|
0.00576
|
|
NM_001130438.3(SPTAN1):c.3520-14C>G
|
rs142682344
|
0.00575
|
|
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe)
|
rs77314619
|
0.00575
|
|
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)
|
rs201050491
|
0.00575
|
|
NM_022725.4(FANCF):c.*1879T>C
|
rs45553340
|
0.00575
|
|
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser)
|
rs111738042
|
0.00575
|
|
NM_173689.7(CRB2):c.3325C>G (p.His1109Asp)
|
rs185968694
|
0.00575
|
|
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)
|
rs11540832
|
0.00574
|
|
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile)
|
rs112951498
|
0.00574
|
|
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)
|
rs11569534
|
0.00573
|
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
0.00573
|
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
|
NM_006031.6(PCNT):c.8752-5A>C
|
rs149444205
|
0.00573
|
|
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala)
|
rs115193744
|
0.00573
|
|
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg)
|
rs12895357
|
0.00572
|
|
NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser)
|
rs571264557
|
0.00572
|
|
NM_000419.5(ITGA2B):c.1848G>A (p.Val616=)
|
rs79289329
|
0.00571
|
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
|
NM_014762.4(DHCR24):c.1522G>A (p.Asp508Asn)
|
rs11555496
|
0.00570
|
|
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu)
|
rs17216663
|
0.00569
|
|
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)
|
rs34132016
|
0.00569
|
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
|
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His)
|
rs115423936
|
0.00567
|
|
NM_002067.5(GNA11):c.321+9G>A
|
rs143987260
|
0.00567
|
|
NM_182914.3(SYNE2):c.14430A>G (p.Thr4810=)
|
rs34248042
|
0.00566
|
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
|
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=)
|
rs11851173
|
0.00565
|
|
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=)
|
rs73248508
|
0.00565
|
|
NM_002519.3(NPAT):c.218-9A>G
|
rs529632
|
0.00565
|
|
NM_182914.3(SYNE2):c.16522T>A (p.Ser5508Thr)
|
rs35190322
|
0.00565
|
|
NM_001166108.2(PALLD):c.3297T>C (p.Tyr1099=)
|
rs114593924
|
0.00564
|
|
NM_004260.4(RECQL4):c.309G>A (p.Pro103=)
|
rs4251688
|
0.00564
|
|
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=)
|
rs142144538
|
0.00564
|
|
NM_020066.5(FMN2):c.2886A>G (p.Ala962=)
|
rs199866405
|
0.00564
|
|
NM_020987.5(ANK3):c.2544T>C (p.Asp848=)
|
rs60764245
|
0.00564
|
|
NM_173630.4(RTTN):c.2466A>G (p.Arg822=)
|
rs115470168
|
0.00564
|
|
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr)
|
rs74012142
|
0.00563
|
|
NM_173689.7(CRB2):c.278G>A (p.Arg93His)
|
rs138381817
|
0.00563
|
|
NM_000939.4(POMC):c.18C>T (p.Cys6=)
|
rs8192605
|
0.00562
|
|
NM_001171613.2(PREPL):c.1855G>A (p.Glu619Lys)
|
rs149012504
|
0.00562
|
|
NM_001377304.1(GFI1B):c.238+7C>T
|
rs11793702
|
0.00562
|
|
NM_032415.7(CARD11):c.1212G>A (p.Arg404=)
|
rs142108678
|
0.00562
|
|
NM_019066.5(MAGEL2):c.2692A>G (p.Ser898Gly)
|
rs180690391
|
0.00561
|
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
|
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=)
|
rs55740606
|
0.00560
|
|
NM_001206999.2(CIT):c.5955G>T (p.Pro1985=)
|
rs139121341
|
0.00560
|
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
|
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met)
|
rs34355135
|
0.00560
|
|
NM_024685.4(BBS10):c.966T>C (p.Tyr322=)
|
rs139053702
|
0.00560
|
|
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)
|
rs79182085
|
0.00560
|
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
|
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)
|
rs117995220
|
0.00559
|
|
NM_005045.4(RELN):c.621C>T (p.Asp207=)
|
rs114627891
|
0.00558
|
|
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)
|
rs140734968
|
0.00558
|
|
NM_000135.4(FANCA):c.1359+10C>T
|
rs34159559
|
0.00557
|
|
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=)
|
rs34948955
|
0.00557
|
|
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=)
|
rs149148763
|
0.00557
|
|
NM_018036.7(ATG2B):c.1360G>A (p.Val454Met)
|
rs117507139
|
0.00556
|
|
NM_173689.7(CRB2):c.205C>T (p.Arg69Trp)
|
rs36035964
|
0.00556
|
|
NM_006245.4(PPP2R5D):c.1284T>C (p.Asn428=)
|
rs114970216
|
0.00555
|
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00555
|
|
NM_000540.3(RYR1):c.8068-14C>T
|
rs57376136
|
0.00554
|
|
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=)
|
rs139822454
|
0.00554
|
|
NM_001109809.5(ZFP57):c.1086T>C (p.Thr362=)
|
rs61730326
|
0.00553
|
|
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=)
|
rs61730328
|
0.00553
|
|
NM_006766.5(KAT6A):c.5379G>A (p.Gln1793=)
|
rs34566148
|
0.00553
|
|
NM_000939.4(POMC):c.641A>G (p.Glu214Gly)
|
rs80326661
|
0.00552
|
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
|
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=)
|
rs115428827
|
0.00551
|
|
NM_020461.4(TUBGCP6):c.3396T>C (p.Asn1132=)
|
rs879175668
|
0.00551
|
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
|
NM_174916.3(UBR1):c.4834A>G (p.Arg1612Gly)
|
rs78948790
|
0.00551
|
|
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His)
|
rs34532796
|
0.00550
|
|
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=)
|
rs35556524
|
0.00550
|
|
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)
|
rs5745068
|
0.00550
|
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
|
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=)
|
rs139718656
|
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_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090
|
0.00548
|
|
NM_005591.4(MRE11):c.2092A>G (p.Met698Val)
|
rs1805362
|
0.00548
|
|
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val)
|
rs34456867
|
0.00548
|
|
NM_018013.4(SOBP):c.1615A>G (p.Ile539Val)
|
rs146747167
|
0.00548
|
|
NM_173630.4(RTTN):c.3581A>G (p.Glu1194Gly)
|
rs34533087
|
0.00548
|
|
NM_198291.3(SRC):c.449+9C>T
|
rs56182609
|
0.00548
|
|
NM_033026.6(PCLO):c.7605C>T (p.Gly2535=)
|
rs139287941
|
0.00547
|
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00546
|
|
NM_003072.5(SMARCA4):c.1419+7T>C
|
rs112977340
|
0.00546
|
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
|
NM_020207.7(ERCC6L2):c.3076G>C (p.Val1026Leu)
|
rs149922601
|
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_001082486.1(ACD):c.162C>T (p.Pro54=)
|
rs73597595
|
0.00544
|
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
|
NM_001353788.2(APBA2):c.1815G>A (p.Pro605=)
|
rs140055297
|
0.00544
|
|
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=)
|
rs79442861
|
0.00543
|
|
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=)
|
rs10208681
|
0.00543
|
|
NM_006059.4(LAMC3):c.786G>A (p.Val262=)
|
rs2275133
|
0.00543
|
|
NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His)
|
rs55723436
|
0.00543
|
|
NM_015631.6(TCTN3):c.630T>C (p.Ala210=)
|
rs41299157
|
0.00543
|
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
|
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=)
|
rs150107667
|
0.00542
|
|
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val)
|
rs9282573
|
0.00542
|
|
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=)
|
rs61740119
|
0.00542
|
|
NM_000057.4(BLM):c.2075-12G>T
|
rs28385027
|
0.00541
|
|
NM_001048174.2(MUTYH):c.421-4A>G
|
rs201678305
|
0.00541
|
|
NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu)
|
rs146423225
|
0.00541
|
|
NM_173630.4(RTTN):c.183G>A (p.Lys61=)
|
rs34922729
|
0.00541
|
|
NM_178012.5(TUBB2B):c.330C>T (p.Ala110=)
|
rs141251993
|
0.00541
|
|
NM_001143992.2(WRAP53):c.1482A>G (p.Glu494=)
|
rs140360074
|
0.00540
|
|
NM_002485.5(NBN):c.37+11A>G
|
rs115032431
|
0.00540
|
|
NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn)
|
rs34678569
|
0.00540
|
|
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)
|
rs73113975
|
0.00540
|
|
NM_016343.4(CENPF):c.1145G>A (p.Arg382Lys)
|
rs114338555
|
0.00540
|
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
|
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp)
|
rs116535684
|
0.00539
|
|
NM_001378778.1(MPDZ):c.4558-8C>A
|
rs77381767
|
0.00539
|
|
NM_198428.3(BBS9):c.1110C>T (p.Asn370=)
|
rs61753524
|
0.00539
|
|
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=)
|
rs45600931
|
0.00538
|
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
|
NM_005879.3(TRAIP):c.303G>A (p.Gln101=)
|
rs145932323
|
0.00538
|
|
NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile)
|
rs146689929
|
0.00538
|
|
NM_018993.4(RIN2):c.965G>A (p.Ser322Asn)
|
rs199693970
|
0.00538
|
|
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=)
|
rs115338154
|
0.00537
|
|
NM_005876.5(SPEG):c.4730-4C>T
|
rs79386296
|
0.00537
|
|
NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=)
|
rs77925703
|
0.00537
|
|
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
0.00536
|
|
NM_000439.5(PCSK1):c.397-10T>C
|
rs142423997
|
0.00535
|
|
NM_001267550.2(TTN):c.42024+6T>C
|
rs140002940
|
0.00535
|
|
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=)
|
rs115211871
|
0.00535
|
|
NM_005045.4(RELN):c.1075G>A (p.Val359Ile)
|
rs114926265
|
0.00535
|
|
NM_001273.5(CHD4):c.5292T>C (p.Pro1764=)
|
rs71584868
|
0.00534
|
|
NM_003922.4(HERC1):c.2694C>T (p.His898=)
|
rs78998206
|
0.00533
|
|
NM_017654.4(SAMD9):c.1398A>C (p.Pro466=)
|
rs138066899
|
0.00533
|
|
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)
|
rs149814240
|
0.00533
|
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
|
NM_001194998.2(CEP152):c.1909-8G>C
|
rs116089174
|
0.00531
|
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
|
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)
|
rs115623439
|
0.00531
|
|
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser)
|
rs41312157
|
0.00531
|
|
NM_153252.5(BRWD3):c.597A>C (p.Ser199=)
|
rs142085721
|
0.00531
|
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
|
NM_020717.5(SHROOM4):c.96T>C (p.Cys32=)
|
rs112588837
|
0.00530
|
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
|
NM_000043.6(FAS):c.369G>A (p.Gln123=)
|
rs28362318
|
0.00529
|
|
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)
|
rs11554412
|
0.00529
|
|
NM_007118.4(TRIO):c.2811C>G (p.Ala937=)
|
rs143042118
|
0.00529
|
|
NM_145064.3(STAC3):c.1023G>C (p.Ala341=)
|
rs61747067
|
0.00529
|
|
NM_000458.3(HNF1B):c.-178G>A
|
rs148442901
|
0.00528
|
|
NM_001143992.2(WRAP53):c.1641G>T (p.Leu547=)
|
rs146994329
|
0.00528
|
|
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)
|
rs75248449
|
0.00528
|
|
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe)
|
rs145976466
|
0.00528
|
|
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met)
|
rs150912982
|
0.00528
|
|
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)
|
rs6413464
|
0.00527
|
|
NM_001008537.3(NEXMIF):c.3798C>T (p.Gly1266=)
|
rs149185175
|
0.00527
|
|
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly)
|
rs111292798
|
0.00526
|
|
NM_001830.4(CLCN4):c.2184G>A (p.Thr728=)
|
rs34200704
|
0.00526
|
|
NM_014425.5(INVS):c.740A>G (p.Asn247Ser)
|
rs41312220
|
0.00526
|
|
NM_017721.5(CC2D1A):c.1974C>T (p.Leu658=)
|
rs147905122
|
0.00526
|
|
NM_031483.7(ITCH):c.1146A>G (p.Gln382=)
|
rs141828786
|
0.00526
|
|
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)
|
rs34249695
|
0.00525
|
|
NM_002948.5(RPL15):c.75C>G (p.Val25=)
|
rs35629664
|
0.00525
|
|
NM_014915.2(ANKRD26):c.-184G>T
|
rs527666933
|
0.00525
|
|
NM_001206999.2(CIT):c.4224C>T (p.Asn1408=)
|
rs34105832
|
0.00524
|
|
NM_001493.3(GDI1):c.154-3C>T
|
rs113696246
|
0.00524
|
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
|
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp)
|
rs141361080
|
0.00523
|
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
|
NM_015662.3(IFT172):c.4428+5C>G
|
rs114235369
|
0.00521
|
|
NM_015634.4(KIFBP):c.1761T>C (p.Pro587=)
|
rs41279644
|
0.00520
|
|
NM_001291303.3(FAT4):c.12986A>G (p.Asp4329Gly)
|
rs114234553
|
0.00519
|
|
NM_000135.4(FANCA):c.1826+12C>T
|
rs183513839
|
0.00518
|
|
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_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
|
NM_016343.4(CENPF):c.7753G>A (p.Val2585Met)
|
rs62636591
|
0.00518
|
|
NM_138386.3(NAF1):c.266C>T (p.Ser89Leu)
|
rs35063973
|
0.00518
|
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
|
NM_001102401.4(TTI2):c.118C>T (p.Pro40Ser)
|
rs78781527
|
0.00517
|
|
NM_001715.3(BLK):c.335T>C (p.Phe112Ser)
|
rs115068920
|
0.00517
|
|
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)
|
rs146503597
|
0.00517
|
|
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
|
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser)
|
rs138031468
|
0.00517
|
|
NM_000553.6(WRN):c.1725T>C (p.Tyr575=)
|
rs13438802
|
0.00516
|
|
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)
|
rs56044609
|
0.00516
|
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
|
NM_005327.7(HADH):c.275T>G (p.Phe92Cys)
|
rs61735992
|
0.00516
|
|
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp)
|
rs144471022
|
0.00516
|
|
NM_006766.5(KAT6A):c.2487A>G (p.Val829=)
|
rs10104089
|
0.00516
|
|
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)
|
rs28730855
|
0.00515
|
|
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)
|
rs115913736
|
0.00515
|
|
NM_201525.4(ADGRG1):c.504C>T (p.Ala168=)
|
rs113005540
|
0.00515
|
|
NM_001039591.3(USP9X):c.3028-7A>G
|
rs115310559
|
0.00514
|
|
NM_007294.4(BRCA1):c.5406+8T>C
|
rs55946644
|
0.00514
|
|
NM_203447.4(DOCK8):c.5154C>T (p.Cys1718=)
|
rs140431229
|
0.00514
|
|
NM_004036.5(ADCY3):c.2495+8C>T
|
rs116538472
|
0.00513
|
|
NM_006005.3(WFS1):c.2247G>A (p.Thr749=)
|
rs75096624
|
0.00513
|
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
0.00513
|
|
NM_000553.6(WRN):c.1788T>C (p.Ser596=)
|
rs13438803
|
0.00512
|
|
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile)
|
rs35578974
|
0.00512
|
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
|
NM_024598.4(USB1):c.344G>A (p.Arg115Lys)
|
rs35025252
|
0.00512
|
|
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile)
|
rs61755718
|
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_001348800.3(ZBTB20):c.1318G>A (p.Glu440Lys)
|
rs138924453
|
0.00511
|
|
NM_012301.4(MAGI2):c.893A>G (p.Asn298Ser)
|
rs149573681
|
0.00511
|
|
NM_022095.4(ZNF335):c.2821G>A (p.Ala941Thr)
|
rs116247914
|
0.00511
|
|
NM_024529.5(CDC73):c.1185A>G (p.Gln395=)
|
rs116358657
|
0.00511
|
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
|
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)
|
rs78457123
|
0.00511
|
|
NM_001194998.2(CEP152):c.1783-30T>C
|
rs74012146
|
0.00510
|
|
NM_007294.4(BRCA1):c.-192T>C
|
rs113323025
|
0.00510
|
|
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=)
|
rs116006955
|
0.00510
|
|
NM_020921.4(NIN):c.4395T>C (p.Thr1465=)
|
rs74594049
|
0.00510
|
|
NM_144508.5(KNL1):c.2014A>C (p.Ile672Leu)
|
rs73394756
|
0.00510
|
|
NM_000135.4(FANCA):c.21G>T (p.Pro7=)
|
rs115856189
|
0.00509
|
|
NM_000525.4(KCNJ11):c.108G>A (p.Val36=)
|
rs112070496
|
0.00509
|
|
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=)
|
rs2228951
|
0.00509
|
|
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=)
|
rs78253128
|
0.00509
|
|
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=)
|
rs148170949
|
0.00509
|
|
NM_004933.3(CDH15):c.718C>T (p.Leu240Phe)
|
rs142647750
|
0.00509
|
|
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=)
|
rs35450031
|
0.00509
|
|
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile)
|
rs146624866
|
0.00508
|
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
|
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=)
|
rs114430490
|
0.00507
|
|
NM_005045.4(RELN):c.6084C>T (p.Gly2028=)
|
rs114019779
|
0.00507
|
|
NM_198252.3(GSN):c.382G>A (p.Val128Met)
|
rs41305623
|
0.00507
|
|
NM_001940.4(ATN1):c.408C>T (p.Tyr136=)
|
rs147993402
|
0.00506
|
|
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=)
|
rs139587368
|
0.00506
|
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
|
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe)
|
rs143708376
|
0.00505
|
|
NM_005546.4(ITK):c.1398G>T (p.Val466=)
|
rs17595896
|
0.00505
|
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
|
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)
|
rs79970751
|
0.00503
|
|
NM_001378030.1(CCDC78):c.803C>T (p.Thr268Met)
|
rs77707419
|
0.00503
|
|
NM_004036.5(ADCY3):c.1593C>T (p.Thr531=)
|
rs112242890
|
0.00503
|
|
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)
|
rs61753389
|
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_007347.5(AP4E1):c.2755A>G (p.Met919Val)
|
rs115188375
|
0.00503
|
|
NM_012233.2(RAB3GAP1):c.-53C>G
|
rs78560065
|
0.00503
|
|
NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln)
|
rs141939315
|
0.00503
|
|
NM_182914.3(SYNE2):c.12612C>T (p.Gly4204=)
|
rs114604397
|
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_004268.5(MED17):c.690C>T (p.Leu230=)
|
rs116727804
|
0.00502
|
|
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=)
|
rs112551069
|
0.00501
|
|
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro)
|
rs145477191
|
0.00501
|
|
NM_002519.3(NPAT):c.1506T>G (p.Pro502=)
|
rs61913698
|
0.00501
|
|
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)
|
rs147404470
|
0.00501
|
|
NM_012096.3(APPL1):c.256T>C (p.Leu86=)
|
rs147166062
|
0.00501
|
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
|
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)
|
rs41316003
|
0.00500
|
|
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)
|
rs72782753
|
0.00500
|
|
NM_194292.3(SASS6):c.312-4A>C
|
rs149440197
|
0.00500
|
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
0.00499
|
|
NM_001366110.1(PAX4):c.646-7C>T
|
rs11977988
|
0.00498
|
|
NM_006231.4(POLE):c.1359+9G>A
|
rs75135381
|
0.00498
|
|
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val)
|
rs149640235
|
0.00498
|
|
NM_139343.3(BIN1):c.1132-7T>C
|
rs115938552
|
0.00498
|
|
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)
|
rs79087668
|
0.00498
|
|
NM_000038.6(APC):c.5250C>G (p.Val1750=)
|
rs2229997
|
0.00497
|
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
|
NM_173630.4(RTTN):c.6636T>C (p.Tyr2212=)
|
rs35558429
|
0.00497
|
|
NM_000057.4(BLM):c.615G>A (p.Lys205=)
|
rs28903082
|
0.00496
|
|
NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=)
|
rs28365112
|
0.00496
|
|
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His)
|
rs2307293
|
0.00496
|
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
|
NM_002519.3(NPAT):c.3580G>T (p.Gly1194Cys)
|
rs181187590
|
0.00496
|
|
NM_173630.4(RTTN):c.227C>T (p.Pro76Leu)
|
rs114765225
|
0.00496
|
|
NM_000251.3(MSH2):c.984C>T (p.Ala328=)
|
rs4987189
|
0.00495
|
|
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile)
|
rs61752970
|
0.00495
|
|
NM_001360.3(DHCR7):c.99-10G>A
|
rs189549129
|
0.00495
|
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238
|
0.00495
|
|
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)
|
rs149313666
|
0.00495
|
|
NM_138501.6(TECR):c.813C>T (p.Ser271=)
|
rs141619383
|
0.00495
|
|
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg)
|
rs12327568
|
0.00494
|
|
NM_198291.3(SRC):c.1134G>A (p.Ala378=)
|
rs56408406
|
0.00494
|
|
NM_001077446.4(TSEN34):c.334C>G (p.Leu112Val)
|
rs17849378
|
0.00493
|
|
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu)
|
rs148425392
|
0.00493
|
|
NM_032638.5(GATA2):c.-54C>T
|
rs146660278
|
0.00493
|
|
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His)
|
rs145444272
|
0.00493
|
|
NM_000760.4(CSF3R):c.1213G>A (p.Glu405Lys)
|
rs3918019
|
0.00492
|
|
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu)
|
rs17216670
|
0.00492
|
|
NM_015192.4(PLCB1):c.1167+7T>C
|
rs45466294
|
0.00492
|
|
NM_173630.4(RTTN):c.4992G>C (p.Leu1664=)
|
rs34041767
|
0.00492
|
|
NM_006060.6(IKZF1):c.99C>A (p.Ile33=)
|
rs61732861
|
0.00491
|
|
NM_006420.3(ARFGEF2):c.423+3A>G
|
rs2295029
|
0.00491
|
|
NM_018036.7(ATG2B):c.1668A>G (p.Ser556=)
|
rs201230411
|
0.00491
|
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
|
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg)
|
rs188840960
|
0.00490
|
|
NM_005886.3(KATNB1):c.856-5T>G
|
rs200584307
|
0.00490
|
|
NM_000377.3(WAS):c.995T>C (p.Val332Ala)
|
rs2737799
|
0.00489
|
|
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu)
|
rs144603232
|
0.00489
|
|
NM_198904.4(GABRG2):c.717A>G (p.Gln239=)
|
rs78261481
|
0.00489
|
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
|
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)
|
rs116796602
|
0.00488
|
|
NM_024876.4(COQ8B):c.381G>A (p.Gly127=)
|
rs55895642
|
0.00488
|
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
|
NM_174936.4(PCSK9):c.1431C>T (p.Cys477=)
|
rs28362268
|
0.00488
|
|
NM_000080.4(CHRNE):c.*6A>G
|
rs55806270
|
0.00487
|
|
NM_002291.3(LAMB1):c.3012G>A (p.Thr1004=)
|
rs113725211
|
0.00487
|
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
|
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)
|
rs147891446
|
0.00486
|
|
NM_002691.4(POLD1):c.1275C>T (p.Ala425=)
|
rs3219392
|
0.00486
|
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
|
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)
|
rs115958467
|
0.00486
|
|
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)
|
rs115330112
|
0.00485
|
|
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)
|
rs115324397
|
0.00485
|
|
NM_000540.3(RYR1):c.873G>A (p.Ala291=)
|
rs2229140
|
0.00484
|
|
NM_001206999.2(CIT):c.3006C>T (p.Asn1002=)
|
rs79892909
|
0.00484
|
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
|
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser)
|
rs148097083
|
0.00484
|
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
|
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=)
|
rs79313758
|
0.00483
|
|
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=)
|
rs28730671
|
0.00483
|
|
NM_021956.5(GRIK2):c.2312-8T>G
|
rs180799513
|
0.00483
|
|
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)
|
rs111595697
|
0.00482
|
|
NM_005373.3(MPL):c.210G>A (p.Pro70=)
|
rs6086
|
0.00482
|
|
NM_015559.3(SETBP1):c.1170C>T (p.Ala390=)
|
rs8091231
|
0.00482
|
|
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)
|
rs61753399
|
0.00482
|
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
|
NM_001382391.1(CSPP1):c.-121A>G
|
rs181470846
|
0.00481
|
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
|
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu)
|
rs146866423
|
0.00481
|
|
NM_000548.5(TSC2):c.2239C>T (p.Leu747=)
|
rs45517221
|
0.00480
|
|
NM_014423.4(AFF4):c.819G>A (p.Glu273=)
|
rs141383886
|
0.00480
|
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
|
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=)
|
rs142315727
|
0.00478
|
|
NM_001379500.1(COL18A1):c.1390G>A (p.Asp464Asn)
|
rs61738822
|
0.00478
|
|
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)
|
rs143312971
|
0.00478
|
|
NM_006030.4(CACNA2D2):c.3393G>A (p.Pro1131=)
|
rs145772306
|
0.00478
|
|
NM_025074.7(FRAS1):c.10312G>A (p.Val3438Met)
|
rs34063631
|
0.00478
|
|
NM_152703.5(SAMD9L):c.1908C>T (p.Pro636=)
|
rs142642466
|
0.00478
|
|
NR_001566.1(TERC):n.228G>A
|
rs141686314
|
0.00478
|
|
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=)
|
rs150910683
|
0.00477
|
|
NM_022455.5(NSD1):c.1792T>C (p.Leu598=)
|
rs28932176
|
0.00477
|
|
NM_000064.4(C3):c.3970-8C>T
|
rs11569540
|
0.00476
|
|
NM_016222.4(DDX41):c.*74C>T
|
rs78923296
|
0.00476
|
|
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)
|
rs202057391
|
0.00476
|
|
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)
|
rs111315726
|
0.00476
|
|
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801
|
0.00476
|
|
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser)
|
rs375160616
|
0.00475
|
|
NM_003922.4(HERC1):c.6225+4C>T
|
rs141414233
|
0.00475
|
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
|
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)
|
rs117931394
|
0.00474
|
|
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp)
|
rs114744903
|
0.00474
|
|
NM_005105.5(RBM8A):c.240C>T (p.Val80=)
|
rs1806851
|
0.00473
|
|
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys)
|
rs61758995
|
0.00472
|
|
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser)
|
rs3087473
|
0.00472
|
|
NM_004826.4(ECEL1):c.51C>A (p.Val17=)
|
rs191331240
|
0.00472
|
|
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)
|
rs146292575
|
0.00472
|
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
|
NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met)
|
rs144600070
|
0.00471
|
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
|
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)
|
rs1799802
|
0.00471
|
|
NM_133642.5(LARGE1):c.892+50C>T
|
rs62225294
|
0.00471
|
|
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=)
|
rs13285348
|
0.00471
|
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
|
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)
|
rs62346982
|
0.00470
|
|
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser)
|
rs61743977
|
0.00470
|
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
|
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)
|
rs35209408
|
0.00470
|
|
NM_005026.5(PIK3CD):c.708G>A (p.Pro236=)
|
rs145697393
|
0.00469
|
|
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile)
|
rs2230017
|
0.00469
|
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
|
NM_004408.4(DNM1):c.357T>C (p.Pro119=)
|
rs77325628
|
0.00468
|
|
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=)
|
rs149633292
|
0.00468
|
|
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=)
|
rs139219896
|
0.00468
|
|
NM_000044.6(AR):c.1029T>C (p.Ser343=)
|
rs113983339
|
0.00467
|
|
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=)
|
rs142610625
|
0.00467
|
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
|
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=)
|
rs149580171
|
0.00467
|
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
|
NM_001199198.3(TBC1D23):c.1306+10T>C
|
rs41272633
|
0.00466
|
|
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser)
|
rs62636640
|
0.00466
|
|
NM_001199198.3(TBC1D23):c.423A>G (p.Pro141=)
|
rs62636641
|
0.00465
|
|
NM_005045.4(RELN):c.5775A>G (p.Arg1925=)
|
rs2711866
|
0.00464
|
|
NM_001040616.3(LINS1):c.1285C>T (p.Leu429=)
|
rs141962847
|
0.00463
|
|
NM_001972.4(ELANE):c.99C>T (p.Gly33=)
|
rs17216628
|
0.00463
|
|
NM_006013.5(RPL10):c.23+9T>A
|
rs2070820
|
0.00463
|
|
NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met)
|
rs34104386
|
0.00463
|
|
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val)
|
rs35977354
|
0.00462
|
|
NM_001364905.1(LRBA):c.3826-5A>G
|
rs114629781
|
0.00462
|
|
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)
|
rs141215006
|
0.00462
|
|
NM_017654.4(SAMD9):c.4666G>A (p.Ala1556Thr)
|
rs34896991
|
0.00462
|
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
|
NM_001083961.2(WDR62):c.2334-6C>A
|
rs138928852
|
0.00461
|
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
|
NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys)
|
rs34953692
|
0.00461
|
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
|
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)
|
rs140374206
|
0.00461
|
|
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)
|
rs61739895
|
0.00460
|
|
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)
|
rs145522204
|
0.00460
|
|
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=)
|
rs146387723
|
0.00460
|
|
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)
|
rs75639119
|
0.00460
|
|
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=)
|
rs61737684
|
0.00460
|
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
|
NM_001080449.3(DNA2):c.2713C>A (p.Gln905Lys)
|
rs181679245
|
0.00459
|
|
NM_006260.5(DNAJC3):c.1060G>C (p.Glu354Gln)
|
rs59892430
|
0.00459
|
|
NM_014832.5(TBC1D4):c.2254A>G (p.Thr752Ala)
|
rs149821147
|
0.00459
|
|
NM_016343.4(CENPF):c.6550G>A (p.Val2184Ile)
|
rs62623663
|
0.00459
|
|
NM_016343.4(CENPF):c.7544A>C (p.Gln2515Pro)
|
rs62636593
|
0.00459
|
|
NM_016734.3(PAX5):c.923C>T (p.Ala308Val)
|
rs35077960
|
0.00459
|
|
NM_020987.5(ANK3):c.7225T>C (p.Ser2409Pro)
|
rs148904927
|
0.00459
|
|
NM_001291415.2(KDM6A):c.3870T>C (p.Ala1290=)
|
rs142238688
|
0.00458
|
|
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile)
|
rs56086732
|
0.00458
|
|
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg)
|
rs34620165
|
0.00458
|
|
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met)
|
rs141932927
|
0.00458
|
|
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)
|
rs28363283
|
0.00457
|
|
NM_004456.5(EZH2):c.2028T>C (p.Asn676=)
|
rs115842196
|
0.00457
|
|
NM_015922.3(NSDHL):c.25A>G (p.Met9Val)
|
rs35529894
|
0.00457
|
|
NM_001754.5(RUNX1):c.183G>A (p.Pro61=)
|
rs76558016
|
0.00454
|
|
NM_003001.5(SDHC):c.354T>C (p.Phe118=)
|
rs61733156
|
0.00454
|
|
NM_005188.4(CBL):c.2710G>A (p.Val904Ile)
|
rs17122769
|
0.00454
|
|
NM_020207.7(ERCC6L2):c.407G>A (p.Gly136Glu)
|
rs61740729
|
0.00454
|
|
NM_130839.5(UBE3A):c.2124+9T>C
|
rs79328837
|
0.00454
|
|
NM_138386.3(NAF1):c.1348G>A (p.Gly450Ser)
|
rs200516616
|
0.00454
|
|
NM_016284.5(CNOT1):c.2971-10A>T
|
rs11860588
|
0.00453
|
|
NM_022455.5(NSD1):c.2169C>T (p.Thr723=)
|
rs11948062
|
0.00453
|
|
NM_000552.5(VWF):c.55+8C>A
|
rs114713980
|
0.00452
|
|
NM_001024613.4(FEZF1):c.1350G>A (p.Pro450=)
|
rs112066691
|
0.00452
|
|
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470
|
0.00452
|
|
NM_002582.4(PARN):c.840+6del
|
rs531994703
|
0.00452
|
|
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)
|
rs7052858
|
0.00452
|
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00451
|
|
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=)
|
rs141478957
|
0.00451
|
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519
|
0.00451
|
|
NM_002519.3(NPAT):c.861C>T (p.Asn287=)
|
rs34021883
|
0.00451
|
|
NM_004826.4(ECEL1):c.1656G>A (p.Lys552=)
|
rs1190429
|
0.00451
|
|
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=)
|
rs12140044
|
0.00451
|
|
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp)
|
rs61744639
|
0.00451
|
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00450
|
|
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)
|
rs111033304
|
0.00450
|
|
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val)
|
rs149125003
|
0.00450
|
|
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr)
|
rs28367453
|
0.00450
|
|
NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg)
|
rs200879436
|
0.00450
|
|
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=)
|
rs3027888
|
0.00450
|
|
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)
|
rs61757684
|
0.00449
|
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437
|
0.00449
|
|
NM_001379500.1(COL18A1):c.667C>T (p.Leu223=)
|
rs60162212
|
0.00449
|
|
NM_004260.4(RECQL4):c.195C>G (p.Leu65=)
|
rs369163654
|
0.00449
|
|
NM_173630.4(RTTN):c.5991T>C (p.Pro1997=)
|
rs34749812
|
0.00449
|
|
NM_000090.4(COL3A1):c.2022+5T>C
|
rs41263765
|
0.00448
|
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
|
NM_001126049.2(KLLN):c.392A>G (p.Asn131Ser)
|
rs147932146
|
0.00448
|
|
NM_001126049.2(KLLN):c.445T>A (p.Trp149Arg)
|
rs144811392
|
0.00448
|
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082
|
0.00448
|
|
NM_030928.4(CDT1):c.404C>T (p.Ala135Val)
|
rs3218725
|
0.00448
|
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460
|
0.00447
|
|
NM_003619.4(PRSS12):c.51A>G (p.Glu17=)
|
rs144853134
|
0.00447
|
|
NM_032833.5(PPP1R15B):c.1886C>G (p.Ser629Cys)
|
rs111725786
|
0.00447
|
|
NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=)
|
rs61736349
|
0.00446
|
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
|
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro)
|
rs55720916
|
0.00446
|
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
|
NM_000044.6(AR):c.324G>C (p.Leu108=)
|
rs147677446
|
0.00445
|
|
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)
|
rs145182838
|
0.00445
|
|
NM_005491.5(MAMLD1):c.*481G>A
|
rs182597797
|
0.00445
|
|
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser)
|
rs116520623
|
0.00445
|
|
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)
|
rs35647984
|
0.00445
|
|
NM_004523.4(KIF11):c.2771-6T>A
|
rs75876570
|
0.00444
|
|
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)
|
rs73481453
|
0.00444
|
|
NM_007363.5(NONO):c.1179G>T (p.Met393Ile)
|
rs138148374
|
0.00444
|
|
NM_012156.2(EPB41L1):c.1197C>T (p.Thr399=)
|
rs115743976
|
0.00444
|
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
|
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln)
|
rs34161789
|
0.00444
|
|
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr)
|
rs79915936
|
0.00444
|
|
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)
|
rs41263751
|
0.00443
|
|
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val)
|
rs78269740
|
0.00443
|
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
|
NM_004840.3(ARHGEF6):c.1480-3T>C
|
rs138342895
|
0.00442
|
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
|
NM_002768.5(CHMP1A):c.210C>T (p.Asp70=)
|
rs114931496
|
0.00440
|
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
|
NM_052989.3(IFT122):c.1993-8C>T
|
rs531091599
|
0.00439
|
|
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)
|
rs77731085
|
0.00439
|
|
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser)
|
rs112906840
|
0.00438
|
|
NM_152743.4(BRAT1):c.675C>T (p.Phe225=)
|
rs139443843
|
0.00438
|
|
NM_201525.4(ADGRG1):c.1933+10A>G
|
rs137936275
|
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_020699.4(GATAD2B):c.1469C>T (p.Ala490Val)
|
rs145131801
|
0.00437
|
|
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)
|
rs145756111
|
0.00437
|
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
|
NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile)
|
rs58174009
|
0.00436
|
|
NM_001130438.3(SPTAN1):c.652-6G>A
|
rs115815276
|
0.00436
|
|
NM_002473.6(MYH9):c.1083C>T (p.Asp361=)
|
rs56001030
|
0.00436
|
|
NM_006306.4(SMC1A):c.*14C>T
|
rs112727682
|
0.00436
|
|
NM_173560.4(RFX6):c.2176C>G (p.Arg726Gly)
|
rs144648002
|
0.00436
|
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
|
NM_001308093.3(GATA4):c.1224A>C (p.Pro408=)
|
rs7830178
|
0.00435
|
|
NM_005629.4(SLC6A8):c.1768-3C>T
|
rs150207268
|
0.00435
|
|
NM_018685.5(ANLN):c.2193G>A (p.Gln731=)
|
rs138189874
|
0.00435
|
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
|
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)
|
rs35690634
|
0.00435
|
|
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=)
|
rs139505007
|
0.00434
|
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
|
NM_020921.4(NIN):c.4837C>T (p.Arg1613Cys)
|
rs61755995
|
0.00434
|
|
NM_182914.3(SYNE2):c.6321C>T (p.Ser2107=)
|
rs143410137
|
0.00434
|
|
NM_001164508.2(NEB):c.2640C>T (p.Arg880=)
|
rs114959904
|
0.00433
|
|
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)
|
rs181733689
|
0.00433
|
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
|
NM_000135.4(FANCA):c.903G>T (p.Val301=)
|
rs56062548
|
0.00432
|
|
NM_030928.4(CDT1):c.292A>G (p.Ile98Val)
|
rs142692932
|
0.00432
|
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
|
NM_001025248.2(DUT):c.280+9G>A
|
rs567712706
|
0.00431
|
|
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)
|
rs35759441
|
0.00430
|
|
NM_000791.4(DHFR):c.-411G>A
|
rs201149584
|
0.00430
|
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
|
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)
|
rs142993240
|
0.00430
|
|
NM_007294.4(BRCA1):c.*750A>G
|
rs138782023
|
0.00430
|
|
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)
|
rs34642406
|
0.00430
|
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
|
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)
|
rs58093963
|
0.00429
|
|
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)
|
rs75145370
|
0.00429
|
|
NM_006206.6(PDGFRA):c.201C>T (p.Ser67=)
|
rs35805947
|
0.00429
|
|
NM_021922.3(FANCE):c.1572G>A (p.Arg524=)
|
rs115195341
|
0.00429
|
|
NM_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919
|
0.00429
|
|
NM_001004320.2(AGMO):c.598A>T (p.Ile200Phe)
|
rs146442781
|
0.00428
|
|
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)
|
rs138259457
|
0.00428
|
|
NM_002465.4(MYBPC1):c.608+9A>G
|
rs183524782
|
0.00428
|
|
NM_017654.4(SAMD9):c.257C>T (p.Ser86Phe)
|
rs147157740
|
0.00428
|
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
|
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met)
|
rs144637135
|
0.00427
|
|
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg)
|
rs113325473
|
0.00427
|
|
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met)
|
rs186848953
|
0.00427
|
|
NM_000352.4(ABCC8):c.-72G>A
|
rs541244107
|
0.00426
|
|
NM_001042492.3(NF1):c.2985G>C (p.Leu995=)
|
rs17881467
|
0.00426
|
|
NM_001077446.4(TSEN34):c.39G>A (p.Val13=)
|
rs184898622
|
0.00426
|
|
NM_001291415.2(KDM6A):c.3834T>C (p.His1278=)
|
rs138989066
|
0.00426
|
|
NM_001366110.1(PAX4):c.*190C>T
|
rs2233585
|
0.00426
|
|
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile)
|
rs199719452
|
0.00426
|
|
NM_002472.3(MYH8):c.805+9C>T
|
rs75468422
|
0.00426
|
|
NM_182895.5(SCARF2):c.1653C>T (p.Asp551=)
|
rs76472118
|
0.00426
|
|
NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu)
|
rs144620006
|
0.00426
|
|
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)
|
rs74315344
|
0.00425
|
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00425
|
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
|
NM_001367721.1(CASK):c.1125C>T (p.Phe375=)
|
rs141790702
|
0.00424
|
|
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=)
|
rs28900406
|
0.00423
|
|
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg)
|
rs141088838
|
0.00423
|
|
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala)
|
rs535090775
|
0.00423
|
|
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp)
|
rs141865394
|
0.00423
|
|
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=)
|
rs140004449
|
0.00422
|
|
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)
|
rs61741524
|
0.00422
|
|
NM_153252.5(BRWD3):c.33G>A (p.Glu11=)
|
rs139071237
|
0.00422
|
|
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)
|
rs2229035
|
0.00421
|
|
NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg)
|
rs114281792
|
0.00421
|
|
NM_001377304.1(GFI1B):c.576C>T (p.Phe192=)
|
rs150813342
|
0.00421
|
|
NM_003673.4(TCAP):c.191C>T (p.Ser64Leu)
|
rs45458802
|
0.00421
|
|
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val)
|
rs41291570
|
0.00421
|
|
NM_018451.5(CENPJ):c.3367-12T>C
|
rs3742163
|
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_000273.3(GPR143):c.570C>T (p.His190=)
|
rs61733440
|
0.00420
|
|
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile)
|
rs149244006
|
0.00420
|
|
NM_022095.4(ZNF335):c.3507C>T (p.His1169=)
|
rs141812371
|
0.00420
|
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
|
NM_021072.4(HCN1):c.1797A>G (p.Ser599=)
|
rs148932124
|
0.00419
|
|
NM_032833.5(PPP1R15B):c.430G>A (p.Glu144Lys)
|
rs4492688
|
0.00418
|
|
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)
|
rs78795178
|
0.00417
|
|
NM_006265.3(RAD21):c.938-11T>C
|
rs200333487
|
0.00417
|
|
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp)
|
rs142105943
|
0.00417
|
|
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=)
|
rs142331907
|
0.00417
|
|
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr)
|
rs117802609
|
0.00417
|
|
NM_175914.4(HNF4A):c.-278G>A
|
rs112444447
|
0.00417
|
|
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg)
|
rs143784823
|
0.00417
|
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
|
NM_000208.4(INSR):c.870C>T (p.His290=)
|
rs74483718
|
0.00416
|
|
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu)
|
rs35811023
|
0.00416
|
|
NM_001184.4(ATR):c.423T>C (p.Ile141=)
|
rs10935466
|
0.00416
|
|
NM_001715.3(BLK):c.753A>G (p.Gln251=)
|
rs76563369
|
0.00416
|
|
NM_002291.3(LAMB1):c.4221C>T (p.Ser1407=)
|
rs35082294
|
0.00416
|
|
NM_020987.5(ANK3):c.8508T>C (p.His2836=)
|
rs11815168
|
0.00416
|
|
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)
|
rs150547487
|
0.00416
|
|
NM_147127.5(EVC2):c.307T>C (p.Leu103=)
|
rs140877783
|
0.00416
|
|
NM_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
|
NM_001184.4(ATR):c.4764C>T (p.Leu1588=)
|
rs142240637
|
0.00415
|
|
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys)
|
rs150478342
|
0.00415
|
|
NM_000141.5(FGFR2):c.159G>A (p.Ala53=)
|
rs1047102
|
0.00414
|
|
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp)
|
rs146180912
|
0.00414
|
|
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn)
|
rs55724025
|
0.00414
|
|
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=)
|
rs12480346
|
0.00414
|
|
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=)
|
rs139619000
|
0.00414
|
|
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn)
|
rs148304857
|
0.00413
|
|
NM_021969.3(NR0B2):c.473G>A (p.Ser158Asn)
|
rs151014108
|
0.00413
|
|
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)
|
rs144720929
|
0.00412
|
|
NM_001813.3(CENPE):c.1912A>G (p.Lys638Glu)
|
rs114613121
|
0.00412
|
|
NM_003136.4(SRP54):c.48G>A (p.Ser16=)
|
rs17849754
|
0.00412
|
|
NM_005045.4(RELN):c.4986C>G (p.Thr1662=)
|
rs78221963
|
0.00412
|
|
NM_018036.7(ATG2B):c.1205G>A (p.Arg402His)
|
rs183527316
|
0.00412
|
|
NM_018263.6(ASXL2):c.1489G>A (p.Ala497Thr)
|
rs192716734
|
0.00412
|
|
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)
|
rs61753725
|
0.00412
|
|
NM_173689.7(CRB2):c.1428T>G (p.Thr476=)
|
rs142345530
|
0.00412
|
|
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn)
|
rs34219046
|
0.00411
|
|
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092
|
0.00411
|
|
NM_022081.6(HPS4):c.710C>T (p.Ala237Val)
|
rs77597168
|
0.00411
|
|
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=)
|
rs1054332
|
0.00411
|
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
|
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=)
|
rs184422577
|
0.00410
|
|
NM_001190417.2(ZNF674):c.1280A>G (p.His427Arg)
|
rs200552019
|
0.00410
|
|
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
|
NM_001807.6(CEL):c.432G>A (p.Leu144=)
|
rs115568146
|
0.00410
|
|
NM_001813.3(CENPE):c.4774A>C (p.Lys1592Gln)
|
rs61756292
|
0.00410
|
|
NM_003901.4(SGPL1):c.1693C>T (p.Pro565Ser)
|
rs77130902
|
0.00410
|
|
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His)
|
rs117843717
|
0.00410
|
|
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)
|
rs62185645
|
0.00410
|
|
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr)
|
rs148772854
|
0.00409
|
|
NM_001261826.3(AP3D1):c.2938-8A>G
|
rs143612937
|
0.00409
|
|
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=)
|
rs150027129
|
0.00408
|
|
NM_032415.7(CARD11):c.3019+6C>T
|
rs199705831
|
0.00408
|
|
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met)
|
rs111423173
|
0.00407
|
|
NM_007137.5(ZNF81):c.1495A>G (p.Ile499Val)
|
rs182239885
|
0.00407
|
|
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)
|
rs112775648
|
0.00406
|
|
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)
|
rs114734921
|
0.00406
|
|
NM_001378778.1(MPDZ):c.2580A>G (p.Leu860=)
|
rs34704118
|
0.00406
|
|
NM_007254.4(PNKP):c.1032G>A (p.Arg344=)
|
rs185452809
|
0.00406
|
|
NM_033026.6(PCLO):c.10146T>G (p.Thr3382=)
|
rs111241048
|
0.00406
|
|
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=)
|
rs74863634
|
0.00405
|
|
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala)
|
rs150918383
|
0.00405
|
|
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=)
|
rs1615676
|
0.00405
|
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
|
NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val)
|
rs74970544
|
0.00405
|
|
NM_000383.4(AIRE):c.595G>A (p.Val199Ile)
|
rs74162061
|
0.00404
|
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
|
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His)
|
rs35106300
|
0.00404
|
|
NM_153240.5(NPHP3):c.2089-9C>T
|
rs141397228
|
0.00404
|
|
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg)
|
rs146704802
|
0.00404
|
|
NM_000064.4(C3):c.588G>A (p.Pro196=)
|
rs150007726
|
0.00403
|
|
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)
|
rs138108344
|
0.00403
|
|
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=)
|
rs114077770
|
0.00403
|
|
NM_005634.3(SOX3):c.157G>C (p.Val53Leu)
|
rs200361128
|
0.00403
|
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
|
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=)
|
rs186547090
|
0.00403
|
|
NM_139343.3(BIN1):c.888C>T (p.Ser296=)
|
rs114833236
|
0.00403
|
|
NM_005357.4(LIPE):c.2223C>T (p.Tyr741=)
|
rs141921519
|
0.00402
|
|
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)
|
rs75817442
|
0.00402
|
|
NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His)
|
rs35909061
|
0.00402
|
|
NM_021120.4(DLG3):c.304G>A (p.Gly102Ser)
|
rs11797456
|
0.00401
|
|
NM_000162.5(GCK):c.618G>A (p.Thr206=)
|
rs142817246
|
0.00400
|
|
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)
|
rs56169243
|
0.00400
|
|
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly)
|
rs113301033
|
0.00400
|
|
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=)
|
rs142420160
|
0.00400
|
|
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val)
|
rs113208290
|
0.00400
|
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
|
NM_004595.5(SMS):c.1026A>C (p.Ser342=)
|
rs61732077
|
0.00399
|
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
|
NM_007118.4(TRIO):c.1179C>T (p.Asn393=)
|
rs56035446
|
0.00399
|
|
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu)
|
rs201051863
|
0.00399
|
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
|
NM_001040616.3(LINS1):c.718C>T (p.Arg240Trp)
|
rs145145735
|
0.00398
|
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
|
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met)
|
rs66839174
|
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_020937.4(FANCM):c.3040G>T (p.Gly1014Cys)
|
rs77532752
|
0.00398
|
|
NM_001127208.3(TET2):c.5103G>A (p.Met1701Ile)
|
rs62623390
|
0.00397
|
|
NM_001330260.2(SCN8A):c.928+9C>T
|
rs148027656
|
0.00397
|
|
NM_001378183.1(PIEZO2):c.5819C>A (p.Ala1940Asp)
|
rs116667912
|
0.00397
|
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
|
NM_001069.3(TUBB2A):c.780C>T (p.Phe260=)
|
rs145184832
|
0.00396
|
|
NM_001271938.2(MEGF8):c.352-4G>A
|
rs143955737
|
0.00396
|
|
NM_001843.4(CNTN1):c.2493T>C (p.His831=)
|
rs61754102
|
0.00396
|
|
NM_005523.6(HOXA11):c.840C>T (p.Leu280=)
|
rs115808703
|
0.00396
|
|
NM_005546.4(ITK):c.578G>A (p.Arg193Gln)
|
rs17054374
|
0.00396
|
|
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr)
|
rs55814513
|
0.00396
|
|
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)
|
rs139367209
|
0.00396
|
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
|
NM_000275.3(OCA2):c.1679G>A (p.Arg560His)
|
rs35110389
|
0.00395
|
|
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=)
|
rs145677050
|
0.00395
|
|
NM_002024.6(FMR1):c.105-8A>C
|
rs183745963
|
0.00395
|
|
NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=)
|
rs116550473
|
0.00395
|
|
NM_016343.4(CENPF):c.562T>C (p.Leu188=)
|
rs61732049
|
0.00395
|
|
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=)
|
rs35746964
|
0.00395
|
|
NM_003482.4(KMT2D):c.8064G>A (p.Glu2688=)
|
rs148457961
|
0.00394
|
|
NM_032322.4(RNF135):c.299A>G (p.His100Arg)
|
rs368080023
|
0.00394
|
|
NM_001382347.1(MYO5A):c.2814G>A (p.Glu938=)
|
rs190656197
|
0.00393
|
|
NM_014927.5(CNKSR2):c.1497G>A (p.Lys499=)
|
rs144866575
|
0.00393
|
|
NM_015175.3(NBEAL2):c.2196G>A (p.Thr732=)
|
rs201880318
|
0.00393
|
|
NM_015175.3(NBEAL2):c.4306-4A>G
|
rs201229761
|
0.00393
|
|
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=)
|
rs140248383
|
0.00393
|
|
NM_020987.5(ANK3):c.3984G>A (p.Leu1328=)
|
rs149052618
|
0.00393
|
|
NM_032444.4(SLX4):c.336G>A (p.Pro112=)
|
rs79126454
|
0.00393
|
|
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp)
|
rs76537761
|
0.00392
|
|
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
|
rs2066733
|
0.00392
|
|
NM_001102401.4(TTI2):c.1063C>T (p.Arg355Cys)
|
rs138108276
|
0.00392
|
|
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val)
|
rs143520192
|
0.00392
|
|
NM_014264.5(PLK4):c.1428A>T (p.Val476=)
|
rs112831813
|
0.00392
|
|
NM_015665.6(AAAS):c.679T>C (p.Leu227=)
|
rs80027466
|
0.00392
|
|
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His)
|
rs114057640
|
0.00392
|
|
NM_020549.5(CHAT):c.745C>G (p.Leu249Val)
|
rs115510708
|
0.00392
|
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
|
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=)
|
rs147336902
|
0.00391
|
|
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)
|
rs45608240
|
0.00391
|
|
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=)
|
rs142049079
|
0.00390
|
|
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=)
|
rs4135386
|
0.00390
|
|
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr)
|
rs35348691
|
0.00390
|
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
|
NM_012414.4(RAB3GAP2):c.1779+7G>A
|
rs111345353
|
0.00390
|
|
NM_014444.5(TUBGCP4):c.1254C>T (p.Ile418=)
|
rs186788196
|
0.00390
|
|
NM_002335.4(LRP5):c.4000+9C>T
|
rs148685646
|
0.00389
|
|
NM_014994.3(MAPKBP1):c.2859G>A (p.Pro953=)
|
rs141865866
|
0.00389
|
|
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)
|
rs148990271
|
0.00389
|
|
NM_032322.4(RNF135):c.292C>G (p.Pro98Ala)
|
rs376823094
|
0.00389
|
|
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr)
|
rs182595458
|
0.00389
|
|
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_006031.6(PCNT):c.9623+8C>T
|
rs75758339
|
0.00388
|
|
NM_203290.4(POLR1C):c.-4G>A
|
rs2231756
|
0.00388
|
|
NM_001042492.3(NF1):c.3198-4T>C
|
rs587782218
|
0.00387
|
|
NM_203447.4(DOCK8):c.3022C>T (p.Arg1008Trp)
|
rs16937932
|
0.00387
|
|
NM_001291867.2(NHS):c.2831A>T (p.His944Leu)
|
rs149244552
|
0.00386
|
|
NM_007250.5(KLF8):c.322A>G (p.Ile108Val)
|
rs146429909
|
0.00386
|
|
NM_014444.5(TUBGCP4):c.1065+7G>A
|
rs117773969
|
0.00386
|
|
NM_020831.6(MRTFA):c.2691C>T (p.Leu897=)
|
rs41276311
|
0.00386
|
|
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=)
|
rs35307405
|
0.00385
|
|
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=)
|
rs61746928
|
0.00385
|
|
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)
|
rs36095561
|
0.00385
|
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
|
NM_001374828.1(ARID1B):c.3235+6C>T
|
rs148976215
|
0.00384
|
|
NM_003072.5(SMARCA4):c.2001+8T>G
|
rs112549813
|
0.00384
|
|
NM_024824.5(ZC3H14):c.1304C>T (p.Ser435Phe)
|
rs45518831
|
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_001379110.1(SLC9A6):c.-57+50G>T
|
rs201523857
|
0.00383
|
|
NM_133473.4(ZNF431):c.641G>T (p.Cys214Phe)
|
rs139391034
|
0.00383
|
|
NM_175914.4(HNF4A):c.-276G>T
|
rs148318607
|
0.00383
|
|
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp)
|
rs114426997
|
0.00382
|
|
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp)
|
rs113986680
|
0.00382
|
|
NM_022437.3(ABCG8):c.1716C>T (p.Leu572=)
|
rs116046586
|
0.00382
|
|
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=)
|
rs139835626
|
0.00382
|
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258
|
0.00381
|
|
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)
|
rs149647255
|
0.00381
|
|
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln)
|
rs73181648
|
0.00381
|
|
NM_001194998.2(CEP152):c.4094-9A>T
|
rs80090788
|
0.00380
|
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
|
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=)
|
rs111446700
|
0.00379
|
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
|
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)
|
rs139432601
|
0.00379
|
|
NM_022762.5(RMND5B):c.*1670A>T
|
rs200781371
|
0.00379
|
|
NM_025074.7(FRAS1):c.10149C>T (p.Thr3383=)
|
rs35321934
|
0.00379
|
|
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350
|
0.00379
|
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
|
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val)
|
rs138171526
|
0.00378
|
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
|
NM_006059.4(LAMC3):c.517C>T (p.Arg173Trp)
|
rs145775274
|
0.00378
|
|
NM_030787.4(CFHR5):c.254-5C>T
|
rs185709089
|
0.00378
|
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892
|
0.00378
|
|
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=)
|
rs45517354
|
0.00377
|
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
|
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met)
|
rs35448940
|
0.00377
|
|
NM_004656.4(BAP1):c.783G>A (p.Gln261=)
|
rs35003777
|
0.00377
|
|
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser)
|
rs145906515
|
0.00377
|
|
NM_017654.4(SAMD9):c.1920C>T (p.Val640=)
|
rs115425131
|
0.00377
|
|
NM_024809.5(TCTN2):c.1505+3G>C
|
rs111574617
|
0.00377
|
|
NM_000381.4(MID1):c.498G>A (p.Pro166=)
|
rs7391874
|
0.00376
|
|
NM_000548.5(TSC2):c.848+7G>A
|
rs45442896
|
0.00376
|
|
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)
|
rs182004761
|
0.00376
|
|
NM_001195553.2(DCX):c.588T>C (p.Arg196=)
|
rs138706968
|
0.00376
|
|
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=)
|
rs139428189
|
0.00376
|
|
NM_020066.5(FMN2):c.696T>C (p.Pro232=)
|
rs11583501
|
0.00376
|
|
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)
|
rs144567556
|
0.00376
|
|
NM_030928.4(CDT1):c.1221G>A (p.Pro407=)
|
rs74035838
|
0.00376
|
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
|
NM_001291303.3(FAT4):c.9891G>A (p.Val3297=)
|
rs139704889
|
0.00375
|
|
NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys)
|
rs35996030
|
0.00375
|
|
NM_005357.4(LIPE):c.1210C>T (p.Arg404Cys)
|
rs138983180
|
0.00375
|
|
NM_001128164.2(ATXN1):c.624G>T (p.Gln208His)
|
rs28555263
|
0.00374
|
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
|
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=)
|
rs5405
|
0.00373
|
|
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_001318510.2(ACSL4):c.1391-7T>C
|
rs192665139
|
0.00373
|
|
NM_002633.3(PGM1):c.573G>A (p.Ser191=)
|
rs112502842
|
0.00373
|
|
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val)
|
rs113301547
|
0.00373
|
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00372
|
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
|
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met)
|
rs118053940
|
0.00372
|
|
NM_003072.5(SMARCA4):c.1140C>T (p.His380=)
|
rs114594206
|
0.00372
|
|
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=)
|
rs150190277
|
0.00372
|
|
NM_004972.4(JAK2):c.3288T>A (p.Asp1096Glu)
|
rs62637626
|
0.00372
|
|
NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr)
|
rs150857128
|
0.00372
|
|
NM_002291.3(LAMB1):c.2542G>C (p.Ala848Pro)
|
rs145746791
|
0.00371
|
|
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln)
|
rs140673211
|
0.00371
|
|
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)
|
rs77374493
|
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_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val)
|
rs11543347
|
0.00370
|
|
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)
|
rs201593811
|
0.00370
|
|
NM_174916.3(UBR1):c.2736A>G (p.Gln912=)
|
rs145463591
|
0.00370
|
|
NM_198428.3(BBS9):c.390T>C (p.Asn130=)
|
rs78283245
|
0.00370
|
|
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu)
|
rs61733901
|
0.00369
|
|
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr)
|
rs34731820
|
0.00369
|
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
|
NM_002465.4(MYBPC1):c.129C>T (p.Ser43=)
|
rs138170393
|
0.00369
|
|
NM_004525.3(LRP2):c.6194T>C (p.Ile2065Thr)
|
rs2228168
|
0.00369
|
|
NM_025265.4(TSEN2):c.272-4C>G
|
rs41293385
|
0.00369
|
|
NM_172351.3(CD46):c.796G>A (p.Asp266Asn)
|
rs17006830
|
0.00369
|
|
NM_000039.3(APOA1):c.732C>G (p.Pro244=)
|
rs5080
|
0.00368
|
|
NM_017838.4(NHP2):c.352G>A (p.Ala118Thr)
|
rs139588879
|
0.00368
|
|
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=)
|
rs112133852
|
0.00368
|
|
NM_172351.3(CD46):c.861G>A (p.Ser287=)
|
rs17006843
|
0.00368
|
|
NM_001291303.3(FAT4):c.2811G>T (p.Lys937Asn)
|
rs112454576
|
0.00367
|
|
NM_001378418.1(TCF20):c.4241C>T (p.Ser1414Leu)
|
rs145553394
|
0.00367
|
|
NM_138413.4(HOGA1):c.700+7C>T
|
rs57616820
|
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_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00365
|
|
NM_001291303.3(FAT4):c.12855T>C (p.Asp4285=)
|
rs78040862
|
0.00365
|
|
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)
|
rs142881106
|
0.00365
|
|
NM_004260.4(RECQL4):c.1704+9C>T
|
rs35876881
|
0.00365
|
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
|
NM_175914.5(HNF4A):c.696C>T (p.His232=)
|
rs150078978
|
0.00365
|
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
|
NM_002470.4(MYH3):c.4172+9C>T
|
rs116028239
|
0.00364
|
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
|
NM_016343.4(CENPF):c.2271T>C (p.His757=)
|
rs111676558
|
0.00364
|
|
NM_016343.4(CENPF):c.4470G>A (p.Leu1490=)
|
rs112985127
|
0.00364
|
|
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln)
|
rs3918020
|
0.00363
|
|
NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=)
|
rs116540923
|
0.00363
|
|
NM_006492.3(ALX3):c.748C>G (p.Pro250Ala)
|
rs145995775
|
0.00363
|
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
|
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser)
|
rs7196345
|
0.00363
|
|
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=)
|
rs150055592
|
0.00362
|
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
|
NM_001206744.2(TPO):c.30G>A (p.Thr10=)
|
rs28909989
|
0.00362
|
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
|
NM_000550.3(TYRP1):c.1117G>A (p.Val373Ile)
|
rs146467307
|
0.00361
|
|
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)
|
rs76675748
|
0.00361
|
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
|
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)
|
rs73810366
|
0.00361
|
|
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)
|
rs2229860
|
0.00361
|
|
NM_001015877.2(PHF6):c.374+8T>C
|
rs142596708
|
0.00360
|
|
NM_001813.3(CENPE):c.4791A>C (p.Arg1597Ser)
|
rs61751594
|
0.00360
|
|
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=)
|
rs141724499
|
0.00360
|
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
|
NM_005445.4(SMC3):c.2644+6T>A
|
rs201281088
|
0.00359
|
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
|
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala)
|
rs141464488
|
0.00359
|
|
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00358
|
|
NM_001190417.2(ZNF674):c.1110T>G (p.His370Gln)
|
rs142411452
|
0.00358
|
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
|
NM_017934.7(PHIP):c.723A>G (p.Ala241=)
|
rs77379998
|
0.00358
|
|
NM_020921.4(NIN):c.2676G>A (p.Gln892=)
|
rs78234652
|
0.00358
|
|
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=)
|
rs150494562
|
0.00357
|
|
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)
|
rs34491822
|
0.00357
|
|
NM_020461.4(TUBGCP6):c.2021C>T (p.Ala674Val)
|
rs35446002
|
0.00357
|
|
NM_030665.4(RAI1):c.837G>A (p.Gln279=)
|
rs11078398
|
0.00357
|
|
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys)
|
rs116185403
|
0.00357
|
|
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=)
|
rs140584437
|
0.00356
|
|
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn)
|
rs147222955
|
0.00356
|
|
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)
|
rs74447004
|
0.00356
|
|
NM_030773.4(TUBB1):c.84C>T (p.His28=)
|
rs35505670
|
0.00356
|
|
NM_194292.3(SASS6):c.1835G>A (p.Arg612His)
|
rs143522528
|
0.00356
|
|
NM_002472.3(MYH8):c.540C>T (p.Thr180=)
|
rs34613390
|
0.00355
|
|
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala)
|
rs149731356
|
0.00355
|
|
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)
|
rs113861754
|
0.00355
|
|
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=)
|
rs5913
|
0.00354
|
|
NM_001004320.2(AGMO):c.1011A>G (p.Ile337Met)
|
rs139340804
|
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_003647.3(DGKE):c.1440T>C (p.Val480=)
|
rs2230873
|
0.00354
|
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
|
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys)
|
rs114647348
|
0.00354
|
|
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)
|
rs56002719
|
0.00354
|
|
NM_015192.4(PLCB1):c.582T>C (p.Leu194=)
|
rs150770296
|
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_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
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_007254.4(PNKP):c.783G>A (p.Pro261=)
|
rs145307985
|
0.00353
|
|
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu)
|
rs2233061
|
0.00353
|
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
|
NM_000525.4(KCNJ11):c.-498T>C
|
rs529946415
|
0.00352
|
|
NM_001042492.3(NF1):c.4577+12C>T
|
rs17878332
|
0.00352
|
|
NM_001143992.2(WRAP53):c.823-10C>T
|
rs117192546
|
0.00352
|
|
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)
|
rs16903514
|
0.00352
|
|
NM_005633.4(SOS1):c.2997T>C (p.Asn999=)
|
rs145364368
|
0.00352
|
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
|
NM_002472.3(MYH8):c.2432+6A>C
|
rs111692916
|
0.00351
|
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
|
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)
|
rs148975763
|
0.00350
|
|
NM_000751.3(CHRND):c.1371+7G>T
|
rs188395796
|
0.00350
|
|
NM_005026.5(PIK3CD):c.2820T>C (p.His940=)
|
rs28730679
|
0.00350
|
|
NM_015175.3(NBEAL2):c.4485-8C>T
|
rs145760682
|
0.00350
|
|
NM_138982.4(MAPK10):c.960G>A (p.Ala320=)
|
rs55663953
|
0.00350
|
|
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp)
|
rs61731155
|
0.00349
|
|
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)
|
rs115784602
|
0.00349
|
|
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp)
|
rs28910273
|
0.00349
|
|
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)
|
rs17027133
|
0.00349
|
|
NM_018249.6(CDK5RAP2):c.1000-32A>G
|
rs71509524
|
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_144508.5(KNL1):c.1299T>C (p.Cys433=)
|
rs35235972
|
0.00349
|
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00348
|
|
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala)
|
rs117271684
|
0.00348
|
|
NM_020461.4(TUBGCP6):c.1118C>T (p.Pro373Leu)
|
rs34273213
|
0.00348
|
|
NM_173598.6(KSR2):c.1218T>C (p.Asp406=)
|
rs143431986
|
0.00348
|
|
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=)
|
rs1803915
|
0.00347
|
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
|
NM_002472.3(MYH8):c.1650C>T (p.Ser550=)
|
rs61730801
|
0.00347
|
|
NM_002472.3(MYH8):c.4740A>C (p.Ala1580=)
|
rs61730806
|
0.00347
|
|
NM_002509.4(NKX2-2):c.95C>T (p.Pro32Leu)
|
rs115780948
|
0.00347
|
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
|
NM_000939.4(POMC):c.261C>A (p.Phe87Leu)
|
rs199636726
|
0.00346
|
|
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=)
|
rs34772799
|
0.00346
|
|
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp)
|
rs117048449
|
0.00346
|
|
NM_005263.5(GFI1):c.168C>T (p.Ser56=)
|
rs143913803
|
0.00346
|
|
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)
|
rs5744950
|
0.00346
|
|
NM_000099.4(CST3):c.88G>A (p.Gly30Ser)
|
rs200245337
|
0.00345
|
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
|
NM_003235.5(TG):c.144C>T (p.Tyr48=)
|
rs114436500
|
0.00345
|
|
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu)
|
rs146076380
|
0.00345
|
|
NM_001465.6(FYB1):c.1135+8C>A
|
rs75715521
|
0.00344
|
|
NM_001754.5(RUNX1):c.144C>T (p.Ser48=)
|
rs147889692
|
0.00344
|
|
NM_005921.2(MAP3K1):c.834+9A>G
|
rs73135067
|
0.00344
|
|
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)
|
rs146172074
|
0.00344
|
|
NM_020987.5(ANK3):c.2322G>C (p.Gly774=)
|
rs138823660
|
0.00344
|
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
|
NM_015330.6(SPECC1L):c.1359C>T (p.Ser453=)
|
rs143055101
|
0.00343
|
|
NM_152383.5(DIS3L2):c.702+10T>G
|
rs184764939
|
0.00343
|
|
NM_006231.4(POLE):c.2468+10C>T
|
rs5744823
|
0.00342
|
|
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met)
|
rs35859404
|
0.00342
|
|
NM_206937.2(LIG4):c.180C>T (p.Val60=)
|
rs2232637
|
0.00342
|
|
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)
|
rs45441106
|
0.00341
|
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
|
NM_006031.6(PCNT):c.7040T>C (p.Phe2347Ser)
|
rs150704986
|
0.00341
|
|
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)
|
rs79724242
|
0.00341
|
|
NM_000252.3(MTM1):c.64-14T>C
|
rs184956219
|
0.00340
|
|
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu)
|
rs77208665
|
0.00340
|
|
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=)
|
rs144180074
|
0.00340
|
|
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)
|
rs56356283
|
0.00340
|
|
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=)
|
rs113389928
|
0.00340
|
|
NM_006059.4(LAMC3):c.2891-8C>T
|
rs199535979
|
0.00339
|
|
NM_014236.4(GNPAT):c.555A>T (p.Ile185=)
|
rs34613633
|
0.00339
|
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
|
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=)
|
rs73098539
|
0.00338
|
|
NM_014264.5(PLK4):c.2895G>A (p.Pro965=)
|
rs6820138
|
0.00338
|
|
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr)
|
rs116104760
|
0.00338
|
|
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=)
|
rs34451610
|
0.00337
|
|
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)
|
rs116413446
|
0.00337
|
|
NM_005026.5(PIK3CD):c.1366A>G (p.Thr456Ala)
|
rs28730674
|
0.00337
|
|
NM_005055.5(RAPSN):c.162G>A (p.Ser54=)
|
rs72905825
|
0.00337
|
|
NM_005546.4(ITK):c.1759G>A (p.Val587Ile)
|
rs56005928
|
0.00337
|
|
NM_014444.5(TUBGCP4):c.731T>C (p.Ile244Thr)
|
rs139658236
|
0.00337
|
|
NM_139058.3(ARX):c.1074-3T>C
|
rs200700643
|
0.00337
|
|
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=)
|
rs56338023
|
0.00336
|
|
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr)
|
rs146681532
|
0.00336
|
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00335
|
|
NM_017757.3(ZNF407):c.6384G>A (p.Ala2128=)
|
rs138221111
|
0.00335
|
|
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)
|
rs67376798
|
0.00334
|
|
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)
|
rs75501942
|
0.00334
|
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
|
NM_001030.6(RPS27):c.228A>T (p.Gly76=)
|
rs138950537
|
0.00334
|
|
NM_001101.5(ACTB):c.-6-4G>T
|
rs13447394
|
0.00334
|
|
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu)
|
rs192402741
|
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_002732.4(PRKACG):c.723C>T (p.Ala241=)
|
rs41288749
|
0.00334
|
|
NM_003867.4(FGF17):c.597C>T (p.Gly199=)
|
rs147413881
|
0.00334
|
|
NM_005051.3(QARS1):c.1671G>T (p.Val557=)
|
rs115671018
|
0.00334
|
|
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=)
|
rs140115896
|
0.00334
|
|
NM_006947.4(SRP72):c.1640+6dup
|
rs572508224
|
0.00334
|
|
NM_014008.5(CCDC22):c.536-7C>T
|
rs191605685
|
0.00334
|
|
NM_052989.3(IFT122):c.1908T>C (p.Ile636=)
|
rs139722192
|
0.00334
|
|
NM_173630.4(RTTN):c.635A>C (p.Asp212Ala)
|
rs12956068
|
0.00334
|
|
NM_001160372.4(TRAPPC9):c.3390A>C (p.Pro1130=)
|
rs143396124
|
0.00333
|
|
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp)
|
rs138019311
|
0.00333
|
|
NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu)
|
rs149403824
|
0.00333
|
|
NM_007347.5(AP4E1):c.1177-9T>C
|
rs145851652
|
0.00333
|
|
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=)
|
rs140922974
|
0.00333
|
|
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu)
|
rs112600265
|
0.00333
|
|
NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu)
|
rs59706816
|
0.00333
|
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
|
NM_001372574.1(ATXN2):c.2526A>G (p.Val842=)
|
rs140262591
|
0.00332
|
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650
|
0.00332
|
|
NM_001561.6(TNFRSF9):c.166G>A (p.Ala56Thr)
|
rs9657963
|
0.00332
|
|
NM_003922.4(HERC1):c.6549+5T>C
|
rs191410508
|
0.00332
|
|
NM_005068.3(SIM1):c.2100C>G (p.Gly700=)
|
rs77655804
|
0.00331
|
|
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=)
|
rs141991283
|
0.00331
|
|
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu)
|
rs140848350
|
0.00331
|
|
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=)
|
rs148104020
|
0.00330
|
|
NM_014832.5(TBC1D4):c.1856C>T (p.Pro619Leu)
|
rs56223054
|
0.00330
|
|
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=)
|
rs143796494
|
0.00330
|
|
NM_020987.5(ANK3):c.6955G>A (p.Asp2319Asn)
|
rs140463162
|
0.00330
|
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
|
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=)
|
rs16017
|
0.00329
|
|
NM_001129820.2(SLFN14):c.515T>C (p.Val172Ala)
|
rs139678049
|
0.00329
|
|
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)
|
rs116900568
|
0.00329
|
|
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=)
|
rs151274586
|
0.00329
|
|
NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly)
|
rs61845768
|
0.00329
|
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
|
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=)
|
rs61737409
|
0.00329
|
|
NM_003597.5(KLF11):c.410A>G (p.Asp137Gly)
|
rs145933214
|
0.00328
|
|
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile)
|
rs117908591
|
0.00328
|
|
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn)
|
rs115910810
|
0.00328
|
|
NM_024596.5(MCPH1):c.477A>T (p.Ser159=)
|
rs41313948
|
0.00328
|
|
NM_032415.7(CARD11):c.2913C>T (p.Cys971=)
|
rs61757651
|
0.00328
|
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
|
NM_001291303.3(FAT4):c.7358G>T (p.Ser2453Ile)
|
rs72914988
|
0.00327
|
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
|
NM_005257.6(GATA6):c.222G>A (p.Pro74=)
|
rs374402554
|
0.00327
|
|
NM_006734.4(HIVEP2):c.6953C>A (p.Thr2318Lys)
|
rs144732790
|
0.00327
|
|
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp)
|
rs191501191
|
0.00327
|
|
NM_001244008.2(KIF1A):c.3202+10C>A
|
rs190997558
|
0.00326
|
|
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=)
|
rs144969662
|
0.00326
|
|
NM_006306.4(SMC1A):c.855-15C>T
|
rs147791932
|
0.00326
|
|
NM_013328.4(PYCR2):c.135C>G (p.Leu45=)
|
rs144950490
|
0.00326
|
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
|
NM_001032221.6(STXBP1):c.247-8A>G
|
rs199827018
|
0.00325
|
|
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=)
|
rs35800931
|
0.00325
|
|
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=)
|
rs151080601
|
0.00325
|
|
NM_022725.4(FANCF):c.199A>C (p.Arg67=)
|
rs146647469
|
0.00325
|
|
NM_000043.6(FAS):c.550A>G (p.Ile184Val)
|
rs28362322
|
0.00324
|
|
NM_000222.3(KIT):c.1383A>G (p.Thr461=)
|
rs151016327
|
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_001244008.2(KIF1A):c.183+7C>T
|
rs74469870
|
0.00324
|
|
NM_002025.4(AFF2):c.1353C>G (p.Leu451=)
|
rs138980868
|
0.00324
|
|
NM_024884.3(L2HGDH):c.6G>T (p.Val2=)
|
rs113626637
|
0.00324
|
|
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_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
|
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=)
|
rs147210645
|
0.00323
|
|
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg)
|
rs61731464
|
0.00322
|
|
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
|
rs114137271
|
0.00322
|
|
NM_001283009.2(RTEL1):c.396-37C>T
|
rs41297642
|
0.00322
|
|
NM_002335.4(LRP5):c.2139G>A (p.Val713=)
|
rs34369535
|
0.00322
|
|
NM_003502.4(AXIN1):c.1577C>T (p.Ala526Val)
|
rs141699962
|
0.00322
|
|
NM_004991.4(MECOM):c.614-5C>G
|
rs114414421
|
0.00322
|
|
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)
|
rs138155747
|
0.00322
|
|
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)
|
rs55849827
|
0.00322
|
|
NM_025265.4(TSEN2):c.66A>C (p.Pro22=)
|
rs62637658
|
0.00322
|
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
|
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)
|
rs144679294
|
0.00321
|
|
NM_004426.3(PHC1):c.1845T>G (p.Val615=)
|
rs141573939
|
0.00321
|
|
NM_148923.4(CYB5A):c.13T>G (p.Ser5Ala)
|
rs75160992
|
0.00321
|
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
|
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)
|
rs193257576
|
0.00321
|
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00320
|
|
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=)
|
rs113568956
|
0.00320
|
|
NM_006231.4(POLE):c.123G>A (p.Thr41=)
|
rs5744734
|
0.00320
|
|
NM_017654.4(SAMD9):c.4561G>A (p.Glu1521Lys)
|
rs115350620
|
0.00320
|
|
NM_175914.4(HNF4A):c.-401G>A
|
rs537336047
|
0.00320
|
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
|
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00319
|
|
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr)
|
rs749130556
|
0.00319
|
|
NM_004972.4(JAK2):c.*4A>C
|
rs114173032
|
0.00319
|
|
NM_005045.4(RELN):c.565C>T (p.His189Tyr)
|
rs115806540
|
0.00319
|
|
NM_006346.4(PIBF1):c.218T>C (p.Met73Thr)
|
rs113877701
|
0.00319
|
|
NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu)
|
rs7580439
|
0.00319
|
|
NM_033022.4(RPS24):c.*11G>A
|
rs139289215
|
0.00319
|
|
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)
|
rs114064158
|
0.00319
|
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
|
NM_020937.4(FANCM):c.3547T>C (p.Leu1183=)
|
rs142667852
|
0.00318
|
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
|
NM_001643.2(APOA2):c.288G>A (p.Gln96=)
|
rs6413454
|
0.00317
|
|
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg)
|
rs141381896
|
0.00317
|
|
NM_144508.5(KNL1):c.1129A>G (p.Ile377Val)
|
rs144726295
|
0.00317
|
|
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=)
|
rs34510365
|
0.00316
|
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00316
|
|
NM_001363.5(DKC1):c.776A>C (p.His259Pro)
|
rs61757608
|
0.00316
|
|
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)
|
rs114727970
|
0.00316
|
|
NM_002693.3(POLG):c.134A>G (p.Gln45Arg)
|
rs201016638
|
0.00316
|
|
NM_014264.5(PLK4):c.1020A>C (p.Gly340=)
|
rs7664937
|
0.00316
|
|
NM_020921.4(NIN):c.3197T>A (p.Val1066Asp)
|
rs78280523
|
0.00316
|
|
NM_020937.4(FANCM):c.4222+7T>G
|
rs148675704
|
0.00316
|
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918
|
0.00316
|
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
|
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr)
|
rs146091043
|
0.00315
|
|
NM_018993.4(RIN2):c.1425C>A (p.Pro475=)
|
rs188147644
|
0.00315
|
|
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)
|
rs115954396
|
0.00315
|
|
NM_032122.5(DTNBP1):c.702C>T (p.Asn234=)
|
rs78181071
|
0.00315
|
|
NM_001378778.1(MPDZ):c.2032A>T (p.Thr678Ser)
|
rs189005767
|
0.00314
|
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
|
NM_012309.5(SHANK2):c.3105C>T (p.Ile1035=)
|
rs115697891
|
0.00314
|
|
NM_017757.3(ZNF407):c.490A>G (p.Arg164Gly)
|
rs74861823
|
0.00314
|
|
NM_018943.3(TUBA8):c.748G>A (p.Val250Met)
|
rs145621219
|
0.00314
|
|
NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile)
|
rs36222894
|
0.00314
|
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
|
NM_001040616.3(LINS1):c.1887C>T (p.Tyr629=)
|
rs61999313
|
0.00313
|
|
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg)
|
rs35101495
|
0.00313
|
|
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)
|
rs76794400
|
0.00313
|
|
NM_000346.4(SOX9):c.276G>T (p.Pro92=)
|
rs139490970
|
0.00312
|
|
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val)
|
rs11552531
|
0.00312
|
|
NM_001368809.2(AMPD2):c.1407+3A>G
|
rs41280332
|
0.00312
|
|
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=)
|
rs142391292
|
0.00312
|
|
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)
|
rs34967349
|
0.00312
|
|
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser)
|
rs145727304
|
0.00312
|
|
NM_017757.3(ZNF407):c.1116T>C (p.Ala372=)
|
rs147229491
|
0.00312
|
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
|
NM_030632.3(ASXL3):c.2457T>C (p.Ala819=)
|
rs199974440
|
0.00312
|
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
|
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)
|
rs34165480
|
0.00311
|
|
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr)
|
rs34080096
|
0.00311
|
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
|
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=)
|
rs138164407
|
0.00311
|
|
NM_000553.6(WRN):c.95A>G (p.Lys32Arg)
|
rs34477820
|
0.00310
|
|
NM_001032221.6(STXBP1):c.325+8C>T
|
rs117372398
|
0.00310
|
|
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)
|
rs111294536
|
0.00310
|
|
NM_001206999.2(CIT):c.4115T>C (p.Met1372Thr)
|
rs116251862
|
0.00310
|
|
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=)
|
rs146240413
|
0.00310
|
|
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)
|
rs144486524
|
0.00310
|
|
NM_004656.4(BAP1):c.1002A>G (p.Leu334=)
|
rs28997577
|
0.00310
|
|
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser)
|
rs144455066
|
0.00310
|
|
NM_020831.6(MRTFA):c.1332G>A (p.Pro444=)
|
rs148478967
|
0.00310
|
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
|
NM_021008.4(DEAF1):c.825C>T (p.His275=)
|
rs144498322
|
0.00310
|
|
NM_001042492.3(NF1):c.340C>T (p.Leu114=)
|
rs7207410
|
0.00309
|
|
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe)
|
rs34911705
|
0.00309
|
|
NM_019066.5(MAGEL2):c.225G>A (p.Pro75=)
|
rs564216035
|
0.00309
|
|
NM_020987.5(ANK3):c.2889C>T (p.Tyr963=)
|
rs149682716
|
0.00309
|
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
|
NM_014009.3(FOXP3):c.-78C>T
|
rs141704699
|
0.00308
|
|
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)
|
rs138354681
|
0.00308
|
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
|
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile)
|
rs150114699
|
0.00307
|
|
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)
|
rs150425546
|
0.00307
|
|
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)
|
rs143522987
|
0.00307
|
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
|
NM_005120.3(MED12):c.1248+15T>C
|
rs187377817
|
0.00307
|
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
|
NM_020066.5(FMN2):c.531G>A (p.Ser177=)
|
rs148480631
|
0.00307
|
|
NM_032444.4(SLX4):c.4241C>T (p.Pro1414Leu)
|
rs140892471
|
0.00307
|
|
NM_181741.4(ORC4):c.857C>T (p.Ala286Val)
|
rs75002266
|
0.00307
|
|
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=)
|
rs35579821
|
0.00306
|
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
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_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
|
NM_012388.4(BLOC1S6):c.34G>A (p.Ala12Thr)
|
rs145762743
|
0.00306
|
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
|
NM_001127208.3(TET2):c.3251A>C (p.Gln1084Pro)
|
rs75056899
|
0.00305
|
|
NM_001283009.2(RTEL1):c.3056A>G (p.Gln1019Arg)
|
rs116053476
|
0.00305
|
|
NM_016343.4(CENPF):c.6433C>T (p.Arg2145Cys)
|
rs114218080
|
0.00305
|
|
NM_025114.4(CEP290):c.6960+10G>A
|
rs75011402
|
0.00305
|
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
|
NM_000383.4(AIRE):c.1116G>A (p.Ser372=)
|
rs61737006
|
0.00304
|
|
NM_004304.5(ALK):c.2268C>T (p.Gly756=)
|
rs149853746
|
0.00304
|
|
NM_004656.4(BAP1):c.1026C>T (p.Ser342=)
|
rs71651686
|
0.00304
|
|
NM_015450.3(POT1):c.903G>T (p.Gln301His)
|
rs116916706
|
0.00304
|
|
NM_015662.3(IFT172):c.2551G>T (p.Val851Leu)
|
rs149748534
|
0.00304
|
|
NM_018648.4(NOP10):c.55-11T>C
|
rs141981162
|
0.00304
|
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
|
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)
|
rs13336566
|
0.00303
|
|
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)
|
rs188101277
|
0.00303
|
|
NM_005475.3(SH2B3):c.540G>A (p.Lys180=)
|
rs370747546
|
0.00303
|
|
NM_006059.4(LAMC3):c.3069+22C>T
|
rs117621658
|
0.00303
|
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
|
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu)
|
rs138281308
|
0.00302
|
|
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met)
|
rs146586991
|
0.00302
|
|
NM_025074.7(FRAS1):c.6301C>T (p.His2101Tyr)
|
rs183398121
|
0.00302
|
|
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)
|
rs149011965
|
0.00302
|
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00302
|
|
NM_198252.3(GSN):c.243C>T (p.Thr81=)
|
rs116956127
|
0.00302
|
|
NM_000276.4(OCRL):c.897G>A (p.Met299Ile)
|
rs138260625
|
0.00301
|
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
|
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln)
|
rs148346044
|
0.00301
|
|
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp)
|
rs139332126
|
0.00300
|
|
NM_001111077.2(EZR):c.1419A>C (p.Pro473=)
|
rs776473073
|
0.00300
|
|
NM_001715.3(BLK):c.713G>A (p.Arg238Gln)
|
rs141865425
|
0.00300
|
|
NM_003038.5(SLC1A4):c.1380G>A (p.Thr460=)
|
rs144265531
|
0.00300
|
|
NM_004268.5(MED17):c.978G>C (p.Val326=)
|
rs2276311
|
0.00300
|
|
NM_005045.4(RELN):c.7086C>T (p.Thr2362=)
|
rs362747
|
0.00300
|
|
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)
|
rs28903085
|
0.00300
|
|
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu)
|
rs35776173
|
0.00300
|
|
NM_015214.3(DDHD2):c.1127A>G (p.Asp376Gly)
|
rs148664622
|
0.00300
|
|
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=)
|
rs113831595
|
0.00300
|
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00299
|
|
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=)
|
rs141014640
|
0.00299
|
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
|
NM_002354.3(EPCAM):c.135A>G (p.Gln45=)
|
rs72882770
|
0.00298
|
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
|
NM_014467.3(SRPX2):c.460C>G (p.His154Asp)
|
rs73636611
|
0.00298
|
|
NM_032977.4(CASP10):c.1296C>T (p.Ala432=)
|
rs41331850
|
0.00298
|
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
|
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=)
|
rs201119371
|
0.00297
|
|
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=)
|
rs3737682
|
0.00297
|
|
NM_014423.4(AFF4):c.554A>T (p.Gln185Leu)
|
rs137880283
|
0.00297
|
|
NM_020066.5(FMN2):c.1352T>A (p.Leu451Gln)
|
rs145379416
|
0.00297
|
|
NM_021922.3(FANCE):c.1510-11C>T
|
rs189384185
|
0.00297
|
|
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=)
|
rs140096524
|
0.00297
|
|
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys)
|
rs143324306
|
0.00297
|
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
|
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=)
|
rs13440710
|
0.00296
|
|
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)
|
rs139721775
|
0.00296
|
|
NM_001848.3(COL6A1):c.1612-6C>T
|
rs143812383
|
0.00296
|
|
NM_001905.4(CTPS1):c.570G>A (p.Gly190=)
|
rs116134285
|
0.00296
|
|
NM_002691.4(POLD1):c.783C>T (p.Val261=)
|
rs34269084
|
0.00296
|
|
NM_004260.4(RECQL4):c.3313G>A (p.Gly1105Ser)
|
rs34915097
|
0.00296
|
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
|
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)
|
rs34439033
|
0.00295
|
|
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)
|
rs113651939
|
0.00295
|
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
|
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr)
|
rs202076833
|
0.00295
|
|
NM_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
|
NM_004364.5(CEBPA):c.402G>A (p.Ala134=)
|
rs752254340
|
0.00295
|
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
|
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=)
|
rs202082835
|
0.00294
|
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
|
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=)
|
rs61733871
|
0.00293
|
|
NM_004933.3(CDH15):c.387A>G (p.Gly129=)
|
rs147301479
|
0.00293
|
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
|
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)
|
rs121908601
|
0.00293
|
|
NM_012156.2(EPB41L1):c.1643A>G (p.Lys548Arg)
|
rs144426436
|
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_001377304.1(GFI1B):c.239-9T>A
|
rs148081644
|
0.00292
|
|
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=)
|
rs140540789
|
0.00292
|
|
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met)
|
rs117475706
|
0.00292
|
|
NM_030928.4(CDT1):c.613G>A (p.Gly205Ser)
|
rs145552478
|
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_001371623.1(TCOF1):c.1281G>A (p.Ala427=)
|
rs113299143
|
0.00291
|
|
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
0.00291
|
|
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser)
|
rs200664441
|
0.00291
|
|
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=)
|
rs147546892
|
0.00291
|
|
NM_006231.4(POLE):c.846C>T (p.Pro282=)
|
rs5744758
|
0.00291
|
|
NM_006579.3(EBP):c.382C>T (p.Leu128=)
|
rs142881014
|
0.00291
|
|
NM_006876.3(B4GAT1):c.828G>T (p.Val276=)
|
rs142956522
|
0.00291
|
|
NM_017757.3(ZNF407):c.427G>T (p.Val143Phe)
|
rs200158544
|
0.00291
|
|
NM_173560.4(RFX6):c.985G>A (p.Val329Ile)
|
rs139343836
|
0.00291
|
|
NM_000059.4(BRCA2):c.7805+6C>G
|
rs81002819
|
0.00290
|
|
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)
|
rs142893758
|
0.00290
|
|
NM_001109809.5(ZFP57):c.732T>C (p.Ser244=)
|
rs190197921
|
0.00290
|
|
NM_001378778.1(MPDZ):c.4220A>G (p.Tyr1407Cys)
|
rs200891478
|
0.00290
|
|
NM_002691.4(POLD1):c.1977C>T (p.Ile659=)
|
rs45605236
|
0.00290
|
|
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu)
|
rs146454164
|
0.00290
|
|
NM_005236.3(ERCC4):c.2724C>T (p.Val908=)
|
rs3136225
|
0.00290
|
|
NM_007254.4(PNKP):c.939T>C (p.Phe313=)
|
rs149731642
|
0.00290
|
|
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr)
|
rs35843564
|
0.00290
|
|
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)
|
rs61995713
|
0.00290
|
|
NM_020928.2(ZSWIM6):c.1722C>T (p.Asp574=)
|
rs187525163
|
0.00290
|
|
NM_005263.5(GFI1):c.483T>C (p.Pro161=)
|
rs374062963
|
0.00289
|
|
NM_006031.6(PCNT):c.6933C>T (p.Val2311=)
|
rs148444313
|
0.00289
|
|
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln)
|
rs181413143
|
0.00289
|
|
NM_016343.4(CENPF):c.7555A>G (p.Lys2519Glu)
|
rs149416779
|
0.00289
|
|
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=)
|
rs146960060
|
0.00289
|
|
NM_182914.3(SYNE2):c.20596C>T (p.Leu6866=)
|
rs141474837
|
0.00289
|
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
|
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val)
|
rs142747281
|
0.00288
|
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
|
NM_004715.5(CTDP1):c.2274G>A (p.Pro758=)
|
rs140627086
|
0.00288
|
|
NM_022436.3(ABCG5):c.1763-7T>G
|
rs114780578
|
0.00288
|
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
|
NM_000162.5(GCK):c.954G>C (p.Gly318=)
|
rs145764627
|
0.00287
|
|
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=)
|
rs28383064
|
0.00287
|
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
|
NM_001022.4(RPS19):c.411+12G>A
|
rs61762296
|
0.00287
|
|
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)
|
rs61737660
|
0.00287
|
|
NM_001614.5(ACTG1):c.714G>A (p.Lys238=)
|
rs11549173
|
0.00287
|
|
NM_001830.4(CLCN4):c.1758G>A (p.Val586=)
|
rs143437511
|
0.00287
|
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
|
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met)
|
rs114149451
|
0.00287
|
|
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)
|
rs145733598
|
0.00287
|
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
|
NM_005045.4(RELN):c.906C>T (p.Ala302=)
|
rs114494558
|
0.00287
|
|
NM_005445.4(SMC3):c.255A>G (p.Ser85=)
|
rs146433240
|
0.00287
|
|
NM_007055.4(POLR3A):c.927C>T (p.Asp309=)
|
rs41274610
|
0.00287
|
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
|
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=)
|
rs75288720
|
0.00287
|
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
|
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)
|
rs116483694
|
0.00287
|
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00286
|
|
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)
|
rs17227361
|
0.00286
|
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
|
NM_005879.3(TRAIP):c.99-9T>G
|
rs181861135
|
0.00286
|
|
NM_017757.3(ZNF407):c.1991G>T (p.Ser664Ile)
|
rs149806516
|
0.00286
|
|
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)
|
rs587780375
|
0.00286
|
|
NM_000208.4(INSR):c.2355G>A (p.Ser785=)
|
rs148137322
|
0.00285
|
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
|
NM_001384732.1(CPLANE1):c.7234-7C>G
|
rs141575785
|
0.00285
|
|
NM_001710.6(CFB):c.858C>T (p.Phe286=)
|
rs117905900
|
0.00285
|
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
|
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys)
|
rs61757385
|
0.00285
|
|
NM_012309.5(SHANK2):c.5151G>A (p.Met1717Ile)
|
rs140134890
|
0.00285
|
|
NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=)
|
rs146025366
|
0.00285
|
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
|
NM_030962.4(SBF2):c.4693A>G (p.Ile1565Val)
|
rs115345208
|
0.00285
|
|
NM_152703.5(SAMD9L):c.3285A>G (p.Lys1095=)
|
rs79858266
|
0.00285
|
|
NM_181741.4(ORC4):c.604T>G (p.Leu202Val)
|
rs73003466
|
0.00285
|
|
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)
|
rs75376282
|
0.00284
|
|
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=)
|
rs61736350
|
0.00284
|
|
NM_001987.5(ETV6):c.1075C>A (p.Arg359=)
|
rs141938078
|
0.00284
|
|
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser)
|
rs201507971
|
0.00284
|
|
NM_005921.2(MAP3K1):c.2886C>G (p.Pro962=)
|
rs201198197
|
0.00284
|
|
NM_006059.4(LAMC3):c.368G>T (p.Arg123Leu)
|
rs140461419
|
0.00284
|
|
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val)
|
rs148788180
|
0.00284
|
|
NM_018136.5(ASPM):c.3599-4A>G
|
rs149303254
|
0.00284
|
|
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=)
|
rs189752384
|
0.00284
|
|
NM_021008.4(DEAF1):c.727A>G (p.Met243Val)
|
rs71469813
|
0.00284
|
|
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)
|
rs2799068
|
0.00284
|
|
NM_001291415.2(KDM6A):c.1683+3G>A
|
rs61751429
|
0.00283
|
|
NM_003482.4(KMT2D):c.4020+13C>G
|
rs184377216
|
0.00283
|
|
NM_005045.4(RELN):c.416C>G (p.Thr139Ser)
|
rs79471015
|
0.00283
|
|
NM_024989.4(PGAP1):c.906T>C (p.Leu302=)
|
rs138525017
|
0.00283
|
|
NM_000022.4(ADA):c.162G>A (p.Lys54=)
|
rs45557242
|
0.00282
|
|
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=)
|
rs55773634
|
0.00282
|
|
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu)
|
rs149424724
|
0.00282
|
|
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)
|
rs144908351
|
0.00282
|
|
NM_001372044.2(SHANK3):c.2324+9T>C
|
rs143935032
|
0.00282
|
|
NM_001429.4(EP300):c.2064A>G (p.Leu688=)
|
rs61756763
|
0.00282
|
|
NM_004972.4(JAK2):c.1458T>G (p.Val486=)
|
rs10119726
|
0.00282
|
|
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)
|
rs41348347
|
0.00281
|
|
NM_001458.5(FLNC):c.7780+10A>G
|
rs201149834
|
0.00281
|
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
|
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)
|
rs112581563
|
0.00281
|
|
NM_033026.6(PCLO):c.3498G>A (p.Thr1166=)
|
rs141881813
|
0.00281
|
|
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp)
|
rs150306354
|
0.00280
|
|
NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser)
|
rs62620227
|
0.00280
|
|
NM_002168.4(IDH2):c.939A>G (p.Gly313=)
|
rs16943901
|
0.00280
|
|
NM_004525.3(LRP2):c.92C>T (p.Ala31Val)
|
rs144829356
|
0.00280
|
|
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)
|
rs146478958
|
0.00280
|
|
NM_007315.4(STAT1):c.1155G>A (p.Thr385=)
|
rs41270237
|
0.00280
|
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
|
NM_018036.7(ATG2B):c.2437+6A>G
|
rs74086418
|
0.00280
|
|
NM_020987.5(ANK3):c.2103C>T (p.Leu701=)
|
rs142415903
|
0.00280
|
|
NM_020987.5(ANK3):c.756G>A (p.Thr252=)
|
rs117266082
|
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_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs)
|
rs527638422
|
0.00279
|
|
NM_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
|
NM_007118.4(TRIO):c.8831A>G (p.Asn2944Ser)
|
rs143213427
|
0.00279
|
|
NM_016222.4(DDX41):c.1299G>A (p.Pro433=)
|
rs61736556
|
0.00279
|
|
NM_017721.5(CC2D1A):c.2088A>G (p.Lys696=)
|
rs73925404
|
0.00279
|
|
NM_017951.5(SMPD4):c.1289+8T>G
|
rs200865582
|
0.00279
|
|
NM_207361.6(FREM2):c.9266A>G (p.His3089Arg)
|
rs76949956
|
0.00279
|
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
|
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)
|
rs182650126
|
0.00278
|
|
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=)
|
rs192386572
|
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_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
|
NM_000081.4(LYST):c.5223T>C (p.Leu1741=)
|
rs7530527
|
0.00277
|
|
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp)
|
rs143967758
|
0.00277
|
|
NM_001040142.2(SCN2A):c.387-10G>A
|
rs2304015
|
0.00277
|
|
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)
|
rs55791823
|
0.00277
|
|
NM_004991.4(MECOM):c.822T>C (p.Asp274=)
|
rs142578153
|
0.00277
|
|
NM_006087.4(TUBB4A):c.915G>A (p.Pro305=)
|
rs149903666
|
0.00277
|
|
NM_014795.4(ZEB2):c.489C>T (p.Ile163=)
|
rs138859323
|
0.00277
|
|
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=)
|
rs145402135
|
0.00277
|
|
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)
|
rs149884307
|
0.00277
|
|
NM_138386.3(NAF1):c.83C>T (p.Ala28Val)
|
rs182355036
|
0.00277
|
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
|
NM_001283009.2(RTEL1):c.301+7C>T
|
rs200648296
|
0.00276
|
|
NM_001377304.1(GFI1B):c.148T>C (p.Phe50Leu)
|
rs139685732
|
0.00276
|
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
|
NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=)
|
rs201384843
|
0.00276
|
|
NM_005263.5(GFI1):c.792C>T (p.Phe264=)
|
rs114487177
|
0.00276
|
|
NM_019892.6(INPP5E):c.1159+8C>T
|
rs73566945
|
0.00276
|
|
NM_032415.7(CARD11):c.1630A>C (p.Ile544Leu)
|
rs147687933
|
0.00276
|
|
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
|
rs116920018
|
0.00276
|
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
|
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)
|
rs55980825
|
0.00275
|
|
NM_006910.5(RBBP6):c.3545G>A (p.Arg1182His)
|
rs116616570
|
0.00275
|
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
|
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp)
|
rs35374168
|
0.00275
|
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
|
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)
|
rs146458902
|
0.00274
|
|
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)
|
rs121917810
|
0.00274
|
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
|
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=)
|
rs151150677
|
0.00274
|
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
|
NM_001378030.1(CCDC78):c.60T>C (p.Asn20=)
|
rs73489339
|
0.00274
|
|
NM_004473.4(FOXE1):c.285A>G (p.Lys95=)
|
rs139551528
|
0.00274
|
|
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=)
|
rs71530911
|
0.00274
|
|
NM_016373.4(WWOX):c.1134C>T (p.Asn378=)
|
rs201088847
|
0.00274
|
|
NM_018341.3(ERMARD):c.1695G>A (p.Thr565=)
|
rs144899015
|
0.00274
|
|
NM_025009.5(CEP135):c.1254A>G (p.Arg418=)
|
rs62641662
|
0.00274
|
|
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met)
|
rs149948290
|
0.00274
|
|
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=)
|
rs201208890
|
0.00273
|
|
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)
|
rs1048042
|
0.00273
|
|
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)
|
rs72648980
|
0.00273
|
|
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser)
|
rs145151396
|
0.00273
|
|
NM_020822.3(KCNT1):c.333G>A (p.Ser111=)
|
rs56008253
|
0.00273
|
|
NM_022089.4(ATP13A2):c.3236-34G>A
|
rs149826987
|
0.00273
|
|
NM_030773.4(TUBB1):c.396C>G (p.Gly132=)
|
rs61757565
|
0.00273
|
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
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_001283009.2(RTEL1):c.3693G>A (p.Thr1231=)
|
rs181080831
|
0.00272
|
|
NM_007315.4(STAT1):c.990G>A (p.Gln330=)
|
rs41509946
|
0.00272
|
|
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=)
|
rs56931633
|
0.00272
|
|
NM_020207.7(ERCC6L2):c.-8C>G
|
rs78293324
|
0.00272
|
|
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)
|
rs111866410
|
0.00271
|
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
|
NM_004153.4(ORC1):c.2226C>A (p.Ser742=)
|
rs34644009
|
0.00271
|
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
|
NM_001626.6(AKT2):c.93C>T (p.Ser31=)
|
rs35588791
|
0.00270
|
|
NM_002439.5(MSH3):c.2511G>A (p.Leu837=)
|
rs149628160
|
0.00270
|
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
|
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser)
|
rs56359259
|
0.00270
|
|
NM_018026.4(PACS1):c.2376C>T (p.Ala792=)
|
rs145601427
|
0.00270
|
|
NM_018036.7(ATG2B):c.6168C>T (p.Gly2056=)
|
rs151219519
|
0.00270
|
|
NM_018341.3(ERMARD):c.265C>A (p.Gln89Lys)
|
rs148450358
|
0.00270
|
|
NM_024426.6(WT1):c.181C>A (p.Arg61=)
|
rs2234581
|
0.00270
|
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
|
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)
|
rs113347629
|
0.00269
|
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
|
NM_000381.4(MID1):c.1242C>T (p.Tyr414=)
|
rs142718564
|
0.00269
|
|
NM_000545.8(HNF1A):c.276C>T (p.Leu92=)
|
rs34056805
|
0.00269
|
|
NM_001101.5(ACTB):c.985-6C>T
|
rs182943508
|
0.00269
|
|
NM_005263.5(GFI1):c.319C>G (p.Pro107Ala)
|
rs149914857
|
0.00269
|
|
NM_005359.6(SMAD4):c.455-6A>G
|
rs181178864
|
0.00269
|
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
|
NM_000038.6(APC):c.4893T>C (p.Ser1631=)
|
rs35634377
|
0.00268
|
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
|
NM_001082538.3(TCTN1):c.1332-35G>C
|
rs73419336
|
0.00268
|
|
NM_003619.4(PRSS12):c.309G>C (p.Thr103=)
|
rs373311928
|
0.00268
|
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
|
NM_015275.3(WASHC4):c.2162G>A (p.Arg721His)
|
rs74426960
|
0.00268
|
|
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val)
|
rs148871932
|
0.00268
|
|
NM_139027.6(ADAMTS13):c.3171G>A (p.Ala1057=)
|
rs36222580
|
0.00268
|
|
NM_000314.8(PTEN):c.-165C>G
|
rs575260016
|
0.00267
|
|
NM_000969.5(RPL5):c.325-4A>G
|
rs183825489
|
0.00267
|
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
|
NM_001626.6(AKT2):c.573+9C>T
|
rs3730258
|
0.00267
|
|
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)
|
rs75485205
|
0.00267
|
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
|
NM_033022.4(RPS24):c.168T>C (p.Phe56=)
|
rs57866839
|
0.00267
|
|
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=)
|
rs113782371
|
0.00267
|
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
|
NM_016302.4(CRBN):c.88G>A (p.Glu30Lys)
|
rs78564552
|
0.00266
|
|
NM_032237.5(POMK):c.714C>T (p.Ser238=)
|
rs148949414
|
0.00266
|
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
|
NM_001205254.2(OCLN):c.452C>T (p.Ala151Val)
|
rs28562785
|
0.00264
|
|
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)
|
rs72646823
|
0.00264
|
|
NM_001614.5(ACTG1):c.471C>T (p.Asp157=)
|
rs11549222
|
0.00264
|
|
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)
|
rs17102066
|
0.00264
|
|
NM_018100.4(EFHC1):c.25T>C (p.Leu9=)
|
rs149315015
|
0.00264
|
|
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser)
|
rs116981543
|
0.00264
|
|
NM_020461.4(TUBGCP6):c.3382A>C (p.Arg1128=)
|
rs1266725037
|
0.00264
|
|
NM_032415.7(CARD11):c.3144+9G>A
|
rs112606562
|
0.00264
|
|
NM_032638.5(GATA2):c.66C>G (p.Pro22=)
|
rs113384352
|
0.00264
|
|
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)
|
rs201342438
|
0.00263
|
|
NM_001378615.1(CC2D2A):c.3288+25T>C
|
rs73125629
|
0.00263
|
|
NM_020921.4(NIN):c.2041G>A (p.Gly681Arg)
|
rs142733791
|
0.00263
|
|
NM_000136.3(FANCC):c.-225C>T
|
rs182633348
|
0.00262
|
|
NM_000207.3(INS):c.188-10G>A
|
rs41275198
|
0.00262
|
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
|
NM_001080414.4(CCDC88C):c.5654G>A (p.Arg1885His)
|
rs61742126
|
0.00262
|
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
|
NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly)
|
rs201652303
|
0.00262
|
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
|
NM_001673.5(ASNS):c.144C>T (p.His48=)
|
rs11554431
|
0.00262
|
|
NM_019066.5(MAGEL2):c.2886C>T (p.Ser962=)
|
rs2233068
|
0.00262
|
|
NM_033026.6(PCLO):c.5632A>G (p.Ile1878Val)
|
rs150515688
|
0.00262
|
|
NM_172351.3(CD46):c.38C>T (p.Ser13Phe)
|
rs138843816
|
0.00262
|
|
NM_000064.4(C3):c.4878T>C (p.Thr1626=)
|
rs1803223
|
0.00261
|
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
|
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935
|
0.00261
|
|
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=)
|
rs61755180
|
0.00261
|
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
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_152564.5(VPS13B):c.9330+9A>G
|
rs184381851
|
0.00261
|
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
|
NM_001374828.1(ARID1B):c.6171C>T (p.Ile2057=)
|
rs142499766
|
0.00260
|
|
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu)
|
rs201190869
|
0.00260
|
|
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp)
|
rs111673705
|
0.00260
|
|
NM_014915.3(ANKRD26):c.1747C>G (p.Gln583Glu)
|
rs56151272
|
0.00260
|
|
NM_014915.3(ANKRD26):c.2584C>G (p.Gln862Glu)
|
rs74128547
|
0.00260
|
|
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=)
|
rs142813933
|
0.00260
|
|
NM_032415.7(CARD11):c.519G>A (p.Leu173=)
|
rs41473147
|
0.00260
|
|
NM_032638.5(GATA2):c.-5C>G
|
rs374415484
|
0.00260
|
|
NM_000939.4(POMC):c.346C>T (p.Leu116=)
|
rs34650613
|
0.00259
|
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
|
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
|
NM_013328.4(PYCR2):c.399A>G (p.Thr133=)
|
rs112885589
|
0.00259
|
|
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala)
|
rs111262341
|
0.00259
|
|
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)
|
rs138658585
|
0.00259
|
|
NM_138422.4(ADAT3):c.854A>C (p.Asp285Ala)
|
rs146212621
|
0.00259
|
|
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser)
|
rs143577015
|
0.00258
|
|
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)
|
rs149185431
|
0.00258
|
|
NM_001113378.2(FANCI):c.3255+6dup
|
rs878854178
|
0.00258
|
|
NM_001123385.2(BCOR):c.408C>T (p.Ala136=)
|
rs139802143
|
0.00258
|
|
NM_001429.4(EP300):c.5814G>A (p.Thr1938=)
|
rs112948044
|
0.00258
|
|
NM_001429.4(EP300):c.865A>G (p.Met289Val)
|
rs2230111
|
0.00258
|
|
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=)
|
rs61735830
|
0.00258
|
|
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val)
|
rs141497885
|
0.00258
|
|
NM_006306.4(SMC1A):c.1254+11G>C
|
rs144354524
|
0.00258
|
|
NM_013382.7(POMT2):c.924-10C>T
|
rs142122657
|
0.00258
|
|
NM_152618.3(BBS12):c.1287T>C (p.Ser429=)
|
rs17006094
|
0.00258
|
|
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)
|
rs17232973
|
0.00257
|
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
|
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val)
|
rs139814895
|
0.00257
|
|
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile)
|
rs139798654
|
0.00257
|
|
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=)
|
rs533182720
|
0.00257
|
|
NM_002168.4(IDH2):c.327G>A (p.Val109=)
|
rs150943639
|
0.00257
|
|
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)
|
rs61781316
|
0.00257
|
|
NM_003309.4(TSPYL1):c.1098C>A (p.Phe366Leu)
|
rs140756663
|
0.00257
|
|
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)
|
rs55992440
|
0.00257
|
|
NM_005739.4(RASGRP1):c.1548C>T (p.Leu516=)
|
rs61759869
|
0.00257
|
|
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp)
|
rs117987006
|
0.00257
|
|
NM_014915.3(ANKRD26):c.2559+3A>G
|
rs192827581
|
0.00257
|
|
NM_022081.6(HPS4):c.1883G>A (p.Arg628His)
|
rs78892693
|
0.00257
|
|
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser)
|
rs138332224
|
0.00257
|
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
|
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)
|
rs3027927
|
0.00256
|
|
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)
|
rs117844037
|
0.00256
|
|
NM_001379291.1(BRD4):c.801C>T (p.Pro267=)
|
rs148130736
|
0.00256
|
|
NM_002049.4(GATA1):c.1173G>A (p.Thr391=)
|
rs61735969
|
0.00256
|
|
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
|
rs191830054
|
0.00256
|
|
NM_025103.4(IFT74):c.360A>G (p.Glu120=)
|
rs185119188
|
0.00256
|
|
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)
|
rs1800576
|
0.00255
|
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
|
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)
|
rs41279055
|
0.00255
|
|
NM_021922.3(FANCE):c.248+7C>A
|
rs186563531
|
0.00255
|
|
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile)
|
rs139521179
|
0.00255
|
|
NM_173630.4(RTTN):c.2990C>T (p.Ala997Val)
|
rs143471549
|
0.00255
|
|
NM_198253.3(TERT):c.1812A>G (p.Ala604=)
|
rs33959226
|
0.00255
|
|
NM_015559.3(SETBP1):c.1248T>C (p.His416=)
|
rs144249054
|
0.00254
|
|
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=)
|
rs113819179
|
0.00254
|
|
NM_032110.3(DMRTA2):c.1217T>A (p.Leu406Gln)
|
rs184374125
|
0.00254
|
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
|
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)
|
rs4986933
|
0.00253
|
|
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser)
|
rs143877693
|
0.00253
|
|
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=)
|
rs139927527
|
0.00253
|
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
|
NM_000081.4(LYST):c.2363+4T>C
|
rs201398337
|
0.00252
|
|
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=)
|
rs149859004
|
0.00252
|
|
NM_001283009.2(RTEL1):c.3823-5C>G
|
rs141522376
|
0.00252
|
|
NM_003355.3(UCP2):c.227G>A (p.Arg76Gln)
|
rs45541732
|
0.00252
|
|
NM_017757.3(ZNF407):c.4106G>A (p.Gly1369Asp)
|
rs34141917
|
0.00252
|
|
NM_017757.3(ZNF407):c.6069G>T (p.Leu2023=)
|
rs189911859
|
0.00252
|
|
NM_025009.5(CEP135):c.2065A>G (p.Ile689Val)
|
rs139407231
|
0.00252
|
|
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met)
|
rs17003166
|
0.00252
|
|
NM_001082486.2(ACD):c.819C>T (p.Pro273=)
|
rs138740815
|
0.00251
|
|
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp)
|
rs118031800
|
0.00251
|
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
|
NM_014915.3(ANKRD26):c.2332G>C (p.Glu778Gln)
|
rs139949439
|
0.00251
|
|
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=)
|
rs200489667
|
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_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)
|
rs2306618
|
0.00250
|
|
NM_002519.3(NPAT):c.388A>G (p.Thr130Ala)
|
rs187990506
|
0.00250
|
|
NM_003355.3(UCP2):c.803C>G (p.Ala268Gly)
|
rs45490393
|
0.00250
|
|
NM_003619.4(PRSS12):c.1490-7G>A
|
rs183541303
|
0.00250
|
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
|
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu)
|
rs146529868
|
0.00250
|
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
|
NM_138711.6(PPARG):c.1362C>T (p.Ile454=)
|
rs149367249
|
0.00250
|
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00249
|
|
NM_001040616.3(LINS1):c.1813A>G (p.Met605Val)
|
rs141855950
|
0.00249
|
|
NM_001244710.2(GFPT1):c.549T>C (p.Gly183=)
|
rs144566433
|
0.00249
|
|
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=)
|
rs147755372
|
0.00249
|
|
NM_004393.6(DAG1):c.1233G>A (p.Val411=)
|
rs145765079
|
0.00249
|
|
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)
|
rs143916832
|
0.00249
|
|
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)
|
rs41264699
|
0.00249
|
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
|
NM_014875.3(KIF14):c.1087G>A (p.Val363Ile)
|
rs77828651
|
0.00249
|
|
NM_018993.4(RIN2):c.1141C>T (p.Arg381Trp)
|
rs199954296
|
0.00249
|
|
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg)
|
rs78110192
|
0.00249
|
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
|
NM_005629.4(SLC6A8):c.813C>T (p.Val271=)
|
rs138064933
|
0.00248
|
|
NM_006009.4(TUBA1A):c.966C>T (p.Asp322=)
|
rs142641191
|
0.00248
|
|
NM_014832.5(TBC1D4):c.812C>G (p.Ala271Gly)
|
rs199722075
|
0.00248
|
|
NM_017757.3(ZNF407):c.1908C>T (p.Thr636=)
|
rs187139901
|
0.00248
|
|
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile)
|
rs76659072
|
0.00248
|
|
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=)
|
rs142190930
|
0.00248
|
|
NM_000939.4(POMC):c.583G>A (p.Ala195Thr)
|
rs141309351
|
0.00247
|
|
NM_001080517.3(SETD5):c.4115C>T (p.Thr1372Ile)
|
rs62246321
|
0.00247
|
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
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_000099.4(CST3):c.417G>A (p.Ser139=)
|
rs77000936
|
0.00246
|
|
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=)
|
rs368781046
|
0.00246
|
|
NM_003467.3(CXCR4):c.783C>T (p.Ile261=)
|
rs148279552
|
0.00246
|
|
NM_004260.4(RECQL4):c.1390+3G>A
|
rs148912524
|
0.00246
|
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
|
NM_000553.6(WRN):c.970A>G (p.Thr324Ala)
|
rs1800390
|
0.00245
|
|
NM_001378454.1(ALMS1):c.2730C>T (p.His910=)
|
rs189923349
|
0.00245
|
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
|
NM_004752.4(GCM2):c.157G>A (p.Asp53Asn)
|
rs11963186
|
0.00245
|
|
NM_005357.4(LIPE):c.117G>A (p.Ser39=)
|
rs41275756
|
0.00245
|
|
NM_014009.4(FOXP3):c.324G>A (p.Thr108=)
|
rs111856931
|
0.00245
|
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
|
NM_020320.5(RARS2):c.-8A>C
|
rs28381459
|
0.00245
|
|
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile)
|
rs116093409
|
0.00245
|
|
NM_001040616.3(LINS1):c.1194A>G (p.Gln398=)
|
rs138347314
|
0.00244
|
|
NM_001291303.3(FAT4):c.7935C>T (p.Asp2645=)
|
rs146157250
|
0.00244
|
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
|
NM_000245.4(MET):c.3522T>C (p.His1174=)
|
rs146651797
|
0.00243
|
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
|
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro)
|
rs77745570
|
0.00243
|
|
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met)
|
rs74407840
|
0.00243
|
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
|
NM_006947.4(SRP72):c.1425-4T>C
|
rs57723738
|
0.00243
|
|
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=)
|
rs77100552
|
0.00243
|
|
NM_018993.4(RIN2):c.1338G>C (p.Arg446=)
|
rs367993633
|
0.00243
|
|
NM_019892.6(INPP5E):c.572C>G (p.Pro191Arg)
|
rs61734181
|
0.00243
|
|
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)
|
rs151071546
|
0.00243
|
|
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
|
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)
|
rs35331711
|
0.00242
|
|
NM_001291303.3(FAT4):c.5987A>G (p.Lys1996Arg)
|
rs140055438
|
0.00242
|
|
NM_002291.3(LAMB1):c.2113G>C (p.Val705Leu)
|
rs34150332
|
0.00242
|
|
NM_006031.6(PCNT):c.9274-3C>T
|
rs200348425
|
0.00242
|
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
|
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met)
|
rs3803311
|
0.00242
|
|
NM_152383.5(DIS3L2):c.2370C>T (p.Gly790=)
|
rs199541622
|
0.00242
|
|
NM_198428.3(BBS9):c.2632+9C>A
|
rs148654647
|
0.00242
|
|
NM_000552.5(VWF):c.114C>T (p.Phe38=)
|
rs2229443
|
0.00241
|
|
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=)
|
rs113955216
|
0.00241
|
|
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg)
|
rs113289249
|
0.00241
|
|
NM_014444.5(TUBGCP4):c.831A>G (p.Leu277=)
|
rs149743986
|
0.00241
|
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
|
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)
|
rs147106995
|
0.00240
|
|
NM_001012339.3(DNAJC21):c.334C>T (p.Arg112Cys)
|
rs187780009
|
0.00240
|
|
NM_001126128.2(PROK2):c.*2C>T
|
rs115261059
|
0.00240
|
|
NM_001356.5(DDX3X):c.234A>T (p.Ser78=)
|
rs143627607
|
0.00240
|
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
|
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=)
|
rs140707871
|
0.00240
|
|
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)
|
rs531879999
|
0.00240
|
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
|
NM_020987.5(ANK3):c.2316G>A (p.Gln772=)
|
rs143430852
|
0.00240
|
|
NM_024782.3(NHEJ1):c.258C>T (p.Asp86=)
|
rs113689741
|
0.00240
|
|
NM_177438.3(DICER1):c.1377-4T>G
|
rs192490028
|
0.00240
|
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
|
NM_001273.5(CHD4):c.420T>G (p.Asp140Glu)
|
rs74790047
|
0.00239
|
|
NM_001379110.1(SLC9A6):c.1460+4A>G
|
rs180727016
|
0.00239
|
|
NM_002578.5(PAK3):c.531G>A (p.Glu177=)
|
rs56270341
|
0.00239
|
|
NM_003235.5(TG):c.7083G>T (p.Ala2361=)
|
rs116723711
|
0.00239
|
|
NM_016648.4(LARP7):c.734A>G (p.Asn245Ser)
|
rs61602805
|
0.00239
|
|
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)
|
rs190548814
|
0.00239
|
|
NM_018993.4(RIN2):c.1917G>A (p.Leu639=)
|
rs368610064
|
0.00239
|
|
NM_000081.4(LYST):c.597C>G (p.Asp199Glu)
|
rs112127610
|
0.00238
|
|
NM_000240.4(MAOA):c.825G>A (p.Pro275=)
|
rs138703731
|
0.00238
|
|
NM_000426.4(LAMA2):c.6429+8C>A
|
rs199773264
|
0.00238
|
|
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)
|
rs17886566
|
0.00238
|
|
NM_002335.4(LRP5):c.4431C>T (p.His1477=)
|
rs11574426
|
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_006031.6(PCNT):c.8224G>C (p.Glu2742Gln)
|
rs35557109
|
0.00238
|
|
NM_015662.3(IFT172):c.3357C>T (p.His1119=)
|
rs76787560
|
0.00238
|
|
NM_016343.4(CENPF):c.3811A>G (p.Lys1271Glu)
|
rs62000407
|
0.00238
|
|
NM_000064.4(C3):c.2394C>T (p.Ser798=)
|
rs112178657
|
0.00237
|
|
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)
|
rs139468837
|
0.00237
|
|
NM_001384732.1(CPLANE1):c.8958+4A>C
|
rs199810663
|
0.00237
|
|
NM_003664.5(AP3B1):c.1040+9T>A
|
rs201876461
|
0.00237
|
|
NM_004426.3(PHC1):c.2110G>A (p.Ala704Thr)
|
rs144307674
|
0.00237
|
|
NM_022895.3(C12orf43):c.*2956C>T
|
rs112986697
|
0.00237
|
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
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_024809.5(TCTN2):c.720C>G (p.Pro240=)
|
rs149430216
|
0.00236
|
|
NM_025009.5(CEP135):c.638T>C (p.Val213Ala)
|
rs150331261
|
0.00236
|
|
NM_000096.4(CP):c.322C>T (p.His108Tyr)
|
rs34386552
|
0.00235
|
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
|
NM_000497.4(CYP11B1):c.395+9C>T
|
rs61751140
|
0.00235
|
|
NM_014141.6(CNTNAP2):c.3305T>C (p.Val1102Ala)
|
rs111599875
|
0.00235
|
|
NM_016734.3(PAX5):c.6T>A (p.Asp2Glu)
|
rs139701864
|
0.00235
|
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
|
NM_018117.12(WDR11):c.1425G>A (p.Pro475=)
|
rs117848117
|
0.00235
|
|
NM_020921.4(NIN):c.2987C>T (p.Ala996Val)
|
rs41313507
|
0.00235
|
|
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys)
|
rs145762575
|
0.00235
|
|
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)
|
rs139441507
|
0.00235
|
|
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)
|
rs149504235
|
0.00235
|
|
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=)
|
rs114896216
|
0.00234
|
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
|
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=)
|
rs146730044
|
0.00234
|
|
NM_002519.3(NPAT):c.3646A>G (p.Asn1216Asp)
|
rs189775078
|
0.00234
|
|
NM_004656.4(BAP1):c.960C>T (p.Cys320=)
|
rs143659795
|
0.00234
|
|
NM_020461.4(TUBGCP6):c.4929C>T (p.Asp1643=)
|
rs147939592
|
0.00234
|
|
NM_138425.4(C12orf57):c.86C>T (p.Ala29Val)
|
rs139938808
|
0.00234
|
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
|
NM_001017975.6(HFM1):c.2308G>A (p.Asp770Asn)
|
rs143399622
|
0.00233
|
|
NM_001377458.1(CLCC1):c.*2854T>C
|
rs138132875
|
0.00233
|
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
|
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser)
|
rs140146478
|
0.00233
|
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
|
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)
|
rs547268941
|
0.00233
|
|
NM_003184.4(TAF2):c.1262G>A (p.Gly421Glu)
|
rs61753748
|
0.00233
|
|
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)
|
rs142528559
|
0.00233
|
|
NM_005357.4(LIPE):c.1555G>A (p.Asp519Asn)
|
rs147012229
|
0.00233
|
|
NM_015107.3(PHF8):c.2720G>A (p.Arg907His)
|
rs142630105
|
0.00233
|
|
NM_015330.6(SPECC1L):c.2882C>T (p.Ala961Val)
|
rs5996694
|
0.00233
|
|
NM_018003.4(UACA):c.1374A>C (p.Gln458His)
|
rs78821209
|
0.00233
|
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
|
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=)
|
rs145589373
|
0.00232
|
|
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val)
|
rs56180593
|
0.00232
|
|
NM_002519.3(NPAT):c.750A>G (p.Arg250=)
|
rs184954520
|
0.00232
|
|
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=)
|
rs139575917
|
0.00232
|
|
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile)
|
rs143213152
|
0.00232
|
|
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)
|
rs142199280
|
0.00232
|
|
NM_025009.5(CEP135):c.2971A>G (p.Met991Val)
|
rs115646074
|
0.00232
|
|
NM_025077.4(TOE1):c.897C>T (p.Ile299=)
|
rs150174457
|
0.00232
|
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
|
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=)
|
rs10112748
|
0.00231
|
|
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)
|
rs62640002
|
0.00231
|
|
NM_017757.3(ZNF407):c.4278G>A (p.Leu1426=)
|
rs201719725
|
0.00231
|
|
NM_198576.4(AGRN):c.773C>T (p.Thr258Ile)
|
rs200607541
|
0.00231
|
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
|
NM_004752.4(GCM2):c.168G>C (p.Lys56Asn)
|
rs11963184
|
0.00230
|
|
NM_005257.6(GATA6):c.1374C>T (p.Asn458=)
|
rs143026087
|
0.00230
|
|
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)
|
rs149172723
|
0.00230
|
|
NM_014994.3(MAPKBP1):c.1420G>A (p.Val474Met)
|
rs142978237
|
0.00230
|
|
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu)
|
rs200992550
|
0.00230
|
|
NM_173630.4(RTTN):c.4303-8A>G
|
rs199597732
|
0.00230
|
|
NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met)
|
rs148816140
|
0.00229
|
|
NM_001048166.1(STIL):c.1024-4T>C
|
rs188900275
|
0.00229
|
|
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)
|
rs144177566
|
0.00229
|
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
|
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=)
|
rs61736186
|
0.00229
|
|
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter)
|
rs150070697
|
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_000458.4(HNF1B):c.444G>A (p.Ser148=)
|
rs147218489
|
0.00228
|
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00228
|
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
|
NM_006118.4(HAX1):c.207A>T (p.Pro69=)
|
rs142150013
|
0.00228
|
|
NM_007347.5(AP4E1):c.2346+10C>T
|
rs112190952
|
0.00228
|
|
NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg)
|
rs72895708
|
0.00228
|
|
NM_016553.5(NUP62):c.192C>T (p.Thr64=)
|
rs145084636
|
0.00228
|
|
NM_032638.5(GATA2):c.333C>T (p.His111=)
|
rs148554346
|
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_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
|
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile)
|
rs74317375
|
0.00227
|
|
NM_002435.3(MPI):c.414G>A (p.Met138Ile)
|
rs150217523
|
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_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)
|
rs142688906
|
0.00227
|
|
NM_014915.3(ANKRD26):c.531+10A>T
|
rs114367485
|
0.00227
|
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
|
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr)
|
rs11569541
|
0.00226
|
|
NM_001009999.3(KDM1A):c.2448G>A (p.Pro816=)
|
rs137940710
|
0.00226
|
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
|
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn)
|
rs113361507
|
0.00226
|
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
|
NM_001429.4(EP300):c.6636G>A (p.Gln2212=)
|
rs142673005
|
0.00225
|
|
NM_001903.5(CTNNA1):c.1167C>T (p.His389=)
|
rs61736921
|
0.00225
|
|
NM_004525.3(LRP2):c.769+9G>A
|
rs148452352
|
0.00225
|
|
NM_006180.6(NTRK2):c.2430C>T (p.Pro810=)
|
rs56142442
|
0.00225
|
|
NM_017934.7(PHIP):c.2256G>A (p.Arg752=)
|
rs149171291
|
0.00225
|
|
NM_000136.3(FANCC):c.*450G>A
|
rs149227790
|
0.00224
|
|
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_001101362.3(KBTBD13):c.1077A>G (p.Gly359=)
|
rs199526404
|
0.00224
|
|
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp)
|
rs145529594
|
0.00224
|
|
NM_001807.6(CEL):c.417C>T (p.Phe139=)
|
rs200157916
|
0.00224
|
|
NM_004153.4(ORC1):c.2427G>A (p.Glu809=)
|
rs77077945
|
0.00224
|
|
NM_018249.6(CDK5RAP2):c.34G>C (p.Val12Leu)
|
rs146839668
|
0.00224
|
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
|
NM_148919.4(PSMB8):c.501C>T (p.Leu167=)
|
rs11540143
|
0.00224
|
|
NM_198253.3(TERT):c.969G>A (p.Pro323=)
|
rs148549782
|
0.00224
|
|
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)
|
rs55696153
|
0.00223
|
|
NM_002206.3(ITGA7):c.882G>A (p.Val294=)
|
rs148190047
|
0.00223
|
|
NM_003159.2(CDKL5):c.-265C>G
|
rs587783397
|
0.00223
|
|
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met)
|
rs56737058
|
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_005475.3(SH2B3):c.729C>T (p.Pro243=)
|
rs539284730
|
0.00223
|
|
NM_005670.4(EPM2A):c.393G>A (p.Glu131=)
|
rs61758155
|
0.00223
|
|
NM_006005.3(WFS1):c.2124C>T (p.Arg708=)
|
rs61735401
|
0.00223
|
|
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr)
|
rs146685901
|
0.00223
|
|
NM_025077.4(TOE1):c.1379C>T (p.Pro460Leu)
|
rs149059377
|
0.00223
|
|
NM_152703.5(SAMD9L):c.1503A>G (p.Arg501=)
|
rs75446743
|
0.00223
|
|
NM_000383.4(AIRE):c.1296G>A (p.Ala432=)
|
rs144359012
|
0.00222
|
|
NM_000537.4(REN):c.22C>G (p.Pro8Ala)
|
rs61746500
|
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_001715.3(BLK):c.116C>T (p.Pro39Leu)
|
rs142352008
|
0.00222
|
|
NM_002354.3(EPCAM):c.858G>A (p.Leu286=)
|
rs138718438
|
0.00222
|
|
NM_004826.4(ECEL1):c.1858G>A (p.Asp620Asn)
|
rs142492002
|
0.00222
|
|
NM_005271.5(GLUD1):c.909A>C (p.Thr303=)
|
rs113997422
|
0.00222
|
|
NM_005343.4(HRAS):c.477G>A (p.Leu159=)
|
rs140060409
|
0.00222
|
|
NM_020987.5(ANK3):c.2523T>C (p.Asn841=)
|
rs144773457
|
0.00222
|
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
|
NM_173689.7(CRB2):c.468G>A (p.Leu156=)
|
rs146419635
|
0.00222
|
|
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu)
|
rs61736876
|
0.00221
|
|
NM_004304.5(ALK):c.592G>A (p.Val198Met)
|
rs77677701
|
0.00221
|
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00221
|
|
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu)
|
rs150801382
|
0.00221
|
|
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)
|
rs140308808
|
0.00221
|
|
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)
|
rs142903218
|
0.00221
|
|
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=)
|
rs145573166
|
0.00221
|
|
NM_000240.4(MAOA):c.515G>A (p.Arg172Gln)
|
rs58524323
|
0.00220
|
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
|
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)
|
rs144746030
|
0.00220
|
|
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys)
|
rs12161733
|
0.00220
|
|
NM_001366110.1(PAX4):c.599G>A (p.Arg200His)
|
rs2233580
|
0.00220
|
|
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=)
|
rs143527588
|
0.00220
|
|
NM_006363.6(SEC23B):c.689+10C>T
|
rs200020725
|
0.00220
|
|
NM_024306.5(FA2H):c.847G>A (p.Val283Ile)
|
rs138244546
|
0.00220
|
|
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155
|
0.00220
|
|
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)
|
rs117067974
|
0.00220
|
|
NM_182914.3(SYNE2):c.11935C>G (p.Leu3979Val)
|
rs76576553
|
0.00220
|
|
NM_198253.3(TERT):c.1574-7G>A
|
rs34846301
|
0.00220
|
|
NM_000135.4(FANCA):c.3514-4A>G
|
rs149388130
|
0.00219
|
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
|
NM_001379500.1(COL18A1):c.3314G>A (p.Arg1105Gln)
|
rs374207420
|
0.00219
|
|
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)
|
rs150399299
|
0.00219
|
|
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp)
|
rs41290646
|
0.00218
|
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
|
NM_001145306.2(CDK6):c.949A>T (p.Ser317Cys)
|
rs140409009
|
0.00218
|
|
NM_001199397.3(NEK1):c.975A>G (p.Gly325=)
|
rs150904906
|
0.00218
|
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
|
NM_004972.4(JAK2):c.3323A>G (p.Asn1108Ser)
|
rs142269166
|
0.00218
|
|
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)
|
rs151105762
|
0.00218
|
|
NM_152703.5(SAMD9L):c.3028C>G (p.Gln1010Glu)
|
rs117342581
|
0.00218
|
|
NM_177438.3(DICER1):c.485G>A (p.Gly162Asp)
|
rs142815547
|
0.00218
|
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
|
NM_001291303.3(FAT4):c.524G>T (p.Arg175Leu)
|
rs143534324
|
0.00217
|
|
NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser)
|
rs114698062
|
0.00217
|
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
|
NM_005592.4(MUSK):c.2202C>T (p.Gly734=)
|
rs143701488
|
0.00217
|
|
NM_012301.4(MAGI2):c.900A>G (p.Glu300=)
|
rs111635934
|
0.00217
|
|
NM_017780.4(CHD7):c.216T>C (p.Tyr72=)
|
rs16926453
|
0.00217
|
|
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)
|
rs144049904
|
0.00217
|
|
NM_020921.4(NIN):c.4288A>T (p.Ile1430Leu)
|
rs41299193
|
0.00217
|
|
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)
|
rs45540031
|
0.00217
|
|
NM_032531.4(KIRREL3):c.1983G>A (p.Leu661=)
|
rs375855596
|
0.00217
|
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
|
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr)
|
rs117774280
|
0.00217
|
|
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=)
|
rs140963173
|
0.00217
|
|
NM_203447.4(DOCK8):c.2310G>A (p.Glu770=)
|
rs116175117
|
0.00217
|
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
|
NM_001366110.1(PAX4):c.456C>T (p.Val152=)
|
rs61749955
|
0.00216
|
|
NM_005055.5(RAPSN):c.960G>A (p.Gly320=)
|
rs145357531
|
0.00216
|
|
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met)
|
rs62089120
|
0.00216
|
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
|
NM_000545.8(HNF1A):c.252C>T (p.Pro84=)
|
rs78772552
|
0.00215
|
|
NM_001083961.2(WDR62):c.4312-5T>G
|
rs182467995
|
0.00215
|
|
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=)
|
rs142281464
|
0.00215
|
|
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)
|
rs181295720
|
0.00215
|
|
NM_001493.3(GDI1):c.324C>T (p.Ser108=)
|
rs2230286
|
0.00215
|
|
NM_005357.4(LIPE):c.2224G>A (p.Gly742Arg)
|
rs45603141
|
0.00215
|
|
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=)
|
rs61730098
|
0.00215
|
|
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=)
|
rs141112920
|
0.00215
|
|
NM_032122.5(DTNBP1):c.662G>A (p.Arg221Gln)
|
rs76349207
|
0.00215
|
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
|
NM_001283009.2(RTEL1):c.2414-6C>T
|
rs376868750
|
0.00214
|
|
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln)
|
rs201609022
|
0.00214
|
|
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746
|
0.00214
|
|
NM_003235.5(TG):c.7665C>T (p.Arg2555=)
|
rs115139074
|
0.00214
|
|
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)
|
rs77021998
|
0.00214
|
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
|
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)
|
rs137956605
|
0.00213
|
|
NM_001014.5(RPS10):c.408C>T (p.Ala136=)
|
rs147566753
|
0.00213
|
|
NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg)
|
rs74039425
|
0.00213
|
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
|
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=)
|
rs61755436
|
0.00213
|
|
NM_021784.5(FOXA2):c.*6C>T
|
rs200967462
|
0.00213
|
|
NM_024301.5(FKRP):c.1440C>T (p.Asn480=)
|
rs115365212
|
0.00213
|
|
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)
|
rs35765535
|
0.00213
|
|
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met)
|
rs146250176
|
0.00213
|
|
NM_000534.5(PMS1):c.1609G>A (p.Glu537Lys)
|
rs151325573
|
0.00212
|
|
NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys)
|
rs148595483
|
0.00212
|
|
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)
|
rs111294855
|
0.00212
|
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
|
NM_014832.5(TBC1D4):c.1569A>C (p.Glu523Asp)
|
rs201972898
|
0.00212
|
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
0.00211
|
|
NM_001378778.1(MPDZ):c.1975G>A (p.Val659Ile)
|
rs77838108
|
0.00211
|
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
|
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)
|
rs150844616
|
0.00210
|
|
NM_001377.3(DYNC2H1):c.6909C>T (p.Tyr2303=)
|
rs191012679
|
0.00210
|
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
|
NM_005475.3(SH2B3):c.795G>A (p.Arg265=)
|
rs143256866
|
0.00210
|
|
NM_005525.4(HSD11B1):c.744G>C (p.Gly248=)
|
rs41283132
|
0.00210
|
|
NM_006949.4(STXBP2):c.1538+10C>T
|
rs139200597
|
0.00210
|
|
NM_014141.6(CNTNAP2):c.551-11T>G
|
rs78223661
|
0.00210
|
|
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=)
|
rs144271949
|
0.00210
|
|
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=)
|
rs115913738
|
0.00210
|
|
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)
|
rs73505420
|
0.00210
|
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
|
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=)
|
rs140783695
|
0.00209
|
|
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=)
|
rs112474841
|
0.00209
|
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
|
NM_012310.5(KIF4A):c.2118+7A>G
|
rs187401737
|
0.00209
|
|
NM_014491.4(FOXP2):c.552A>G (p.Gln184=)
|
rs146945410
|
0.00209
|
|
NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr)
|
rs144862123
|
0.00208
|
|
NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe)
|
rs11571656
|
0.00208
|
|
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=)
|
rs75221202
|
0.00208
|
|
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=)
|
rs149717696
|
0.00208
|
|
NM_001201550.3(CFHR4):c.774C>G (p.Asp258Glu)
|
rs144216823
|
0.00208
|
|
NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr)
|
rs6529
|
0.00208
|
|
NM_001673.5(ASNS):c.1587G>A (p.Arg529=)
|
rs140975053
|
0.00208
|
|
NM_004456.5(EZH2):c.1852-6C>T
|
rs78589034
|
0.00208
|
|
NM_012156.2(EPB41L1):c.1451C>T (p.Pro484Leu)
|
rs147654123
|
0.00208
|
|
NM_014271.4(IL1RAPL1):c.1959T>C (p.Pro653=)
|
rs143390107
|
0.00208
|
|
NM_024642.5(GALNT12):c.1497C>T (p.Asn499=)
|
rs35632007
|
0.00208
|
|
NM_000222.3(KIT):c.2361T>C (p.Asn787=)
|
rs140912933
|
0.00207
|
|
NM_001042413.2(GLIS3):c.1430C>T (p.Ala477Val)
|
rs114838275
|
0.00207
|
|
NM_001206999.2(CIT):c.5506G>A (p.Ala1836Thr)
|
rs149158991
|
0.00207
|
|
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln)
|
rs199652368
|
0.00207
|
|
NM_005732.4(RAD50):c.980G>A (p.Arg327His)
|
rs28903091
|
0.00207
|
|
NM_015080.4(NRXN2):c.3133A>G (p.Ser1045Gly)
|
rs148473653
|
0.00207
|
|
NM_016343.4(CENPF):c.1055A>G (p.Gln352Arg)
|
rs6697155
|
0.00207
|
|
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)
|
rs148328539
|
0.00207
|
|
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)
|
rs141663679
|
0.00207
|
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
|
NM_198253.3(TERT):c.3105C>T (p.Val1035=)
|
rs181612536
|
0.00207
|
|
NM_203447.4(DOCK8):c.528+7C>A
|
rs114833839
|
0.00207
|
|
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)
|
rs7437875
|
0.00206
|
|
NM_000540.3(RYR1):c.12283-7C>T
|
rs143861818
|
0.00206
|
|
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=)
|
rs141886903
|
0.00206
|
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
|
NM_001378778.1(MPDZ):c.2395A>G (p.Lys799Glu)
|
rs150038177
|
0.00206
|
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
|
NM_002878.4(RAD51D):c.771C>T (p.Ser257=)
|
rs146212490
|
0.00206
|
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
|
NM_006206.6(PDGFRA):c.2230C>T (p.Pro744Ser)
|
rs61735626
|
0.00206
|
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
|
NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=)
|
rs149152116
|
0.00206
|
|
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met)
|
rs144900277
|
0.00206
|
|
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)
|
rs76881473
|
0.00206
|
|
NM_000550.3(TYRP1):c.306C>T (p.Asn102=)
|
rs145152954
|
0.00205
|
|
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)
|
rs11900987
|
0.00205
|
|
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr)
|
rs137960641
|
0.00205
|
|
NM_003072.5(SMARCA4):c.*1G>T
|
rs76118382
|
0.00205
|
|
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val)
|
rs145085742
|
0.00205
|
|
NM_006910.5(RBBP6):c.4485A>G (p.Thr1495=)
|
rs141394682
|
0.00205
|
|
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995
|
0.00205
|
|
NM_014254.3(RXYLT1):c.294C>T (p.Leu98=)
|
rs114694892
|
0.00205
|
|
NM_152703.5(SAMD9L):c.3027T>C (p.Cys1009=)
|
rs149908158
|
0.00205
|
|
NM_153717.3(EVC):c.939+9C>T
|
rs201282320
|
0.00205
|
|
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)
|
rs148372053
|
0.00204
|
|
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile)
|
rs150242281
|
0.00204
|
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
|
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)
|
rs201074268
|
0.00204
|
|
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser)
|
rs34371341
|
0.00204
|
|
NM_004523.4(KIF11):c.2166T>G (p.Leu722=)
|
rs147721514
|
0.00204
|
|
NM_015107.3(PHF8):c.606C>T (p.Asn202=)
|
rs77581173
|
0.00204
|
|
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn)
|
rs201973930
|
0.00204
|
|
NM_032833.5(PPP1R15B):c.136G>A (p.Gly46Arg)
|
rs149785262
|
0.00204
|
|
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala)
|
rs114688149
|
0.00204
|
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
|
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)
|
rs149478199
|
0.00203
|
|
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=)
|
rs202045203
|
0.00203
|
|
NM_018136.5(ASPM):c.1922-14C>G
|
rs189193044
|
0.00203
|
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
|
NM_000381.4(MID1):c.75C>T (p.Cys25=)
|
rs140708189
|
0.00202
|
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
|
NM_001206999.2(CIT):c.1296-5C>T
|
rs182092782
|
0.00202
|
|
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln)
|
rs140565291
|
0.00202
|
|
NM_014915.3(ANKRD26):c.92G>C (p.Gly31Ala)
|
rs199849785
|
0.00202
|
|
NM_015080.4(NRXN2):c.3213C>G (p.Leu1071=)
|
rs139264192
|
0.00202
|
|
NM_024675.4(PALB2):c.1810C>T (p.Leu604=)
|
rs144015319
|
0.00202
|
|
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)
|
rs113217267
|
0.00202
|
|
NM_025009.5(CEP135):c.2755A>C (p.Arg919=)
|
rs151170797
|
0.00202
|
|
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)
|
rs1800338
|
0.00201
|
|
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)
|
rs148755655
|
0.00201
|
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
|
NM_001354604.2(MITF):c.366C>T (p.His122=)
|
rs140663277
|
0.00201
|
|
NM_002439.5(MSH3):c.1469C>A (p.Ser490Tyr)
|
rs76249824
|
0.00201
|
|
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala)
|
rs142245618
|
0.00201
|
|
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)
|
rs146601373
|
0.00201
|
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
|
NM_015922.3(NSDHL):c.750G>A (p.Ala250=)
|
rs141068024
|
0.00201
|
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
|
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=)
|
rs75593857
|
0.00200
|
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00200
|
|
NM_001113378.2(FANCI):c.3592-8T>C
|
rs185599057
|
0.00200
|
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
|
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe)
|
rs149812437
|
0.00200
|
|
NM_001415.4(EIF2S3):c.123A>G (p.Thr41=)
|
rs56229020
|
0.00200
|
|
NM_001754.5(RUNX1):c.303G>T (p.Val101=)
|
rs142472642
|
0.00200
|
|
NM_001903.5(CTNNA1):c.589-5T>C
|
rs186236339
|
0.00200
|
|
NM_003072.5(SMARCA4):c.4768+10G>A
|
rs201665695
|
0.00200
|
|
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=)
|
rs115892142
|
0.00200
|
|
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg)
|
rs147131853
|
0.00200
|
|
NM_006009.4(TUBA1A):c.189C>T (p.Pro63=)
|
rs147273934
|
0.00200
|
|
NM_006659.4(TUBGCP2):c.1825G>A (p.Ala609Thr)
|
rs142228780
|
0.00200
|
|
NM_020461.4(TUBGCP6):c.89G>A (p.Arg30Gln)
|
rs148626062
|
0.00200
|
|
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr)
|
rs148572278
|
0.00199
|
|
NM_000064.4(C3):c.2203C>T (p.Arg735Trp)
|
rs117793540
|
0.00198
|
|
NM_000168.6(GLI3):c.840C>G (p.Ser280=)
|
rs77084911
|
0.00198
|
|
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
|
rs115080759
|
0.00198
|
|
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967
|
0.00198
|
|
NM_004260.4(RECQL4):c.2223C>T (p.Ala741=)
|
rs34271972
|
0.00198
|
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
|
NM_006231.4(POLE):c.2106G>T (p.Gly702=)
|
rs5744801
|
0.00198
|
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
|
NM_024101.7(MLPH):c.1710G>A (p.Val570=)
|
rs41270745
|
0.00198
|
|
NM_002691.4(POLD1):c.56G>A (p.Arg19His)
|
rs3218773
|
0.00197
|
|
NM_004153.4(ORC1):c.403-7A>C
|
rs199834691
|
0.00197
|
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
|
NM_017721.5(CC2D1A):c.1449C>G (p.Pro483=)
|
rs201221633
|
0.00197
|
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
|
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala)
|
rs144914894
|
0.00197
|
|
NM_001330677.2(TBX15):c.837A>G (p.Thr279=)
|
rs140670116
|
0.00196
|
|
NM_003619.4(PRSS12):c.323C>G (p.Pro108Arg)
|
rs199996930
|
0.00196
|
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
|
NM_006015.6(ARID1A):c.318C>T (p.Asn106=)
|
rs551186176
|
0.00196
|
|
NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=)
|
rs201015016
|
0.00196
|
|
NM_022455.5(NSD1):c.2295C>T (p.Asn765=)
|
rs146767413
|
0.00196
|
|
NM_201525.4(ADGRG1):c.1017+8G>A
|
rs186479054
|
0.00196
|
|
NM_203447.4(DOCK8):c.380G>A (p.Arg127His)
|
rs150742426
|
0.00196
|
|
NM_206937.2(LIG4):c.686A>G (p.His229Arg)
|
rs142957638
|
0.00196
|
|
NM_000059.4(BRCA2):c.6937+565T>C
|
rs11571675
|
0.00195
|
|
NM_000376.3(VDR):c.909C>T (p.Ala303=)
|
rs12721365
|
0.00195
|
|
NM_001194998.2(CEP152):c.2262G>A (p.Glu754=)
|
rs149176738
|
0.00195
|
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
|
NM_001614.5(ACTG1):c.684C>T (p.Ala228=)
|
rs143125497
|
0.00195
|
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00195
|
|
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile)
|
rs199895011
|
0.00195
|
|
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=)
|
rs200369026
|
0.00195
|
|
NM_004304.5(ALK):c.1110G>A (p.Glu370=)
|
rs138784554
|
0.00195
|
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
|
NM_006031.6(PCNT):c.9700+10C>T
|
rs199917135
|
0.00195
|
|
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys)
|
rs199809018
|
0.00195
|
|
NM_030928.4(CDT1):c.1631A>T (p.Glu544Val)
|
rs144843732
|
0.00195
|
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
|
NM_130468.4(CHST14):c.288G>A (p.Arg96=)
|
rs371684007
|
0.00195
|
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
|
NM_000044.6(AR):c.1139C>G (p.Pro380Arg)
|
rs200510049
|
0.00194
|
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
|
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr)
|
rs75426387
|
0.00194
|
|
NM_001102401.4(TTI2):c.1115+7C>G
|
rs199720231
|
0.00194
|
|
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)
|
rs143815273
|
0.00194
|
|
NM_001364905.1(LRBA):c.*9G>T
|
rs150102345
|
0.00194
|
|
NM_002335.4(LRP5):c.1968C>T (p.His656=)
|
rs144847027
|
0.00194
|
|
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)
|
rs113194608
|
0.00194
|
|
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
|
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=)
|
rs113454700
|
0.00194
|
|
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)
|
rs61754871
|
0.00194
|
|
NM_000168.6(GLI3):c.280C>T (p.Leu94=)
|
rs115137047
|
0.00193
|
|
NM_000760.4(CSF3R):c.108C>T (p.Val36=)
|
rs3918011
|
0.00193
|
|
NM_001012339.3(DNAJC21):c.316-8T>G
|
rs182094106
|
0.00193
|
|
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)
|
rs139912214
|
0.00193
|
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
|
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=)
|
rs371410128
|
0.00193
|
|
NM_003611.3(OFD1):c.12+28G>C
|
rs181620366
|
0.00193
|
|
NM_016097.5(IER3IP1):c.147A>G (p.Lys49=)
|
rs61729777
|
0.00193
|
|
NM_020831.6(MRTFA):c.2281G>A (p.Asp761Asn)
|
rs145316385
|
0.00193
|
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
|
NM_024675.4(PALB2):c.2256A>G (p.Gly752=)
|
rs147120218
|
0.00193
|
|
NM_024757.5(EHMT1):c.480C>T (p.Gly160=)
|
rs150135875
|
0.00193
|
|
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His)
|
rs369805010
|
0.00193
|
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
|
NM_001254.4(CDC6):c.712A>G (p.Thr238Ala)
|
rs4135010
|
0.00192
|
|
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)
|
rs150319104
|
0.00192
|
|
NM_001543.5(NDST1):c.2589G>A (p.Leu863=)
|
rs148765445
|
0.00192
|
|
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=)
|
rs56108371
|
0.00192
|
|
NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr)
|
rs147341899
|
0.00192
|
|
NM_014915.3(ANKRD26):c.40G>A (p.Gly14Ser)
|
rs201068693
|
0.00192
|
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
|
NM_173630.4(RTTN):c.1330G>A (p.Gly444Arg)
|
rs199780405
|
0.00192
|
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
|
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)
|
rs113380721
|
0.00191
|
|
NM_001374828.1(ARID1B):c.2286G>A (p.Thr762=)
|
rs6912981
|
0.00191
|
|
NM_005670.4(EPM2A):c.719-4G>A
|
rs145030227
|
0.00191
|
|
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=)
|
rs74485823
|
0.00191
|
|
NM_001009999.3(KDM1A):c.1662T>C (p.Asp554=)
|
rs75011666
|
0.00190
|
|
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=)
|
rs75057869
|
0.00190
|
|
NM_001042492.3(NF1):c.2553C>T (p.Cys851=)
|
rs2230852
|
0.00190
|
|
NM_005045.4(RELN):c.8120-9T>C
|
rs74952625
|
0.00190
|
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
|
NM_006009.4(TUBA1A):c.246C>T (p.Thr82=)
|
rs1134868
|
0.00190
|
|
NM_006910.5(RBBP6):c.2862A>G (p.Leu954=)
|
rs143159988
|
0.00190
|
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
|
NM_017755.6(NSUN2):c.537+8A>G
|
rs149276590
|
0.00190
|
|
NM_021784.5(FOXA2):c.890C>T (p.Ala297Val)
|
rs200459003
|
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_022786.3(ARV1):c.64A>T (p.Thr22Ser)
|
rs143532693
|
0.00190
|
|
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=)
|
rs141797498
|
0.00190
|
|
NM_144628.4(TBC1D20):c.1005G>A (p.Gln335=)
|
rs35306023
|
0.00190
|
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
|
NM_000381.4(MID1):c.588C>G (p.Ala196=)
|
rs41303167
|
0.00189
|
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
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_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=)
|
rs61736269
|
0.00189
|
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
|
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=)
|
rs117995360
|
0.00189
|
|
NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile)
|
rs144662546
|
0.00189
|
|
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)
|
rs140899003
|
0.00189
|
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
|
NM_001082486.2(ACD):c.1336C>T (p.Leu446=)
|
rs1050346
|
0.00188
|
|
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)
|
rs142317580
|
0.00188
|
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
|
NM_002691.4(POLD1):c.378C>T (p.Arg126=)
|
rs145324823
|
0.00188
|
|
NM_003052.5(SLC34A1):c.284G>A (p.Arg95His)
|
rs145798898
|
0.00188
|
|
NM_004991.4(MECOM):c.3012C>T (p.Asn1004=)
|
rs116736168
|
0.00188
|
|
NM_005188.4(CBL):c.1359A>C (p.Pro453=)
|
rs34732429
|
0.00188
|
|
NM_014915.3(ANKRD26):c.1133A>G (p.Glu378Gly)
|
rs186243874
|
0.00188
|
|
NM_016343.4(CENPF):c.2398A>G (p.Ile800Val)
|
rs144034954
|
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_024809.5(TCTN2):c.654C>T (p.Leu218=)
|
rs138897437
|
0.00188
|
|
NM_032444.4(SLX4):c.2328-9G>C
|
rs73505419
|
0.00188
|
|
NM_144628.4(TBC1D20):c.256+10G>A
|
rs188223876
|
0.00188
|
|
NM_152384.3(BBS5):c.750C>T (p.Ile250=)
|
rs76138485
|
0.00188
|
|
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
|
NM_001040616.3(LINS1):c.1124C>T (p.Thr375Ile)
|
rs143097819
|
0.00187
|
|
NM_001080467.3(MYO5B):c.2343G>C (p.Lys781Asn)
|
rs61737448
|
0.00187
|
|
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)
|
rs36069919
|
0.00187
|
|
NM_001160372.4(TRAPPC9):c.3069C>T (p.Asp1023=)
|
rs144383785
|
0.00187
|
|
NM_002473.6(MYH9):c.165C>T (p.Ile55=)
|
rs141948797
|
0.00187
|
|
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly)
|
rs143954823
|
0.00187
|
|
NM_006734.4(HIVEP2):c.258G>A (p.Pro86=)
|
rs188298782
|
0.00187
|
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
|
NM_000096.4(CP):c.2793A>G (p.Leu931=)
|
rs34987997
|
0.00186
|
|
NM_001171613.2(PREPL):c.940A>T (p.Asn314Tyr)
|
rs140990611
|
0.00186
|
|
NM_006031.6(PCNT):c.7281C>T (p.Asp2427=)
|
rs138588682
|
0.00186
|
|
NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=)
|
rs149526010
|
0.00186
|
|
NM_015275.3(WASHC4):c.432A>G (p.Leu144=)
|
rs185918254
|
0.00186
|
|
NM_015275.3(WASHC4):c.866C>T (p.Ala289Val)
|
rs200763691
|
0.00186
|
|
NM_018263.6(ASXL2):c.3102G>T (p.Arg1034Ser)
|
rs144699852
|
0.00186
|
|
NM_020207.7(ERCC6L2):c.1140G>C (p.Leu380Phe)
|
rs150328847
|
0.00186
|
|
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)
|
rs185149177
|
0.00186
|
|
NM_133433.4(NIPBL):c.4320+14A>G
|
rs377381536
|
0.00186
|
|
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015
|
0.00186
|
|
NM_203395.3(IYD):c.604G>A (p.Ala202Thr)
|
rs146905706
|
0.00186
|
|
NM_000352.4(ABCC8):c.-215_-214del
|
rs902564696
|
0.00185
|
|
NM_001364905.1(LRBA):c.7404T>C (p.Ser2468=)
|
rs150550923
|
0.00185
|
|
NM_002519.3(NPAT):c.2418T>G (p.Asp806Glu)
|
rs200575398
|
0.00185
|
|
NM_004830.4(MED23):c.2814G>A (p.Ala938=)
|
rs145230681
|
0.00185
|
|
NM_005045.4(RELN):c.1377G>A (p.Arg459=)
|
rs73712207
|
0.00185
|
|
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu)
|
rs147945634
|
0.00185
|
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
|
NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=)
|
rs147726863
|
0.00185
|
|
NM_020207.7(ERCC6L2):c.4129G>A (p.Glu1377Lys)
|
rs35848327
|
0.00185
|
|
NM_022725.4(FANCF):c.246C>T (p.Asn82=)
|
rs139724351
|
0.00185
|
|
NM_173630.4(RTTN):c.5883G>A (p.Leu1961=)
|
rs35313369
|
0.00185
|
|
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln)
|
rs142434516
|
0.00185
|
|
NM_000236.3(LIPC):c.89-4G>A
|
rs184587533
|
0.00184
|
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
|
NM_000407.5(GP1BB):c.*77G>C
|
rs79998786
|
0.00184
|
|
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)
|
rs193056942
|
0.00184
|
|
NM_002582.4(PARN):c.840+6T>C
|
rs59687658
|
0.00184
|
|
NM_003611.3(OFD1):c.1654+8A>G
|
rs200767363
|
0.00184
|
|
NM_000064.4(C3):c.3216G>T (p.Arg1072=)
|
rs137880434
|
0.00183
|
|
NM_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
0.00183
|
|
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=)
|
rs149289227
|
0.00183
|
|
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=)
|
rs3741341
|
0.00183
|
|
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=)
|
rs146747080
|
0.00183
|
|
NM_001201550.3(CFHR4):c.1710C>G (p.Gly570=)
|
rs372354422
|
0.00183
|
|
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg)
|
rs141389465
|
0.00183
|
|
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr)
|
rs141063159
|
0.00183
|
|
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)
|
rs115003742
|
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_014008.5(CCDC22):c.1070C>G (p.Thr357Ser)
|
rs144685788
|
0.00183
|
|
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met)
|
rs33999936
|
0.00183
|
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
|
NM_001710.6(CFB):c.978A>C (p.Glu326Asp)
|
rs140166479
|
0.00182
|
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
|
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys)
|
rs112853262
|
0.00182
|
|
NM_024876.4(COQ8B):c.1036-3C>G
|
rs200061712
|
0.00182
|
|
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn)
|
rs184740744
|
0.00181
|
|
NM_001370259.2(MEN1):c.597C>T (p.His199=)
|
rs150512958
|
0.00181
|
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
|
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)
|
rs3739206
|
0.00181
|
|
NM_013328.4(PYCR2):c.615C>T (p.Leu205=)
|
rs55803945
|
0.00181
|
|
NM_016343.4(CENPF):c.3617A>G (p.Tyr1206Cys)
|
rs144237457
|
0.00181
|
|
NM_025009.5(CEP135):c.636A>C (p.Glu212Asp)
|
rs76941356
|
0.00181
|
|
NM_032237.5(POMK):c.902T>C (p.Met301Thr)
|
rs33920561
|
0.00181
|
|
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=)
|
rs144982584
|
0.00181
|
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
|
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=)
|
rs140678848
|
0.00180
|
|
NM_006662.3(SRCAP):c.132C>T (p.Gly44=)
|
rs149628651
|
0.00180
|
|
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val)
|
rs192358667
|
0.00180
|
|
NM_020738.4(KIDINS220):c.3586-7T>C
|
rs139887022
|
0.00180
|
|
NM_177438.3(DICER1):c.1825G>T (p.Asp609Tyr)
|
rs114947750
|
0.00180
|
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
|
NM_000534.5(PMS1):c.1895A>G (p.Asn632Ser)
|
rs2066456
|
0.00179
|
|
NM_001018115.3(FANCD2):c.4281+115C>A
|
rs78896323
|
0.00179
|
|
NM_001543.5(NDST1):c.73A>G (p.Ile25Val)
|
rs145198292
|
0.00179
|
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
|
NM_014994.3(MAPKBP1):c.3339C>T (p.Ser1113=)
|
rs146351506
|
0.00179
|
|
NM_024301.5(FKRP):c.1179A>G (p.Val393=)
|
rs145894568
|
0.00179
|
|
NM_198576.4(AGRN):c.3285C>G (p.Thr1095=)
|
rs149957221
|
0.00179
|
|
NM_000135.4(FANCA):c.1359+123C>G
|
rs17232609
|
0.00178
|
|
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=)
|
rs143944746
|
0.00178
|
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
|
NM_001378778.1(MPDZ):c.511C>G (p.Gln171Glu)
|
rs181479224
|
0.00178
|
|
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile)
|
rs149071226
|
0.00178
|
|
NM_005475.3(SH2B3):c.1031C>T (p.Pro344Leu)
|
rs147318193
|
0.00178
|
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
|
NM_017757.3(ZNF407):c.3285T>C (p.Ile1095=)
|
rs148940330
|
0.00178
|
|
NM_020699.4(GATAD2B):c.1229C>G (p.Ala410Gly)
|
rs114542403
|
0.00178
|
|
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=)
|
rs142333130
|
0.00178
|
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
|
NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser)
|
rs140183285
|
0.00178
|
|
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu)
|
rs79464236
|
0.00178
|
|
NM_138425.4(C12orf57):c.-3C>T
|
rs113296395
|
0.00178
|
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
|
NM_175875.5(SIX5):c.2173C>T (p.Leu725=)
|
rs112320524
|
0.00178
|
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
|
NM_198253.3(TERT):c.2517G>A (p.Thr839=)
|
rs140124989
|
0.00178
|
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
|
NM_001184.4(ATR):c.2844A>C (p.Ala948=)
|
rs147286949
|
0.00177
|
|
NM_001321142.2(CIDEC):c.139G>A (p.Val47Ile)
|
rs150971509
|
0.00177
|
|
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=)
|
rs17540624
|
0.00177
|
|
NM_002894.3(RBBP8):c.1367A>G (p.His456Arg)
|
rs139743319
|
0.00177
|
|
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)
|
rs61759495
|
0.00177
|
|
NM_005886.3(KATNB1):c.217A>G (p.Thr73Ala)
|
rs145567409
|
0.00177
|
|
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=)
|
rs150642468
|
0.00177
|
|
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)
|
rs143107549
|
0.00177
|
|
NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly)
|
rs147527383
|
0.00177
|
|
NM_198576.4(AGRN):c.2805+7G>A
|
rs190000918
|
0.00177
|
|
NM_000222.3(KIT):c.2805T>A (p.Ile935=)
|
rs72549296
|
0.00176
|
|
NM_000383.4(AIRE):c.63C>T (p.Ala21=)
|
rs371796437
|
0.00176
|
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
|
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln)
|
rs33958176
|
0.00176
|
|
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=)
|
rs148415080
|
0.00176
|
|
NM_001614.5(ACTG1):c.985-5T>C
|
rs370546734
|
0.00176
|
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
|
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)
|
rs140949805
|
0.00176
|
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
|
NM_018013.4(SOBP):c.1321C>T (p.Pro441Ser)
|
rs201319446
|
0.00176
|
|
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)
|
rs142473303
|
0.00176
|
|
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)
|
rs138825640
|
0.00175
|
|
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)
|
rs141363186
|
0.00175
|
|
NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu)
|
rs202004658
|
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_001244008.2(KIF1A):c.2958G>C (p.Val986=)
|
rs186881889
|
0.00175
|
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
|
NM_001813.3(CENPE):c.6928A>G (p.Ile2310Val)
|
rs111281600
|
0.00175
|
|
NM_002291.3(LAMB1):c.1590A>C (p.Ser530=)
|
rs139481973
|
0.00175
|
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
|
NM_006059.4(LAMC3):c.1520-6G>A
|
rs192031352
|
0.00175
|
|
NM_006734.4(HIVEP2):c.4654C>T (p.Pro1552Ser)
|
rs181273304
|
0.00175
|
|
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=)
|
rs145215555
|
0.00174
|
|
NM_001626.6(AKT2):c.945G>A (p.Glu315=)
|
rs150000674
|
0.00174
|
|
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg)
|
rs34431454
|
0.00174
|
|
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)
|
rs59190330
|
0.00174
|
|
NM_000352.6(ABCC8):c.945C>T (p.Ala315=)
|
rs138521721
|
0.00173
|
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00173
|
|
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs)
|
rs749052307
|
0.00173
|
|
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=)
|
rs142822908
|
0.00173
|
|
NM_016343.4(CENPF):c.6844A>G (p.Met2282Val)
|
rs61732016
|
0.00173
|
|
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)
|
rs140088149
|
0.00173
|
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
|
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=)
|
rs191249840
|
0.00173
|
|
NM_152703.5(SAMD9L):c.2127T>C (p.Phe709=)
|
rs7792360
|
0.00173
|
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
|
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=)
|
rs17227071
|
0.00172
|
|
NM_001042413.2(GLIS3):c.1092G>T (p.Pro364=)
|
rs74680081
|
0.00172
|
|
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro)
|
rs587780309
|
0.00172
|
|
NM_003184.4(TAF2):c.1655A>T (p.Tyr552Phe)
|
rs149772375
|
0.00172
|
|
NM_004655.4(AXIN2):c.1070G>A (p.Arg357His)
|
rs8081536
|
0.00172
|
|
NM_004991.4(MECOM):c.1707C>A (p.Pro569=)
|
rs141081950
|
0.00172
|
|
NM_014953.5(DIS3):c.2875T>C (p.Ter959Gln)
|
rs141067458
|
0.00172
|
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
|
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)
|
rs139633601
|
0.00172
|
|
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile)
|
rs73496064
|
0.00172
|
|
NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)
|
rs148721221
|
0.00172
|
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
|
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr)
|
rs61758405
|
0.00171
|
|
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)
|
rs121917739
|
0.00171
|
|
NM_002878.4(RAD51D):c.481-7G>A
|
rs145832514
|
0.00171
|
|
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)
|
rs35942532
|
0.00171
|
|
NM_005045.4(RELN):c.246C>G (p.Thr82=)
|
rs113242008
|
0.00171
|
|
NM_015450.3(POT1):c.751A>G (p.Met251Val)
|
rs148397357
|
0.00171
|
|
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile)
|
rs112829587
|
0.00171
|
|
NM_177438.3(DICER1):c.2115T>C (p.Ile705=)
|
rs140087741
|
0.00171
|
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
|
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=)
|
rs114968951
|
0.00170
|
|
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=)
|
rs138956153
|
0.00170
|
|
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu)
|
rs148123124
|
0.00170
|
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
|
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp)
|
rs143258862
|
0.00170
|
|
NM_024782.3(NHEJ1):c.707-7A>T
|
rs150521220
|
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_173660.5(DOK7):c.921C>T (p.Ala307=)
|
rs138148221
|
0.00170
|
|
NM_198576.4(AGRN):c.4116C>T (p.Ala1372=)
|
rs200170414
|
0.00170
|
|
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys)
|
rs34390308
|
0.00170
|
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
|
NM_000969.5(RPL5):c.325-11T>G
|
rs145058455
|
0.00169
|
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
|
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly)
|
rs144727288
|
0.00169
|
|
NM_024596.5(MCPH1):c.2466G>A (p.Gln822=)
|
rs35614690
|
0.00169
|
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
|
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
|
NM_000369.5(TSHR):c.357T>A (p.Pro119=)
|
rs144084915
|
0.00168
|
|
NM_000552.5(VWF):c.8378T>C (p.Val2793Ala)
|
rs143743709
|
0.00168
|
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
|
NM_001276270.2(MBD4):c.181T>C (p.Cys61Arg)
|
rs2307296
|
0.00168
|
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
|
NM_006015.6(ARID1A):c.135C>T (p.Ala45=)
|
rs892415319
|
0.00168
|
|
NM_014953.5(DIS3):c.1394A>G (p.Lys465Arg)
|
rs41286058
|
0.00168
|
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
|
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=)
|
rs148005445
|
0.00167
|
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
|
NM_013339.4(ALG6):c.1398A>T (p.Leu466=)
|
rs140158304
|
0.00167
|
|
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=)
|
rs61746542
|
0.00167
|
|
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val)
|
rs139719799
|
0.00167
|
|
NM_025009.5(CEP135):c.2398G>C (p.Asp800His)
|
rs143195447
|
0.00167
|
|
NM_030928.4(CDT1):c.900G>C (p.Gln300His)
|
rs143149360
|
0.00167
|
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
|
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)
|
rs138013482
|
0.00166
|
|
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=)
|
rs145662546
|
0.00166
|
|
NM_001145306.2(CDK6):c.328G>A (p.Asp110Asn)
|
rs35654944
|
0.00166
|
|
NM_001172509.2(SATB2):c.1818G>T (p.Pro606=)
|
rs141436870
|
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_004304.5(ALK):c.3594C>T (p.Leu1198=)
|
rs56071005
|
0.00166
|
|
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys)
|
rs115109161
|
0.00166
|
|
NM_005188.4(CBL):c.2484G>A (p.Pro828=)
|
rs149533467
|
0.00166
|
|
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu)
|
rs144664865
|
0.00166
|
|
NM_018036.7(ATG2B):c.2908C>T (p.Pro970Ser)
|
rs200385687
|
0.00166
|
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
|
NM_000135.4(FANCA):c.1360-10C>G
|
rs150836356
|
0.00165
|
|
NM_000214.3(JAG1):c.2301G>A (p.Thr767=)
|
rs147634857
|
0.00165
|
|
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)
|
rs41285286
|
0.00165
|
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
|
NM_001042413.2(GLIS3):c.954C>T (p.Thr318=)
|
rs75564360
|
0.00165
|
|
NM_001126049.2(KLLN):c.130G>C (p.Gly44Arg)
|
rs186106725
|
0.00165
|
|
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)
|
rs34718443
|
0.00165
|
|
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=)
|
rs138086853
|
0.00165
|
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
|
NM_016343.4(CENPF):c.1447-4T>C
|
rs151249612
|
0.00165
|
|
NM_018993.4(RIN2):c.1427C>G (p.Pro476Arg)
|
rs35142632
|
0.00165
|
|
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser)
|
rs141625803
|
0.00164
|
|
NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser)
|
rs78782061
|
0.00164
|
|
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe)
|
rs146289506
|
0.00164
|
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
|
NM_000352.6(ABCC8):c.1333-1051C>G
|
rs142558468
|
0.00163
|
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
|
NM_001144967.3(NEDD4L):c.2613C>T (p.Asn871=)
|
rs141136641
|
0.00163
|
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
|
NM_001348800.3(ZBTB20):c.2078C>T (p.Ala693Val)
|
rs150974347
|
0.00163
|
|
NM_001364905.1(LRBA):c.2472C>T (p.Thr824=)
|
rs149235577
|
0.00163
|
|
NM_001393392.1(AKR1C2):c.364G>A (p.Val122Ile)
|
rs145967531
|
0.00163
|
|
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=)
|
rs141463437
|
0.00163
|
|
NM_002168.4(IDH2):c.782G>A (p.Arg261His)
|
rs118101777
|
0.00163
|
|
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)
|
rs56101423
|
0.00163
|
|
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys)
|
rs146238335
|
0.00163
|
|
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp)
|
rs189308172
|
0.00163
|
|
NM_006346.4(PIBF1):c.151A>G (p.Ile51Val)
|
rs115330455
|
0.00163
|
|
NM_012156.2(EPB41L1):c.726C>T (p.Phe242=)
|
rs142551778
|
0.00163
|
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
|
NM_000503.6(EYA1):c.321T>C (p.Ala107=)
|
rs112282055
|
0.00162
|
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
|
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=)
|
rs148329158
|
0.00162
|
|
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val)
|
rs74553953
|
0.00162
|
|
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=)
|
rs80009262
|
0.00162
|
|
NM_020738.4(KIDINS220):c.3459C>T (p.Gly1153=)
|
rs199913532
|
0.00162
|
|
NM_144508.5(KNL1):c.4379T>C (p.Ile1460Thr)
|
rs187007187
|
0.00162
|
|
NM_001083961.2(WDR62):c.253G>A (p.Val85Met)
|
rs146274964
|
0.00161
|
|
NM_001282225.2(ADA2):c.542+7A>G
|
rs149078840
|
0.00161
|
|
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)
|
rs142007602
|
0.00161
|
|
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)
|
rs76726265
|
0.00161
|
|
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser)
|
rs201085962
|
0.00160
|
|
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=)
|
rs184389316
|
0.00160
|
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
|
NM_005357.4(LIPE):c.280G>A (p.Ala94Thr)
|
rs145456377
|
0.00160
|
|
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr)
|
rs35218685
|
0.00160
|
|
NM_017777.4(MKS1):c.12C>T (p.Thr4=)
|
rs372471169
|
0.00160
|
|
NM_022098.4(XPNPEP3):c.1056-9C>T
|
rs116758113
|
0.00160
|
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
|
NM_001377304.1(GFI1B):c.624G>A (p.Glu208=)
|
rs140900853
|
0.00159
|
|
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)
|
rs190698163
|
0.00159
|
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
|
NM_003235.5(TG):c.3035C>T (p.Pro1012Leu)
|
rs115936153
|
0.00159
|
|
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)
|
rs112170602
|
0.00159
|
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
|
NM_004431.5(EPHA2):c.2904G>C (p.Gln968His)
|
rs138818894
|
0.00159
|
|
NM_017755.6(NSUN2):c.222C>T (p.Leu74=)
|
rs138716662
|
0.00159
|
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
|
NM_032737.4(LMNB2):c.804C>T (p.Asp268=)
|
rs150969746
|
0.00159
|
|
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe)
|
rs35578485
|
0.00159
|
|
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His)
|
rs145704441
|
0.00158
|
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
|
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn)
|
rs111944585
|
0.00158
|
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
|
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=)
|
rs151335623
|
0.00158
|
|
NM_000760.4(CSF3R):c.1689C>A (p.Thr563=)
|
rs113047241
|
0.00158
|
|
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His)
|
rs148104401
|
0.00158
|
|
NM_007118.4(TRIO):c.6914G>A (p.Gly2305Asp)
|
rs552613615
|
0.00158
|
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
|
NM_014425.5(INVS):c.2193C>T (p.Gly731=)
|
rs148758887
|
0.00158
|
|
NM_025009.5(CEP135):c.2767G>A (p.Glu923Lys)
|
rs145959811
|
0.00158
|
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
|
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala)
|
rs139453594
|
0.00157
|
|
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=)
|
rs61752362
|
0.00157
|
|
NM_001379110.1(SLC9A6):c.*5_*6del
|
rs781795776
|
0.00157
|
|
NM_001379110.1(SLC9A6):c.*8A>T
|
rs200171451
|
0.00157
|
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
|
NM_004655.4(AXIN2):c.2439C>T (p.Ala813=)
|
rs149533605
|
0.00157
|
|
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg)
|
rs147189224
|
0.00157
|
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
|
NM_018451.5(CENPJ):c.175A>G (p.Thr59Ala)
|
rs138732534
|
0.00157
|
|
NM_030928.4(CDT1):c.1546C>T (p.Arg516Cys)
|
rs144721725
|
0.00157
|
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
|
NM_000553.6(WRN):c.355+4G>C
|
rs145764920
|
0.00156
|
|
NM_001110556.2(FLNA):c.1429+8C>T
|
rs202181557
|
0.00156
|
|
NM_001166290.2(KCNJ11):c.-17+514C>T
|
rs146464426
|
0.00156
|
|
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)
|
rs146597836
|
0.00156
|
|
NM_001377.3(DYNC2H1):c.12366+8A>G
|
rs200404815
|
0.00156
|
|
NM_001813.3(CENPE):c.7602C>T (p.Ser2534=)
|
rs148582447
|
0.00156
|
|
NM_002335.4(LRP5):c.2295G>A (p.Ser765=)
|
rs140955013
|
0.00156
|
|
NM_002470.4(MYH3):c.252G>A (p.Lys84=)
|
rs147410236
|
0.00156
|
|
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys)
|
rs144755294
|
0.00156
|
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
|
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)
|
rs143529486
|
0.00156
|
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
|
NM_018062.4(FANCL):c.817T>C (p.Leu273=)
|
rs61753272
|
0.00156
|
|
NM_152618.3(BBS12):c.105A>T (p.Ser35=)
|
rs35159397
|
0.00156
|
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00155
|
|
NM_000540.3(RYR1):c.2622G>A (p.Ala874=)
|
rs149381996
|
0.00155
|
|
NM_000552.5(VWF):c.1728G>T (p.Met576Ile)
|
rs150146744
|
0.00155
|
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
|
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=)
|
rs201941844
|
0.00155
|
|
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)
|
rs146426296
|
0.00155
|
|
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)
|
rs1805378
|
0.00155
|
|
NM_017654.4(SAMD9):c.4102G>A (p.Glu1368Lys)
|
rs138600971
|
0.00155
|
|
NM_018036.7(ATG2B):c.653A>G (p.His218Arg)
|
rs199569218
|
0.00155
|
|
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys)
|
rs143294539
|
0.00155
|
|
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr)
|
rs138138436
|
0.00155
|
|
NM_025009.5(CEP135):c.1740A>G (p.Arg580=)
|
rs59759676
|
0.00155
|
|
NM_000136.3(FANCC):c.840G>A (p.Ser280=)
|
rs34671520
|
0.00154
|
|
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)
|
rs34526305
|
0.00154
|
|
NM_000760.4(CSF3R):c.2334G>A (p.Ala778=)
|
rs116118817
|
0.00154
|
|
NM_001003787.4(STRADA):c.135G>A (p.Ala45=)
|
rs56163554
|
0.00154
|
|
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=)
|
rs139799727
|
0.00154
|
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
|
NM_001904.4(CTNNB1):c.1023C>T (p.Ser341=)
|
rs34343353
|
0.00154
|
|
NM_005045.4(RELN):c.77C>T (p.Ala26Val)
|
rs144557847
|
0.00154
|
|
NM_007254.4(PNKP):c.636+7G>A
|
rs3739187
|
0.00154
|
|
NM_020461.4(TUBGCP6):c.3651T>C (p.His1217=)
|
rs148914897
|
0.00154
|
|
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val)
|
rs139640224
|
0.00154
|
|
NM_194292.3(SASS6):c.873G>C (p.Arg291=)
|
rs61747274
|
0.00154
|
|
NM_000022.4(ADA):c.402C>T (p.Gly134=)
|
rs146921882
|
0.00153
|
|
NM_000338.3(SLC12A1):c.2481G>A (p.Val827=)
|
rs145469327
|
0.00153
|
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
|
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)
|
rs144051476
|
0.00153
|
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
|
NM_001303052.2(MYT1L):c.954C>T (p.Ser318=)
|
rs142499159
|
0.00153
|
|
NM_001903.5(CTNNA1):c.536C>T (p.Ala179Val)
|
rs28363394
|
0.00153
|
|
NM_004006.3(DMD):c.8571T>C (p.Thr2857=)
|
rs72466570
|
0.00153
|
|
NM_006086.4(TUBB3):c.435C>T (p.Ser145=)
|
rs146421795
|
0.00153
|
|
NM_012301.4(MAGI2):c.2213G>A (p.Arg738Gln)
|
rs145722885
|
0.00153
|
|
NM_015650.4(TRAF3IP1):c.165C>T (p.Asp55=)
|
rs138861670
|
0.00153
|
|
NM_016495.6(TBC1D7):c.678A>G (p.Lys226=)
|
rs17768021
|
0.00153
|
|
NM_017780.4(CHD7):c.712G>A (p.Val238Met)
|
rs200898742
|
0.00153
|
|
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln)
|
rs143822761
|
0.00153
|
|
NM_020461.4(TUBGCP6):c.3490G>A (p.Val1164Met)
|
rs9628306
|
0.00153
|
|
NM_020461.4(TUBGCP6):c.4223C>T (p.Ala1408Val)
|
rs142798996
|
0.00153
|
|
NM_020632.3(ATP6V0A4):c.2326G>A (p.Val776Ile)
|
rs142313541
|
0.00153
|
|
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)
|
rs148480919
|
0.00153
|
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
|
NM_138386.3(NAF1):c.1478A>C (p.Tyr493Ser)
|
rs143001503
|
0.00153
|
|
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser)
|
rs143885622
|
0.00152
|
|
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=)
|
rs145304925
|
0.00152
|
|
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)
|
rs145709687
|
0.00152
|
|
NM_002691.4(POLD1):c.971-4G>A
|
rs200144991
|
0.00152
|
|
NM_003070.5(SMARCA2):c.513C>A (p.Pro171=)
|
rs148002538
|
0.00152
|
|
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)
|
rs146044282
|
0.00152
|
|
NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser)
|
rs41274676
|
0.00152
|
|
NM_032415.7(CARD11):c.3019+9C>T
|
rs200741645
|
0.00152
|
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
|
NM_001059.3(TACR3):c.1246A>T (p.Asn416Tyr)
|
rs143073792
|
0.00151
|
|
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)
|
rs117632905
|
0.00151
|
|
NM_001160372.4(TRAPPC9):c.3012C>T (p.Asn1004=)
|
rs148805943
|
0.00151
|
|
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)
|
rs184545774
|
0.00151
|
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
|
NM_001378454.1(ALMS1):c.10079-11C>T
|
rs368250605
|
0.00151
|
|
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)
|
rs148453565
|
0.00151
|
|
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu)
|
rs201749187
|
0.00151
|
|
NM_015275.3(WASHC4):c.2465A>G (p.His822Arg)
|
rs187432521
|
0.00151
|
|
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)
|
rs145704211
|
0.00151
|
|
NM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser)
|
rs150861758
|
0.00151
|
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
|
NM_000533.5(PLP1):c.168A>G (p.Gln56=)
|
rs2233697
|
0.00150
|
|
NM_000760.4(CSF3R):c.1458G>A (p.Thr486=)
|
rs138289951
|
0.00150
|
|
NM_001009944.3(PKD1):c.5455G>T (p.Ala1819Ser)
|
rs202119008
|
0.00150
|
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
|
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln)
|
rs143163513
|
0.00150
|
|
NM_005921.2(MAP3K1):c.234C>T (p.Leu78=)
|
rs542526689
|
0.00150
|
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00150
|
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
|
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)
|
rs138886791
|
0.00150
|
|
NM_015275.3(WASHC4):c.2700A>C (p.Gly900=)
|
rs202242349
|
0.00150
|
|
NM_018136.5(ASPM):c.5299G>C (p.Ala1767Pro)
|
rs142536561
|
0.00150
|
|
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=)
|
rs144723485
|
0.00150
|
|
NM_019023.5(PRMT7):c.420C>A (p.Ile140=)
|
rs72792215
|
0.00150
|
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
|
NM_001372044.2(SHANK3):c.1190+7C>T
|
rs186106384
|
0.00149
|
|
NM_001904.4(CTNNB1):c.1272T>C (p.Leu424=)
|
rs4135379
|
0.00149
|
|
NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro)
|
rs572205361
|
0.00149
|
|
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
|
rs143796569
|
0.00149
|
|
NM_006231.4(POLE):c.5124C>T (p.Phe1708=)
|
rs114891564
|
0.00149
|
|
NM_015330.6(SPECC1L):c.2886G>A (p.Ser962=)
|
rs139166286
|
0.00149
|
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
|
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=)
|
rs118175551
|
0.00148
|
|
NM_003482.4(KMT2D):c.9765T>C (p.His3255=)
|
rs146213252
|
0.00148
|
|
NM_007137.5(ZNF81):c.417A>G (p.Ile139Met)
|
rs189835360
|
0.00148
|
|
NM_014875.3(KIF14):c.3039G>A (p.Lys1013=)
|
rs77213709
|
0.00148
|
|
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=)
|
rs140496149
|
0.00148
|
|
NM_016222.4(DDX41):c.1233G>A (p.Glu411=)
|
rs147023941
|
0.00148
|
|
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg)
|
rs143260721
|
0.00148
|
|
NM_025099.6(CTC1):c.477G>T (p.Leu159=)
|
rs200658590
|
0.00148
|
|
NM_032415.7(CARD11):c.1812C>T (p.Asp604=)
|
rs149270244
|
0.00148
|
|
NM_001134831.2(AHI1):c.72T>C (p.Ser24=)
|
rs73777558
|
0.00147
|
|
NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met)
|
rs140157207
|
0.00147
|
|
NM_002291.3(LAMB1):c.1945G>A (p.Asp649Asn)
|
rs142386151
|
0.00147
|
|
NM_006361.6(HOXB13):c.735G>A (p.Lys245=)
|
rs138675188
|
0.00147
|
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
|
NM_012309.5(SHANK2):c.4287T>C (p.Ala1429=)
|
rs116984460
|
0.00147
|
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
|
NM_019066.5(MAGEL2):c.853G>A (p.Gly285Arg)
|
rs143908070
|
0.00147
|
|
NM_020937.4(FANCM):c.1041G>A (p.Pro347=)
|
rs140998495
|
0.00147
|
|
NM_024876.4(COQ8B):c.344T>C (p.Met115Thr)
|
rs148374624
|
0.00147
|
|
NM_030928.4(CDT1):c.1581G>A (p.Ala527=)
|
rs77893539
|
0.00147
|
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00147
|
|
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr)
|
rs140868933
|
0.00146
|
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
|
NM_001201550.3(CFHR4):c.699G>C (p.Trp233Cys)
|
rs116119247
|
0.00146
|
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
|
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg)
|
rs75007073
|
0.00146
|
|
NM_003383.5(VLDLR):c.1162C>T (p.Leu388=)
|
rs114172780
|
0.00146
|
|
NM_004840.3(ARHGEF6):c.685G>A (p.Val229Ile)
|
rs75329154
|
0.00146
|
|
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)
|
rs28903086
|
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_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
|
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)
|
rs146588336
|
0.00145
|
|
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=)
|
rs115772068
|
0.00145
|
|
NM_001184.4(ATR):c.4576A>G (p.Ile1526Val)
|
rs34124242
|
0.00145
|
|
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)
|
rs145639192
|
0.00145
|
|
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=)
|
rs200248561
|
0.00145
|
|
NM_001543.5(NDST1):c.239G>A (p.Arg80His)
|
rs145390254
|
0.00145
|
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
|
NM_014264.5(PLK4):c.17G>A (p.Gly6Glu)
|
rs149003893
|
0.00145
|
|
NM_018249.6(CDK5RAP2):c.2826A>T (p.Ile942=)
|
rs142596662
|
0.00145
|
|
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile)
|
rs143351214
|
0.00145
|
|
NM_022436.3(ABCG5):c.696C>T (p.Val232=)
|
rs72796720
|
0.00145
|
|
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)
|
rs146131711
|
0.00145
|
|
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe)
|
rs149334244
|
0.00145
|
|
NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile)
|
rs201806251
|
0.00145
|
|
NM_152703.5(SAMD9L):c.4170G>A (p.Leu1390=)
|
rs143928644
|
0.00145
|
|
NM_181741.4(ORC4):c.1090G>A (p.Val364Ile)
|
rs138876526
|
0.00145
|
|
NM_201525.4(ADGRG1):c.1017+35C>T
|
rs190924974
|
0.00145
|
|
NM_203447.4(DOCK8):c.332+9T>G
|
rs113744378
|
0.00145
|
|
NM_000156.6(GAMT):c.392-7C>T
|
rs192416474
|
0.00144
|
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
|
NM_001012339.3(DNAJC21):c.1186-531G>A
|
rs112971776
|
0.00144
|
|
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys)
|
rs147499593
|
0.00144
|
|
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val)
|
rs117295656
|
0.00144
|
|
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=)
|
rs114292675
|
0.00144
|
|
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)
|
rs115372595
|
0.00144
|
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
|
NM_030962.4(SBF2):c.2337C>T (p.Ser779=)
|
rs140730386
|
0.00144
|
|
NM_144508.5(KNL1):c.*7G>C
|
rs565293268
|
0.00144
|
|
NM_144508.5(KNL1):c.*8G>T
|
rs758759341
|
0.00144
|
|
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)
|
rs138661755
|
0.00144
|
|
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr)
|
rs140015545
|
0.00144
|
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
|
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)
|
rs61754365
|
0.00143
|
|
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys)
|
rs150838215
|
0.00143
|
|
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp)
|
rs142193069
|
0.00143
|
|
NM_004187.5(KDM5C):c.2823A>G (p.Ser941=)
|
rs143955805
|
0.00143
|
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
|
NM_004380.3(CREBBP):c.4133+19T>C
|
rs202204380
|
0.00143
|
|
NM_006009.4(TUBA1A):c.396C>T (p.Leu132=)
|
rs1143560
|
0.00143
|
|
NM_006420.3(ARFGEF2):c.1275C>T (p.His425=)
|
rs117131028
|
0.00143
|
|
NM_012301.4(MAGI2):c.219C>T (p.Pro73=)
|
rs148240352
|
0.00143
|
|
NM_024675.4(PALB2):c.2742C>T (p.Phe914=)
|
rs115759702
|
0.00143
|
|
NM_025000.4(DCAF17):c.1320T>C (p.Ala440=)
|
rs3731980
|
0.00143
|
|
NM_144508.5(KNL1):c.*4_*5insAT
|
rs538937570
|
0.00143
|
|
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)
|
rs146115506
|
0.00143
|
|
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser)
|
rs61750441
|
0.00143
|
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
|
NM_000064.4(C3):c.2901C>T (p.Leu967=)
|
rs34029609
|
0.00142
|
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
|
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=)
|
rs149893977
|
0.00142
|
|
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)
|
rs55775473
|
0.00141
|
|
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=)
|
rs80027401
|
0.00141
|
|
NM_001312909.2(FAM111A):c.828A>G (p.Ala276=)
|
rs149943652
|
0.00141
|
|
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=)
|
rs77144869
|
0.00141
|
|
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)
|
rs189411650
|
0.00141
|
|
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)
|
rs139671268
|
0.00141
|
|
NM_005732.4(RAD50):c.943G>T (p.Val315Leu)
|
rs28903090
|
0.00141
|
|
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)
|
rs41304587
|
0.00141
|
|
NM_015599.3(PGM3):c.1174G>C (p.Glu392Gln)
|
rs149679266
|
0.00141
|
|
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln)
|
rs200354654
|
0.00141
|
|
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)
|
rs140051968
|
0.00141
|
|
NM_144508.5(KNL1):c.4170T>A (p.Asp1390Glu)
|
rs141726041
|
0.00141
|
|
NM_152703.5(SAMD9L):c.1696G>A (p.Ala566Thr)
|
rs143593856
|
0.00141
|
|
NM_207361.6(FREM2):c.5642-9T>C
|
rs148794835
|
0.00141
|
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
|
NM_000540.3(RYR1):c.11141+7A>G
|
rs78350770
|
0.00140
|
|
NM_000540.3(RYR1):c.2919C>T (p.His973=)
|
rs139363830
|
0.00140
|
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
|
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=)
|
rs146007249
|
0.00140
|
|
NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser)
|
rs140161845
|
0.00140
|
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
|
NM_005027.4(PIK3R2):c.*6G>A
|
rs557654906
|
0.00140
|
|
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)
|
rs114684479
|
0.00140
|
|
NM_017757.3(ZNF407):c.1927T>C (p.Leu643=)
|
rs139800364
|
0.00140
|
|
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser)
|
rs115475262
|
0.00140
|
|
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu)
|
rs139844197
|
0.00140
|
|
NM_019066.5(MAGEL2):c.3657G>A (p.Ala1219=)
|
rs140288382
|
0.00140
|
|
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=)
|
rs77912754
|
0.00140
|
|
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)
|
rs201280372
|
0.00140
|
|
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)
|
rs115076367
|
0.00140
|
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
|
NM_001111125.3(IQSEC2):c.3452-22G>A
|
rs369906117
|
0.00139
|
|
NM_004629.2(FANCG):c.646+12A>G
|
rs17878604
|
0.00139
|
|
NM_015175.3(NBEAL2):c.4185G>A (p.Pro1395=)
|
rs115350407
|
0.00139
|
|
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)
|
rs56006128
|
0.00138
|
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
|
NM_001010898.4(SLC6A17):c.525G>A (p.Pro175=)
|
rs142901935
|
0.00138
|
|
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=)
|
rs148667984
|
0.00138
|
|
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)
|
rs187153231
|
0.00138
|
|
NM_001429.4(EP300):c.1878+9C>G
|
rs186198699
|
0.00138
|
|
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)
|
rs34932223
|
0.00138
|
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
|
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His)
|
rs150646039
|
0.00138
|
|
NM_014915.3(ANKRD26):c.4259G>A (p.Cys1420Tyr)
|
rs146159734
|
0.00138
|
|
NM_020975.6(RET):c.654G>A (p.Pro218=)
|
rs137928436
|
0.00138
|
|
NM_021252.5(RAB18):c.264T>C (p.Tyr88=)
|
rs146846414
|
0.00138
|
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00138
|
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
|
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)
|
rs140823801
|
0.00137
|
|
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr)
|
rs139749569
|
0.00137
|
|
NM_005188.4(CBL):c.2190G>C (p.Thr730=)
|
rs143840974
|
0.00137
|
|
NM_012156.2(EPB41L1):c.2332A>G (p.Thr778Ala)
|
rs199993775
|
0.00137
|
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
|
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys)
|
rs151050191
|
0.00137
|
|
NM_020831.6(MRTFA):c.3054C>T (p.Leu1018=)
|
rs148865274
|
0.00137
|
|
NM_000781.3(CYP11A1):c.650A>C (p.Glu217Ala)
|
rs143879080
|
0.00136
|
|
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=)
|
rs199802825
|
0.00136
|
|
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=)
|
rs148976893
|
0.00136
|
|
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)
|
rs75133741
|
0.00136
|
|
NM_005886.3(KATNB1):c.1678C>T (p.Leu560=)
|
rs113265906
|
0.00136
|
|
NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg)
|
rs141748831
|
0.00136
|
|
NM_025099.6(CTC1):c.2478A>G (p.Thr826=)
|
rs200643329
|
0.00136
|
|
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln)
|
rs149918318
|
0.00136
|
|
NM_000336.3(SCNN1B):c.181G>A (p.Ala61Thr)
|
rs72654321
|
0.00135
|
|
NM_000760.4(CSF3R):c.1410G>A (p.Ala470=)
|
rs3917988
|
0.00135
|
|
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile)
|
rs121918426
|
0.00135
|
|
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)
|
rs142507451
|
0.00135
|
|
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=)
|
rs201592993
|
0.00135
|
|
NM_001429.4(EP300):c.5061+10G>A
|
rs78432056
|
0.00135
|
|
NM_002354.3(EPCAM):c.831A>G (p.Ile277Met)
|
rs115283528
|
0.00135
|
|
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378
|
0.00135
|
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
|
NM_002732.4(PRKACG):c.239T>C (p.Val80Ala)
|
rs148063597
|
0.00135
|
|
NM_003235.5(TG):c.1567T>C (p.Ser523Pro)
|
rs116062097
|
0.00135
|
|
NM_005445.4(SMC3):c.2934G>A (p.Lys978=)
|
rs147463420
|
0.00135
|
|
NM_014953.5(DIS3):c.1202C>T (p.Ala401Val)
|
rs76698610
|
0.00135
|
|
NM_138711.6(PPARG):c.913G>C (p.Val305Leu)
|
rs139894525
|
0.00135
|
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
|
NM_000208.4(INSR):c.2736G>A (p.Arg912=)
|
rs147125937
|
0.00134
|
|
NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=)
|
rs78858677
|
0.00134
|
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
|
NM_020461.4(TUBGCP6):c.2991C>T (p.Ser997=)
|
rs143388326
|
0.00134
|
|
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=)
|
rs141218500
|
0.00134
|
|
NM_030632.3(ASXL3):c.2965C>G (p.Arg989Gly)
|
rs190659120
|
0.00134
|
|
NM_212550.5(BLOC1S3):c.491G>A (p.Arg164His)
|
rs200567085
|
0.00134
|
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
|
NM_000553.6(WRN):c.144A>G (p.Glu48=)
|
rs145959045
|
0.00133
|
|
NM_001543.5(NDST1):c.1458C>T (p.Cys486=)
|
rs148231731
|
0.00133
|
|
NM_004525.3(LRP2):c.3110G>A (p.Arg1037Lys)
|
rs147058423
|
0.00133
|
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
|
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)
|
rs116192442
|
0.00133
|
|
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln)
|
rs146051561
|
0.00133
|
|
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met)
|
rs202071400
|
0.00133
|
|
NM_017668.3(NDE1):c.723G>T (p.Gly241=)
|
rs570994490
|
0.00133
|
|
NM_022455.5(NSD1):c.2835T>C (p.Ser945=)
|
rs145987330
|
0.00133
|
|
NM_024824.5(ZC3H14):c.744T>C (p.Asp248=)
|
rs144601125
|
0.00133
|
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
|
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=)
|
rs80069610
|
0.00133
|
|
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)
|
rs150550701
|
0.00133
|
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
|
NM_000276.4(OCRL):c.39+10G>A
|
rs765141317
|
0.00132
|
|
NM_004714.3(DYRK1B):c.83T>C (p.Leu28Pro)
|
rs34587974
|
0.00132
|
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
|
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=)
|
rs148060509
|
0.00132
|
|
NM_000212.3(ITGB3):c.1959C>T (p.Asp653=)
|
rs112717328
|
0.00131
|
|
NM_000516.7(GNAS):c.306G>A (p.Ala102=)
|
rs117849691
|
0.00131
|
|
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)
|
rs5217
|
0.00131
|
|
NM_001004320.2(AGMO):c.653C>T (p.Pro218Leu)
|
rs150962030
|
0.00131
|
|
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=)
|
rs116380142
|
0.00131
|
|
NM_001130969.3(NSMF):c.71+9G>A
|
rs587781103
|
0.00131
|
|
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr)
|
rs149609550
|
0.00131
|
|
NM_001366110.1(PAX4):c.636C>T (p.Asp212=)
|
rs141407429
|
0.00131
|
|
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)
|
rs114012742
|
0.00131
|
|
NM_005357.4(LIPE):c.2181C>T (p.Gly727=)
|
rs192667531
|
0.00131
|
|
NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro)
|
rs143257313
|
0.00131
|
|
NM_006947.4(SRP72):c.1803G>A (p.Gly601=)
|
rs143643243
|
0.00131
|
|
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=)
|
rs140803915
|
0.00131
|
|
NM_014875.3(KIF14):c.1860A>G (p.Leu620=)
|
rs150703642
|
0.00131
|
|
NM_018341.3(ERMARD):c.1480C>G (p.Arg494Gly)
|
rs144908519
|
0.00131
|
|
NM_031407.7(HUWE1):c.3966G>A (p.Leu1322=)
|
rs140959967
|
0.00131
|
|
NM_032444.4(SLX4):c.422G>T (p.Gly141Val)
|
rs77306735
|
0.00131
|
|
NM_198576.4(AGRN):c.5832C>T (p.Thr1944=)
|
rs143373928
|
0.00131
|
|
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)
|
rs142272833
|
0.00130
|
|
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)
|
rs143286419
|
0.00130
|
|
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val)
|
rs148633216
|
0.00130
|
|
NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala)
|
rs139027440
|
0.00130
|
|
NM_006180.6(NTRK2):c.500C>A (p.Ser167Tyr)
|
rs76950094
|
0.00130
|
|
NM_006662.3(SRCAP):c.8755C>T (p.Leu2919Phe)
|
rs149217909
|
0.00130
|
|
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg)
|
rs201373710
|
0.00130
|
|
NM_021008.4(DEAF1):c.231C>T (p.Asp77=)
|
rs371538775
|
0.00130
|
|
NM_030632.3(ASXL3):c.3465G>A (p.Ser1155=)
|
rs116554010
|
0.00130
|
|
NM_213622.4(STAMBP):c.499G>A (p.Glu167Lys)
|
rs140651555
|
0.00130
|
|
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)
|
rs144512551
|
0.00129
|
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
|
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val)
|
rs146709578
|
0.00129
|
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
|
NM_005491.5(MAMLD1):c.2157C>G (p.Ser719=)
|
rs782661439
|
0.00129
|
|
NM_006306.4(SMC1A):c.1545+4A>C
|
rs377270943
|
0.00129
|
|
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu)
|
rs148724199
|
0.00129
|
|
NM_020831.6(MRTFA):c.1993G>A (p.Ala665Thr)
|
rs72655385
|
0.00129
|
|
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=)
|
rs140107312
|
0.00129
|
|
NM_145239.3(PRRT2):c.612C>G (p.Pro204=)
|
rs149260055
|
0.00129
|
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
|
NM_000352.6(ABCC8):c.1332+4del
|
rs587783164
|
0.00128
|
|
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
|
NM_001099274.3(TINF2):c.400-9C>T
|
rs201087708
|
0.00128
|
|
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=)
|
rs3848671
|
0.00128
|
|
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=)
|
rs138074015
|
0.00128
|
|
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)
|
rs73019664
|
0.00128
|
|
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=)
|
rs201310509
|
0.00128
|
|
NM_001614.5(ACTG1):c.18C>T (p.Ala6=)
|
rs145211830
|
0.00128
|
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
|
NM_004523.4(KIF11):c.1879G>T (p.Val627Leu)
|
rs142601912
|
0.00128
|
|
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu)
|
rs74006838
|
0.00128
|
|
NM_005592.4(MUSK):c.486+7G>C
|
rs187497836
|
0.00128
|
|
NM_007254.4(PNKP):c.831G>A (p.Thr277=)
|
rs148491228
|
0.00128
|
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
|
NM_020937.4(FANCM):c.2268C>A (p.Arg756=)
|
rs146061601
|
0.00128
|
|
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=)
|
rs142208336
|
0.00128
|
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
|
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln)
|
rs200586078
|
0.00127
|
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
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_001247997.2(CLIP1):c.297C>T (p.Asn99=)
|
rs141383610
|
0.00127
|
|
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala)
|
rs151043891
|
0.00127
|
|
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=)
|
rs61735808
|
0.00127
|
|
NM_015202.5(KATNIP):c.4745T>C (p.Met1582Thr)
|
rs145613851
|
0.00127
|
|
NM_016222.4(DDX41):c.139-4T>G
|
rs192297583
|
0.00127
|
|
NM_021784.5(FOXA2):c.465G>A (p.Lys155=)
|
rs147303608
|
0.00127
|
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
|
NM_000969.5(RPL5):c.*1A>G
|
rs11540833
|
0.00126
|
|
NM_002291.3(LAMB1):c.1736G>A (p.Arg579Gln)
|
rs115518856
|
0.00126
|
|
NM_004523.4(KIF11):c.2044C>G (p.Leu682Val)
|
rs141856144
|
0.00126
|
|
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe)
|
rs149469954
|
0.00126
|
|
NM_005249.5(FOXG1):c.447C>T (p.Ala149=)
|
rs112803404
|
0.00126
|
|
NM_017780.4(CHD7):c.3522+13T>A
|
rs199581494
|
0.00126
|
|
NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu)
|
rs139022925
|
0.00126
|
|
NM_022095.4(ZNF335):c.3392G>A (p.Arg1131Lys)
|
rs114864530
|
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_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
|
NM_000195.5(HPS1):c.557C>T (p.Ala186Val)
|
rs1801286
|
0.00125
|
|
NM_000439.5(PCSK1):c.1197-9C>T
|
rs200973203
|
0.00125
|
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00125
|
|
NM_000760.4(CSF3R):c.1577-12C>G
|
rs200420429
|
0.00125
|
|
NM_001014.5(RPS10):c.231G>A (p.Gln77=)
|
rs147863199
|
0.00125
|
|
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)
|
rs201044013
|
0.00125
|
|
NM_001127208.3(TET2):c.2604T>G (p.Phe868Leu)
|
rs147836249
|
0.00125
|
|
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val)
|
rs55868891
|
0.00125
|
|
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)
|
rs17541165
|
0.00125
|
|
NM_002024.6(FMR1):c.1572C>T (p.Ser524=)
|
rs143889976
|
0.00125
|
|
NM_002547.3(OPHN1):c.702+11A>C
|
rs375325266
|
0.00125
|
|
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)
|
rs149973644
|
0.00125
|
|
NM_006734.4(HIVEP2):c.2178C>T (p.Ser726=)
|
rs149027798
|
0.00125
|
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
|
NM_017757.3(ZNF407):c.5589G>A (p.Val1863=)
|
rs183815209
|
0.00125
|
|
NM_030928.4(CDT1):c.514C>T (p.Arg172Cys)
|
rs3218727
|
0.00125
|
|
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)
|
rs140600202
|
0.00125
|
|
NM_144508.5(KNL1):c.165C>T (p.Asn55=)
|
rs201818761
|
0.00125
|
|
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)
|
rs201062903
|
0.00124
|
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
|
NM_000162.5(GCK):c.208+11G>A
|
rs77440690
|
0.00124
|
|
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)
|
rs35625434
|
0.00124
|
|
NM_001042492.3(NF1):c.4577+11C>G
|
rs190614908
|
0.00124
|
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
|
NM_001378615.1(CC2D2A):c.2181+7A>C
|
rs143681243
|
0.00124
|
|
NM_001387430.1(SH2B1):c.269C>A (p.Pro90His)
|
rs149091795
|
0.00124
|
|
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter)
|
rs144321381
|
0.00124
|
|
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val)
|
rs201931833
|
0.00124
|
|
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=)
|
rs183688784
|
0.00124
|
|
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=)
|
rs61731405
|
0.00124
|
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
|
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)
|
rs145883811
|
0.00124
|
|
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)
|
rs139037316
|
0.00124
|
|
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)
|
rs143511306
|
0.00124
|
|
NM_015330.6(SPECC1L):c.1542G>A (p.Gln514=)
|
rs139026931
|
0.00124
|
|
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala)
|
rs767318857
|
0.00124
|
|
NM_024753.5(TTC21B):c.2161A>C (p.Asn721His)
|
rs146637219
|
0.00124
|
|
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)
|
rs145374149
|
0.00124
|
|
NM_030773.4(TUBB1):c.638G>A (p.Arg213His)
|
rs62639975
|
0.00124
|
|
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu)
|
rs34878178
|
0.00124
|
|
NM_173560.4(RFX6):c.2369G>A (p.Gly790Glu)
|
rs57924353
|
0.00124
|
|
NM_198253.3(TERT):c.534C>T (p.Leu178=)
|
rs370420108
|
0.00124
|
|
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687
|
0.00123
|
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
|
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060
|
0.00123
|
|
NM_001199298.2(UIMC1):c.1138T>C (p.Ser380Pro)
|
rs150697112
|
0.00123
|
|
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr)
|
rs145361311
|
0.00123
|
|
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)
|
rs113443891
|
0.00123
|
|
NM_006910.5(RBBP6):c.2355T>C (p.Asn785=)
|
rs141293988
|
0.00123
|
|
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)
|
rs11658164
|
0.00123
|
|
NM_020207.7(ERCC6L2):c.1375G>T (p.Val459Phe)
|
rs146551545
|
0.00123
|
|
NM_021120.4(DLG3):c.429C>T (p.Phe143=)
|
rs144225009
|
0.00123
|
|
NM_030665.4(RAI1):c.840G>A (p.Gln280=)
|
rs398124421
|
0.00123
|
|
NM_030973.4(MED25):c.1675-7C>T
|
rs79635160
|
0.00123
|
|
NM_032122.5(DTNBP1):c.276A>G (p.Thr92=)
|
rs148092520
|
0.00123
|
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
|
NM_198994.3(TGM6):c.956G>A (p.Arg319Gln)
|
rs148376598
|
0.00123
|
|
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)
|
rs45466399
|
0.00122
|
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
|
NM_001904.4(CTNNB1):c.486C>T (p.Asp162=)
|
rs5743392
|
0.00122
|
|
NM_003179.3(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570
|
0.00122
|
|
NM_005068.3(SIM1):c.383T>C (p.Ile128Thr)
|
rs138546433
|
0.00122
|
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
|
NM_006517.3(SLC16A2):c.1A>T (p.Met1Leu)
|
rs201853949
|
0.00122
|
|
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)
|
rs146799286
|
0.00122
|
|
NM_014915.3(ANKRD26):c.4145T>A (p.Phe1382Tyr)
|
rs78251061
|
0.00122
|
|
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
|
NM_000534.5(PMS1):c.2283T>C (p.Leu761=)
|
rs150341545
|
0.00121
|
|
NM_001145306.2(CDK6):c.546G>A (p.Thr182=)
|
rs150126273
|
0.00121
|
|
NM_001291303.3(FAT4):c.12479+8G>A
|
rs150505878
|
0.00121
|
|
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)
|
rs147831309
|
0.00121
|
|
NM_003355.3(UCP2):c.169G>A (p.Ala57Thr)
|
rs145662569
|
0.00121
|
|
NM_004278.4(PIGL):c.526+10G>A
|
rs138410893
|
0.00121
|
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
|
NM_012452.3(TNFRSF13B):c.415T>C (p.Leu139=)
|
rs141494621
|
0.00121
|
|
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys)
|
rs202081612
|
0.00121
|
|
NM_014423.4(AFF4):c.1530C>T (p.Gly510=)
|
rs139523666
|
0.00121
|
|
NM_017838.4(NHP2):c.270A>G (p.Val90=)
|
rs148179279
|
0.00121
|
|
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala)
|
rs149803148
|
0.00121
|
|
NM_018451.5(CENPJ):c.1960G>A (p.Ala654Thr)
|
rs140927921
|
0.00121
|
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00121
|
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
|
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)
|
rs5214
|
0.00120
|
|
NM_001184.4(ATR):c.992A>G (p.Asp331Gly)
|
rs150008448
|
0.00120
|
|
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=)
|
rs145877279
|
0.00120
|
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
|
NM_020987.5(ANK3):c.2200C>T (p.Leu734=)
|
rs144696256
|
0.00120
|
|
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=)
|
rs142858644
|
0.00120
|
|
NM_000352.4(ABCC8):c.-215G>C
|
rs546148657
|
0.00119
|
|
NM_001010898.4(SLC6A17):c.286+10A>G
|
rs187996451
|
0.00119
|
|
NM_001110792.2(MECP2):c.246C>T (p.Ser82=)
|
rs61754439
|
0.00119
|
|
NM_001164508.2(NEB):c.12C>T (p.Asp4=)
|
rs117178114
|
0.00119
|
|
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu)
|
rs141783863
|
0.00119
|
|
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His)
|
rs143935839
|
0.00119
|
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
|
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe)
|
rs35346077
|
0.00119
|
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
|
NM_032531.4(KIRREL3):c.116T>A (p.Phe39Tyr)
|
rs201204758
|
0.00119
|
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
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_001349338.3(FOXP1):c.643C>G (p.Pro215Ala)
|
rs146606219
|
0.00118
|
|
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
|
rs143713841
|
0.00118
|
|
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)
|
rs144641429
|
0.00118
|
|
NM_014467.3(SRPX2):c.840G>A (p.Ala280=)
|
rs139377205
|
0.00118
|
|
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)
|
rs200042949
|
0.00118
|
|
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)
|
rs147577332
|
0.00118
|
|
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=)
|
rs147160053
|
0.00118
|
|
NM_020207.7(ERCC6L2):c.4090A>C (p.Thr1364Pro)
|
rs147269000
|
0.00118
|
|
NM_020921.4(NIN):c.612G>A (p.Arg204=)
|
rs150057118
|
0.00118
|
|
NM_020937.4(FANCM):c.4147T>G (p.Tyr1383Asp)
|
rs144104545
|
0.00118
|
|
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter)
|
rs147714487
|
0.00118
|
|
NM_139027.6(ADAMTS13):c.2384C>T (p.Ala795Val)
|
rs201607490
|
0.00118
|
|
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys)
|
rs150393340
|
0.00118
|
|
NM_198253.3(TERT):c.2769G>A (p.Pro923=)
|
rs200174990
|
0.00118
|
|
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=)
|
rs148465219
|
0.00118
|
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
|
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)
|
rs147366495
|
0.00117
|
|
NM_001010898.4(SLC6A17):c.1174G>A (p.Val392Ile)
|
rs114452357
|
0.00117
|
|
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
0.00117
|
|
NM_001715.3(BLK):c.974A>C (p.Lys325Thr)
|
rs77401687
|
0.00117
|
|
NM_003184.4(TAF2):c.157A>G (p.Ile53Val)
|
rs112002462
|
0.00117
|
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
|
NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile)
|
rs142285826
|
0.00117
|
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
|
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
|
rs149506027
|
0.00117
|
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
|
NM_000135.4(FANCA):c.115A>C (p.Arg39=)
|
rs17232091
|
0.00116
|
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
|
NM_000426.4(LAMA2):c.255C>T (p.Ile85=)
|
rs142083777
|
0.00116
|
|
NM_000552.5(VWF):c.8289C>T (p.Asp2763=)
|
rs149309674
|
0.00116
|
|
NM_001042681.2(RERE):c.3588A>G (p.Arg1196=)
|
rs149634880
|
0.00116
|
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
|
NM_004260.4(RECQL4):c.1398G>A (p.Pro466=)
|
rs145615931
|
0.00116
|
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
|
NM_020987.5(ANK3):c.11825A>G (p.Lys3942Arg)
|
rs148549519
|
0.00116
|
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
|
NM_000268.4(NF2):c.12C>T (p.Ala4=)
|
rs144477078
|
0.00115
|
|
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)
|
rs145386421
|
0.00115
|
|
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=)
|
rs150380620
|
0.00115
|
|
NM_000545.6(HNF1A):c.-527C>T
|
rs3809315
|
0.00115
|
|
NM_000760.4(CSF3R):c.1856T>C (p.Leu619Ser)
|
rs141619366
|
0.00115
|
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
|
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=)
|
rs146020786
|
0.00115
|
|
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)
|
rs140526335
|
0.00115
|
|
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu)
|
rs61735813
|
0.00115
|
|
NM_006031.6(PCNT):c.724G>A (p.Val242Met)
|
rs147931950
|
0.00115
|
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
|
NM_016222.4(DDX41):c.1354C>T (p.Leu452=)
|
rs143421709
|
0.00115
|
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
|
NM_018943.3(TUBA8):c.324C>T (p.Tyr108=)
|
rs2234327
|
0.00115
|
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
|
NM_032444.4(SLX4):c.590T>C (p.Val197Ala)
|
rs147826749
|
0.00115
|
|
NM_139276.3(STAT3):c.551-4G>A
|
rs80162032
|
0.00115
|
|
NM_000314.8(PTEN):c.-461G>A
|
rs1209261790
|
0.00114
|
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
|
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)
|
rs61733327
|
0.00114
|
|
NM_002768.5(CHMP1A):c.51G>A (p.Lys17=)
|
rs187184327
|
0.00114
|
|
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg)
|
rs115594989
|
0.00114
|
|
NM_020987.5(ANK3):c.4029G>A (p.Glu1343=)
|
rs116757606
|
0.00114
|
|
NM_025099.6(CTC1):c.147C>T (p.Val49=)
|
rs201492796
|
0.00114
|
|
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)
|
rs142008398
|
0.00114
|
|
NM_000143.4(FH):c.-11C>T
|
rs200942733
|
0.00113
|
|
NM_000207.3(INS):c.188-220C>T
|
rs561372758
|
0.00113
|
|
NM_001083116.3(PRF1):c.528C>T (p.Cys176=)
|
rs138588977
|
0.00113
|
|
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=)
|
rs143941068
|
0.00113
|
|
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_002241.5(KCNJ10):c.812G>A (p.Arg271His)
|
rs3795339
|
0.00113
|
|
NM_003136.4(SRP54):c.636A>C (p.Ile212=)
|
rs140228686
|
0.00113
|
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
|
NM_021971.4(GMPPB):c.1017C>T (p.Asn339=)
|
rs147074020
|
0.00113
|
|
NM_030665.4(RAI1):c.972G>A (p.Pro324=)
|
rs138675466
|
0.00113
|
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
|
NM_182895.5(SCARF2):c.2522C>T (p.Thr841Ile)
|
rs537247534
|
0.00113
|
|
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=)
|
rs111939130
|
0.00113
|
|
NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=)
|
rs2275098
|
0.00112
|
|
NM_002691.4(POLD1):c.2979G>A (p.Thr993=)
|
rs3218774
|
0.00112
|
|
NM_003383.5(VLDLR):c.75C>T (p.Thr25=)
|
rs532555108
|
0.00112
|
|
NM_004056.6(CA8):c.795C>A (p.Gly265=)
|
rs147080672
|
0.00112
|
|
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly)
|
rs140946580
|
0.00112
|
|
NM_014714.4(IFT140):c.-4C>T
|
rs140403660
|
0.00112
|
|
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=)
|
rs150097733
|
0.00112
|
|
NM_000208.4(INSR):c.687C>T (p.Thr229=)
|
rs150568177
|
0.00111
|
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
|
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=)
|
rs140330609
|
0.00111
|
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
|
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys)
|
rs146081967
|
0.00111
|
|
NM_173630.4(RTTN):c.885A>G (p.Ala295=)
|
rs148445363
|
0.00111
|
|
NM_000044.6(AR):c.1424C>T (p.Ala475Val)
|
rs200390780
|
0.00110
|
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
|
NM_000552.5(VWF):c.6756G>A (p.Glu2252=)
|
rs71581020
|
0.00110
|
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
|
NM_002582.4(PARN):c.1761C>T (p.Ser587=)
|
rs148052946
|
0.00110
|
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
|
NM_007059.4(KPTN):c.188G>A (p.Arg63Gln)
|
rs142867197
|
0.00110
|
|
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His)
|
rs61740738
|
0.00110
|
|
NM_015634.4(KIFBP):c.1326A>G (p.Arg442=)
|
rs143815412
|
0.00110
|
|
NM_018062.4(FANCL):c.402T>C (p.Ser134=)
|
rs145284589
|
0.00110
|
|
NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=)
|
rs146736925
|
0.00110
|
|
NM_145207.3(AFG2A):c.1131G>A (p.Glu377=)
|
rs139089747
|
0.00110
|
|
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655
|
0.00110
|
|
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
|
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)
|
rs11571652
|
0.00109
|
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
|
NM_000162.5(GCK):c.660C>T (p.Cys220=)
|
rs142952813
|
0.00109
|
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
|
NM_000552.5(VWF):c.2586G>T (p.Val862=)
|
rs34510401
|
0.00109
|
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
|
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln)
|
rs141727765
|
0.00109
|
|
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)
|
rs56402642
|
0.00109
|
|
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)
|
rs55923848
|
0.00109
|
|
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met)
|
rs34737149
|
0.00109
|
|
NM_002025.4(AFF2):c.1788C>A (p.Ala596=)
|
rs149492076
|
0.00109
|
|
NM_002049.4(GATA1):c.201G>A (p.Glu67=)
|
rs61753429
|
0.00109
|
|
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val)
|
rs140987045
|
0.00109
|
|
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu)
|
rs148817957
|
0.00109
|
|
NM_015080.4(NRXN2):c.598G>A (p.Ala200Thr)
|
rs797045803
|
0.00109
|
|
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)
|
rs150327858
|
0.00109
|
|
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)
|
rs188762916
|
0.00109
|
|
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00109
|
|
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)
|
rs200990647
|
0.00109
|
|
NM_173551.5(ANKS6):c.1533A>C (p.Ala511=)
|
rs200743968
|
0.00109
|
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00108
|
|
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)
|
rs202106192
|
0.00108
|
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
|
NM_000545.8(HNF1A):c.-29G>A
|
rs376961226
|
0.00108
|
|
NM_001022.4(RPS19):c.60C>G (p.Ala20=)
|
rs149249194
|
0.00108
|
|
NM_001077446.4(TSEN34):c.581C>T (p.Pro194Leu)
|
rs200626822
|
0.00108
|
|
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)
|
rs61752387
|
0.00108
|
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
|
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)
|
rs143550996
|
0.00108
|
|
NM_001393392.1(AKR1C2):c.211G>C (p.Asp71His)
|
rs142672563
|
0.00108
|
|
NM_002067.5(GNA11):c.189C>T (p.His63=)
|
rs61731116
|
0.00108
|
|
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=)
|
rs138404604
|
0.00108
|
|
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)
|
rs35339834
|
0.00108
|
|
NM_006031.6(PCNT):c.7180-8C>T
|
rs143511166
|
0.00108
|
|
NM_006947.4(SRP72):c.2004A>G (p.Lys668=)
|
rs148068843
|
0.00108
|
|
NM_014630.3(ZNF592):c.1618C>T (p.Leu540=)
|
rs143880466
|
0.00108
|
|
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3])
|
rs755038966
|
0.00108
|
|
NM_017841.4(SDHAF2):c.260+12G>A
|
rs371469299
|
0.00108
|
|
NM_020975.6(RET):c.1197G>A (p.Pro399=)
|
rs148371113
|
0.00108
|
|
NM_022455.5(NSD1):c.339C>T (p.Cys113=)
|
rs77093936
|
0.00108
|
|
NM_031407.7(HUWE1):c.1953C>G (p.Pro651=)
|
rs139152809
|
0.00108
|
|
NM_138501.6(TECR):c.873G>A (p.Lys291=)
|
rs147656694
|
0.00108
|
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
|
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)
|
rs61743881
|
0.00107
|
|
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)
|
rs35090700
|
0.00107
|
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
|
NM_001282531.3(ADNP):c.2943G>T (p.Val981=)
|
rs143103063
|
0.00107
|
|
NM_001374828.1(ARID1B):c.963C>T (p.Ala321=)
|
rs533517668
|
0.00107
|
|
NM_001614.5(ACTG1):c.72C>T (p.Asp24=)
|
rs139517777
|
0.00107
|
|
NM_002582.4(PARN):c.1782C>T (p.Thr594=)
|
rs187555579
|
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_005236.3(ERCC4):c.325G>A (p.Ala109Thr)
|
rs148791570
|
0.00107
|
|
NM_006180.6(NTRK2):c.2478G>A (p.Leu826=)
|
rs138503321
|
0.00107
|
|
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile)
|
rs146772848
|
0.00107
|
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
|
NM_007294.4(BRCA1):c.765G>A (p.Glu255=)
|
rs62625299
|
0.00107
|
|
NM_020461.4(TUBGCP6):c.1452G>A (p.Pro484=)
|
rs114942206
|
0.00107
|
|
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)
|
rs114725374
|
0.00107
|
|
NM_025009.5(CEP135):c.64C>T (p.Arg22Cys)
|
rs150681316
|
0.00107
|
|
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)
|
rs372349042
|
0.00107
|
|
NM_144508.5(KNL1):c.2311G>A (p.Val771Ile)
|
rs151288115
|
0.00107
|
|
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)
|
rs376665854
|
0.00107
|
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
|
NM_000081.4(LYST):c.7506A>G (p.Gln2502=)
|
rs140434436
|
0.00106
|
|
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)
|
rs148405563
|
0.00106
|
|
NM_000551.3(VHL):c.-97T>G
|
rs34271731
|
0.00106
|
|
NM_000551.4(VHL):c.-5A>C
|
rs35793832
|
0.00106
|
|
NM_001099274.3(TINF2):c.771C>T (p.His257=)
|
rs75124018
|
0.00106
|
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
|
NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=)
|
rs144894118
|
0.00106
|
|
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=)
|
rs113315760
|
0.00106
|
|
NM_001614.5(ACTG1):c.531T>C (p.Arg177=)
|
rs143851458
|
0.00106
|
|
NM_003619.4(PRSS12):c.821-1G>A
|
rs147303693
|
0.00106
|
|
NM_004036.5(ADCY3):c.327C>T (p.Ala109=)
|
rs147964025
|
0.00106
|
|
NM_006231.4(POLE):c.1323G>A (p.Pro441=)
|
rs116573514
|
0.00106
|
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
|
NM_015450.3(POT1):c.828G>A (p.Arg276=)
|
rs76496261
|
0.00106
|
|
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile)
|
rs150539399
|
0.00106
|
|
NM_020987.5(ANK3):c.3897G>A (p.Thr1299=)
|
rs150367434
|
0.00106
|
|
NM_021969.3(NR0B2):c.339G>A (p.Pro113=)
|
rs143133224
|
0.00106
|
|
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu)
|
rs78977446
|
0.00106
|
|
NM_144508.5(KNL1):c.251-7T>A
|
rs555296963
|
0.00106
|
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
|
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=)
|
rs145203578
|
0.00105
|
|
NM_001184.4(ATR):c.2637C>T (p.Ala879=)
|
rs150512706
|
0.00105
|
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
|
NM_002025.4(AFF2):c.3696A>T (p.Pro1232=)
|
rs35967616
|
0.00105
|
|
NM_002291.3(LAMB1):c.5247C>T (p.Asp1749=)
|
rs139780649
|
0.00105
|
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00105
|
|
NM_006059.4(LAMC3):c.558C>T (p.Arg186=)
|
rs2275135
|
0.00105
|
|
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=)
|
rs55830582
|
0.00105
|
|
NM_018136.5(ASPM):c.-9G>T
|
rs141108591
|
0.00105
|
|
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys)
|
rs148911180
|
0.00105
|
|
NM_020717.5(SHROOM4):c.4066G>A (p.Val1356Ile)
|
rs137923286
|
0.00105
|
|
NM_030665.4(RAI1):c.1279C>T (p.Leu427=)
|
rs34898721
|
0.00105
|
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
|
NM_175875.5(SIX5):c.1873G>A (p.Ala625Thr)
|
rs202187498
|
0.00105
|
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
|
NM_001111077.2(EZR):c.1131G>A (p.Glu377=)
|
rs112461897
|
0.00104
|
|
NM_001184.4(ATR):c.7041+8G>A
|
rs201106004
|
0.00104
|
|
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)
|
rs368682964
|
0.00104
|
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
|
NM_004304.5(ALK):c.4785C>T (p.Ala1595=)
|
rs76150405
|
0.00104
|
|
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)
|
rs201807437
|
0.00104
|
|
NM_012414.4(RAB3GAP2):c.938C>T (p.Thr313Ile)
|
rs74139292
|
0.00104
|
|
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)
|
rs62542664
|
0.00104
|
|
NM_030928.4(CDT1):c.111C>T (p.Leu37=)
|
rs587780304
|
0.00104
|
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
|
NM_001018115.3(FANCD2):c.491+10G>A
|
rs17032279
|
0.00103
|
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00103
|
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
|
NM_003355.3(UCP2):c.115G>A (p.Val39Ile)
|
rs148253207
|
0.00103
|
|
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)
|
rs546554430
|
0.00103
|
|
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)
|
rs145613634
|
0.00103
|
|
NM_007175.8(ERLIN2):c.123G>A (p.Leu41=)
|
rs112575270
|
0.00103
|
|
NM_012309.5(SHANK2):c.4926G>A (p.Pro1642=)
|
rs150021463
|
0.00103
|
|
NM_015080.4(NRXN2):c.2918+6G>A
|
rs144906809
|
0.00103
|
|
NM_015662.3(IFT172):c.3530+7T>C
|
rs150882197
|
0.00103
|
|
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=)
|
rs151142538
|
0.00103
|
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
|
NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg)
|
rs150569450
|
0.00103
|
|
NM_198252.3(GSN):c.1225G>A (p.Val409Met)
|
rs140042418
|
0.00103
|
|
NM_000051.4(ATM):c.2127T>C (p.Ile709=)
|
rs56252953
|
0.00102
|
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
|
NM_000173.7(GP1BA):c.732C>T (p.Tyr244=)
|
rs200381725
|
0.00102
|
|
NM_000352.3(ABCC8):c.-108G>A
|
rs867882011
|
0.00102
|
|
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
|
rs878852992
|
0.00102
|
|
NM_000552.5(VWF):c.2739A>C (p.Gly913=)
|
rs35191786
|
0.00102
|
|
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657
|
0.00102
|
|
NM_001082486.2(ACD):c.132C>T (p.Gly44=)
|
rs138527794
|
0.00102
|
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
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_001366110.1(PAX4):c.868T>C (p.Cys290Arg)
|
rs139309837
|
0.00102
|
|
NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=)
|
rs368824340
|
0.00102
|
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
|
NM_004260.4(RECQL4):c.514C>T (p.Leu172Phe)
|
rs188859497
|
0.00102
|
|
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala)
|
rs143570842
|
0.00102
|
|
NM_012096.3(APPL1):c.1430+9dup
|
rs146206524
|
0.00102
|
|
NM_016222.4(DDX41):c.1470C>T (p.Asp490=)
|
rs151018711
|
0.00102
|
|
NM_018943.3(TUBA8):c.1080G>A (p.Pro360=)
|
rs145407514
|
0.00102
|
|
NM_030665.4(RAI1):c.1524G>A (p.Thr508=)
|
rs141826168
|
0.00102
|
|
NM_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
0.00102
|
|
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)
|
rs147053126
|
0.00102
|
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
|
NM_000162.5(GCK):c.-455A>G
|
rs140894490
|
0.00101
|
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00101
|
|
NM_000489.6(ATRX):c.846C>T (p.Ser282=)
|
rs148015780
|
0.00101
|
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
|
NM_001012339.3(DNAJC21):c.1261C>G (p.Gln421Glu)
|
rs146564466
|
0.00101
|
|
NM_001184.4(ATR):c.4200A>T (p.Leu1400=)
|
rs150562945
|
0.00101
|
|
NM_001197104.2(KMT2A):c.2965C>T (p.Leu989Phe)
|
rs139989306
|
0.00101
|
|
NM_001364905.1(LRBA):c.1713C>T (p.His571=)
|
rs145812385
|
0.00101
|
|
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=)
|
rs151090814
|
0.00101
|
|
NM_001377.3(DYNC2H1):c.3744+9C>T
|
rs142483417
|
0.00101
|
|
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)
|
rs201967064
|
0.00101
|
|
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)
|
rs80232004
|
0.00101
|
|
NM_006279.5(ST3GAL3):c.118+10G>C
|
rs147330005
|
0.00101
|
|
NM_006950.3(SYN1):c.1110C>T (p.Cys370=)
|
rs141925310
|
0.00101
|
|
NM_014467.3(SRPX2):c.481C>A (p.Arg161=)
|
rs150552508
|
0.00101
|
|
NM_014875.3(KIF14):c.2136C>T (p.Asn712=)
|
rs145353826
|
0.00101
|
|
NM_020207.7(ERCC6L2):c.2855G>A (p.Arg952Lys)
|
rs185740878
|
0.00101
|
|
NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val)
|
rs201625904
|
0.00101
|
|
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser)
|
rs35496669
|
0.00101
|
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00101
|
|
NM_033022.4(RPS24):c.-8T>G
|
rs185722293
|
0.00101
|
|
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=)
|
rs148075057
|
0.00101
|
|
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=)
|
rs149003627
|
0.00101
|
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
|
NM_001070.5(TUBG1):c.1318C>T (p.Arg440Trp)
|
rs144903375
|
0.00100
|
|
NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
|
NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=)
|
rs3852522
|
0.00100
|
|
NM_001247997.2(CLIP1):c.7A>G (p.Met3Val)
|
rs140092191
|
0.00100
|
|
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)
|
rs148688181
|
0.00100
|
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
|
NM_020207.7(ERCC6L2):c.2486C>T (p.Thr829Ile)
|
rs188610453
|
0.00100
|
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
|
NM_144639.3(UROC1):c.40C>T (p.Arg14Trp)
|
rs147828466
|
0.00100
|
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
|
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)
|
rs11952056
|
0.00100
|
|
NM_203290.4(POLR1C):c.193A>G (p.Met65Val)
|
rs141471029
|
0.00100
|
|
NM_000383.4(AIRE):c.789C>T (p.Gly263=)
|
rs138066507
|
0.00099
|
|
NM_000463.3(UGT1A1):c.996+15T>C
|
rs4148327
|
0.00099
|
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00099
|
|
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)
|
rs148700620
|
0.00099
|
|
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=)
|
rs201418175
|
0.00099
|
|
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=)
|
rs111674454
|
0.00099
|
|
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met)
|
rs56132571
|
0.00099
|
|
NM_001543.5(NDST1):c.144G>A (p.Ser48=)
|
rs144715747
|
0.00099
|
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00099
|
|
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
|
rs138514054
|
0.00099
|
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
|
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp)
|
rs138647604
|
0.00098
|
|
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)
|
rs139438549
|
0.00098
|
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
|
NM_001256545.2(MEGF10):c.3026-8C>T
|
rs185480820
|
0.00098
|
|
NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln)
|
rs140662460
|
0.00098
|
|
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=)
|
rs202078917
|
0.00098
|
|
NM_004714.3(DYRK1B):c.1732C>T (p.Pro578Ser)
|
rs144803038
|
0.00098
|
|
NM_004933.3(CDH15):c.598G>A (p.Glu200Lys)
|
rs141084668
|
0.00098
|
|
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)
|
rs362800
|
0.00098
|
|
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
|
rs79161241
|
0.00098
|
|
NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=)
|
rs147534008
|
0.00098
|
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
|
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg)
|
rs554325914
|
0.00098
|
|
NM_018993.4(RIN2):c.1004C>G (p.Pro335Arg)
|
rs200780805
|
0.00098
|
|
NM_021922.3(FANCE):c.696G>A (p.Glu232=)
|
rs147356927
|
0.00098
|
|
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=)
|
rs199921300
|
0.00098
|
|
NM_144508.5(KNL1):c.3999C>T (p.Cys1333=)
|
rs373793762
|
0.00098
|
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
|
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=)
|
rs371450118
|
0.00097
|
|
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val)
|
rs148727077
|
0.00097
|
|
NM_001161352.2(KCNMA1):c.2015+7G>A
|
rs78670694
|
0.00097
|
|
NM_001171613.2(PREPL):c.1479+8C>T
|
rs202009058
|
0.00097
|
|
NM_001254.4(CDC6):c.165C>T (p.Pro55=)
|
rs142289528
|
0.00097
|
|
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=)
|
rs142247083
|
0.00097
|
|
NM_001318510.2(ACSL4):c.806+3A>G
|
rs183171123
|
0.00097
|
|
NM_002582.4(PARN):c.1263-8T>G
|
rs182460499
|
0.00097
|
|
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)
|
rs139337049
|
0.00097
|
|
NM_015175.3(NBEAL2):c.6267C>G (p.Thr2089=)
|
rs111945488
|
0.00097
|
|
NM_018993.4(RIN2):c.1045C>T (p.Pro349Ser)
|
rs201486809
|
0.00097
|
|
NM_020921.4(NIN):c.5996G>A (p.Arg1999His)
|
rs141405524
|
0.00097
|
|
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)
|
rs142872154
|
0.00097
|
|
NM_000032.5(ALAS2):c.1647T>C (p.Asp549=)
|
rs35075981
|
0.00096
|
|
NM_000038.6(APC):c.2262T>G (p.Val754=)
|
rs148987776
|
0.00096
|
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
|
NM_000059.4(BRCA2):c.6937+594T>G
|
rs191253965
|
0.00096
|
|
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=)
|
rs34490141
|
0.00096
|
|
NM_000372.5(TYR):c.665T>C (p.Ile222Thr)
|
rs34878847
|
0.00096
|
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
|
NM_001080517.3(SETD5):c.2544T>G (p.Leu848=)
|
rs147128913
|
0.00096
|
|
NM_001083961.2(WDR62):c.2211-4G>A
|
rs202109439
|
0.00096
|
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
|
NM_001145358.2(SIN3A):c.942C>T (p.Ile314=)
|
rs147885320
|
0.00096
|
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
|
NM_001194998.2(CEP152):c.*5G>A
|
rs74012133
|
0.00096
|
|
NM_001291867.2(NHS):c.828G>A (p.Glu276=)
|
rs147497359
|
0.00096
|
|
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=)
|
rs143495349
|
0.00096
|
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
|
NM_002470.4(MYH3):c.2883C>A (p.Thr961=)
|
rs144338240
|
0.00096
|
|
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=)
|
rs3729753
|
0.00096
|
|
NM_006009.4(TUBA1A):c.786T>C (p.Tyr262=)
|
rs762008241
|
0.00096
|
|
NM_006031.6(PCNT):c.7833C>T (p.Ser2611=)
|
rs139227909
|
0.00096
|
|
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00096
|
|
NM_016038.4(SBDS):c.127G>T (p.Val43Leu)
|
rs147652512
|
0.00096
|
|
NM_017654.4(SAMD9):c.2556C>T (p.Ala852=)
|
rs150188038
|
0.00096
|
|
NM_020921.4(NIN):c.4937G>A (p.Arg1646His)
|
rs149669464
|
0.00096
|
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
|
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)
|
rs146492238
|
0.00096
|
|
NM_173630.4(RTTN):c.805T>C (p.Phe269Leu)
|
rs141156594
|
0.00096
|
|
NM_173689.7(CRB2):c.737G>A (p.Arg246His)
|
rs150339335
|
0.00096
|
|
NM_000479.5(AMH):c.991T>C (p.Ser331Pro)
|
rs556078854
|
0.00095
|
|
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)
|
rs147135554
|
0.00095
|
|
NM_001368397.1(FRMPD4):c.388G>A (p.Ala130Thr)
|
rs139449383
|
0.00095
|
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
|
NM_012156.2(EPB41L1):c.111C>T (p.His37=)
|
rs140731421
|
0.00095
|
|
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)
|
rs41299625
|
0.00095
|
|
NM_020717.5(SHROOM4):c.1053C>A (p.Ser351Arg)
|
rs59595864
|
0.00095
|
|
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)
|
rs142126065
|
0.00095
|
|
NM_031407.7(HUWE1):c.4503C>T (p.Pro1501=)
|
rs144449744
|
0.00095
|
|
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)
|
rs140100861
|
0.00095
|
|
NM_207361.6(FREM2):c.2367G>A (p.Pro789=)
|
rs140101984
|
0.00095
|
|
NM_000548.5(TSC2):c.5161-9C>T
|
rs45515893
|
0.00094
|
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
|
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)
|
rs55892928
|
0.00094
|
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
|
NM_001813.3(CENPE):c.6203G>C (p.Arg2068Thr)
|
rs148969710
|
0.00094
|
|
NM_003355.3(UCP2):c.156C>T (p.Arg52=)
|
rs45524433
|
0.00094
|
|
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr)
|
rs886042833
|
0.00094
|
|
NM_020831.6(MRTFA):c.1077C>T (p.Tyr359=)
|
rs56325101
|
0.00094
|
|
NM_030928.4(CDT1):c.*9G>A
|
rs371269045
|
0.00094
|
|
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)
|
rs148709148
|
0.00093
|
|
NM_001012339.3(DNAJC21):c.656C>T (p.Ala219Val)
|
rs144046917
|
0.00093
|
|
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=)
|
rs188138322
|
0.00093
|
|
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile)
|
rs190072721
|
0.00093
|
|
NM_001543.5(NDST1):c.2271C>T (p.Tyr757=)
|
rs146085225
|
0.00093
|
|
NM_001543.5(NDST1):c.2577C>T (p.Leu859=)
|
rs140123575
|
0.00093
|
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
|
NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
|
NM_003597.5(KLF11):c.486A>G (p.Pro162=)
|
rs146462049
|
0.00093
|
|
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln)
|
rs55968949
|
0.00093
|
|
NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile)
|
rs191015656
|
0.00093
|
|
NM_015080.4(NRXN2):c.1090G>A (p.Val364Ile)
|
rs146308270
|
0.00093
|
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
|
NM_017721.5(CC2D1A):c.2125+18G>A
|
rs201665826
|
0.00093
|
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00093
|
|
NM_024101.7(MLPH):c.1416G>A (p.Thr472=)
|
rs139181999
|
0.00093
|
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
|
NM_000208.4(INSR):c.190T>C (p.Leu64=)
|
rs144836032
|
0.00092
|
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
|
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)
|
rs143826762
|
0.00092
|
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
|
NM_006420.3(ARFGEF2):c.2686-9C>T
|
rs200945599
|
0.00092
|
|
NM_007059.4(KPTN):c.761T>C (p.Ile254Thr)
|
rs200513352
|
0.00092
|
|
NM_012233.3(RAB3GAP1):c.2904T>C (p.Phe968=)
|
rs146045827
|
0.00092
|
|
NM_015559.3(SETBP1):c.4290G>A (p.Val1430=)
|
rs139896661
|
0.00092
|
|
NM_018013.4(SOBP):c.1416C>A (p.Pro472=)
|
rs369211430
|
0.00092
|
|
NM_032444.4(SLX4):c.2047G>A (p.Ala683Thr)
|
rs115866745
|
0.00092
|
|
NM_138387.4(G6PC3):c.189C>T (p.Ile63=)
|
rs144594971
|
0.00092
|
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
|
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr)
|
rs12718465
|
0.00091
|
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
|
NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln)
|
rs5917
|
0.00091
|
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
|
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser)
|
rs149359927
|
0.00091
|
|
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=)
|
rs182887940
|
0.00091
|
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
|
NM_005236.3(ERCC4):c.974-6T>C
|
rs201181735
|
0.00091
|
|
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr)
|
rs151176879
|
0.00091
|
|
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
|
rs3027884
|
0.00091
|
|
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)
|
rs201404751
|
0.00091
|
|
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)
|
rs200164926
|
0.00091
|
|
NM_007259.5(VPS45):c.318C>T (p.Asp106=)
|
rs150076399
|
0.00091
|
|
NM_007325.5(GRIA3):c.159T>C (p.Phe53=)
|
rs145583732
|
0.00091
|
|
NM_012280.4(FTSJ1):c.*8C>T
|
rs201095751
|
0.00091
|
|
NM_014875.3(KIF14):c.262T>C (p.Leu88=)
|
rs139388122
|
0.00091
|
|
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser)
|
rs146087534
|
0.00091
|
|
NM_020066.5(FMN2):c.1896C>T (p.Pro632=)
|
rs141897898
|
0.00091
|
|
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
0.00091
|
|
NM_032415.7(CARD11):c.180G>T (p.Val60=)
|
rs117016854
|
0.00091
|
|
NM_032833.5(PPP1R15B):c.1407A>T (p.Glu469Asp)
|
rs141538150
|
0.00091
|
|
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu)
|
rs148939095
|
0.00091
|
|
NM_139276.3(STAT3):c.1329C>T (p.Thr443=)
|
rs147955721
|
0.00091
|
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
|
NM_152703.5(SAMD9L):c.3567T>C (p.Tyr1189=)
|
rs139124790
|
0.00091
|
|
NM_177550.5(SLC13A5):c.231+6C>A
|
rs138834680
|
0.00091
|
|
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro)
|
rs111902869
|
0.00091
|
|
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)
|
rs142928725
|
0.00090
|
|
NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys)
|
rs143333246
|
0.00090
|
|
NM_001080510.5(METTL23):c.255T>G (p.Ser85=)
|
rs370380855
|
0.00090
|
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
|
NM_006015.6(ARID1A):c.3716-7C>T
|
rs150792057
|
0.00090
|
|
NM_017654.4(SAMD9):c.2686T>C (p.Tyr896His)
|
rs142611434
|
0.00090
|
|
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val)
|
rs143355299
|
0.00090
|
|
NM_213622.4(STAMBP):c.764G>A (p.Arg255His)
|
rs146601260
|
0.00090
|
|
NM_000135.4(FANCA):c.237C>T (p.Asp79=)
|
rs144151341
|
0.00089
|
|
NM_000174.5(GP9):c.368C>T (p.Pro123Leu)
|
rs202229101
|
0.00089
|
|
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=)
|
rs145061390
|
0.00089
|
|
NM_000553.6(WRN):c.3900C>A (p.Pro1300=)
|
rs138886038
|
0.00089
|
|
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr)
|
rs142999683
|
0.00089
|
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
|
NM_001160372.4(TRAPPC9):c.159C>T (p.Leu53=)
|
rs112997540
|
0.00089
|
|
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)
|
rs147127279
|
0.00089
|
|
NM_001382347.1(MYO5A):c.696T>C (p.Tyr232=)
|
rs148997257
|
0.00089
|
|
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=)
|
rs55845713
|
0.00089
|
|
NM_015107.3(PHF8):c.2131G>A (p.Glu711Lys)
|
rs41306749
|
0.00089
|
|
NM_024596.5(MCPH1):c.1951G>A (p.Val651Ile)
|
rs138218829
|
0.00089
|
|
NM_139276.3(STAT3):c.1854C>T (p.Gly618=)
|
rs117691970
|
0.00089
|
|
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys)
|
rs3746366
|
0.00089
|
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
|
NM_000208.4(INSR):c.2793G>A (p.Ala931=)
|
rs111502197
|
0.00088
|
|
NM_000276.4(OCRL):c.40-5C>T
|
rs201211377
|
0.00088
|
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
|
NM_001349338.3(FOXP1):c.1413A>G (p.Ala471=)
|
rs144080925
|
0.00088
|
|
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg)
|
rs563818052
|
0.00088
|
|
NM_001987.5(ETV6):c.1152+5A>G
|
rs201196326
|
0.00088
|
|
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser)
|
rs150996735
|
0.00088
|
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
|
NM_005198.5(CHKB):c.670A>C (p.Asn224His)
|
rs149858290
|
0.00088
|
|
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser)
|
rs567246585
|
0.00088
|
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
|
NM_015922.3(NSDHL):c.267+7G>A
|
rs184536370
|
0.00088
|
|
NM_020822.3(KCNT1):c.1134C>T (p.Val378=)
|
rs149960236
|
0.00088
|
|
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)
|
rs369983077
|
0.00088
|
|
NM_020822.3(KCNT1):c.3157-8C>T
|
rs371874401
|
0.00088
|
|
NM_020921.4(NIN):c.3487G>C (p.Val1163Leu)
|
rs139059875
|
0.00088
|
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
|
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=)
|
rs79869130
|
0.00088
|
|
NM_032415.7(CARD11):c.2060C>T (p.Ala687Val)
|
rs41493047
|
0.00088
|
|
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp)
|
rs146818399
|
0.00088
|
|
NM_144508.5(KNL1):c.5522G>A (p.Arg1841His)
|
rs201880719
|
0.00088
|
|
NM_181523.3(PIK3R1):c.427+5C>A
|
rs375394677
|
0.00088
|
|
NM_198253.3(TERT):c.1884C>T (p.Asp628=)
|
rs143992655
|
0.00088
|
|
NM_198428.3(BBS9):c.2646C>A (p.Leu882=)
|
rs61753527
|
0.00088
|
|
NM_000208.4(INSR):c.959C>T (p.Thr320Met)
|
rs138528064
|
0.00087
|
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
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_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)
|
rs149322865
|
0.00087
|
|
NM_020831.6(MRTFA):c.714G>A (p.Pro238=)
|
rs150826874
|
0.00087
|
|
NM_020987.5(ANK3):c.10761G>A (p.Thr3587=)
|
rs138986388
|
0.00087
|
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
|
NM_032833.5(PPP1R15B):c.156C>T (p.Ser52=)
|
rs147611819
|
0.00087
|
|
NM_178138.6(LHX3):c.79+1902C>T
|
rs375579333
|
0.00087
|
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
|
NM_000081.4(LYST):c.2769A>C (p.Ser923=)
|
rs112739986
|
0.00086
|
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
|
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)
|
rs146462599
|
0.00086
|
|
NM_001042413.2(GLIS3):c.1044C>T (p.Tyr348=)
|
rs146238548
|
0.00086
|
|
NM_001042413.2(GLIS3):c.2340G>A (p.Arg780=)
|
rs147473975
|
0.00086
|
|
NM_001042413.2(GLIS3):c.61A>G (p.Arg21Gly)
|
rs199527360
|
0.00086
|
|
NM_001134673.4(NFIA):c.*42C>T
|
rs114023473
|
0.00086
|
|
NM_001197104.2(KMT2A):c.6009C>T (p.Asp2003=)
|
rs77421119
|
0.00086
|
|
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=)
|
rs12625047
|
0.00086
|
|
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=)
|
rs368176460
|
0.00086
|
|
NM_001291867.2(NHS):c.4832G>C (p.Ser1611Thr)
|
rs140651691
|
0.00086
|
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00086
|
|
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)
|
rs35288908
|
0.00086
|
|
NM_002519.3(NPAT):c.*348A>T
|
rs942472227
|
0.00086
|
|
NM_004408.4(DNM1):c.747C>T (p.Thr249=)
|
rs141651183
|
0.00086
|
|
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=)
|
rs56120877
|
0.00086
|
|
NM_005105.5(RBM8A):c.318C>T (p.Leu106=)
|
rs139097271
|
0.00086
|
|
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=)
|
rs144869229
|
0.00086
|
|
NM_012210.4(TRIM32):c.6T>G (p.Ala2=)
|
rs141352486
|
0.00086
|
|
NM_013336.4(SEC61A1):c.784C>A (p.Arg262=)
|
rs144643278
|
0.00086
|
|
NM_014915.3(ANKRD26):c.1806G>A (p.Glu602=)
|
rs187923892
|
0.00086
|
|
NM_015080.4(NRXN2):c.3757+9C>T
|
rs376552947
|
0.00086
|
|
NM_018013.4(SOBP):c.1810C>A (p.Gln604Lys)
|
rs368271940
|
0.00086
|
|
NM_020461.4(TUBGCP6):c.3300T>C (p.Thr1100=)
|
rs778386409
|
0.00086
|
|
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
|
NM_022081.6(HPS4):c.888C>T (p.Asn296=)
|
rs138343171
|
0.00086
|
|
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe)
|
rs115722008
|
0.00086
|
|
NM_030928.4(CDT1):c.758G>A (p.Arg253His)
|
rs148337159
|
0.00086
|
|
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)
|
rs143113298
|
0.00086
|
|
NM_152416.4(NDUFAF6):c.738T>C (p.Phe246=)
|
rs202047755
|
0.00086
|
|
NM_201384.3(PLEC):c.6456G>A (p.Ala2152=)
|
rs201072292
|
0.00086
|
|
NM_000208.4(INSR):c.2970G>A (p.Pro990=)
|
rs41304772
|
0.00085
|
|
NM_001048166.1(STIL):c.2906A>G (p.His969Arg)
|
rs148193936
|
0.00085
|
|
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=)
|
rs112837367
|
0.00085
|
|
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys)
|
rs140562514
|
0.00085
|
|
NM_003977.4(AIP):c.301G>A (p.Val101Met)
|
rs147931650
|
0.00085
|
|
NM_005026.5(PIK3CD):c.1815C>T (p.Asp605=)
|
rs115808092
|
0.00085
|
|
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val)
|
rs201139850
|
0.00085
|
|
NM_006947.4(SRP72):c.1170T>C (p.Ser390=)
|
rs143262707
|
0.00085
|
|
NM_014915.3(ANKRD26):c.1451T>C (p.Val484Ala)
|
rs201461870
|
0.00085
|
|
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His)
|
rs145477274
|
0.00085
|
|
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)
|
rs146054214
|
0.00085
|
|
NM_153240.5(NPHP3):c.105G>A (p.Lys35=)
|
rs377060857
|
0.00085
|
|
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=)
|
rs144880376
|
0.00085
|
|
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)
|
rs79137415
|
0.00084
|
|
NM_001134665.3(TRMT10A):c.955C>A (p.Pro319Thr)
|
rs143207059
|
0.00084
|
|
NM_001367721.1(CASK):c.1077G>A (p.Ala359=)
|
rs145641295
|
0.00084
|
|
NM_004525.3(LRP2):c.987G>A (p.Ala329=)
|
rs141751667
|
0.00084
|
|
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr)
|
rs79377093
|
0.00084
|
|
NM_006059.4(LAMC3):c.2276G>A (p.Gly759Asp)
|
rs150859618
|
0.00084
|
|
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)
|
rs146673563
|
0.00084
|
|
NM_016734.3(PAX5):c.954C>T (p.His318=)
|
rs144574685
|
0.00084
|
|
NM_017757.3(ZNF407):c.6077A>G (p.Gln2026Arg)
|
rs202203566
|
0.00084
|
|
NM_020066.5(FMN2):c.1653G>A (p.Glu551=)
|
rs149514160
|
0.00084
|
|
NM_020461.4(TUBGCP6):c.2574G>C (p.Trp858Cys)
|
rs147989796
|
0.00084
|
|
NM_175914.5(HNF4A):c.84G>A (p.Ala28=)
|
rs41282026
|
0.00084
|
|
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)
|
rs567650961
|
0.00084
|
|
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu)
|
rs189860274
|
0.00084
|
|
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu)
|
rs139804851
|
0.00084
|
|
NM_000043.6(FAS):c.103T>C (p.Leu35=)
|
rs9333296
|
0.00083
|
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
|
NM_000545.6(HNF1A):c.-567G>A
|
rs919294498
|
0.00083
|
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
|
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)
|
rs147955381
|
0.00083
|
|
NM_001111077.2(EZR):c.795T>G (p.Pro265=)
|
rs147363431
|
0.00083
|
|
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)
|
rs145349375
|
0.00083
|
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
|
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=)
|
rs200182626
|
0.00083
|
|
NM_002691.4(POLD1):c.612C>T (p.His204=)
|
rs147881471
|
0.00083
|
|
NM_002894.3(RBBP8):c.109+6A>G
|
rs149189755
|
0.00083
|
|
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn)
|
rs61736899
|
0.00083
|
|
NM_003482.4(KMT2D):c.10045A>G (p.Met3349Val)
|
rs80149580
|
0.00083
|
|
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr)
|
rs114670807
|
0.00083
|
|
NM_004714.3(DYRK1B):c.*9C>G
|
rs370237703
|
0.00083
|
|
NM_004840.3(ARHGEF6):c.1764G>A (p.Pro588=)
|
rs145081421
|
0.00083
|
|
NM_006005.3(WFS1):c.966C>T (p.His322=)
|
rs140196582
|
0.00083
|
|
NM_006086.4(TUBB3):c.921C>T (p.His307=)
|
rs147283850
|
0.00083
|
|
NM_014317.5(PDSS1):c.411A>G (p.Arg137=)
|
rs114640034
|
0.00083
|
|
NM_015662.3(IFT172):c.402+8A>C
|
rs184565714
|
0.00083
|
|
NM_016219.5(MAN1B1):c.1095C>T (p.Ala365=)
|
rs144304981
|
0.00083
|
|
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)
|
rs200461412
|
0.00083
|
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
|
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp)
|
rs34875116
|
0.00083
|
|
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)
|
rs139382267
|
0.00083
|
|
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu)
|
rs45600543
|
0.00083
|
|
NM_022095.4(ZNF335):c.1646+5G>T
|
rs149232277
|
0.00083
|
|
NM_025099.6(CTC1):c.1728G>A (p.Pro576=)
|
rs78320653
|
0.00083
|
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
|
NM_139318.5(KCNH5):c.351A>G (p.Glu117=)
|
rs116027402
|
0.00083
|
|
NM_144508.5(KNL1):c.1970C>T (p.Pro657Leu)
|
rs199767066
|
0.00083
|
|
NM_198253.3(TERT):c.1849C>T (p.Leu617=)
|
rs140951453
|
0.00083
|
|
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=)
|
rs147497014
|
0.00082
|
|
NM_001184.4(ATR):c.195C>T (p.Ser65=)
|
rs139304565
|
0.00082
|
|
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu)
|
rs199543866
|
0.00082
|
|
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)
|
rs1800068
|
0.00082
|
|
NM_005886.3(KATNB1):c.654G>A (p.Leu218=)
|
rs188281175
|
0.00082
|
|
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=)
|
rs150153477
|
0.00082
|
|
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr)
|
rs75741316
|
0.00082
|
|
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile)
|
rs113536228
|
0.00082
|
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
|
NM_000214.3(JAG1):c.439+10G>A
|
rs201371037
|
0.00081
|
|
NM_000545.8(HNF1A):c.1107+9C>G
|
rs17847497
|
0.00081
|
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
|
NM_000702.4(ATP1A2):c.2563+4C>T
|
rs3747626
|
0.00081
|
|
NM_001032221.6(STXBP1):c.1702+10C>T
|
rs147607230
|
0.00081
|
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
|
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)
|
rs61753012
|
0.00081
|
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
|
NM_001134665.3(TRMT10A):c.665C>T (p.Ala222Val)
|
rs140905333
|
0.00081
|
|
NM_001194998.2(CEP152):c.832+12G>A
|
rs111917814
|
0.00081
|
|
NM_001291867.2(NHS):c.4168G>A (p.Asp1390Asn)
|
rs142186771
|
0.00081
|
|
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)
|
rs71428908
|
0.00081
|
|
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys)
|
rs201483867
|
0.00081
|
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
|
NM_002500.5(NEUROD1):c.610C>T (p.Pro204Ser)
|
rs142123958
|
0.00081
|
|
NM_003356.4(UCP3):c.155C>T (p.Thr52Met)
|
rs17848367
|
0.00081
|
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
|
NM_005357.4(LIPE):c.1113C>T (p.Asn371=)
|
rs34623222
|
0.00081
|
|
NM_006420.3(ARFGEF2):c.1398T>C (p.Phe466=)
|
rs141596938
|
0.00081
|
|
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)
|
rs2236574
|
0.00081
|
|
NM_007259.5(VPS45):c.290-10T>C
|
rs192850081
|
0.00081
|
|
NM_014953.5(DIS3):c.1503+7A>G
|
rs141627582
|
0.00081
|
|
NM_018341.3(ERMARD):c.241C>T (p.His81Tyr)
|
rs137971039
|
0.00081
|
|
NM_020066.5(FMN2):c.3174T>A (p.Leu1058=)
|
rs200287374
|
0.00081
|
|
NM_020639.3(RIPK4):c.2008G>A (p.Gly670Ser)
|
rs148192173
|
0.00081
|
|
NM_024824.5(ZC3H14):c.818A>G (p.Tyr273Cys)
|
rs116690538
|
0.00081
|
|
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
|
rs145758265
|
0.00081
|
|
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser)
|
rs147128920
|
0.00081
|
|
NM_173630.4(RTTN):c.1221A>G (p.Glu407=)
|
rs112327299
|
0.00081
|
|
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)
|
rs149362446
|
0.00081
|
|
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=)
|
rs141673192
|
0.00081
|
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
|
NM_000207.2(INS):c.-139A>G
|
rs571342427
|
0.00080
|
|
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=)
|
rs142921504
|
0.00080
|
|
NM_001101.5(ACTB):c.762G>C (p.Arg254=)
|
rs145818896
|
0.00080
|
|
NM_001110792.2(MECP2):c.*9G>A
|
rs144008995
|
0.00080
|
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
|
NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=)
|
rs370827611
|
0.00080
|
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00080
|
|
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser)
|
rs142933317
|
0.00080
|
|
NM_015080.4(NRXN2):c.3651C>T (p.Asn1217=)
|
rs73492149
|
0.00080
|
|
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val)
|
rs202241113
|
0.00080
|
|
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met)
|
rs150680111
|
0.00080
|
|
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)
|
rs371159780
|
0.00080
|
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
|
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)
|
rs183898408
|
0.00079
|
|
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser)
|
rs147084515
|
0.00079
|
|
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)
|
rs150015024
|
0.00079
|
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
|
NM_001374828.1(ARID1B):c.5384A>G (p.Asn1795Ser)
|
rs140177120
|
0.00079
|
|
NM_005327.7(HADH):c.614G>C (p.Gly205Ala)
|
rs144699575
|
0.00079
|
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
|
NM_006059.4(LAMC3):c.2227A>G (p.Asn743Asp)
|
rs36030184
|
0.00079
|
|
NM_014915.3(ANKRD26):c.3735G>A (p.Thr1245=)
|
rs199716344
|
0.00079
|
|
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln)
|
rs149859034
|
0.00079
|
|
NM_020987.5(ANK3):c.7305T>C (p.Tyr2435=)
|
rs115257011
|
0.00079
|
|
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)
|
rs145833100
|
0.00079
|
|
NM_198576.4(AGRN):c.2266G>A (p.Ala756Thr)
|
rs140764403
|
0.00079
|
|
NM_207361.6(FREM2):c.177T>C (p.Gly59=)
|
rs370018440
|
0.00079
|
|
NM_207361.6(FREM2):c.2823C>T (p.Pro941=)
|
rs150154438
|
0.00079
|
|
NM_000209.4(PDX1):c.165C>A (p.Gly55=)
|
rs530567443
|
0.00078
|
|
NM_000297.4(PKD2):c.784G>A (p.Val262Met)
|
rs138132026
|
0.00078
|
|
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=)
|
rs117887683
|
0.00078
|
|
NM_001130438.3(SPTAN1):c.6960-8T>C
|
rs140241053
|
0.00078
|
|
NM_001160372.4(TRAPPC9):c.3241G>A (p.Val1081Ile)
|
rs141067069
|
0.00078
|
|
NM_001353108.3(CEP63):c.567C>A (p.Val189=)
|
rs146845434
|
0.00078
|
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
|
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=)
|
rs151314714
|
0.00078
|
|
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)
|
rs376049260
|
0.00078
|
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
|
NM_006009.4(TUBA1A):c.226+10C>T
|
rs199717430
|
0.00078
|
|
NM_014795.4(ZEB2):c.798G>C (p.Gly266=)
|
rs34961586
|
0.00078
|
|
NM_015662.3(IFT172):c.3186G>A (p.Val1062=)
|
rs143922405
|
0.00078
|
|
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)
|
rs34406289
|
0.00078
|
|
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=)
|
rs77922936
|
0.00078
|
|
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile)
|
rs145165171
|
0.00078
|
|
NM_030665.4(RAI1):c.301G>A (p.Gly101Ser)
|
rs145801481
|
0.00078
|
|
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu)
|
rs117707719
|
0.00078
|
|
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys)
|
rs144832924
|
0.00078
|
|
NM_139276.3(STAT3):c.1492A>G (p.Ile498Val)
|
rs146620441
|
0.00078
|
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
|
NM_212550.5(BLOC1S3):c.-7C>G
|
rs200767686
|
0.00078
|
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
|
NM_001077365.2(POMT1):c.986+9A>G
|
rs202095070
|
0.00077
|
|
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)
|
rs139460397
|
0.00077
|
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
|
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)
|
rs17848880
|
0.00077
|
|
NM_004187.5(KDM5C):c.108C>T (p.Pro36=)
|
rs139309563
|
0.00077
|
|
NM_007294.4(BRCA1):c.-86C>T
|
rs143160357
|
0.00077
|
|
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
|
NM_018136.5(ASPM):c.9985-72G>A
|
rs538986451
|
0.00077
|
|
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373
|
0.00077
|
|
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)
|
rs142320636
|
0.00077
|
|
NM_032122.5(DTNBP1):c.162G>A (p.Arg54=)
|
rs77460377
|
0.00077
|
|
NM_032415.7(CARD11):c.3145-3C>T
|
rs200456391
|
0.00077
|
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
|
NM_000135.4(FANCA):c.2391G>A (p.Ala797=)
|
rs147882314
|
0.00076
|
|
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=)
|
rs149860242
|
0.00076
|
|
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)
|
rs28446339
|
0.00076
|
|
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=)
|
rs140794946
|
0.00076
|
|
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser)
|
rs144900788
|
0.00076
|
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
|
NM_000760.4(CSF3R):c.1723+8T>C
|
rs143931193
|
0.00076
|
|
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=)
|
rs143765389
|
0.00076
|
|
NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=)
|
rs138741225
|
0.00076
|
|
NM_001206744.2(TPO):c.660C>T (p.Val220=)
|
rs151154074
|
0.00076
|
|
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln)
|
rs200276831
|
0.00076
|
|
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys)
|
rs74975451
|
0.00076
|
|
NM_001807.6(CEL):c.554G>A (p.Arg185Gln)
|
rs141665160
|
0.00076
|
|
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)
|
rs112236653
|
0.00076
|
|
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met)
|
rs112921115
|
0.00076
|
|
NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe)
|
rs141934766
|
0.00076
|
|
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met)
|
rs139581644
|
0.00076
|
|
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=)
|
rs9662691
|
0.00076
|
|
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile)
|
rs144251950
|
0.00076
|
|
NM_020987.5(ANK3):c.399C>T (p.Val133=)
|
rs77316697
|
0.00076
|
|
NM_025009.5(CEP135):c.2806A>G (p.Ile936Val)
|
rs139474852
|
0.00076
|
|
NM_030632.3(ASXL3):c.514T>C (p.Ser172Pro)
|
rs201872027
|
0.00076
|
|
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=)
|
rs139448147
|
0.00076
|
|
NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn)
|
rs181511327
|
0.00076
|
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
|
NM_032415.7(CARD11):c.945C>T (p.Asp315=)
|
rs149430714
|
0.00076
|
|
NM_032833.5(PPP1R15B):c.413G>T (p.Ser138Ile)
|
rs145021449
|
0.00076
|
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
|
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)
|
rs149359120
|
0.00075
|
|
NM_000993.5(RPL31):c.252C>T (p.Ile84=)
|
rs138783248
|
0.00075
|
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
|
NM_001080414.4(CCDC88C):c.5906C>T (p.Pro1969Leu)
|
rs138924295
|
0.00075
|
|
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala)
|
rs200150148
|
0.00075
|
|
NM_001111077.2(EZR):c.959+7G>A
|
rs201317128
|
0.00075
|
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
|
NM_001365999.1(SZT2):c.8916+8G>A
|
rs147419780
|
0.00075
|
|
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=)
|
rs111459275
|
0.00075
|
|
NM_001378183.1(PIEZO2):c.6153C>T (p.Ala2051=)
|
rs375812718
|
0.00075
|
|
NM_001813.3(CENPE):c.4273G>A (p.Gly1425Arg)
|
rs116330917
|
0.00075
|
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
|
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)
|
rs144252500
|
0.00075
|
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
|
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
|
rs190023981
|
0.00075
|
|
NM_005357.4(LIPE):c.2985C>T (p.Pro995=)
|
rs370837760
|
0.00075
|
|
NM_012096.3(APPL1):c.2018C>G (p.Ser673Cys)
|
rs138485817
|
0.00075
|
|
NM_013328.4(PYCR2):c.924C>G (p.Leu308=)
|
rs181648767
|
0.00075
|
|
NM_014832.5(TBC1D4):c.3762A>T (p.Glu1254Asp)
|
rs61737963
|
0.00075
|
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
|
NM_022095.4(ZNF335):c.3445A>G (p.Ile1149Val)
|
rs143113106
|
0.00075
|
|
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala)
|
rs149496604
|
0.00075
|
|
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=)
|
rs138560086
|
0.00075
|
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
|
NM_000545.8(HNF1A):c.-89T>C
|
rs767550584
|
0.00074
|
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
|
NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=)
|
rs141618172
|
0.00074
|
|
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)
|
rs41304731
|
0.00074
|
|
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)
|
rs200792504
|
0.00074
|
|
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys)
|
rs144792551
|
0.00074
|
|
NM_001813.3(CENPE):c.7294C>T (p.Leu2432Phe)
|
rs142518565
|
0.00074
|
|
NM_004523.4(KIF11):c.2512A>C (p.Asn838His)
|
rs34647366
|
0.00074
|
|
NM_004830.4(MED23):c.368G>A (p.Arg123Gln)
|
rs145843297
|
0.00074
|
|
NM_005188.4(CBL):c.1641T>C (p.Pro547=)
|
rs61755280
|
0.00074
|
|
NM_005857.5(ZMPSTE24):c.1106G>A (p.Arg369Gln)
|
rs41268053
|
0.00074
|
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00074
|
|
NM_024580.6(EFL1):c.270G>C (p.Leu90=)
|
rs187290995
|
0.00074
|
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
|
NM_177438.3(DICER1):c.2614G>A (p.Ala872Thr)
|
rs149242330
|
0.00074
|
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
|
NM_000552.5(VWF):c.2340C>G (p.Asn780Lys)
|
rs143904314
|
0.00073
|
|
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=)
|
rs144697999
|
0.00073
|
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
|
NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln)
|
rs10007569
|
0.00073
|
|
NM_001194998.2(CEP152):c.133G>A (p.Asp45Asn)
|
rs200227733
|
0.00073
|
|
NM_002582.4(PARN):c.825C>T (p.His275=)
|
rs374114285
|
0.00073
|
|
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)
|
rs377452989
|
0.00073
|
|
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg)
|
rs148384323
|
0.00073
|
|
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys)
|
rs113594027
|
0.00073
|
|
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr)
|
rs141068875
|
0.00073
|
|
NM_018249.6(CDK5RAP2):c.3034C>G (p.Pro1012Ala)
|
rs141496431
|
0.00073
|
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00073
|
|
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu)
|
rs140741466
|
0.00073
|
|
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139
|
0.00073
|
|
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp)
|
rs142887098
|
0.00073
|
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
|
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg)
|
rs140063274
|
0.00073
|
|
NM_032793.5(MFSD2A):c.1533C>T (p.Asp511=)
|
rs138442381
|
0.00073
|
|
NM_144508.5(KNL1):c.2268A>G (p.Ser756=)
|
rs202012571
|
0.00073
|
|
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=)
|
rs145279584
|
0.00073
|
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00073
|
|
NM_152783.5(D2HGDH):c.1140+8G>A
|
rs369135156
|
0.00073
|
|
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)
|
rs149531696
|
0.00072
|
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
|
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr)
|
rs145714752
|
0.00072
|
|
NM_001754.5(RUNX1):c.1086G>C (p.Ser362=)
|
rs143947839
|
0.00072
|
|
NM_002303.6(LEPR):c.594G>A (p.Val198=)
|
rs140347630
|
0.00072
|
|
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)
|
rs148713374
|
0.00072
|
|
NM_002894.3(RBBP8):c.492G>A (p.Pro164=)
|
rs149495397
|
0.00072
|
|
NM_005373.3(MPL):c.962G>A (p.Arg321Gln)
|
rs149265851
|
0.00072
|
|
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385
|
0.00072
|
|
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His)
|
rs201921029
|
0.00072
|
|
NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr)
|
rs201984254
|
0.00072
|
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
|
NM_173728.4(ARHGEF15):c.1260+4G>A
|
rs199691980
|
0.00072
|
|
NM_175875.5(SIX5):c.1656G>A (p.Thr552=)
|
rs149475634
|
0.00072
|
|
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)
|
rs201667254
|
0.00072
|
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
|
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)
|
rs147143094
|
0.00071
|
|
NM_001080449.3(DNA2):c.68C>T (p.Ala23Val)
|
rs200467869
|
0.00071
|
|
NM_001111077.2(EZR):c.1422A>T (p.Pro474=)
|
rs773034103
|
0.00071
|
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
|
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)
|
rs55838839
|
0.00071
|
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
|
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr)
|
rs147784000
|
0.00071
|
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
|
NM_005732.4(RAD50):c.885+11G>A
|
rs117081789
|
0.00071
|
|
NM_006060.6(IKZF1):c.157G>A (p.Val53Met)
|
rs369417059
|
0.00071
|
|
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=)
|
rs145694123
|
0.00071
|
|
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=)
|
rs146858888
|
0.00071
|
|
NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys)
|
rs150994426
|
0.00071
|
|
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
|
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln)
|
rs149692526
|
0.00071
|
|
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)
|
rs143460342
|
0.00071
|
|
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)
|
rs113163375
|
0.00071
|
|
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met)
|
rs61749720
|
0.00070
|
|
NM_001128126.3(AP4S1):c.306+42G>A
|
rs74807133
|
0.00070
|
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
|
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=)
|
rs148195895
|
0.00070
|
|
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu)
|
rs149927607
|
0.00070
|
|
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)
|
rs13306758
|
0.00070
|
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
|
NM_007259.5(VPS45):c.*4G>A
|
rs116597770
|
0.00070
|
|
NM_012216.4(MID2):c.1656T>C (p.Asp552=)
|
rs150716868
|
0.00070
|
|
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln)
|
rs149776253
|
0.00070
|
|
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly)
|
rs75008861
|
0.00070
|
|
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp)
|
rs541606785
|
0.00070
|
|
NM_021956.5(GRIK2):c.890C>G (p.Ser297Trp)
|
rs61996330
|
0.00070
|
|
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=)
|
rs201745281
|
0.00070
|
|
NM_025103.4(IFT74):c.1623+7A>C
|
rs191860894
|
0.00070
|
|
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)
|
rs34521483
|
0.00070
|
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
|
NM_152490.5(B3GALNT2):c.276C>T (p.Phe92=)
|
rs114039725
|
0.00070
|
|
NM_152564.5(VPS13B):c.11495+6A>G
|
rs116546060
|
0.00070
|
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
|
NM_173560.4(RFX6):c.2553G>T (p.Gln851His)
|
rs145117989
|
0.00070
|
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
|
NM_000303.2(PMM2):c.-144G>A
|
rs562806375
|
0.00069
|
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
|
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu)
|
rs77825059
|
0.00069
|
|
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=)
|
rs140417984
|
0.00069
|
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
|
NM_001291867.2(NHS):c.1965T>G (p.Pro655=)
|
rs151009077
|
0.00069
|
|
NM_001330078.2(NRXN1):c.1158+26A>T
|
rs201802152
|
0.00069
|
|
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr)
|
rs145685060
|
0.00069
|
|
NM_002633.3(PGM1):c.247-5696A>T
|
rs200881174
|
0.00069
|
|
NM_003597.5(KLF11):c.33C>T (p.Asp11=)
|
rs769096990
|
0.00069
|
|
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys)
|
rs55790011
|
0.00069
|
|
NM_004407.4(DMP1):c.943G>C (p.Gly315Arg)
|
rs149603030
|
0.00069
|
|
NM_005475.3(SH2B3):c.639C>A (p.Ser213Arg)
|
rs111360561
|
0.00069
|
|
NM_006565.4(CTCF):c.1986C>G (p.Pro662=)
|
rs148681672
|
0.00069
|
|
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)
|
rs148818431
|
0.00069
|
|
NM_007059.4(KPTN):c.733C>G (p.Leu245Val)
|
rs201474471
|
0.00069
|
|
NM_016373.4(WWOX):c.605+9T>A
|
rs368853054
|
0.00069
|
|
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)
|
rs201251295
|
0.00069
|
|
NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val)
|
rs143946953
|
0.00069
|
|
NM_022455.5(NSD1):c.1980C>T (p.Asn660=)
|
rs140072393
|
0.00069
|
|
NM_024580.6(EFL1):c.2326A>G (p.Met776Val)
|
rs200845475
|
0.00069
|
|
NM_025265.4(TSEN2):c.376C>T (p.Arg126Cys)
|
rs151133206
|
0.00069
|
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
|
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)
|
rs141567438
|
0.00069
|
|
NM_032531.4(KIRREL3):c.396C>T (p.Ala132=)
|
rs35152573
|
0.00069
|
|
NM_032793.5(MFSD2A):c.630G>A (p.Thr210=)
|
rs142303528
|
0.00069
|
|
NM_133444.3(ZNF526):c.81G>A (p.Ser27=)
|
rs149913848
|
0.00069
|
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
|
NM_198994.3(TGM6):c.1025G>A (p.Arg342Gln)
|
rs201645096
|
0.00069
|
|
NM_206937.2(LIG4):c.285G>A (p.Glu95=)
|
rs150146196
|
0.00069
|
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
|
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=)
|
rs373854628
|
0.00068
|
|
NM_001042413.2(GLIS3):c.1872C>T (p.Thr624=)
|
rs140309338
|
0.00068
|
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
|
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
|
rs201816596
|
0.00068
|
|
NM_001987.5(ETV6):c.380G>A (p.Arg127Gln)
|
rs140357643
|
0.00068
|
|
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)
|
rs139480342
|
0.00068
|
|
NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys)
|
rs142073810
|
0.00068
|
|
NM_002519.3(NPAT):c.3453A>G (p.Ser1151=)
|
rs201960944
|
0.00068
|
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
|
NM_002764.4(PRPS1):c.447G>A (p.Pro149=)
|
rs80338730
|
0.00068
|
|
NM_003482.4(KMT2D):c.4525A>G (p.Ile1509Val)
|
rs200943206
|
0.00068
|
|
NM_005263.5(GFI1):c.63A>G (p.Pro21=)
|
rs142779589
|
0.00068
|
|
NM_006015.6(ARID1A):c.162C>T (p.Ala54=)
|
rs1001634270
|
0.00068
|
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
|
NM_006206.6(PDGFRA):c.*6G>A
|
rs148697831
|
0.00068
|
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
|
NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu)
|
rs199583130
|
0.00068
|
|
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)
|
rs146332658
|
0.00068
|
|
NM_018993.4(RIN2):c.1966G>A (p.Val656Ile)
|
rs201964534
|
0.00068
|
|
NM_019892.6(INPP5E):c.1623C>T (p.Asp541=)
|
rs77248046
|
0.00068
|
|
NM_020975.6(RET):c.1465G>A (p.Asp489Asn)
|
rs9282834
|
0.00068
|
|
NM_022552.5(DNMT3A):c.2151C>T (p.Asn717=)
|
rs141216815
|
0.00068
|
|
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)
|
rs115328064
|
0.00068
|
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
|
NM_203447.4(DOCK8):c.679G>A (p.Glu227Lys)
|
rs76276364
|
0.00068
|
|
NM_000099.4(CST3):c.214G>T (p.Ala72Ser)
|
rs202145575
|
0.00067
|
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
|
NM_000681.4(ADRA2A):c.225G>C (p.Thr75=)
|
rs12416313
|
0.00067
|
|
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=)
|
rs76956936
|
0.00067
|
|
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser)
|
rs143244149
|
0.00067
|
|
NM_001130438.3(SPTAN1):c.5478+12G>A
|
rs41275900
|
0.00067
|
|
NM_001130438.3(SPTAN1):c.7309-15T>C
|
rs370705867
|
0.00067
|
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
|
NM_004426.3(PHC1):c.2726G>A (p.Gly909Glu)
|
rs141256799
|
0.00067
|
|
NM_004991.4(MECOM):c.2590G>A (p.Asp864Asn)
|
rs75041628
|
0.00067
|
|
NM_006279.5(ST3GAL3):c.209+9918C>T
|
rs113954699
|
0.00067
|
|
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=)
|
rs3744824
|
0.00067
|
|
NM_016373.4(WWOX):c.807C>T (p.Asn269=)
|
rs62034095
|
0.00067
|
|
NM_021008.4(DEAF1):c.1680G>C (p.Met560Ile)
|
rs79183202
|
0.00067
|
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
|
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn)
|
rs201261159
|
0.00067
|
|
NM_139343.3(BIN1):c.30G>A (p.Thr10=)
|
rs35535012
|
0.00067
|
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
|
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)
|
rs181161119
|
0.00066
|
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
|
NM_000383.4(AIRE):c.1383C>T (p.Ala461=)
|
rs147485628
|
0.00066
|
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
|
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=)
|
rs139946168
|
0.00066
|
|
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)
|
rs147445499
|
0.00066
|
|
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)
|
rs146956806
|
0.00066
|
|
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro)
|
rs562249191
|
0.00066
|
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
|
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)
|
rs142228240
|
0.00066
|
|
NM_003072.5(SMARCA4):c.223-5C>T
|
rs376775933
|
0.00066
|
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
|
NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro)
|
rs61756136
|
0.00066
|
|
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)
|
rs138437966
|
0.00066
|
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
|
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=)
|
rs150882711
|
0.00066
|
|
NM_006517.5(SLC16A2):c.447C>T (p.Leu149=)
|
rs200444038
|
0.00066
|
|
NM_007137.5(ZNF81):c.509A>G (p.Lys170Arg)
|
rs200074368
|
0.00066
|
|
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)
|
rs55720177
|
0.00066
|
|
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)
|
rs1800740
|
0.00066
|
|
NM_013382.7(POMT2):c.1935C>T (p.Leu645=)
|
rs141193672
|
0.00066
|
|
NM_014264.5(PLK4):c.1775C>T (p.Ser592Phe)
|
rs141081905
|
0.00066
|
|
NM_014994.3(MAPKBP1):c.2519C>A (p.Ala840Glu)
|
rs147620917
|
0.00066
|
|
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)
|
rs574196735
|
0.00066
|
|
NM_018013.4(SOBP):c.573+12G>A
|
rs199899915
|
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_018249.6(CDK5RAP2):c.55T>C (p.Cys19Arg)
|
rs143766657
|
0.00066
|
|
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)
|
rs41273880
|
0.00066
|
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
|
NM_025132.4(WDR19):c.2363+7C>T
|
rs190180293
|
0.00066
|
|
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)
|
rs113981920
|
0.00066
|
|
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)
|
rs142981643
|
0.00066
|
|
NM_030928.4(CDT1):c.1629G>A (p.Glu543=)
|
rs141644149
|
0.00066
|
|
NM_031466.8(TRAPPC9):c.-11+6C>T
|
rs376367358
|
0.00066
|
|
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=)
|
rs143832191
|
0.00066
|
|
NM_144508.5(KNL1):c.251-9T>C
|
rs371294019
|
0.00066
|
|
NM_144508.5(KNL1):c.5631C>T (p.Leu1877=)
|
rs201853975
|
0.00066
|
|
NR_001566.1(TERC):n.-99C>G
|
rs540289812
|
0.00066
|
|
NM_000162.5(GCK):c.-215A>G
|
rs13306390
|
0.00065
|
|
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=)
|
rs149753273
|
0.00065
|
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
|
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=)
|
rs186619828
|
0.00065
|
|
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=)
|
rs200835571
|
0.00065
|
|
NM_001172509.2(SATB2):c.195C>T (p.Val65=)
|
rs147613731
|
0.00065
|
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
|
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu)
|
rs139083375
|
0.00065
|
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
|
NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser)
|
rs70953660
|
0.00065
|
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
|
NM_015175.3(NBEAL2):c.467G>A (p.Arg156His)
|
rs199797249
|
0.00065
|
|
NM_016343.4(CENPF):c.9158G>A (p.Arg3053Gln)
|
rs143976001
|
0.00065
|
|
NM_025077.4(TOE1):c.106G>A (p.Val36Ile)
|
rs140393352
|
0.00065
|
|
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)
|
rs750958357
|
0.00065
|
|
NM_032122.5(DTNBP1):c.487A>C (p.Arg163=)
|
rs146546977
|
0.00065
|
|
NM_032415.7(CARD11):c.3090C>T (p.Asn1030=)
|
rs112241277
|
0.00065
|
|
NM_152703.5(SAMD9L):c.979A>G (p.Ile327Val)
|
rs144611687
|
0.00065
|
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
|
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser)
|
rs148838377
|
0.00064
|
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
|
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)
|
rs199784139
|
0.00064
|
|
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=)
|
rs184815562
|
0.00064
|
|
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val)
|
rs200208000
|
0.00064
|
|
NM_002397.5(MEF2C):c.811-12G>A
|
rs149706617
|
0.00064
|
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
|
NM_004260.4(RECQL4):c.1621-8A>G
|
rs373357384
|
0.00064
|
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
|
NM_004826.4(ECEL1):c.2229-7A>C
|
rs368488157
|
0.00064
|
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
|
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His)
|
rs201884654
|
0.00064
|
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
|
NM_022552.5(DNMT3A):c.72+10G>A
|
rs370534287
|
0.00064
|
|
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)
|
rs201963605
|
0.00064
|
|
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)
|
rs143590990
|
0.00064
|
|
NM_144508.5(KNL1):c.4615G>A (p.Ala1539Thr)
|
rs199770734
|
0.00064
|
|
NM_173560.4(RFX6):c.1927C>T (p.Pro643Ser)
|
rs572059852
|
0.00064
|
|
NM_181303.2(NLGN3):c.807C>T (p.Ser269=)
|
rs151276700
|
0.00064
|
|
NM_198252.3(GSN):c.-9-2000G>T
|
rs369326886
|
0.00064
|
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
|
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=)
|
rs2229062
|
0.00063
|
|
NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr)
|
rs145712014
|
0.00063
|
|
NM_000377.3(WAS):c.538C>A (p.His180Asn)
|
rs145040665
|
0.00063
|
|
NM_000552.5(VWF):c.4130C>T (p.Ala1377Val)
|
rs141211612
|
0.00063
|
|
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=)
|
rs138771137
|
0.00063
|
|
NM_001018115.3(FANCD2):c.1833C>T (p.Thr611=)
|
rs181219364
|
0.00063
|
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00063
|
|
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)
|
rs149243307
|
0.00063
|
|
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)
|
rs374780430
|
0.00063
|
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
|
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)
|
rs144291418
|
0.00063
|
|
NM_001626.6(AKT2):c.1367-7C>T
|
rs191069336
|
0.00063
|
|
NM_002843.4(PTPRJ):c.2182G>A (p.Glu728Lys)
|
rs181029182
|
0.00063
|
|
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=)
|
rs149393179
|
0.00063
|
|
NM_004830.4(MED23):c.3819G>A (p.Ala1273=)
|
rs150070422
|
0.00063
|
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
|
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp)
|
rs55916864
|
0.00063
|
|
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His)
|
rs199589423
|
0.00063
|
|
NM_006059.4(LAMC3):c.2987G>A (p.Arg996His)
|
rs113785045
|
0.00063
|
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
|
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)
|
rs138817389
|
0.00063
|
|
NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala)
|
rs145759179
|
0.00063
|
|
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu)
|
rs137870876
|
0.00063
|
|
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)
|
rs184758350
|
0.00063
|
|
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser)
|
rs555920534
|
0.00063
|
|
NM_020066.5(FMN2):c.4068T>C (p.Val1356=)
|
rs141335669
|
0.00063
|
|
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)
|
rs142415050
|
0.00063
|
|
NM_173630.4(RTTN):c.630G>C (p.Leu210Phe)
|
rs201538332
|
0.00063
|
|
NM_198252.3(GSN):c.1663G>A (p.Val555Met)
|
rs151208452
|
0.00063
|
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
|
NM_000135.4(FANCA):c.1537T>C (p.Leu513=)
|
rs144118098
|
0.00062
|
|
NM_000249.4(MLH1):c.375A>G (p.Ala125=)
|
rs1800144
|
0.00062
|
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
|
NM_001363.5(DKC1):c.-19G>C
|
rs782563126
|
0.00062
|
|
NM_002691.4(POLD1):c.455C>T (p.Ala152Val)
|
rs41563714
|
0.00062
|
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
|
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro)
|
rs149174093
|
0.00062
|
|
NM_005249.5(FOXG1):c.489C>T (p.Gly163=)
|
rs375378714
|
0.00062
|
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
0.00062
|
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
|
NM_018013.4(SOBP):c.1729C>T (p.Pro577Ser)
|
rs200685194
|
0.00062
|
|
NM_020461.4(TUBGCP6):c.1193C>T (p.Ser398Leu)
|
rs142435821
|
0.00062
|
|
NM_020461.4(TUBGCP6):c.3193G>A (p.Glu1065Lys)
|
rs143759693
|
0.00062
|
|
NM_173495.3(PTCHD1):c.1332C>T (p.Val444=)
|
rs138702144
|
0.00062
|
|
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)
|
rs142704083
|
0.00061
|
|
NM_001032382.2(PQBP1):c.*6C>T
|
rs181088115
|
0.00061
|
|
NM_001080517.3(SETD5):c.1794A>G (p.Ala598=)
|
rs376761696
|
0.00061
|
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00061
|
|
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)
|
rs371737085
|
0.00061
|
|
NM_001247997.2(CLIP1):c.425C>T (p.Ala142Val)
|
rs138030919
|
0.00061
|
|
NM_001254.4(CDC6):c.640C>T (p.Arg214Trp)
|
rs147186134
|
0.00061
|
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
|
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=)
|
rs371344165
|
0.00061
|
|
NM_001330260.2(SCN8A):c.2371-6A>G
|
rs187002252
|
0.00061
|
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
|
NM_001807.6(CEL):c.54G>A (p.Ala18=)
|
rs539606155
|
0.00061
|
|
NM_002335.4(LRP5):c.4348+3A>G
|
rs61375162
|
0.00061
|
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
|
NM_006565.4(CTCF):c.2139C>T (p.Asn713=)
|
rs146712579
|
0.00061
|
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
|
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)
|
rs142299878
|
0.00061
|
|
NM_014264.5(PLK4):c.1830+7C>G
|
rs367752526
|
0.00061
|
|
NM_014444.5(TUBGCP4):c.1965C>A (p.Thr655=)
|
rs368490891
|
0.00061
|
|
NM_017721.5(CC2D1A):c.1401C>T (p.Pro467=)
|
rs200063565
|
0.00061
|
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
|
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=)
|
rs147100928
|
0.00061
|
|
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=)
|
rs143931757
|
0.00061
|
|
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)
|
rs149300669
|
0.00061
|
|
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)
|
rs587778335
|
0.00061
|
|
NM_021956.5(GRIK2):c.2508T>C (p.Phe836=)
|
rs139415092
|
0.00061
|
|
NM_030632.3(ASXL3):c.2731G>A (p.Val911Met)
|
rs201107680
|
0.00061
|
|
NM_032444.4(SLX4):c.339T>C (p.Ser113=)
|
rs144326379
|
0.00061
|
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
|
NM_173560.4(RFX6):c.2438G>C (p.Arg813Thr)
|
rs142162854
|
0.00061
|
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
|
NM_199334.5(THRA):c.577-4C>T
|
rs188965373
|
0.00061
|
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
|
NM_001109809.5(ZFP57):c.113G>A (p.Arg38Gln)
|
rs142917604
|
0.00060
|
|
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
|
rs199917719
|
0.00060
|
|
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro)
|
rs149027201
|
0.00060
|
|
NM_001194998.2(CEP152):c.3355G>A (p.Ala1119Thr)
|
rs61745204
|
0.00060
|
|
NM_001415.4(EIF2S3):c.133+8T>C
|
rs377239918
|
0.00060
|
|
NM_002469.3(MYF6):c.528T>C (p.Gly176=)
|
rs145205388
|
0.00060
|
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
|
NM_003355.3(UCP2):c.140G>A (p.Ser47Asn)
|
rs144018051
|
0.00060
|
|
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)
|
rs139406689
|
0.00060
|
|
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=)
|
rs138814830
|
0.00060
|
|
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp)
|
rs575313866
|
0.00060
|
|
NM_006180.6(NTRK2):c.804G>A (p.Ala268=)
|
rs151196069
|
0.00060
|
|
NM_006949.4(STXBP2):c.165C>T (p.Ile55=)
|
rs11538945
|
0.00060
|
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
|
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=)
|
rs61736585
|
0.00060
|
|
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln)
|
rs45467798
|
0.00060
|
|
NM_024301.5(FKRP):c.636G>A (p.Ala212=)
|
rs370099812
|
0.00060
|
|
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
|
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln)
|
rs141317462
|
0.00060
|
|
NM_152703.5(SAMD9L):c.368C>T (p.Pro123Leu)
|
rs148147724
|
0.00060
|
|
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile)
|
rs56309455
|
0.00059
|
|
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=)
|
rs140556653
|
0.00059
|
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
|
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)
|
rs201820569
|
0.00059
|
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
|
NM_001004320.2(AGMO):c.1263+8del
|
rs770368536
|
0.00059
|
|
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=)
|
rs17881903
|
0.00059
|
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
|
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)
|
rs77705198
|
0.00059
|
|
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=)
|
rs55640811
|
0.00059
|
|
NM_001349338.3(FOXP1):c.1890-5T>C
|
rs187666567
|
0.00059
|
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480
|
0.00059
|
|
NM_001626.6(AKT2):c.442-8C>T
|
rs201884933
|
0.00059
|
|
NM_001987.5(ETV6):c.885C>T (p.Asp295=)
|
rs140005721
|
0.00059
|
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
|
NM_006031.6(PCNT):c.6151-9C>T
|
rs200571944
|
0.00059
|
|
NM_006420.3(ARFGEF2):c.1185C>T (p.Asp395=)
|
rs140378669
|
0.00059
|
|
NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=)
|
rs145406441
|
0.00059
|
|
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=)
|
rs139841529
|
0.00059
|
|
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)
|
rs56119278
|
0.00059
|
|
NM_007327.4(GRIN1):c.768G>C (p.Gly256=)
|
rs141473515
|
0.00059
|
|
NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met)
|
rs137924687
|
0.00059
|
|
NM_015634.4(KIFBP):c.78A>G (p.Lys26=)
|
rs144067344
|
0.00059
|
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
|
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser)
|
rs117963393
|
0.00059
|
|
NM_018249.6(CDK5RAP2):c.2289C>T (p.His763=)
|
rs36001459
|
0.00059
|
|
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)
|
rs141268133
|
0.00059
|
|
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)
|
rs373913704
|
0.00059
|
|
NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His)
|
rs144817990
|
0.00059
|
|
NM_030632.3(ASXL3):c.1707C>T (p.Thr569=)
|
rs371181408
|
0.00059
|
|
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248
|
0.00059
|
|
NM_030962.4(SBF2):c.4947G>A (p.Leu1649=)
|
rs149659495
|
0.00059
|
|
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)
|
rs144273492
|
0.00059
|
|
NM_032806.6(POMGNT2):c.561C>T (p.His187=)
|
rs147429438
|
0.00059
|
|
NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg)
|
rs139068225
|
0.00059
|
|
NM_177438.3(DICER1):c.5203C>T (p.Leu1735=)
|
rs188609628
|
0.00059
|
|
NM_000022.4(ADA):c.606+10G>A
|
rs201045221
|
0.00058
|
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
|
NM_000162.5(GCK):c.-281G>C
|
rs570705419
|
0.00058
|
|
NM_000179.3(MSH6):c.1869C>T (p.Pro623=)
|
rs141242295
|
0.00058
|
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
|
NM_000208.4(INSR):c.2295C>T (p.Gly765=)
|
rs142654992
|
0.00058
|
|
NM_000284.4(PDHA1):c.604-10C>T
|
rs201754585
|
0.00058
|
|
NM_000534.5(PMS1):c.224C>T (p.Thr75Ile)
|
rs61756360
|
0.00058
|
|
NM_000552.5(VWF):c.1329C>T (p.Ser443=)
|
rs142404899
|
0.00058
|
|
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)
|
rs140162759
|
0.00058
|
|
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)
|
rs145734811
|
0.00058
|
|
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg)
|
rs142101123
|
0.00058
|
|
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)
|
rs72558029
|
0.00058
|
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
|
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)
|
rs199422322
|
0.00058
|
|
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly)
|
rs149008479
|
0.00058
|
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
|
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val)
|
rs199948752
|
0.00058
|
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
|
NM_001395413.1(POR):c.1106C>T (p.Thr369Met)
|
rs367810540
|
0.00058
|
|
NM_003383.5(VLDLR):c.468C>T (p.Pro156=)
|
rs2242105
|
0.00058
|
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
|
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=)
|
rs145756629
|
0.00058
|
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
|
NM_004830.4(MED23):c.2034A>G (p.Ala678=)
|
rs143184324
|
0.00058
|
|
NM_005068.3(SIM1):c.2119G>C (p.Asp707His)
|
rs74726213
|
0.00058
|
|
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)
|
rs55808233
|
0.00058
|
|
NM_015634.4(KIFBP):c.1399C>T (p.Leu467=)
|
rs142011043
|
0.00058
|
|
NM_018249.6(CDK5RAP2):c.5152C>G (p.Leu1718Val)
|
rs141004029
|
0.00058
|
|
NM_020987.5(ANK3):c.4826C>T (p.Thr1609Met)
|
rs148024054
|
0.00058
|
|
NM_031407.7(HUWE1):c.9213T>C (p.Arg3071=)
|
rs112038748
|
0.00058
|
|
NM_032806.6(POMGNT2):c.1219C>T (p.Arg407Trp)
|
rs138480528
|
0.00058
|
|
NM_033022.4(RPS24):c.-4C>T
|
rs370476367
|
0.00058
|
|
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)
|
rs201431517
|
0.00058
|
|
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His)
|
rs61978626
|
0.00058
|
|
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)
|
rs113663584
|
0.00057
|
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
|
NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)
|
rs201030692
|
0.00057
|
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
|
NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser)
|
rs140583017
|
0.00057
|
|
NM_001371623.1(TCOF1):c.1864G>A (p.Glu622Lys)
|
rs144872197
|
0.00057
|
|
NM_001715.3(BLK):c.223C>G (p.Arg75Gly)
|
rs149393791
|
0.00057
|
|
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
0.00057
|
|
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=)
|
rs200939188
|
0.00057
|
|
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr)
|
rs142833529
|
0.00057
|
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
|
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)
|
rs142524280
|
0.00057
|
|
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys)
|
rs71524353
|
0.00057
|
|
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu)
|
rs138898373
|
0.00057
|
|
NM_013328.4(PYCR2):c.941C>G (p.Ala314Gly)
|
rs117063721
|
0.00057
|
|
NM_014444.5(TUBGCP4):c.967G>T (p.Val323Leu)
|
rs191224065
|
0.00057
|
|
NM_020921.4(NIN):c.421G>A (p.Gly141Ser)
|
rs143800977
|
0.00057
|
|
NM_024735.5(FBXO31):c.322A>C (p.Arg108=)
|
rs144701197
|
0.00057
|
|
NM_030653.4(DDX11):c.545C>T (p.Pro182Leu)
|
rs140186422
|
0.00057
|
|
NM_032237.5(POMK):c.565A>G (p.Ile189Val)
|
rs149297443
|
0.00057
|
|
NM_032793.5(MFSD2A):c.942C>T (p.Asn314=)
|
rs147123833
|
0.00057
|
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
|
NM_203447.4(DOCK8):c.5962-9T>C
|
rs1324502895
|
0.00057
|
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
|
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=)
|
rs112566179
|
0.00056
|
|
NM_000352.4(ABCC8):c.-544G>A
|
rs184908312
|
0.00056
|
|
NM_000426.4(LAMA2):c.7300+10T>A
|
rs200469923
|
0.00056
|
|
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys)
|
rs139131007
|
0.00056
|
|
NM_000760.4(CSF3R):c.2496G>A (p.Ala832=)
|
rs150501885
|
0.00056
|
|
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser)
|
rs149055327
|
0.00056
|
|
NM_001012339.3(DNAJC21):c.370G>C (p.Glu124Gln)
|
rs139629564
|
0.00056
|
|
NM_001018115.3(FANCD2):c.205+9T>G
|
rs34113138
|
0.00056
|
|
NM_001029.5(RPS26):c.-3A>G
|
rs181174349
|
0.00056
|
|
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)
|
rs201488545
|
0.00056
|
|
NM_001111077.2(EZR):c.1293G>C (p.Leu431=)
|
rs141046324
|
0.00056
|
|
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val)
|
rs143778652
|
0.00056
|
|
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr)
|
rs150200902
|
0.00056
|
|
NM_001184.4(ATR):c.4677C>T (p.Asp1559=)
|
rs112726878
|
0.00056
|
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
0.00056
|
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
|
NM_003108.4(SOX11):c.709C>G (p.Leu237Val)
|
rs140772793
|
0.00056
|
|
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=)
|
rs180784366
|
0.00056
|
|
NM_004153.4(ORC1):c.1581A>G (p.Gly527=)
|
rs141066689
|
0.00056
|
|
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg)
|
rs148246073
|
0.00056
|
|
NM_005068.3(SIM1):c.282G>A (p.Val94=)
|
rs141603696
|
0.00056
|
|
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
|
rs61760160
|
0.00056
|
|
NM_005263.5(GFI1):c.1032C>T (p.Tyr344=)
|
rs139144506
|
0.00056
|
|
NM_005491.5(MAMLD1):c.1699C>T (p.Pro567Ser)
|
rs146443503
|
0.00056
|
|
NM_006031.6(PCNT):c.2866G>A (p.Asp956Asn)
|
rs146728385
|
0.00056
|
|
NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=)
|
rs145701892
|
0.00056
|
|
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp)
|
rs117173425
|
0.00056
|
|
NM_015166.4(MLC1):c.1053T>C (p.Ala351=)
|
rs11568190
|
0.00056
|
|
NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile)
|
rs146270553
|
0.00056
|
|
NM_015421.4(TMEM186):c.3+67G>A
|
rs144528400
|
0.00056
|
|
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly)
|
rs142901223
|
0.00056
|
|
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)
|
rs144938364
|
0.00056
|
|
NM_020987.5(ANK3):c.4400A>G (p.Lys1467Arg)
|
rs139982397
|
0.00056
|
|
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)
|
rs201354264
|
0.00056
|
|
NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=)
|
rs377152896
|
0.00056
|
|
NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala)
|
rs201725914
|
0.00056
|
|
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=)
|
rs148542094
|
0.00056
|
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
|
NM_138711.6(PPARG):c.348T>C (p.Ala116=)
|
rs147975759
|
0.00056
|
|
NM_144508.5(KNL1):c.4340C>T (p.Thr1447Ile)
|
rs200605040
|
0.00056
|
|
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp)
|
rs75482179
|
0.00056
|
|
NM_198253.3(TERT):c.1836C>G (p.Ala612=)
|
rs34170122
|
0.00056
|
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
|
NM_001008537.3(NEXMIF):c.4509T>C (p.Pro1503=)
|
rs41303725
|
0.00055
|
|
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala)
|
rs138809301
|
0.00055
|
|
NM_001143992.2(WRAP53):c.919C>T (p.Arg307Trp)
|
rs149828392
|
0.00055
|
|
NM_001201550.3(CFHR4):c.1131T>A (p.Gly377=)
|
rs2478007
|
0.00055
|
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
|
NM_001614.5(ACTG1):c.228C>T (p.Val76=)
|
rs143028649
|
0.00055
|
|
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)
|
rs140272085
|
0.00055
|
|
NM_004972.4(JAK2):c.2538G>C (p.Glu846Asp)
|
rs150221602
|
0.00055
|
|
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys)
|
rs147990742
|
0.00055
|
|
NM_005045.4(RELN):c.7644G>A (p.Ser2548=)
|
rs150743664
|
0.00055
|
|
NM_005373.3(MPL):c.1570C>T (p.Leu524=)
|
rs146372205
|
0.00055
|
|
NM_006910.5(RBBP6):c.437+10T>C
|
rs185484683
|
0.00055
|
|
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val)
|
rs17847095
|
0.00055
|
|
NM_014832.5(TBC1D4):c.3827A>G (p.Asn1276Ser)
|
rs199954281
|
0.00055
|
|
NM_016222.4(DDX41):c.1622-5C>G
|
rs374359854
|
0.00055
|
|
NM_020066.5(FMN2):c.2823A>C (p.Gly941=)
|
rs188083977
|
0.00055
|
|
NM_020461.4(TUBGCP6):c.1026G>A (p.Pro342=)
|
rs141805017
|
0.00055
|
|
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=)
|
rs144659358
|
0.00055
|
|
NM_181303.2(NLGN3):c.603C>G (p.Pro201=)
|
rs35794236
|
0.00055
|
|
NM_000038.6(APC):c.2476T>G (p.Leu826Val)
|
rs145245264
|
0.00054
|
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
|
NM_000142.5(FGFR3):c.1646-4C>T
|
rs200428838
|
0.00054
|
|
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser)
|
rs78592515
|
0.00054
|
|
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)
|
rs139779505
|
0.00054
|
|
NM_000553.6(WRN):c.3453G>A (p.Glu1151=)
|
rs144116311
|
0.00054
|
|
NM_001040142.2(SCN2A):c.2388+9C>A
|
rs191955969
|
0.00054
|
|
NM_001040616.3(LINS1):c.1851G>T (p.Leu617=)
|
rs146405261
|
0.00054
|
|
NM_001111077.2(EZR):c.538C>T (p.Arg180Cys)
|
rs3103004
|
0.00054
|
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
|
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)
|
rs199598302
|
0.00054
|
|
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=)
|
rs146526273
|
0.00054
|
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
|
NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln)
|
rs141390544
|
0.00054
|
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
|
NM_003184.4(TAF2):c.1551G>A (p.Pro517=)
|
rs147865905
|
0.00054
|
|
NM_004933.3(CDH15):c.1849C>T (p.Leu617=)
|
rs369195898
|
0.00054
|
|
NM_005045.4(RELN):c.6939T>C (p.Ile2313=)
|
rs113498433
|
0.00054
|
|
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=)
|
rs148868283
|
0.00054
|
|
NM_006950.3(SYN1):c.426A>G (p.Lys142=)
|
rs145911562
|
0.00054
|
|
NM_007294.4(BRCA1):c.301+8T>C
|
rs80358101
|
0.00054
|
|
NM_012309.5(SHANK2):c.4272C>T (p.Pro1424=)
|
rs147305649
|
0.00054
|
|
NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln)
|
rs140735182
|
0.00054
|
|
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449
|
0.00054
|
|
NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu)
|
rs140119882
|
0.00054
|
|
NM_018451.5(CENPJ):c.1410G>A (p.Pro470=)
|
rs115628561
|
0.00054
|
|
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)
|
rs201692549
|
0.00054
|
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
|
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)
|
rs150920473
|
0.00054
|
|
NM_023067.4(FOXL2):c.1071T>C (p.His357=)
|
rs146709691
|
0.00054
|
|
NM_024596.5(MCPH1):c.1061T>C (p.Val354Ala)
|
rs148526209
|
0.00054
|
|
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)
|
rs140384742
|
0.00054
|
|
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=)
|
rs150331504
|
0.00054
|
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
|
NM_144773.4(PROKR2):c.390C>T (p.Ser130=)
|
rs144778137
|
0.00054
|
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
|
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln)
|
rs146890274
|
0.00054
|
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
|
NM_198253.3(TERT):c.1953C>T (p.Ala651=)
|
rs201088708
|
0.00054
|
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
|
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)
|
rs772106076
|
0.00053
|
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
|
NM_000377.3(WAS):c.90C>T (p.His30=)
|
rs148800063
|
0.00053
|
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
|
NM_001012339.3(DNAJC21):c.1315G>A (p.Glu439Lys)
|
rs115834468
|
0.00053
|
|
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
|
NM_001083961.2(WDR62):c.4564G>A (p.Gly1522Arg)
|
rs142600079
|
0.00053
|
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
|
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=)
|
rs140749530
|
0.00053
|
|
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=)
|
rs187442951
|
0.00053
|
|
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=)
|
rs117872964
|
0.00053
|
|
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)
|
rs145005596
|
0.00053
|
|
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=)
|
rs143446587
|
0.00053
|
|
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln)
|
rs137964936
|
0.00053
|
|
NM_001680.5(FXYD2):c.110C>A (p.Ala37Asp)
|
rs138991613
|
0.00053
|
|
NM_002024.6(FMR1):c.375T>C (p.Thr125=)
|
rs143611778
|
0.00053
|
|
NM_002691.4(POLD1):c.1665C>T (p.Val555=)
|
rs150238541
|
0.00053
|
|
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)
|
rs148487944
|
0.00053
|
|
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His)
|
rs34236392
|
0.00053
|
|
NM_004434.3(EML1):c.1452C>T (p.Leu484=)
|
rs147023936
|
0.00053
|
|
NM_004722.4(AP4M1):c.930G>A (p.Arg310=)
|
rs141754568
|
0.00053
|
|
NM_005373.3(MPL):c.793C>T (p.Leu265Phe)
|
rs117656396
|
0.00053
|
|
NM_006009.4(TUBA1A):c.4-7C>T
|
rs560491477
|
0.00053
|
|
NM_006947.4(SRP72):c.1704A>G (p.Pro568=)
|
rs41280351
|
0.00053
|
|
NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys)
|
rs200930841
|
0.00053
|
|
NM_016180.5(SLC45A2):c.1352G>A (p.Arg451His)
|
rs142680641
|
0.00053
|
|
NM_016302.4(CRBN):c.564T>C (p.Cys188=)
|
rs150595840
|
0.00053
|
|
NM_016343.4(CENPF):c.6473A>G (p.Asn2158Ser)
|
rs376037863
|
0.00053
|
|
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)
|
rs146284370
|
0.00053
|
|
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)
|
rs141276237
|
0.00053
|
|
NM_031407.7(HUWE1):c.8298A>G (p.Gln2766=)
|
rs202214456
|
0.00053
|
|
NM_032415.7(CARD11):c.2451G>A (p.Ala817=)
|
rs141131560
|
0.00053
|
|
NM_032444.4(SLX4):c.2844G>A (p.Ala948=)
|
rs376877866
|
0.00053
|
|
NM_138425.4(C12orf57):c.-4C>T
|
rs377078607
|
0.00053
|
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
|
NM_152703.5(SAMD9L):c.1995A>C (p.Thr665=)
|
rs142212031
|
0.00053
|
|
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)
|
rs142285781
|
0.00053
|
|
NM_181303.2(NLGN3):c.594T>C (p.Gly198=)
|
rs144247281
|
0.00053
|
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
|
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=)
|
rs147495708
|
0.00053
|
|
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly)
|
rs148146916
|
0.00053
|
|
NM_000032.5(ALAS2):c.653G>A (p.Arg218His)
|
rs185504937
|
0.00052
|
|
NM_000349.3(STAR):c.177C>T (p.Leu59=)
|
rs142910480
|
0.00052
|
|
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)
|
rs138750983
|
0.00052
|
|
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
|
rs201177696
|
0.00052
|
|
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)
|
rs140936904
|
0.00052
|
|
NM_000478.6(ALPL):c.468C>T (p.Asp156=)
|
rs143621566
|
0.00052
|
|
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)
|
rs139323683
|
0.00052
|
|
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg)
|
rs141141752
|
0.00052
|
|
NM_001098511.3(KIF2A):c.48G>A (p.Glu16=)
|
rs533812435
|
0.00052
|
|
NM_002472.3(MYH8):c.578G>A (p.Arg193His)
|
rs145863180
|
0.00052
|
|
NM_003482.4(KMT2D):c.10824A>G (p.Gln3608=)
|
rs189571290
|
0.00052
|
|
NM_004426.3(PHC1):c.162C>T (p.His54=)
|
rs140650800
|
0.00052
|
|
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val)
|
rs370664761
|
0.00052
|
|
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His)
|
rs151045115
|
0.00052
|
|
NM_007347.5(AP4E1):c.613C>A (p.His205Asn)
|
rs148499164
|
0.00052
|
|
NM_014915.3(ANKRD26):c.945A>G (p.Gln315=)
|
rs200199151
|
0.00052
|
|
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile)
|
rs143020939
|
0.00052
|
|
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)
|
rs201845569
|
0.00052
|
|
NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg)
|
rs139706626
|
0.00052
|
|
NM_020207.7(ERCC6L2):c.160G>A (p.Val54Ile)
|
rs148041136
|
0.00052
|
|
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)
|
rs150716811
|
0.00052
|
|
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)
|
rs150854966
|
0.00052
|
|
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=)
|
rs150936204
|
0.00052
|
|
NM_025077.4(TOE1):c.196-3C>T
|
rs200821819
|
0.00052
|
|
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)
|
rs145533919
|
0.00052
|
|
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe)
|
rs145839736
|
0.00052
|
|
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=)
|
rs35430888
|
0.00052
|
|
NM_000038.6(APC):c.3963C>T (p.Ser1321=)
|
rs150595875
|
0.00051
|
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
|
NM_000057.4(BLM):c.465T>C (p.Asp155=)
|
rs185349681
|
0.00051
|
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
|
NM_000334.4(SCN4A):c.5274C>T (p.His1758=)
|
rs113418988
|
0.00051
|
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
|
NM_000381.4(MID1):c.1489C>T (p.Leu497=)
|
rs138629923
|
0.00051
|
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
|
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp)
|
rs184394342
|
0.00051
|
|
NM_001040616.3(LINS1):c.864C>T (p.Thr288=)
|
rs150775570
|
0.00051
|
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
|
NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg)
|
rs201506921
|
0.00051
|
|
NM_001164508.2(NEB):c.3468C>T (p.Val1156=)
|
rs373258662
|
0.00051
|
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
|
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=)
|
rs142739953
|
0.00051
|
|
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)
|
rs201727684
|
0.00051
|
|
NM_001346022.3(USP45):c.1196A>G (p.Asn399Ser)
|
rs142018914
|
0.00051
|
|
NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile)
|
rs117366477
|
0.00051
|
|
NM_002582.4(PARN):c.1874C>T (p.Ser625Leu)
|
rs201963032
|
0.00051
|
|
NM_002875.5(RAD51):c.164C>T (p.Ala55Val)
|
rs145617142
|
0.00051
|
|
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=)
|
rs149874634
|
0.00051
|
|
NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile)
|
rs35334949
|
0.00051
|
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
|
NM_003482.4(KMT2D):c.9547G>C (p.Ala3183Pro)
|
rs200429063
|
0.00051
|
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
|
NM_004933.3(CDH15):c.2237C>T (p.Ala746Val)
|
rs139450416
|
0.00051
|
|
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=)
|
rs150756913
|
0.00051
|
|
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser)
|
rs78936193
|
0.00051
|
|
NM_006623.4(PHGDH):c.834C>A (p.Val278=)
|
rs147866831
|
0.00051
|
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
|
NM_007254.4(PNKP):c.1557C>T (p.Ser519=)
|
rs142180374
|
0.00051
|
|
NM_007327.4(GRIN1):c.1513C>T (p.Leu505=)
|
rs139637382
|
0.00051
|
|
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg)
|
rs149244771
|
0.00051
|
|
NM_020461.4(TUBGCP6):c.1539C>T (p.Cys513=)
|
rs149982006
|
0.00051
|
|
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)
|
rs147582834
|
0.00051
|
|
NM_022725.4(FANCF):c.385C>G (p.Leu129Val)
|
rs61753271
|
0.00051
|
|
NM_025132.4(WDR19):c.490G>A (p.Val164Ile)
|
rs199514431
|
0.00051
|
|
NM_030632.3(ASXL3):c.1454A>G (p.Asn485Ser)
|
rs151027205
|
0.00051
|
|
NM_032043.3(BRIP1):c.1935+11G>A
|
rs79121306
|
0.00051
|
|
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=)
|
rs140844106
|
0.00051
|
|
NM_032531.4(KIRREL3):c.870C>A (p.Ile290=)
|
rs200243864
|
0.00051
|
|
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=)
|
rs145952190
|
0.00051
|
|
NM_133473.4(ZNF431):c.264G>A (p.Glu88=)
|
rs142355676
|
0.00051
|
|
NM_152703.5(SAMD9L):c.4462G>A (p.Val1488Ile)
|
rs139478067
|
0.00051
|
|
NR_184036.1(R3HDML-AS1):n.3A>G
|
rs377144780
|
0.00051
|
|
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=)
|
rs147833498
|
0.00050
|
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
|
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=)
|
rs199698414
|
0.00050
|
|
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)
|
rs2285895
|
0.00050
|
|
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu)
|
rs202245444
|
0.00050
|
|
NM_001110792.2(MECP2):c.879C>T (p.Ala293=)
|
rs61750252
|
0.00050
|
|
NM_001128126.3(AP4S1):c.306+4283C>T
|
rs143795469
|
0.00050
|
|
NM_001184.4(ATR):c.4641+15C>T
|
rs200619976
|
0.00050
|
|
NM_002582.4(PARN):c.1102A>T (p.Ser368Cys)
|
rs138984302
|
0.00050
|
|
NM_002582.4(PARN):c.1464C>T (p.Pro488=)
|
rs61748886
|
0.00050
|
|
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)
|
rs200605669
|
0.00050
|
|
NM_004484.4(GPC3):c.660C>T (p.Ser220=)
|
rs138450923
|
0.00050
|
|
NM_004656.4(BAP1):c.501G>A (p.Ala167=)
|
rs148631953
|
0.00050
|
|
NM_005045.4(RELN):c.1386C>T (p.Cys462=)
|
rs139321058
|
0.00050
|
|
NM_005359.6(SMAD4):c.880A>G (p.Met294Val)
|
rs7238500
|
0.00050
|
|
NM_007059.4(KPTN):c.1035G>A (p.Ser345=)
|
rs201351395
|
0.00050
|
|
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala)
|
rs146014368
|
0.00050
|
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
|
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile)
|
rs149842844
|
0.00050
|
|
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=)
|
rs138091242
|
0.00050
|
|
NM_020461.4(TUBGCP6):c.2724G>A (p.Pro908=)
|
rs140491142
|
0.00050
|
|
NM_020987.5(ANK3):c.315+10A>G
|
rs202079424
|
0.00050
|
|
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)
|
rs144047610
|
0.00050
|
|
NM_025103.4(IFT74):c.1584A>T (p.Ala528=)
|
rs371641870
|
0.00050
|
|
NM_031407.7(HUWE1):c.654T>C (p.Ser218=)
|
rs148129382
|
0.00050
|
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
|
NM_152703.5(SAMD9L):c.4383A>C (p.Gly1461=)
|
rs139201196
|
0.00050
|
|
NM_198253.2(TERT):c.-193T>C
|
rs559772340
|
0.00050
|
|
NM_198253.3(TERT):c.2106G>A (p.Pro702=)
|
rs151055240
|
0.00050
|
|
NM_199242.3(UNC13D):c.2783G>A (p.Arg928His)
|
rs113461073
|
0.00050
|
|
NM_000162.5(GCK):c.-453C>T
|
rs191795044
|
0.00049
|
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
|
NM_001113525.2(ZNF276):c.*470A>C
|
rs372268907
|
0.00049
|
|
NM_001194998.2(CEP152):c.996T>C (p.Thr332=)
|
rs199873069
|
0.00049
|
|
NM_001253852.3(AP4B1):c.967T>A (p.Ser323Thr)
|
rs149335605
|
0.00049
|
|
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)
|
rs370080995
|
0.00049
|
|
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=)
|
rs144424662
|
0.00049
|
|
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=)
|
rs17540735
|
0.00049
|
|
NM_002168.4(IDH2):c.1038C>T (p.Ala346=)
|
rs190078206
|
0.00049
|
|
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)
|
rs142135772
|
0.00049
|
|
NM_003361.4(UMOD):c.1464C>T (p.Gly488=)
|
rs141912637
|
0.00049
|
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
|
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His)
|
rs368989729
|
0.00049
|
|
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro)
|
rs188918037
|
0.00049
|
|
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg)
|
rs561818288
|
0.00049
|
|
NM_005886.3(KATNB1):c.1046+9C>G
|
rs372112294
|
0.00049
|
|
NM_006642.5(SDCCAG8):c.547-4T>G
|
rs12080579
|
0.00049
|
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
|
NM_019066.5(MAGEL2):c.1404C>A (p.Ala468=)
|
rs2233064
|
0.00049
|
|
NM_024824.5(ZC3H14):c.2130G>A (p.Pro710=)
|
rs149865117
|
0.00049
|
|
NM_025099.6(CTC1):c.2522G>A (p.Arg841His)
|
rs780358670
|
0.00049
|
|
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=)
|
rs139561508
|
0.00049
|
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
|
NM_144969.3(ZDHHC15):c.747C>T (p.Cys249=)
|
rs147278537
|
0.00049
|
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
|
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)
|
rs61753269
|
0.00048
|
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
|
NM_000208.4(INSR):c.1584G>A (p.Leu528=)
|
rs145334760
|
0.00048
|
|
NM_000208.4(INSR):c.2573C>T (p.Thr858Met)
|
rs201466857
|
0.00048
|
|
NM_000275.3(OCA2):c.954G>A (p.Met318Ile)
|
rs529219961
|
0.00048
|
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
|
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)
|
rs368907353
|
0.00048
|
|
NM_001083961.2(WDR62):c.1836+34G>T
|
rs201569352
|
0.00048
|
|
NM_001143992.2(WRAP53):c.732C>T (p.Tyr244=)
|
rs8071451
|
0.00048
|
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
|
NM_001244008.2(KIF1A):c.138G>A (p.Thr46=)
|
rs192880105
|
0.00048
|
|
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)
|
rs201825284
|
0.00048
|
|
NM_001330288.2(SMARCC2):c.1158A>G (p.Glu386=)
|
rs34308410
|
0.00048
|
|
NM_001366110.1(PAX4):c.932C>T (p.Pro311Leu)
|
rs142426878
|
0.00048
|
|
NM_001368397.1(FRMPD4):c.1218G>A (p.Lys406=)
|
rs140428359
|
0.00048
|
|
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)
|
rs200054604
|
0.00048
|
|
NM_001378778.1(MPDZ):c.2914C>T (p.Pro972Ser)
|
rs186662317
|
0.00048
|
|
NM_001429.4(EP300):c.3105C>T (p.Thr1035=)
|
rs150498069
|
0.00048
|
|
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=)
|
rs117517372
|
0.00048
|
|
NM_001626.6(AKT2):c.960+3G>A
|
rs56165898
|
0.00048
|
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
|
NM_002894.3(RBBP8):c.871A>G (p.Lys291Glu)
|
rs140295451
|
0.00048
|
|
NM_003184.4(TAF2):c.3320T>G (p.Leu1107Arg)
|
rs546468025
|
0.00048
|
|
NM_004268.5(MED17):c.1748G>A (p.Arg583His)
|
rs548231700
|
0.00048
|
|
NM_004958.4(MTOR):c.7367-3T>C
|
rs56412200
|
0.00048
|
|
NM_004972.4(JAK2):c.1710C>T (p.Tyr570=)
|
rs146433914
|
0.00048
|
|
NM_004991.4(MECOM):c.2492T>C (p.Val831Ala)
|
rs200965422
|
0.00048
|
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
|
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr)
|
rs192401229
|
0.00048
|
|
NM_012156.2(EPB41L1):c.1934G>A (p.Arg645Gln)
|
rs78442416
|
0.00048
|
|
NM_014008.5(CCDC22):c.901T>C (p.Phe301Leu)
|
rs147674513
|
0.00048
|
|
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln)
|
rs758630057
|
0.00048
|
|
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His)
|
rs138738227
|
0.00048
|
|
NM_014762.4(DHCR24):c.731C>T (p.Pro244Leu)
|
rs138667252
|
0.00048
|
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
|
NM_017757.3(ZNF407):c.4939A>G (p.Met1647Val)
|
rs200073088
|
0.00048
|
|
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg)
|
rs199619932
|
0.00048
|
|
NM_020461.4(TUBGCP6):c.3898C>T (p.His1300Tyr)
|
rs148601529
|
0.00048
|
|
NM_020461.4(TUBGCP6):c.5052C>T (p.Ile1684=)
|
rs139368772
|
0.00048
|
|
NM_020717.5(SHROOM4):c.3533A>G (p.Glu1178Gly)
|
rs369531430
|
0.00048
|
|
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly)
|
rs201077878
|
0.00048
|
|
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
0.00048
|
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
|
NM_024824.5(ZC3H14):c.1071G>A (p.Lys357=)
|
rs147484262
|
0.00048
|
|
NM_025074.7(FRAS1):c.1607A>G (p.His536Arg)
|
rs193245098
|
0.00048
|
|
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)
|
rs201891953
|
0.00048
|
|
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)
|
rs200784979
|
0.00048
|
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
|
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)
|
rs80358349
|
0.00048
|
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
|
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=)
|
rs138676073
|
0.00048
|
|
NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg)
|
rs139238702
|
0.00048
|
|
NM_198253.3(TERT):c.2130+10G>A
|
rs373879259
|
0.00048
|
|
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser)
|
rs3093765
|
0.00048
|
|
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=)
|
rs11571832
|
0.00047
|
|
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg)
|
rs140934482
|
0.00047
|
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
|
NM_000500.9(CYP21A2):c.69G>T (p.Trp23Cys)
|
rs72552744
|
0.00047
|
|
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=)
|
rs147253810
|
0.00047
|
|
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
|
rs200161949
|
0.00047
|
|
NM_001174150.2(ARL13B):c.130+7T>C
|
rs200527262
|
0.00047
|
|
NM_001174150.2(ARL13B):c.690-5G>A
|
rs373173586
|
0.00047
|
|
NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu)
|
rs372641908
|
0.00047
|
|
NM_001387430.1(SH2B1):c.524C>A (p.Thr175Asn)
|
rs147094247
|
0.00047
|
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
|
NM_002768.5(CHMP1A):c.408C>T (p.Ala136=)
|
rs61730919
|
0.00047
|
|
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=)
|
rs201709328
|
0.00047
|
|
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)
|
rs112652327
|
0.00047
|
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
|
NM_004523.4(KIF11):c.2775G>A (p.Thr925=)
|
rs138462002
|
0.00047
|
|
NM_004595.5(SMS):c.330A>G (p.Arg110=)
|
rs142264016
|
0.00047
|
|
NM_004972.4(JAK2):c.1711G>A (p.Gly571Ser)
|
rs139504737
|
0.00047
|
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
|
NM_006565.4(CTCF):c.1887C>T (p.Ala629=)
|
rs149766428
|
0.00047
|
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
|
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu)
|
rs145650484
|
0.00047
|
|
NM_018249.6(CDK5RAP2):c.2602C>G (p.Leu868Val)
|
rs142340223
|
0.00047
|
|
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=)
|
rs61749475
|
0.00047
|
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
|
NM_024782.3(NHEJ1):c.57A>G (p.Ala19=)
|
rs61757394
|
0.00047
|
|
NM_152383.5(DIS3L2):c.795C>T (p.Tyr265=)
|
rs202042951
|
0.00047
|
|
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His)
|
rs147430035
|
0.00047
|
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
|
NM_000751.3(CHRND):c.408C>T (p.Tyr136=)
|
rs112921420
|
0.00046
|
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
|
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)
|
rs372265042
|
0.00046
|
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
|
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=)
|
rs146979083
|
0.00046
|
|
NM_001127208.3(TET2):c.3116C>T (p.Ser1039Leu)
|
rs111678678
|
0.00046
|
|
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=)
|
rs143844598
|
0.00046
|
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
|
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val)
|
rs150328852
|
0.00046
|
|
NM_001206999.2(CIT):c.5072-6G>T
|
rs200862487
|
0.00046
|
|
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)
|
rs192953152
|
0.00046
|
|
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)
|
rs73036368
|
0.00046
|
|
NM_001273.5(CHD4):c.101-5T>A
|
rs201854884
|
0.00046
|
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
|
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=)
|
rs116089522
|
0.00046
|
|
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=)
|
rs150603103
|
0.00046
|
|
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)
|
rs149653283
|
0.00046
|
|
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=)
|
rs201483538
|
0.00046
|
|
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp)
|
rs754340855
|
0.00046
|
|
NM_004168.4(SDHA):c.163T>C (p.Tyr55His)
|
rs142926807
|
0.00046
|
|
NM_004260.4(RECQL4):c.1160G>T (p.Gly387Val)
|
rs369815468
|
0.00046
|
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
|
NM_004722.4(AP4M1):c.544-6T>G
|
rs372511561
|
0.00046
|
|
NM_005045.4(RELN):c.7114G>A (p.Val2372Met)
|
rs114344654
|
0.00046
|
|
NM_006086.4(TUBB3):c.1287G>A (p.Thr429=)
|
rs142238093
|
0.00046
|
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
|
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser)
|
rs151221957
|
0.00046
|
|
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)
|
rs199904356
|
0.00046
|
|
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)
|
rs201869920
|
0.00046
|
|
NM_007137.5(ZNF81):c.1539C>A (p.Leu513=)
|
rs186529018
|
0.00046
|
|
NM_007254.4(PNKP):c.672C>T (p.Arg224=)
|
rs151180981
|
0.00046
|
|
NM_007294.4(BRCA1):c.*1186A>G
|
rs552911643
|
0.00046
|
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
|
NM_014915.3(ANKRD26):c.4188T>C (p.Asp1396=)
|
rs199589035
|
0.00046
|
|
NM_016219.5(MAN1B1):c.1744C>T (p.Arg582Cys)
|
rs142406504
|
0.00046
|
|
NM_016373.4(WWOX):c.1203C>T (p.Ser401=)
|
rs201428060
|
0.00046
|
|
NM_018026.4(PACS1):c.104A>C (p.Gln35Pro)
|
rs369233658
|
0.00046
|
|
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn)
|
rs202075321
|
0.00046
|
|
NM_020066.5(FMN2):c.399C>T (p.Thr133=)
|
rs375101837
|
0.00046
|
|
NM_020699.4(GATAD2B):c.415A>G (p.Ser139Gly)
|
rs150914014
|
0.00046
|
|
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln)
|
rs138151018
|
0.00046
|
|
NM_020987.5(ANK3):c.13026C>A (p.Ser4342Arg)
|
rs148498212
|
0.00046
|
|
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)
|
rs199700538
|
0.00046
|
|
NM_025009.5(CEP135):c.1412G>A (p.Arg471Lys)
|
rs150578085
|
0.00046
|
|
NM_030787.4(CFHR5):c.232T>C (p.Ser78Pro)
|
rs146025130
|
0.00046
|
|
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met)
|
rs145353518
|
0.00046
|
|
NM_198291.3(SRC):c.875C>A (p.Thr292Asn)
|
rs111844926
|
0.00046
|
|
NM_207361.6(FREM2):c.2754C>T (p.Val918=)
|
rs140353326
|
0.00046
|
|
NM_000057.4(BLM):c.645C>T (p.Ser215=)
|
rs56218710
|
0.00045
|
|
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)
|
rs4987127
|
0.00045
|
|
NM_000179.3(MSH6):c.491A>C (p.His164Pro)
|
rs146469162
|
0.00045
|
|
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)
|
rs144933028
|
0.00045
|
|
NM_000230.3(LEP):c.15C>G (p.Thr5=)
|
rs142904532
|
0.00045
|
|
NM_000834.5(GRIN2B):c.1851C>T (p.Ser617=)
|
rs147373250
|
0.00045
|
|
NM_000969.5(RPL5):c.423C>T (p.Ala141=)
|
rs138277390
|
0.00045
|
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
|
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)
|
rs200334999
|
0.00045
|
|
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
|
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=)
|
rs116788553
|
0.00045
|
|
NM_001376.5(DYNC1H1):c.10908+10G>A
|
rs201277756
|
0.00045
|
|
NM_001429.4(EP300):c.6417C>T (p.Gly2139=)
|
rs111315183
|
0.00045
|
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
|
NM_002691.4(POLD1):c.653G>A (p.Arg218His)
|
rs150010804
|
0.00045
|
|
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu)
|
rs56400844
|
0.00045
|
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
|
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln)
|
rs575720246
|
0.00045
|
|
NM_006420.3(ARFGEF2):c.172C>T (p.Pro58Ser)
|
rs149471454
|
0.00045
|
|
NM_012156.2(EPB41L1):c.1539G>A (p.Glu513=)
|
rs45588736
|
0.00045
|
|
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=)
|
rs140929274
|
0.00045
|
|
NM_012309.5(SHANK2):c.4757C>T (p.Pro1586Leu)
|
rs141276059
|
0.00045
|
|
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=)
|
rs140377995
|
0.00045
|
|
NM_022725.4(FANCF):c.633G>T (p.Gln211His)
|
rs146975768
|
0.00045
|
|
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu)
|
rs145740834
|
0.00045
|
|
NM_173689.7(CRB2):c.2547C>T (p.Pro849=)
|
rs201242880
|
0.00045
|
|
NM_175914.5(HNF4A):c.999C>T (p.Ile333=)
|
rs150247632
|
0.00045
|
|
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr)
|
rs139643725
|
0.00045
|
|
NM_194292.3(SASS6):c.1571C>G (p.Thr524Ser)
|
rs151151974
|
0.00045
|
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00045
|
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
|
NM_000249.4(MLH1):c.1410-10T>G
|
rs372053184
|
0.00044
|
|
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys)
|
rs74315503
|
0.00044
|
|
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr)
|
rs6407
|
0.00044
|
|
NM_001083116.3(PRF1):c.368G>A (p.Arg123His)
|
rs139336186
|
0.00044
|
|
NM_001160372.4(TRAPPC9):c.2658G>A (p.Pro886=)
|
rs150252117
|
0.00044
|
|
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)
|
rs104894103
|
0.00044
|
|
NM_001283009.2(RTEL1):c.959-10C>T
|
rs202035834
|
0.00044
|
|
NM_001308093.3(GATA4):c.348C>T (p.Ser116=)
|
rs772532276
|
0.00044
|
|
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)
|
rs201818223
|
0.00044
|
|
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)
|
rs201874722
|
0.00044
|
|
NM_002017.5(FLI1):c.1177G>A (p.Ala393Thr)
|
rs139830377
|
0.00044
|
|
NM_002291.3(LAMB1):c.2691-9C>T
|
rs751631641
|
0.00044
|
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
|
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=)
|
rs62639303
|
0.00044
|
|
NM_005357.4(LIPE):c.998G>A (p.Arg333Gln)
|
rs112497256
|
0.00044
|
|
NM_006030.4(CACNA2D2):c.406-7C>T
|
rs186631992
|
0.00044
|
|
NM_006059.4(LAMC3):c.2238G>A (p.Ala746=)
|
rs141918703
|
0.00044
|
|
NM_017755.6(NSUN2):c.258C>T (p.His86=)
|
rs141912087
|
0.00044
|
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
|
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu)
|
rs148304968
|
0.00044
|
|
NM_025009.5(CEP135):c.700-10A>G
|
rs369136062
|
0.00044
|
|
NM_025099.6(CTC1):c.189C>G (p.Leu63=)
|
rs188658691
|
0.00044
|
|
NM_032444.4(SLX4):c.1707G>A (p.Pro569=)
|
rs141687678
|
0.00044
|
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
|
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val)
|
rs150321124
|
0.00043
|
|
NM_000135.4(FANCA):c.3408+9C>G
|
rs377702890
|
0.00043
|
|
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu)
|
rs146582871
|
0.00043
|
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
|
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=)
|
rs141153302
|
0.00043
|
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
|
NM_001111077.2(EZR):c.1142G>A (p.Arg381Gln)
|
rs142824813
|
0.00043
|
|
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val)
|
rs150544323
|
0.00043
|
|
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)
|
rs140676897
|
0.00043
|
|
NM_001127208.3(TET2):c.2385C>T (p.Ser795=)
|
rs112576862
|
0.00043
|
|
NM_001130969.3(NSMF):c.1401G>A (p.Gly467=)
|
rs199663813
|
0.00043
|
|
NM_001160372.4(TRAPPC9):c.44C>T (p.Thr15Met)
|
rs142839408
|
0.00043
|
|
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly)
|
rs537312655
|
0.00043
|
|
NM_001283009.2(RTEL1):c.2852-33G>C
|
rs201259542
|
0.00043
|
|
NM_001363.5(DKC1):c.-74G>A
|
rs782436792
|
0.00043
|
|
NM_003482.4(KMT2D):c.2052T>A (p.Pro684=)
|
rs200116899
|
0.00043
|
|
NM_003619.4(PRSS12):c.2376G>A (p.Arg792=)
|
rs199574216
|
0.00043
|
|
NM_004304.5(ALK):c.3057C>A (p.Val1019=)
|
rs138406372
|
0.00043
|
|
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser)
|
rs535980233
|
0.00043
|
|
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)
|
rs62640028
|
0.00043
|
|
NM_004933.3(CDH15):c.669C>A (p.Val223=)
|
rs138351924
|
0.00043
|
|
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys)
|
rs147358856
|
0.00043
|
|
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=)
|
rs143671774
|
0.00043
|
|
NM_006031.6(PCNT):c.9968-3C>T
|
rs182378192
|
0.00043
|
|
NM_006412.4(AGPAT2):c.589-2A>G
|
rs116807569
|
0.00043
|
|
NM_006420.3(ARFGEF2):c.5228T>C (p.Met1743Thr)
|
rs367994107
|
0.00043
|
|
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
|
NM_014832.5(TBC1D4):c.2154C>T (p.Tyr718=)
|
rs200600107
|
0.00043
|
|
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val)
|
rs199637319
|
0.00043
|
|
NM_015175.3(NBEAL2):c.1482G>C (p.Leu494=)
|
rs377485621
|
0.00043
|
|
NM_018451.5(CENPJ):c.600G>T (p.Gln200His)
|
rs200061825
|
0.00043
|
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
|
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)
|
rs148456883
|
0.00043
|
|
NM_031407.7(HUWE1):c.2784A>G (p.Gln928=)
|
rs148400203
|
0.00043
|
|
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)
|
rs148312697
|
0.00043
|
|
NM_173630.4(RTTN):c.2255C>T (p.Pro752Leu)
|
rs35424122
|
0.00043
|
|
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)
|
rs202116866
|
0.00043
|
|
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=)
|
rs373425206
|
0.00042
|
|
NM_000186.4(CFH):c.2077G>A (p.Asp693Asn)
|
rs148403790
|
0.00042
|
|
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)
|
rs148225281
|
0.00042
|
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
|
NM_000552.5(VWF):c.1107C>G (p.Thr369=)
|
rs149640698
|
0.00042
|
|
NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr)
|
rs78861150
|
0.00042
|
|
NM_001110792.2(MECP2):c.885C>G (p.Ala295=)
|
rs61750253
|
0.00042
|
|
NM_001111077.2(EZR):c.752A>G (p.Asn251Ser)
|
rs139467617
|
0.00042
|
|
NM_001123385.2(BCOR):c.409G>A (p.Val137Ile)
|
rs146403660
|
0.00042
|
|
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu)
|
rs143461704
|
0.00042
|
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
|
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)
|
rs200529564
|
0.00042
|
|
NM_001987.5(ETV6):c.57T>C (p.Pro19=)
|
rs147305258
|
0.00042
|
|
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)
|
rs150681693
|
0.00042
|
|
NM_004187.5(KDM5C):c.2726G>A (p.Arg909Gln)
|
rs148661902
|
0.00042
|
|
NM_005373.3(MPL):c.1197G>A (p.Arg399=)
|
rs148945299
|
0.00042
|
|
NM_005732.4(RAD50):c.260G>A (p.Arg87His)
|
rs374561375
|
0.00042
|
|
NM_006265.3(RAD21):c.1617A>G (p.Glu539=)
|
rs138040512
|
0.00042
|
|
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=)
|
rs143624283
|
0.00042
|
|
NM_012310.5(KIF4A):c.2976+10T>A
|
rs376405554
|
0.00042
|
|
NM_014159.7(SETD2):c.-8C>A
|
rs377123163
|
0.00042
|
|
NM_014915.3(ANKRD26):c.4916G>A (p.Arg1639Gln)
|
rs184369322
|
0.00042
|
|
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg)
|
rs143635917
|
0.00042
|
|
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)
|
rs199832333
|
0.00042
|
|
NM_020207.7(ERCC6L2):c.1099T>C (p.Trp367Arg)
|
rs200807189
|
0.00042
|
|
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser)
|
rs199814669
|
0.00042
|
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
|
NM_000064.4(C3):c.1731T>C (p.Pro577=)
|
rs148182019
|
0.00041
|
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
|
NM_000212.3(ITGB3):c.1570C>T (p.Arg524Trp)
|
rs145572861
|
0.00041
|
|
NM_000245.4(MET):c.3521A>G (p.His1174Arg)
|
rs372830789
|
0.00041
|
|
NM_000439.5(PCSK1):c.270A>G (p.Leu90=)
|
rs143280562
|
0.00041
|
|
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)
|
rs57307513
|
0.00041
|
|
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)
|
rs61752456
|
0.00041
|
|
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile)
|
rs147652186
|
0.00041
|
|
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser)
|
rs35874056
|
0.00041
|
|
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp)
|
rs148064542
|
0.00041
|
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
|
NM_001271938.2(MEGF8):c.6274-9C>G
|
rs373417416
|
0.00041
|
|
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp)
|
rs61738625
|
0.00041
|
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
|
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)
|
rs199550149
|
0.00041
|
|
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)
|
rs74692094
|
0.00041
|
|
NM_002519.3(NPAT):c.2548A>G (p.Ile850Val)
|
rs140098074
|
0.00041
|
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
|
NM_002894.3(RBBP8):c.228C>T (p.Thr76=)
|
rs139706715
|
0.00041
|
|
NM_003079.5(SMARCE1):c.351C>T (p.Asn117=)
|
rs149613910
|
0.00041
|
|
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile)
|
rs141777179
|
0.00041
|
|
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser)
|
rs145560772
|
0.00041
|
|
NM_004380.3(CREBBP):c.879G>A (p.Val293=)
|
rs144344016
|
0.00041
|
|
NM_004722.4(AP4M1):c.777G>A (p.Val259=)
|
rs144253083
|
0.00041
|
|
NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile)
|
rs139043855
|
0.00041
|
|
NM_006005.3(WFS1):c.2202C>T (p.Leu734=)
|
rs140427062
|
0.00041
|
|
NM_006015.6(ARID1A):c.4560C>T (p.Gly1520=)
|
rs138023869
|
0.00041
|
|
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)
|
rs138962786
|
0.00041
|
|
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr)
|
rs141635334
|
0.00041
|
|
NM_006059.4(LAMC3):c.4338G>A (p.Ala1446=)
|
rs375730811
|
0.00041
|
|
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)
|
rs149029910
|
0.00041
|
|
NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile)
|
rs145439001
|
0.00041
|
|
NM_007294.4(BRCA1):c.-106C>G
|
rs527449526
|
0.00041
|
|
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=)
|
rs142469039
|
0.00041
|
|
NM_014141.6(CNTNAP2):c.1858G>A (p.Gly620Arg)
|
rs142980731
|
0.00041
|
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
|
NM_015080.4(NRXN2):c.2441C>T (p.Ala814Val)
|
rs200231532
|
0.00041
|
|
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val)
|
rs190522911
|
0.00041
|
|
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)
|
rs141440865
|
0.00041
|
|
NM_016343.4(CENPF):c.4355A>G (p.Asn1452Ser)
|
rs140952090
|
0.00041
|
|
NM_017654.4(SAMD9):c.2854G>C (p.Gly952Arg)
|
rs201505731
|
0.00041
|
|
NM_017755.6(NSUN2):c.1226+4A>T
|
rs202085420
|
0.00041
|
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
|
NM_018013.4(SOBP):c.1382A>C (p.His461Pro)
|
rs587780464
|
0.00041
|
|
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=)
|
rs149228705
|
0.00041
|
|
NM_020461.4(TUBGCP6):c.161C>G (p.Thr54Ser)
|
rs139974572
|
0.00041
|
|
NM_020639.3(RIPK4):c.2277C>T (p.Ala759=)
|
rs201802815
|
0.00041
|
|
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
|
rs150587582
|
0.00041
|
|
NM_024747.6(HPS6):c.2250G>A (p.Ser750=)
|
rs139161525
|
0.00041
|
|
NM_024824.5(ZC3H14):c.48G>A (p.Lys16=)
|
rs199820387
|
0.00041
|
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00041
|
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
|
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)
|
rs146532299
|
0.00041
|
|
NM_032638.5(GATA2):c.1173A>G (p.Glu391=)
|
rs145076941
|
0.00041
|
|
NM_152383.5(DIS3L2):c.1722G>T (p.Glu574Asp)
|
rs191608083
|
0.00041
|
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
|
NM_173560.4(RFX6):c.165C>T (p.Gly55=)
|
rs368072920
|
0.00041
|
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
|
NM_198253.2(TERT):c.-236G>A
|
rs35265333
|
0.00041
|
|
NM_000032.5(ALAS2):c.828C>T (p.Cys276=)
|
rs73214617
|
0.00040
|
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
|
NM_001160372.4(TRAPPC9):c.814C>A (p.Gln272Lys)
|
rs144569575
|
0.00040
|
|
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile)
|
rs138771033
|
0.00040
|
|
NM_001206999.2(CIT):c.1706A>C (p.Asn569Thr)
|
rs149250142
|
0.00040
|
|
NM_001254.4(CDC6):c.897G>A (p.Thr299=)
|
rs193186571
|
0.00040
|
|
NM_001283009.2(RTEL1):c.612C>T (p.His204=)
|
rs142711955
|
0.00040
|
|
NM_001303052.2(MYT1L):c.1410G>A (p.Pro470=)
|
rs373769933
|
0.00040
|
|
NM_001378120.1(MBD5):c.471A>G (p.Thr157=)
|
rs138433455
|
0.00040
|
|
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=)
|
rs370003497
|
0.00040
|
|
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr)
|
rs202128602
|
0.00040
|
|
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)
|
rs544247912
|
0.00040
|
|
NM_001940.4(ATN1):c.1461A>G (p.Gln487=)
|
rs150855426
|
0.00040
|
|
NM_003051.4(SLC16A1):c.1414G>A (p.Gly472Arg)
|
rs72552271
|
0.00040
|
|
NM_003482.4(KMT2D):c.6235-6C>G
|
rs373858319
|
0.00040
|
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00040
|
|
NM_004426.3(PHC1):c.486C>T (p.Asn162=)
|
rs142253130
|
0.00040
|
|
NM_004830.4(MED23):c.3860A>G (p.His1287Arg)
|
rs150598354
|
0.00040
|
|
NM_005445.4(SMC3):c.2535+15T>G
|
rs3818903
|
0.00040
|
|
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=)
|
rs138543824
|
0.00040
|
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
|
NM_006420.3(ARFGEF2):c.3456T>C (p.Asp1152=)
|
rs145545997
|
0.00040
|
|
NM_006734.4(HIVEP2):c.3957C>G (p.Ala1319=)
|
rs190613471
|
0.00040
|
|
NM_007254.4(PNKP):c.627G>A (p.Glu209=)
|
rs532550120
|
0.00040
|
|
NM_012301.4(MAGI2):c.4353G>A (p.Ser1451=)
|
rs576579796
|
0.00040
|
|
NM_018013.4(SOBP):c.2268G>A (p.Lys756=)
|
rs377096838
|
0.00040
|
|
NM_018136.5(ASPM):c.1740C>G (p.Ser580Arg)
|
rs147457270
|
0.00040
|
|
NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=)
|
rs140272058
|
0.00040
|
|
NM_024884.3(L2HGDH):c.8C>T (p.Pro3Leu)
|
rs148241854
|
0.00040
|
|
NM_032531.4(KIRREL3):c.1395G>A (p.Ser465=)
|
rs138978113
|
0.00040
|
|
NM_032806.6(POMGNT2):c.239G>A (p.Arg80His)
|
rs146511234
|
0.00040
|
|
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)
|
rs201922441
|
0.00040
|
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
|
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp)
|
rs144040842
|
0.00039
|
|
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)
|
rs192317605
|
0.00039
|
|
NM_000465.4(BARD1):c.348T>C (p.His116=)
|
rs139934362
|
0.00039
|
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3])
|
rs398123469
|
0.00039
|
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
|
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)
|
rs141721605
|
0.00039
|
|
NM_001059.3(TACR3):c.824G>A (p.Trp275Ter)
|
rs144292455
|
0.00039
|
|
NM_001080517.3(SETD5):c.3944C>T (p.Thr1315Met)
|
rs202179816
|
0.00039
|
|
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=)
|
rs147904037
|
0.00039
|
|
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=)
|
rs79569204
|
0.00039
|
|
NM_001247997.2(CLIP1):c.2553A>G (p.Lys851=)
|
rs137857498
|
0.00039
|
|
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)
|
rs367622770
|
0.00039
|
|
NM_001276270.2(MBD4):c.1183+17A>G
|
rs199597858
|
0.00039
|
|
NM_001305581.2(LRMDA):c.336C>T (p.Asn112=)
|
rs199857233
|
0.00039
|
|
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
0.00039
|
|
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)
|
rs373707570
|
0.00039
|
|
NM_001972.4(ELANE):c.171C>T (p.Ala57=)
|
rs201224981
|
0.00039
|
|
NM_002025.4(AFF2):c.303T>C (p.Ser101=)
|
rs782198095
|
0.00039
|
|
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=)
|
rs139943231
|
0.00039
|
|
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)
|
rs17879258
|
0.00039
|
|
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=)
|
rs56094918
|
0.00039
|
|
NM_005120.3(MED12):c.1695T>A (p.Ile565=)
|
rs138984044
|
0.00039
|
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
|
NM_006031.6(PCNT):c.2264T>G (p.Met755Arg)
|
rs201827977
|
0.00039
|
|
NM_006059.4(LAMC3):c.514G>A (p.Gly172Ser)
|
rs149767552
|
0.00039
|
|
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)
|
rs139654605
|
0.00039
|
|
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=)
|
rs147617265
|
0.00039
|
|
NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg)
|
rs181007123
|
0.00039
|
|
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser)
|
rs201638257
|
0.00039
|
|
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)
|
rs144703991
|
0.00039
|
|
NM_016343.4(CENPF):c.635C>A (p.Ala212Asp)
|
rs141892982
|
0.00039
|
|
NM_018451.5(CENPJ):c.452A>G (p.Glu151Gly)
|
rs34177811
|
0.00039
|
|
NM_020066.5(FMN2):c.1689C>A (p.Ser563=)
|
rs141488751
|
0.00039
|
|
NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys)
|
rs151329289
|
0.00039
|
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
|
NM_022095.4(ZNF335):c.2185A>T (p.Ile729Phe)
|
rs190178539
|
0.00039
|
|
NM_024685.4(BBS10):c.957T>C (p.Val319=)
|
rs139645096
|
0.00039
|
|
NM_133444.3(ZNF526):c.1055G>A (p.Arg352Gln)
|
rs144433879
|
0.00039
|
|
NM_152703.5(SAMD9L):c.384T>C (p.Asp128=)
|
rs145025180
|
0.00039
|
|
NM_198253.3(TERT):c.1968G>A (p.Ser656=)
|
rs368784316
|
0.00039
|
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
|
NM_000197.2(HSD17B3):c.277+4A>T
|
rs201115371
|
0.00038
|
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
|
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=)
|
rs1800854
|
0.00038
|
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
|
NM_000545.8(HNF1A):c.-5G>A
|
rs370979090
|
0.00038
|
|
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu)
|
rs141776597
|
0.00038
|
|
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly)
|
rs143131218
|
0.00038
|
|
NM_001048166.1(STIL):c.467A>G (p.His156Arg)
|
rs141352790
|
0.00038
|
|
NM_001080414.4(CCDC88C):c.4621C>T (p.Arg1541Cys)
|
rs151102993
|
0.00038
|
|
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)
|
rs138663330
|
0.00038
|
|
NM_001128126.3(AP4S1):c.306+4191A>G
|
rs200969079
|
0.00038
|
|
NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=)
|
rs145607512
|
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_001346022.3(USP45):c.1253T>C (p.Ile418Thr)
|
rs143233214
|
0.00038
|
|
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=)
|
rs144957555
|
0.00038
|
|
NM_001395891.1(CLASP1):c.196-605C>T
|
rs188343279
|
0.00038
|
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
0.00038
|
|
NM_002519.3(NPAT):c.1232A>T (p.Glu411Val)
|
rs201010866
|
0.00038
|
|
NM_002582.4(PARN):c.466G>T (p.Ala156Ser)
|
rs200103366
|
0.00038
|
|
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp)
|
rs9282830
|
0.00038
|
|
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=)
|
rs141806282
|
0.00038
|
|
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu)
|
rs147706410
|
0.00038
|
|
NM_003977.4(AIP):c.36G>A (p.Gly12=)
|
rs79662690
|
0.00038
|
|
NM_004260.4(RECQL4):c.3055+5G>A
|
rs377031190
|
0.00038
|
|
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu)
|
rs146538907
|
0.00038
|
|
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)
|
rs138532294
|
0.00038
|
|
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=)
|
rs369241538
|
0.00038
|
|
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=)
|
rs149468118
|
0.00038
|
|
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val)
|
rs138254119
|
0.00038
|
|
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu)
|
rs144633170
|
0.00038
|
|
NM_006080.3(SEMA3A):c.1953G>A (p.Ala651=)
|
rs144851761
|
0.00038
|
|
NM_014915.3(ANKRD26):c.-113A>C
|
rs886046949
|
0.00038
|
|
NM_016219.5(MAN1B1):c.1287C>T (p.His429=)
|
rs145524720
|
0.00038
|
|
NM_017838.4(NHP2):c.190G>A (p.Val64Met)
|
rs79031130
|
0.00038
|
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
|
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg)
|
rs145142315
|
0.00038
|
|
NM_030632.3(ASXL3):c.3162C>T (p.Leu1054=)
|
rs369994676
|
0.00038
|
|
NM_032444.4(SLX4):c.231A>G (p.Gln77=)
|
rs143279888
|
0.00038
|
|
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys)
|
rs144614070
|
0.00038
|
|
NM_032551.5(KISS1R):c.1167C>A (p.Cys389Ter)
|
rs371771794
|
0.00038
|
|
NM_144628.4(TBC1D20):c.1143G>A (p.Ala381=)
|
rs141648576
|
0.00038
|
|
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=)
|
rs367688739
|
0.00038
|
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
|
NM_001012339.3(DNAJC21):c.222A>G (p.Lys74=)
|
rs148637112
|
0.00037
|
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
|
NM_001080414.4(CCDC88C):c.987G>A (p.Glu329=)
|
rs139506400
|
0.00037
|
|
NM_001083962.2(TCF4):c.504A>G (p.Val168=)
|
rs370160994
|
0.00037
|
|
NM_001110556.2(FLNA):c.1761G>A (p.Glu587=)
|
rs377261686
|
0.00037
|
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
|
NM_001145306.2(CDK6):c.846A>G (p.Thr282=)
|
rs55860121
|
0.00037
|
|
NM_001184.4(ATR):c.2946C>T (p.Phe982=)
|
rs138061993
|
0.00037
|
|
NM_001184.4(ATR):c.6023G>T (p.Arg2008Leu)
|
rs145569221
|
0.00037
|
|
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu)
|
rs200902828
|
0.00037
|
|
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)
|
rs201047107
|
0.00037
|
|
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=)
|
rs146053295
|
0.00037
|
|
NM_001353108.3(CEP63):c.1620G>A (p.Arg540=)
|
rs140668390
|
0.00037
|
|
NM_001364905.1(LRBA):c.8517C>T (p.Asn2839=)
|
rs145690847
|
0.00037
|
|
NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=)
|
rs150374820
|
0.00037
|
|
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734
|
0.00037
|
|
NM_001987.5(ETV6):c.496G>A (p.Val166Met)
|
rs142603082
|
0.00037
|
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
|
NM_004656.4(BAP1):c.288G>A (p.Leu96=)
|
rs117382883
|
0.00037
|
|
NM_004933.3(CDH15):c.2146A>G (p.Asn716Asp)
|
rs147397532
|
0.00037
|
|
NM_004991.4(MECOM):c.3636A>C (p.Thr1212=)
|
rs148539966
|
0.00037
|
|
NM_005219.5(DIAPH1):c.3574+10G>A
|
rs200327015
|
0.00037
|
|
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=)
|
rs375212345
|
0.00037
|
|
NM_006947.4(SRP72):c.1698T>C (p.Tyr566=)
|
rs145347209
|
0.00037
|
|
NM_014875.3(KIF14):c.3274A>G (p.Met1092Val)
|
rs142824342
|
0.00037
|
|
NM_014915.3(ANKRD26):c.4490T>A (p.Val1497Asp)
|
rs149647444
|
0.00037
|
|
NM_018648.4(NOP10):c.55-9C>T
|
rs72720799
|
0.00037
|
|
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp)
|
rs370085077
|
0.00037
|
|
NM_024596.5(MCPH1):c.1894A>G (p.Lys632Glu)
|
rs377464331
|
0.00037
|
|
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg)
|
rs41313952
|
0.00037
|
|
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe)
|
rs202097247
|
0.00037
|
|
NM_031466.8(TRAPPC9):c.-135A>G
|
rs148523016
|
0.00037
|
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
|
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=)
|
rs148654588
|
0.00037
|
|
NM_173630.4(RTTN):c.5916G>C (p.Gln1972His)
|
rs201267273
|
0.00037
|
|
NM_175914.4(HNF4A):c.-129T>C
|
rs541483698
|
0.00037
|
|
NM_198428.3(BBS9):c.2322C>T (p.Ala774=)
|
rs145435891
|
0.00037
|
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
|
NM_000208.4(INSR):c.2293G>A (p.Gly765Ser)
|
rs146698985
|
0.00036
|
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
|
NM_000545.8(HNF1A):c.336G>A (p.Pro112=)
|
rs371365341
|
0.00036
|
|
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp)
|
rs138272660
|
0.00036
|
|
NM_000550.3(TYRP1):c.457C>T (p.Arg153Cys)
|
rs146027807
|
0.00036
|
|
NM_000751.3(CHRND):c.44C>T (p.Ala15Val)
|
rs142531974
|
0.00036
|
|
NM_000760.4(CSF3R):c.93C>T (p.Val31=)
|
rs150277708
|
0.00036
|
|
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)
|
rs149917909
|
0.00036
|
|
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu)
|
rs147255018
|
0.00036
|
|
NM_001040616.3(LINS1):c.1479T>C (p.Cys493=)
|
rs144513217
|
0.00036
|
|
NM_001247997.2(CLIP1):c.2571A>G (p.Lys857=)
|
rs34177347
|
0.00036
|
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
|
NM_001276270.2(MBD4):c.31C>T (p.Leu11=)
|
rs2307297
|
0.00036
|
|
NM_001363.5(DKC1):c.-70C>G
|
rs900389845
|
0.00036
|
|
NM_001364905.1(LRBA):c.3009T>A (p.Ser1003=)
|
rs149919062
|
0.00036
|
|
NM_001365276.2(TNXB):c.9255C>G (p.Gly3085=)
|
rs368339464
|
0.00036
|
|
NM_001374828.1(ARID1B):c.927C>T (p.Ala309=)
|
rs1450163641
|
0.00036
|
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
|
NM_001626.6(AKT2):c.204G>A (p.Pro68=)
|
rs139479466
|
0.00036
|
|
NM_001807.6(CEL):c.347G>A (p.Arg116Gln)
|
rs199675811
|
0.00036
|
|
NM_002025.4(AFF2):c.2780G>A (p.Arg927His)
|
rs140927355
|
0.00036
|
|
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)
|
rs200069356
|
0.00036
|
|
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=)
|
rs202136878
|
0.00036
|
|
NM_003282.4(TNNI2):c.54G>C (p.Leu18=)
|
rs181679318
|
0.00036
|
|
NM_003383.5(VLDLR):c.792C>T (p.Cys264=)
|
rs141850403
|
0.00036
|
|
NM_004247.4(EFTUD2):c.1698C>T (p.Thr566=)
|
rs187284437
|
0.00036
|
|
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu)
|
rs550469990
|
0.00036
|
|
NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met)
|
rs142403193
|
0.00036
|
|
NM_005188.4(CBL):c.12C>T (p.Asn4=)
|
rs371567712
|
0.00036
|
|
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)
|
rs150811339
|
0.00036
|
|
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp)
|
rs201926295
|
0.00036
|
|
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn)
|
rs201526436
|
0.00036
|
|
NM_006206.6(PDGFRA):c.2871A>G (p.Gln957=)
|
rs752373446
|
0.00036
|
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
|
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile)
|
rs201881288
|
0.00036
|
|
NM_015214.3(DDHD2):c.1130C>T (p.Ser377Leu)
|
rs145943165
|
0.00036
|
|
NM_017654.4(SAMD9):c.*8A>G
|
rs146843559
|
0.00036
|
|
NM_018062.4(FANCL):c.534A>G (p.Thr178=)
|
rs151181785
|
0.00036
|
|
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=)
|
rs142587742
|
0.00036
|
|
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys)
|
rs145679691
|
0.00036
|
|
NM_020975.6(RET):c.200G>A (p.Arg67His)
|
rs192489011
|
0.00036
|
|
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His)
|
rs144465058
|
0.00036
|
|
NM_021008.4(DEAF1):c.855C>T (p.Cys285=)
|
rs373861624
|
0.00036
|
|
NM_022095.4(ZNF335):c.1217T>G (p.Val406Gly)
|
rs141949131
|
0.00036
|
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
|
NM_024426.6(WT1):c.216G>T (p.Gln72His)
|
rs5030135
|
0.00036
|
|
NM_030632.3(ASXL3):c.1890G>A (p.Gly630=)
|
rs372179902
|
0.00036
|
|
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)
|
rs147492092
|
0.00036
|
|
NM_133433.4(NIPBL):c.198C>G (p.Val66=)
|
rs146033170
|
0.00036
|
|
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg)
|
rs142144659
|
0.00036
|
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
|
NM_000208.4(INSR):c.151G>A (p.Glu51Lys)
|
rs140852238
|
0.00035
|
|
NM_000222.3(KIT):c.821C>T (p.Thr274Met)
|
rs138585275
|
0.00035
|
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
|
NM_000276.4(OCRL):c.954C>T (p.Arg318=)
|
rs149646700
|
0.00035
|
|
NM_000540.3(RYR1):c.2658C>T (p.Ile886=)
|
rs148094797
|
0.00035
|
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
|
NM_000751.3(CHRND):c.946G>A (p.Gly316Ser)
|
rs139190636
|
0.00035
|
|
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)
|
rs201991587
|
0.00035
|
|
NM_001083116.3(PRF1):c.1140G>A (p.Pro380=)
|
rs144926997
|
0.00035
|
|
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=)
|
rs757294519
|
0.00035
|
|
NM_001110792.2(MECP2):c.312A>G (p.Gly104=)
|
rs140191561
|
0.00035
|
|
NM_001111077.2(EZR):c.1062T>C (p.Tyr354=)
|
rs78196406
|
0.00035
|
|
NM_001160372.4(TRAPPC9):c.3237C>T (p.Asp1079=)
|
rs144880704
|
0.00035
|
|
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)
|
rs201714437
|
0.00035
|
|
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)
|
rs146782397
|
0.00035
|
|
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=)
|
rs116502880
|
0.00035
|
|
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=)
|
rs112536447
|
0.00035
|
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
|
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)
|
rs142816010
|
0.00035
|
|
NM_002472.3(MYH8):c.5113G>A (p.Ala1705Thr)
|
rs143448404
|
0.00035
|
|
NM_003051.4(SLC16A1):c.1063G>A (p.Gly355Arg)
|
rs140728650
|
0.00035
|
|
NM_004656.4(BAP1):c.1035G>C (p.Gly345=)
|
rs369744075
|
0.00035
|
|
NM_005026.5(PIK3CD):c.2265G>A (p.Lys755=)
|
rs139778709
|
0.00035
|
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
|
NM_005475.3(SH2B3):c.464C>T (p.Pro155Leu)
|
rs531156627
|
0.00035
|
|
NM_005573.4(LMNB1):c.123C>T (p.Asp41=)
|
rs576708983
|
0.00035
|
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
|
NM_006947.4(SRP72):c.789A>G (p.Leu263=)
|
rs77935196
|
0.00035
|
|
NM_007347.5(AP4E1):c.1566C>G (p.Ser522=)
|
rs78870657
|
0.00035
|
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
|
NM_013275.6(ANKRD11):c.6797C>T (p.Ala2266Val)
|
rs748996527
|
0.00035
|
|
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=)
|
rs141439475
|
0.00035
|
|
NM_015450.3(POT1):c.846C>T (p.Asn282=)
|
rs142704514
|
0.00035
|
|
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)
|
rs145867327
|
0.00035
|
|
NM_017654.4(SAMD9):c.2367G>A (p.Gln789=)
|
rs149202937
|
0.00035
|
|
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser)
|
rs201319489
|
0.00035
|
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
|
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr)
|
rs138641637
|
0.00035
|
|
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=)
|
rs146744659
|
0.00035
|
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
|
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)
|
rs36086547
|
0.00035
|
|
NM_138422.4(ADAT3):c.1069G>C (p.Glu357Gln)
|
rs200437566
|
0.00035
|
|
NM_194292.3(SASS6):c.1773-4T>G
|
rs372605834
|
0.00035
|
|
NM_198253.3(TERT):c.2775C>T (p.His925=)
|
rs34528119
|
0.00035
|
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
|
NM_001012339.3(DNAJC21):c.932A>G (p.Tyr311Cys)
|
rs141348854
|
0.00034
|
|
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=)
|
rs371915501
|
0.00034
|
|
NM_001018115.3(FANCD2):c.3466+10C>T
|
rs200208121
|
0.00034
|
|
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)
|
rs142777869
|
0.00034
|
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
|
NM_001110792.2(MECP2):c.978C>T (p.Ile326=)
|
rs61751446
|
0.00034
|
|
NM_001127392.3(MYRF):c.1269C>T (p.Leu423=)
|
rs143059056
|
0.00034
|
|
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg)
|
rs145918825
|
0.00034
|
|
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln)
|
rs145503551
|
0.00034
|
|
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe)
|
rs145138194
|
0.00034
|
|
NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)
|
rs201981364
|
0.00034
|
|
NM_001330574.2(ZNF711):c.1464C>T (p.Val488=)
|
rs140843429
|
0.00034
|
|
NM_001353108.3(CEP63):c.1596G>A (p.Gln532=)
|
rs149211765
|
0.00034
|
|
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)
|
rs145475623
|
0.00034
|
|
NM_001715.3(BLK):c.879C>T (p.His293=)
|
rs142623841
|
0.00034
|
|
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)
|
rs146396982
|
0.00034
|
|
NM_004260.4(RECQL4):c.2724T>C (p.Leu908=)
|
rs368908286
|
0.00034
|
|
NM_004456.5(EZH2):c.657T>C (p.Pro219=)
|
rs148843424
|
0.00034
|
|
NM_005045.4(RELN):c.1483A>G (p.Ile495Val)
|
rs150850005
|
0.00034
|
|
NM_005677.4(COLQ):c.561C>T (p.Ser187=)
|
rs149370622
|
0.00034
|
|
NM_005886.3(KATNB1):c.1230C>T (p.Asp410=)
|
rs142508811
|
0.00034
|
|
NM_006180.6(NTRK2):c.1195+9C>T
|
rs201773066
|
0.00034
|
|
NM_006420.3(ARFGEF2):c.2815-7G>A
|
rs187176143
|
0.00034
|
|
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=)
|
rs142692907
|
0.00034
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
|
NM_012233.3(RAB3GAP1):c.1226C>T (p.Thr409Ile)
|
rs149010855
|
0.00034
|
|
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)
|
rs200092283
|
0.00034
|
|
NM_016111.4(TELO2):c.1204G>A (p.Val402Met)
|
rs146959869
|
0.00034
|
|
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)
|
rs150473213
|
0.00034
|
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
|
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp)
|
rs201845154
|
0.00034
|
|
NM_017838.4(NHP2):c.369C>T (p.Pro123=)
|
rs375285426
|
0.00034
|
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
|
NM_018122.5(DARS2):c.492+2T>C
|
rs142433332
|
0.00034
|
|
NM_018249.6(CDK5RAP2):c.519C>T (p.Ala173=)
|
rs139736411
|
0.00034
|
|
NM_020921.4(NIN):c.3647G>A (p.Arg1216Gln)
|
rs192017781
|
0.00034
|
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
|
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)
|
rs149692177
|
0.00034
|
|
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser)
|
rs184814386
|
0.00034
|
|
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu)
|
rs144949902
|
0.00034
|
|
NM_025009.5(CEP135):c.1744A>G (p.Met582Val)
|
rs144041768
|
0.00034
|
|
NM_030632.3(ASXL3):c.1925C>T (p.Pro642Leu)
|
rs189786599
|
0.00034
|
|
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)
|
rs138484365
|
0.00034
|
|
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
|
rs143820618
|
0.00034
|
|
NM_144508.5(KNL1):c.3749C>T (p.Ala1250Val)
|
rs115132152
|
0.00034
|
|
NM_144628.4(TBC1D20):c.766G>A (p.Val256Met)
|
rs145450605
|
0.00034
|
|
NM_145207.3(AFG2A):c.1616G>T (p.Arg539Met)
|
rs74991481
|
0.00034
|
|
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=)
|
rs767239312
|
0.00034
|
|
NM_153033.5(KCTD7):c.273C>T (p.Ser91=)
|
rs139585796
|
0.00034
|
|
NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe)
|
rs114184584
|
0.00034
|
|
NM_201384.3(PLEC):c.6162C>T (p.His2054=)
|
rs563719398
|
0.00034
|
|
NM_000136.3(FANCC):c.*5C>T
|
rs117175949
|
0.00033
|
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
|
NM_000552.5(VWF):c.874+7C>T
|
rs201187598
|
0.00033
|
|
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)
|
rs34830702
|
0.00033
|
|
NM_001080517.3(SETD5):c.2006G>C (p.Gly669Ala)
|
rs199595728
|
0.00033
|
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
|
NM_001206999.2(CIT):c.3039C>G (p.Ser1013=)
|
rs139602765
|
0.00033
|
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
|
NM_001364905.1(LRBA):c.3407C>T (p.Pro1136Leu)
|
rs113022115
|
0.00033
|
|
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His)
|
rs148014419
|
0.00033
|
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
|
NM_005045.4(RELN):c.877G>A (p.Asp293Asn)
|
rs200289289
|
0.00033
|
|
NM_005045.4(RELN):c.9825C>T (p.Ser3275=)
|
rs149713137
|
0.00033
|
|
NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=)
|
rs140978841
|
0.00033
|
|
NM_006910.5(RBBP6):c.4547G>A (p.Arg1516Lys)
|
rs139299941
|
0.00033
|
|
NM_007254.4(PNKP):c.876A>G (p.Gly292=)
|
rs3739199
|
0.00033
|
|
NM_012233.3(RAB3GAP1):c.217T>G (p.Ser73Ala)
|
rs372673436
|
0.00033
|
|
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu)
|
rs149700024
|
0.00033
|
|
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr)
|
rs767821521
|
0.00033
|
|
NM_017654.4(SAMD9):c.2845G>T (p.Ala949Ser)
|
rs151038564
|
0.00033
|
|
NM_020987.5(ANK3):c.6067G>A (p.Ala2023Thr)
|
rs146929899
|
0.00033
|
|
NM_152703.5(SAMD9L):c.4491T>C (p.Phe1497=)
|
rs200166375
|
0.00033
|
|
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg)
|
rs58750568
|
0.00033
|
|
NM_000051.4(ATM):c.103C>A (p.Arg35=)
|
rs55861249
|
0.00032
|
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
|
NM_000081.4(LYST):c.4863-4G>A
|
rs201382097
|
0.00032
|
|
NM_000141.5(FGFR2):c.1986+7C>T
|
rs199697707
|
0.00032
|
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00032
|
|
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly)
|
rs200377867
|
0.00032
|
|
NM_000552.5(VWF):c.6937C>T (p.Arg2313Cys)
|
rs184921605
|
0.00032
|
|
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)
|
rs184769423
|
0.00032
|
|
NM_001160372.4(TRAPPC9):c.564A>G (p.Val188=)
|
rs150743393
|
0.00032
|
|
NM_001161352.2(KCNMA1):c.90C>T (p.His30=)
|
rs75040504
|
0.00032
|
|
NM_001191061.2(SLC25A22):c.413-8G>C
|
rs376015598
|
0.00032
|
|
NM_001194998.2(CEP152):c.1565C>G (p.Ser522Cys)
|
rs376452872
|
0.00032
|
|
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser)
|
rs149495971
|
0.00032
|
|
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=)
|
rs188479221
|
0.00032
|
|
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=)
|
rs61736622
|
0.00032
|
|
NM_001318510.2(ACSL4):c.1856-9T>C
|
rs201456393
|
0.00032
|
|
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=)
|
rs200728478
|
0.00032
|
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468
|
0.00032
|
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
|
NM_001382391.1(CSPP1):c.*6A>G
|
rs372265885
|
0.00032
|
|
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)
|
rs143396225
|
0.00032
|
|
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys)
|
rs147657490
|
0.00032
|
|
NM_005359.6(SMAD4):c.102A>G (p.Thr34=)
|
rs146104321
|
0.00032
|
|
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)
|
rs374163604
|
0.00032
|
|
NM_006031.6(PCNT):c.506G>A (p.Arg169His)
|
rs61735823
|
0.00032
|
|
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu)
|
rs147670568
|
0.00032
|
|
NM_006031.6(PCNT):c.8672C>T (p.Ala2891Val)
|
rs144963695
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00032
|
|
NM_015192.4(PLCB1):c.3643C>T (p.Pro1215Ser)
|
rs138077430
|
0.00032
|
|
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter)
|
rs200353633
|
0.00032
|
|
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp)
|
rs138435584
|
0.00032
|
|
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala)
|
rs41306027
|
0.00032
|
|
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu)
|
rs142904668
|
0.00032
|
|
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp)
|
rs199698527
|
0.00032
|
|
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
|
NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg)
|
rs200751676
|
0.00032
|
|
NM_173495.3(PTCHD1):c.336C>T (p.Thr112=)
|
rs369975097
|
0.00032
|
|
NM_198525.3(KIF7):c.516G>A (p.Glu172=)
|
rs199959946
|
0.00032
|
|
NM_207361.6(FREM2):c.181G>C (p.Ala61Pro)
|
rs553605556
|
0.00032
|
|
NM_000038.6(APC):c.4905G>A (p.Gly1635=)
|
rs137988845
|
0.00031
|
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
|
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)
|
rs200603300
|
0.00031
|
|
NM_000195.5(HPS1):c.15G>C (p.Leu5Phe)
|
rs146695034
|
0.00031
|
|
NM_000233.4(LHCGR):c.161+9A>G
|
rs573699597
|
0.00031
|
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
|
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)
|
rs373524969
|
0.00031
|
|
NM_000551.3(VHL):c.-73C>T
|
rs1034934219
|
0.00031
|
|
NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys)
|
rs747865842
|
0.00031
|
|
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=)
|
rs147426418
|
0.00031
|
|
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn)
|
rs142662151
|
0.00031
|
|
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr)
|
rs202104741
|
0.00031
|
|
NM_001083961.2(WDR62):c.2211-8C>T
|
rs369077520
|
0.00031
|
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
|
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala)
|
rs782357394
|
0.00031
|
|
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr)
|
rs139181400
|
0.00031
|
|
NM_001247997.2(CLIP1):c.3336C>T (p.Thr1112=)
|
rs201714257
|
0.00031
|
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
|
NM_001283009.2(RTEL1):c.3080C>T (p.Pro1027Leu)
|
rs141782041
|
0.00031
|
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
|
NM_002049.4(GATA1):c.113C>T (p.Pro38Leu)
|
rs372131208
|
0.00031
|
|
NM_002049.4(GATA1):c.174G>A (p.Ala58=)
|
rs139614533
|
0.00031
|
|
NM_002435.3(MPI):c.214A>C (p.Ser72Arg)
|
rs146699267
|
0.00031
|
|
NM_003356.4(UCP3):c.366C>T (p.Ala122=)
|
rs140869187
|
0.00031
|
|
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)
|
rs530569305
|
0.00031
|
|
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)
|
rs149924028
|
0.00031
|
|
NM_004426.3(PHC1):c.2238A>G (p.Gly746=)
|
rs149376854
|
0.00031
|
|
NM_004523.4(KIF11):c.77+5G>C
|
rs200188195
|
0.00031
|
|
NM_004656.4(BAP1):c.1962A>C (p.Val654=)
|
rs148624125
|
0.00031
|
|
NM_005188.4(CBL):c.1287C>T (p.Ile429=)
|
rs148368481
|
0.00031
|
|
NM_005228.5(EGFR):c.241-8C>G
|
rs138872748
|
0.00031
|
|
NM_005334.3(HCFC1):c.717C>G (p.Thr239=)
|
rs372516617
|
0.00031
|
|
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=)
|
rs200122106
|
0.00031
|
|
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp)
|
rs202246527
|
0.00031
|
|
NM_006031.6(PCNT):c.8835C>T (p.Asp2945=)
|
rs146875945
|
0.00031
|
|
NM_006086.4(TUBB3):c.167-6C>T
|
rs144873806
|
0.00031
|
|
NM_006412.4(AGPAT2):c.229C>T (p.Arg77Cys)
|
rs151053652
|
0.00031
|
|
NM_006420.3(ARFGEF2):c.2940C>T (p.Thr980=)
|
rs41296217
|
0.00031
|
|
NM_006420.3(ARFGEF2):c.756C>T (p.Asn252=)
|
rs114729625
|
0.00031
|
|
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met)
|
rs181216956
|
0.00031
|
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
|
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr)
|
rs144078604
|
0.00031
|
|
NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp)
|
rs143991928
|
0.00031
|
|
NM_014444.5(TUBGCP4):c.368A>G (p.Asn123Ser)
|
rs188822226
|
0.00031
|
|
NM_014915.3(ANKRD26):c.599A>G (p.Lys200Arg)
|
rs150623081
|
0.00031
|
|
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)
|
rs144594804
|
0.00031
|
|
NM_015910.7(WDPCP):c.1813-27A>G
|
rs537344300
|
0.00031
|
|
NM_016222.4(DDX41):c.465G>A (p.Met155Ile)
|
rs199697328
|
0.00031
|
|
NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile)
|
rs147587391
|
0.00031
|
|
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn)
|
rs142537154
|
0.00031
|
|
NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr)
|
rs142214506
|
0.00031
|
|
NM_018249.6(CDK5RAP2):c.5649A>G (p.Pro1883=)
|
rs199736016
|
0.00031
|
|
NM_020207.7(ERCC6L2):c.3416G>A (p.Arg1139Gln)
|
rs370115465
|
0.00031
|
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
|
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly)
|
rs147540469
|
0.00031
|
|
NM_025099.6(CTC1):c.1207-4C>T
|
rs369904656
|
0.00031
|
|
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr)
|
rs144647122
|
0.00031
|
|
NM_133444.3(ZNF526):c.1981G>A (p.Gly661Arg)
|
rs143303371
|
0.00031
|
|
NM_139027.6(ADAMTS13):c.3849C>T (p.Ile1283=)
|
rs377686931
|
0.00031
|
|
NM_152722.5(HEPACAM):c.591C>T (p.Pro197=)
|
rs201011094
|
0.00031
|
|
NM_181523.3(PIK3R1):c.1020-3C>T
|
rs200653607
|
0.00031
|
|
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly)
|
rs144643941
|
0.00031
|
|
NM_198253.3(TERT):c.1932G>A (p.Thr644=)
|
rs148582238
|
0.00031
|
|
NM_198576.4(AGRN):c.2796C>T (p.Asn932=)
|
rs147153797
|
0.00031
|
|
NM_000022.4(ADA):c.384G>A (p.Glu128=)
|
rs572092463
|
0.00030
|
|
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val)
|
rs143995220
|
0.00030
|
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
|
NM_000212.3(ITGB3):c.285C>T (p.Leu95=)
|
rs151121691
|
0.00030
|
|
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr)
|
rs199960807
|
0.00030
|
|
NM_001083961.2(WDR62):c.3589C>A (p.Pro1197Thr)
|
rs375708869
|
0.00030
|
|
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)
|
rs192423622
|
0.00030
|
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00030
|
|
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=)
|
rs375503410
|
0.00030
|
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226
|
0.00030
|
|
NM_002691.4(POLD1):c.714G>A (p.Thr238=)
|
rs149096523
|
0.00030
|
|
NM_002834.5(PTPN11):c.643-6dup
|
rs758889732
|
0.00030
|
|
NM_003482.4(KMT2D):c.5952C>A (p.Pro1984=)
|
rs587783721
|
0.00030
|
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
|
NM_004933.3(CDH15):c.1722T>G (p.Pro574=)
|
rs150055194
|
0.00030
|
|
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln)
|
rs796052453
|
0.00030
|
|
NM_005357.4(LIPE):c.2429G>A (p.Arg810Gln)
|
rs150433777
|
0.00030
|
|
NM_006231.4(POLE):c.6795C>T (p.Tyr2265=)
|
rs142222159
|
0.00030
|
|
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)
|
rs371839994
|
0.00030
|
|
NM_014832.5(TBC1D4):c.713A>C (p.Lys238Thr)
|
rs200446215
|
0.00030
|
|
NM_016343.4(CENPF):c.6026T>C (p.Val2009Ala)
|
rs202092147
|
0.00030
|
|
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp)
|
rs376443152
|
0.00030
|
|
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164
|
0.00030
|
|
NM_020779.4(WDR35):c.2964+10C>A
|
rs201207790
|
0.00030
|
|
NM_020987.5(ANK3):c.2173G>A (p.Ala725Thr)
|
rs144051466
|
0.00030
|
|
NM_024824.5(ZC3H14):c.1432G>A (p.Val478Ile)
|
rs143129413
|
0.00030
|
|
NM_030928.4(CDT1):c.229-7C>G
|
rs371658696
|
0.00030
|
|
NM_030928.4(CDT1):c.855G>A (p.Gln285=)
|
rs142859474
|
0.00030
|
|
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val)
|
rs376308074
|
0.00030
|
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
|
NM_198253.3(TERT):c.2991G>A (p.Val997=)
|
rs376266401
|
0.00030
|
|
NM_198253.3(TERT):c.3333G>A (p.Thr1111=)
|
rs200102606
|
0.00030
|
|
NM_203447.4(DOCK8):c.828-7A>G
|
rs200243583
|
0.00030
|
|
NM_212550.5(BLOC1S3):c.600G>A (p.Pro200=)
|
rs145239205
|
0.00030
|
|
NM_000022.4(ADA):c.975+8G>A
|
rs192148185
|
0.00029
|
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
|
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)
|
rs372456815
|
0.00029
|
|
NM_000061.3(BTK):c.1252T>C (p.Tyr418His)
|
rs144079566
|
0.00029
|
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
|
NM_000207.3(INS):c.188-114G>T
|
rs529554227
|
0.00029
|
|
NM_000222.3(KIT):c.504G>A (p.Ala168=)
|
rs140469176
|
0.00029
|
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
|
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)
|
rs62635032
|
0.00029
|
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
|
NM_000377.3(WAS):c.873C>T (p.Tyr291=)
|
rs149123892
|
0.00029
|
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
|
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=)
|
rs139507276
|
0.00029
|
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
|
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)
|
rs61751578
|
0.00029
|
|
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
|
rs143477104
|
0.00029
|
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
|
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)
|
rs61745604
|
0.00029
|
|
NM_001110556.2(FLNA):c.2023-8C>T
|
rs587780335
|
0.00029
|
|
NM_001111077.2(EZR):c.1598C>T (p.Thr533Met)
|
rs146254762
|
0.00029
|
|
NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=)
|
rs146235874
|
0.00029
|
|
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn)
|
rs34181302
|
0.00029
|
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
|
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=)
|
rs201688876
|
0.00029
|
|
NM_001184.4(ATR):c.2205C>T (p.His735=)
|
rs148955716
|
0.00029
|
|
NM_001184.4(ATR):c.3581+5A>G
|
rs369917154
|
0.00029
|
|
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro)
|
rs202237336
|
0.00029
|
|
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=)
|
rs190021597
|
0.00029
|
|
NM_001267550.2(TTN):c.52008C>G (p.Val17336=)
|
rs144507270
|
0.00029
|
|
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser)
|
rs143043614
|
0.00029
|
|
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)
|
rs143992148
|
0.00029
|
|
NM_001347721.2(DYRK1A):c.1365C>A (p.Pro455=)
|
rs745311187
|
0.00029
|
|
NM_001349338.3(FOXP1):c.855T>G (p.Thr285=)
|
rs141007926
|
0.00029
|
|
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)
|
rs398122391
|
0.00029
|
|
NM_001382347.1(MYO5A):c.852C>G (p.Asn284Lys)
|
rs370600193
|
0.00029
|
|
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)
|
rs188035979
|
0.00029
|
|
NM_001813.3(CENPE):c.435C>T (p.Gly145=)
|
rs187538280
|
0.00029
|
|
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val)
|
rs200676965
|
0.00029
|
|
NM_002470.4(MYH3):c.376G>C (p.Val126Leu)
|
rs201787435
|
0.00029
|
|
NM_002519.3(NPAT):c.*1003A>G
|
rs556765145
|
0.00029
|
|
NM_002519.3(NPAT):c.2063C>T (p.Thr688Met)
|
rs199837111
|
0.00029
|
|
NM_002519.3(NPAT):c.3674C>T (p.Thr1225Ile)
|
rs201589987
|
0.00029
|
|
NM_002948.5(RPL15):c.282T>C (p.Phe94=)
|
rs143514719
|
0.00029
|
|
NM_003482.4(KMT2D):c.7545C>T (p.Pro2515=)
|
rs373469160
|
0.00029
|
|
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg)
|
rs1013724730
|
0.00029
|
|
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040
|
0.00029
|
|
NM_005045.4(RELN):c.5796C>T (p.Asn1932=)
|
rs200299096
|
0.00029
|
|
NM_005045.4(RELN):c.8843+3A>C
|
rs200124755
|
0.00029
|
|
NM_005249.5(FOXG1):c.201G>T (p.Pro67=)
|
rs587780944
|
0.00029
|
|
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=)
|
rs377467572
|
0.00029
|
|
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)
|
rs148028521
|
0.00029
|
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
|
NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=)
|
rs146598030
|
0.00029
|
|
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser)
|
rs139576809
|
0.00029
|
|
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu)
|
rs148389745
|
0.00029
|
|
NM_006231.4(POLE):c.5496T>C (p.Leu1832=)
|
rs147543146
|
0.00029
|
|
NM_006265.3(RAD21):c.735C>T (p.Pro245=)
|
rs199767556
|
0.00029
|
|
NM_006765.4(TUSC3):c.768T>C (p.Tyr256=)
|
rs149033081
|
0.00029
|
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
|
NM_014009.3(FOXP3):c.-353G>C
|
rs782180627
|
0.00029
|
|
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=)
|
rs74354654
|
0.00029
|
|
NM_014915.3(ANKRD26):c.2697+9A>G
|
rs370796881
|
0.00029
|
|
NM_015080.4(NRXN2):c.4847G>T (p.Gly1616Val)
|
rs377164316
|
0.00029
|
|
NM_015214.3(DDHD2):c.558G>A (p.Thr186=)
|
rs149994413
|
0.00029
|
|
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)
|
rs200428790
|
0.00029
|
|
NM_016373.4(WWOX):c.552C>T (p.Leu184=)
|
rs199715254
|
0.00029
|
|
NM_017757.3(ZNF407):c.3717C>T (p.Asp1239=)
|
rs201823505
|
0.00029
|
|
NM_017757.3(ZNF407):c.5737G>A (p.Ala1913Thr)
|
rs17056248
|
0.00029
|
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
|
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)
|
rs201083157
|
0.00029
|
|
NM_018013.4(SOBP):c.1747T>C (p.Ser583Pro)
|
rs760532040
|
0.00029
|
|
NM_018026.4(PACS1):c.2294-7_2294-6del
|
rs534796219
|
0.00029
|
|
NM_018036.7(ATG2B):c.5278A>G (p.Lys1760Glu)
|
rs150055658
|
0.00029
|
|
NM_018136.5(ASPM):c.937A>G (p.Ile313Val)
|
rs12025066
|
0.00029
|
|
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys)
|
rs137966123
|
0.00029
|
|
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter)
|
rs202058504
|
0.00029
|
|
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)
|
rs558778286
|
0.00029
|
|
NM_020461.4(TUBGCP6):c.5013C>T (p.His1671=)
|
rs146637907
|
0.00029
|
|
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys)
|
rs146151355
|
0.00029
|
|
NM_020987.5(ANK3):c.864C>T (p.Leu288=)
|
rs145971956
|
0.00029
|
|
NM_020987.5(ANK3):c.8884G>A (p.Val2962Ile)
|
rs145256821
|
0.00029
|
|
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln)
|
rs138546275
|
0.00029
|
|
NM_024649.5(BBS1):c.1695+10G>A
|
rs200276861
|
0.00029
|
|
NM_024757.5(EHMT1):c.576G>A (p.Pro192=)
|
rs574514175
|
0.00029
|
|
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser)
|
rs183556317
|
0.00029
|
|
NM_030632.3(ASXL3):c.2342C>T (p.Pro781Leu)
|
rs201776257
|
0.00029
|
|
NM_031885.5(BBS2):c.-2T>G
|
rs111296910
|
0.00029
|
|
NM_032444.4(SLX4):c.2210G>A (p.Arg737His)
|
rs146901714
|
0.00029
|
|
NM_138501.6(TECR):c.117C>T (p.Thr39=)
|
rs145931907
|
0.00029
|
|
NM_148919.4(PSMB8):c.*6G>C
|
rs371747700
|
0.00029
|
|
NM_173630.4(RTTN):c.2355T>C (p.Ser785=)
|
rs200600259
|
0.00029
|
|
NM_176824.3(BBS7):c.1158A>G (p.Thr386=)
|
rs146617227
|
0.00029
|
|
NM_181507.2(HPS5):c.85C>A (p.Arg29=)
|
rs138638048
|
0.00029
|
|
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His)
|
rs75665958
|
0.00029
|
|
NM_182914.3(SYNE2):c.3641T>A (p.Met1214Lys)
|
rs201166748
|
0.00029
|
|
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=)
|
rs117423703
|
0.00029
|
|
NM_198253.3(TERT):c.2520G>A (p.Leu840=)
|
rs144310369
|
0.00029
|
|
NM_199242.3(UNC13D):c.972C>T (p.Asp324=)
|
rs368990813
|
0.00029
|
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
|
NM_000222.3(KIT):c.1594G>A (p.Val532Ile)
|
rs55792975
|
0.00028
|
|
NM_000233.4(LHCGR):c.561A>G (p.Glu187=)
|
rs369601921
|
0.00028
|
|
NM_000377.3(WAS):c.1200G>A (p.Pro400=)
|
rs375356111
|
0.00028
|
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
|
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp)
|
rs148286708
|
0.00028
|
|
NM_001014.5(RPS10):c.444C>T (p.Thr148=)
|
rs149897629
|
0.00028
|
|
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=)
|
rs371501734
|
0.00028
|
|
NM_001110792.2(MECP2):c.813C>T (p.Ala271=)
|
rs1042870
|
0.00028
|
|
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)
|
rs149223439
|
0.00028
|
|
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)
|
rs34654141
|
0.00028
|
|
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=)
|
rs150870424
|
0.00028
|
|
NM_001291867.2(NHS):c.513C>T (p.Leu171=)
|
rs398124610
|
0.00028
|
|
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys)
|
rs200431130
|
0.00028
|
|
NM_002439.5(MSH3):c.2262A>G (p.Ile754Met)
|
rs200819607
|
0.00028
|
|
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe)
|
rs144607594
|
0.00028
|
|
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=)
|
rs148690585
|
0.00028
|
|
NM_003482.4(KMT2D):c.13001C>T (p.Ala4334Val)
|
rs183702050
|
0.00028
|
|
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu)
|
rs200683924
|
0.00028
|
|
NM_004364.5(CEBPA):c.789C>T (p.Leu263=)
|
rs552131738
|
0.00028
|
|
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr)
|
rs374267444
|
0.00028
|
|
NM_005271.5(GLUD1):c.393C>G (p.Val131=)
|
rs147496974
|
0.00028
|
|
NM_005475.3(SH2B3):c.1426C>T (p.Leu476Phe)
|
rs74163669
|
0.00028
|
|
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys)
|
rs143560718
|
0.00028
|
|
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)
|
rs139182500
|
0.00028
|
|
NM_006947.4(SRP72):c.406G>A (p.Val136Ile)
|
rs145817936
|
0.00028
|
|
NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr)
|
rs137871492
|
0.00028
|
|
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)
|
rs146795505
|
0.00028
|
|
NM_015275.3(WASHC4):c.2159A>G (p.Asn720Ser)
|
rs113419458
|
0.00028
|
|
NM_016729.3(FOLR1):c.103A>G (p.Asn35Asp)
|
rs149216939
|
0.00028
|
|
NM_017780.4(CHD7):c.444G>A (p.Arg148=)
|
rs376455384
|
0.00028
|
|
NM_017841.4(SDHAF2):c.97C>T (p.Arg33Cys)
|
rs144867876
|
0.00028
|
|
NM_018718.3(CEP41):c.422+7G>A
|
rs190680511
|
0.00028
|
|
NM_019023.5(PRMT7):c.1764G>A (p.Pro588=)
|
rs140624242
|
0.00028
|
|
NM_022095.4(ZNF335):c.293G>A (p.Gly98Glu)
|
rs34015709
|
0.00028
|
|
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr)
|
rs142703625
|
0.00028
|
|
NM_031483.7(ITCH):c.689A>G (p.Asn230Ser)
|
rs371132495
|
0.00028
|
|
NM_032237.5(POMK):c.759C>T (p.Phe253=)
|
rs201232766
|
0.00028
|
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
|
NM_144997.7(FLCN):c.1149C>T (p.Leu383=)
|
rs150752548
|
0.00028
|
|
NM_199334.5(THRA):c.223-5C>G
|
rs200727359
|
0.00028
|
|
NM_207361.6(FREM2):c.8337C>T (p.Ser2779=)
|
rs181564966
|
0.00028
|
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
|
NM_000168.6(GLI3):c.3987C>T (p.Gly1329=)
|
rs145859702
|
0.00027
|
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
|
NM_000439.5(PCSK1):c.927C>T (p.Asn309=)
|
rs145558922
|
0.00027
|
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
|
NM_001102401.4(TTI2):c.1274T>G (p.Leu425Arg)
|
rs3736497
|
0.00027
|
|
NM_001113378.2(FANCI):c.528A>G (p.Gln176=)
|
rs145939211
|
0.00027
|
|
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg)
|
rs187172641
|
0.00027
|
|
NM_001171613.2(PREPL):c.-49+1883G>T
|
rs199854790
|
0.00027
|
|
NM_001184.4(ATR):c.1904G>A (p.Arg635Gln)
|
rs202162034
|
0.00027
|
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
|
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser)
|
rs138188555
|
0.00027
|
|
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)
|
rs201458257
|
0.00027
|
|
NM_001368882.1(COL13A1):c.304C>T (p.Leu102Phe)
|
rs200528707
|
0.00027
|
|
NM_001374828.1(ARID1B):c.4809C>T (p.Gly1603=)
|
rs139903653
|
0.00027
|
|
NM_001465.6(FYB1):c.945G>T (p.Lys315Asn)
|
rs201570574
|
0.00027
|
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
|
NM_003184.4(TAF2):c.466A>G (p.Lys156Glu)
|
rs201478549
|
0.00027
|
|
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=)
|
rs114199044
|
0.00027
|
|
NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala)
|
rs374746213
|
0.00027
|
|
NM_004714.3(DYRK1B):c.1002C>T (p.Ala334=)
|
rs146996483
|
0.00027
|
|
NM_004714.3(DYRK1B):c.870C>T (p.Tyr290=)
|
rs78838108
|
0.00027
|
|
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)
|
rs145315496
|
0.00027
|
|
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)
|
rs553120567
|
0.00027
|
|
NM_006420.3(ARFGEF2):c.2814+15G>C
|
rs370805254
|
0.00027
|
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
|
NM_018013.4(SOBP):c.1530G>C (p.Gly510=)
|
rs754718251
|
0.00027
|
|
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)
|
rs199873582
|
0.00027
|
|
NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu)
|
rs146075543
|
0.00027
|
|
NM_020717.5(SHROOM4):c.731A>G (p.Asn244Ser)
|
rs142189648
|
0.00027
|
|
NM_020975.6(RET):c.2673G>A (p.Ser891=)
|
rs201620214
|
0.00027
|
|
NM_021922.3(FANCE):c.1116C>T (p.Ile372=)
|
rs143234424
|
0.00027
|
|
NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val)
|
rs200845575
|
0.00027
|
|
NM_024598.4(USB1):c.784A>G (p.Met262Val)
|
rs143382202
|
0.00027
|
|
NM_024747.6(HPS6):c.-5G>A
|
rs376684120
|
0.00027
|
|
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val)
|
rs143396390
|
0.00027
|
|
NM_033026.6(PCLO):c.1390A>G (p.Thr464Ala)
|
rs551587634
|
0.00027
|
|
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln)
|
rs201921601
|
0.00027
|
|
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val)
|
rs147324438
|
0.00027
|
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
|
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)
|
rs56272235
|
0.00026
|
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
|
NM_000081.4(LYST):c.7368T>C (p.Asn2456=)
|
rs199631995
|
0.00026
|
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
|
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
|
NM_000168.6(GLI3):c.1242+8G>A
|
rs75925934
|
0.00026
|
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
|
NM_000214.3(JAG1):c.414G>A (p.Ala138=)
|
rs371682149
|
0.00026
|
|
NM_000284.4(PDHA1):c.396A>C (p.Arg132=)
|
rs757654963
|
0.00026
|
|
NM_000384.3(APOB):c.925G>A (p.Ala309Thr)
|
rs141888564
|
0.00026
|
|
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr)
|
rs142264176
|
0.00026
|
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
|
NM_000527.5(LDLR):c.1056C>T (p.Cys352=)
|
rs13306515
|
0.00026
|
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
|
NM_000760.4(CSF3R):c.272A>G (p.His91Arg)
|
rs148307285
|
0.00026
|
|
NM_000978.4(RPL23):c.280G>A (p.Val94Met)
|
rs139318203
|
0.00026
|
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
|
NM_001010898.4(SLC6A17):c.696C>T (p.Leu232=)
|
rs373414163
|
0.00026
|
|
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=)
|
rs144808600
|
0.00026
|
|
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)
|
rs141897690
|
0.00026
|
|
NM_001134665.3(TRMT10A):c.149A>T (p.Lys50Ile)
|
rs140061690
|
0.00026
|
|
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr)
|
rs148453804
|
0.00026
|
|
NM_001205254.2(OCLN):c.1004G>A (p.Arg335Gln)
|
rs201673353
|
0.00026
|
|
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)
|
rs200141437
|
0.00026
|
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
|
NM_001282531.3(ADNP):c.2772G>C (p.Glu924Asp)
|
rs148496595
|
0.00026
|
|
NM_001321142.2(CIDEC):c.594A>G (p.Thr198=)
|
rs147072100
|
0.00026
|
|
NM_001364905.1(LRBA):c.3392A>G (p.Asp1131Gly)
|
rs553138286
|
0.00026
|
|
NM_001367561.1(DOCK7):c.2908A>G (p.Ser970Gly)
|
rs199681303
|
0.00026
|
|
NM_001367624.2(ZNF469):c.4855G>A (p.Glu1619Lys)
|
rs759327672
|
0.00026
|
|
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg)
|
rs199674889
|
0.00026
|
|
NM_001384732.1(CPLANE1):c.6744A>G (p.Gln2248=)
|
rs142772503
|
0.00026
|
|
NM_001465.6(FYB1):c.1922T>C (p.Val641Ala)
|
rs199923708
|
0.00026
|
|
NM_001493.3(GDI1):c.696C>T (p.Gly232=)
|
rs146653767
|
0.00026
|
|
NM_001715.3(BLK):c.883C>T (p.Arg295Trp)
|
rs150949722
|
0.00026
|
|
NM_002025.4(AFF2):c.493A>G (p.Asn165Asp)
|
rs142559324
|
0.00026
|
|
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
|
rs201787206
|
0.00026
|
|
NM_003383.5(VLDLR):c.1297G>A (p.Val433Met)
|
rs140062795
|
0.00026
|
|
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)
|
rs182216426
|
0.00026
|
|
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)
|
rs145995735
|
0.00026
|
|
NM_003383.5(VLDLR):c.954C>T (p.Cys318=)
|
rs373943845
|
0.00026
|
|
NM_003482.4(KMT2D):c.16249C>T (p.Leu5417=)
|
rs200803613
|
0.00026
|
|
NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu)
|
rs370492566
|
0.00026
|
|
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu)
|
rs563981206
|
0.00026
|
|
NM_003482.4(KMT2D):c.8559G>A (p.Pro2853=)
|
rs375344889
|
0.00026
|
|
NM_003611.3(OFD1):c.2376G>A (p.Glu792=)
|
rs183241931
|
0.00026
|
|
NM_004260.4(RECQL4):c.1872C>T (p.Val624=)
|
rs201815449
|
0.00026
|
|
NM_004287.5(GOSR2):c.336+1G>A
|
rs141554661
|
0.00026
|
|
NM_004933.3(CDH15):c.1454C>T (p.Pro485Leu)
|
rs533094369
|
0.00026
|
|
NM_005026.5(PIK3CD):c.3024G>A (p.Glu1008=)
|
rs146664456
|
0.00026
|
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
|
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro)
|
rs587783633
|
0.00026
|
|
NM_005984.5(SLC25A1):c.417C>G (p.Val139=)
|
rs201261311
|
0.00026
|
|
NM_006031.6(PCNT):c.6150+30C>A
|
rs13046462
|
0.00026
|
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
|
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)
|
rs41287036
|
0.00026
|
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
|
NM_007259.5(VPS45):c.-4C>T
|
rs200563209
|
0.00026
|
|
NM_007259.5(VPS45):c.1297C>A (p.Arg433=)
|
rs140771138
|
0.00026
|
|
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu)
|
rs143828923
|
0.00026
|
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
|
NM_007347.5(AP4E1):c.257A>G (p.Tyr86Cys)
|
rs138138484
|
0.00026
|
|
NM_012309.5(SHANK2):c.2505G>A (p.Pro835=)
|
rs147781276
|
0.00026
|
|
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser)
|
rs143854197
|
0.00026
|
|
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala)
|
rs140593583
|
0.00026
|
|
NM_014915.3(ANKRD26):c.531+9C>G
|
rs142574680
|
0.00026
|
|
NM_015080.4(NRXN2):c.376C>A (p.Leu126Met)
|
rs370521049
|
0.00026
|
|
NM_015426.5(POC1A):c.159C>T (p.Arg53=)
|
rs377711159
|
0.00026
|
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
|
NM_017654.4(SAMD9):c.4001G>T (p.Arg1334Ile)
|
rs141248575
|
0.00026
|
|
NM_017739.4(POMGNT1):c.1284+9G>C
|
rs565797493
|
0.00026
|
|
NM_017757.3(ZNF407):c.*3C>T
|
rs189222961
|
0.00026
|
|
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)
|
rs199614124
|
0.00026
|
|
NM_018026.4(PACS1):c.637G>A (p.Val213Met)
|
rs142653069
|
0.00026
|
|
NM_020831.6(MRTFA):c.2364+5C>T
|
rs377354263
|
0.00026
|
|
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys)
|
rs146065064
|
0.00026
|
|
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)
|
rs758238449
|
0.00026
|
|
NM_022552.5(DNMT3A):c.72+9C>T
|
rs758596753
|
0.00026
|
|
NM_024598.4(USB1):c.106A>G (p.Ser36Gly)
|
rs138405924
|
0.00026
|
|
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln)
|
rs139245562
|
0.00026
|
|
NM_144969.3(ZDHHC15):c.1008A>G (p.Glu336=)
|
rs144128364
|
0.00026
|
|
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg)
|
rs138982161
|
0.00026
|
|
NM_153252.5(BRWD3):c.2184G>A (p.Ala728=)
|
rs369118921
|
0.00026
|
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
|
NM_198428.3(BBS9):c.621C>T (p.Tyr207=)
|
rs140169161
|
0.00026
|
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
|
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
|
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)
|
rs376349741
|
0.00025
|
|
NM_001024613.4(FEZF1):c.1164C>T (p.Thr388=)
|
rs142377395
|
0.00025
|
|
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=)
|
rs375858093
|
0.00025
|
|
NM_001083961.2(WDR62):c.4549C>T (p.Arg1517Trp)
|
rs373621531
|
0.00025
|
|
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=)
|
rs150463212
|
0.00025
|
|
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val)
|
rs375300224
|
0.00025
|
|
NM_001160372.4(TRAPPC9):c.3168G>A (p.Gly1056=)
|
rs138778665
|
0.00025
|
|
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)
|
rs148434577
|
0.00025
|
|
NM_001291303.3(FAT4):c.8078C>T (p.Ser2693Leu)
|
rs148918820
|
0.00025
|
|
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His)
|
rs199978276
|
0.00025
|
|
NM_001543.5(NDST1):c.1332C>T (p.Tyr444=)
|
rs369195455
|
0.00025
|
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
|
NM_002485.5(NBN):c.939G>A (p.Ala313=)
|
rs145750430
|
0.00025
|
|
NM_002519.3(NPAT):c.3712G>A (p.Ala1238Thr)
|
rs200156065
|
0.00025
|
|
NM_002633.3(PGM1):c.734C>T (p.Ala245Val)
|
rs929270819
|
0.00025
|
|
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His)
|
rs3782356
|
0.00025
|
|
NM_004260.4(RECQL4):c.214-3C>A
|
rs367849648
|
0.00025
|
|
NM_004655.4(AXIN2):c.1059+8C>T
|
rs367595502
|
0.00025
|
|
NM_005026.5(PIK3CD):c.1108G>A (p.Val370Met)
|
rs143521812
|
0.00025
|
|
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr)
|
rs200178501
|
0.00025
|
|
NM_005045.4(RELN):c.1144-15T>C
|
rs2301560
|
0.00025
|
|
NM_005373.3(MPL):c.1794C>T (p.Cys598=)
|
rs143457144
|
0.00025
|
|
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)
|
rs28903092
|
0.00025
|
|
NM_005921.2(MAP3K1):c.1818T>G (p.Ser606=)
|
rs368969543
|
0.00025
|
|
NM_006015.6(ARID1A):c.1803+9T>C
|
rs371726505
|
0.00025
|
|
NM_006950.3(SYN1):c.1063C>T (p.Leu355=)
|
rs191822319
|
0.00025
|
|
NM_007254.4(PNKP):c.671G>A (p.Arg224His)
|
rs199705876
|
0.00025
|
|
NM_007294.4(BRCA1):c.*485G>A
|
rs527725740
|
0.00025
|
|
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)
|
rs143802431
|
0.00025
|
|
NM_014008.5(CCDC22):c.659G>A (p.Arg220Gln)
|
rs201088755
|
0.00025
|
|
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=)
|
rs201180901
|
0.00025
|
|
NM_014953.5(DIS3):c.1760C>T (p.Ser587Phe)
|
rs144957541
|
0.00025
|
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
|
NM_017668.3(NDE1):c.744G>A (p.Ala248=)
|
rs1123418
|
0.00025
|
|
NM_017721.5(CC2D1A):c.1549G>A (p.Val517Met)
|
rs200797532
|
0.00025
|
|
NM_018451.5(CENPJ):c.2470A>T (p.Thr824Ser)
|
rs149885751
|
0.00025
|
|
NM_020987.5(ANK3):c.*9G>C
|
rs373606776
|
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_133444.3(ZNF526):c.825C>T (p.Cys275=)
|
rs138082392
|
0.00025
|
|
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala)
|
rs144540943
|
0.00025
|
|
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)
|
rs142204928
|
0.00025
|
|
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)
|
rs150743868
|
0.00025
|
|
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg)
|
rs148758903
|
0.00025
|
|
NM_198253.3(TERT):c.403G>A (p.Gly135Arg)
|
rs200843534
|
0.00025
|
|
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)
|
rs119450941
|
0.00024
|
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00024
|
|
NM_000057.4(BLM):c.3225A>G (p.Arg1075=)
|
rs7171673
|
0.00024
|
|
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
|
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)
|
rs762648754
|
0.00024
|
|
NM_000162.5(GCK):c.-98C>T
|
rs200216829
|
0.00024
|
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
|
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile)
|
rs147629352
|
0.00024
|
|
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)
|
rs199925058
|
0.00024
|
|
NM_000352.6(ABCC8):c.1630+8C>T
|
rs200053398
|
0.00024
|
|
NM_000372.5(TYR):c.454C>T (p.Pro152Ser)
|
rs145513733
|
0.00024
|
|
NM_000383.4(AIRE):c.1483C>T (p.Leu495=)
|
rs376909088
|
0.00024
|
|
NM_000383.4(AIRE):c.793G>A (p.Ala265Thr)
|
rs140835367
|
0.00024
|
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
|
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)
|
rs139712739
|
0.00024
|
|
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)
|
rs372574627
|
0.00024
|
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
|
NM_001126121.2(SLC25A19):c.146G>A (p.Arg49His)
|
rs141184131
|
0.00024
|
|
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=)
|
rs148846694
|
0.00024
|
|
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln)
|
rs147182402
|
0.00024
|
|
NM_001160372.4(TRAPPC9):c.2772C>T (p.Ser924=)
|
rs143221169
|
0.00024
|
|
NM_001177316.2(SLC34A3):c.781A>G (p.Ser261Gly)
|
rs201964796
|
0.00024
|
|
NM_001194998.2(CEP152):c.4603G>A (p.Val1535Ile)
|
rs372654467
|
0.00024
|
|
NM_001244008.2(KIF1A):c.4744-5C>T
|
rs117815481
|
0.00024
|
|
NM_001318510.2(ACSL4):c.806+8A>C
|
rs201269990
|
0.00024
|
|
NM_001353108.3(CEP63):c.2038C>T (p.Arg680Cys)
|
rs141217824
|
0.00024
|
|
NM_001366110.1(PAX4):c.762C>T (p.Ile254=)
|
rs147670794
|
0.00024
|
|
NM_001367721.1(CASK):c.600A>G (p.Val200=)
|
rs147738759
|
0.00024
|
|
NM_001374353.1(GLI2):c.2013C>T (p.Pro671=)
|
rs147314921
|
0.00024
|
|
NM_001374828.1(ARID1B):c.2379T>C (p.His793=)
|
rs370364530
|
0.00024
|
|
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=)
|
rs182162229
|
0.00024
|
|
NM_001813.3(CENPE):c.7886G>A (p.Arg2629Gln)
|
rs141321114
|
0.00024
|
|
NM_001918.5(DBT):c.37A>G (p.Asn13Asp)
|
rs140308307
|
0.00024
|
|
NM_001987.5(ETV6):c.72G>A (p.Val24=)
|
rs143194205
|
0.00024
|
|
NM_002691.4(POLD1):c.885G>C (p.Val295=)
|
rs201946114
|
0.00024
|
|
NM_002693.3(POLG):c.3482+7G>A
|
rs200309191
|
0.00024
|
|
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)
|
rs142352920
|
0.00024
|
|
NM_004525.3(LRP2):c.5107C>T (p.Pro1703Ser)
|
rs141260047
|
0.00024
|
|
NM_004560.4(ROR2):c.1959G>A (p.Leu653=)
|
rs144549032
|
0.00024
|
|
NM_004991.4(MECOM):c.1355A>C (p.Asp452Ala)
|
rs145677287
|
0.00024
|
|
NM_005026.5(PIK3CD):c.2454C>T (p.Thr818=)
|
rs140234838
|
0.00024
|
|
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)
|
rs143050366
|
0.00024
|
|
NM_005045.4(RELN):c.4872A>G (p.Gln1624=)
|
rs149121159
|
0.00024
|
|
NM_005373.3(MPL):c.549G>A (p.Thr183=)
|
rs147130173
|
0.00024
|
|
NM_006031.6(PCNT):c.7541G>A (p.Arg2514Gln)
|
rs370021414
|
0.00024
|
|
NM_006206.6(PDGFRA):c.1891+10C>T
|
rs190242331
|
0.00024
|
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
|
NM_006565.4(CTCF):c.1134G>A (p.Pro378=)
|
rs140085378
|
0.00024
|
|
NM_007294.4(BRCA1):c.4358-10C>T
|
rs80358111
|
0.00024
|
|
NM_007294.4(BRCA1):c.528G>A (p.Thr176=)
|
rs34545365
|
0.00024
|
|
NM_013275.6(ANKRD11):c.2373G>A (p.Lys791=)
|
rs138267414
|
0.00024
|
|
NM_014915.3(ANKRD26):c.3761A>G (p.Asp1254Gly)
|
rs368705077
|
0.00024
|
|
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val)
|
rs34238319
|
0.00024
|
|
NM_016038.4(SBDS):c.429G>A (p.Ser143=)
|
rs146780418
|
0.00024
|
|
NM_016343.4(CENPF):c.3974G>A (p.Arg1325Lys)
|
rs150048811
|
0.00024
|
|
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys)
|
rs199893133
|
0.00024
|
|
NM_017757.3(ZNF407):c.6301G>A (p.Gly2101Ser)
|
rs200271129
|
0.00024
|
|
NM_018249.6(CDK5RAP2):c.3686A>G (p.Asn1229Ser)
|
rs148403620
|
0.00024
|
|
NM_020975.6(RET):c.2088G>A (p.Ser696=)
|
rs150329150
|
0.00024
|
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
|
NM_020987.5(ANK3):c.4585T>C (p.Ser1529Pro)
|
rs200919668
|
0.00024
|
|
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)
|
rs146219377
|
0.00024
|
|
NM_024824.5(ZC3H14):c.2129C>T (p.Pro710Leu)
|
rs139980286
|
0.00024
|
|
NM_025009.5(CEP135):c.142C>T (p.Arg48Trp)
|
rs202084972
|
0.00024
|
|
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)
|
rs201393598
|
0.00024
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
|
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu)
|
rs372128800
|
0.00024
|
|
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)
|
rs148547201
|
0.00024
|
|
NM_032531.4(KIRREL3):c.174G>A (p.Val58=)
|
rs373309027
|
0.00024
|
|
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln)
|
rs150931960
|
0.00024
|
|
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=)
|
rs766891631
|
0.00024
|
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
|
NM_152564.5(VPS13B):c.6752T>C (p.Val2251Ala)
|
rs147576864
|
0.00024
|
|
NM_153252.5(BRWD3):c.-8G>C
|
rs760310598
|
0.00024
|
|
NM_171998.4(RAB39B):c.543A>G (p.Thr181=)
|
rs369970931
|
0.00024
|
|
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser)
|
rs144756946
|
0.00024
|
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
|
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val)
|
rs35335654
|
0.00023
|
|
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)
|
rs144432231
|
0.00023
|
|
NM_000162.5(GCK):c.-102G>A
|
rs781377703
|
0.00023
|
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
|
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)
|
rs144812594
|
0.00023
|
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00023
|
|
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=)
|
rs148659669
|
0.00023
|
|
NM_000834.5(GRIN2B):c.1356C>T (p.Tyr452=)
|
rs142935139
|
0.00023
|
|
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=)
|
rs200603552
|
0.00023
|
|
NM_001042413.2(GLIS3):c.2096G>A (p.Arg699His)
|
rs149840771
|
0.00023
|
|
NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg)
|
rs202194355
|
0.00023
|
|
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly)
|
rs773401427
|
0.00023
|
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
|
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=)
|
rs142830725
|
0.00023
|
|
NM_001160372.4(TRAPPC9):c.384G>A (p.Pro128=)
|
rs140509196
|
0.00023
|
|
NM_001184.4(ATR):c.117A>G (p.Gln39=)
|
rs56297030
|
0.00023
|
|
NM_001289104.2(PRKCSH):c.823G>A (p.Ala275Thr)
|
rs142339453
|
0.00023
|
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00023
|
|
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=)
|
rs183572405
|
0.00023
|
|
NM_001904.4(CTNNB1):c.1830C>T (p.Ile610=)
|
rs374923885
|
0.00023
|
|
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys)
|
rs117670586
|
0.00023
|
|
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=)
|
rs754282387
|
0.00023
|
|
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)
|
rs147738731
|
0.00023
|
|
NM_005263.5(GFI1):c.200G>A (p.Arg67Lys)
|
rs200577201
|
0.00023
|
|
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=)
|
rs376385129
|
0.00023
|
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
|
NM_006015.6(ARID1A):c.2139A>G (p.Pro713=)
|
rs779283100
|
0.00023
|
|
NM_006910.5(RBBP6):c.2636G>A (p.Arg879His)
|
rs139014248
|
0.00023
|
|
NM_006947.4(SRP72):c.610+11T>C
|
rs558553825
|
0.00023
|
|
NM_007118.4(TRIO):c.6836-4dup
|
rs758053482
|
0.00023
|
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
|
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=)
|
rs145176345
|
0.00023
|
|
NM_007347.5(AP4E1):c.3217C>A (p.Gln1073Lys)
|
rs117612527
|
0.00023
|
|
NM_014009.4(FOXP3):c.340C>T (p.Arg114Trp)
|
rs200554980
|
0.00023
|
|
NM_014795.4(ZEB2):c.462G>A (p.Glu154=)
|
rs372940559
|
0.00023
|
|
NM_016222.4(DDX41):c.97T>C (p.Tyr33His)
|
rs150205465
|
0.00023
|
|
NM_017654.4(SAMD9):c.1880del (p.Ser627fs)
|
rs767270627
|
0.00023
|
|
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile)
|
rs145272328
|
0.00023
|
|
NM_020361.5(CPA6):c.931C>T (p.Arg311Ter)
|
rs139145929
|
0.00023
|
|
NM_020987.5(ANK3):c.8573C>T (p.Ser2858Leu)
|
rs78194762
|
0.00023
|
|
NM_171998.4(RAB39B):c.93T>C (p.Gly31=)
|
rs143418001
|
0.00023
|
|
NM_182914.3(SYNE2):c.9785A>G (p.Lys3262Arg)
|
rs374766665
|
0.00023
|
|
NM_198253.3(TERT):c.3032+69G>A
|
rs186849858
|
0.00023
|
|
NM_203447.4(DOCK8):c.223C>G (p.Leu75Val)
|
rs368133450
|
0.00023
|
|
NM_203447.4(DOCK8):c.5892C>T (p.Asn1964=)
|
rs138617736
|
0.00023
|
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
|
NM_000143.4(FH):c.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00022
|
|
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg)
|
rs1800466
|
0.00022
|
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
|
NM_000546.6(TP53):c.216C>T (p.Pro72=)
|
rs56275308
|
0.00022
|
|
NM_000550.3(TYRP1):c.1138G>T (p.Ala380Ser)
|
rs184910238
|
0.00022
|
|
NM_000782.5(CYP24A1):c.93G>A (p.Thr31=)
|
rs151204685
|
0.00022
|
|
NM_001010898.4(SLC6A17):c.1723G>A (p.Val575Met)
|
rs143189177
|
0.00022
|
|
NM_001048166.1(STIL):c.3067G>T (p.Val1023Leu)
|
rs144586803
|
0.00022
|
|
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)
|
rs147875659
|
0.00022
|
|
NM_001109809.5(ZFP57):c.1118C>G (p.Ser373Cys)
|
rs193232883
|
0.00022
|
|
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=)
|
rs372083517
|
0.00022
|
|
NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=)
|
rs373979305
|
0.00022
|
|
NM_001353108.3(CEP63):c.572G>A (p.Arg191Gln)
|
rs529386244
|
0.00022
|
|
NM_001368397.1(FRMPD4):c.2072G>T (p.Gly691Val)
|
rs200183778
|
0.00022
|
|
NM_001372044.2(SHANK3):c.1248G>A (p.Ser416=)
|
rs372822152
|
0.00022
|
|
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp)
|
rs139125255
|
0.00022
|
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00022
|
|
NM_001415.4(EIF2S3):c.28C>T (p.Leu10=)
|
rs148505917
|
0.00022
|
|
NM_001448.3(GPC4):c.646G>T (p.Val216Leu)
|
rs142826244
|
0.00022
|
|
NM_002291.3(LAMB1):c.2152G>A (p.Val718Met)
|
rs142742847
|
0.00022
|
|
NM_002435.3(MPI):c.573C>T (p.Ala191=)
|
rs200903491
|
0.00022
|
|
NM_003355.3(UCP2):c.*2C>G
|
rs114649509
|
0.00022
|
|
NM_003355.3(UCP2):c.181G>A (p.Gly61Ser)
|
rs774824879
|
0.00022
|
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
|
NM_004364.5(CEBPA):c.561G>C (p.Pro187=)
|
rs538441046
|
0.00022
|
|
NM_004525.3(LRP2):c.9040C>T (p.Arg3014Trp)
|
rs142093111
|
0.00022
|
|
NM_004991.4(MECOM):c.3570A>G (p.Arg1190=)
|
rs146055772
|
0.00022
|
|
NM_005263.5(GFI1):c.-7G>A
|
rs184691209
|
0.00022
|
|
NM_006015.6(ARID1A):c.5491C>G (p.Leu1831Val)
|
rs150534917
|
0.00022
|
|
NM_006231.4(POLE):c.672C>T (p.Tyr224=)
|
rs376923206
|
0.00022
|
|
NM_012156.2(EPB41L1):c.990G>A (p.Lys330=)
|
rs191582038
|
0.00022
|
|
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile)
|
rs149152296
|
0.00022
|
|
NM_014467.3(SRPX2):c.693C>A (p.His231Gln)
|
rs142719253
|
0.00022
|
|
NM_015450.3(POT1):c.1228G>C (p.Asp410His)
|
rs79314063
|
0.00022
|
|
NM_016038.4(SBDS):c.357T>C (p.Cys119=)
|
rs189441106
|
0.00022
|
|
NM_016343.4(CENPF):c.7721C>T (p.Ser2574Phe)
|
rs201477597
|
0.00022
|
|
NM_016356.5(DCDC2):c.222C>A (p.Ile74=)
|
rs138670560
|
0.00022
|
|
NM_017654.4(SAMD9):c.2436C>T (p.Tyr812=)
|
rs146964145
|
0.00022
|
|
NM_017849.4(TMEM127):c.565C>T (p.Leu189=)
|
rs146965678
|
0.00022
|
|
NM_020066.5(FMN2):c.1657G>A (p.Gly553Arg)
|
rs201654893
|
0.00022
|
|
NM_020207.7(ERCC6L2):c.789-4A>G
|
rs367808564
|
0.00022
|
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
|
NM_020987.5(ANK3):c.2001C>T (p.Ser667=)
|
rs146438080
|
0.00022
|
|
NM_020987.5(ANK3):c.6916A>G (p.Lys2306Glu)
|
rs144270555
|
0.00022
|
|
NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys)
|
rs145110365
|
0.00022
|
|
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro)
|
rs192534185
|
0.00022
|
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
|
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro)
|
rs556803400
|
0.00022
|
|
NM_024596.5(MCPH1):c.1742A>G (p.Glu581Gly)
|
rs35402812
|
0.00022
|
|
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=)
|
rs367688971
|
0.00022
|
|
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg)
|
rs565065320
|
0.00022
|
|
NM_024824.5(ZC3H14):c.1260T>G (p.Asp420Glu)
|
rs201108116
|
0.00022
|
|
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val)
|
rs571554235
|
0.00022
|
|
NM_025099.6(CTC1):c.3515-10C>T
|
rs200225342
|
0.00022
|
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
|
NM_025265.4(TSEN2):c.587G>T (p.Gly196Val)
|
rs143243952
|
0.00022
|
|
NM_030928.4(CDT1):c.75G>T (p.Leu25=)
|
rs765888738
|
0.00022
|
|
NM_032638.5(GATA2):c.1416G>A (p.Pro472=)
|
rs376805544
|
0.00022
|
|
NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp)
|
rs137873804
|
0.00022
|
|
NM_032977.4(CASP10):c.953G>A (p.Gly318Glu)
|
rs138931498
|
0.00022
|
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
|
NM_152703.5(SAMD9L):c.1549T>C (p.Trp517Arg)
|
rs199714577
|
0.00022
|
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
|
NM_173630.4(RTTN):c.330T>A (p.Asp110Glu)
|
rs372296200
|
0.00022
|
|
NM_182914.3(SYNE2):c.13417C>T (p.Pro4473Ser)
|
rs146894065
|
0.00022
|
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
|
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=)
|
rs148880015
|
0.00021
|
|
NM_000136.3(FANCC):c.843+87T>C
|
rs183585118
|
0.00021
|
|
NM_000144.5(FXN):c.179G>A (p.Arg60His)
|
rs141858334
|
0.00021
|
|
NM_000168.6(GLI3):c.1028+3A>T
|
rs368499795
|
0.00021
|
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
|
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)
|
rs121908866
|
0.00021
|
|
NM_000406.3(GNRHR):c.416G>A (p.Arg139His)
|
rs104893842
|
0.00021
|
|
NM_000479.5(AMH):c.174A>G (p.Ala58=)
|
rs573689958
|
0.00021
|
|
NM_000550.3(TYRP1):c.1261+1G>A
|
rs140365820
|
0.00021
|
|
NM_001004320.2(AGMO):c.1214G>A (p.Arg405Gln)
|
rs181773805
|
0.00021
|
|
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=)
|
rs567071026
|
0.00021
|
|
NM_001042492.3(NF1):c.5269-9A>G
|
rs544515671
|
0.00021
|
|
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=)
|
rs61751442
|
0.00021
|
|
NM_001113378.2(FANCI):c.*560A>G
|
rs540371794
|
0.00021
|
|
NM_001113378.2(FANCI):c.3006+11C>T
|
rs372049835
|
0.00021
|
|
NM_001143992.2(WRAP53):c.187G>A (p.Val63Met)
|
rs145760222
|
0.00021
|
|
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)
|
rs202050860
|
0.00021
|
|
NM_001184.4(ATR):c.2688G>A (p.Leu896=)
|
rs117926957
|
0.00021
|
|
NM_001184.4(ATR):c.483A>G (p.Arg161=)
|
rs182268224
|
0.00021
|
|
NM_001184.4(ATR):c.5257A>G (p.Ile1753Val)
|
rs143806447
|
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_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)
|
rs374873057
|
0.00021
|
|
NM_001244710.2(GFPT1):c.1629C>T (p.Asp543=)
|
rs369055649
|
0.00021
|
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
|
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met)
|
rs141717966
|
0.00021
|
|
NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=)
|
rs143646885
|
0.00021
|
|
NM_001368397.1(FRMPD4):c.1224T>C (p.His408=)
|
rs200736738
|
0.00021
|
|
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu)
|
rs138639760
|
0.00021
|
|
NM_001378454.1(ALMS1):c.3867T>C (p.Tyr1289=)
|
rs369314182
|
0.00021
|
|
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)
|
rs200667230
|
0.00021
|
|
NM_001905.4(CTPS1):c.1488C>T (p.Gly496=)
|
rs201824063
|
0.00021
|
|
NM_002017.5(FLI1):c.360C>T (p.Asn120=)
|
rs370809611
|
0.00021
|
|
NM_002291.3(LAMB1):c.3642G>T (p.Gly1214=)
|
rs569355700
|
0.00021
|
|
NM_002335.4(LRP5):c.1134C>T (p.Ile378=)
|
rs139130382
|
0.00021
|
|
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00021
|
|
NM_002582.4(PARN):c.1785T>G (p.Asp595Glu)
|
rs200434143
|
0.00021
|
|
NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=)
|
rs143672551
|
0.00021
|
|
NM_003051.4(SLC16A1):c.-201T>A
|
rs753315328
|
0.00021
|
|
NM_003072.5(SMARCA4):c.1419+4C>T
|
rs370219784
|
0.00021
|
|
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=)
|
rs756224211
|
0.00021
|
|
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His)
|
rs142885301
|
0.00021
|
|
NM_003482.4(KMT2D):c.13524C>T (p.Asn4508=)
|
rs199676066
|
0.00021
|
|
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)
|
rs140758033
|
0.00021
|
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
|
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn)
|
rs72468630
|
0.00021
|
|
NM_004153.4(ORC1):c.1517G>A (p.Cys506Tyr)
|
rs147904927
|
0.00021
|
|
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser)
|
rs919904139
|
0.00021
|
|
NM_004380.3(CREBBP):c.4560+14A>G
|
rs200934101
|
0.00021
|
|
NM_004525.3(LRP2):c.7384_7390+8dup
|
rs587780382
|
0.00021
|
|
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser)
|
rs201422815
|
0.00021
|
|
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=)
|
rs138296474
|
0.00021
|
|
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=)
|
rs150436577
|
0.00021
|
|
NM_006059.4(LAMC3):c.2201A>T (p.Glu734Val)
|
rs376100801
|
0.00021
|
|
NM_006086.4(TUBB3):c.666C>T (p.Tyr222=)
|
rs61743676
|
0.00021
|
|
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)
|
rs200239821
|
0.00021
|
|
NM_006765.4(TUSC3):c.1029-8T>C
|
rs371128729
|
0.00021
|
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
|
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln)
|
rs139049098
|
0.00021
|
|
NM_014915.3(ANKRD26):c.3G>A (p.Met1Ile)
|
rs199683454
|
0.00021
|
|
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)
|
rs201248643
|
0.00021
|
|
NM_016343.4(CENPF):c.9116C>G (p.Thr3039Arg)
|
rs141439443
|
0.00021
|
|
NM_016734.3(PAX5):c.910+9A>G
|
rs191297254
|
0.00021
|
|
NM_017654.4(SAMD9):c.4417C>T (p.Arg1473Cys)
|
rs145665736
|
0.00021
|
|
NM_017755.6(NSUN2):c.915C>T (p.Arg305=)
|
rs527650370
|
0.00021
|
|
NM_017763.6(RNF43):c.674G>A (p.Arg225His)
|
rs367688879
|
0.00021
|
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
|
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn)
|
rs139876661
|
0.00021
|
|
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr)
|
rs41299627
|
0.00021
|
|
NM_018136.5(ASPM):c.8741T>C (p.Ile2914Thr)
|
rs200856894
|
0.00021
|
|
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg)
|
rs138675304
|
0.00021
|
|
NM_022725.4(FANCF):c.687A>T (p.Ser229=)
|
rs776140806
|
0.00021
|
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
|
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)
|
rs150157112
|
0.00021
|
|
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)
|
rs11836796
|
0.00021
|
|
NM_032415.7(CARD11):c.1595C>T (p.Thr532Met)
|
rs201780608
|
0.00021
|
|
NM_139058.3(ARX):c.558G>T (p.Pro186=)
|
rs748764628
|
0.00021
|
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
|
NM_175914.5(HNF4A):c.427-4G>A
|
rs146751799
|
0.00021
|
|
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=)
|
rs61749602
|
0.00021
|
|
NM_181741.4(ORC4):c.287A>G (p.Gln96Arg)
|
rs138317624
|
0.00021
|
|
NM_182961.4(SYNE1):c.3669+4C>G
|
rs376511242
|
0.00021
|
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
|
NM_198253.3(TERT):c.3257G>A (p.Arg1086His)
|
rs200288187
|
0.00021
|
|
NM_203447.4(DOCK8):c.1119T>C (p.Gly373=)
|
rs370564355
|
0.00021
|
|
NM_203447.4(DOCK8):c.180G>T (p.Glu60Asp)
|
rs370107163
|
0.00021
|
|
NR_001566.1(TERC):n.-74G>A
|
rs368238225
|
0.00021
|
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
|
NM_000059.4(BRCA2):c.198A>G (p.Gln66=)
|
rs28897700
|
0.00020
|
|
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)
|
rs80358521
|
0.00020
|
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
|
NM_000136.3(FANCC):c.-249_-242del
|
rs919273419
|
0.00020
|
|
NM_000136.3(FANCC):c.1407G>A (p.Thr469=)
|
rs79722116
|
0.00020
|
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
|
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val)
|
rs2227971
|
0.00020
|
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
|
NM_000489.6(ATRX):c.1467C>T (p.Thr489=)
|
rs199929884
|
0.00020
|
|
NM_000551.3(VHL):c.-188G>A
|
rs966586600
|
0.00020
|
|
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)
|
rs142636150
|
0.00020
|
|
NM_001080.3(ALDH5A1):c.1344-6T>C
|
rs368212282
|
0.00020
|
|
NM_001099274.3(TINF2):c.507+6G>A
|
rs142144996
|
0.00020
|
|
NM_001111077.2(EZR):c.1434C>T (p.Tyr478=)
|
rs375043853
|
0.00020
|
|
NM_001145358.2(SIN3A):c.3438A>G (p.Glu1146=)
|
rs372034400
|
0.00020
|
|
NM_001160372.4(TRAPPC9):c.82G>A (p.Glu28Lys)
|
rs151056818
|
0.00020
|
|
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)
|
rs200430493
|
0.00020
|
|
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)
|
rs149787233
|
0.00020
|
|
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)
|
rs746812421
|
0.00020
|
|
NM_001807.6(CEL):c.878C>T (p.Pro293Leu)
|
rs201066180
|
0.00020
|
|
NM_001958.5(EEF1A2):c.30C>T (p.Ile10=)
|
rs376374917
|
0.00020
|
|
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr)
|
rs189732445
|
0.00020
|
|
NM_003383.5(VLDLR):c.738C>T (p.Cys246=)
|
rs116687040
|
0.00020
|
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
|
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu)
|
rs143227399
|
0.00020
|
|
NM_005120.3(MED12):c.934G>C (p.Val312Leu)
|
rs377403264
|
0.00020
|
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
|
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu)
|
rs376808920
|
0.00020
|
|
NM_006005.3(WFS1):c.712+8C>T
|
rs369185545
|
0.00020
|
|
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile)
|
rs113208348
|
0.00020
|
|
NM_006031.6(PCNT):c.6277G>A (p.Asp2093Asn)
|
rs200303861
|
0.00020
|
|
NM_006910.5(RBBP6):c.1783G>A (p.Ala595Thr)
|
rs199538396
|
0.00020
|
|
NM_013275.6(ANKRD11):c.5178C>T (p.Ser1726=)
|
rs200783129
|
0.00020
|
|
NM_015080.4(NRXN2):c.894C>T (p.Phe298=)
|
rs137891559
|
0.00020
|
|
NM_015175.3(NBEAL2):c.6375C>T (p.Pro2125=)
|
rs372864119
|
0.00020
|
|
NM_016495.6(TBC1D7):c.406G>A (p.Ala136Thr)
|
rs9381921
|
0.00020
|
|
NM_017668.3(NDE1):c.302C>T (p.Ala101Val)
|
rs201587506
|
0.00020
|
|
NM_017757.3(ZNF407):c.4010A>G (p.Tyr1337Cys)
|
rs760492866
|
0.00020
|
|
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn)
|
rs200654820
|
0.00020
|
|
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His)
|
rs201088712
|
0.00020
|
|
NM_020461.4(TUBGCP6):c.2043C>T (p.Ser681=)
|
rs142854750
|
0.00020
|
|
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu)
|
rs201721812
|
0.00020
|
|
NM_020717.5(SHROOM4):c.316C>T (p.Leu106=)
|
rs149731264
|
0.00020
|
|
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe)
|
rs139536545
|
0.00020
|
|
NM_022436.3(ABCG5):c.897C>T (p.Asp299=)
|
rs373237261
|
0.00020
|
|
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile)
|
rs199574095
|
0.00020
|
|
NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=)
|
rs368009374
|
0.00020
|
|
NM_022725.4(FANCF):c.465A>T (p.Pro155=)
|
rs201215734
|
0.00020
|
|
NM_025114.4(CEP290):c.853-9G>A
|
rs974759127
|
0.00020
|
|
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696
|
0.00020
|
|
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met)
|
rs147732725
|
0.00020
|
|
NM_173689.7(CRB2):c.1494G>T (p.Trp498Cys)
|
rs144803819
|
0.00020
|
|
NM_181523.3(PIK3R1):c.634+6T>C
|
rs199530427
|
0.00020
|
|
NM_182961.4(SYNE1):c.22346+6G>T
|
rs368678916
|
0.00020
|
|
NM_198252.3(GSN):c.-9-1967C>T
|
rs372837702
|
0.00020
|
|
NM_198253.3(TERT):c.2391C>G (p.Ser797=)
|
rs377216965
|
0.00020
|
|
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser)
|
rs139564938
|
0.00020
|
|
NR_184036.1(R3HDML-AS1):n.22T>A
|
rs149135843
|
0.00020
|
|
NM_000051.3(ATM):c.-371G>C
|
rs890835455
|
0.00019
|
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
|
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)
|
rs187343742
|
0.00019
|
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
|
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=)
|
rs181183366
|
0.00019
|
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
rs55847618
|
0.00019
|
|
NM_000135.4(FANCA):c.3912A>G (p.Ala1304=)
|
rs545021222
|
0.00019
|
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
|
NM_000207.2(INS):c.-293C>T
|
rs562867858
|
0.00019
|
|
NM_000207.3(INS):c.-153C>G
|
rs915076855
|
0.00019
|
|
NM_000207.3(INS):c.187+203G>A
|
rs147024795
|
0.00019
|
|
NM_000208.4(INSR):c.320C>T (p.Thr107Met)
|
rs140762552
|
0.00019
|
|
NM_000212.3(ITGB3):c.537C>T (p.Phe179=)
|
rs770144031
|
0.00019
|
|
NM_000212.3(ITGB3):c.900T>C (p.His300=)
|
rs376378154
|
0.00019
|
|
NM_000222.3(KIT):c.251C>T (p.Thr84Met)
|
rs201872586
|
0.00019
|
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
|
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=)
|
rs372002602
|
0.00019
|
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
|
NM_000371.4(TTR):c.368G>A (p.Arg123His)
|
rs148538950
|
0.00019
|
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
|
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val)
|
rs200921233
|
0.00019
|
|
NM_000465.4(BARD1):c.57G>A (p.Glu19=)
|
rs730881406
|
0.00019
|
|
NM_000540.3(RYR1):c.1123-11C>T
|
rs3745845
|
0.00019
|
|
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)
|
rs35993958
|
0.00019
|
|
NM_000551.4(VHL):c.341-6C>T
|
rs191201783
|
0.00019
|
|
NM_000988.5(RPL27):c.33G>A (p.Val11=)
|
rs149080883
|
0.00019
|
|
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)
|
rs200303151
|
0.00019
|
|
NM_001018113.3(FANCB):c.507T>C (p.Ser169=)
|
rs149609970
|
0.00019
|
|
NM_001042492.3(NF1):c.1032A>G (p.Leu344=)
|
rs199832006
|
0.00019
|
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
|
NM_001048166.1(STIL):c.227C>T (p.Ser76Leu)
|
rs147160336
|
0.00019
|
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
|
NM_001077446.4(TSEN34):c.468G>C (p.Ser156=)
|
rs376153530
|
0.00019
|
|
NM_001080.3(ALDH5A1):c.684G>A (p.Lys228=)
|
rs200484487
|
0.00019
|
|
NM_001082486.2(ACD):c.1152G>A (p.Pro384=)
|
rs147116458
|
0.00019
|
|
NM_001083961.2(WDR62):c.4312T>A (p.Leu1438Met)
|
rs138814793
|
0.00019
|
|
NM_001109809.5(ZFP57):c.56G>A (p.Gly19Asp)
|
rs371500990
|
0.00019
|
|
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=)
|
rs199530601
|
0.00019
|
|
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)
|
rs781816931
|
0.00019
|
|
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu)
|
rs61749739
|
0.00019
|
|
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=)
|
rs797045630
|
0.00019
|
|
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)
|
rs199726965
|
0.00019
|
|
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro)
|
rs554876309
|
0.00019
|
|
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile)
|
rs142969866
|
0.00019
|
|
NM_001129820.2(SLFN14):c.1277C>A (p.Thr426Asn)
|
rs190500366
|
0.00019
|
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
|
NM_001247997.2(CLIP1):c.2338C>T (p.Arg780Trp)
|
rs3741447
|
0.00019
|
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
|
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)
|
rs76928874
|
0.00019
|
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
|
NM_001267550.2(TTN):c.95450T>C (p.Val31817Ala)
|
rs758207460
|
0.00019
|
|
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)
|
rs142907833
|
0.00019
|
|
NM_001283009.2(RTEL1):c.1349-9G>A
|
rs772899702
|
0.00019
|
|
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr)
|
rs151214675
|
0.00019
|
|
NM_001283009.2(RTEL1):c.3393G>A (p.Thr1131=)
|
rs142965557
|
0.00019
|
|
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn)
|
rs148418212
|
0.00019
|
|
NM_001346022.3(USP45):c.625G>A (p.Ala209Thr)
|
rs190107235
|
0.00019
|
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
|
NM_001365999.1(SZT2):c.4647C>T (p.Gly1549=)
|
rs149192929
|
0.00019
|
|
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)
|
rs149496322
|
0.00019
|
|
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe)
|
rs373944325
|
0.00019
|
|
NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=)
|
rs376244626
|
0.00019
|
|
NM_001626.6(AKT2):c.1399C>T (p.Arg467Trp)
|
rs142926499
|
0.00019
|
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
|
NM_002354.3(EPCAM):c.63C>G (p.Ala21=)
|
rs549177672
|
0.00019
|
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
|
NM_002582.4(PARN):c.1406-9C>T
|
rs530099133
|
0.00019
|
|
NM_002582.4(PARN):c.389-8G>A
|
rs200322751
|
0.00019
|
|
NM_002878.4(RAD51D):c.*7C>T
|
rs370985675
|
0.00019
|
|
NM_002894.3(RBBP8):c.1812+6T>A
|
rs377320407
|
0.00019
|
|
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys)
|
rs200192746
|
0.00019
|
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
|
NM_004153.4(ORC1):c.1239A>C (p.Ala413=)
|
rs377164890
|
0.00019
|
|
NM_004168.4(SDHA):c.1569T>C (p.Ala523=)
|
rs150192376
|
0.00019
|
|
NM_004187.5(KDM5C):c.536G>A (p.Arg179His)
|
rs201805773
|
0.00019
|
|
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met)
|
rs201661055
|
0.00019
|
|
NM_004522.3(KIF5C):c.1224C>A (p.Gly408=)
|
rs369291063
|
0.00019
|
|
NM_004782.4(SNAP29):c.*6G>A
|
rs370326257
|
0.00019
|
|
NM_004830.4(MED23):c.235C>T (p.Leu79Phe)
|
rs151031376
|
0.00019
|
|
NM_005045.4(RELN):c.3663C>T (p.Ser1221=)
|
rs199705497
|
0.00019
|
|
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile)
|
rs201656873
|
0.00019
|
|
NM_005334.3(HCFC1):c.905-3C>T
|
rs200367055
|
0.00019
|
|
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser)
|
rs544959269
|
0.00019
|
|
NM_006015.6(ARID1A):c.2698G>A (p.Ala900Thr)
|
rs138418893
|
0.00019
|
|
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro)
|
rs113536916
|
0.00019
|
|
NM_006031.6(PCNT):c.8951C>G (p.Ser2984Cys)
|
rs376696104
|
0.00019
|
|
NM_006031.6(PCNT):c.9363C>A (p.Ala3121=)
|
rs144262961
|
0.00019
|
|
NM_006059.4(LAMC3):c.2351G>A (p.Arg784Gln)
|
rs371815223
|
0.00019
|
|
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=)
|
rs150180733
|
0.00019
|
|
NM_006947.4(SRP72):c.1005C>T (p.Pro335=)
|
rs201570324
|
0.00019
|
|
NM_006947.4(SRP72):c.1294G>A (p.Ala432Thr)
|
rs201102960
|
0.00019
|
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
|
NM_012082.4(ZFPM2):c.2490A>T (p.Ile830=)
|
rs368201603
|
0.00019
|
|
NM_012156.2(EPB41L1):c.1893C>T (p.Ser631=)
|
rs142447348
|
0.00019
|
|
NM_012309.5(SHANK2):c.2424G>A (p.Ala808=)
|
rs143774841
|
0.00019
|
|
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys)
|
rs141064983
|
0.00019
|
|
NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala)
|
rs200641534
|
0.00019
|
|
NM_015426.5(POC1A):c.784C>T (p.Arg262Trp)
|
rs146976547
|
0.00019
|
|
NM_015450.3(POT1):c.64A>G (p.Ile22Val)
|
rs375440229
|
0.00019
|
|
NM_016222.4(DDX41):c.741G>A (p.Glu247=)
|
rs143274979
|
0.00019
|
|
NM_017654.4(SAMD9):c.1059G>A (p.Thr353=)
|
rs145911444
|
0.00019
|
|
NM_017757.3(ZNF407):c.4146G>A (p.Thr1382=)
|
rs373279175
|
0.00019
|
|
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys)
|
rs112997359
|
0.00019
|
|
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His)
|
rs143733126
|
0.00019
|
|
NM_018249.6(CDK5RAP2):c.3679A>T (p.Ile1227Phe)
|
rs139203975
|
0.00019
|
|
NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp)
|
rs140202346
|
0.00019
|
|
NM_018943.3(TUBA8):c.967G>A (p.Val323Met)
|
rs151102020
|
0.00019
|
|
NM_019066.5(MAGEL2):c.434C>T (p.Pro145Leu)
|
rs372352945
|
0.00019
|
|
NM_020461.4(TUBGCP6):c.655G>T (p.Val219Leu)
|
rs137934849
|
0.00019
|
|
NM_020921.4(NIN):c.1991C>T (p.Thr664Ile)
|
rs147946706
|
0.00019
|
|
NM_020987.5(ANK3):c.4085G>C (p.Gly1362Ala)
|
rs200556767
|
0.00019
|
|
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=)
|
rs146601031
|
0.00019
|
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
|
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=)
|
rs200401940
|
0.00019
|
|
NM_024596.5(MCPH1):c.867G>A (p.Gln289=)
|
rs201231900
|
0.00019
|
|
NM_024649.5(BBS1):c.-3A>G
|
rs549210746
|
0.00019
|
|
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala)
|
rs144257610
|
0.00019
|
|
NM_024824.5(ZC3H14):c.79+19G>T
|
rs201210664
|
0.00019
|
|
NM_024884.3(L2HGDH):c.1228G>A (p.Asp410Asn)
|
rs746040665
|
0.00019
|
|
NM_025074.7(FRAS1):c.11871G>A (p.Arg3957=)
|
rs367585112
|
0.00019
|
|
NM_025099.6(CTC1):c.2895C>T (p.Ala965=)
|
rs373530008
|
0.00019
|
|
NM_025099.6(CTC1):c.597G>A (p.Thr199=)
|
rs373023392
|
0.00019
|
|
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys)
|
rs374656545
|
0.00019
|
|
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu)
|
rs201405375
|
0.00019
|
|
NM_030773.4(TUBB1):c.400C>T (p.Gln134Ter)
|
rs199948010
|
0.00019
|
|
NM_030962.4(SBF2):c.4799C>T (p.Thr1600Ile)
|
rs183468503
|
0.00019
|
|
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr)
|
rs201483312
|
0.00019
|
|
NM_032119.4(ADGRV1):c.2734+8A>G
|
rs371906040
|
0.00019
|
|
NM_032444.4(SLX4):c.1389A>G (p.Lys463=)
|
rs376668879
|
0.00019
|
|
NM_032444.4(SLX4):c.1499C>T (p.Thr500Met)
|
rs377440877
|
0.00019
|
|
NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del)
|
rs199897550
|
0.00019
|
|
NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val)
|
rs372921011
|
0.00019
|
|
NM_032737.4(LMNB2):c.1049G>A (p.Arg350Gln)
|
rs754644849
|
0.00019
|
|
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)
|
rs587777778
|
0.00019
|
|
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00019
|
|
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=)
|
rs201294258
|
0.00019
|
|
NM_173560.4(RFX6):c.1829T>C (p.Leu610Pro)
|
rs150973410
|
0.00019
|
|
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys)
|
rs143204089
|
0.00019
|
|
NM_199242.3(UNC13D):c.114G>A (p.Pro38=)
|
rs755103812
|
0.00019
|
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
|
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)
|
rs201225704
|
0.00018
|
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
|
NM_001001433.3(STX16):c.360T>C (p.His120=)
|
rs148962992
|
0.00018
|
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
|
NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=)
|
rs61746076
|
0.00018
|
|
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)
|
rs61748385
|
0.00018
|
|
NM_001244008.2(KIF1A):c.3202+8G>A
|
rs371620074
|
0.00018
|
|
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)
|
rs371973579
|
0.00018
|
|
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=)
|
rs148697943
|
0.00018
|
|
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)
|
rs199537542
|
0.00018
|
|
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)
|
rs776745618
|
0.00018
|
|
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val)
|
rs200944504
|
0.00018
|
|
NM_001493.3(GDI1):c.1191+12G>A
|
rs782356686
|
0.00018
|
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
|
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys)
|
rs61751955
|
0.00018
|
|
NM_003355.3(UCP2):c.446G>A (p.Arg149Gln)
|
rs371789455
|
0.00018
|
|
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)
|
rs115035120
|
0.00018
|
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
|
NM_006009.4(TUBA1A):c.390G>C (p.Thr130=)
|
rs1143559
|
0.00018
|
|
NM_006015.6(ARID1A):c.-7G>T
|
rs1421881390
|
0.00018
|
|
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg)
|
rs112231246
|
0.00018
|
|
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)
|
rs200610141
|
0.00018
|
|
NM_007259.5(VPS45):c.625G>T (p.Val209Phe)
|
rs201955039
|
0.00018
|
|
NM_007294.4(BRCA1):c.*713C>T
|
rs773119778
|
0.00018
|
|
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser)
|
rs141278078
|
0.00018
|
|
NM_014467.3(SRPX2):c.624G>A (p.Pro208=)
|
rs139514583
|
0.00018
|
|
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)
|
rs372517211
|
0.00018
|
|
NM_016222.4(DDX41):c.1399+10G>A
|
rs200374307
|
0.00018
|
|
NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val)
|
rs376829052
|
0.00018
|
|
NM_017757.3(ZNF407):c.3013G>C (p.Val1005Leu)
|
rs372408823
|
0.00018
|
|
NM_018036.7(ATG2B):c.4568A>G (p.Asn1523Ser)
|
rs201130552
|
0.00018
|
|
NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn)
|
rs140692271
|
0.00018
|
|
NM_020461.4(TUBGCP6):c.4026C>T (p.Ser1342=)
|
rs763335019
|
0.00018
|
|
NM_021044.4(DHH):c.234G>A (p.Val78=)
|
rs370468314
|
0.00018
|
|
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser)
|
rs142140276
|
0.00018
|
|
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=)
|
rs369101323
|
0.00018
|
|
NM_025099.6(CTC1):c.1479A>G (p.Gln493=)
|
rs188654013
|
0.00018
|
|
NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala)
|
rs530949904
|
0.00018
|
|
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu)
|
rs149362820
|
0.00018
|
|
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=)
|
rs199941415
|
0.00018
|
|
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln)
|
rs201029723
|
0.00018
|
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
|
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)
|
rs199701877
|
0.00018
|
|
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)
|
rs201855218
|
0.00018
|
|
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu)
|
rs138344683
|
0.00018
|
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
|
NM_000096.4(CP):c.944A>G (p.Asn315Ser)
|
rs370682704
|
0.00017
|
|
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)
|
rs186634115
|
0.00017
|
|
NM_000383.4(AIRE):c.1244A>G (p.His415Arg)
|
rs149609996
|
0.00017
|
|
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)
|
rs371403343
|
0.00017
|
|
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln)
|
rs140167865
|
0.00017
|
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
|
NM_000545.8(HNF1A):c.1500C>T (p.His500=)
|
rs201694197
|
0.00017
|
|
NM_000545.8(HNF1A):c.693G>A (p.Thr231=)
|
rs145240086
|
0.00017
|
|
NM_000549.5(TSHB):c.373del (p.Cys125fs)
|
rs755485552
|
0.00017
|
|
NM_000553.6(WRN):c.2131C>T (p.Arg711Trp)
|
rs34560788
|
0.00017
|
|
NM_000834.5(GRIN2B):c.1780+9G>A
|
rs201461091
|
0.00017
|
|
NM_001003787.4(STRADA):c.1050C>G (p.Pro350=)
|
rs370096068
|
0.00017
|
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
|
NM_001070.5(TUBG1):c.1159-4C>T
|
rs547943769
|
0.00017
|
|
NM_001143992.2(WRAP53):c.1A>G (p.Met1Val)
|
rs867179605
|
0.00017
|
|
NM_001194998.2(CEP152):c.2018+9T>C
|
rs587783417
|
0.00017
|
|
NM_001201550.3(CFHR4):c.1235G>A (p.Arg412Gln)
|
rs200135698
|
0.00017
|
|
NM_001289.6(CLIC2):c.717C>T (p.Tyr239=)
|
rs367873692
|
0.00017
|
|
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu)
|
rs531527716
|
0.00017
|
|
NM_001374828.1(ARID1B):c.6318C>T (p.His2106=)
|
rs142416998
|
0.00017
|
|
NM_001972.4(ELANE):c.366+12C>A
|
rs377068029
|
0.00017
|
|
NM_002168.4(IDH2):c.890T>C (p.Val297Ala)
|
rs538460237
|
0.00017
|
|
NM_002582.4(PARN):c.978A>G (p.Lys326=)
|
rs200678657
|
0.00017
|
|
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His)
|
rs35948251
|
0.00017
|
|
NM_003850.3(SUCLA2):c.942C>T (p.Leu314=)
|
rs368442407
|
0.00017
|
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
|
NM_004426.3(PHC1):c.612+9C>T
|
rs370885224
|
0.00017
|
|
NM_004840.3(ARHGEF6):c.262G>C (p.Asp88His)
|
rs149768069
|
0.00017
|
|
NM_004959.5(NR5A1):c.1266C>T (p.Cys422=)
|
rs140408680
|
0.00017
|
|
NM_005188.4(CBL):c.33C>T (p.Ala11=)
|
rs760968593
|
0.00017
|
|
NM_005886.3(KATNB1):c.1149C>T (p.Asn383=)
|
rs145459183
|
0.00017
|
|
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg)
|
rs80166001
|
0.00017
|
|
NM_007294.3(BRCA1):c.-125C>T
|
rs148196794
|
0.00017
|
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
|
NM_014915.3(ANKRD26):c.1327G>A (p.Gly443Arg)
|
rs199787000
|
0.00017
|
|
NM_015175.3(NBEAL2):c.6880G>A (p.Glu2294Lys)
|
rs201342229
|
0.00017
|
|
NM_015275.3(WASHC4):c.3286G>A (p.Ala1096Thr)
|
rs113168943
|
0.00017
|
|
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp)
|
rs139223261
|
0.00017
|
|
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln)
|
rs202111577
|
0.00017
|
|
NM_016038.4(SBDS):c.107T>C (p.Val36Ala)
|
rs548436732
|
0.00017
|
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
|
NM_016222.4(DDX41):c.291G>A (p.Lys97=)
|
rs141619153
|
0.00017
|
|
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)
|
rs142143752
|
0.00017
|
|
NM_016302.4(CRBN):c.634C>G (p.Pro212Ala)
|
rs141771026
|
0.00017
|
|
NM_018026.4(PACS1):c.2358G>A (p.Ser786=)
|
rs200716334
|
0.00017
|
|
NM_020831.6(MRTFA):c.869C>T (p.Pro290Leu)
|
rs200309955
|
0.00017
|
|
NM_020987.5(ANK3):c.4907G>A (p.Arg1636Lys)
|
rs188159332
|
0.00017
|
|
NM_022095.4(ZNF335):c.2961G>A (p.Gln987=)
|
rs181061162
|
0.00017
|
|
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)
|
rs559617787
|
0.00017
|
|
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)
|
rs376944136
|
0.00017
|
|
NM_024876.4(COQ8B):c.706G>A (p.Val236Met)
|
rs146225943
|
0.00017
|
|
NM_025099.6(CTC1):c.-10C>T
|
rs201782976
|
0.00017
|
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
|
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=)
|
rs191964053
|
0.00017
|
|
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)
|
rs145796331
|
0.00017
|
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
0.00017
|
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
|
NM_032237.5(POMK):c.373A>T (p.Met125Leu)
|
rs146303063
|
0.00017
|
|
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp)
|
rs758789462
|
0.00017
|
|
NM_032638.5(GATA2):c.-106T>G
|
rs915550032
|
0.00017
|
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00017
|
|
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)
|
rs143026267
|
0.00017
|
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
|
NM_177438.3(DICER1):c.3261G>A (p.Ala1087=)
|
rs369869162
|
0.00017
|
|
NM_198576.4(AGRN):c.3732C>T (p.His1244=)
|
rs536657086
|
0.00017
|
|
NM_199242.3(UNC13D):c.1212C>G (p.Thr404=)
|
rs201727463
|
0.00017
|
|
NM_000051.4(ATM):c.8584+10T>C
|
rs373321041
|
0.00016
|
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
|
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)
|
rs202019404
|
0.00016
|
|
NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser)
|
rs141763734
|
0.00016
|
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
|
NM_000162.5(GCK):c.735G>A (p.Glu245=)
|
rs775481896
|
0.00016
|
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
|
NM_000207.3(INS):c.147C>T (p.Phe49=)
|
rs148685531
|
0.00016
|
|
NM_000207.3(INS):c.188-96G>A
|
rs565314634
|
0.00016
|
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
|
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)
|
rs121434251
|
0.00016
|
|
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)
|
rs145673861
|
0.00016
|
|
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)
|
rs34993780
|
0.00016
|
|
NM_000516.7(GNAS):c.530+10C>T
|
rs199499878
|
0.00016
|
|
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=)
|
rs770408379
|
0.00016
|
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
|
NM_000760.4(CSF3R):c.1457C>T (p.Thr486Met)
|
rs759506026
|
0.00016
|
|
NM_000988.5(RPL27):c.403C>T (p.Arg135Trp)
|
rs146328911
|
0.00016
|
|
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=)
|
rs374619113
|
0.00016
|
|
NM_001010898.4(SLC6A17):c.1287C>T (p.Asp429=)
|
rs151152223
|
0.00016
|
|
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg)
|
rs375827113
|
0.00016
|
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
|
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys)
|
rs200971205
|
0.00016
|
|
NM_001032221.6(STXBP1):c.903-4C>G
|
rs369625158
|
0.00016
|
|
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile)
|
rs142128956
|
0.00016
|
|
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=)
|
rs150209984
|
0.00016
|
|
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594
|
0.00016
|
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
|
NM_001080517.3(SETD5):c.3341G>A (p.Gly1114Asp)
|
rs201189533
|
0.00016
|
|
NM_001083961.2(WDR62):c.390+7C>T
|
rs759572399
|
0.00016
|
|
NM_001083962.2(TCF4):c.1487-5G>A
|
rs749176054
|
0.00016
|
|
NM_001083962.2(TCF4):c.330A>C (p.Ser110=)
|
rs780528611
|
0.00016
|
|
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)
|
rs150231327
|
0.00016
|
|
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp)
|
rs148652047
|
0.00016
|
|
NM_001160372.4(TRAPPC9):c.2981G>C (p.Ser994Thr)
|
rs377114410
|
0.00016
|
|
NM_001165963.4(SCN1A):c.1378-3T>C
|
rs150964803
|
0.00016
|
|
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu)
|
rs151187637
|
0.00016
|
|
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=)
|
rs749602848
|
0.00016
|
|
NM_001194998.2(CEP152):c.186C>T (p.Asp62=)
|
rs548567364
|
0.00016
|
|
NM_001194998.2(CEP152):c.3085A>G (p.Met1029Val)
|
rs201172776
|
0.00016
|
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00016
|
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
|
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu)
|
rs186163798
|
0.00016
|
|
NM_001272071.2(AP1S2):c.289-8C>T
|
rs770199415
|
0.00016
|
|
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu)
|
rs144002969
|
0.00016
|
|
NM_001291867.2(NHS):c.739C>T (p.Arg247Cys)
|
rs369785842
|
0.00016
|
|
NM_001321142.2(CIDEC):c.467T>C (p.Ile156Thr)
|
rs201709635
|
0.00016
|
|
NM_001330078.2(NRXN1):c.320C>T (p.Thr107Met)
|
rs368549770
|
0.00016
|
|
NM_001349338.3(FOXP1):c.1217C>G (p.Thr406Ser)
|
rs200355554
|
0.00016
|
|
NM_001349338.3(FOXP1):c.936C>T (p.Gly312=)
|
rs61753356
|
0.00016
|
|
NM_001371928.1(AHDC1):c.1446C>T (p.Pro482=)
|
rs138527675
|
0.00016
|
|
NM_001376.5(DYNC1H1):c.369C>T (p.Pro123=)
|
rs372944247
|
0.00016
|
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188
|
0.00016
|
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
|
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=)
|
rs146220233
|
0.00016
|
|
NM_001429.4(EP300):c.7161T>C (p.Gly2387=)
|
rs143148170
|
0.00016
|
|
NM_001543.5(NDST1):c.1314C>T (p.Pro438=)
|
rs201629807
|
0.00016
|
|
NM_001807.6(CEL):c.1449C>T (p.Ala483=)
|
rs372739809
|
0.00016
|
|
NM_001813.3(CENPE):c.5082G>A (p.Val1694=)
|
rs200547471
|
0.00016
|
|
NM_001987.5(ETV6):c.573G>T (p.Arg191=)
|
rs35030220
|
0.00016
|
|
NM_002049.4(GATA1):c.871-7T>C
|
rs371752832
|
0.00016
|
|
NM_002067.5(GNA11):c.234C>T (p.Leu78=)
|
rs770729214
|
0.00016
|
|
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)
|
rs144495959
|
0.00016
|
|
NM_002439.5(MSH3):c.3174A>G (p.Gln1058=)
|
rs758314489
|
0.00016
|
|
NM_002465.4(MYBPC1):c.1946T>C (p.Val649Ala)
|
rs200111933
|
0.00016
|
|
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)
|
rs200800978
|
0.00016
|
|
NM_002519.3(NPAT):c.2785+4A>T
|
rs374585786
|
0.00016
|
|
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser)
|
rs140296303
|
0.00016
|
|
NM_002633.3(PGM1):c.1600-3C>T
|
rs375450688
|
0.00016
|
|
NM_002691.4(POLD1):c.2337G>A (p.Ala779=)
|
rs147108748
|
0.00016
|
|
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=)
|
rs201372858
|
0.00016
|
|
NM_003361.4(UMOD):c.1916T>C (p.Phe639Ser)
|
rs145165861
|
0.00016
|
|
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln)
|
rs746518411
|
0.00016
|
|
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=)
|
rs371444130
|
0.00016
|
|
NM_003482.4(KMT2D):c.2062C>T (p.Arg688Cys)
|
rs371076182
|
0.00016
|
|
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=)
|
rs370414767
|
0.00016
|
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
|
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)
|
rs143141689
|
0.00016
|
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
|
NM_004260.4(RECQL4):c.2467G>A (p.Glu823Lys)
|
rs368611522
|
0.00016
|
|
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn)
|
rs148238492
|
0.00016
|
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
|
NM_004560.4(ROR2):c.2274G>A (p.Ser758=)
|
rs139915017
|
0.00016
|
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
|
NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter)
|
rs370167241
|
0.00016
|
|
NM_005045.4(RELN):c.2532G>A (p.Pro844=)
|
rs113842330
|
0.00016
|
|
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)
|
rs2020960
|
0.00016
|
|
NM_005357.4(LIPE):c.2166G>A (p.Ala722=)
|
rs371435924
|
0.00016
|
|
NM_005546.4(ITK):c.1351C>T (p.Arg451Trp)
|
rs200331133
|
0.00016
|
|
NM_005984.5(SLC25A1):c.19C>T (p.Pro7Ser)
|
rs548005216
|
0.00016
|
|
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys)
|
rs201176638
|
0.00016
|
|
NM_006031.6(PCNT):c.6150+3G>A
|
rs760779996
|
0.00016
|
|
NM_006031.6(PCNT):c.6722G>A (p.Ser2241Asn)
|
rs142402562
|
0.00016
|
|
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=)
|
rs138506849
|
0.00016
|
|
NM_006031.6(PCNT):c.8130C>T (p.His2710=)
|
rs373738288
|
0.00016
|
|
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu)
|
rs138868039
|
0.00016
|
|
NM_006059.4(LAMC3):c.1330C>T (p.Arg444Cys)
|
rs140066207
|
0.00016
|
|
NM_006059.4(LAMC3):c.538C>T (p.Arg180Cys)
|
rs146609763
|
0.00016
|
|
NM_006118.4(HAX1):c.514G>A (p.Val172Ile)
|
rs141970914
|
0.00016
|
|
NM_006949.4(STXBP2):c.1027-10C>T
|
rs201961771
|
0.00016
|
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
|
NM_007294.4(BRCA1):c.-61C>T
|
rs549332987
|
0.00016
|
|
NM_012216.4(MID2):c.2144G>A (p.Arg715Gln)
|
rs370198556
|
0.00016
|
|
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr)
|
rs371691712
|
0.00016
|
|
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=)
|
rs117876038
|
0.00016
|
|
NM_014264.5(PLK4):c.2414+4A>C
|
rs141246117
|
0.00016
|
|
NM_014915.3(ANKRD26):c.*6A>G
|
rs372479083
|
0.00016
|
|
NM_014915.3(ANKRD26):c.1635+9T>C
|
rs199590440
|
0.00016
|
|
NM_014915.3(ANKRD26):c.4299G>A (p.Glu1433=)
|
rs201705027
|
0.00016
|
|
NM_015080.4(NRXN2):c.999G>A (p.Ser333=)
|
rs375837520
|
0.00016
|
|
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=)
|
rs369566680
|
0.00016
|
|
NM_015272.5(RPGRIP1L):c.612C>T (p.Ala204=)
|
rs373750629
|
0.00016
|
|
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys)
|
rs587784381
|
0.00016
|
|
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile)
|
rs201412509
|
0.00016
|
|
NM_016222.4(DDX41):c.1479C>T (p.Ser493=)
|
rs148853192
|
0.00016
|
|
NM_017654.4(SAMD9):c.662G>A (p.Arg221Gln)
|
rs148603551
|
0.00016
|
|
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr)
|
rs201374643
|
0.00016
|
|
NM_017755.6(NSUN2):c.762C>T (p.Asp254=)
|
rs763930477
|
0.00016
|
|
NM_017757.3(ZNF407):c.3974C>G (p.Pro1325Arg)
|
rs368198591
|
0.00016
|
|
NM_018062.4(FANCL):c.387G>A (p.Ala129=)
|
rs141400460
|
0.00016
|
|
NM_018136.5(ASPM):c.4214G>A (p.Arg1405His)
|
rs143092798
|
0.00016
|
|
NM_018136.5(ASPM):c.4402G>A (p.Ala1468Thr)
|
rs189918817
|
0.00016
|
|
NM_018136.5(ASPM):c.5061A>G (p.Ser1687=)
|
rs587783246
|
0.00016
|
|
NM_018136.5(ASPM):c.81C>A (p.Pro27=)
|
rs369801034
|
0.00016
|
|
NM_018993.4(RIN2):c.1158G>C (p.Pro386=)
|
rs548499908
|
0.00016
|
|
NM_020831.6(MRTFA):c.325G>A (p.Ala109Thr)
|
rs181447706
|
0.00016
|
|
NM_022095.4(ZNF335):c.-10C>T
|
rs199929676
|
0.00016
|
|
NM_022095.4(ZNF335):c.3639C>T (p.Thr1213=)
|
rs191074858
|
0.00016
|
|
NM_022095.4(ZNF335):c.3843A>G (p.Pro1281=)
|
rs35291173
|
0.00016
|
|
NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu)
|
rs762225826
|
0.00016
|
|
NM_022455.5(NSD1):c.-8G>A
|
rs199639292
|
0.00016
|
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
|
NM_024596.5(MCPH1):c.2499G>T (p.Leu833Phe)
|
rs34009706
|
0.00016
|
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
|
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn)
|
rs142887208
|
0.00016
|
|
NM_024757.5(EHMT1):c.1176C>T (p.Asp392=)
|
rs373083497
|
0.00016
|
|
NM_024757.5(EHMT1):c.85+9G>A
|
rs566701810
|
0.00016
|
|
NM_025074.7(FRAS1):c.9356A>G (p.Asn3119Ser)
|
rs191105001
|
0.00016
|
|
NM_025265.4(TSEN2):c.872A>G (p.Tyr291Cys)
|
rs140979604
|
0.00016
|
|
NM_030665.4(RAI1):c.1476C>T (p.Pro492=)
|
rs200887225
|
0.00016
|
|
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr)
|
rs370671656
|
0.00016
|
|
NM_030962.4(SBF2):c.2319G>A (p.Ala773=)
|
rs201547070
|
0.00016
|
|
NM_031466.8(TRAPPC9):c.-256G>A
|
rs144294636
|
0.00016
|
|
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=)
|
rs145504336
|
0.00016
|
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
|
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)
|
rs142040192
|
0.00016
|
|
NM_032531.4(KIRREL3):c.1917C>T (p.Ser639=)
|
rs759990243
|
0.00016
|
|
NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu)
|
rs369942106
|
0.00016
|
|
NM_032833.5(PPP1R15B):c.1694C>T (p.Pro565Leu)
|
rs147451458
|
0.00016
|
|
NM_033022.4(RPS24):c.235C>T (p.Leu79=)
|
rs192994060
|
0.00016
|
|
NM_057176.3(BSND):c.9C>T (p.Asp3=)
|
rs141111550
|
0.00016
|
|
NM_058004.4(PI4KA):c.2987+42A>G
|
rs370972198
|
0.00016
|
|
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=)
|
rs376637245
|
0.00016
|
|
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)
|
rs180747605
|
0.00016
|
|
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)
|
rs199649536
|
0.00016
|
|
NM_145207.3(AFG2A):c.1278-10T>C
|
rs376606287
|
0.00016
|
|
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)
|
rs145419141
|
0.00016
|
|
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val)
|
rs201147123
|
0.00016
|
|
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)
|
rs368851580
|
0.00016
|
|
NM_153033.5(KCTD7):c.133C>T (p.Leu45=)
|
rs587780370
|
0.00016
|
|
NM_175914.5(HNF4A):c.-83C>T
|
rs879092890
|
0.00016
|
|
NM_181332.3(NLGN4X):c.2360C>T (p.Thr787Met)
|
rs4995611
|
0.00016
|
|
NM_203395.3(IYD):c.762C>T (p.Pro254=)
|
rs200771803
|
0.00016
|
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
|
NR_001566.1(TERC):n.-11G>A
|
rs192691719
|
0.00016
|
|
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly)
|
rs370567994
|
0.00015
|
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00015
|
|
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
|
NM_000135.4(FANCA):c.79+10C>T
|
rs573174362
|
0.00015
|
|
NM_000204.5(CFI):c.608C>T (p.Thr203Ile)
|
rs138346388
|
0.00015
|
|
NM_000208.4(INSR):c.1191C>T (p.Ile397=)
|
rs56135071
|
0.00015
|
|
NM_000208.4(INSR):c.2976C>T (p.Tyr992=)
|
rs191756282
|
0.00015
|
|
NM_000222.3(KIT):c.2484C>T (p.Asn828=)
|
rs141347955
|
0.00015
|
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
|
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met)
|
rs201125580
|
0.00015
|
|
NM_000303.3(PMM2):c.*10G>A
|
rs200930493
|
0.00015
|
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
|
NM_000540.3(RYR1):c.14304-10G>A
|
rs368201693
|
0.00015
|
|
NM_000760.4(CSF3R):c.1665G>T (p.Gly555=)
|
rs139705992
|
0.00015
|
|
NM_001018115.3(FANCD2):c.888+9T>C
|
rs777620616
|
0.00015
|
|
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala)
|
rs138497939
|
0.00015
|
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
|
NM_001080510.5(METTL23):c.348A>G (p.Ile116Met)
|
rs201149370
|
0.00015
|
|
NM_001083962.2(TCF4):c.208-8A>G
|
rs184943897
|
0.00015
|
|
NM_001110792.2(MECP2):c.1176G>A (p.Val392=)
|
rs201711454
|
0.00015
|
|
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=)
|
rs61751363
|
0.00015
|
|
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)
|
rs185957513
|
0.00015
|
|
NM_001113378.2(FANCI):c.446-6T>G
|
rs377255054
|
0.00015
|
|
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)
|
rs376617920
|
0.00015
|
|
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=)
|
rs142571794
|
0.00015
|
|
NM_001184.4(ATR):c.4641+9A>G
|
rs369284360
|
0.00015
|
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
|
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)
|
rs532329866
|
0.00015
|
|
NM_001368397.1(FRMPD4):c.2599A>G (p.Asn867Asp)
|
rs144170600
|
0.00015
|
|
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)
|
rs375804228
|
0.00015
|
|
NM_001374828.1(ARID1B):c.6063C>T (p.Thr2021=)
|
rs376113162
|
0.00015
|
|
NM_001376.5(DYNC1H1):c.3156+5G>A
|
rs200905961
|
0.00015
|
|
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=)
|
rs543329958
|
0.00015
|
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
|
NM_001905.4(CTPS1):c.1692-1G>C
|
rs145092287
|
0.00015
|
|
NM_002519.3(NPAT):c.1092T>G (p.Thr364=)
|
rs200595874
|
0.00015
|
|
NM_002666.5(PLIN1):c.1386C>T (p.Pro462=)
|
rs569394554
|
0.00015
|
|
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)
|
rs72547551
|
0.00015
|
|
NM_003482.4(KMT2D):c.11916G>A (p.Gln3972=)
|
rs371224852
|
0.00015
|
|
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=)
|
rs200155807
|
0.00015
|
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
|
NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr)
|
rs200097701
|
0.00015
|
|
NM_004268.5(MED17):c.1752T>C (p.Asn584=)
|
rs138934738
|
0.00015
|
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
|
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His)
|
rs190037522
|
0.00015
|
|
NM_004933.3(CDH15):c.1615+3G>A
|
rs755682005
|
0.00015
|
|
NM_004933.3(CDH15):c.1680G>T (p.Leu560=)
|
rs779984001
|
0.00015
|
|
NM_005120.3(MED12):c.4179A>C (p.Ser1393=)
|
rs376058351
|
0.00015
|
|
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=)
|
rs200081632
|
0.00015
|
|
NM_005857.5(ZMPSTE24):c.325T>G (p.Cys109Gly)
|
rs141386841
|
0.00015
|
|
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly)
|
rs147868583
|
0.00015
|
|
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys)
|
rs78524660
|
0.00015
|
|
NM_006231.4(POLE):c.6576G>A (p.Ala2192=)
|
rs368555884
|
0.00015
|
|
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly)
|
rs370890802
|
0.00015
|
|
NM_007059.4(KPTN):c.460G>A (p.Gly154Arg)
|
rs377316863
|
0.00015
|
|
NM_012309.5(SHANK2):c.5021C>T (p.Thr1674Met)
|
rs141040521
|
0.00015
|
|
NM_015080.4(NRXN2):c.49C>G (p.Leu17Val)
|
rs797045802
|
0.00015
|
|
NM_017757.3(ZNF407):c.4758G>A (p.Val1586=)
|
rs371417079
|
0.00015
|
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
|
NM_020738.4(KIDINS220):c.2553T>C (p.Asn851=)
|
rs377667176
|
0.00015
|
|
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr)
|
rs376197752
|
0.00015
|
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
|
NM_021008.4(DEAF1):c.99A>C (p.Ala33=)
|
rs895976430
|
0.00015
|
|
NM_025009.5(CEP135):c.2617-3C>T
|
rs377744366
|
0.00015
|
|
NM_030962.4(SBF2):c.2050C>G (p.Leu684Val)
|
rs146987383
|
0.00015
|
|
NM_032040.5(CCDC8):c.294C>A (p.Asp98Glu)
|
rs201941979
|
0.00015
|
|
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=)
|
rs577770118
|
0.00015
|
|
NM_033022.4(RPS24):c.189T>C (p.His63=)
|
rs201805132
|
0.00015
|
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
|
NM_139058.3(ARX):c.148T>C (p.Leu50=)
|
rs370342380
|
0.00015
|
|
NM_144997.7(FLCN):c.1332C>T (p.Ala444=)
|
rs141283741
|
0.00015
|
|
NM_148919.4(PSMB8):c.804G>A (p.Leu268=)
|
rs371969268
|
0.00015
|
|
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln)
|
rs200201944
|
0.00015
|
|
NM_000038.6(APC):c.6609T>C (p.Val2203=)
|
rs149328018
|
0.00014
|
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
|
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)
|
rs372838622
|
0.00014
|
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
|
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
|
rs188695241
|
0.00014
|
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
|
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)
|
rs147611168
|
0.00014
|
|
NM_000204.5(CFI):c.905-3T>C
|
rs377535161
|
0.00014
|
|
NM_000208.4(INSR):c.690C>T (p.Ala230=)
|
rs373720760
|
0.00014
|
|
NM_000275.3(OCA2):c.1182+1G>A
|
rs371963034
|
0.00014
|
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
|
NM_000352.6(ABCC8):c.823-8C>T
|
rs201000679
|
0.00014
|
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
|
NM_000439.5(PCSK1):c.1550G>A (p.Arg517Gln)
|
rs149124467
|
0.00014
|
|
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala)
|
rs200436490
|
0.00014
|
|
NM_000540.3(RYR1):c.10048C>A (p.Arg3350=)
|
rs200355885
|
0.00014
|
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
|
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00014
|
|
NM_000681.4(ADRA2A):c.463G>A (p.Glu155Lys)
|
rs373186564
|
0.00014
|
|
NM_000760.4(CSF3R):c.1761C>T (p.Leu587=)
|
rs149239453
|
0.00014
|
|
NM_000760.4(CSF3R):c.1864+12C>T
|
rs368290894
|
0.00014
|
|
NM_000834.5(GRIN2B):c.291G>A (p.Val97=)
|
rs202223470
|
0.00014
|
|
NM_001005361.3(DNM2):c.822G>A (p.Thr274=)
|
rs201763720
|
0.00014
|
|
NM_001008537.3(NEXMIF):c.206C>T (p.Ser69Phe)
|
rs201351157
|
0.00014
|
|
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=)
|
rs185590667
|
0.00014
|
|
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)
|
rs201287021
|
0.00014
|
|
NM_001077365.2(POMT1):c.129C>T (p.Asp43=)
|
rs200465419
|
0.00014
|
|
NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser)
|
rs149793005
|
0.00014
|
|
NM_001083116.3(PRF1):c.999C>T (p.Pro333=)
|
rs140260618
|
0.00014
|
|
NM_001099274.3(TINF2):c.1073_1081dup (p.Tyr360_Met361insAsnCysTyr)
|
rs776727691
|
0.00014
|
|
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met)
|
rs782180774
|
0.00014
|
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00014
|
|
NM_001113378.2(FANCI):c.882+10A>G
|
rs370227185
|
0.00014
|
|
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)
|
rs190842600
|
0.00014
|
|
NM_001128164.2(ATXN1):c.630G>T (p.Gln210His)
|
rs368218879
|
0.00014
|
|
NM_001130823.3(DNMT1):c.301C>T (p.Arg101Trp)
|
rs369196079
|
0.00014
|
|
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)
|
rs191337920
|
0.00014
|
|
NM_001134665.3(TRMT10A):c.934A>G (p.Ser312Gly)
|
rs151225187
|
0.00014
|
|
NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln)
|
rs770605375
|
0.00014
|
|
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser)
|
rs200963473
|
0.00014
|
|
NM_001194998.2(CEP152):c.2751G>A (p.Met917Ile)
|
rs189636635
|
0.00014
|
|
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)
|
rs117557829
|
0.00014
|
|
NM_001199397.3(NEK1):c.292G>A (p.Val98Ile)
|
rs115005766
|
0.00014
|
|
NM_001205254.2(OCLN):c.197G>T (p.Arg66Leu)
|
rs116363086
|
0.00014
|
|
NM_001206999.2(CIT):c.4275G>C (p.Val1425=)
|
rs373068114
|
0.00014
|
|
NM_001242.5(CD27):c.495C>T (p.Asp165=)
|
rs375150093
|
0.00014
|
|
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)
|
rs774604596
|
0.00014
|
|
NM_001244008.2(KIF1A):c.258T>C (p.Phe86=)
|
rs183284555
|
0.00014
|
|
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)
|
rs200835354
|
0.00014
|
|
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)
|
rs563969986
|
0.00014
|
|
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)
|
rs200843338
|
0.00014
|
|
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys)
|
rs61753977
|
0.00014
|
|
NM_001330078.2(NRXN1):c.2036C>T (p.Pro679Leu)
|
rs201735573
|
0.00014
|
|
NM_001368397.1(FRMPD4):c.3813C>T (p.His1271=)
|
rs376423451
|
0.00014
|
|
NM_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val)
|
rs201137071
|
0.00014
|
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
|
NM_001376.5(DYNC1H1):c.12834C>T (p.Phe4278=)
|
rs201126154
|
0.00014
|
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
|
NM_001543.5(NDST1):c.1113C>T (p.Asp371=)
|
rs139282708
|
0.00014
|
|
NM_001807.6(CEL):c.132T>C (p.Gly44=)
|
rs543591885
|
0.00014
|
|
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln)
|
rs374200408
|
0.00014
|
|
NM_001972.4(ELANE):c.428G>A (p.Arg143His)
|
rs200993994
|
0.00014
|
|
NM_002025.4(AFF2):c.561C>A (p.Asp187Glu)
|
rs201152809
|
0.00014
|
|
NM_002291.3(LAMB1):c.3481C>T (p.Arg1161Cys)
|
rs146018013
|
0.00014
|
|
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)
|
rs397515426
|
0.00014
|
|
NM_002894.3(RBBP8):c.2630G>A (p.Arg877His)
|
rs201195506
|
0.00014
|
|
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=)
|
rs183695281
|
0.00014
|
|
NM_003072.5(SMARCA4):c.999C>T (p.Pro333=)
|
rs538345417
|
0.00014
|
|
NM_003193.5(TBCE):c.1567C>T (p.Leu523=)
|
rs140104308
|
0.00014
|
|
NM_003383.5(VLDLR):c.836G>A (p.Arg279Gln)
|
rs114307467
|
0.00014
|
|
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp)
|
rs201127814
|
0.00014
|
|
NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=)
|
rs201794205
|
0.00014
|
|
NM_004278.4(PIGL):c.493A>C (p.Arg165=)
|
rs184077858
|
0.00014
|
|
NM_004278.4(PIGL):c.595T>C (p.Leu199=)
|
rs114176862
|
0.00014
|
|
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)
|
rs374969185
|
0.00014
|
|
NM_004380.3(CREBBP):c.6814G>A (p.Gly2272Ser)
|
rs1351901078
|
0.00014
|
|
NM_004426.3(PHC1):c.2816G>A (p.Arg939His)
|
rs183583604
|
0.00014
|
|
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)
|
rs17880082
|
0.00014
|
|
NM_004840.3(ARHGEF6):c.942C>T (p.His314=)
|
rs34274521
|
0.00014
|
|
NM_004933.3(CDH15):c.2369C>T (p.Ala790Val)
|
rs146594802
|
0.00014
|
|
NM_004935.4(CDK5):c.651-9C>T
|
rs76486938
|
0.00014
|
|
NM_005026.5(PIK3CD):c.2631C>G (p.Leu877=)
|
rs368751278
|
0.00014
|
|
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu)
|
rs201296719
|
0.00014
|
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
|
NM_005236.3(ERCC4):c.471A>G (p.Lys157=)
|
rs3136092
|
0.00014
|
|
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)
|
rs753325454
|
0.00014
|
|
NM_005271.5(GLUD1):c.45G>A (p.Gly15=)
|
rs754568150
|
0.00014
|
|
NM_005859.5(PURA):c.621C>T (p.Asp207=)
|
rs142688247
|
0.00014
|
|
NM_005886.3(KATNB1):c.349G>A (p.Gly117Ser)
|
rs368082767
|
0.00014
|
|
NM_005912.3(MC4R):c.757G>A (p.Val253Ile)
|
rs187152753
|
0.00014
|
|
NM_005984.5(SLC25A1):c.202+3G>A
|
rs782189539
|
0.00014
|
|
NM_006009.4(TUBA1A):c.378C>T (p.Ala126=)
|
rs1135224
|
0.00014
|
|
NM_006015.6(ARID1A):c.110G>A (p.Gly37Asp)
|
rs933617964
|
0.00014
|
|
NM_006031.6(PCNT):c.4216+9C>T
|
rs369876466
|
0.00014
|
|
NM_006031.6(PCNT):c.5705G>A (p.Arg1902His)
|
rs201536644
|
0.00014
|
|
NM_006031.6(PCNT):c.6096G>A (p.Ser2032=)
|
rs370040791
|
0.00014
|
|
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn)
|
rs150156962
|
0.00014
|
|
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val)
|
rs201185279
|
0.00014
|
|
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys)
|
rs149844283
|
0.00014
|
|
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=)
|
rs142800774
|
0.00014
|
|
NM_006031.6(PCNT):c.9871A>G (p.Arg3291Gly)
|
rs147637351
|
0.00014
|
|
NM_006059.4(LAMC3):c.1051C>T (p.Arg351Cys)
|
rs201626968
|
0.00014
|
|
NM_006231.4(POLE):c.1583C>T (p.Thr528Met)
|
rs116263919
|
0.00014
|
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
|
NM_006231.4(POLE):c.6004+5G>T
|
rs372169366
|
0.00014
|
|
NM_006420.3(ARFGEF2):c.4812G>A (p.Lys1604=)
|
rs142036030
|
0.00014
|
|
NM_006420.3(ARFGEF2):c.493A>G (p.Thr165Ala)
|
rs148230420
|
0.00014
|
|
NM_007175.8(ERLIN2):c.819+3A>G
|
rs377704533
|
0.00014
|
|
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr)
|
rs80357122
|
0.00014
|
|
NM_007327.4(GRIN1):c.1340C>A (p.Pro447His)
|
rs587780348
|
0.00014
|
|
NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile)
|
rs201845067
|
0.00014
|
|
NM_012280.4(FTSJ1):c.762A>G (p.Leu254=)
|
rs143734567
|
0.00014
|
|
NM_012309.5(SHANK2):c.4822G>A (p.Val1608Ile)
|
rs543988574
|
0.00014
|
|
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=)
|
rs140146408
|
0.00014
|
|
NM_014008.5(CCDC22):c.926C>A (p.Ala309Asp)
|
rs183877705
|
0.00014
|
|
NM_014159.7(SETD2):c.5316A>G (p.Glu1772=)
|
rs141027201
|
0.00014
|
|
NM_014321.4(ORC6):c.207T>G (p.Ile69Met)
|
rs138076975
|
0.00014
|
|
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)
|
rs181341030
|
0.00014
|
|
NM_014795.4(ZEB2):c.2973C>T (p.Ile991=)
|
rs572507342
|
0.00014
|
|
NM_014915.3(ANKRD26):c.101C>T (p.Ala34Val)
|
rs368560982
|
0.00014
|
|
NM_014915.3(ANKRD26):c.2902A>G (p.Thr968Ala)
|
rs369233145
|
0.00014
|
|
NM_015080.4(NRXN2):c.2281A>T (p.Met761Leu)
|
rs138291758
|
0.00014
|
|
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)
|
rs372565083
|
0.00014
|
|
NM_015175.3(NBEAL2):c.5459+8G>A
|
rs747932446
|
0.00014
|
|
NM_015175.3(NBEAL2):c.597G>A (p.Leu199=)
|
rs199694703
|
0.00014
|
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
|
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His)
|
rs374247020
|
0.00014
|
|
NM_016222.4(DDX41):c.51T>G (p.Pro17=)
|
rs563411513
|
0.00014
|
|
NM_016734.3(PAX5):c.825C>T (p.Asp275=)
|
rs143317078
|
0.00014
|
|
NM_017654.4(SAMD9):c.1653C>T (p.Asp551=)
|
rs149364387
|
0.00014
|
|
NM_017654.4(SAMD9):c.4067A>G (p.Glu1356Gly)
|
rs202023980
|
0.00014
|
|
NM_017668.3(NDE1):c.741T>G (p.Pro247=)
|
rs138534309
|
0.00014
|
|
NM_017721.5(CC2D1A):c.705C>T (p.Ala235=)
|
rs376336714
|
0.00014
|
|
NM_017757.3(ZNF407):c.2775G>T (p.Gly925=)
|
rs373502685
|
0.00014
|
|
NM_017757.3(ZNF407):c.6697G>A (p.Ala2233Thr)
|
rs377200520
|
0.00014
|
|
NM_017780.4(CHD7):c.1326C>A (p.Ala442=)
|
rs370097651
|
0.00014
|
|
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr)
|
rs200806228
|
0.00014
|
|
NM_018026.4(PACS1):c.535-5C>T
|
rs144180500
|
0.00014
|
|
NM_018062.4(FANCL):c.1021-6T>C
|
rs377052216
|
0.00014
|
|
NM_018451.5(CENPJ):c.1231C>T (p.Pro411Ser)
|
rs145433187
|
0.00014
|
|
NM_018451.5(CENPJ):c.2500C>T (p.Leu834=)
|
rs148738982
|
0.00014
|
|
NM_019066.5(MAGEL2):c.680C>T (p.Thr227Ile)
|
rs761097102
|
0.00014
|
|
NM_020461.4(TUBGCP6):c.1119G>A (p.Pro373=)
|
rs144698883
|
0.00014
|
|
NM_020461.4(TUBGCP6):c.2489C>T (p.Thr830Met)
|
rs758201280
|
0.00014
|
|
NM_020639.3(RIPK4):c.1417A>G (p.Thr473Ala)
|
rs778801615
|
0.00014
|
|
NM_020975.6(RET):c.1668C>G (p.Ser556=)
|
rs141771814
|
0.00014
|
|
NM_020987.5(ANK3):c.11159C>T (p.Thr3720Met)
|
rs201547988
|
0.00014
|
|
NM_020987.5(ANK3):c.11251A>G (p.Ser3751Gly)
|
rs200489439
|
0.00014
|
|
NM_020987.5(ANK3):c.2385T>C (p.Asn795=)
|
rs372094828
|
0.00014
|
|
NM_021008.4(DEAF1):c.1182C>T (p.Tyr394=)
|
rs202179285
|
0.00014
|
|
NM_021956.5(GRIK2):c.924T>C (p.Asp308=)
|
rs146795156
|
0.00014
|
|
NM_022051.3(EGLN1):c.276G>C (p.Glu92Asp)
|
rs992728216
|
0.00014
|
|
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu)
|
rs201327209
|
0.00014
|
|
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys)
|
rs4983379
|
0.00014
|
|
NM_022552.5(DNMT3A):c.1491T>C (p.Cys497=)
|
rs375421208
|
0.00014
|
|
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
|
rs145718265
|
0.00014
|
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
|
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu)
|
rs146711478
|
0.00014
|
|
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)
|
rs372190684
|
0.00014
|
|
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)
|
rs182080501
|
0.00014
|
|
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn)
|
rs147844401
|
0.00014
|
|
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys)
|
rs139967004
|
0.00014
|
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
|
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr)
|
rs142027515
|
0.00014
|
|
NM_032444.4(SLX4):c.*1T>C
|
rs559903847
|
0.00014
|
|
NM_032638.5(GATA2):c.639C>T (p.Tyr213=)
|
rs372455331
|
0.00014
|
|
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)
|
rs200440893
|
0.00014
|
|
NM_133444.3(ZNF526):c.1458C>T (p.His486=)
|
rs145696319
|
0.00014
|
|
NM_138386.3(NAF1):c.879-7C>G
|
rs201700729
|
0.00014
|
|
NM_138501.6(TECR):c.552C>T (p.Tyr184=)
|
rs117833765
|
0.00014
|
|
NM_144508.5(KNL1):c.5974G>T (p.Ala1992Ser)
|
rs200052077
|
0.00014
|
|
NM_144508.5(KNL1):c.89C>T (p.Pro30Leu)
|
rs200234622
|
0.00014
|
|
NM_144969.3(ZDHHC15):c.450-4G>A
|
rs199542638
|
0.00014
|
|
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)
|
rs150767461
|
0.00014
|
|
NM_181303.2(NLGN3):c.21G>A (p.Pro7=)
|
rs372993497
|
0.00014
|
|
NM_198253.3(TERT):c.645C>T (p.Gly215=)
|
rs768426236
|
0.00014
|
|
NM_201525.4(ADGRG1):c.1647C>T (p.Gly549=)
|
rs2278808
|
0.00014
|
|
NM_203447.4(DOCK8):c.763C>A (p.Pro255Thr)
|
rs754843805
|
0.00014
|
|
NM_206937.2(LIG4):c.2518A>G (p.Ile840Val)
|
rs200369995
|
0.00014
|
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
|
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)
|
rs121907993
|
0.00013
|
|
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)
|
rs192491153
|
0.00013
|
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
|
NM_000162.5(GCK):c.1288C>T (p.Leu430=)
|
rs193922276
|
0.00013
|
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
|
NM_000198.4(HSD3B2):c.308-8G>A
|
rs371712928
|
0.00013
|
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
|
NM_000314.6(PTEN):c.-859A>G
|
rs876661029
|
0.00013
|
|
NM_000314.8(PTEN):c.-734G>A
|
rs786205432
|
0.00013
|
|
NM_000352.6(ABCC8):c.1818-6G>A
|
rs368708177
|
0.00013
|
|
NM_000352.6(ABCC8):c.4464G>A (p.Leu1488=)
|
rs374880588
|
0.00013
|
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
|
NM_000545.8(HNF1A):c.-96T>G
|
rs576862555
|
0.00013
|
|
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val)
|
rs201934320
|
0.00013
|
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
|
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu)
|
rs183614500
|
0.00013
|
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
|
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=)
|
rs371412466
|
0.00013
|
|
NM_001018115.3(FANCD2):c.2976+6T>C
|
rs201875004
|
0.00013
|
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
|
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=)
|
rs185389157
|
0.00013
|
|
NM_001080.3(ALDH5A1):c.*7T>C
|
rs199767765
|
0.00013
|
|
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=)
|
rs373906889
|
0.00013
|
|
NM_001083961.2(WDR62):c.391-10C>T
|
rs201568145
|
0.00013
|
|
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)
|
rs199911951
|
0.00013
|
|
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=)
|
rs373625856
|
0.00013
|
|
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)
|
rs375205247
|
0.00013
|
|
NM_001110792.2(MECP2):c.789C>T (p.Pro263=)
|
rs63582063
|
0.00013
|
|
NM_001123385.2(BCOR):c.519C>T (p.Ser173=)
|
rs138917640
|
0.00013
|
|
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)
|
rs554675432
|
0.00013
|
|
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile)
|
rs377689383
|
0.00013
|
|
NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=)
|
rs7124179
|
0.00013
|
|
NM_001194998.2(CEP152):c.685A>C (p.Asn229His)
|
rs147595936
|
0.00013
|
|
NM_001197104.2(KMT2A):c.10113G>A (p.Arg3371=)
|
rs369292004
|
0.00013
|
|
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn)
|
rs375972461
|
0.00013
|
|
NM_001244008.2(KIF1A):c.714G>A (p.Thr238=)
|
rs201970806
|
0.00013
|
|
NM_001247997.2(CLIP1):c.458C>T (p.Thr153Met)
|
rs774785991
|
0.00013
|
|
NM_001276270.2(MBD4):c.368C>T (p.Ser123Leu)
|
rs201341528
|
0.00013
|
|
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)
|
rs80293130
|
0.00013
|
|
NM_001353108.3(CEP63):c.1633A>G (p.Thr545Ala)
|
rs1017109847
|
0.00013
|
|
NM_001353108.3(CEP63):c.962A>T (p.Tyr321Phe)
|
rs367734078
|
0.00013
|
|
NM_001363.5(DKC1):c.1431G>A (p.Lys477=)
|
rs3752356
|
0.00013
|
|
NM_001364905.1(LRBA):c.2811G>A (p.Arg937=)
|
rs367738505
|
0.00013
|
|
NM_001365999.1(SZT2):c.8039G>A (p.Arg2680His)
|
rs144218947
|
0.00013
|
|
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=)
|
rs201607054
|
0.00013
|
|
NM_001367721.1(CASK):c.2442G>A (p.Ala814=)
|
rs141158465
|
0.00013
|
|
NM_001372044.2(SHANK3):c.1398C>G (p.Pro466=)
|
rs371565755
|
0.00013
|
|
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=)
|
rs199679500
|
0.00013
|
|
NM_001429.4(EP300):c.1782G>C (p.Thr594=)
|
rs17002307
|
0.00013
|
|
NM_001807.6(CEL):c.1998C>G (p.Gly666=)
|
rs35171271
|
0.00013
|
|
NM_002025.4(AFF2):c.3589G>A (p.Ala1197Thr)
|
rs373659849
|
0.00013
|
|
NM_002354.3(EPCAM):c.76+6G>T
|
rs774722931
|
0.00013
|
|
NM_002439.5(MSH3):c.1194C>T (p.Gly398=)
|
rs141118996
|
0.00013
|
|
NM_002519.3(NPAT):c.*939A>G
|
rs187939321
|
0.00013
|
|
NM_002666.5(PLIN1):c.771+6T>C
|
rs202141842
|
0.00013
|
|
NM_002691.4(POLD1):c.1017G>T (p.Ser339=)
|
rs373404887
|
0.00013
|
|
NM_002691.4(POLD1):c.2727G>A (p.Lys909=)
|
rs753176146
|
0.00013
|
|
NM_002948.5(RPL15):c.563G>A (p.Arg188His)
|
rs376990079
|
0.00013
|
|
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)
|
rs536108231
|
0.00013
|
|
NM_003355.3(UCP2):c.816-2A>G
|
rs150573868
|
0.00013
|
|
NM_003482.4(KMT2D):c.15558C>T (p.His5186=)
|
rs2024
|
0.00013
|
|
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)
|
rs747626591
|
0.00013
|
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
|
NM_004260.4(RECQL4):c.2261G>A (p.Arg754Gln)
|
rs190061994
|
0.00013
|
|
NM_004304.5(ALK):c.1626G>C (p.Pro542=)
|
rs143916398
|
0.00013
|
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
|
NM_004380.3(CREBBP):c.4280+8T>C
|
rs376814421
|
0.00013
|
|
NM_004408.4(DNM1):c.849+6C>T
|
rs527412689
|
0.00013
|
|
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)
|
rs371221714
|
0.00013
|
|
NM_004826.4(ECEL1):c.1506+6G>T
|
rs72482107
|
0.00013
|
|
NM_004830.4(MED23):c.2529C>A (p.Leu843=)
|
rs561658259
|
0.00013
|
|
NM_004933.3(CDH15):c.107G>A (p.Arg36Gln)
|
rs367770505
|
0.00013
|
|
NM_004933.3(CDH15):c.1320G>A (p.Ala440=)
|
rs373183010
|
0.00013
|
|
NM_005188.4(CBL):c.-5A>G
|
rs552214111
|
0.00013
|
|
NM_005236.3(ERCC4):c.973+11A>T
|
rs185779788
|
0.00013
|
|
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=)
|
rs122453118
|
0.00013
|
|
NM_005886.3(KATNB1):c.183C>T (p.Gly61=)
|
rs188837487
|
0.00013
|
|
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp)
|
rs200174202
|
0.00013
|
|
NM_006231.4(POLE):c.2935C>T (p.Leu979=)
|
rs56081968
|
0.00013
|
|
NM_006279.5(ST3GAL3):c.397+6T>G
|
rs370838456
|
0.00013
|
|
NM_006361.6(HOXB13):c.474G>A (p.Pro158=)
|
rs35033273
|
0.00013
|
|
NM_006420.3(ARFGEF2):c.2640G>A (p.Pro880=)
|
rs368844677
|
0.00013
|
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
|
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln)
|
rs556191085
|
0.00013
|
|
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser)
|
rs201221600
|
0.00013
|
|
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)
|
rs62625305
|
0.00013
|
|
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser)
|
rs145541719
|
0.00013
|
|
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp)
|
rs141436429
|
0.00013
|
|
NM_012309.5(SHANK2):c.4296G>A (p.Pro1432=)
|
rs559537625
|
0.00013
|
|
NM_012309.5(SHANK2):c.4518G>A (p.Thr1506=)
|
rs549362182
|
0.00013
|
|
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly)
|
rs550420394
|
0.00013
|
|
NM_014141.6(CNTNAP2):c.1777+7G>A
|
rs770951811
|
0.00013
|
|
NM_014271.4(IL1RAPL1):c.784T>G (p.Ser262Ala)
|
rs150439009
|
0.00013
|
|
NM_014915.3(ANKRD26):c.110A>G (p.Gln37Arg)
|
rs543170486
|
0.00013
|
|
NM_015080.4(NRXN2):c.359A>C (p.Asp120Ala)
|
rs1324262269
|
0.00013
|
|
NM_015215.4(CAMTA1):c.2568G>A (p.Ser856=)
|
rs374177752
|
0.00013
|
|
NM_015634.4(KIFBP):c.29G>T (p.Cys10Phe)
|
rs553587755
|
0.00013
|
|
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)
|
rs377461918
|
0.00013
|
|
NM_016219.5(MAN1B1):c.213C>G (p.Cys71Trp)
|
rs575361734
|
0.00013
|
|
NM_016302.4(CRBN):c.654A>G (p.Gln218=)
|
rs373145132
|
0.00013
|
|
NM_017654.4(SAMD9):c.579G>A (p.Pro193=)
|
rs142131920
|
0.00013
|
|
NM_017721.5(CC2D1A):c.60+10C>A
|
rs769120532
|
0.00013
|
|
NM_017721.5(CC2D1A):c.959C>A (p.Pro320Gln)
|
rs765282375
|
0.00013
|
|
NM_017757.3(ZNF407):c.2493T>A (p.Asp831Glu)
|
rs202084477
|
0.00013
|
|
NM_017838.4(NHP2):c.-10G>T
|
rs371173524
|
0.00013
|
|
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu)
|
rs149726602
|
0.00013
|
|
NM_018129.4(PNPO):c.98A>T (p.Asp33Val)
|
rs370243877
|
0.00013
|
|
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=)
|
rs148964635
|
0.00013
|
|
NM_018249.6(CDK5RAP2):c.1892C>G (p.Ser631Cys)
|
rs376225756
|
0.00013
|
|
NM_020699.4(GATAD2B):c.544C>T (p.Leu182=)
|
rs368676576
|
0.00013
|
|
NM_020987.5(ANK3):c.1789-10G>A
|
rs200791367
|
0.00013
|
|
NM_021120.4(DLG3):c.2295G>A (p.Lys765=)
|
rs200152610
|
0.00013
|
|
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)
|
rs375195621
|
0.00013
|
|
NM_022095.4(ZNF335):c.648G>A (p.Pro216=)
|
rs201180565
|
0.00013
|
|
NM_022762.5(RMND5B):c.*1673G>A
|
rs150844606
|
0.00013
|
|
NM_024306.5(FA2H):c.*6C>G
|
rs367686182
|
0.00013
|
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
|
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met)
|
rs200237137
|
0.00013
|
|
NM_025009.5(CEP135):c.3320G>A (p.Arg1107Gln)
|
rs745603844
|
0.00013
|
|
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln)
|
rs201592575
|
0.00013
|
|
NM_030632.3(ASXL3):c.4845G>T (p.Arg1615Ser)
|
rs199888171
|
0.00013
|
|
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg)
|
rs755572135
|
0.00013
|
|
NM_030787.4(CFHR5):c.533A>G (p.Asn178Ser)
|
rs200427185
|
0.00013
|
|
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)
|
rs376103979
|
0.00013
|
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
|
NM_032531.4(KIRREL3):c.1386G>A (p.Ser462=)
|
rs377743404
|
0.00013
|
|
NM_032638.5(GATA2):c.1143+11C>T
|
rs367569053
|
0.00013
|
|
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His)
|
rs181034787
|
0.00013
|
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
|
NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His)
|
rs150464408
|
0.00013
|
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
|
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu)
|
rs201723380
|
0.00013
|
|
NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu)
|
rs139732310
|
0.00013
|
|
NM_153252.5(BRWD3):c.573C>T (p.Ser191=)
|
rs187384754
|
0.00013
|
|
NM_173630.4(RTTN):c.590G>A (p.Ser197Asn)
|
rs549561642
|
0.00013
|
|
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)
|
rs141263831
|
0.00013
|
|
NM_198253.3(TERT):c.2370C>T (p.Val790=)
|
rs376251639
|
0.00013
|
|
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)
|
rs149668719
|
0.00013
|
|
NM_201525.4(ADGRG1):c.-11G>A
|
rs112775979
|
0.00013
|
|
NM_203447.4(DOCK8):c.1016C>T (p.Pro339Leu)
|
rs145716710
|
0.00013
|
|
NM_203447.4(DOCK8):c.1800C>A (p.Val600=)
|
rs148177924
|
0.00013
|
|
NM_203447.4(DOCK8):c.4998G>C (p.Val1666=)
|
rs370901183
|
0.00013
|
|
NM_207346.3(TSEN54):c.1057C>T (p.Arg353Trp)
|
rs200540627
|
0.00013
|
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
|
NM_000059.4(BRCA2):c.7278T>A (p.Ile2426=)
|
rs372377916
|
0.00012
|
|
NM_000081.4(LYST):c.8151T>C (p.Ile2717=)
|
rs201045270
|
0.00012
|
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
|
NM_000162.5(GCK):c.-299A>G
|
rs765620490
|
0.00012
|
|
NM_000208.4(INSR):c.3591G>C (p.Leu1197=)
|
rs776228235
|
0.00012
|
|
NM_000249.4(MLH1):c.1050A>G (p.Pro350=)
|
rs137937003
|
0.00012
|
|
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=)
|
rs200435277
|
0.00012
|
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
|
NM_000479.5(AMH):c.350G>A (p.Arg117Gln)
|
rs185020288
|
0.00012
|
|
NM_000535.7(PMS2):c.1320A>G (p.Pro440=)
|
rs138697590
|
0.00012
|
|
NM_000546.6(TP53):c.-111A>G
|
rs17884410
|
0.00012
|
|
NM_001008537.3(NEXMIF):c.1854G>A (p.Glu618=)
|
rs142687313
|
0.00012
|
|
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp)
|
rs200783308
|
0.00012
|
|
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=)
|
rs199925238
|
0.00012
|
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
|
NM_001110556.2(FLNA):c.5787G>A (p.Pro1929=)
|
rs376974488
|
0.00012
|
|
NM_001110556.2(FLNA):c.7305C>T (p.Tyr2435=)
|
rs782750091
|
0.00012
|
|
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)
|
rs148744894
|
0.00012
|
|
NM_001113525.2(ZNF276):c.*1313A>G
|
rs368376237
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
|
NM_001129820.2(SLFN14):c.1358A>G (p.Asn453Ser)
|
rs753345092
|
0.00012
|
|
NM_001160372.4(TRAPPC9):c.543G>A (p.Pro181=)
|
rs149504969
|
0.00012
|
|
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala)
|
rs201671718
|
0.00012
|
|
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=)
|
rs370244846
|
0.00012
|
|
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)
|
rs146219199
|
0.00012
|
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
|
NM_001267550.2(TTN):c.51887G>A (p.Arg17296His)
|
rs200456782
|
0.00012
|
|
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)
|
rs199629314
|
0.00012
|
|
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu)
|
rs199698251
|
0.00012
|
|
NM_001283009.2(RTEL1):c.2874C>A (p.Pro958=)
|
rs369953611
|
0.00012
|
|
NM_001330078.2(NRXN1):c.772+1050C>A
|
rs367919055
|
0.00012
|
|
NM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro)
|
rs762898505
|
0.00012
|
|
NM_001364905.1(LRBA):c.6848A>T (p.Asp2283Val)
|
rs147096866
|
0.00012
|
|
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile)
|
rs200470541
|
0.00012
|
|
NM_001367624.2(ZNF469):c.5266G>A (p.Ala1756Thr)
|
rs371328036
|
0.00012
|
|
NM_001368397.1(FRMPD4):c.2256C>T (p.Asp752=)
|
rs190804327
|
0.00012
|
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00012
|
|
NM_002025.4(AFF2):c.1834C>G (p.His612Asp)
|
rs376847375
|
0.00012
|
|
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=)
|
rs199634608
|
0.00012
|
|
NM_003179.3(SYP):c.5T>A (p.Leu2Gln)
|
rs200470034
|
0.00012
|
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
|
NM_004456.5(EZH2):c.1884C>G (p.Gly628=)
|
rs61732846
|
0.00012
|
|
NM_004629.2(FANCG):c.1865T>C (p.Leu622Pro)
|
rs771669019
|
0.00012
|
|
NM_005120.3(MED12):c.4488C>T (p.Arg1496=)
|
rs531754497
|
0.00012
|
|
NM_005186.4(CAPN1):c.1605+5G>A
|
rs375817528
|
0.00012
|
|
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)
|
rs146705974
|
0.00012
|
|
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)
|
rs375860375
|
0.00012
|
|
NM_005249.5(FOXG1):c.1161G>A (p.Ser387=)
|
rs147154860
|
0.00012
|
|
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)
|
rs782484757
|
0.00012
|
|
NM_005373.3(MPL):c.391+5G>C
|
rs752453717
|
0.00012
|
|
NM_005491.5(MAMLD1):c.2112G>A (p.Pro704=)
|
rs186596666
|
0.00012
|
|
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=)
|
rs536281306
|
0.00012
|
|
NM_006031.6(PCNT):c.9030A>G (p.Lys3010=)
|
rs138791485
|
0.00012
|
|
NM_006031.6(PCNT):c.9866T>C (p.Leu3289Ser)
|
rs199737174
|
0.00012
|
|
NM_006059.4(LAMC3):c.944G>A (p.Arg315Gln)
|
rs45444592
|
0.00012
|
|
NM_006231.4(POLE):c.5812-11_5812-10del
|
rs745976640
|
0.00012
|
|
NM_006772.3(SYNGAP1):c.447A>G (p.Lys149=)
|
rs544817923
|
0.00012
|
|
NM_006950.3(SYN1):c.319G>A (p.Gly107Ser)
|
rs765045862
|
0.00012
|
|
NM_007059.4(KPTN):c.1168G>A (p.Val390Met)
|
rs201244068
|
0.00012
|
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
|
NM_012156.2(EPB41L1):c.1626C>T (p.Pro542=)
|
rs112471399
|
0.00012
|
|
NM_012233.3(RAB3GAP1):c.-4C>T
|
rs202050016
|
0.00012
|
|
NM_012414.4(RAB3GAP2):c.465C>T (p.Cys155=)
|
rs144263040
|
0.00012
|
|
NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu)
|
rs374369335
|
0.00012
|
|
NM_014264.5(PLK4):c.618C>T (p.Ile206=)
|
rs199907384
|
0.00012
|
|
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)
|
rs147693839
|
0.00012
|
|
NM_015450.3(POT1):c.670G>A (p.Asp224Asn)
|
rs202187871
|
0.00012
|
|
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)
|
rs141601766
|
0.00012
|
|
NM_016373.4(WWOX):c.898A>G (p.Asn300Asp)
|
rs374541202
|
0.00012
|
|
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)
|
rs200088377
|
0.00012
|
|
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)
|
rs201920319
|
0.00012
|
|
NM_018026.4(PACS1):c.1293+6C>T
|
rs369639320
|
0.00012
|
|
NM_018136.5(ASPM):c.4066-32T>C
|
rs143351980
|
0.00012
|
|
NM_018249.6(CDK5RAP2):c.4399A>G (p.Ile1467Val)
|
rs139924571
|
0.00012
|
|
NM_018341.3(ERMARD):c.1200A>T (p.Arg400Ser)
|
rs139634957
|
0.00012
|
|
NM_018451.5(CENPJ):c.1623C>T (p.Pro541=)
|
rs367566036
|
0.00012
|
|
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
|
rs201017015
|
0.00012
|
|
NM_021252.5(RAB18):c.207G>A (p.Arg69=)
|
rs770109036
|
0.00012
|
|
NM_021784.5(FOXA2):c.198G>A (p.Ala66=)
|
rs146538183
|
0.00012
|
|
NM_024301.5(FKRP):c.954C>T (p.Cys318=)
|
rs755968761
|
0.00012
|
|
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met)
|
rs539491399
|
0.00012
|
|
NM_025009.5(CEP135):c.1920G>A (p.Ser640=)
|
rs375822537
|
0.00012
|
|
NM_031407.7(HUWE1):c.10824C>G (p.Leu3608=)
|
rs191407530
|
0.00012
|
|
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=)
|
rs61754142
|
0.00012
|
|
NM_032444.4(SLX4):c.2235C>T (p.Thr745=)
|
rs75184268
|
0.00012
|
|
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)
|
rs375451955
|
0.00012
|
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
|
NM_138982.4(MAPK10):c.21C>A (p.Tyr7Ter)
|
rs141835386
|
0.00012
|
|
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)
|
rs375399419
|
0.00012
|
|
NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys)
|
rs143787982
|
0.00012
|
|
NM_198252.3(GSN):c.1782G>A (p.Leu594=)
|
rs139239940
|
0.00012
|
|
NM_198253.3(TERT):c.2076C>A (p.Thr692=)
|
rs748724920
|
0.00012
|
|
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp)
|
rs201278290
|
0.00012
|
|
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg)
|
rs373741981
|
0.00012
|
|
NM_000038.6(APC):c.277C>G (p.Leu93Val)
|
rs201567345
|
0.00011
|
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
|
NM_000051.4(ATM):c.6348-8T>C
|
rs730881292
|
0.00011
|
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
|
NM_000057.4(BLM):c.1086C>T (p.Asp362=)
|
rs375632163
|
0.00011
|
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
|
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)
|
rs79483201
|
0.00011
|
|
NM_000096.4(CP):c.1493A>G (p.Gln498Arg)
|
rs17847018
|
0.00011
|
|
NM_000135.4(FANCA):c.1683G>A (p.Thr561=)
|
rs143451067
|
0.00011
|
|
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)
|
rs376103033
|
0.00011
|
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
|
NM_000141.5(FGFR2):c.625-10A>G
|
rs201512833
|
0.00011
|
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
|
NM_000208.4(INSR):c.225C>T (p.Asp75=)
|
rs41352749
|
0.00011
|
|
NM_000208.4(INSR):c.2766C>T (p.Ser922=)
|
rs145713001
|
0.00011
|
|
NM_000240.4(MAOA):c.412-6C>G
|
rs369122751
|
0.00011
|
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
|
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)
|
rs587783806
|
0.00011
|
|
NM_000268.4(NF2):c.465C>T (p.Pro155=)
|
rs374911526
|
0.00011
|
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
|
NM_000276.4(OCRL):c.481G>A (p.Asp161Asn)
|
rs372298378
|
0.00011
|
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
|
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys)
|
rs144705160
|
0.00011
|
|
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)
|
rs199638166
|
0.00011
|
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
|
NM_000489.6(ATRX):c.1032C>T (p.Ser344=)
|
rs143491422
|
0.00011
|
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
|
NM_000546.6(TP53):c.217G>A (p.Val73Met)
|
rs587782423
|
0.00011
|
|
NM_000546.6(TP53):c.97-9C>T
|
rs202217267
|
0.00011
|
|
NM_000552.5(VWF):c.858C>T (p.Thr286=)
|
rs776206258
|
0.00011
|
|
NM_000666.3(ACY1):c.480_493dup (p.His165fs)
|
rs769746453
|
0.00011
|
|
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His)
|
rs781687346
|
0.00011
|
|
NM_000996.4(RPL35A):c.*6C>T
|
rs116874993
|
0.00011
|
|
NM_001008537.3(NEXMIF):c.3402C>A (p.His1134Gln)
|
rs138632224
|
0.00011
|
|
NM_001011.4(RPS7):c.459C>G (p.Leu153=)
|
rs777622518
|
0.00011
|
|
NM_001022.4(RPS19):c.387A>G (p.Arg129=)
|
rs782546942
|
0.00011
|
|
NM_001032221.6(STXBP1):c.561G>A (p.Pro187=)
|
rs972703931
|
0.00011
|
|
NM_001042492.3(NF1):c.1005T>C (p.Asn335=)
|
rs777369021
|
0.00011
|
|
NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser)
|
rs376471064
|
0.00011
|
|
NM_001077365.2(POMT1):c.921G>T (p.Leu307=)
|
rs371243573
|
0.00011
|
|
NM_001083961.2(WDR62):c.1342T>A (p.Ser448Thr)
|
rs144072948
|
0.00011
|
|
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=)
|
rs200990844
|
0.00011
|
|
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met)
|
rs782549299
|
0.00011
|
|
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=)
|
rs753786462
|
0.00011
|
|
NM_001127208.3(TET2):c.2199C>T (p.Ser733=)
|
rs145194380
|
0.00011
|
|
NM_001127208.3(TET2):c.4715G>A (p.Arg1572Gln)
|
rs201570239
|
0.00011
|
|
NM_001128840.3(CACNA1D):c.6100C>T (p.Arg2034Trp)
|
rs142692903
|
0.00011
|
|
NM_001160372.4(TRAPPC9):c.1194C>T (p.Ile398=)
|
rs587780484
|
0.00011
|
|
NM_001160372.4(TRAPPC9):c.1980C>T (p.Asn660=)
|
rs146730222
|
0.00011
|
|
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys)
|
rs368383341
|
0.00011
|
|
NM_001184880.2(PCDH19):c.1107C>T (p.Ala369=)
|
rs199879056
|
0.00011
|
|
NM_001190417.2(ZNF674):c.16-7G>A
|
rs200824131
|
0.00011
|
|
NM_001197104.2(KMT2A):c.9769T>C (p.Leu3257=)
|
rs138046203
|
0.00011
|
|
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)
|
rs375307187
|
0.00011
|
|
NM_001247997.2(CLIP1):c.700A>T (p.Thr234Ser)
|
rs758764782
|
0.00011
|
|
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp)
|
rs144672482
|
0.00011
|
|
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)
|
rs181957743
|
0.00011
|
|
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)
|
rs200732032
|
0.00011
|
|
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)
|
rs373210484
|
0.00011
|
|
NM_001323289.2(CDKL5):c.283-13A>G
|
rs587783404
|
0.00011
|
|
NM_001365999.1(SZT2):c.5772G>T (p.Leu1924=)
|
rs187188981
|
0.00011
|
|
NM_001367721.1(CASK):c.2433C>T (p.His811=)
|
rs371990384
|
0.00011
|
|
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)
|
rs141679530
|
0.00011
|
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
|
NM_001374828.1(ARID1B):c.7011A>G (p.Glu2337=)
|
rs756043689
|
0.00011
|
|
NM_001375405.1(CEP120):c.316A>C (p.Lys106Gln)
|
rs568081479
|
0.00011
|
|
NM_001376.5(DYNC1H1):c.13113C>T (p.Asp4371=)
|
rs372518648
|
0.00011
|
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853
|
0.00011
|
|
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met)
|
rs199682595
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.784G>A (p.Asp262Asn)
|
rs758661538
|
0.00011
|
|
NM_001379110.1(SLC9A6):c.338A>G (p.Asn113Ser)
|
rs377126261
|
0.00011
|
|
NM_001382347.1(MYO5A):c.3568-4C>T
|
rs144406001
|
0.00011
|
|
NM_001754.5(RUNX1):c.1005G>T (p.Gln335His)
|
rs80314254
|
0.00011
|
|
NM_001813.3(CENPE):c.4995G>A (p.Thr1665=)
|
rs142875576
|
0.00011
|
|
NM_001987.5(ETV6):c.741G>A (p.Ala247=)
|
rs571926464
|
0.00011
|
|
NM_002024.6(FMR1):c.1751G>A (p.Cys584Tyr)
|
rs587780338
|
0.00011
|
|
NM_002168.4(IDH2):c.360G>A (p.Glu120=)
|
rs536071174
|
0.00011
|
|
NM_002397.5(MEF2C):c.642C>T (p.Asn214=)
|
rs79455305
|
0.00011
|
|
NM_002473.6(MYH9):c.5277C>T (p.Ile1759=)
|
rs183105164
|
0.00011
|
|
NM_002485.5(NBN):c.1035C>T (p.Gly345=)
|
rs146605798
|
0.00011
|
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
|
NM_002500.5(NEUROD1):c.900C>T (p.Thr300=)
|
rs149047988
|
0.00011
|
|
NM_002582.4(PARN):c.1613G>C (p.Arg538Pro)
|
rs377199187
|
0.00011
|
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
|
NM_003072.5(SMARCA4):c.1236C>T (p.Phe412=)
|
rs140000691
|
0.00011
|
|
NM_003355.3(UCP2):c.79G>A (p.Ala27Thr)
|
rs201315561
|
0.00011
|
|
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser)
|
rs373071174
|
0.00011
|
|
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu)
|
rs371421459
|
0.00011
|
|
NM_003482.4(KMT2D):c.8973C>T (p.Pro2991=)
|
rs375466241
|
0.00011
|
|
NM_003611.3(OFD1):c.1536A>G (p.Gln512=)
|
rs138532127
|
0.00011
|
|
NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile)
|
rs201801258
|
0.00011
|
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
|
NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=)
|
rs149733911
|
0.00011
|
|
NM_004260.4(RECQL4):c.3394-9T>G
|
rs746656592
|
0.00011
|
|
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=)
|
rs377412651
|
0.00011
|
|
NM_004360.5(CDH1):c.2643C>T (p.Asp881=)
|
rs114708971
|
0.00011
|
|
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=)
|
rs201161108
|
0.00011
|
|
NM_004493.3(HSD17B10):c.259G>A (p.Val87Ile)
|
rs371014686
|
0.00011
|
|
NM_004525.3(LRP2):c.8169C>T (p.Asn2723=)
|
rs200369596
|
0.00011
|
|
NM_004840.3(ARHGEF6):c.1587T>C (p.His529=)
|
rs150446952
|
0.00011
|
|
NM_004933.3(CDH15):c.274C>T (p.Arg92Trp)
|
rs121434540
|
0.00011
|
|
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu)
|
rs200269227
|
0.00011
|
|
NM_005188.4(CBL):c.1432-6C>T
|
rs371919794
|
0.00011
|
|
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=)
|
rs372900932
|
0.00011
|
|
NM_005373.3(MPL):c.769C>T (p.Arg257Cys)
|
rs121913611
|
0.00011
|
|
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=)
|
rs782114947
|
0.00011
|
|
NM_005629.4(SLC6A8):c.826C>T (p.Leu276=)
|
rs138634140
|
0.00011
|
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
|
NM_005912.3(MC4R):c.972C>T (p.Gly324=)
|
rs150448918
|
0.00011
|
|
NM_005921.2(MAP3K1):c.394G>C (p.Asp132His)
|
rs557606535
|
0.00011
|
|
NM_006009.4(TUBA1A):c.96C>T (p.Pro32=)
|
rs139102191
|
0.00011
|
|
NM_006015.6(ARID1A):c.2204G>A (p.Ser735Asn)
|
rs142353005
|
0.00011
|
|
NM_006031.6(PCNT):c.1185T>C (p.Phe395=)
|
rs764314231
|
0.00011
|
|
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys)
|
rs202221024
|
0.00011
|
|
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val)
|
rs146657011
|
0.00011
|
|
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His)
|
rs140416280
|
0.00011
|
|
NM_006059.4(LAMC3):c.3765C>G (p.Ser1255=)
|
rs148370295
|
0.00011
|
|
NM_006060.6(IKZF1):c.558C>T (p.Asp186=)
|
rs368759855
|
0.00011
|
|
NM_006180.6(NTRK2):c.1962G>A (p.Leu654=)
|
rs147669506
|
0.00011
|
|
NM_006420.3(ARFGEF2):c.1953C>T (p.Ile651=)
|
rs377322572
|
0.00011
|
|
NM_006420.3(ARFGEF2):c.4939T>A (p.Ser1647Thr)
|
rs587780281
|
0.00011
|
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
|
NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His)
|
rs201800868
|
0.00011
|
|
NM_006772.3(SYNGAP1):c.1455C>T (p.Arg485=)
|
rs201107225
|
0.00011
|
|
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys)
|
rs375436807
|
0.00011
|
|
NM_007137.5(ZNF81):c.1264G>A (p.Ala422Thr)
|
rs200890712
|
0.00011
|
|
NM_007254.4(PNKP):c.579-4G>A
|
rs371834726
|
0.00011
|
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
|
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)
|
rs56195342
|
0.00011
|
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
|
NM_007347.5(AP4E1):c.1105A>C (p.Thr369Pro)
|
rs149682827
|
0.00011
|
|
NM_012082.4(ZFPM2):c.2430A>T (p.Pro810=)
|
rs200002039
|
0.00011
|
|
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)
|
rs143961484
|
0.00011
|
|
NM_014423.4(AFF4):c.1586C>T (p.Pro529Leu)
|
rs188073736
|
0.00011
|
|
NM_014467.3(SRPX2):c.893G>A (p.Arg298His)
|
rs369663551
|
0.00011
|
|
NM_014915.3(ANKRD26):c.-117G>A
|
rs560384691
|
0.00011
|
|
NM_014915.3(ANKRD26):c.678A>T (p.Ile226=)
|
rs143421550
|
0.00011
|
|
NM_015080.4(NRXN2):c.2883C>T (p.Asn961=)
|
rs184068000
|
0.00011
|
|
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys)
|
rs746340772
|
0.00011
|
|
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val)
|
rs144672735
|
0.00011
|
|
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys)
|
rs373430024
|
0.00011
|
|
NM_016734.3(PAX5):c.1013-7T>C
|
rs369515008
|
0.00011
|
|
NM_016734.3(PAX5):c.244G>A (p.Val82Ile)
|
rs587778589
|
0.00011
|
|
NM_017654.4(SAMD9):c.740T>C (p.Ile247Thr)
|
rs200540593
|
0.00011
|
|
NM_017721.5(CC2D1A):c.2731C>G (p.Arg911Gly)
|
rs200848845
|
0.00011
|
|
NM_017755.6(NSUN2):c.1010A>G (p.Glu337Gly)
|
rs758250936
|
0.00011
|
|
NM_017755.6(NSUN2):c.2271C>T (p.Gly757=)
|
rs375443052
|
0.00011
|
|
NM_017755.6(NSUN2):c.561T>C (p.Pro187=)
|
rs186098993
|
0.00011
|
|
NM_017757.3(ZNF407):c.1184T>G (p.Leu395Trp)
|
rs201998501
|
0.00011
|
|
NM_017757.3(ZNF407):c.3072T>G (p.Phe1024Leu)
|
rs199675086
|
0.00011
|
|
NM_017757.3(ZNF407):c.5936G>A (p.Gly1979Glu)
|
rs542110142
|
0.00011
|
|
NM_018013.4(SOBP):c.265G>A (p.Glu89Lys)
|
rs200006380
|
0.00011
|
|
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp)
|
rs144969324
|
0.00011
|
|
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg)
|
rs186663906
|
0.00011
|
|
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp)
|
rs112946633
|
0.00011
|
|
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)
|
rs563858170
|
0.00011
|
|
NM_020717.5(SHROOM4):c.437G>A (p.Arg146Gln)
|
rs199603614
|
0.00011
|
|
NM_020937.4(FANCM):c.1812C>T (p.Asn604=)
|
rs377473850
|
0.00011
|
|
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)
|
rs146609069
|
0.00011
|
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
|
NM_020975.6(RET):c.957C>A (p.Leu319=)
|
rs149926238
|
0.00011
|
|
NM_021120.4(DLG3):c.573G>A (p.Val191=)
|
rs200883696
|
0.00011
|
|
NM_022095.4(ZNF335):c.4006G>A (p.Val1336Ile)
|
rs372687838
|
0.00011
|
|
NM_022095.4(ZNF335):c.871T>G (p.Ser291Ala)
|
rs371249915
|
0.00011
|
|
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)
|
rs771333733
|
0.00011
|
|
NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly)
|
rs759545352
|
0.00011
|
|
NM_024596.5(MCPH1):c.2452+9C>A
|
rs200446680
|
0.00011
|
|
NM_024649.5(BBS1):c.981C>T (p.Pro327=)
|
rs142243482
|
0.00011
|
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
|
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr)
|
rs200875161
|
0.00011
|
|
NM_025009.5(CEP135):c.2534T>C (p.Val845Ala)
|
rs141330867
|
0.00011
|
|
NM_025074.7(FRAS1):c.1535-4G>A
|
rs749569960
|
0.00011
|
|
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe)
|
rs11831931
|
0.00011
|
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
|
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu)
|
rs201214741
|
0.00011
|
|
NM_030632.3(ASXL3):c.195G>A (p.Gly65=)
|
rs371104233
|
0.00011
|
|
NM_030665.4(RAI1):c.1580G>A (p.Arg527His)
|
rs377314203
|
0.00011
|
|
NM_030773.4(TUBB1):c.721C>T (p.Arg241Trp)
|
rs368923302
|
0.00011
|
|
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp)
|
rs200672589
|
0.00011
|
|
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=)
|
rs142904756
|
0.00011
|
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
|
NM_032119.4(ADGRV1):c.11338C>T (p.Arg3780Cys)
|
rs201742794
|
0.00011
|
|
NM_032415.7(CARD11):c.2921G>A (p.Arg974His)
|
rs750407488
|
0.00011
|
|
NM_032444.4(SLX4):c.2160+8C>T
|
rs374004875
|
0.00011
|
|
NM_032444.4(SLX4):c.2241C>T (p.Ala747=)
|
rs143790956
|
0.00011
|
|
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys)
|
rs770020510
|
0.00011
|
|
NM_032531.4(KIRREL3):c.1177G>A (p.Ala393Thr)
|
rs201882059
|
0.00011
|
|
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys)
|
rs367785289
|
0.00011
|
|
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser)
|
rs200535361
|
0.00011
|
|
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
|
NM_139276.3(STAT3):c.2082T>A (p.His694Gln)
|
rs139701269
|
0.00011
|
|
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu)
|
rs369968343
|
0.00011
|
|
NM_173495.3(PTCHD1):c.1767G>A (p.Glu589=)
|
rs139310513
|
0.00011
|
|
NM_173630.4(RTTN):c.2183A>C (p.Asp728Ala)
|
rs370674668
|
0.00011
|
|
NM_173630.4(RTTN):c.309T>C (p.Ala103=)
|
rs554154376
|
0.00011
|
|
NM_173630.4(RTTN):c.5200T>G (p.Ser1734Ala)
|
rs111886844
|
0.00011
|
|
NM_178857.6(RP1L1):c.3925G>T (p.Gly1309Ter)
|
rs758831525
|
0.00011
|
|
NM_181303.2(NLGN3):c.435C>T (p.Asn145=)
|
rs771275997
|
0.00011
|
|
NM_198253.3(TERT):c.3186C>T (p.Ala1062=)
|
rs201067706
|
0.00011
|
|
NM_201525.4(ADGRG1):c.402G>A (p.Pro134=)
|
rs149607882
|
0.00011
|
|
NR_001566.1(TERC):n.-398C>T
|
rs983787295
|
0.00011
|
|
NM_000032.5(ALAS2):c.1103G>A (p.Arg368Gln)
|
rs371716491
|
0.00010
|
|
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr)
|
rs753156183
|
0.00010
|
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
|
NM_000061.3(BTK):c.895-10G>A
|
rs370812397
|
0.00010
|
|
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser)
|
rs376920171
|
0.00010
|
|
NM_000135.4(FANCA):c.342C>T (p.Ala114=)
|
rs777989691
|
0.00010
|
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
|
NM_000195.5(HPS1):c.242A>T (p.Tyr81Phe)
|
rs188320187
|
0.00010
|
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
|
NM_000284.4(PDHA1):c.984T>C (p.Asn328=)
|
rs767503319
|
0.00010
|
|
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
|
NM_000314.8(PTEN):c.579G>A (p.Leu193=)
|
rs568851024
|
0.00010
|
|
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)
|
rs148931779
|
0.00010
|
|
NM_000381.4(MID1):c.229G>A (p.Val77Ile)
|
rs143416243
|
0.00010
|
|
NM_000381.4(MID1):c.302G>A (p.Arg101His)
|
rs202142461
|
0.00010
|
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
|
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=)
|
rs45517331
|
0.00010
|
|
NM_000720.4(CACNA1D):c.1504G>A (p.Ala502Thr)
|
rs773409037
|
0.00010
|
|
NM_000751.3(CHRND):c.1048-7G>T
|
rs369026633
|
0.00010
|
|
NM_000834.5(GRIN2B):c.2172-6G>A
|
rs201390691
|
0.00010
|
|
NM_001010898.4(SLC6A17):c.1105G>A (p.Glu369Lys)
|
rs149884117
|
0.00010
|
|
NM_001015877.2(PHF6):c.414C>T (p.Ser138=)
|
rs200423380
|
0.00010
|
|
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)
|
rs557813179
|
0.00010
|
|
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)
|
rs140363445
|
0.00010
|
|
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu)
|
rs148275498
|
0.00010
|
|
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)
|
rs149534277
|
0.00010
|
|
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=)
|
rs373347369
|
0.00010
|
|
NM_001042492.3(NF1):c.2178G>C (p.Val726=)
|
rs369590240
|
0.00010
|
|
NM_001048166.1(STIL):c.3157G>A (p.Gly1053Ser)
|
rs201354921
|
0.00010
|
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
|
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)
|
rs200363918
|
0.00010
|
|
NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly)
|
rs370277156
|
0.00010
|
|
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu)
|
rs782439813
|
0.00010
|
|
NM_001128840.3(CACNA1D):c.5473C>T (p.Arg1825Trp)
|
rs144688228
|
0.00010
|
|
NM_001160372.4(TRAPPC9):c.1678T>C (p.Leu560=)
|
rs139848315
|
0.00010
|
|
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val)
|
rs769398594
|
0.00010
|
|
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=)
|
rs773740606
|
0.00010
|
|
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu)
|
rs368764302
|
0.00010
|
|
NM_001205254.2(OCLN):c.384C>T (p.Tyr128=)
|
rs150730577
|
0.00010
|
|
NM_001267550.2(TTN):c.31762+4C>T
|
rs368538884
|
0.00010
|
|
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)
|
rs202240487
|
0.00010
|
|
NM_001282531.3(ADNP):c.666C>T (p.His222=)
|
rs539414821
|
0.00010
|
|
NM_001291303.3(FAT4):c.9597T>A (p.Asp3199Glu)
|
rs568003396
|
0.00010
|
|
NM_001318510.2(ACSL4):c.1212G>A (p.Pro404=)
|
rs370509273
|
0.00010
|
|
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)
|
rs55803460
|
0.00010
|
|
NM_001330078.2(NRXN1):c.1050C>G (p.Ala350=)
|
rs201397488
|
0.00010
|
|
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=)
|
rs201886024
|
0.00010
|
|
NM_001330078.2(NRXN1):c.749T>A (p.Phe250Tyr)
|
rs200646155
|
0.00010
|
|
NM_001347721.2(DYRK1A):c.489+9A>G
|
rs187936450
|
0.00010
|
|
NM_001372574.1(ATXN2):c.940G>A (p.Val314Ile)
|
rs148325045
|
0.00010
|
|
NM_001376.5(DYNC1H1):c.11139A>G (p.Leu3713=)
|
rs143642514
|
0.00010
|
|
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)
|
rs145487328
|
0.00010
|
|
NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met)
|
rs201852557
|
0.00010
|
|
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro)
|
rs767987501
|
0.00010
|
|
NM_001379110.1(SLC9A6):c.*12C>T
|
rs190788663
|
0.00010
|
|
NM_001382347.1(MYO5A):c.1476T>C (p.Asn492=)
|
rs765320441
|
0.00010
|
|
NM_001543.5(NDST1):c.2317-4C>G
|
rs186262357
|
0.00010
|
|
NM_001715.3(BLK):c.139C>G (p.Leu47Val)
|
rs202045056
|
0.00010
|
|
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala)
|
rs587780310
|
0.00010
|
|
NM_001813.3(CENPE):c.304C>T (p.His102Tyr)
|
rs758681737
|
0.00010
|
|
NM_001848.3(COL6A1):c.2994C>T (p.Tyr998=)
|
rs148405880
|
0.00010
|
|
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp)
|
rs375093230
|
0.00010
|
|
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)
|
rs140495790
|
0.00010
|
|
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala)
|
rs753002290
|
0.00010
|
|
NM_002473.6(MYH9):c.2679C>A (p.Thr893=)
|
rs145476120
|
0.00010
|
|
NM_002519.3(NPAT):c.946T>C (p.Leu316=)
|
rs377600506
|
0.00010
|
|
NM_002633.3(PGM1):c.1101C>T (p.Asp367=)
|
rs375432694
|
0.00010
|
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
|
NM_003038.5(SLC1A4):c.1520C>A (p.Ser507Ter)
|
rs200617042
|
0.00010
|
|
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=)
|
rs372410282
|
0.00010
|
|
NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=)
|
rs117084604
|
0.00010
|
|
NM_003392.7(WNT5A):c.140+14A>G
|
rs139616809
|
0.00010
|
|
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln)
|
rs587778483
|
0.00010
|
|
NM_003482.4(KMT2D):c.3027G>A (p.Val1009=)
|
rs138227815
|
0.00010
|
|
NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu)
|
rs767236217
|
0.00010
|
|
NM_003491.4(NAA10):c.141C>T (p.Asp47=)
|
rs375877098
|
0.00010
|
|
NM_003560.4(PLA2G6):c.*19C>T
|
rs377191625
|
0.00010
|
|
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)
|
rs200599704
|
0.00010
|
|
NM_003619.4(PRSS12):c.2320+6G>C
|
rs369283461
|
0.00010
|
|
NM_003901.4(SGPL1):c.766A>G (p.Ile256Val)
|
rs759865429
|
0.00010
|
|
NM_004278.4(PIGL):c.354A>G (p.Pro118=)
|
rs149094276
|
0.00010
|
|
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)
|
rs201438531
|
0.00010
|
|
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu)
|
rs191277311
|
0.00010
|
|
NM_004933.3(CDH15):c.2159A>C (p.Glu720Ala)
|
rs370967218
|
0.00010
|
|
NM_005105.5(RBM8A):c.30T>C (p.Ala10=)
|
rs782468768
|
0.00010
|
|
NM_005105.5(RBM8A):c.36C>G (p.Gly12=)
|
rs782599200
|
0.00010
|
|
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=)
|
rs369268877
|
0.00010
|
|
NM_005120.3(MED12):c.6201A>G (p.Gln2067=)
|
rs375793297
|
0.00010
|
|
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr)
|
rs141710973
|
0.00010
|
|
NM_005333.5(HCCS):c.521+7A>G
|
rs372832496
|
0.00010
|
|
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)
|
rs782727601
|
0.00010
|
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
|
NM_005629.4(SLC6A8):c.1496-4G>A
|
rs782589547
|
0.00010
|
|
NM_005881.4(BCKDK):c.1058A>G (p.Asp353Gly)
|
rs200213677
|
0.00010
|
|
NM_006005.3(WFS1):c.1969A>G (p.Met657Val)
|
rs71532861
|
0.00010
|
|
NM_006031.6(PCNT):c.9123G>A (p.Gln3041=)
|
rs753027643
|
0.00010
|
|
NM_006060.6(IKZF1):c.1402C>A (p.Arg468=)
|
rs765741739
|
0.00010
|
|
NM_006180.6(NTRK2):c.1288C>T (p.His430Tyr)
|
rs145968424
|
0.00010
|
|
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro)
|
rs141552148
|
0.00010
|
|
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu)
|
rs772734618
|
0.00010
|
|
NM_006412.4(AGPAT2):c.786C>A (p.Thr262=)
|
rs151215253
|
0.00010
|
|
NM_006517.5(SLC16A2):c.1502A>G (p.His501Arg)
|
rs140303247
|
0.00010
|
|
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys)
|
rs761117623
|
0.00010
|
|
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)
|
rs373922574
|
0.00010
|
|
NM_007259.5(VPS45):c.897A>G (p.Pro299=)
|
rs184193549
|
0.00010
|
|
NM_007294.4(BRCA1):c.*928C>T
|
rs758556342
|
0.00010
|
|
NM_007315.4(STAT1):c.1341C>A (p.Asp447Glu)
|
rs140351189
|
0.00010
|
|
NM_007347.5(AP4E1):c.1825G>C (p.Val609Leu)
|
rs767378180
|
0.00010
|
|
NM_013339.4(ALG6):c.1442A>G (p.Asn481Ser)
|
rs139521934
|
0.00010
|
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
|
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val)
|
rs202209141
|
0.00010
|
|
NM_014423.4(AFF4):c.2445C>T (p.Pro815=)
|
rs138116584
|
0.00010
|
|
NM_014915.3(ANKRD26):c.2005A>G (p.Asn669Asp)
|
rs368602859
|
0.00010
|
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
|
NM_016222.4(DDX41):c.38C>T (p.Thr13Ile)
|
rs61736559
|
0.00010
|
|
NM_016302.4(CRBN):c.16G>C (p.Asp6His)
|
rs756440147
|
0.00010
|
|
NM_016734.3(PAX5):c.1137C>T (p.Ala379=)
|
rs139108915
|
0.00010
|
|
NM_017654.4(SAMD9):c.3215T>C (p.Leu1072Pro)
|
rs144312575
|
0.00010
|
|
NM_017654.4(SAMD9):c.4658T>C (p.Ile1553Thr)
|
rs146732631
|
0.00010
|
|
NM_017755.6(NSUN2):c.1458T>C (p.His486=)
|
rs200925761
|
0.00010
|
|
NM_018136.5(ASPM):c.9577C>T (p.Arg3193Cys)
|
rs140679756
|
0.00010
|
|
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile)
|
rs146873580
|
0.00010
|
|
NM_020247.5(COQ8A):c.626C>T (p.Thr209Met)
|
rs764173526
|
0.00010
|
|
NM_020987.5(ANK3):c.5422A>G (p.Ile1808Val)
|
rs151312085
|
0.00010
|
|
NM_020987.5(ANK3):c.8919T>C (p.Ser2973=)
|
rs553695085
|
0.00010
|
|
NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser)
|
rs56067702
|
0.00010
|
|
NM_022095.4(ZNF335):c.1664C>T (p.Pro555Leu)
|
rs756223963
|
0.00010
|
|
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)
|
rs140229717
|
0.00010
|
|
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu)
|
rs374572943
|
0.00010
|
|
NM_023110.3(FGFR1):c.75G>A (p.Pro25=)
|
rs17175757
|
0.00010
|
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
|
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn)
|
rs201128010
|
0.00010
|
|
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile)
|
rs201405704
|
0.00010
|
|
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=)
|
rs186136373
|
0.00010
|
|
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser)
|
rs143891279
|
0.00010
|
|
NM_024884.3(L2HGDH):c.1155T>G (p.Leu385=)
|
rs141715606
|
0.00010
|
|
NM_024884.3(L2HGDH):c.246G>A (p.Glu82=)
|
rs138070052
|
0.00010
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
|
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His)
|
rs139544666
|
0.00010
|
|
NM_032444.4(SLX4):c.73G>A (p.Gly25Arg)
|
rs201533738
|
0.00010
|
|
NM_032793.5(MFSD2A):c.434A>G (p.Tyr145Cys)
|
rs368599958
|
0.00010
|
|
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser)
|
rs140344071
|
0.00010
|
|
NM_133444.3(ZNF526):c.1675G>A (p.Ala559Thr)
|
rs200018551
|
0.00010
|
|
NM_144508.5(KNL1):c.6284A>G (p.Asn2095Ser)
|
rs371898340
|
0.00010
|
|
NM_144508.5(KNL1):c.910C>T (p.Arg304Trp)
|
rs750955272
|
0.00010
|
|
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr)
|
rs201950472
|
0.00010
|
|
NM_152296.5(ATP1A3):c.2489G>A (p.Arg830Gln)
|
rs368371895
|
0.00010
|
|
NM_152383.5(DIS3L2):c.2608A>G (p.Lys870Glu)
|
rs775252407
|
0.00010
|
|
NM_152564.5(VPS13B):c.10845C>T (p.Ala3615=)
|
rs781485612
|
0.00010
|
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
|
NM_152564.5(VPS13B):c.7266T>C (p.Gly2422=)
|
rs766519309
|
0.00010
|
|
NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln)
|
rs200160724
|
0.00010
|
|
NM_152703.5(SAMD9L):c.515A>G (p.His172Arg)
|
rs371691758
|
0.00010
|
|
NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile)
|
rs143231454
|
0.00010
|
|
NM_173598.6(KSR2):c.1190G>A (p.Arg397His)
|
rs776731615
|
0.00010
|
|
NM_175875.5(SIX5):c.493C>T (p.Leu165=)
|
rs368485758
|
0.00010
|
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
|
NM_198253.3(TERT):c.2475C>T (p.Tyr825=)
|
rs141382603
|
0.00010
|
|
NM_199242.3(UNC13D):c.1626G>A (p.Thr542=)
|
rs371924071
|
0.00010
|
|
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=)
|
rs747812668
|
0.00010
|
|
NM_205850.3(SLC24A5):c.1025C>T (p.Ala342Val)
|
rs199924625
|
0.00010
|
|
NM_207037.2(TCF12):c.897C>T (p.Arg299=)
|
rs143532242
|
0.00010
|
|
NM_000022.4(ADA):c.192G>A (p.Lys64=)
|
rs144168646
|
0.00009
|
|
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)
|
rs374259530
|
0.00009
|
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
|
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)
|
rs199924281
|
0.00009
|
|
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)
|
rs193922109
|
0.00009
|
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
|
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=)
|
rs730881590
|
0.00009
|
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
rs74047012
|
0.00009
|
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
|
NM_000135.4(FANCA):c.1900+7T>A
|
rs377401016
|
0.00009
|
|
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)
|
rs145552439
|
0.00009
|
|
NM_000135.4(FANCA):c.2376T>C (p.Gly792=)
|
rs756138062
|
0.00009
|
|
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)
|
rs55758861
|
0.00009
|
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
|
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)
|
rs138144828
|
0.00009
|
|
NM_000156.6(GAMT):c.258T>C (p.His86=)
|
rs367871393
|
0.00009
|
|
NM_000162.5(GCK):c.-375C>T
|
rs775776110
|
0.00009
|
|
NM_000162.5(GCK):c.1020-19_1020-5dup
|
rs760999682
|
0.00009
|
|
NM_000162.5(GCK):c.9C>T (p.Asp3=)
|
rs142553382
|
0.00009
|
|
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=)
|
rs587780675
|
0.00009
|
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
|
NM_000208.4(INSR):c.2081C>T (p.Ser694Phe)
|
rs574155637
|
0.00009
|
|
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp)
|
rs142391704
|
0.00009
|
|
NM_000208.4(INSR):c.84C>A (p.His28Gln)
|
rs755298967
|
0.00009
|
|
NM_000222.3(KIT):c.2259T>C (p.Thr753=)
|
rs764287169
|
0.00009
|
|
NM_000230.3(LEP):c.276A>G (p.Arg92=)
|
rs201185232
|
0.00009
|
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
|
NM_000330.4(RS1):c.185-3213A>C
|
rs143243059
|
0.00009
|
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00009
|
|
NM_000426.4(LAMA2):c.5670G>T (p.Val1890=)
|
rs374587087
|
0.00009
|
|
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=)
|
rs150596964
|
0.00009
|
|
NM_000458.4(HNF1B):c.1654-9T>A
|
rs200579660
|
0.00009
|
|
NM_000489.6(ATRX):c.1606A>G (p.Met536Val)
|
rs781865069
|
0.00009
|
|
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)
|
rs191563592
|
0.00009
|
|
NM_000516.7(GNAS):c.585+6C>T
|
rs373084986
|
0.00009
|
|
NM_000546.6(TP53):c.474C>T (p.Arg158=)
|
rs139200646
|
0.00009
|
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
|
NM_000553.6(WRN):c.2747A>C (p.His916Pro)
|
rs754985773
|
0.00009
|
|
NM_000760.4(CSF3R):c.1028G>A (p.Arg343Gln)
|
rs369185176
|
0.00009
|
|
NM_000781.3(CYP11A1):c.1158-5C>T
|
rs377242922
|
0.00009
|
|
NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=)
|
rs112265127
|
0.00009
|
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
|
NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu)
|
rs370248837
|
0.00009
|
|
NM_001040142.2(SCN2A):c.1306T>C (p.Leu436=)
|
rs376323449
|
0.00009
|
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
|
NM_001077365.2(POMT1):c.803G>A (p.Arg268His)
|
rs369644530
|
0.00009
|
|
NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys)
|
rs201468340
|
0.00009
|
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
|
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)
|
rs140074813
|
0.00009
|
|
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)
|
rs371707134
|
0.00009
|
|
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile)
|
rs61753966
|
0.00009
|
|
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile)
|
rs377165815
|
0.00009
|
|
NM_001126121.2(SLC25A19):c.591C>G (p.Ser197Arg)
|
rs565794451
|
0.00009
|
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
|
NM_001130004.2(ACTN1):c.1926C>T (p.Ile642=)
|
rs200843690
|
0.00009
|
|
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)
|
rs201476613
|
0.00009
|
|
NM_001160372.4(TRAPPC9):c.1245C>T (p.Cys415=)
|
rs563677377
|
0.00009
|
|
NM_001160372.4(TRAPPC9):c.2921G>A (p.Arg974Gln)
|
rs562020701
|
0.00009
|
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
|
NM_001184.4(ATR):c.7041+4G>C
|
rs113544835
|
0.00009
|
|
NM_001194998.2(CEP152):c.3852T>C (p.Tyr1284=)
|
rs199898600
|
0.00009
|
|
NM_001206999.2(CIT):c.306T>C (p.Leu102=)
|
rs369469959
|
0.00009
|
|
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile)
|
rs371831198
|
0.00009
|
|
NM_001247997.2(CLIP1):c.4066G>A (p.Gly1356Arg)
|
rs201297279
|
0.00009
|
|
NM_001247997.2(CLIP1):c.81G>A (p.Thr27=)
|
rs138117323
|
0.00009
|
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
|
NM_001267550.2(TTN):c.16581C>T (p.Val5527=)
|
rs373179717
|
0.00009
|
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
|
NM_001276270.2(MBD4):c.1160C>T (p.Ser387Leu)
|
rs200169155
|
0.00009
|
|
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)
|
rs149737236
|
0.00009
|
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
|
NM_001291303.3(FAT4):c.7813A>G (p.Ile2605Val)
|
rs745697037
|
0.00009
|
|
NM_001291867.2(NHS):c.1163C>T (p.Ser388Leu)
|
rs150689121
|
0.00009
|
|
NM_001291867.2(NHS):c.766C>G (p.Leu256Val)
|
rs200598087
|
0.00009
|
|
NM_001321142.2(CIDEC):c.160G>A (p.Val54Met)
|
rs148744468
|
0.00009
|
|
NM_001330574.2(ZNF711):c.579T>G (p.Asp193Glu)
|
rs149845917
|
0.00009
|
|
NM_001367916.1(MAGT1):c.-14G>A
|
rs374235131
|
0.00009
|
|
NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=)
|
rs754242891
|
0.00009
|
|
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)
|
rs538791873
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)
|
rs370492044
|
0.00009
|
|
NM_001382347.1(MYO5A):c.*3G>C
|
rs3751617
|
0.00009
|
|
NM_001385875.1(ZFYVE27):c.800C>T (p.Thr267Met)
|
rs376664624
|
0.00009
|
|
NM_001429.4(EP300):c.586A>G (p.Ile196Val)
|
rs148693910
|
0.00009
|
|
NM_001493.3(GDI1):c.1280C>T (p.Thr427Met)
|
rs138939602
|
0.00009
|
|
NM_001715.3(BLK):c.539G>A (p.Arg180His)
|
rs144781247
|
0.00009
|
|
NM_001987.5(ETV6):c.92C>T (p.Thr31Met)
|
rs149994836
|
0.00009
|
|
NM_002291.3(LAMB1):c.4562T>C (p.Ile1521Thr)
|
rs199646967
|
0.00009
|
|
NM_002470.4(MYH3):c.3976-3C>T
|
rs200078403
|
0.00009
|
|
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu)
|
rs145319741
|
0.00009
|
|
NM_002519.3(NPAT):c.2730A>G (p.Pro910=)
|
rs199839501
|
0.00009
|
|
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys)
|
rs201765587
|
0.00009
|
|
NM_002582.4(PARN):c.702+5C>T
|
rs368739970
|
0.00009
|
|
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)
|
rs150286818
|
0.00009
|
|
NM_002691.4(POLD1):c.2100A>G (p.Val700=)
|
rs772468675
|
0.00009
|
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
|
NM_002875.5(RAD51):c.531-12C>T
|
rs752351863
|
0.00009
|
|
NM_003051.4(SLC16A1):c.589C>T (p.Pro197Ser)
|
rs574990589
|
0.00009
|
|
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=)
|
rs144803359
|
0.00009
|
|
NM_003072.5(SMARCA4):c.960C>T (p.Pro320=)
|
rs531365419
|
0.00009
|
|
NM_003356.4(UCP3):c.922C>T (p.Arg308Trp)
|
rs763155375
|
0.00009
|
|
NM_003383.5(VLDLR):c.315A>G (p.Pro105=)
|
rs138500615
|
0.00009
|
|
NM_003560.4(PLA2G6):c.1742+12C>T
|
rs11570739
|
0.00009
|
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
|
NM_004168.4(SDHA):c.1591G>A (p.Val531Met)
|
rs371056571
|
0.00009
|
|
NM_004260.4(RECQL4):c.681C>T (p.Val227=)
|
rs567959067
|
0.00009
|
|
NM_004268.5(MED17):c.1209G>A (p.Lys403=)
|
rs534953424
|
0.00009
|
|
NM_004360.5(CDH1):c.1359C>T (p.His453=)
|
rs114861467
|
0.00009
|
|
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn)
|
rs115729513
|
0.00009
|
|
NM_004380.3(CREBBP):c.681T>C (p.Pro227=)
|
rs201193684
|
0.00009
|
|
NM_004523.4(KIF11):c.193A>G (p.Thr65Ala)
|
rs200410468
|
0.00009
|
|
NM_004525.3(LRP2):c.12296-4G>A
|
rs375166826
|
0.00009
|
|
NM_004646.4(NPHS1):c.3312-7C>T
|
rs376899364
|
0.00009
|
|
NM_004722.4(AP4M1):c.1128C>T (p.Gly376=)
|
rs372787797
|
0.00009
|
|
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly)
|
rs146764714
|
0.00009
|
|
NM_005236.3(ERCC4):c.537A>G (p.Glu179=)
|
rs373408411
|
0.00009
|
|
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr)
|
rs141101671
|
0.00009
|
|
NM_005263.5(GFI1):c.431C>G (p.Ala144Gly)
|
rs533176227
|
0.00009
|
|
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=)
|
rs375755315
|
0.00009
|
|
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)
|
rs376294666
|
0.00009
|
|
NM_005373.3(MPL):c.313T>C (p.Phe105Leu)
|
rs145313814
|
0.00009
|
|
NM_005445.4(SMC3):c.1581T>C (p.His527=)
|
rs182445355
|
0.00009
|
|
NM_005515.4(MNX1):c.975G>A (p.Ala325=)
|
rs369277204
|
0.00009
|
|
NM_005546.4(ITK):c.1282C>A (p.Gln428Lys)
|
rs150270557
|
0.00009
|
|
NM_005677.4(COLQ):c.117C>A (p.Ser39Arg)
|
rs138891500
|
0.00009
|
|
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg)
|
rs200017020
|
0.00009
|
|
NM_006031.6(PCNT):c.236C>T (p.Pro79Leu)
|
rs745598788
|
0.00009
|
|
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr)
|
rs143870030
|
0.00009
|
|
NM_006031.6(PCNT):c.3403C>A (p.Arg1135=)
|
rs143490174
|
0.00009
|
|
NM_006031.6(PCNT):c.4527G>A (p.Ala1509=)
|
rs142020803
|
0.00009
|
|
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val)
|
rs546562229
|
0.00009
|
|
NM_006031.6(PCNT):c.5115G>A (p.Lys1705=)
|
rs141860893
|
0.00009
|
|
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=)
|
rs375741970
|
0.00009
|
|
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile)
|
rs112633352
|
0.00009
|
|
NM_006031.6(PCNT):c.8537C>T (p.Thr2846Met)
|
rs142800204
|
0.00009
|
|
NM_006031.6(PCNT):c.9155A>G (p.Asn3052Ser)
|
rs779546932
|
0.00009
|
|
NM_006059.4(LAMC3):c.1884C>T (p.Leu628=)
|
rs762552193
|
0.00009
|
|
NM_006060.6(IKZF1):c.342C>T (p.Asn114=)
|
rs185632810
|
0.00009
|
|
NM_006086.4(TUBB3):c.534G>A (p.Thr178=)
|
rs143029958
|
0.00009
|
|
NM_006180.6(NTRK2):c.170G>T (p.Arg57Ile)
|
rs758729728
|
0.00009
|
|
NM_006420.3(ARFGEF2):c.695G>A (p.Arg232His)
|
rs140989375
|
0.00009
|
|
NM_006565.4(CTCF):c.2027A>G (p.Gln676Arg)
|
rs143508499
|
0.00009
|
|
NM_006757.4(TNNT3):c.328C>T (p.Arg110Cys)
|
rs144957238
|
0.00009
|
|
NM_006772.3(SYNGAP1):c.2664C>T (p.Ala888=)
|
rs759995681
|
0.00009
|
|
NM_006910.5(RBBP6):c.3101T>C (p.Ile1034Thr)
|
rs199891868
|
0.00009
|
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00009
|
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
|
NM_007254.4(PNKP):c.151+18T>G
|
rs55756709
|
0.00009
|
|
NM_007294.4(BRCA1):c.*1327G>A
|
rs184237074
|
0.00009
|
|
NM_014141.6(CNTNAP2):c.143T>C (p.Phe48Ser)
|
rs551931845
|
0.00009
|
|
NM_014915.3(ANKRD26):c.2559+10T>A
|
rs768668962
|
0.00009
|
|
NM_015107.3(PHF8):c.-4G>A
|
rs782532619
|
0.00009
|
|
NM_015107.3(PHF8):c.2199C>T (p.Ser733=)
|
rs201824053
|
0.00009
|
|
NM_015214.3(DDHD2):c.1744A>T (p.Met582Leu)
|
rs375064450
|
0.00009
|
|
NM_015214.3(DDHD2):c.277T>C (p.Leu93=)
|
rs544728429
|
0.00009
|
|
NM_015275.3(WASHC4):c.141C>T (p.Asp47=)
|
rs368178226
|
0.00009
|
|
NM_015681.6(B9D1):c.341+2T>C
|
rs143149764
|
0.00009
|
|
NM_016032.4(ZDHHC9):c.144A>T (p.Thr48=)
|
rs145877196
|
0.00009
|
|
NM_016222.4(DDX41):c.*63T>C
|
rs937006672
|
0.00009
|
|
NM_016222.4(DDX41):c.690C>G (p.Gly230=)
|
rs144003034
|
0.00009
|
|
NM_016302.4(CRBN):c.20A>G (p.Gln7Arg)
|
rs192011911
|
0.00009
|
|
NM_016302.4(CRBN):c.937G>C (p.Asp313His)
|
rs142337178
|
0.00009
|
|
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys)
|
rs76204496
|
0.00009
|
|
NM_017654.4(SAMD9):c.2616C>A (p.Ile872=)
|
rs147774813
|
0.00009
|
|
NM_017739.4(POMGNT1):c.1285-6C>T
|
rs377292905
|
0.00009
|
|
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu)
|
rs771585740
|
0.00009
|
|
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=)
|
rs148517660
|
0.00009
|
|
NM_018062.4(FANCL):c.-3G>C
|
rs766104531
|
0.00009
|
|
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)
|
rs200116252
|
0.00009
|
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
|
NM_018249.6(CDK5RAP2):c.1382A>G (p.Tyr461Cys)
|
rs140513883
|
0.00009
|
|
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu)
|
rs549081765
|
0.00009
|
|
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg)
|
rs143341041
|
0.00009
|
|
NM_018486.3(HDAC8):c.20C>G (p.Pro7Arg)
|
rs147689487
|
0.00009
|
|
NM_020717.5(SHROOM4):c.2509T>C (p.Tyr837His)
|
rs371649949
|
0.00009
|
|
NM_020921.4(NIN):c.2244C>T (p.Ser748=)
|
rs200278498
|
0.00009
|
|
NM_020921.4(NIN):c.3403G>A (p.Val1135Ile)
|
rs150722174
|
0.00009
|
|
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly)
|
rs561723791
|
0.00009
|
|
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg)
|
rs368937236
|
0.00009
|
|
NM_020975.6(RET):c.961G>A (p.Gly321Arg)
|
rs377767388
|
0.00009
|
|
NM_020987.5(ANK3):c.4314A>G (p.Ala1438=)
|
rs199845615
|
0.00009
|
|
NM_021120.4(DLG3):c.1388C>T (p.Ala463Val)
|
rs371545673
|
0.00009
|
|
NM_021120.4(DLG3):c.873C>T (p.His291=)
|
rs370169893
|
0.00009
|
|
NM_021956.5(GRIK2):c.1266G>A (p.Ala422=)
|
rs376836256
|
0.00009
|
|
NM_022081.6(HPS4):c.373C>G (p.Leu125Val)
|
rs180729981
|
0.00009
|
|
NM_022455.5(NSD1):c.3271C>A (p.Leu1091Ile)
|
rs35597015
|
0.00009
|
|
NM_024426.6(WT1):c.381C>G (p.Pro127=)
|
rs771681406
|
0.00009
|
|
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)
|
rs192003514
|
0.00009
|
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
|
NM_024675.4(PALB2):c.1431C>T (p.Thr477=)
|
rs515726068
|
0.00009
|
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
|
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser)
|
rs767717128
|
0.00009
|
|
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)
|
rs79746977
|
0.00009
|
|
NM_024757.5(EHMT1):c.150G>A (p.Ala50=)
|
rs371344592
|
0.00009
|
|
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys)
|
rs373269573
|
0.00009
|
|
NM_024809.5(TCTN2):c.1723G>A (p.Ala575Thr)
|
rs202157566
|
0.00009
|
|
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val)
|
rs373172891
|
0.00009
|
|
NM_024989.4(PGAP1):c.692G>A (p.Arg231Gln)
|
rs368553507
|
0.00009
|
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
|
NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn)
|
rs201072457
|
0.00009
|
|
NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu)
|
rs200061071
|
0.00009
|
|
NM_030665.4(RAI1):c.5366G>A (p.Arg1789Gln)
|
rs368587743
|
0.00009
|
|
NM_030962.4(SBF2):c.4076C>T (p.Ala1359Val)
|
rs368839717
|
0.00009
|
|
NM_032444.4(SLX4):c.1223G>A (p.Arg408Gln)
|
rs377135500
|
0.00009
|
|
NM_032444.4(SLX4):c.2006G>A (p.Arg669His)
|
rs200807331
|
0.00009
|
|
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)
|
rs753645971
|
0.00009
|
|
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly)
|
rs141800945
|
0.00009
|
|
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)
|
rs139928148
|
0.00009
|
|
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)
|
rs2291703
|
0.00009
|
|
NM_152564.5(VPS13B):c.11885C>G (p.Pro3962Arg)
|
rs531619892
|
0.00009
|
|
NM_152703.5(SAMD9L):c.1356C>A (p.Ile452=)
|
rs150450981
|
0.00009
|
|
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=)
|
rs140447217
|
0.00009
|
|
NM_153252.5(BRWD3):c.4398-7C>T
|
rs374506776
|
0.00009
|
|
NM_173630.4(RTTN):c.4033-21G>T
|
rs929083334
|
0.00009
|
|
NM_175914.5(HNF4A):c.427-5C>T
|
rs374703326
|
0.00009
|
|
NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp)
|
rs376877146
|
0.00009
|
|
NM_181332.3(NLGN4X):c.955C>A (p.Arg319=)
|
rs199769855
|
0.00009
|
|
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)
|
rs144963785
|
0.00009
|
|
NM_182961.4(SYNE1):c.26272C>G (p.Leu8758Val)
|
rs139740651
|
0.00009
|
|
NM_198253.3(TERT):c.1974G>A (p.Val658=)
|
rs778496417
|
0.00009
|
|
NM_198253.3(TERT):c.2019C>T (p.Pro673=)
|
rs762941707
|
0.00009
|
|
NM_198253.3(TERT):c.2118G>A (p.Leu706=)
|
rs377030225
|
0.00009
|
|
NM_198253.3(TERT):c.3159G>A (p.Gly1053=)
|
rs200002330
|
0.00009
|
|
NM_198576.4(AGRN):c.2993C>T (p.Pro998Leu)
|
rs200807722
|
0.00009
|
|
NM_199242.3(UNC13D):c.1934G>A (p.Arg645Gln)
|
rs371162326
|
0.00009
|
|
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)
|
rs143739249
|
0.00009
|
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
|
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=)
|
rs118093942
|
0.00008
|
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00008
|
|
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala)
|
rs80358899
|
0.00008
|
|
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)
|
rs367880372
|
0.00008
|
|
NM_000135.4(FANCA):c.2856G>C (p.Gln952His)
|
rs200093209
|
0.00008
|
|
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
|
rs199601218
|
0.00008
|
|
NM_000168.6(GLI3):c.1182A>G (p.Pro394=)
|
rs748606221
|
0.00008
|
|
NM_000179.3(MSH6):c.3264C>T (p.Phe1088=)
|
rs35621414
|
0.00008
|
|
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=)
|
rs33932258
|
0.00008
|
|
NM_000208.4(INSR):c.2598C>T (p.Val866=)
|
rs797045625
|
0.00008
|
|
NM_000212.3(ITGB3):c.1677G>A (p.Gly559=)
|
rs141976972
|
0.00008
|
|
NM_000233.4(LHCGR):c.680+9A>G
|
rs766301939
|
0.00008
|
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
|
NM_000275.3(OCA2):c.1503+5G>A
|
rs368124046
|
0.00008
|
|
NM_000352.6(ABCC8):c.1486C>T (p.Leu496=)
|
rs150956385
|
0.00008
|
|
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)
|
rs201351976
|
0.00008
|
|
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)
|
rs562715858
|
0.00008
|
|
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)
|
rs781480098
|
0.00008
|
|
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)
|
rs61754362
|
0.00008
|
|
NM_000377.3(WAS):c.285G>A (p.Leu95=)
|
rs781799471
|
0.00008
|
|
NM_000426.4(LAMA2):c.1369G>A (p.Ala457Thr)
|
rs542498391
|
0.00008
|
|
NM_000458.4(HNF1B):c.660T>C (p.Asp220=)
|
rs779375959
|
0.00008
|
|
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)
|
rs145678415
|
0.00008
|
|
NM_000525.4(KCNJ11):c.526C>T (p.Arg176Cys)
|
rs201264306
|
0.00008
|
|
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser)
|
rs72554079
|
0.00008
|
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
|
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=)
|
rs368684717
|
0.00008
|
|
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=)
|
rs370300688
|
0.00008
|
|
NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly)
|
rs199526748
|
0.00008
|
|
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
|
rs121434406
|
0.00008
|
|
NM_001014.5(RPS10):c.261G>A (p.Pro87=)
|
rs781484971
|
0.00008
|
|
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile)
|
rs771007866
|
0.00008
|
|
NM_001018115.3(FANCD2):c.4281+37G>A
|
rs376442380
|
0.00008
|
|
NM_001018115.3(FANCD2):c.672C>T (p.His224=)
|
rs371928644
|
0.00008
|
|
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=)
|
rs543538780
|
0.00008
|
|
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=)
|
rs571408286
|
0.00008
|
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
|
NM_001048174.2(MUTYH):c.929A>G (p.Gln310Arg)
|
rs199742231
|
0.00008
|
|
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)
|
rs374925782
|
0.00008
|
|
NM_001110556.2(FLNA):c.2571G>A (p.Thr857=)
|
rs1208353421
|
0.00008
|
|
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)
|
rs587781033
|
0.00008
|
|
NM_001111077.2(EZR):c.1585C>T (p.Arg529Trp)
|
rs369354383
|
0.00008
|
|
NM_001123385.2(BCOR):c.739C>T (p.Leu247=)
|
rs139023119
|
0.00008
|
|
NM_001123385.2(BCOR):c.850G>A (p.Asp284Asn)
|
rs977644059
|
0.00008
|
|
NM_001126049.2(KLLN):c.57T>C (p.Gly19=)
|
rs763692760
|
0.00008
|
|
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr)
|
rs377253398
|
0.00008
|
|
NM_001164508.2(NEB):c.5724C>T (p.Ser1908=)
|
rs370965998
|
0.00008
|
|
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)
|
rs587780445
|
0.00008
|
|
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)
|
rs201733233
|
0.00008
|
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
|
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg)
|
rs199888009
|
0.00008
|
|
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=)
|
rs782341083
|
0.00008
|
|
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr)
|
rs147299402
|
0.00008
|
|
NM_001291867.2(NHS):c.3786G>A (p.Thr1262=)
|
rs150235442
|
0.00008
|
|
NM_001291867.2(NHS):c.4082C>T (p.Ser1361Leu)
|
rs766379688
|
0.00008
|
|
NM_001318510.2(ACSL4):c.245A>T (p.Tyr82Phe)
|
rs372250472
|
0.00008
|
|
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln)
|
rs368488511
|
0.00008
|
|
NM_001374828.1(ARID1B):c.1628C>T (p.Ala543Val)
|
rs797045270
|
0.00008
|
|
NM_001374828.1(ARID1B):c.1841T>C (p.Met614Thr)
|
rs141260832
|
0.00008
|
|
NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=)
|
rs17541692
|
0.00008
|
|
NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met)
|
rs587783354
|
0.00008
|
|
NM_001429.4(EP300):c.6729C>T (p.Gly2243=)
|
rs765194008
|
0.00008
|
|
NM_001626.6(AKT2):c.744A>G (p.Thr248=)
|
rs749826058
|
0.00008
|
|
NM_001754.5(RUNX1):c.492C>T (p.Val164=)
|
rs200907577
|
0.00008
|
|
NM_001843.4(CNTN1):c.1749C>T (p.Cys583=)
|
rs768838928
|
0.00008
|
|
NM_001849.4(COL6A2):c.735+9C>T
|
rs377121540
|
0.00008
|
|
NM_001905.4(CTPS1):c.472C>T (p.Pro158Ser)
|
rs140029453
|
0.00008
|
|
NM_001909.5(CTSD):c.1137C>T (p.Ser379=)
|
rs141981301
|
0.00008
|
|
NM_001987.5(ETV6):c.853G>A (p.Val285Met)
|
rs376242225
|
0.00008
|
|
NM_002025.4(AFF2):c.47+16T>C
|
rs782673472
|
0.00008
|
|
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)
|
rs137853074
|
0.00008
|
|
NM_002241.5(KCNJ10):c.114C>T (p.Asn38=)
|
rs151068619
|
0.00008
|
|
NM_002397.5(MEF2C):c.363C>T (p.Asn121=)
|
rs186648089
|
0.00008
|
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
|
NM_002547.3(OPHN1):c.1830C>T (p.Ser610=)
|
rs368803937
|
0.00008
|
|
NM_002691.4(POLD1):c.1686+10C>T
|
rs372652150
|
0.00008
|
|
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)
|
rs375305567
|
0.00008
|
|
NM_002894.3(RBBP8):c.592G>A (p.Val198Met)
|
rs781525750
|
0.00008
|
|
NM_003070.5(SMARCA2):c.915C>G (p.Pro305=)
|
rs981565985
|
0.00008
|
|
NM_003467.3(CXCR4):c.1003G>A (p.Gly335Ser)
|
rs147214773
|
0.00008
|
|
NM_003597.5(KLF11):c.1161C>T (p.Asp387=)
|
rs117449189
|
0.00008
|
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
|
NM_003619.4(PRSS12):c.1357G>A (p.Val453Ile)
|
rs778632400
|
0.00008
|
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
|
NM_004278.4(PIGL):c.4G>A (p.Glu2Lys)
|
rs150000731
|
0.00008
|
|
NM_004278.4(PIGL):c.627C>T (p.Phe209=)
|
rs146164310
|
0.00008
|
|
NM_004360.5(CDH1):c.1020G>A (p.Thr340=)
|
rs61747632
|
0.00008
|
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
|
NM_004360.5(CDH1):c.387+5G>A
|
rs113055163
|
0.00008
|
|
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)
|
rs587783466
|
0.00008
|
|
NM_005045.4(RELN):c.8667+9_8667+13del
|
rs755797350
|
0.00008
|
|
NM_005045.4(RELN):c.9708C>T (p.Ser3236=)
|
rs200370282
|
0.00008
|
|
NM_005188.4(CBL):c.1356C>T (p.Ser452=)
|
rs150443504
|
0.00008
|
|
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe)
|
rs201631570
|
0.00008
|
|
NM_005228.5(EGFR):c.493C>T (p.Arg165Trp)
|
rs587778252
|
0.00008
|
|
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=)
|
rs781840891
|
0.00008
|
|
NM_005912.3(MC4R):c.405A>C (p.Ala135=)
|
rs140773238
|
0.00008
|
|
NM_006015.6(ARID1A):c.3978G>A (p.Pro1326=)
|
rs370696498
|
0.00008
|
|
NM_006015.6(ARID1A):c.6252C>G (p.Val2084=)
|
rs145004598
|
0.00008
|
|
NM_006031.6(PCNT):c.5994+4G>A
|
rs781737632
|
0.00008
|
|
NM_006031.6(PCNT):c.6276C>T (p.Ala2092=)
|
rs755726044
|
0.00008
|
|
NM_006031.6(PCNT):c.6348C>T (p.Asp2116=)
|
rs144430478
|
0.00008
|
|
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=)
|
rs761995771
|
0.00008
|
|
NM_006031.6(PCNT):c.721-5C>T
|
rs144683591
|
0.00008
|
|
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=)
|
rs572222540
|
0.00008
|
|
NM_006059.4(LAMC3):c.2949C>T (p.Cys983=)
|
rs373660982
|
0.00008
|
|
NM_006060.6(IKZF1):c.450C>T (p.Cys150=)
|
rs772322516
|
0.00008
|
|
NM_006231.4(POLE):c.2481C>T (p.Tyr827=)
|
rs149513974
|
0.00008
|
|
NM_006420.3(ARFGEF2):c.2276+6C>T
|
rs368941506
|
0.00008
|
|
NM_006420.3(ARFGEF2):c.846T>A (p.Asp282Glu)
|
rs368886420
|
0.00008
|
|
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)
|
rs75852730
|
0.00008
|
|
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=)
|
rs377674001
|
0.00008
|
|
NM_006910.5(RBBP6):c.2665C>A (p.His889Asn)
|
rs367857102
|
0.00008
|
|
NM_006947.4(SRP72):c.191C>T (p.Ala64Val)
|
rs141475605
|
0.00008
|
|
NM_006950.3(SYN1):c.987G>A (p.Thr329=)
|
rs371126022
|
0.00008
|
|
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)
|
rs200292614
|
0.00008
|
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
|
NM_007259.5(VPS45):c.785T>C (p.Val262Ala)
|
rs148174305
|
0.00008
|
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00008
|
|
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)
|
rs28897696
|
0.00008
|
|
NM_007347.5(AP4E1):c.1424C>T (p.Ala475Val)
|
rs200678853
|
0.00008
|
|
NM_012233.3(RAB3GAP1):c.724T>C (p.Tyr242His)
|
rs577915245
|
0.00008
|
|
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val)
|
rs151225064
|
0.00008
|
|
NM_013275.6(ANKRD11):c.2505C>T (p.Asp835=)
|
rs544199816
|
0.00008
|
|
NM_014008.5(CCDC22):c.1078G>A (p.Val360Ile)
|
rs145766807
|
0.00008
|
|
NM_014008.5(CCDC22):c.1164C>T (p.Arg388=)
|
rs184896758
|
0.00008
|
|
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile)
|
rs367860281
|
0.00008
|
|
NM_014141.6(CNTNAP2):c.939+8T>A
|
rs199994339
|
0.00008
|
|
NM_015275.3(WASHC4):c.3185A>C (p.Asp1062Ala)
|
rs369824204
|
0.00008
|
|
NM_015922.3(NSDHL):c.1020C>T (p.Cys340=)
|
rs376794048
|
0.00008
|
|
NM_016219.5(MAN1B1):c.1738C>G (p.Pro580Ala)
|
rs200860565
|
0.00008
|
|
NM_016222.4(DDX41):c.88G>T (p.Asp30Tyr)
|
rs559527781
|
0.00008
|
|
NM_016373.4(WWOX):c.635C>T (p.Ala212Val)
|
rs202006159
|
0.00008
|
|
NM_017654.4(SAMD9):c.4586G>A (p.Arg1529His)
|
rs149966534
|
0.00008
|
|
NM_017755.6(NSUN2):c.1046C>T (p.Ser349Phe)
|
rs200175285
|
0.00008
|
|
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=)
|
rs372889781
|
0.00008
|
|
NM_018026.4(PACS1):c.2412C>T (p.Ser804=)
|
rs199759003
|
0.00008
|
|
NM_018062.4(FANCL):c.238C>G (p.Leu80Val)
|
rs563513081
|
0.00008
|
|
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)
|
rs563943670
|
0.00008
|
|
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser)
|
rs145645602
|
0.00008
|
|
NM_018249.6(CDK5RAP2):c.574C>T (p.Arg192Trp)
|
rs369568564
|
0.00008
|
|
NM_020207.7(ERCC6L2):c.1826A>G (p.Asn609Ser)
|
rs200972525
|
0.00008
|
|
NM_020461.4(TUBGCP6):c.245T>G (p.Leu82Arg)
|
rs200360214
|
0.00008
|
|
NM_020921.4(NIN):c.3749T>C (p.Leu1250Pro)
|
rs896607535
|
0.00008
|
|
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg)
|
rs200083899
|
0.00008
|
|
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys)
|
rs377684553
|
0.00008
|
|
NM_022455.5(NSD1):c.6259-8A>T
|
rs370529039
|
0.00008
|
|
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
|
rs398124386
|
0.00008
|
|
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr)
|
rs372625322
|
0.00008
|
|
NM_024598.4(USB1):c.78G>C (p.Pro26=)
|
rs375706004
|
0.00008
|
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
|
NM_024685.4(BBS10):c.1629C>T (p.Asn543=)
|
rs145124702
|
0.00008
|
|
NM_025009.5(CEP135):c.143G>A (p.Arg48Gln)
|
rs199867478
|
0.00008
|
|
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln)
|
rs778830884
|
0.00008
|
|
NM_030665.4(RAI1):c.486C>T (p.Ala162=)
|
rs748628863
|
0.00008
|
|
NM_031407.7(HUWE1):c.3114C>T (p.Ile1038=)
|
rs781848587
|
0.00008
|
|
NM_031407.7(HUWE1):c.9486C>T (p.Asn3162=)
|
rs150660551
|
0.00008
|
|
NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala)
|
rs753618520
|
0.00008
|
|
NM_032444.4(SLX4):c.4665C>T (p.Pro1555=)
|
rs749018784
|
0.00008
|
|
NM_032531.4(KIRREL3):c.88G>A (p.Val30Met)
|
rs182260035
|
0.00008
|
|
NM_032638.5(GATA2):c.114G>A (p.Gln38=)
|
rs775573177
|
0.00008
|
|
NM_032638.5(GATA2):c.375A>C (p.Pro125=)
|
rs763281230
|
0.00008
|
|
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser)
|
rs775715153
|
0.00008
|
|
NM_133473.4(ZNF431):c.1447C>A (p.Pro483Thr)
|
rs749228437
|
0.00008
|
|
NM_139058.3(ARX):c.303A>G (p.Ala101=)
|
rs797045295
|
0.00008
|
|
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg)
|
rs371961155
|
0.00008
|
|
NM_152564.5(VPS13B):c.560G>A (p.Arg187His)
|
rs150941426
|
0.00008
|
|
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro)
|
rs199559979
|
0.00008
|
|
NM_152783.5(D2HGDH):c.1242C>T (p.Ile414=)
|
rs758849873
|
0.00008
|
|
NM_152783.5(D2HGDH):c.1413C>T (p.Ser471=)
|
rs755871797
|
0.00008
|
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
|
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)
|
rs587780369
|
0.00008
|
|
NM_181332.3(NLGN4X):c.1887C>T (p.Pro629=)
|
rs778014568
|
0.00008
|
|
NM_198253.3(TERT):c.1392C>T (p.Phe464=)
|
rs186596886
|
0.00008
|
|
NM_198253.3(TERT):c.2127C>G (p.Val709=)
|
rs765264494
|
0.00008
|
|
NM_198253.3(TERT):c.2139G>A (p.Val713=)
|
rs775722062
|
0.00008
|
|
NM_199242.3(UNC13D):c.2243C>T (p.Ala748Val)
|
rs375724532
|
0.00008
|
|
NM_201384.3(PLEC):c.1650C>T (p.Ser550=)
|
rs541271992
|
0.00008
|
|
NM_201525.4(ADGRG1):c.757T>G (p.Ser253Ala)
|
rs768988909
|
0.00008
|
|
NM_206937.2(LIG4):c.1473C>G (p.Pro491=)
|
rs189319839
|
0.00008
|
|
NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala)
|
rs137899041
|
0.00008
|
|
NM_207346.3(TSEN54):c.1314-20G>A
|
rs377740590
|
0.00008
|
|
NM_000032.5(ALAS2):c.220C>T (p.Leu74=)
|
rs200307584
|
0.00007
|
|
NM_000039.3(APOA1):c.80C>A (p.Pro27His)
|
rs121912720
|
0.00007
|
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
|
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)
|
rs138542210
|
0.00007
|
|
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)
|
rs367953471
|
0.00007
|
|
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)
|
rs80358604
|
0.00007
|
|
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val)
|
rs56337919
|
0.00007
|
|
NM_000123.4(ERCC5):c.2842T>C (p.Phe948Leu)
|
rs200001652
|
0.00007
|
|
NM_000135.4(FANCA):c.2222+7G>A
|
rs374312736
|
0.00007
|
|
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)
|
rs369765552
|
0.00007
|
|
NM_000136.3(FANCC):c.531C>T (p.Pro177=)
|
rs150070473
|
0.00007
|
|
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)
|
rs13306411
|
0.00007
|
|
NM_000204.5(CFI):c.616T>A (p.Tyr206Asn)
|
rs371623439
|
0.00007
|
|
NM_000207.3(INS):c.188-233C>T
|
rs970395863
|
0.00007
|
|
NM_000208.4(INSR):c.123G>T (p.Arg41=)
|
rs372938158
|
0.00007
|
|
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)
|
rs369102740
|
0.00007
|
|
NM_000249.4(MLH1):c.*4T>C
|
rs750794400
|
0.00007
|
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
|
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu)
|
rs377345366
|
0.00007
|
|
NM_000252.3(MTM1):c.422C>T (p.Ala141Val)
|
rs140642341
|
0.00007
|
|
NM_000314.6(PTEN):c.-932G>A
|
rs889785939
|
0.00007
|
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
|
NM_000430.4(PAFAH1B1):c.1002C>T (p.Leu334=)
|
rs199648962
|
0.00007
|
|
NM_000455.5(STK11):c.-2G>T
|
rs774072752
|
0.00007
|
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
|
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)
|
rs149232501
|
0.00007
|
|
NM_000525.4(KCNJ11):c.726C>T (p.Asn242=)
|
rs72554078
|
0.00007
|
|
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)
|
rs587781909
|
0.00007
|
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
|
NM_000545.8(HNF1A):c.341G>A (p.Arg114His)
|
rs139016696
|
0.00007
|
|
NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=)
|
rs200805356
|
0.00007
|
|
NM_001010898.4(SLC6A17):c.824G>A (p.Arg275Gln)
|
rs147200498
|
0.00007
|
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
|
NM_001018115.3(FANCD2):c.1200C>A (p.Asp400Glu)
|
rs755295382
|
0.00007
|
|
NM_001018115.3(FANCD2):c.1338A>C (p.Leu446=)
|
rs752268889
|
0.00007
|
|
NM_001032221.6(STXBP1):c.1257G>A (p.Thr419=)
|
rs377751165
|
0.00007
|
|
NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val)
|
rs3766317
|
0.00007
|
|
NM_001048174.2(MUTYH):c.492+8G>C
|
rs190500741
|
0.00007
|
|
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)
|
rs118203982
|
0.00007
|
|
NM_001080517.3(SETD5):c.1525-5T>C
|
rs532565367
|
0.00007
|
|
NM_001083961.2(WDR62):c.3065C>T (p.Ser1022Leu)
|
rs143004535
|
0.00007
|
|
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=)
|
rs782615607
|
0.00007
|
|
NM_001110556.2(FLNA):c.5190C>T (p.His1730=)
|
rs781793192
|
0.00007
|
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
|
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)
|
rs143876280
|
0.00007
|
|
NM_001114753.3(ENG):c.1712G>A (p.Arg571His)
|
rs138799379
|
0.00007
|
|
NM_001130438.3(SPTAN1):c.237+4C>T
|
rs371350283
|
0.00007
|
|
NM_001134407.3(GRIN2A):c.2636A>G (p.Lys879Arg)
|
rs183029507
|
0.00007
|
|
NM_001160372.4(TRAPPC9):c.3220A>G (p.Asn1074Asp)
|
rs762135474
|
0.00007
|
|
NM_001202.6(BMP4):c.502G>C (p.Gly168Arg)
|
rs373924774
|
0.00007
|
|
NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr)
|
rs369842871
|
0.00007
|
|
NM_001244008.2(KIF1A):c.4665+4G>C
|
rs772449700
|
0.00007
|
|
NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp)
|
rs752781534
|
0.00007
|
|
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met)
|
rs144398602
|
0.00007
|
|
NM_001276270.2(MBD4):c.-5G>C
|
rs373196573
|
0.00007
|
|
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=)
|
rs200561489
|
0.00007
|
|
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu)
|
rs201474883
|
0.00007
|
|
NM_001283009.2(RTEL1):c.3630C>T (p.His1210=)
|
rs564198378
|
0.00007
|
|
NM_001330078.2(NRXN1):c.847A>G (p.Ile283Val)
|
rs748218169
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=)
|
rs782313473
|
0.00007
|
|
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile)
|
rs78962087
|
0.00007
|
|
NM_001367721.1(CASK):c.1860A>G (p.Gln620=)
|
rs773445513
|
0.00007
|
|
NM_001374828.1(ARID1B):c.889C>T (p.Pro297Ser)
|
rs1301993972
|
0.00007
|
|
NM_001379110.1(SLC9A6):c.1287A>G (p.Gln429=)
|
rs142161862
|
0.00007
|
|
NM_001379500.1(COL18A1):c.928+2T>C
|
rs907713687
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
|
NM_001987.5(ETV6):c.33+7A>G
|
rs1168906954
|
0.00007
|
|
NM_002382.5(MAX):c.25G>T (p.Val9Leu)
|
rs201743423
|
0.00007
|
|
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)
|
rs367760321
|
0.00007
|
|
NM_002528.7(NTHL1):c.85G>A (p.Gly29Arg)
|
rs1161055704
|
0.00007
|
|
NM_002578.5(PAK3):c.1323G>A (p.Pro441=)
|
rs61733749
|
0.00007
|
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
|
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)
|
rs373804633
|
0.00007
|
|
NM_003051.4(SLC16A1):c.324C>T (p.Thr108=)
|
rs147057122
|
0.00007
|
|
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=)
|
rs140464170
|
0.00007
|
|
NM_003283.6(TNNT1):c.134C>T (p.Pro45Leu)
|
rs201722303
|
0.00007
|
|
NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu)
|
rs113809568
|
0.00007
|
|
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys)
|
rs201283589
|
0.00007
|
|
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=)
|
rs376227770
|
0.00007
|
|
NM_003482.4(KMT2D):c.553C>T (p.Arg185Cys)
|
rs201796530
|
0.00007
|
|
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala)
|
rs35111108
|
0.00007
|
|
NM_003611.3(OFD1):c.2260+8A>G
|
rs768452237
|
0.00007
|
|
NM_003619.4(PRSS12):c.936C>T (p.Ala312=)
|
rs12505679
|
0.00007
|
|
NM_003805.5(CRADD):c.497G>A (p.Arg166His)
|
rs746685035
|
0.00007
|
|
NM_004493.3(HSD17B10):c.223C>G (p.Leu75Val)
|
rs374438347
|
0.00007
|
|
NM_005026.5(PIK3CD):c.1629G>A (p.Pro543=)
|
rs190710687
|
0.00007
|
|
NM_005188.4(CBL):c.1299G>A (p.Pro433=)
|
rs199633558
|
0.00007
|
|
NM_005188.4(CBL):c.2126G>A (p.Arg709Gln)
|
rs770667508
|
0.00007
|
|
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)
|
rs3136151
|
0.00007
|
|
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His)
|
rs760922582
|
0.00007
|
|
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)
|
rs150077735
|
0.00007
|
|
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)
|
rs112525060
|
0.00007
|
|
NM_005559.4(LAMA1):c.7897G>A (p.Gly2633Arg)
|
rs769644598
|
0.00007
|
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
|
NM_006005.3(WFS1):c.291C>T (p.Ala97=)
|
rs148404077
|
0.00007
|
|
NM_006005.3(WFS1):c.342C>T (p.Ala114=)
|
rs201151892
|
0.00007
|
|
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly)
|
rs752026201
|
0.00007
|
|
NM_006015.6(ARID1A):c.3816G>A (p.Ala1272=)
|
rs763151089
|
0.00007
|
|
NM_006031.6(PCNT):c.1463A>G (p.His488Arg)
|
rs201966670
|
0.00007
|
|
NM_006031.6(PCNT):c.3389G>A (p.Arg1130Gln)
|
rs140003788
|
0.00007
|
|
NM_006031.6(PCNT):c.8115C>T (p.Cys2705=)
|
rs756904669
|
0.00007
|
|
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp)
|
rs587784322
|
0.00007
|
|
NM_006031.6(PCNT):c.9163C>A (p.Leu3055Ile)
|
rs754586558
|
0.00007
|
|
NM_006031.6(PCNT):c.9618A>G (p.Ile3206Met)
|
rs372895276
|
0.00007
|
|
NM_006206.6(PDGFRA):c.1296G>A (p.Thr432=)
|
rs374217334
|
0.00007
|
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
|
NM_006231.4(POLE):c.3311C>T (p.Thr1104Met)
|
rs531705054
|
0.00007
|
|
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu)
|
rs980791573
|
0.00007
|
|
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=)
|
rs375587730
|
0.00007
|
|
NM_006876.3(B4GAT1):c.924G>A (p.Pro308=)
|
rs200574075
|
0.00007
|
|
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln)
|
rs775109362
|
0.00007
|
|
NM_007259.5(VPS45):c.1267G>C (p.Val423Leu)
|
rs201002467
|
0.00007
|
|
NM_007294.4(BRCA1):c.*1086A>C
|
rs940642132
|
0.00007
|
|
NM_012156.2(EPB41L1):c.343-6C>T
|
rs369397623
|
0.00007
|
|
NM_012210.4(TRIM32):c.238C>T (p.Leu80=)
|
rs760820148
|
0.00007
|
|
NM_012309.5(SHANK2):c.2268G>A (p.Leu756=)
|
rs372417511
|
0.00007
|
|
NM_013296.5(GPSM2):c.57-10A>G
|
rs184863735
|
0.00007
|
|
NM_013339.4(ALG6):c.1465T>G (p.Phe489Val)
|
rs145152115
|
0.00007
|
|
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met)
|
rs771028883
|
0.00007
|
|
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser)
|
rs149360738
|
0.00007
|
|
NM_014795.4(ZEB2):c.1638C>T (p.Asp546=)
|
rs149035844
|
0.00007
|
|
NM_014915.3(ANKRD26):c.301G>A (p.Asp101Asn)
|
rs199753643
|
0.00007
|
|
NM_014915.3(ANKRD26):c.3286C>T (p.Arg1096Trp)
|
rs367849518
|
0.00007
|
|
NM_015214.3(DDHD2):c.21A>G (p.Gln7=)
|
rs182341575
|
0.00007
|
|
NM_016180.5(SLC45A2):c.1244T>C (p.Ile415Thr)
|
rs112249076
|
0.00007
|
|
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)
|
rs762890562
|
0.00007
|
|
NM_017654.4(SAMD9):c.731A>G (p.His244Arg)
|
rs377645651
|
0.00007
|
|
NM_017668.3(NDE1):c.711C>T (p.Asp237=)
|
rs148344039
|
0.00007
|
|
NM_017721.5(CC2D1A):c.1545C>T (p.Asn515=)
|
rs370475551
|
0.00007
|
|
NM_017755.6(NSUN2):c.1185G>A (p.Pro395=)
|
rs536258085
|
0.00007
|
|
NM_017757.3(ZNF407):c.5718G>A (p.Thr1906=)
|
rs754942254
|
0.00007
|
|
NM_017777.4(MKS1):c.1134A>G (p.Glu378=)
|
rs77365082
|
0.00007
|
|
NM_017777.4(MKS1):c.1298C>T (p.Thr433Met)
|
rs755841031
|
0.00007
|
|
NM_018026.4(PACS1):c.2454C>T (p.Asp818=)
|
rs142615271
|
0.00007
|
|
NM_018249.6(CDK5RAP2):c.3769C>T (p.Arg1257Trp)
|
rs185208659
|
0.00007
|
|
NM_018294.6(CWF19L1):c.964+1G>A
|
rs587780326
|
0.00007
|
|
NM_018993.4(RIN2):c.2436C>T (p.Tyr812=)
|
rs540923982
|
0.00007
|
|
NM_020207.7(ERCC6L2):c.599T>C (p.Phe200Ser)
|
rs61748989
|
0.00007
|
|
NM_020987.5(ANK3):c.10020C>T (p.Asp3340=)
|
rs750349884
|
0.00007
|
|
NM_021008.4(DEAF1):c.1320G>A (p.Ala440=)
|
rs187523180
|
0.00007
|
|
NM_021926.4(ALX4):c.972C>T (p.Pro324=)
|
rs542338601
|
0.00007
|
|
NM_021956.5(GRIK2):c.1360T>C (p.Tyr454His)
|
rs186727716
|
0.00007
|
|
NM_022168.4(IFIH1):c.2919G>C (p.Val973=)
|
rs376116707
|
0.00007
|
|
NM_022455.5(NSD1):c.142A>G (p.Met48Val)
|
rs200735877
|
0.00007
|
|
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser)
|
rs200856103
|
0.00007
|
|
NM_024596.5(MCPH1):c.2214C>T (p.Pro738=)
|
rs35344839
|
0.00007
|
|
NM_024757.5(EHMT1):c.1636G>A (p.Val546Met)
|
rs755711930
|
0.00007
|
|
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=)
|
rs780742937
|
0.00007
|
|
NM_025000.4(DCAF17):c.1266+6G>A
|
rs557741620
|
0.00007
|
|
NM_025009.5(CEP135):c.203T>C (p.Leu68Ser)
|
rs147697562
|
0.00007
|
|
NM_030665.4(RAI1):c.1904A>T (p.Asp635Val)
|
rs200517965
|
0.00007
|
|
NM_030665.4(RAI1):c.3158C>T (p.Pro1053Leu)
|
rs748386061
|
0.00007
|
|
NM_030928.4(CDT1):c.268G>A (p.Ala90Thr)
|
rs375032017
|
0.00007
|
|
NM_030928.4(CDT1):c.686+9C>T
|
rs189449467
|
0.00007
|
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
|
NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys)
|
rs371185409
|
0.00007
|
|
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu)
|
rs534528576
|
0.00007
|
|
NM_032444.4(SLX4):c.2005C>T (p.Arg669Cys)
|
rs375524355
|
0.00007
|
|
NM_032444.4(SLX4):c.2034T>G (p.Val678=)
|
rs200278096
|
0.00007
|
|
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu)
|
rs372912472
|
0.00007
|
|
NM_032638.5(GATA2):c.888C>T (p.Val296=)
|
rs574218913
|
0.00007
|
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
|
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)
|
rs202161423
|
0.00007
|
|
NM_133433.4(NIPBL):c.2105C>T (p.Thr702Ile)
|
rs372162252
|
0.00007
|
|
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser)
|
rs190086412
|
0.00007
|
|
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu)
|
rs370593530
|
0.00007
|
|
NM_138386.3(NAF1):c.791G>A (p.Ser264Asn)
|
rs201716724
|
0.00007
|
|
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln)
|
rs147907236
|
0.00007
|
|
NM_152703.5(SAMD9L):c.4368T>A (p.Asn1456Lys)
|
rs144026608
|
0.00007
|
|
NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met)
|
rs762019434
|
0.00007
|
|
NM_173495.3(PTCHD1):c.1080T>G (p.Val360=)
|
rs375720878
|
0.00007
|
|
NM_173630.4(RTTN):c.6535G>C (p.Ala2179Pro)
|
rs587780444
|
0.00007
|
|
NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu)
|
rs201749293
|
0.00007
|
|
NM_198252.3(GSN):c.1485C>T (p.Ile495=)
|
rs374982895
|
0.00007
|
|
NM_198253.3(TERT):c.3296-5C>T
|
rs371015305
|
0.00007
|
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
|
NM_198576.4(AGRN):c.2559C>T (p.Gly853=)
|
rs369198471
|
0.00007
|
|
NM_199242.3(UNC13D):c.273G>A (p.Val91=)
|
rs149494974
|
0.00007
|
|
NM_201525.4(ADGRG1):c.702C>T (p.Asn234=)
|
rs376931459
|
0.00007
|
|
NM_203447.4(DOCK8):c.2482G>A (p.Ala828Thr)
|
rs138519226
|
0.00007
|
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
|
NM_000051.3(ATM):c.-218T>A
|
rs886047609
|
0.00006
|
|
NM_000051.4(ATM):c.-94G>A
|
rs766115348
|
0.00006
|
|
NM_000051.4(ATM):c.198A>G (p.Lys66=)
|
rs540920248
|
0.00006
|
|
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)
|
rs769106895
|
0.00006
|
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
|
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)
|
rs529296539
|
0.00006
|
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
|
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)
|
rs184657475
|
0.00006
|
|
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr)
|
rs371023654
|
0.00006
|
|
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=)
|
rs55919657
|
0.00006
|
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
|
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=)
|
rs202022822
|
0.00006
|
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
rs79456940
|
0.00006
|
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
0.00006
|
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
|
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)
|
rs104894138
|
0.00006
|
|
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile)
|
rs774948790
|
0.00006
|
|
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)
|
rs762647468
|
0.00006
|
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
|
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln)
|
rs370507983
|
0.00006
|
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
|
NM_000136.3(FANCC):c.974C>T (p.Ala325Val)
|
rs367618818
|
0.00006
|
|
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu)
|
rs144995231
|
0.00006
|
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
|
NM_000179.3(MSH6):c.2724A>G (p.Glu908=)
|
rs35389622
|
0.00006
|
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
|
NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys)
|
rs137852489
|
0.00006
|
|
NM_000212.3(ITGB3):c.1650C>T (p.Asp550=)
|
rs376429975
|
0.00006
|
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
|
NM_000249.4(MLH1):c.207+12C>T
|
rs121909450
|
0.00006
|
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
|
NM_000251.3(MSH2):c.-107C>A
|
rs587782649
|
0.00006
|
|
NM_000251.3(MSH2):c.1077-7A>G
|
rs370807334
|
0.00006
|
|
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)
|
rs56076152
|
0.00006
|
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
|
NM_000257.4(MYH7):c.5559+8G>A
|
rs377473156
|
0.00006
|
|
NM_000303.3(PMM2):c.436G>A (p.Glu146Lys)
|
rs142420230
|
0.00006
|
|
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)
|
rs137852696
|
0.00006
|
|
NM_000314.8(PTEN):c.-111G>T
|
rs761148721
|
0.00006
|
|
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp)
|
rs142620721
|
0.00006
|
|
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)
|
rs531684936
|
0.00006
|
|
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
|
NM_000377.3(WAS):c.1299G>A (p.Ala433=)
|
rs372649110
|
0.00006
|
|
NM_000426.4(LAMA2):c.6274+5G>A
|
rs367765202
|
0.00006
|
|
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val)
|
rs140178576
|
0.00006
|
|
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys)
|
rs199572129
|
0.00006
|
|
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)
|
rs36076514
|
0.00006
|
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
|
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
|
rs74315475
|
0.00006
|
|
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)
|
rs61752457
|
0.00006
|
|
NM_000489.6(ATRX):c.3513A>T (p.Arg1171Ser)
|
rs868995055
|
0.00006
|
|
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)
|
rs143235330
|
0.00006
|
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
|
NM_000540.3(RYR1):c.11556C>T (p.Ala3852=)
|
rs142947855
|
0.00006
|
|
NM_000540.3(RYR1):c.1172G>A (p.Arg391His)
|
rs769387053
|
0.00006
|
|
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)
|
rs748743312
|
0.00006
|
|
NM_000540.3(RYR1):c.8598C>T (p.Thr2866=)
|
rs538250432
|
0.00006
|
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
|
NM_000546.6(TP53):c.618G>A (p.Leu206=)
|
rs142813240
|
0.00006
|
|
NM_000550.3(TYRP1):c.1354A>G (p.Met452Val)
|
rs761776915
|
0.00006
|
|
NM_000996.4(RPL35A):c.21C>T (p.Ser7=)
|
rs145660527
|
0.00006
|
|
NM_001002295.2(GATA3):c.216G>T (p.Val72=)
|
rs560531559
|
0.00006
|
|
NM_001003800.2(BICD2):c.981G>A (p.Pro327=)
|
rs200288349
|
0.00006
|
|
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=)
|
rs554971107
|
0.00006
|
|
NM_001008537.3(NEXMIF):c.3386T>G (p.Phe1129Cys)
|
rs202207238
|
0.00006
|
|
NM_001011.4(RPS7):c.148-6C>T
|
rs533287773
|
0.00006
|
|
NM_001012339.3(DNAJC21):c.118G>A (p.Ala40Thr)
|
rs775999023
|
0.00006
|
|
NM_001018113.3(FANCB):c.2265A>G (p.Leu755=)
|
rs777812135
|
0.00006
|
|
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys)
|
rs143701205
|
0.00006
|
|
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln)
|
rs755748094
|
0.00006
|
|
NM_001032382.2(PQBP1):c.489C>T (p.Arg163=)
|
rs782276356
|
0.00006
|
|
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=)
|
rs200546427
|
0.00006
|
|
NM_001042413.2(GLIS3):c.1395T>C (p.His465=)
|
rs752606768
|
0.00006
|
|
NM_001042432.2(CLN3):c.290C>T (p.Thr97Met)
|
rs376421578
|
0.00006
|
|
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)
|
rs546073780
|
0.00006
|
|
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=)
|
rs757536610
|
0.00006
|
|
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=)
|
rs147995863
|
0.00006
|
|
NM_001042492.3(NF1):c.6375G>A (p.Leu2125=)
|
rs773467465
|
0.00006
|
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
|
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)
|
rs377393842
|
0.00006
|
|
NM_001048166.1(STIL):c.2359G>A (p.Gly787Ser)
|
rs148818578
|
0.00006
|
|
NM_001048166.1(STIL):c.26G>A (p.Arg9Gln)
|
rs369825711
|
0.00006
|
|
NM_001048166.1(STIL):c.3429C>T (p.Pro1143=)
|
rs144628824
|
0.00006
|
|
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr)
|
rs535544133
|
0.00006
|
|
NM_001083116.3(PRF1):c.1136G>A (p.Arg379Gln)
|
rs746431351
|
0.00006
|
|
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)
|
rs587784543
|
0.00006
|
|
NM_001083961.2(WDR62):c.2972A>T (p.Asp991Val)
|
rs749528768
|
0.00006
|
|
NM_001083961.2(WDR62):c.3515-7G>A
|
rs368668756
|
0.00006
|
|
NM_001083961.2(WDR62):c.4527G>A (p.Ser1509=)
|
rs374574870
|
0.00006
|
|
NM_001083961.2(WDR62):c.656G>A (p.Arg219His)
|
rs375979418
|
0.00006
|
|
NM_001101426.4(CRPPA):c.226C>G (p.Leu76Val)
|
rs939213590
|
0.00006
|
|
NM_001102401.4(TTI2):c.1135C>T (p.Arg379Trp)
|
rs140977711
|
0.00006
|
|
NM_001102401.4(TTI2):c.1506C>T (p.Gly502=)
|
rs200273292
|
0.00006
|
|
NM_001102401.4(TTI2):c.695C>T (p.Thr232Ile)
|
rs369757546
|
0.00006
|
|
NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser)
|
rs782549964
|
0.00006
|
|
NM_001110556.2(FLNA):c.66C>T (p.Asp22=)
|
rs782358007
|
0.00006
|
|
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=)
|
rs61750236
|
0.00006
|
|
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=)
|
rs563218968
|
0.00006
|
|
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)
|
rs933284199
|
0.00006
|
|
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln)
|
rs142322239
|
0.00006
|
|
NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp)
|
rs142866108
|
0.00006
|
|
NM_001126121.2(SLC25A19):c.73T>G (p.Ser25Ala)
|
rs777474053
|
0.00006
|
|
NM_001127208.3(TET2):c.3387T>C (p.Asp1129=)
|
rs367980467
|
0.00006
|
|
NM_001128840.3(CACNA1D):c.2022C>G (p.Gly674=)
|
rs574489819
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn)
|
rs540445580
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile)
|
rs367543124
|
0.00006
|
|
NM_001143992.2(WRAP53):c.1564G>A (p.Ala522Thr)
|
rs769202794
|
0.00006
|
|
NM_001160372.4(TRAPPC9):c.2076C>T (p.Pro692=)
|
rs761179684
|
0.00006
|
|
NM_001160372.4(TRAPPC9):c.2258C>T (p.Ser753Leu)
|
rs766369011
|
0.00006
|
|
NM_001164508.2(NEB):c.16983C>T (p.Leu5661=)
|
rs377481097
|
0.00006
|
|
NM_001184.4(ATR):c.6126T>C (p.Leu2042=)
|
rs200445478
|
0.00006
|
|
NM_001194998.2(CEP152):c.1578-6C>G
|
rs80239443
|
0.00006
|
|
NM_001194998.2(CEP152):c.3429T>G (p.Ala1143=)
|
rs138151279
|
0.00006
|
|
NM_001194998.2(CEP152):c.3867G>A (p.Lys1289=)
|
rs370253625
|
0.00006
|
|
NM_001199397.3(NEK1):c.695G>A (p.Arg232His)
|
rs772747361
|
0.00006
|
|
NM_001244008.2(KIF1A):c.3898G>A (p.Val1300Met)
|
rs797045652
|
0.00006
|
|
NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=)
|
rs771217469
|
0.00006
|
|
NM_001244008.2(KIF1A):c.4683G>A (p.Thr1561=)
|
rs370908366
|
0.00006
|
|
NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met)
|
rs769279843
|
0.00006
|
|
NM_001244008.2(KIF1A):c.883-3C>T
|
rs111507743
|
0.00006
|
|
NM_001247997.2(CLIP1):c.1607A>G (p.Asn536Ser)
|
rs201330075
|
0.00006
|
|
NM_001252.5(CD70):c.48G>A (p.Gly16=)
|
rs145065586
|
0.00006
|
|
NM_001254.4(CDC6):c.790A>G (p.Met264Val)
|
rs587780298
|
0.00006
|
|
NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg)
|
rs545443009
|
0.00006
|
|
NM_001267550.2(TTN):c.20355G>A (p.Ser6785=)
|
rs549470227
|
0.00006
|
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
0.00006
|
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
|
NM_001267550.2(TTN):c.62679C>T (p.Gly20893=)
|
rs188059075
|
0.00006
|
|
NM_001267550.2(TTN):c.64481C>T (p.Pro21494Leu)
|
rs587780492
|
0.00006
|
|
NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu)
|
rs368058280
|
0.00006
|
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
|
NM_001283009.2(RTEL1):c.195C>T (p.Asp65=)
|
rs752413439
|
0.00006
|
|
NM_001283009.2(RTEL1):c.3003G>A (p.Ala1001=)
|
rs368070468
|
0.00006
|
|
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val)
|
rs781427744
|
0.00006
|
|
NM_001330078.2(NRXN1):c.1749C>T (p.Asp583=)
|
rs199934259
|
0.00006
|
|
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile)
|
rs200672080
|
0.00006
|
|
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)
|
rs151195816
|
0.00006
|
|
NM_001330260.2(SCN8A):c.3158T>G (p.Ile1053Ser)
|
rs587780453
|
0.00006
|
|
NM_001349338.3(FOXP1):c.*6G>C
|
rs373960974
|
0.00006
|
|
NM_001353108.3(CEP63):c.1933C>G (p.Gln645Glu)
|
rs200642598
|
0.00006
|
|
NM_001353108.3(CEP63):c.5A>T (p.Glu2Val)
|
rs200994552
|
0.00006
|
|
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys)
|
rs199506852
|
0.00006
|
|
NM_001360.3(DHCR7):c.92G>A (p.Arg31His)
|
rs370307688
|
0.00006
|
|
NM_001365999.1(SZT2):c.8817C>T (p.Pro2939=)
|
rs777808688
|
0.00006
|
|
NM_001366722.1(GRIP1):c.2327G>A (p.Gly776Glu)
|
rs181365280
|
0.00006
|
|
NM_001367721.1(CASK):c.1315-10A>G
|
rs375004542
|
0.00006
|
|
NM_001368397.1(FRMPD4):c.2903C>T (p.Ser968Leu)
|
rs146907470
|
0.00006
|
|
NM_001368397.1(FRMPD4):c.3067T>C (p.Cys1023Arg)
|
rs143929343
|
0.00006
|
|
NM_001374828.1(ARID1B):c.2142G>A (p.Met714Ile)
|
rs142897795
|
0.00006
|
|
NM_001374828.1(ARID1B):c.2517C>T (p.Pro839=)
|
rs541757080
|
0.00006
|
|
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=)
|
rs369351359
|
0.00006
|
|
NM_001376.5(DYNC1H1):c.13092G>T (p.Thr4364=)
|
rs756654668
|
0.00006
|
|
NM_001377.3(DYNC2H1):c.5821G>C (p.Ala1941Pro)
|
rs368058473
|
0.00006
|
|
NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=)
|
rs778594253
|
0.00006
|
|
NM_001377304.1(GFI1B):c.278C>T (p.Ser93Phe)
|
rs1470967398
|
0.00006
|
|
NM_001378120.1(MBD5):c.1141T>C (p.Phe381Leu)
|
rs768570356
|
0.00006
|
|
NM_001378120.1(MBD5):c.1536C>T (p.Ser512=)
|
rs147908860
|
0.00006
|
|
NM_001378120.1(MBD5):c.267T>C (p.Asp89=)
|
rs143333632
|
0.00006
|
|
NM_001378454.1(ALMS1):c.279C>T (p.Pro93=)
|
rs770203539
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)
|
rs377177061
|
0.00006
|
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
|
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro)
|
rs755937050
|
0.00006
|
|
NM_001384125.1(BLTP1):c.283A>G (p.Met95Val)
|
rs199640893
|
0.00006
|
|
NM_001429.4(EP300):c.4482A>G (p.Arg1494=)
|
rs149471059
|
0.00006
|
|
NM_001543.5(NDST1):c.1690G>C (p.Val564Leu)
|
rs774976739
|
0.00006
|
|
NM_001543.5(NDST1):c.2558G>A (p.Arg853Gln)
|
rs371747881
|
0.00006
|
|
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys)
|
rs199696853
|
0.00006
|
|
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg)
|
rs749004431
|
0.00006
|
|
NM_001813.3(CENPE):c.4997A>G (p.Glu1666Gly)
|
rs138953137
|
0.00006
|
|
NM_001813.3(CENPE):c.6645T>G (p.Leu2215=)
|
rs112212702
|
0.00006
|
|
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr)
|
rs768906709
|
0.00006
|
|
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His)
|
rs537763400
|
0.00006
|
|
NM_001904.4(CTNNB1):c.496-7A>T
|
rs754070358
|
0.00006
|
|
NM_001972.4(ELANE):c.375G>A (p.Gly125=)
|
rs201512730
|
0.00006
|
|
NM_001987.5(ETV6):c.1133G>A (p.Arg378Gln)
|
rs146280653
|
0.00006
|
|
NM_002049.4(GATA1):c.571C>T (p.Arg191Cys)
|
rs140561920
|
0.00006
|
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
|
NM_002168.4(IDH2):c.62G>C (p.Trp21Ser)
|
rs776341694
|
0.00006
|
|
NM_002241.5(KCNJ10):c.225T>C (p.Phe75=)
|
rs757159382
|
0.00006
|
|
NM_002303.6(LEPR):c.1038T>C (p.Ser346=)
|
rs369005802
|
0.00006
|
|
NM_002449.5(MSX2):c.286G>T (p.Val96Leu)
|
rs769329948
|
0.00006
|
|
NM_002473.6(MYH9):c.5787C>T (p.Val1929=)
|
rs367698156
|
0.00006
|
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
|
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)
|
rs587781881
|
0.00006
|
|
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly)
|
rs141368794
|
0.00006
|
|
NM_002617.4(PEX10):c.124T>A (p.Trp42Arg)
|
rs942392032
|
0.00006
|
|
NM_002693.3(POLG):c.1761G>A (p.Pro587=)
|
rs374805003
|
0.00006
|
|
NM_002948.5(RPL15):c.-1G>C
|
rs567287618
|
0.00006
|
|
NM_003038.5(SLC1A4):c.765C>T (p.Asn255=)
|
rs200543536
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1119-6T>C
|
rs368180712
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=)
|
rs143600641
|
0.00006
|
|
NM_003072.5(SMARCA4):c.2438+10C>T
|
rs370782232
|
0.00006
|
|
NM_003072.5(SMARCA4):c.888G>A (p.Thr296=)
|
rs545237924
|
0.00006
|
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
|
NM_003124.5(SPR):c.751A>T (p.Lys251Ter)
|
rs121917747
|
0.00006
|
|
NM_003184.4(TAF2):c.732G>A (p.Ala244=)
|
rs374975585
|
0.00006
|
|
NM_003193.5(TBCE):c.898+5A>T
|
rs182294717
|
0.00006
|
|
NM_003235.5(TG):c.6563-3C>T
|
rs200211140
|
0.00006
|
|
NM_003289.4(TPM2):c.-10C>A
|
rs372751531
|
0.00006
|
|
NM_003355.3(UCP2):c.533-10C>T
|
rs757747279
|
0.00006
|
|
NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=)
|
rs370665309
|
0.00006
|
|
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=)
|
rs758265897
|
0.00006
|
|
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)
|
rs143063879
|
0.00006
|
|
NM_003482.4(KMT2D):c.5921C>T (p.Thr1974Met)
|
rs777415982
|
0.00006
|
|
NM_003482.4(KMT2D):c.7904G>A (p.Arg2635Gln)
|
rs200359477
|
0.00006
|
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
|
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg)
|
rs200061013
|
0.00006
|
|
NM_003619.4(PRSS12):c.772G>A (p.Val258Met)
|
rs370713768
|
0.00006
|
|
NM_003922.4(HERC1):c.10424G>A (p.Gly3475Glu)
|
rs201961752
|
0.00006
|
|
NM_003922.4(HERC1):c.11860G>C (p.Asp3954His)
|
rs371581302
|
0.00006
|
|
NM_004153.4(ORC1):c.2436G>A (p.Pro812=)
|
rs776580786
|
0.00006
|
|
NM_004153.4(ORC1):c.943C>T (p.Arg315Cys)
|
rs201265198
|
0.00006
|
|
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala)
|
rs373509391
|
0.00006
|
|
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)
|
rs138085358
|
0.00006
|
|
NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=)
|
rs587783514
|
0.00006
|
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
|
NM_004393.6(DAG1):c.735G>A (p.Pro245=)
|
rs748164001
|
0.00006
|
|
NM_004426.3(PHC1):c.2626C>T (p.Arg876Trp)
|
rs372044180
|
0.00006
|
|
NM_004426.3(PHC1):c.2627G>A (p.Arg876Gln)
|
rs755145737
|
0.00006
|
|
NM_004426.3(PHC1):c.306+7A>G
|
rs199761930
|
0.00006
|
|
NM_004629.2(FANCG):c.766C>T (p.His256Tyr)
|
rs753955326
|
0.00006
|
|
NM_004722.4(AP4M1):c.1357A>G (p.Ile453Val)
|
rs777592786
|
0.00006
|
|
NM_004830.4(MED23):c.3410T>A (p.Val1137Glu)
|
rs758932839
|
0.00006
|
|
NM_004840.3(ARHGEF6):c.1685C>T (p.Ser562Leu)
|
rs774734407
|
0.00006
|
|
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)
|
rs141936187
|
0.00006
|
|
NM_004991.4(MECOM):c.2611G>A (p.Ala871Thr)
|
rs371057960
|
0.00006
|
|
NM_005045.4(RELN):c.3712-5A>G
|
rs370671369
|
0.00006
|
|
NM_005120.3(MED12):c.2220C>T (p.Ile740=)
|
rs370195616
|
0.00006
|
|
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)
|
rs187952822
|
0.00006
|
|
NM_005188.4(CBL):c.869+10A>G
|
rs768380727
|
0.00006
|
|
NM_005236.3(ERCC4):c.389-5C>T
|
rs377224276
|
0.00006
|
|
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser)
|
rs796052455
|
0.00006
|
|
NM_005263.5(GFI1):c.314T>A (p.Met105Lys)
|
rs201301010
|
0.00006
|
|
NM_005334.3(HCFC1):c.1084+8C>T
|
rs367698803
|
0.00006
|
|
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=)
|
rs369716393
|
0.00006
|
|
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val)
|
rs201120953
|
0.00006
|
|
NM_005881.4(BCKDK):c.669T>C (p.Thr223=)
|
rs554631884
|
0.00006
|
|
NM_005921.2(MAP3K1):c.304G>A (p.Gly102Arg)
|
rs531377824
|
0.00006
|
|
NM_006009.4(TUBA1A):c.819C>T (p.Ala273=)
|
rs140795162
|
0.00006
|
|
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro)
|
rs367889013
|
0.00006
|
|
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln)
|
rs761540486
|
0.00006
|
|
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg)
|
rs752992538
|
0.00006
|
|
NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg)
|
rs776223654
|
0.00006
|
|
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe)
|
rs61735804
|
0.00006
|
|
NM_006031.6(PCNT):c.4163G>A (p.Arg1388His)
|
rs775895650
|
0.00006
|
|
NM_006031.6(PCNT):c.5743G>A (p.Ala1915Thr)
|
rs550245456
|
0.00006
|
|
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=)
|
rs755119869
|
0.00006
|
|
NM_006031.6(PCNT):c.7634C>T (p.Ala2545Val)
|
rs150303409
|
0.00006
|
|
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln)
|
rs568559091
|
0.00006
|
|
NM_006031.6(PCNT):c.8569C>T (p.Leu2857=)
|
rs375869631
|
0.00006
|
|
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg)
|
rs373681566
|
0.00006
|
|
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr)
|
rs202170105
|
0.00006
|
|
NM_006059.4(LAMC3):c.4540C>T (p.Arg1514Cys)
|
rs145980204
|
0.00006
|
|
NM_006060.6(IKZF1):c.810C>T (p.Asn270=)
|
rs370585837
|
0.00006
|
|
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp)
|
rs200890522
|
0.00006
|
|
NM_006180.6(NTRK2):c.746C>A (p.Ser249Tyr)
|
rs772111782
|
0.00006
|
|
NM_006420.3(ARFGEF2):c.3003C>T (p.Leu1001=)
|
rs752737205
|
0.00006
|
|
NM_006420.3(ARFGEF2):c.3120C>T (p.Leu1040=)
|
rs751240187
|
0.00006
|
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
|
NM_006516.4(SLC2A1):c.19-5C>T
|
rs376653618
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.245G>A (p.Arg82His)
|
rs577345357
|
0.00006
|
|
NM_006757.4(TNNT3):c.354G>A (p.Gln118=)
|
rs148513274
|
0.00006
|
|
NM_006772.3(SYNGAP1):c.2125C>T (p.Leu709=)
|
rs543705054
|
0.00006
|
|
NM_006946.4(SPTBN2):c.1653+13C>T
|
rs376349935
|
0.00006
|
|
NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His)
|
rs529514462
|
0.00006
|
|
NM_006947.4(SRP72):c.*1018A>G
|
rs779568581
|
0.00006
|
|
NM_006947.4(SRP72):c.133G>A (p.Val45Ile)
|
rs201940585
|
0.00006
|
|
NM_006947.4(SRP72):c.527A>G (p.His176Arg)
|
rs775983847
|
0.00006
|
|
NM_007175.8(ERLIN2):c.219T>C (p.Asn73=)
|
rs377044758
|
0.00006
|
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
|
NM_007259.5(VPS45):c.888G>C (p.Lys296Asn)
|
rs1315600520
|
0.00006
|
|
NM_007294.4(BRCA1):c.*186G>A
|
rs748299111
|
0.00006
|
|
NM_007294.4(BRCA1):c.-62G>A
|
rs776540382
|
0.00006
|
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
|
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr)
|
rs28897682
|
0.00006
|
|
NM_007294.4(BRCA1):c.301+7G>A
|
rs80358113
|
0.00006
|
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
|
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
|
rs28897691
|
0.00006
|
|
NM_007347.5(AP4E1):c.1459T>C (p.Leu487=)
|
rs766895434
|
0.00006
|
|
NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln)
|
rs587780426
|
0.00006
|
|
NM_012233.3(RAB3GAP1):c.2810G>A (p.Arg937Gln)
|
rs762181144
|
0.00006
|
|
NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys)
|
rs751620093
|
0.00006
|
|
NM_012233.3(RAB3GAP1):c.816C>T (p.Cys272=)
|
rs199898437
|
0.00006
|
|
NM_012309.5(SHANK2):c.2122G>A (p.Gly708Arg)
|
rs797045959
|
0.00006
|
|
NM_012309.5(SHANK2):c.2802C>T (p.Pro934=)
|
rs200604911
|
0.00006
|
|
NM_012309.5(SHANK2):c.3120C>T (p.Ser1040=)
|
rs782245412
|
0.00006
|
|
NM_012309.5(SHANK2):c.3960C>T (p.Asp1320=)
|
rs782053793
|
0.00006
|
|
NM_012414.4(RAB3GAP2):c.1657G>A (p.Asp553Asn)
|
rs199952665
|
0.00006
|
|
NM_013275.6(ANKRD11):c.6024C>T (p.Phe2008=)
|
rs375589721
|
0.00006
|
|
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp)
|
rs189033496
|
0.00006
|
|
NM_013339.4(ALG6):c.1314T>C (p.Ile438=)
|
rs146939069
|
0.00006
|
|
NM_013339.4(ALG6):c.816+10A>T
|
rs529032571
|
0.00006
|
|
NM_013339.4(ALG6):c.950T>C (p.Ile317Thr)
|
rs376087919
|
0.00006
|
|
NM_014141.6(CNTNAP2):c.2717G>A (p.Arg906His)
|
rs759801195
|
0.00006
|
|
NM_014141.6(CNTNAP2):c.3595G>A (p.Ala1199Thr)
|
rs727503878
|
0.00006
|
|
NM_014141.6(CNTNAP2):c.402+8A>G
|
rs201311931
|
0.00006
|
|
NM_014141.6(CNTNAP2):c.755-6A>T
|
rs376466129
|
0.00006
|
|
NM_014264.5(PLK4):c.162A>G (p.Val54=)
|
rs199771668
|
0.00006
|
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
0.00006
|
|
NM_014795.4(ZEB2):c.2361T>C (p.Asn787=)
|
rs201567433
|
0.00006
|
|
NM_014832.5(TBC1D4):c.1648A>G (p.Ser550Gly)
|
rs761871582
|
0.00006
|
|
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His)
|
rs753924410
|
0.00006
|
|
NM_015080.4(NRXN2):c.1514C>T (p.Ala505Val)
|
rs200334993
|
0.00006
|
|
NM_015080.4(NRXN2):c.1564C>T (p.Arg522Cys)
|
rs201258323
|
0.00006
|
|
NM_015080.4(NRXN2):c.2463T>C (p.Asn821=)
|
rs71579857
|
0.00006
|
|
NM_015080.4(NRXN2):c.3228A>G (p.Pro1076=)
|
rs371180957
|
0.00006
|
|
NM_015214.3(DDHD2):c.1587G>A (p.Thr529=)
|
rs141814412
|
0.00006
|
|
NM_015214.3(DDHD2):c.628C>A (p.Pro210Thr)
|
rs376771682
|
0.00006
|
|
NM_015275.3(WASHC4):c.1913G>A (p.Arg638His)
|
rs374704979
|
0.00006
|
|
NM_015294.6(TRIM37):c.861C>G (p.Ser287Arg)
|
rs779597971
|
0.00006
|
|
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg)
|
rs146643991
|
0.00006
|
|
NM_015910.7(WDPCP):c.1102C>T (p.Arg368Cys)
|
rs769112221
|
0.00006
|
|
NM_016169.4(SUFU):c.911-7G>A
|
rs558661774
|
0.00006
|
|
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile)
|
rs143449562
|
0.00006
|
|
NM_016222.4(DDX41):c.1016G>A (p.Arg339His)
|
rs774698335
|
0.00006
|
|
NM_016222.4(DDX41):c.1827C>T (p.Ile609=)
|
rs771561040
|
0.00006
|
|
NM_016734.3(PAX5):c.1027G>A (p.Gly343Arg)
|
rs139738432
|
0.00006
|
|
NM_016734.3(PAX5):c.1126G>A (p.Ala376Thr)
|
rs528158465
|
0.00006
|
|
NM_016734.3(PAX5):c.662G>A (p.Arg221Gln)
|
rs142210825
|
0.00006
|
|
NM_016734.3(PAX5):c.990G>A (p.Pro330=)
|
rs145306022
|
0.00006
|
|
NM_017654.4(SAMD9):c.1370A>C (p.Glu457Ala)
|
rs147552284
|
0.00006
|
|
NM_017668.3(NDE1):c.155C>T (p.Thr52Met)
|
rs148118152
|
0.00006
|
|
NM_017721.5(CC2D1A):c.2441C>T (p.Ala814Val)
|
rs779644080
|
0.00006
|
|
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser)
|
rs377724143
|
0.00006
|
|
NM_017755.6(NSUN2):c.891-3T>C
|
rs765461729
|
0.00006
|
|
NM_017757.3(ZNF407):c.1446G>A (p.Ala482=)
|
rs368834630
|
0.00006
|
|
NM_017757.3(ZNF407):c.1664T>C (p.Met555Thr)
|
rs527983284
|
0.00006
|
|
NM_017757.3(ZNF407):c.6526C>T (p.Pro2176Ser)
|
rs371338916
|
0.00006
|
|
NM_017780.4(CHD7):c.3126C>T (p.Asn1042=)
|
rs568551629
|
0.00006
|
|
NM_018013.4(SOBP):c.1725C>G (p.Gly575=)
|
rs778864419
|
0.00006
|
|
NM_018026.4(PACS1):c.1233C>T (p.Ser411=)
|
rs201671985
|
0.00006
|
|
NM_018026.4(PACS1):c.1506G>A (p.Val502=)
|
rs759261910
|
0.00006
|
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
|
NM_018100.4(EFHC1):c.1852-6C>G
|
rs372507832
|
0.00006
|
|
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)
|
rs587783211
|
0.00006
|
|
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn)
|
rs587783218
|
0.00006
|
|
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val)
|
rs552158003
|
0.00006
|
|
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=)
|
rs374040448
|
0.00006
|
|
NM_018136.5(ASPM):c.8557C>T (p.Arg2853Trp)
|
rs150424130
|
0.00006
|
|
NM_018249.6(CDK5RAP2):c.2644C>G (p.Leu882Val)
|
rs587783383
|
0.00006
|
|
NM_018249.6(CDK5RAP2):c.4325C>T (p.Ser1442Leu)
|
rs376138280
|
0.00006
|
|
NM_018249.6(CDK5RAP2):c.4425G>T (p.Lys1475Asn)
|
rs587783389
|
0.00006
|
|
NM_018451.5(CENPJ):c.1880C>T (p.Pro627Leu)
|
rs772020507
|
0.00006
|
|
NM_018451.5(CENPJ):c.3809T>C (p.Ile1270Thr)
|
rs758358045
|
0.00006
|
|
NM_018451.5(CENPJ):c.699G>A (p.Pro233=)
|
rs587783413
|
0.00006
|
|
NM_018943.3(TUBA8):c.249C>T (p.Tyr83=)
|
rs774431958
|
0.00006
|
|
NM_019023.5(PRMT7):c.1494C>T (p.Thr498=)
|
rs61742685
|
0.00006
|
|
NM_019066.5(MAGEL2):c.764C>T (p.Pro255Leu)
|
rs192154215
|
0.00006
|
|
NM_020066.5(FMN2):c.1632G>A (p.Glu544=)
|
rs372095380
|
0.00006
|
|
NM_020223.4(FAM20C):c.480C>T (p.Leu160=)
|
rs962245579
|
0.00006
|
|
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)
|
rs771578775
|
0.00006
|
|
NM_020365.5(EIF2B3):c.833A>G (p.Tyr278Cys)
|
rs199893632
|
0.00006
|
|
NM_020461.4(TUBGCP6):c.2065+9C>T
|
rs781746721
|
0.00006
|
|
NM_020461.4(TUBGCP6):c.3822G>A (p.Pro1274=)
|
rs377666583
|
0.00006
|
|
NM_020461.4(TUBGCP6):c.4051G>C (p.Ala1351Pro)
|
rs200701438
|
0.00006
|
|
NM_020461.4(TUBGCP6):c.4520T>A (p.Phe1507Tyr)
|
rs146136859
|
0.00006
|
|
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln)
|
rs146380332
|
0.00006
|
|
NM_020779.4(WDR35):c.2301G>A (p.Gly767=)
|
rs765743417
|
0.00006
|
|
NM_020921.4(NIN):c.3954T>C (p.Asn1318=)
|
rs142326581
|
0.00006
|
|
NM_020921.4(NIN):c.4898G>A (p.Arg1633Gln)
|
rs375891968
|
0.00006
|
|
NM_020987.5(ANK3):c.1077C>T (p.Pro359=)
|
rs747014545
|
0.00006
|
|
NM_020987.5(ANK3):c.11060C>T (p.Pro3687Leu)
|
rs201289326
|
0.00006
|
|
NM_020987.5(ANK3):c.13086G>A (p.Val4362=)
|
rs768776250
|
0.00006
|
|
NM_020987.5(ANK3):c.1633G>A (p.Glu545Lys)
|
rs765531783
|
0.00006
|
|
NM_020987.5(ANK3):c.2721C>T (p.Leu907=)
|
rs142825560
|
0.00006
|
|
NM_020987.5(ANK3):c.2976G>A (p.Ala992=)
|
rs747475542
|
0.00006
|
|
NM_020987.5(ANK3):c.4110T>C (p.Tyr1370=)
|
rs145575754
|
0.00006
|
|
NM_020987.5(ANK3):c.4699G>A (p.Val1567Met)
|
rs180798231
|
0.00006
|
|
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp)
|
rs768796427
|
0.00006
|
|
NM_022095.4(ZNF335):c.1830C>G (p.Leu610=)
|
rs60180055
|
0.00006
|
|
NM_022095.4(ZNF335):c.3415C>T (p.Arg1139Trp)
|
rs200221426
|
0.00006
|
|
NM_022455.5(NSD1):c.395G>C (p.Cys132Ser)
|
rs28932174
|
0.00006
|
|
NM_022489.4(INF2):c.2599G>A (p.Glu867Lys)
|
rs777850657
|
0.00006
|
|
NM_024101.7(MLPH):c.1538C>T (p.Pro513Leu)
|
rs369604551
|
0.00006
|
|
NM_024301.5(FKRP):c.1140G>A (p.Gly380=)
|
rs552260353
|
0.00006
|
|
NM_024301.5(FKRP):c.563C>T (p.Ala188Val)
|
rs768762059
|
0.00006
|
|
NM_024426.6(WT1):c.696C>T (p.Ser232=)
|
rs9332974
|
0.00006
|
|
NM_024598.4(USB1):c.525C>T (p.Val175=)
|
rs956040185
|
0.00006
|
|
NM_024649.5(BBS1):c.744C>T (p.Pro248=)
|
rs528073027
|
0.00006
|
|
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys)
|
rs760381850
|
0.00006
|
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
|
NM_024675.4(PALB2):c.1935G>A (p.Glu645=)
|
rs141707455
|
0.00006
|
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00006
|
|
NM_024735.5(FBXO31):c.1566G>A (p.Pro522=)
|
rs544042571
|
0.00006
|
|
NM_024735.5(FBXO31):c.999C>T (p.Gly333=)
|
rs371015325
|
0.00006
|
|
NM_024753.5(TTC21B):c.455A>C (p.Asp152Ala)
|
rs145726127
|
0.00006
|
|
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=)
|
rs199839806
|
0.00006
|
|
NM_024824.5(ZC3H14):c.2206G>A (p.Glu736Lys)
|
rs144843433
|
0.00006
|
|
NM_024824.5(ZC3H14):c.825G>A (p.Pro275=)
|
rs376420911
|
0.00006
|
|
NM_024884.3(L2HGDH):c.479G>A (p.Gly160Asp)
|
rs761645660
|
0.00006
|
|
NM_025099.6(CTC1):c.2472C>T (p.Pro824=)
|
rs558802130
|
0.00006
|
|
NM_025114.4(CEP290):c.1440A>G (p.Glu480=)
|
rs777299440
|
0.00006
|
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
|
NM_030665.4(RAI1):c.2669C>T (p.Pro890Leu)
|
rs745320469
|
0.00006
|
|
NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn)
|
rs750911924
|
0.00006
|
|
NM_031407.7(HUWE1):c.147C>T (p.Cys49=)
|
rs149435515
|
0.00006
|
|
NM_032043.3(BRIP1):c.1176A>G (p.Leu392=)
|
rs550092661
|
0.00006
|
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
|
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)
|
rs200412477
|
0.00006
|
|
NM_032415.7(CARD11):c.2597G>A (p.Arg866Gln)
|
rs150990488
|
0.00006
|
|
NM_032444.4(SLX4):c.165C>T (p.Cys55=)
|
rs202030834
|
0.00006
|
|
NM_032444.4(SLX4):c.2424C>T (p.Cys808=)
|
rs774909246
|
0.00006
|
|
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile)
|
rs781323142
|
0.00006
|
|
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp)
|
rs769271628
|
0.00006
|
|
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=)
|
rs139254595
|
0.00006
|
|
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser)
|
rs551385115
|
0.00006
|
|
NM_032444.4(SLX4):c.996G>T (p.Gln332His)
|
rs377201471
|
0.00006
|
|
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu)
|
rs146554939
|
0.00006
|
|
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)
|
rs587780255
|
0.00006
|
|
NM_058216.3(RAD51C):c.870T>A (p.Ile290=)
|
rs376402418
|
0.00006
|
|
NM_133433.4(NIPBL):c.6589+9A>T
|
rs370709104
|
0.00006
|
|
NM_133444.3(ZNF526):c.1485G>A (p.Thr495=)
|
rs369862002
|
0.00006
|
|
NM_133444.3(ZNF526):c.1758G>A (p.Ala586=)
|
rs749529712
|
0.00006
|
|
NM_138387.4(G6PC3):c.169G>A (p.Val57Met)
|
rs150477295
|
0.00006
|
|
NM_138387.4(G6PC3):c.849G>A (p.Lys283=)
|
rs767810900
|
0.00006
|
|
NM_138422.4(ADAT3):c.444G>A (p.Pro148=)
|
rs937114381
|
0.00006
|
|
NM_138501.6(TECR):c.15+10G>A
|
rs776469956
|
0.00006
|
|
NM_139058.3(ARX):c.211A>T (p.Ser71Cys)
|
rs587783194
|
0.00006
|
|
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser)
|
rs201334214
|
0.00006
|
|
NM_144508.5(KNL1):c.3474A>G (p.Thr1158=)
|
rs774901560
|
0.00006
|
|
NM_144508.5(KNL1):c.6164C>T (p.Ala2055Val)
|
rs375595681
|
0.00006
|
|
NM_144508.5(KNL1):c.6172+5T>C
|
rs769654305
|
0.00006
|
|
NM_144508.5(KNL1):c.6425C>T (p.Pro2142Leu)
|
rs202196865
|
0.00006
|
|
NM_144988.4(ALG14):c.325C>T (p.Arg109Trp)
|
rs777101530
|
0.00006
|
|
NM_152296.5(ATP1A3):c.739G>A (p.Val247Met)
|
rs782227665
|
0.00006
|
|
NM_152384.3(BBS5):c.516T>C (p.Ser172=)
|
rs758562179
|
0.00006
|
|
NM_152393.4(KLHL40):c.182G>A (p.Arg61His)
|
rs778276929
|
0.00006
|
|
NM_152564.5(VPS13B):c.10549A>G (p.Lys3517Glu)
|
rs143187571
|
0.00006
|
|
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln)
|
rs371500701
|
0.00006
|
|
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr)
|
rs779082817
|
0.00006
|
|
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=)
|
rs373968888
|
0.00006
|
|
NM_152703.5(SAMD9L):c.2499G>A (p.Leu833=)
|
rs149822295
|
0.00006
|
|
NM_152703.5(SAMD9L):c.4512T>G (p.Asn1504Lys)
|
rs200615225
|
0.00006
|
|
NM_152703.5(SAMD9L):c.626C>T (p.Thr209Met)
|
rs376481930
|
0.00006
|
|
NM_152783.5(D2HGDH):c.600C>G (p.Ile200Met)
|
rs775046649
|
0.00006
|
|
NM_152783.5(D2HGDH):c.685-8G>A
|
rs369498498
|
0.00006
|
|
NM_152783.5(D2HGDH):c.998-3T>C
|
rs760933277
|
0.00006
|
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
|
NM_173495.3(PTCHD1):c.798C>T (p.Arg266=)
|
rs148630483
|
0.00006
|
|
NM_173630.4(RTTN):c.2881A>G (p.Met961Val)
|
rs371633774
|
0.00006
|
|
NM_173728.4(ARHGEF15):c.316C>T (p.Arg106Cys)
|
rs144080590
|
0.00006
|
|
NM_174916.3(UBR1):c.2678C>T (p.Thr893Ile)
|
rs199513326
|
0.00006
|
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
|
NM_175914.5(HNF4A):c.381G>A (p.Leu127=)
|
rs193922473
|
0.00006
|
|
NM_176824.3(BBS7):c.683G>A (p.Arg228His)
|
rs369866009
|
0.00006
|
|
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=)
|
rs754553205
|
0.00006
|
|
NM_181332.3(NLGN4X):c.1380C>T (p.His460=)
|
rs139142498
|
0.00006
|
|
NM_182914.3(SYNE2):c.12397G>T (p.Ala4133Ser)
|
rs758104840
|
0.00006
|
|
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp)
|
rs75153800
|
0.00006
|
|
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)
|
rs190673256
|
0.00006
|
|
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln)
|
rs143900928
|
0.00006
|
|
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)
|
rs200956636
|
0.00006
|
|
NM_194318.4(B3GLCT):c.71-9T>C
|
rs569540121
|
0.00006
|
|
NM_198253.3(TERT):c.-57A>C
|
rs878855297
|
0.00006
|
|
NM_198253.3(TERT):c.129C>T (p.Asp43=)
|
rs772537721
|
0.00006
|
|
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys)
|
rs147521473
|
0.00006
|
|
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)
|
rs149566858
|
0.00006
|
|
NM_198525.3(KIF7):c.222C>T (p.Cys74=)
|
rs527453026
|
0.00006
|
|
NM_198576.4(AGRN):c.2473C>T (p.Arg825Cys)
|
rs370387335
|
0.00006
|
|
NM_198576.4(AGRN):c.4731G>A (p.Pro1577=)
|
rs115885544
|
0.00006
|
|
NM_199242.3(UNC13D):c.3068G>A (p.Arg1023His)
|
rs751157590
|
0.00006
|
|
NM_201384.3(PLEC):c.3915C>T (p.Val1305=)
|
rs377758049
|
0.00006
|
|
NM_201384.3(PLEC):c.5540G>A (p.Arg1847Gln)
|
rs577374823
|
0.00006
|
|
NM_201384.3(PLEC):c.7034G>A (p.Arg2345Gln)
|
rs541098488
|
0.00006
|
|
NM_203290.4(POLR1C):c.79A>G (p.Thr27Ala)
|
rs144054843
|
0.00006
|
|
NM_203447.4(DOCK8):c.1868+6T>C
|
rs777072262
|
0.00006
|
|
NM_203447.4(DOCK8):c.2296G>A (p.Glu766Lys)
|
rs267602235
|
0.00006
|
|
NM_203447.4(DOCK8):c.745G>A (p.Asp249Asn)
|
rs202110964
|
0.00006
|
|
NM_206937.2(LIG4):c.1496T>C (p.Val499Ala)
|
rs201683262
|
0.00006
|
|
NM_000032.5(ALAS2):c.675C>T (p.Gly225=)
|
rs750452355
|
0.00005
|
|
NM_000047.3(ARSL):c.867G>A (p.Gly289=)
|
rs587783181
|
0.00005
|
|
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)
|
rs398123126
|
0.00005
|
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
|
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)
|
rs143972422
|
0.00005
|
|
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)
|
rs121908000
|
0.00005
|
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
|
NM_000059.4(BRCA2):c.3771A>G (p.Pro1257=)
|
rs759855937
|
0.00005
|
|
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=)
|
rs374620036
|
0.00005
|
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
rs80359051
|
0.00005
|
|
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=)
|
rs80359811
|
0.00005
|
|
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp)
|
rs200817090
|
0.00005
|
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
|
NM_000135.4(FANCA):c.2317-8C>T
|
rs753766357
|
0.00005
|
|
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)
|
rs376302719
|
0.00005
|
|
NM_000136.3(FANCC):c.-209C>A
|
rs967004861
|
0.00005
|
|
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)
|
rs730881723
|
0.00005
|
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
|
NM_000146.4(FTL):c.*8C>T
|
rs373178636
|
0.00005
|
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
|
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala)
|
rs768913997
|
0.00005
|
|
NM_000303.3(PMM2):c.524-5G>A
|
rs373584132
|
0.00005
|
|
NM_000346.4(SOX9):c.1165C>A (p.Pro389Thr)
|
rs753584114
|
0.00005
|
|
NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=)
|
rs374853931
|
0.00005
|
|
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser)
|
rs782784813
|
0.00005
|
|
NM_000381.4(MID1):c.342C>T (p.Ala114=)
|
rs765698306
|
0.00005
|
|
NM_000419.5(ITGA2B):c.1210+8A>G
|
rs771317292
|
0.00005
|
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
|
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)
|
rs549474196
|
0.00005
|
|
NM_000489.6(ATRX):c.1077G>T (p.Leu359=)
|
rs782504858
|
0.00005
|
|
NM_000489.6(ATRX):c.1386T>C (p.Ala462=)
|
rs367596462
|
0.00005
|
|
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser)
|
rs371187842
|
0.00005
|
|
NM_000489.6(ATRX):c.4746A>G (p.Thr1582=)
|
rs782097254
|
0.00005
|
|
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)
|
rs200151403
|
0.00005
|
|
NM_000525.4(KCNJ11):c.903C>T (p.Arg301=)
|
rs200855007
|
0.00005
|
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
|
NM_000540.3(RYR1):c.2199G>C (p.Gly733=)
|
rs749285937
|
0.00005
|
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
|
NM_000744.7(CHRNA4):c.1525G>A (p.Ala509Thr)
|
rs142137599
|
0.00005
|
|
NM_000834.5(GRIN2B):c.1500+7G>A
|
rs201094275
|
0.00005
|
|
NM_000939.4(POMC):c.289A>C (p.Ser97Arg)
|
rs746125905
|
0.00005
|
|
NM_001008537.3(NEXMIF):c.2669C>T (p.Pro890Leu)
|
rs377201508
|
0.00005
|
|
NM_001008537.3(NEXMIF):c.381G>A (p.Glu127=)
|
rs148717498
|
0.00005
|
|
NM_001012339.3(DNAJC21):c.915C>T (p.Ala305=)
|
rs189201574
|
0.00005
|
|
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)
|
rs199510538
|
0.00005
|
|
NM_001018115.3(FANCD2):c.1068T>C (p.Tyr356=)
|
rs531943246
|
0.00005
|
|
NM_001029896.2(WDR45):c.99C>T (p.Asn33=)
|
rs139817760
|
0.00005
|
|
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)
|
rs201809337
|
0.00005
|
|
NM_001040616.3(LINS1):c.1347G>A (p.Met449Ile)
|
rs201677311
|
0.00005
|
|
NM_001042413.2(GLIS3):c.2159G>A (p.Arg720Gln)
|
rs200316055
|
0.00005
|
|
NM_001077365.2(POMT1):c.1487-5G>T
|
rs747783069
|
0.00005
|
|
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp)
|
rs886042627
|
0.00005
|
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
|
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)
|
rs143748939
|
0.00005
|
|
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys)
|
rs200909340
|
0.00005
|
|
NM_001082486.2(ACD):c.617A>C (p.His206Pro)
|
rs755371076
|
0.00005
|
|
NM_001082486.2(ACD):c.793C>G (p.Leu265Val)
|
rs200934242
|
0.00005
|
|
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr)
|
rs199529768
|
0.00005
|
|
NM_001083961.2(WDR62):c.1509C>T (p.Asp503=)
|
rs758922011
|
0.00005
|
|
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)
|
rs397515398
|
0.00005
|
|
NM_001102401.4(TTI2):c.638A>G (p.Asp213Gly)
|
rs138419634
|
0.00005
|
|
NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met)
|
rs201396725
|
0.00005
|
|
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro)
|
rs61752371
|
0.00005
|
|
NM_001110792.2(MECP2):c.510G>A (p.Thr170=)
|
rs61748413
|
0.00005
|
|
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=)
|
rs782132072
|
0.00005
|
|
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)
|
rs769248873
|
0.00005
|
|
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp)
|
rs149167939
|
0.00005
|
|
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
|
rs544848412
|
0.00005
|
|
NM_001123385.2(BCOR):c.3486C>T (p.Arg1162=)
|
rs1262548157
|
0.00005
|
|
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=)
|
rs753256966
|
0.00005
|
|
NM_001130987.2(DYSF):c.3939A>G (p.Thr1313=)
|
rs763332737
|
0.00005
|
|
NM_001160372.4(TRAPPC9):c.1177G>A (p.Glu393Lys)
|
rs145782440
|
0.00005
|
|
NM_001160372.4(TRAPPC9):c.1263G>A (p.Ala421=)
|
rs113690180
|
0.00005
|
|
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=)
|
rs371431256
|
0.00005
|
|
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=)
|
rs372952752
|
0.00005
|
|
NM_001184880.2(PCDH19):c.2430C>T (p.Ser810=)
|
rs751223449
|
0.00005
|
|
NM_001184880.2(PCDH19):c.3077C>T (p.Pro1026Leu)
|
rs762888017
|
0.00005
|
|
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His)
|
rs200021840
|
0.00005
|
|
NM_001194998.2(CEP152):c.1155del (p.Thr386fs)
|
rs587783414
|
0.00005
|
|
NM_001194998.2(CEP152):c.3934C>T (p.Arg1312Cys)
|
rs751031882
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1949+7C>T
|
rs555750413
|
0.00005
|
|
NM_001244008.2(KIF1A):c.609-8C>T
|
rs775915390
|
0.00005
|
|
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His)
|
rs756575734
|
0.00005
|
|
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=)
|
rs755839294
|
0.00005
|
|
NM_001267550.2(TTN):c.56296G>C (p.Ala18766Pro)
|
rs727505268
|
0.00005
|
|
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=)
|
rs529480368
|
0.00005
|
|
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=)
|
rs565686460
|
0.00005
|
|
NM_001271938.2(MEGF8):c.2782G>A (p.Ala928Thr)
|
rs372083317
|
0.00005
|
|
NM_001278116.2(L1CAM):c.2872+9G>A
|
rs398123363
|
0.00005
|
|
NM_001278116.2(L1CAM):c.400+9C>T
|
rs201057718
|
0.00005
|
|
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)
|
rs200440128
|
0.00005
|
|
NM_001291303.3(FAT4):c.7848T>G (p.Ile2616Met)
|
rs766719947
|
0.00005
|
|
NM_001303052.2(MYT1L):c.429C>T (p.Asp143=)
|
rs372013056
|
0.00005
|
|
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=)
|
rs563089155
|
0.00005
|
|
NM_001349338.3(FOXP1):c.107G>A (p.Arg36Gln)
|
rs200643313
|
0.00005
|
|
NM_001349338.3(FOXP1):c.1737G>C (p.Glu579Asp)
|
rs756328632
|
0.00005
|
|
NM_001349338.3(FOXP1):c.63C>T (p.Gly21=)
|
rs376702675
|
0.00005
|
|
NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe)
|
rs370748173
|
0.00005
|
|
NM_001365536.1(SCN9A):c.4148A>G (p.Lys1383Arg)
|
rs779536952
|
0.00005
|
|
NM_001365999.1(SZT2):c.4503G>A (p.Val1501=)
|
rs367690658
|
0.00005
|
|
NM_001370100.5(ZMYND11):c.1306G>A (p.Val436Met)
|
rs374548684
|
0.00005
|
|
NM_001370100.5(ZMYND11):c.1776G>A (p.Ala592=)
|
rs770351439
|
0.00005
|
|
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=)
|
rs747708688
|
0.00005
|
|
NM_001372044.2(SHANK3):c.651C>T (p.Asn217=)
|
rs751998473
|
0.00005
|
|
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)
|
rs372740994
|
0.00005
|
|
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile)
|
rs752077571
|
0.00005
|
|
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)
|
rs199530726
|
0.00005
|
|
NM_001378778.1(MPDZ):c.1197A>G (p.Lys399=)
|
rs767284244
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.8674C>T (p.His2892Tyr)
|
rs201404524
|
0.00005
|
|
NM_001387283.1(SMARCA4):c.4174A>G (p.Ile1392Val)
|
rs370424312
|
0.00005
|
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
|
NM_001754.5(RUNX1):c.749G>A (p.Arg250His)
|
rs771614642
|
0.00005
|
|
NM_001830.4(CLCN4):c.705C>G (p.Gly235=)
|
rs777452988
|
0.00005
|
|
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)
|
rs774521989
|
0.00005
|
|
NM_001987.5(ETV6):c.627C>T (p.Ile209=)
|
rs376163010
|
0.00005
|
|
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=)
|
rs774807410
|
0.00005
|
|
NM_002024.6(FMR1):c.714T>C (p.Gly238=)
|
rs200138498
|
0.00005
|
|
NM_002025.4(AFF2):c.1541G>C (p.Arg514Pro)
|
rs369100046
|
0.00005
|
|
NM_002025.4(AFF2):c.733G>A (p.Ala245Thr)
|
rs147842224
|
0.00005
|
|
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr)
|
rs796052726
|
0.00005
|
|
NM_002547.3(OPHN1):c.1722G>A (p.Pro574=)
|
rs752918613
|
0.00005
|
|
NM_002547.3(OPHN1):c.702+8T>C
|
rs369382527
|
0.00005
|
|
NM_002666.5(PLIN1):c.993C>T (p.Leu331=)
|
rs145637118
|
0.00005
|
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
|
NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu)
|
rs149394378
|
0.00005
|
|
NM_003355.3(UCP2):c.-5G>A
|
rs374415462
|
0.00005
|
|
NM_003383.5(VLDLR):c.1307C>A (p.Ala436Glu)
|
rs758404215
|
0.00005
|
|
NM_003383.5(VLDLR):c.746G>A (p.Gly249Asp)
|
rs199615969
|
0.00005
|
|
NM_003467.3(CXCR4):c.219G>A (p.Thr73=)
|
rs909200339
|
0.00005
|
|
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val)
|
rs398123710
|
0.00005
|
|
NM_003482.4(KMT2D):c.13710C>T (p.Thr4570=)
|
rs781047520
|
0.00005
|
|
NM_003482.4(KMT2D):c.15120C>T (p.Asp5040=)
|
rs143955226
|
0.00005
|
|
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val)
|
rs372271746
|
0.00005
|
|
NM_003560.4(PLA2G6):c.39C>T (p.Gly13=)
|
rs201497785
|
0.00005
|
|
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)
|
rs371848382
|
0.00005
|
|
NM_003619.4(PRSS12):c.804G>A (p.Thr268=)
|
rs535801422
|
0.00005
|
|
NM_003619.4(PRSS12):c.817C>G (p.His273Asp)
|
rs780617057
|
0.00005
|
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
|
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)
|
rs202095223
|
0.00005
|
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
0.00005
|
|
NM_004519.4(KCNQ3):c.1995G>A (p.Ser665=)
|
rs759776061
|
0.00005
|
|
NM_004560.4(ROR2):c.2444C>T (p.Pro815Leu)
|
rs770921333
|
0.00005
|
|
NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=)
|
rs142680221
|
0.00005
|
|
NM_004615.4(TSPAN7):c.274G>T (p.Ala92Ser)
|
rs1244445697
|
0.00005
|
|
NM_004629.2(FANCG):c.55A>G (p.Lys19Glu)
|
rs186641344
|
0.00005
|
|
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile)
|
rs574878636
|
0.00005
|
|
NM_004933.3(CDH15):c.2319C>T (p.Phe773=)
|
rs768569547
|
0.00005
|
|
NM_004991.4(MECOM):c.1029C>T (p.Val343=)
|
rs772780683
|
0.00005
|
|
NM_005045.4(RELN):c.2112C>T (p.Ser704=)
|
rs760775607
|
0.00005
|
|
NM_005045.4(RELN):c.3125C>T (p.Ser1042Leu)
|
rs41276145
|
0.00005
|
|
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)
|
rs538054260
|
0.00005
|
|
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly)
|
rs374515645
|
0.00005
|
|
NM_005188.4(CBL):c.2482C>T (p.Pro828Ser)
|
rs371026706
|
0.00005
|
|
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu)
|
rs750883282
|
0.00005
|
|
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met)
|
rs373906926
|
0.00005
|
|
NM_005236.3(ERCC4):c.396G>T (p.Leu132Phe)
|
rs1261870926
|
0.00005
|
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
|
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=)
|
rs371233332
|
0.00005
|
|
NM_005373.3(MPL):c.235_236del (p.Leu79fs)
|
rs587778514
|
0.00005
|
|
NM_005431.2(XRCC2):c.476G>A (p.Arg159His)
|
rs367696886
|
0.00005
|
|
NM_005515.4(MNX1):c.853-4G>T
|
rs751247773
|
0.00005
|
|
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=)
|
rs782244505
|
0.00005
|
|
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=)
|
rs201260657
|
0.00005
|
|
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp)
|
rs549442687
|
0.00005
|
|
NM_005921.2(MAP3K1):c.3667-4G>T
|
rs552563402
|
0.00005
|
|
NM_006015.6(ARID1A):c.1329C>T (p.Gly443=)
|
rs369923774
|
0.00005
|
|
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=)
|
rs144445891
|
0.00005
|
|
NM_006031.6(PCNT):c.8977A>G (p.Thr2993Ala)
|
rs375035745
|
0.00005
|
|
NM_006059.4(LAMC3):c.1696C>T (p.Pro566Ser)
|
rs138637827
|
0.00005
|
|
NM_006059.4(LAMC3):c.460G>A (p.Asp154Asn)
|
rs200873204
|
0.00005
|
|
NM_006118.4(HAX1):c.53+11G>A
|
rs372098620
|
0.00005
|
|
NM_006180.6(NTRK2):c.2331+8A>G
|
rs376032963
|
0.00005
|
|
NM_006231.4(POLE):c.5253C>T (p.Ala1751=)
|
rs765888059
|
0.00005
|
|
NM_006279.5(ST3GAL3):c.945C>T (p.Asp315=)
|
rs748922857
|
0.00005
|
|
NM_006420.3(ARFGEF2):c.1017G>C (p.Gly339=)
|
rs765982548
|
0.00005
|
|
NM_006420.3(ARFGEF2):c.48G>A (p.Glu16=)
|
rs760130632
|
0.00005
|
|
NM_006494.4(ERF):c.885C>T (p.Ser295=)
|
rs758048419
|
0.00005
|
|
NM_006772.3(SYNGAP1):c.2845G>A (p.Gly949Ser)
|
rs141341400
|
0.00005
|
|
NM_006910.5(RBBP6):c.3405G>C (p.Glu1135Asp)
|
rs112763526
|
0.00005
|
|
NM_006947.4(SRP72):c.1384C>T (p.Arg462Trp)
|
rs771523590
|
0.00005
|
|
NM_007118.4(TRIO):c.3067-4A>T
|
rs200412925
|
0.00005
|
|
NM_007254.4(PNKP):c.351T>C (p.Asp117=)
|
rs545664057
|
0.00005
|
|
NM_007254.4(PNKP):c.861G>C (p.Val287=)
|
rs75203375
|
0.00005
|
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
|
NM_007294.4(BRCA1):c.*595G>A
|
rs937158659
|
0.00005
|
|
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)
|
rs55678461
|
0.00005
|
|
NM_007347.5(AP4E1):c.42A>G (p.Gly14=)
|
rs143027953
|
0.00005
|
|
NM_012156.2(EPB41L1):c.57G>A (p.Pro19=)
|
rs768793627
|
0.00005
|
|
NM_012309.5(SHANK2):c.2292G>A (p.Ser764=)
|
rs782696929
|
0.00005
|
|
NM_012309.5(SHANK2):c.2534G>A (p.Arg845Gln)
|
rs782015001
|
0.00005
|
|
NM_013275.6(ANKRD11):c.2805G>A (p.Ser935=)
|
rs149751840
|
0.00005
|
|
NM_013382.7(POMT2):c.871C>G (p.Leu291Val)
|
rs764015186
|
0.00005
|
|
NM_014008.5(CCDC22):c.1600C>T (p.Arg534Trp)
|
rs148054424
|
0.00005
|
|
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=)
|
rs372645983
|
0.00005
|
|
NM_014444.5(TUBGCP4):c.998G>A (p.Arg333His)
|
rs183013671
|
0.00005
|
|
NM_014727.3(KMT2B):c.2519G>A (p.Gly840Asp)
|
rs373552415
|
0.00005
|
|
NM_014915.3(ANKRD26):c.756G>A (p.Pro252=)
|
rs201128867
|
0.00005
|
|
NM_015080.4(NRXN2):c.2044G>A (p.Val682Ile)
|
rs1056113277
|
0.00005
|
|
NM_015450.3(POT1):c.526G>A (p.Gly176Arg)
|
rs774576173
|
0.00005
|
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
|
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)
|
rs377745714
|
0.00005
|
|
NM_016343.4(CENPF):c.5922C>G (p.Thr1974=)
|
rs368250246
|
0.00005
|
|
NM_016734.3(PAX5):c.1026C>T (p.Ser342=)
|
rs767690925
|
0.00005
|
|
NM_017654.4(SAMD9):c.3519A>C (p.Arg1173Ser)
|
rs566059003
|
0.00005
|
|
NM_017654.4(SAMD9):c.4396G>A (p.Gly1466Arg)
|
rs755857667
|
0.00005
|
|
NM_017721.5(CC2D1A):c.2728G>A (p.Glu910Lys)
|
rs767908962
|
0.00005
|
|
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr)
|
rs746638187
|
0.00005
|
|
NM_017757.3(ZNF407):c.2552C>T (p.Thr851Met)
|
rs377128271
|
0.00005
|
|
NM_017757.3(ZNF407):c.6042C>T (p.Pro2014=)
|
rs369887612
|
0.00005
|
|
NM_018136.5(ASPM):c.601A>G (p.Asn201Asp)
|
rs370907931
|
0.00005
|
|
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=)
|
rs756879923
|
0.00005
|
|
NM_018249.6(CDK5RAP2):c.4005-1G>A
|
rs587783387
|
0.00005
|
|
NM_018341.3(ERMARD):c.1394+4C>T
|
rs370765538
|
0.00005
|
|
NM_018451.5(CENPJ):c.1222G>A (p.Glu408Lys)
|
rs192296063
|
0.00005
|
|
NM_018993.4(RIN2):c.942C>T (p.Pro314=)
|
rs371219190
|
0.00005
|
|
NM_020066.5(FMN2):c.1884A>G (p.Pro628=)
|
rs369120788
|
0.00005
|
|
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp)
|
rs373971613
|
0.00005
|
|
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met)
|
rs578189699
|
0.00005
|
|
NM_020461.4(TUBGCP6):c.4954+10C>T
|
rs200824422
|
0.00005
|
|
NM_020461.4(TUBGCP6):c.945G>A (p.Ala315=)
|
rs144685624
|
0.00005
|
|
NM_020639.3(RIPK4):c.906C>T (p.Asp302=)
|
rs142027135
|
0.00005
|
|
NM_020717.5(SHROOM4):c.4321C>T (p.Arg1441Cys)
|
rs200813819
|
0.00005
|
|
NM_020738.4(KIDINS220):c.1729T>C (p.Leu577=)
|
rs775304274
|
0.00005
|
|
NM_020822.3(KCNT1):c.1510+4C>T
|
rs554828530
|
0.00005
|
|
NM_020831.6(MRTFA):c.918A>G (p.Thr306=)
|
rs746840945
|
0.00005
|
|
NM_020921.4(NIN):c.471G>A (p.Ala157=)
|
rs200517297
|
0.00005
|
|
NM_020975.6(RET):c.2418C>T (p.Tyr806=)
|
rs553418132
|
0.00005
|
|
NM_020987.5(ANK3):c.1644C>T (p.Ala548=)
|
rs537093045
|
0.00005
|
|
NM_020987.5(ANK3):c.3139G>A (p.Val1047Ile)
|
rs535526499
|
0.00005
|
|
NM_021008.4(DEAF1):c.1010C>G (p.Pro337Arg)
|
rs372135504
|
0.00005
|
|
NM_021871.4(FGA):c.1833C>T (p.Ala611=)
|
rs758105079
|
0.00005
|
|
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr)
|
rs768911543
|
0.00005
|
|
NM_021956.5(GRIK2):c.1287C>T (p.Ser429=)
|
rs752702455
|
0.00005
|
|
NM_021969.3(NR0B2):c.532G>A (p.Asp178Asn)
|
rs201991593
|
0.00005
|
|
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
|
rs199922550
|
0.00005
|
|
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)
|
rs142023792
|
0.00005
|
|
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln)
|
rs368706736
|
0.00005
|
|
NM_022725.4(FANCF):c.873A>G (p.Lys291=)
|
rs757578045
|
0.00005
|
|
NM_024735.5(FBXO31):c.996+10G>A
|
rs375978532
|
0.00005
|
|
NM_024747.6(HPS6):c.1561A>G (p.Thr521Ala)
|
rs1019636238
|
0.00005
|
|
NM_024757.5(EHMT1):c.2996C>T (p.Ala999Val)
|
rs747347498
|
0.00005
|
|
NM_024757.5(EHMT1):c.309G>A (p.Ala103=)
|
rs138824805
|
0.00005
|
|
NM_025009.5(CEP135):c.502C>T (p.Arg168Cys)
|
rs750392584
|
0.00005
|
|
NM_025074.7(FRAS1):c.3059G>A (p.Arg1020His)
|
rs773906563
|
0.00005
|
|
NM_025074.7(FRAS1):c.4807C>T (p.Arg1603Trp)
|
rs961911715
|
0.00005
|
|
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)
|
rs142211875
|
0.00005
|
|
NM_030665.4(RAI1):c.1276C>T (p.Leu426=)
|
rs747528529
|
0.00005
|
|
NM_030665.4(RAI1):c.3030C>A (p.Ala1010=)
|
rs542714936
|
0.00005
|
|
NM_030665.4(RAI1):c.387A>G (p.Pro129=)
|
rs199605856
|
0.00005
|
|
NM_030665.4(RAI1):c.925G>A (p.Ala309Thr)
|
rs542056789
|
0.00005
|
|
NM_030787.4(CFHR5):c.1304G>A (p.Arg435Gln)
|
rs776538115
|
0.00005
|
|
NM_030973.4(MED25):c.1572C>T (p.Gly524=)
|
rs559482732
|
0.00005
|
|
NM_031407.7(HUWE1):c.5373T>C (p.Tyr1791=)
|
rs782516736
|
0.00005
|
|
NM_031466.8(TRAPPC9):c.-73G>C
|
rs767996463
|
0.00005
|
|
NM_032415.7(CARD11):c.1485G>A (p.Pro495=)
|
rs375570275
|
0.00005
|
|
NM_032415.7(CARD11):c.2578G>A (p.Gly860Ser)
|
rs368181734
|
0.00005
|
|
NM_032444.4(SLX4):c.1379G>A (p.Arg460His)
|
rs369994733
|
0.00005
|
|
NM_032444.4(SLX4):c.2112C>T (p.Tyr704=)
|
rs566797597
|
0.00005
|
|
NM_032444.4(SLX4):c.2259C>G (p.His753Gln)
|
rs374294258
|
0.00005
|
|
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala)
|
rs151144102
|
0.00005
|
|
NM_032444.4(SLX4):c.5476C>T (p.Arg1826Trp)
|
rs199736788
|
0.00005
|
|
NM_032638.5(GATA2):c.1431C>T (p.Thr477=)
|
rs754297885
|
0.00005
|
|
NM_032638.5(GATA2):c.49C>T (p.Leu17=)
|
rs752025757
|
0.00005
|
|
NM_032806.6(POMGNT2):c.12G>A (p.Ser4=)
|
rs368531523
|
0.00005
|
|
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)
|
rs143000400
|
0.00005
|
|
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)
|
rs587783890
|
0.00005
|
|
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser)
|
rs143152112
|
0.00005
|
|
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr)
|
rs776954687
|
0.00005
|
|
NM_138422.4(ADAT3):c.362C>T (p.Ser121Leu)
|
rs1016737811
|
0.00005
|
|
NM_144969.3(ZDHHC15):c.269C>G (p.Ser90Cys)
|
rs140245521
|
0.00005
|
|
NM_152384.3(BBS5):c.-2C>A
|
rs199854347
|
0.00005
|
|
NM_152384.3(BBS5):c.190T>C (p.Leu64=)
|
rs777369461
|
0.00005
|
|
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=)
|
rs139227281
|
0.00005
|
|
NM_152564.5(VPS13B):c.10939G>A (p.Ala3647Thr)
|
rs868118584
|
0.00005
|
|
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr)
|
rs148788159
|
0.00005
|
|
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu)
|
rs183874686
|
0.00005
|
|
NM_153252.5(BRWD3):c.1300T>C (p.Tyr434His)
|
rs779094763
|
0.00005
|
|
NM_153252.5(BRWD3):c.2105G>A (p.Ser702Asn)
|
rs797045417
|
0.00005
|
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
|
NM_173495.3(PTCHD1):c.2031G>T (p.Val677=)
|
rs372665873
|
0.00005
|
|
NM_173495.3(PTCHD1):c.217C>T (p.Leu73Phe)
|
rs373105249
|
0.00005
|
|
NM_173630.4(RTTN):c.3401C>G (p.Pro1134Arg)
|
rs751565369
|
0.00005
|
|
NM_175914.4(HNF4A):c.-378T>A
|
rs1048936817
|
0.00005
|
|
NM_175914.5(HNF4A):c.241G>A (p.Val81Met)
|
rs772786482
|
0.00005
|
|
NM_181741.4(ORC4):c.763-4T>G
|
rs769409347
|
0.00005
|
|
NM_182895.5(SCARF2):c.1907C>T (p.Ala636Val)
|
rs984158225
|
0.00005
|
|
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser)
|
rs143148040
|
0.00005
|
|
NM_198253.3(TERT):c.2287-5G>A
|
rs561426406
|
0.00005
|
|
NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly)
|
rs201876934
|
0.00005
|
|
NM_198428.3(BBS9):c.270C>T (p.Thr90=)
|
rs747398844
|
0.00005
|
|
NM_198576.4(AGRN):c.526C>T (p.Leu176=)
|
rs544749044
|
0.00005
|
|
NM_199242.3(UNC13D):c.898G>A (p.Val300Met)
|
rs141499220
|
0.00005
|
|
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His)
|
rs369581930
|
0.00005
|
|
NM_201525.4(ADGRG1):c.1787A>G (p.His596Arg)
|
rs576843318
|
0.00005
|
|
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)
|
rs536254357
|
0.00004
|
|
NM_000032.5(ALAS2):c.713A>T (p.Glu238Val)
|
rs137978657
|
0.00004
|
|
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)
|
rs781900720
|
0.00004
|
|
NM_000038.6(APC):c.3368A>C (p.Gln1123Pro)
|
rs587779789
|
0.00004
|
|
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)
|
rs779898882
|
0.00004
|
|
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)
|
rs122460151
|
0.00004
|
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
|
NM_000051.4(ATM):c.1837G>T (p.Val613Leu)
|
rs200124136
|
0.00004
|
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
|
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe)
|
rs587781296
|
0.00004
|
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
|
NM_000051.4(ATM):c.6114C>T (p.His2038=)
|
rs774993357
|
0.00004
|
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
|
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)
|
rs145029382
|
0.00004
|
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
|
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg)
|
rs370073229
|
0.00004
|
|
NM_000057.4(BLM):c.451A>G (p.Ile151Val)
|
rs780472557
|
0.00004
|
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
|
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=)
|
rs786201327
|
0.00004
|
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
|
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His)
|
rs56070345
|
0.00004
|
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
|
NM_000064.4(C3):c.4803C>T (p.His1601=)
|
rs762332809
|
0.00004
|
|
NM_000070.3(CAPN3):c.1557C>T (p.His519=)
|
rs368385372
|
0.00004
|
|
NM_000096.4(CP):c.1960G>A (p.Asp654Asn)
|
rs755243937
|
0.00004
|
|
NM_000096.4(CP):c.530G>A (p.Arg177Lys)
|
rs142350562
|
0.00004
|
|
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)
|
rs759372918
|
0.00004
|
|
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)
|
rs140785340
|
0.00004
|
|
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)
|
rs587778315
|
0.00004
|
|
NM_000135.4(FANCA):c.2982-8C>G
|
rs781331325
|
0.00004
|
|
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
|
rs200022826
|
0.00004
|
|
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=)
|
rs187074190
|
0.00004
|
|
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu)
|
rs576079738
|
0.00004
|
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
|
NM_000136.3(FANCC):c.*7C>T
|
rs372511678
|
0.00004
|
|
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp)
|
rs140348260
|
0.00004
|
|
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser)
|
rs201379302
|
0.00004
|
|
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys)
|
rs752855423
|
0.00004
|
|
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)
|
rs147479204
|
0.00004
|
|
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile)
|
rs778966663
|
0.00004
|
|
NM_000144.5(FXN):c.389G>T (p.Gly130Val)
|
rs104894107
|
0.00004
|
|
NM_000173.7(GP1BA):c.1173C>T (p.Pro391=)
|
rs369052917
|
0.00004
|
|
NM_000173.7(GP1BA):c.552G>C (p.Leu184=)
|
rs753032168
|
0.00004
|
|
NM_000179.3(MSH6):c.1661G>A (p.Arg554His)
|
rs730881791
|
0.00004
|
|
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)
|
rs190075874
|
0.00004
|
|
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)
|
rs773807182
|
0.00004
|
|
NM_000179.3(MSH6):c.4001+10dup
|
rs730882138
|
0.00004
|
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
|
NM_000195.5(HPS1):c.1167G>A (p.Ala389=)
|
rs775117501
|
0.00004
|
|
NM_000197.2(HSD17B3):c.278-1G>C
|
rs149607031
|
0.00004
|
|
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)
|
rs119481079
|
0.00004
|
|
NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val)
|
rs142236065
|
0.00004
|
|
NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu)
|
rs372027264
|
0.00004
|
|
NM_000207.3(INS):c.-46A>G
|
rs772426967
|
0.00004
|
|
NM_000208.4(INSR):c.1084G>A (p.Val362Ile)
|
rs72549237
|
0.00004
|
|
NM_000237.3(LPL):c.662T>C (p.Ile221Thr)
|
rs118204061
|
0.00004
|
|
NM_000239.3(LYZ):c.175C>T (p.Arg59Ter)
|
rs374990260
|
0.00004
|
|
NM_000239.3(LYZ):c.434G>A (p.Gly145Asp)
|
rs762616173
|
0.00004
|
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
|
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)
|
rs779759678
|
0.00004
|
|
NM_000251.3(MSH2):c.-58del
|
rs1213072301
|
0.00004
|
|
NM_000268.4(NF2):c.325C>T (p.Leu109=)
|
rs201603384
|
0.00004
|
|
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)
|
rs757286784
|
0.00004
|
|
NM_000275.3(OCA2):c.1201T>C (p.Phe401Leu)
|
rs145880356
|
0.00004
|
|
NM_000334.4(SCN4A):c.4288+6C>T
|
rs148187651
|
0.00004
|
|
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn)
|
rs376697724
|
0.00004
|
|
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)
|
rs67767715
|
0.00004
|
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
|
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)
|
rs62645916
|
0.00004
|
|
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)
|
rs62645917
|
0.00004
|
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
|
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)
|
rs782761074
|
0.00004
|
|
NM_000381.4(MID1):c.420C>G (p.Ser140=)
|
rs201845920
|
0.00004
|
|
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)
|
rs567385461
|
0.00004
|
|
NM_000426.4(LAMA2):c.9254G>A (p.Arg3085Gln)
|
rs776606476
|
0.00004
|
|
NM_000458.3(HNF1B):c.-338C>A
|
rs935794447
|
0.00004
|
|
NM_000463.3(UGT1A1):c.1354G>T (p.Val452Leu)
|
rs587784536
|
0.00004
|
|
NM_000465.4(BARD1):c.253G>T (p.Val85Leu)
|
rs370359540
|
0.00004
|
|
NM_000465.4(BARD1):c.365-7C>T
|
rs745929983
|
0.00004
|
|
NM_000479.5(AMH):c.824+10G>C
|
rs774808404
|
0.00004
|
|
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)
|
rs587780284
|
0.00004
|
|
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)
|
rs782705007
|
0.00004
|
|
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=)
|
rs140476563
|
0.00004
|
|
NM_000525.4(KCNJ11):c.567C>T (p.Ile189=)
|
rs114899765
|
0.00004
|
|
NM_000534.5(PMS1):c.2612G>A (p.Arg871His)
|
rs760863069
|
0.00004
|
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
|
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln)
|
rs63751284
|
0.00004
|
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
|
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp)
|
rs575780192
|
0.00004
|
|
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=)
|
rs772756175
|
0.00004
|
|
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)
|
rs143753579
|
0.00004
|
|
NM_000546.6(TP53):c.-48G>A
|
rs531575965
|
0.00004
|
|
NM_000546.6(TP53):c.102C>G (p.Pro34=)
|
rs11575998
|
0.00004
|
|
NM_000546.6(TP53):c.141G>A (p.Pro47=)
|
rs201741778
|
0.00004
|
|
NM_000548.5(TSC2):c.2639+10C>T
|
rs137854378
|
0.00004
|
|
NM_000548.5(TSC2):c.5313G>A (p.Pro1771=)
|
rs765607686
|
0.00004
|
|
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp)
|
rs752325760
|
0.00004
|
|
NM_000760.4(CSF3R):c.1101G>C (p.Arg367=)
|
rs1447131096
|
0.00004
|
|
NM_000760.4(CSF3R):c.722C>T (p.Ala241Val)
|
rs199991273
|
0.00004
|
|
NM_000781.3(CYP11A1):c.829+3G>C
|
rs369873220
|
0.00004
|
|
NM_000969.5(RPL5):c.403A>G (p.Ile135Val)
|
rs200075817
|
0.00004
|
|
NM_000975.5(RPL11):c.6+8G>C
|
rs201469553
|
0.00004
|
|
NM_001004320.2(AGMO):c.148T>A (p.Leu50Met)
|
rs370958429
|
0.00004
|
|
NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=)
|
rs749479992
|
0.00004
|
|
NM_001012339.3(DNAJC21):c.414A>G (p.Gly138=)
|
rs888250694
|
0.00004
|
|
NM_001012339.3(DNAJC21):c.921C>T (p.Asp307=)
|
rs746205033
|
0.00004
|
|
NM_001014.5(RPS10):c.204C>T (p.Tyr68=)
|
rs368563040
|
0.00004
|
|
NM_001018113.3(FANCB):c.2394C>T (p.Val798=)
|
rs190579053
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2309A>G (p.Lys770Arg)
|
rs533245636
|
0.00004
|
|
NM_001018115.3(FANCD2):c.4281+107T>C
|
rs767893462
|
0.00004
|
|
NM_001022.4(RPS19):c.192G>C (p.Leu64=)
|
rs144069838
|
0.00004
|
|
NM_001024613.4(FEZF1):c.1020C>G (p.Gly340=)
|
rs148805926
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1841C>T (p.Pro614Leu)
|
rs143734912
|
0.00004
|
|
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val)
|
rs773968270
|
0.00004
|
|
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=)
|
rs375776474
|
0.00004
|
|
NM_001070.5(TUBG1):c.466C>T (p.Arg156Trp)
|
rs748889906
|
0.00004
|
|
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter)
|
rs202202445
|
0.00004
|
|
NM_001079802.2(FKTN):c.207T>C (p.Asn69=)
|
rs752921570
|
0.00004
|
|
NM_001080414.4(CCDC88C):c.1126C>T (p.Arg376Trp)
|
rs754564295
|
0.00004
|
|
NM_001080414.4(CCDC88C):c.4894G>A (p.Glu1632Lys)
|
rs377095559
|
0.00004
|
|
NM_001080517.3(SETD5):c.1272A>G (p.Pro424=)
|
rs760893886
|
0.00004
|
|
NM_001082486.2(ACD):c.513T>G (p.Leu171=)
|
rs755523137
|
0.00004
|
|
NM_001083961.2(WDR62):c.2490C>T (p.Asn830=)
|
rs587784547
|
0.00004
|
|
NM_001083961.2(WDR62):c.589G>A (p.Val197Ile)
|
rs535488873
|
0.00004
|
|
NM_001099274.3(TINF2):c.30A>G (p.Ala10=)
|
rs779819186
|
0.00004
|
|
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His)
|
rs782563602
|
0.00004
|
|
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)
|
rs782426283
|
0.00004
|
|
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His)
|
rs111302745
|
0.00004
|
|
NM_001110792.2(MECP2):c.750G>A (p.Gly250=)
|
rs369813305
|
0.00004
|
|
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)
|
rs782239416
|
0.00004
|
|
NM_001111077.2(EZR):c.1177C>T (p.Arg393Cys)
|
rs373495274
|
0.00004
|
|
NM_001113378.2(FANCI):c.2097C>T (p.Tyr699=)
|
rs148415946
|
0.00004
|
|
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln)
|
rs772401747
|
0.00004
|
|
NM_001113378.2(FANCI):c.550G>C (p.Val184Leu)
|
rs571745030
|
0.00004
|
|
NM_001113525.2(ZNF276):c.*2548T>C
|
rs368372404
|
0.00004
|
|
NM_001126121.2(SLC25A19):c.332G>A (p.Ser111Asn)
|
rs587780461
|
0.00004
|
|
NM_001127208.3(TET2):c.3028G>A (p.Glu1010Lys)
|
rs1173700891
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
|
NM_001128164.2(ATXN1):c.636G>T (p.Gln212His)
|
rs376233432
|
0.00004
|
|
NM_001128840.3(CACNA1D):c.3369C>A (p.Asn1123Lys)
|
rs753177006
|
0.00004
|
|
NM_001128840.3(CACNA1D):c.4401C>T (p.Phe1467=)
|
rs747138141
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp)
|
rs569997507
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=)
|
rs113847665
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.883G>A (p.Gly295Ser)
|
rs568484876
|
0.00004
|
|
NM_001142784.3(IL11RA):c.532G>T (p.Ala178Ser)
|
rs375021779
|
0.00004
|
|
NM_001143992.2(WRAP53):c.893G>A (p.Arg298Gln)
|
rs560038082
|
0.00004
|
|
NM_001145306.2(CDK6):c.894A>G (p.Pro298=)
|
rs371298524
|
0.00004
|
|
NM_001145358.2(SIN3A):c.2519A>G (p.Glu840Gly)
|
rs371395364
|
0.00004
|
|
NM_001160372.4(TRAPPC9):c.2037G>A (p.Pro679=)
|
rs371880751
|
0.00004
|
|
NM_001160372.4(TRAPPC9):c.2811-5C>T
|
rs534788967
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.825A>G (p.Arg275=)
|
rs776877666
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)
|
rs370624118
|
0.00004
|
|
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser)
|
rs796052790
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=)
|
rs543285265
|
0.00004
|
|
NM_001194998.2(CEP152):c.1862T>C (p.Ile621Thr)
|
rs372860195
|
0.00004
|
|
NM_001194998.2(CEP152):c.2068C>T (p.Arg690Cys)
|
rs587783419
|
0.00004
|
|
NM_001197104.2(KMT2A):c.10835+1G>C
|
rs141515578
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr)
|
rs367710709
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His)
|
rs545689324
|
0.00004
|
|
NM_001202.6(BMP4):c.252G>A (p.Arg84=)
|
rs781435238
|
0.00004
|
|
NM_001206999.2(CIT):c.357C>T (p.Thr119=)
|
rs529331889
|
0.00004
|
|
NM_001206999.2(CIT):c.845T>C (p.Leu282Pro)
|
rs767026682
|
0.00004
|
|
NM_001244008.2(KIF1A):c.1862C>T (p.Thr621Met)
|
rs760338913
|
0.00004
|
|
NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=)
|
rs745898229
|
0.00004
|
|
NM_001247997.2(CLIP1):c.3249+10G>A
|
rs368149044
|
0.00004
|
|
NM_001247997.2(CLIP1):c.4226A>G (p.His1409Arg)
|
rs765475076
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His)
|
rs530540257
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1859T>C (p.Leu620Pro)
|
rs569988158
|
0.00004
|
|
NM_001253852.3(AP4B1):c.682C>T (p.Arg228Cys)
|
rs371514044
|
0.00004
|
|
NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys)
|
rs370649675
|
0.00004
|
|
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu)
|
rs200598509
|
0.00004
|
|
NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp)
|
rs200489972
|
0.00004
|
|
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr)
|
rs369094355
|
0.00004
|
|
NM_001267550.2(TTN):c.47129G>A (p.Arg15710His)
|
rs185689179
|
0.00004
|
|
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser)
|
rs372404266
|
0.00004
|
|
NM_001267550.2(TTN):c.51066C>T (p.Ala17022=)
|
rs762091746
|
0.00004
|
|
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val)
|
rs773447539
|
0.00004
|
|
NM_001267550.2(TTN):c.54813T>G (p.Phe18271Leu)
|
rs370583314
|
0.00004
|
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
|
NM_001276270.2(MBD4):c.111A>T (p.Glu37Asp)
|
rs200224645
|
0.00004
|
|
NM_001283009.2(RTEL1):c.2427C>T (p.Ala809=)
|
rs767770069
|
0.00004
|
|
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His)
|
rs376429571
|
0.00004
|
|
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)
|
rs140332992
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.723T>C (p.His241=)
|
rs373333959
|
0.00004
|
|
NM_001330078.2(NRXN1):c.3344G>A (p.Ser1115Asn)
|
rs201871194
|
0.00004
|
|
NM_001330078.2(NRXN1):c.3675G>A (p.Thr1225=)
|
rs200179221
|
0.00004
|
|
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=)
|
rs587781101
|
0.00004
|
|
NM_001330078.2(NRXN1):c.782A>G (p.Asn261Ser)
|
rs141903943
|
0.00004
|
|
NM_001330260.2(SCN8A):c.3491-10C>T
|
rs373221046
|
0.00004
|
|
NM_001347721.2(DYRK1A):c.1509G>A (p.Ser503=)
|
rs763907769
|
0.00004
|
|
NM_001347721.2(DYRK1A):c.426C>T (p.Asn142=)
|
rs374444950
|
0.00004
|
|
NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=)
|
rs147995584
|
0.00004
|
|
NM_001349338.3(FOXP1):c.450A>G (p.Gln150=)
|
rs1433777499
|
0.00004
|
|
NM_001353108.3(CEP63):c.653A>G (p.Asp218Gly)
|
rs200697453
|
0.00004
|
|
NM_001353108.3(CEP63):c.935G>A (p.Arg312Gln)
|
rs371924128
|
0.00004
|
|
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=)
|
rs138198839
|
0.00004
|
|
NM_001354604.2(MITF):c.1494A>C (p.Pro498=)
|
rs777982903
|
0.00004
|
|
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)
|
rs567600444
|
0.00004
|
|
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val)
|
rs782631659
|
0.00004
|
|
NM_001364905.1(LRBA):c.7021C>T (p.Arg2341Cys)
|
rs139428686
|
0.00004
|
|
NM_001364905.1(LRBA):c.7177G>A (p.Val2393Ile)
|
rs202243949
|
0.00004
|
|
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=)
|
rs780157180
|
0.00004
|
|
NM_001366110.1(PAX4):c.449C>T (p.Pro150Leu)
|
rs758317971
|
0.00004
|
|
NM_001368397.1(FRMPD4):c.2048A>G (p.Glu683Gly)
|
rs760597864
|
0.00004
|
|
NM_001368397.1(FRMPD4):c.3938G>A (p.Arg1313Gln)
|
rs759503727
|
0.00004
|
|
NM_001372044.2(SHANK3):c.1513G>A (p.Gly505Ser)
|
rs563454435
|
0.00004
|
|
NM_001374353.1(GLI2):c.2253G>A (p.Leu751=)
|
rs140033553
|
0.00004
|
|
NM_001374828.1(ARID1B):c.4509C>T (p.Tyr1503=)
|
rs377021700
|
0.00004
|
|
NM_001374828.1(ARID1B):c.4714G>A (p.Gly1572Ser)
|
rs141461351
|
0.00004
|
|
NM_001374828.1(ARID1B):c.4831C>T (p.Pro1611Ser)
|
rs765827636
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.2612A>G (p.His871Arg)
|
rs368026551
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.3419C>T (p.Thr1140Met)
|
rs587780331
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.8637+9C>T
|
rs202042156
|
0.00004
|
|
NM_001378120.1(MBD5):c.2370C>T (p.Ser790=)
|
rs376037852
|
0.00004
|
|
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)
|
rs775673512
|
0.00004
|
|
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val)
|
rs568826753
|
0.00004
|
|
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)
|
rs772624348
|
0.00004
|
|
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln)
|
rs778162209
|
0.00004
|
|
NM_001379110.1(SLC9A6):c.*6C>T
|
rs781874329
|
0.00004
|
|
NM_001379500.1(COL18A1):c.1596G>T (p.Gly532=)
|
rs767408595
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)
|
rs141507441
|
0.00004
|
|
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)
|
rs752078407
|
0.00004
|
|
NM_001395413.1(POR):c.1661-4G>A
|
rs372733766
|
0.00004
|
|
NM_001395413.1(POR):c.723-2A>T
|
rs782343026
|
0.00004
|
|
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn)
|
rs141403873
|
0.00004
|
|
NM_001493.3(GDI1):c.1122G>A (p.Glu374=)
|
rs782232197
|
0.00004
|
|
NM_001493.3(GDI1):c.1212C>T (p.Tyr404=)
|
rs145910134
|
0.00004
|
|
NM_001543.5(NDST1):c.169G>A (p.Gly57Arg)
|
rs540715914
|
0.00004
|
|
NM_001543.5(NDST1):c.1800G>A (p.Thr600=)
|
rs778115933
|
0.00004
|
|
NM_001543.5(NDST1):c.600C>T (p.Ile200=)
|
rs762510239
|
0.00004
|
|
NM_001543.5(NDST1):c.730C>T (p.Arg244Cys)
|
rs375092472
|
0.00004
|
|
NM_001614.5(ACTG1):c.81C>T (p.Pro27=)
|
rs11549230
|
0.00004
|
|
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=)
|
rs769628054
|
0.00004
|
|
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly)
|
rs751710767
|
0.00004
|
|
NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys)
|
rs759078185
|
0.00004
|
|
NM_001807.6(CEL):c.998T>C (p.Ile333Thr)
|
rs368511384
|
0.00004
|
|
NM_001813.3(CENPE):c.3435T>A (p.Asn1145Lys)
|
rs374126277
|
0.00004
|
|
NM_001813.3(CENPE):c.7202A>G (p.Glu2401Gly)
|
rs762068581
|
0.00004
|
|
NM_001813.3(CENPE):c.739G>A (p.Ala247Thr)
|
rs138379874
|
0.00004
|
|
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)
|
rs139552940
|
0.00004
|
|
NM_001903.5(CTNNA1):c.2238C>G (p.Ala746=)
|
rs199723374
|
0.00004
|
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
|
NM_001972.4(ELANE):c.456G>A (p.Leu152=)
|
rs200599820
|
0.00004
|
|
NM_001972.4(ELANE):c.568G>A (p.Val190Met)
|
rs367663236
|
0.00004
|
|
NM_001987.5(ETV6):c.196G>A (p.Val66Ile)
|
rs139975161
|
0.00004
|
|
NM_002049.4(GATA1):c.982G>A (p.Glu328Lys)
|
rs1418790540
|
0.00004
|
|
NM_002397.5(MEF2C):c.312C>T (p.Asp104=)
|
rs587781034
|
0.00004
|
|
NM_002439.5(MSH3):c.1858G>A (p.Asp620Asn)
|
rs200337887
|
0.00004
|
|
NM_002472.3(MYH8):c.161T>C (p.Ile54Thr)
|
rs375148987
|
0.00004
|
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
|
NM_002485.5(NBN):c.720C>T (p.Ser240=)
|
rs781323381
|
0.00004
|
|
NM_002528.7(NTHL1):c.222C>G (p.Leu74=)
|
rs778667153
|
0.00004
|
|
NM_002582.4(PARN):c.19A>C (p.Asn7His)
|
rs1371498176
|
0.00004
|
|
NM_002582.4(PARN):c.327+10A>G
|
rs773687682
|
0.00004
|
|
NM_002691.4(POLD1):c.1504G>A (p.Asp502Asn)
|
rs777866589
|
0.00004
|
|
NM_002691.4(POLD1):c.2250+7G>A
|
rs775363857
|
0.00004
|
|
NM_002691.4(POLD1):c.257C>T (p.Ala86Val)
|
rs148040399
|
0.00004
|
|
NM_002691.4(POLD1):c.811G>A (p.Gly271Arg)
|
rs923485004
|
0.00004
|
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
|
NM_002894.3(RBBP8):c.1902T>C (p.Cys634=)
|
rs201620586
|
0.00004
|
|
NM_002894.3(RBBP8):c.2613T>G (p.Asp871Glu)
|
rs140270739
|
0.00004
|
|
NM_003000.3(SDHB):c.530G>A (p.Arg177His)
|
rs150437793
|
0.00004
|
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
|
NM_003051.3(SLC16A1):c.-283G>A
|
rs989974880
|
0.00004
|
|
NM_003051.4(SLC16A1):c.1236C>T (p.Leu412=)
|
rs375986619
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu)
|
rs746219091
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4491C>T (p.Tyr1497=)
|
rs755142737
|
0.00004
|
|
NM_003136.4(SRP54):c.298A>G (p.Lys100Glu)
|
rs750470973
|
0.00004
|
|
NM_003356.4(UCP3):c.386T>C (p.Met129Thr)
|
rs1047063799
|
0.00004
|
|
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr)
|
rs116082439
|
0.00004
|
|
NM_003383.5(VLDLR):c.583G>A (p.Ala195Thr)
|
rs201652132
|
0.00004
|
|
NM_003383.5(VLDLR):c.64A>T (p.Ser22Cys)
|
rs764757062
|
0.00004
|
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
0.00004
|
|
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met)
|
rs35087111
|
0.00004
|
|
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=)
|
rs567323882
|
0.00004
|
|
NM_003482.4(KMT2D):c.1296C>T (p.Ala432=)
|
rs547058856
|
0.00004
|
|
NM_003482.4(KMT2D):c.13560G>A (p.Pro4520=)
|
rs758268996
|
0.00004
|
|
NM_003482.4(KMT2D):c.16412+13G>A
|
rs587783701
|
0.00004
|
|
NM_003482.4(KMT2D):c.4182C>T (p.Leu1394=)
|
rs797045665
|
0.00004
|
|
NM_003482.4(KMT2D):c.5007C>T (p.Pro1669=)
|
rs200225974
|
0.00004
|
|
NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys)
|
rs747722455
|
0.00004
|
|
NM_003482.4(KMT2D):c.7498G>A (p.Ala2500Thr)
|
rs746638965
|
0.00004
|
|
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met)
|
rs760263014
|
0.00004
|
|
NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr)
|
rs752428122
|
0.00004
|
|
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu)
|
rs587784326
|
0.00004
|
|
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly)
|
rs754484224
|
0.00004
|
|
NM_003647.3(DGKE):c.117G>C (p.Trp39Cys)
|
rs201377251
|
0.00004
|
|
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)
|
rs587783644
|
0.00004
|
|
NM_004153.4(ORC1):c.400C>T (p.Arg134Trp)
|
rs587780413
|
0.00004
|
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
|
NM_004268.5(MED17):c.1449C>G (p.Gly483=)
|
rs61754525
|
0.00004
|
|
NM_004268.5(MED17):c.571C>T (p.Arg191Trp)
|
rs587780394
|
0.00004
|
|
NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser)
|
rs375165807
|
0.00004
|
|
NM_004360.5(CDH1):c.1501G>A (p.Val501Met)
|
rs368690400
|
0.00004
|
|
NM_004393.6(DAG1):c.2065C>T (p.Arg689Trp)
|
rs138933315
|
0.00004
|
|
NM_004493.3(HSD17B10):c.*9G>C
|
rs782410328
|
0.00004
|
|
NM_004522.3(KIF5C):c.2396A>G (p.His799Arg)
|
rs372503515
|
0.00004
|
|
NM_004523.4(KIF11):c.455C>T (p.Thr152Ile)
|
rs140534766
|
0.00004
|
|
NM_004525.3(LRP2):c.2485C>T (p.Arg829Trp)
|
rs368619363
|
0.00004
|
|
NM_004525.3(LRP2):c.2618A>G (p.Asn873Ser)
|
rs587780383
|
0.00004
|
|
NM_004525.3(LRP2):c.3295C>T (p.His1099Tyr)
|
rs146463817
|
0.00004
|
|
NM_004595.5(SMS):c.714C>T (p.Gly238=)
|
rs760174828
|
0.00004
|
|
NM_004629.2(FANCG):c.1521G>A (p.Ala507=)
|
rs373411028
|
0.00004
|
|
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)
|
rs546023787
|
0.00004
|
|
NM_004782.4(SNAP29):c.131A>G (p.Tyr44Cys)
|
rs780679643
|
0.00004
|
|
NM_004820.5(CYP7B1):c.850+18A>T
|
rs374380529
|
0.00004
|
|
NM_004933.3(CDH15):c.165C>T (p.Ser55=)
|
rs533141968
|
0.00004
|
|
NM_004933.3(CDH15):c.1855+9G>A
|
rs754091466
|
0.00004
|
|
NM_004933.3(CDH15):c.616G>A (p.Glu206Lys)
|
rs779397293
|
0.00004
|
|
NM_004991.4(MECOM):c.2771+4A>G
|
rs773749114
|
0.00004
|
|
NM_005045.4(RELN):c.4042G>A (p.Glu1348Lys)
|
rs773149531
|
0.00004
|
|
NM_005045.4(RELN):c.5599A>C (p.Arg1867=)
|
rs753376558
|
0.00004
|
|
NM_005068.3(SIM1):c.624G>A (p.Val208=)
|
rs753737612
|
0.00004
|
|
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)
|
rs730880434
|
0.00004
|
|
NM_005188.4(CBL):c.2073A>G (p.Gln691=)
|
rs140298671
|
0.00004
|
|
NM_005228.5(EGFR):c.1900G>A (p.Glu634Lys)
|
rs765068810
|
0.00004
|
|
NM_005236.3(ERCC4):c.906T>C (p.Asp302=)
|
rs148003381
|
0.00004
|
|
NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala)
|
rs796052460
|
0.00004
|
|
NM_005263.5(GFI1):c.252G>C (p.Ser84=)
|
rs140302204
|
0.00004
|
|
NM_005263.5(GFI1):c.662T>A (p.Leu221Gln)
|
rs370626442
|
0.00004
|
|
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)
|
rs782501125
|
0.00004
|
|
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)
|
rs782407440
|
0.00004
|
|
NM_005334.3(HCFC1):c.984C>T (p.Val328=)
|
rs782409511
|
0.00004
|
|
NM_005359.6(SMAD4):c.228A>G (p.Arg76=)
|
rs587780556
|
0.00004
|
|
NM_005373.3(MPL):c.983A>G (p.Tyr328Cys)
|
rs781482698
|
0.00004
|
|
NM_005445.4(SMC3):c.2268+4C>T
|
rs587784426
|
0.00004
|
|
NM_005445.4(SMC3):c.507C>T (p.Asp169=)
|
rs370909218
|
0.00004
|
|
NM_005491.5(MAMLD1):c.1320A>G (p.Gln440=)
|
rs151207889
|
0.00004
|
|
NM_005592.4(MUSK):c.79+2T>G
|
rs200783529
|
0.00004
|
|
NM_005886.3(KATNB1):c.1557C>T (p.Gly519=)
|
rs199774225
|
0.00004
|
|
NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn)
|
rs575778537
|
0.00004
|
|
NM_006009.4(TUBA1A):c.1248T>C (p.Gly416=)
|
rs3206694
|
0.00004
|
|
NM_006015.6(ARID1A):c.550C>T (p.Leu184=)
|
rs761025553
|
0.00004
|
|
NM_006030.4(CACNA2D2):c.1365C>T (p.Ile455=)
|
rs760989430
|
0.00004
|
|
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val)
|
rs368199588
|
0.00004
|
|
NM_006031.6(PCNT):c.1281C>T (p.His427=)
|
rs142413458
|
0.00004
|
|
NM_006031.6(PCNT):c.1457-5T>A
|
rs769237607
|
0.00004
|
|
NM_006031.6(PCNT):c.4371G>A (p.Ala1457=)
|
rs761736816
|
0.00004
|
|
NM_006031.6(PCNT):c.4423C>T (p.Arg1475Cys)
|
rs778468425
|
0.00004
|
|
NM_006031.6(PCNT):c.484A>G (p.Ser162Gly)
|
rs755909353
|
0.00004
|
|
NM_006031.6(PCNT):c.591C>G (p.Ile197Met)
|
rs559031201
|
0.00004
|
|
NM_006031.6(PCNT):c.6631C>T (p.Pro2211Ser)
|
rs775124083
|
0.00004
|
|
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val)
|
rs368569999
|
0.00004
|
|
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His)
|
rs574728262
|
0.00004
|
|
NM_006031.6(PCNT):c.9331C>T (p.Arg3111Cys)
|
rs1007600831
|
0.00004
|
|
NM_006059.4(LAMC3):c.3192G>T (p.Gln1064His)
|
rs373353612
|
0.00004
|
|
NM_006060.6(IKZF1):c.531C>A (p.Leu177=)
|
rs200442218
|
0.00004
|
|
NM_006060.6(IKZF1):c.754G>A (p.Asp252Asn)
|
rs762538092
|
0.00004
|
|
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter)
|
rs760377093
|
0.00004
|
|
NM_006231.4(POLE):c.4150-6C>T
|
rs756837862
|
0.00004
|
|
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr)
|
rs373468985
|
0.00004
|
|
NM_006231.4(POLE):c.5007C>T (p.Ser1669=)
|
rs146761597
|
0.00004
|
|
NM_006231.4(POLE):c.5174-6G>C
|
rs770466844
|
0.00004
|
|
NM_006231.4(POLE):c.6018C>T (p.Ala2006=)
|
rs111709550
|
0.00004
|
|
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val)
|
rs141947405
|
0.00004
|
|
NM_006279.5(ST3GAL3):c.516G>A (p.Lys172=)
|
rs754735171
|
0.00004
|
|
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met)
|
rs372307204
|
0.00004
|
|
NM_006361.6(HOXB13):c.602-7C>A
|
rs370167148
|
0.00004
|
|
NM_006420.3(ARFGEF2):c.2015G>A (p.Gly672Glu)
|
rs373933885
|
0.00004
|
|
NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=)
|
rs770578384
|
0.00004
|
|
NM_006420.3(ARFGEF2):c.4332G>A (p.Ala1444=)
|
rs201206379
|
0.00004
|
|
NM_006420.3(ARFGEF2):c.5024G>A (p.Arg1675His)
|
rs778607741
|
0.00004
|
|
NM_006420.3(ARFGEF2):c.586C>T (p.Arg196Cys)
|
rs373500218
|
0.00004
|
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
|
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser)
|
rs138139624
|
0.00004
|
|
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=)
|
rs780638574
|
0.00004
|
|
NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg)
|
rs769333887
|
0.00004
|
|
NM_006662.3(SRCAP):c.5303T>C (p.Leu1768Pro)
|
rs587784443
|
0.00004
|
|
NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala)
|
rs779992354
|
0.00004
|
|
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=)
|
rs555363112
|
0.00004
|
|
NM_006772.3(SYNGAP1):c.501C>T (p.Asp167=)
|
rs138286163
|
0.00004
|
|
NM_006947.4(SRP72):c.1448C>A (p.Thr483Asn)
|
rs768437750
|
0.00004
|
|
NM_006947.4(SRP72):c.494T>C (p.Val165Ala)
|
rs200520143
|
0.00004
|
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
0.00004
|
|
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe)
|
rs765799649
|
0.00004
|
|
NM_007254.4(PNKP):c.1126+9C>T
|
rs3739202
|
0.00004
|
|
NM_007254.4(PNKP):c.636+1G>T
|
rs1247055716
|
0.00004
|
|
NM_007259.5(VPS45):c.369+8T>A
|
rs201637627
|
0.00004
|
|
NM_007294.3(BRCA1):c.-166A>T
|
rs993065651
|
0.00004
|
|
NM_007294.4(BRCA1):c.*265G>A
|
rs1027194657
|
0.00004
|
|
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)
|
rs56272539
|
0.00004
|
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
|
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)
|
rs41293457
|
0.00004
|
|
NM_007294.4(BRCA1):c.81-11del
|
rs273902788
|
0.00004
|
|
NM_007327.4(GRIN1):c.2499C>T (p.Ile833=)
|
rs146086141
|
0.00004
|
|
NM_007347.5(AP4E1):c.2702C>T (p.Ser901Phe)
|
rs757562999
|
0.00004
|
|
NM_012156.2(EPB41L1):c.1661C>A (p.Ala554Asp)
|
rs778642222
|
0.00004
|
|
NM_012156.2(EPB41L1):c.1772C>T (p.Thr591Met)
|
rs375302378
|
0.00004
|
|
NM_012216.4(MID2):c.758G>A (p.Arg253His)
|
rs200061253
|
0.00004
|
|
NM_012233.3(RAB3GAP1):c.2394C>T (p.Leu798=)
|
rs550794953
|
0.00004
|
|
NM_012414.4(RAB3GAP2):c.3944C>T (p.Ala1315Val)
|
rs202192080
|
0.00004
|
|
NM_013339.4(ALG6):c.1120A>G (p.Thr374Ala)
|
rs368086400
|
0.00004
|
|
NM_013382.7(POMT2):c.1654-10C>T
|
rs754208063
|
0.00004
|
|
NM_014141.6(CNTNAP2):c.3716-6C>G
|
rs77025884
|
0.00004
|
|
NM_014159.7(SETD2):c.3890G>A (p.Arg1297His)
|
rs370953553
|
0.00004
|
|
NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn)
|
rs200089121
|
0.00004
|
|
NM_014423.4(AFF4):c.2817T>C (p.Ala939=)
|
rs140405448
|
0.00004
|
|
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs)
|
rs794726855
|
0.00004
|
|
NM_014467.3(SRPX2):c.542C>G (p.Pro181Arg)
|
rs769478434
|
0.00004
|
|
NM_014795.4(ZEB2):c.332-6C>T
|
rs730881186
|
0.00004
|
|
NM_014795.4(ZEB2):c.466C>T (p.Arg156Cys)
|
rs147021269
|
0.00004
|
|
NM_014915.3(ANKRD26):c.826C>T (p.Pro276Ser)
|
rs758179353
|
0.00004
|
|
NM_014953.5(DIS3):c.1552G>A (p.Ala518Thr)
|
rs201719231
|
0.00004
|
|
NM_015080.4(NRXN2):c.1522C>T (p.Arg508Cys)
|
rs200169230
|
0.00004
|
|
NM_015080.4(NRXN2):c.195G>C (p.Leu65=)
|
rs200025059
|
0.00004
|
|
NM_015080.4(NRXN2):c.3368C>T (p.Thr1123Ile)
|
rs187397245
|
0.00004
|
|
NM_015102.5(NPHP4):c.1973G>A (p.Arg658Gln)
|
rs767073232
|
0.00004
|
|
NM_015421.4(TMEM186):c.3+185A>G
|
rs777196669
|
0.00004
|
|
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)
|
rs756198077
|
0.00004
|
|
NM_015450.3(POT1):c.1442A>G (p.Glu481Gly)
|
rs548024862
|
0.00004
|
|
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly)
|
rs587784380
|
0.00004
|
|
NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu)
|
rs145133915
|
0.00004
|
|
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=)
|
rs374300895
|
0.00004
|
|
NM_015559.3(SETBP1):c.4046G>C (p.Ser1349Thr)
|
rs1178340807
|
0.00004
|
|
NM_015634.4(KIFBP):c.781A>G (p.Ile261Val)
|
rs749110699
|
0.00004
|
|
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys)
|
rs148710037
|
0.00004
|
|
NM_015681.6(B9D1):c.33C>T (p.Leu11=)
|
rs751480715
|
0.00004
|
|
NM_015922.3(NSDHL):c.1086C>T (p.Thr362=)
|
rs782463366
|
0.00004
|
|
NM_016219.5(MAN1B1):c.1363G>A (p.Val455Ile)
|
rs201323382
|
0.00004
|
|
NM_016222.4(DDX41):c.1622-3C>T
|
rs200471726
|
0.00004
|
|
NM_016277.5(RAB23):c.529A>C (p.Ile177Leu)
|
rs138217647
|
0.00004
|
|
NM_016302.4(CRBN):c.1274C>T (p.Thr425Met)
|
rs566932471
|
0.00004
|
|
NM_016343.4(CENPF):c.9007C>A (p.Arg3003=)
|
rs767547548
|
0.00004
|
|
NM_016373.4(WWOX):c.1146C>T (p.Cys382=)
|
rs780939546
|
0.00004
|
|
NM_016373.4(WWOX):c.114C>T (p.Thr38=)
|
rs372635270
|
0.00004
|
|
NM_016373.4(WWOX):c.605T>G (p.Val202Gly)
|
rs112636835
|
0.00004
|
|
NM_016734.3(PAX5):c.630C>T (p.Asn210=)
|
rs773198171
|
0.00004
|
|
NM_017654.4(SAMD9):c.1914G>A (p.Ser638=)
|
rs146106698
|
0.00004
|
|
NM_017654.4(SAMD9):c.1998G>A (p.Glu666=)
|
rs768512497
|
0.00004
|
|
NM_017654.4(SAMD9):c.242A>T (p.Asp81Val)
|
rs781518706
|
0.00004
|
|
NM_017654.4(SAMD9):c.2756C>T (p.Ser919Phe)
|
rs748338739
|
0.00004
|
|
NM_017654.4(SAMD9):c.3257A>C (p.Gln1086Pro)
|
rs772420263
|
0.00004
|
|
NM_017654.4(SAMD9):c.374C>T (p.Pro125Leu)
|
rs144391563
|
0.00004
|
|
NM_017654.4(SAMD9):c.4166T>C (p.Ile1389Thr)
|
rs369780909
|
0.00004
|
|
NM_017654.4(SAMD9):c.4398G>A (p.Gly1466=)
|
rs143031996
|
0.00004
|
|
NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter)
|
rs200178876
|
0.00004
|
|
NM_017668.3(NDE1):c.84-5T>C
|
rs587783872
|
0.00004
|
|
NM_017668.3(NDE1):c.956C>T (p.Thr319Met)
|
rs141262029
|
0.00004
|
|
NM_017721.5(CC2D1A):c.2115A>C (p.Thr705=)
|
rs772349420
|
0.00004
|
|
NM_017757.3(ZNF407):c.*5C>T
|
rs1022719683
|
0.00004
|
|
NM_017757.3(ZNF407):c.1600G>A (p.Gly534Arg)
|
rs781554422
|
0.00004
|
|
NM_017757.3(ZNF407):c.3153C>T (p.Cys1051=)
|
rs376436900
|
0.00004
|
|
NM_017757.3(ZNF407):c.4866C>T (p.Thr1622=)
|
rs752545983
|
0.00004
|
|
NM_017757.3(ZNF407):c.6283G>A (p.Gly2095Ser)
|
rs112370735
|
0.00004
|
|
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter)
|
rs764720544
|
0.00004
|
|
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser)
|
rs587783439
|
0.00004
|
|
NM_017780.4(CHD7):c.7332A>G (p.Leu2444=)
|
rs764110898
|
0.00004
|
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00004
|
|
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met)
|
rs761409446
|
0.00004
|
|
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)
|
rs587780316
|
0.00004
|
|
NM_018026.4(PACS1):c.135G>T (p.Pro45=)
|
rs778693310
|
0.00004
|
|
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile)
|
rs371154063
|
0.00004
|
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
|
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)
|
rs139801716
|
0.00004
|
|
NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln)
|
rs77682973
|
0.00004
|
|
NM_018136.5(ASPM):c.10331+5G>A
|
rs368843607
|
0.00004
|
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
|
NM_018136.5(ASPM):c.441+10T>G
|
rs587783242
|
0.00004
|
|
NM_018136.5(ASPM):c.5923A>G (p.Ile1975Val)
|
rs548744621
|
0.00004
|
|
NM_018136.5(ASPM):c.6795C>T (p.Ala2265=)
|
rs750759285
|
0.00004
|
|
NM_018136.5(ASPM):c.7074A>G (p.Lys2358=)
|
rs587783262
|
0.00004
|
|
NM_018136.5(ASPM):c.932G>C (p.Ser311Thr)
|
rs202012380
|
0.00004
|
|
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter)
|
rs587783295
|
0.00004
|
|
NM_018249.6(CDK5RAP2):c.4393A>G (p.Met1465Val)
|
rs201864352
|
0.00004
|
|
NM_018249.6(CDK5RAP2):c.5105C>T (p.Ser1702Leu)
|
rs777175354
|
0.00004
|
|
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs)
|
rs587783393
|
0.00004
|
|
NM_018341.3(ERMARD):c.1419T>C (p.Asn473=)
|
rs570581453
|
0.00004
|
|
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp)
|
rs387907067
|
0.00004
|
|
NM_018417.6(ADCY10):c.1742G>A (p.Arg581Gln)
|
rs377634034
|
0.00004
|
|
NM_018451.5(CENPJ):c.216T>G (p.Asp72Glu)
|
rs34395671
|
0.00004
|
|
NM_018451.5(CENPJ):c.2944A>G (p.Thr982Ala)
|
rs766258888
|
0.00004
|
|
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)
|
rs144495588
|
0.00004
|
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
|
NM_020461.4(TUBGCP6):c.1304G>A (p.Gly435Asp)
|
rs368378157
|
0.00004
|
|
NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter)
|
rs192919234
|
0.00004
|
|
NM_020547.3(AMHR2):c.176G>A (p.Arg59His)
|
rs371910684
|
0.00004
|
|
NM_020921.4(NIN):c.1063A>G (p.Asn355Asp)
|
rs372422633
|
0.00004
|
|
NM_020937.4(FANCM):c.1752G>A (p.Arg584=)
|
rs373696744
|
0.00004
|
|
NM_020975.6(RET):c.1118C>T (p.Ala373Val)
|
rs546866208
|
0.00004
|
|
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)
|
rs377767406
|
0.00004
|
|
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)
|
rs377767417
|
0.00004
|
|
NM_020987.5(ANK3):c.6072C>T (p.Ser2024=)
|
rs532643979
|
0.00004
|
|
NM_020987.5(ANK3):c.6073G>A (p.Glu2025Lys)
|
rs368843645
|
0.00004
|
|
NM_020987.5(ANK3):c.7672C>T (p.Arg2558Cys)
|
rs375600068
|
0.00004
|
|
NM_021120.4(DLG3):c.126T>A (p.Gly42=)
|
rs982660834
|
0.00004
|
|
NM_021871.4(FGA):c.1373G>A (p.Arg458His)
|
rs780354544
|
0.00004
|
|
NM_021871.4(FGA):c.923G>A (p.Arg308Gln)
|
rs760992799
|
0.00004
|
|
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
|
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys)
|
rs754914337
|
0.00004
|
|
NM_021956.5(GRIK2):c.1265C>T (p.Ala422Val)
|
rs751662930
|
0.00004
|
|
NM_021956.5(GRIK2):c.2238C>T (p.Thr746=)
|
rs770732436
|
0.00004
|
|
NM_022081.6(HPS4):c.1897G>A (p.Val633Ile)
|
rs202222123
|
0.00004
|
|
NM_022095.4(ZNF335):c.2063G>A (p.Arg688Gln)
|
rs760410435
|
0.00004
|
|
NM_022095.4(ZNF335):c.2253+3A>G
|
rs200995811
|
0.00004
|
|
NM_022095.4(ZNF335):c.3444C>T (p.Thr1148=)
|
rs759216909
|
0.00004
|
|
NM_022095.4(ZNF335):c.593A>G (p.Asp198Gly)
|
rs770813545
|
0.00004
|
|
NM_022436.3(ABCG5):c.94G>A (p.Ala32Thr)
|
rs758017120
|
0.00004
|
|
NM_022455.5(NSD1):c.7403G>A (p.Arg2468Gln)
|
rs587784217
|
0.00004
|
|
NM_022552.5(DNMT3A):c.2598-3C>T
|
rs371855601
|
0.00004
|
|
NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=)
|
rs537647207
|
0.00004
|
|
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=)
|
rs56273573
|
0.00004
|
|
NM_024101.7(MLPH):c.1625C>T (p.Ala542Val)
|
rs755733100
|
0.00004
|
|
NM_024596.5(MCPH1):c.1113C>T (p.Cys371=)
|
rs587783732
|
0.00004
|
|
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=)
|
rs201026769
|
0.00004
|
|
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer)
|
rs587783735
|
0.00004
|
|
NM_024649.5(BBS1):c.175C>G (p.Leu59Val)
|
rs113822005
|
0.00004
|
|
NM_024649.5(BBS1):c.485C>T (p.Thr162Met)
|
rs148576114
|
0.00004
|
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
|
NM_024757.5(EHMT1):c.2712+9G>A
|
rs766635512
|
0.00004
|
|
NM_024782.3(NHEJ1):c.299T>C (p.Val100Ala)
|
rs201186145
|
0.00004
|
|
NM_024884.3(L2HGDH):c.633C>T (p.Gly211=)
|
rs752538208
|
0.00004
|
|
NM_024884.3(L2HGDH):c.738+5A>C
|
rs749417245
|
0.00004
|
|
NM_024989.4(PGAP1):c.1691T>C (p.Leu564Ser)
|
rs572992003
|
0.00004
|
|
NM_024989.4(PGAP1):c.2408G>A (p.Arg803His)
|
rs745554603
|
0.00004
|
|
NM_025009.5(CEP135):c.2471A>G (p.Gln824Arg)
|
rs148279836
|
0.00004
|
|
NM_025099.6(CTC1):c.258G>A (p.Ser86=)
|
rs369789111
|
0.00004
|
|
NM_025099.6(CTC1):c.3222-4A>G
|
rs562479062
|
0.00004
|
|
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)
|
rs780570235
|
0.00004
|
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
|
NM_030632.3(ASXL3):c.1214C>T (p.Pro405Leu)
|
rs762217973
|
0.00004
|
|
NM_030632.3(ASXL3):c.1654C>T (p.His552Tyr)
|
rs200334892
|
0.00004
|
|
NM_030632.3(ASXL3):c.2022A>G (p.Ala674=)
|
rs370050131
|
0.00004
|
|
NM_030632.3(ASXL3):c.4538C>G (p.Pro1513Arg)
|
rs749918007
|
0.00004
|
|
NM_030632.3(ASXL3):c.4629G>A (p.Ser1543=)
|
rs746363752
|
0.00004
|
|
NM_030665.4(RAI1):c.187G>A (p.Ala63Thr)
|
rs758424396
|
0.00004
|
|
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp)
|
rs758990336
|
0.00004
|
|
NM_030665.4(RAI1):c.3884C>T (p.Pro1295Leu)
|
rs376809177
|
0.00004
|
|
NM_030665.4(RAI1):c.5204C>T (p.Pro1735Leu)
|
rs376429075
|
0.00004
|
|
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile)
|
rs142646842
|
0.00004
|
|
NM_030761.5(WNT4):c.854G>A (p.Arg285His)
|
rs142042206
|
0.00004
|
|
NM_030928.4(CDT1):c.1552G>A (p.Asp518Asn)
|
rs751315293
|
0.00004
|
|
NM_030928.4(CDT1):c.172G>C (p.Gly58Arg)
|
rs767926757
|
0.00004
|
|
NM_031407.7(HUWE1):c.1470A>G (p.Glu490=)
|
rs145143264
|
0.00004
|
|
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu)
|
rs748616469
|
0.00004
|
|
NM_032415.7(CARD11):c.583G>C (p.Val195Leu)
|
rs747351557
|
0.00004
|
|
NM_032415.7(CARD11):c.704G>A (p.Arg235Gln)
|
rs148083162
|
0.00004
|
|
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn)
|
rs752899329
|
0.00004
|
|
NM_032444.4(SLX4):c.3782C>T (p.Pro1261Leu)
|
rs374056556
|
0.00004
|
|
NM_032638.5(GATA2):c.1017+485A>T
|
rs745812924
|
0.00004
|
|
NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile)
|
rs770949428
|
0.00004
|
|
NM_032638.5(GATA2):c.358C>T (p.Pro120Ser)
|
rs144794596
|
0.00004
|
|
NM_032638.5(GATA2):c.612A>G (p.Arg204=)
|
rs758507997
|
0.00004
|
|
NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln)
|
rs199612856
|
0.00004
|
|
NM_032806.6(POMGNT2):c.453C>T (p.Asp151=)
|
rs547735064
|
0.00004
|
|
NM_032806.6(POMGNT2):c.896T>G (p.Leu299Arg)
|
rs942782071
|
0.00004
|
|
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln)
|
rs535121774
|
0.00004
|
|
NM_033028.5(BBS4):c.1311C>G (p.Thr437=)
|
rs945847885
|
0.00004
|
|
NM_130839.5(UBE3A):c.1169A>G (p.Asn390Ser)
|
rs147446244
|
0.00004
|
|
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=)
|
rs188565385
|
0.00004
|
|
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)
|
rs587783913
|
0.00004
|
|
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys)
|
rs587784058
|
0.00004
|
|
NM_133444.3(ZNF526):c.796G>A (p.Glu266Lys)
|
rs377045934
|
0.00004
|
|
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln)
|
rs763697782
|
0.00004
|
|
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)
|
rs775224457
|
0.00004
|
|
NM_138501.6(TECR):c.177G>A (p.Leu59=)
|
rs762102843
|
0.00004
|
|
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg)
|
rs146649894
|
0.00004
|
|
NM_139058.3(ARX):c.1462A>G (p.Met488Val)
|
rs767404024
|
0.00004
|
|
NM_139058.3(ARX):c.855G>A (p.Glu285=)
|
rs139301257
|
0.00004
|
|
NM_139343.3(BIN1):c.1461C>T (p.Ser487=)
|
rs34647988
|
0.00004
|
|
NM_144508.5(KNL1):c.6796C>G (p.Pro2266Ala)
|
rs536166099
|
0.00004
|
|
NM_145207.3(AFG2A):c.1411A>G (p.Lys471Glu)
|
rs371066513
|
0.00004
|
|
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys)
|
rs370172252
|
0.00004
|
|
NM_152564.5(VPS13B):c.1425+9G>A
|
rs551460373
|
0.00004
|
|
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala)
|
rs398124329
|
0.00004
|
|
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly)
|
rs112858205
|
0.00004
|
|
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His)
|
rs755227174
|
0.00004
|
|
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu)
|
rs369932118
|
0.00004
|
|
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln)
|
rs544366805
|
0.00004
|
|
NM_152618.3(BBS12):c.1995T>C (p.Val665=)
|
rs771980986
|
0.00004
|
|
NM_152703.5(SAMD9L):c.1522A>G (p.Thr508Ala)
|
rs774003032
|
0.00004
|
|
NM_152703.5(SAMD9L):c.2065C>T (p.Arg689Ter)
|
rs369074740
|
0.00004
|
|
NM_152703.5(SAMD9L):c.3320G>A (p.Arg1107His)
|
rs369116471
|
0.00004
|
|
NM_152703.5(SAMD9L):c.3687G>A (p.Val1229=)
|
rs774463519
|
0.00004
|
|
NM_152743.4(BRAT1):c.491C>T (p.Ala164Val)
|
rs771600489
|
0.00004
|
|
NM_152783.5(D2HGDH):c.1122C>T (p.Thr374=)
|
rs556507268
|
0.00004
|
|
NM_152783.5(D2HGDH):c.1267G>A (p.Gly423Ser)
|
rs372062694
|
0.00004
|
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
|
NM_170707.4(LMNA):c.1299C>T (p.His433=)
|
rs61217436
|
0.00004
|
|
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys)
|
rs779042065
|
0.00004
|
|
NM_173630.4(RTTN):c.905A>C (p.Gln302Pro)
|
rs201044643
|
0.00004
|
|
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)
|
rs747928745
|
0.00004
|
|
NM_176824.3(BBS7):c.1314C>T (p.Asp438=)
|
rs774070535
|
0.00004
|
|
NM_181507.2(HPS5):c.2370G>A (p.Ala790=)
|
rs757606601
|
0.00004
|
|
NM_181523.3(PIK3R1):c.552C>T (p.Asp184=)
|
rs374140006
|
0.00004
|
|
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys)
|
rs387906847
|
0.00004
|
|
NM_182914.3(SYNE2):c.19726T>C (p.Leu6576=)
|
rs772308280
|
0.00004
|
|
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)
|
rs139075013
|
0.00004
|
|
NM_198252.3(GSN):c.-9-2077G>A
|
rs935992317
|
0.00004
|
|
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)
|
rs199422297
|
0.00004
|
|
NM_198253.3(TERT):c.2255A>G (p.His752Arg)
|
rs375699185
|
0.00004
|
|
NM_198253.3(TERT):c.2263G>A (p.Val755Ile)
|
rs576633619
|
0.00004
|
|
NM_198253.3(TERT):c.2313G>A (p.Pro771=)
|
rs199770141
|
0.00004
|
|
NM_198253.3(TERT):c.2946T>C (p.Cys982=)
|
rs201689770
|
0.00004
|
|
NM_198253.3(TERT):c.3117G>A (p.Thr1039=)
|
rs773595628
|
0.00004
|
|
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)
|
rs373400596
|
0.00004
|
|
NM_198428.3(BBS9):c.1322C>T (p.Thr441Met)
|
rs140675013
|
0.00004
|
|
NM_198525.3(KIF7):c.1159C>A (p.Arg387Ser)
|
rs587780374
|
0.00004
|
|
NM_198525.3(KIF7):c.328+2T>G
|
rs781752990
|
0.00004
|
|
NM_198576.4(AGRN):c.3752-6C>T
|
rs779516004
|
0.00004
|
|
NM_198994.3(TGM6):c.691C>T (p.Arg231Ter)
|
rs201338900
|
0.00004
|
|
NM_199242.3(UNC13D):c.1279C>T (p.Arg427Trp)
|
rs779947557
|
0.00004
|
|
NM_199242.3(UNC13D):c.2111A>G (p.Asp704Gly)
|
rs762112010
|
0.00004
|
|
NM_199242.3(UNC13D):c.2917A>G (p.Lys973Glu)
|
rs373478612
|
0.00004
|
|
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=)
|
rs559736151
|
0.00004
|
|
NM_201525.4(ADGRG1):c.761G>A (p.Arg254Gln)
|
rs145001300
|
0.00004
|
|
NM_203447.4(DOCK8):c.5820T>C (p.Phe1940=)
|
rs768939248
|
0.00004
|
|
NM_203447.4(DOCK8):c.898T>G (p.Ser300Ala)
|
rs145978391
|
0.00004
|
|
NM_206937.2(LIG4):c.1607G>A (p.Ser536Asn)
|
rs552242241
|
0.00004
|
|
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu)
|
rs141441003
|
0.00004
|
|
NR_001566.1(TERC):n.-64G>C
|
rs751991689
|
0.00004
|
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
|
NM_000038.6(APC):c.848G>A (p.Arg283Gln)
|
rs149154604
|
0.00003
|
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
|
NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser)
|
rs587781865
|
0.00003
|
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
|
NM_000051.4(ATM):c.8964C>T (p.Asp2988=)
|
rs969795398
|
0.00003
|
|
NM_000053.4(ATP7B):c.2826C>T (p.Ile942=)
|
rs758712064
|
0.00003
|
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
|
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg)
|
rs762267785
|
0.00003
|
|
NM_000057.4(BLM):c.3921C>T (p.Pro1307=)
|
rs149286215
|
0.00003
|
|
NM_000059.4(BRCA2):c.316+12A>G
|
rs186419778
|
0.00003
|
|
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=)
|
rs4986856
|
0.00003
|
|
NM_000059.4(BRCA2):c.5566C>T (p.His1856Tyr)
|
rs755791142
|
0.00003
|
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
rs80358833
|
0.00003
|
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
|
NM_000059.4(BRCA2):c.6444T>C (p.Ser2148=)
|
rs771131099
|
0.00003
|
|
NM_000059.4(BRCA2):c.8487+133C>T
|
rs797045413
|
0.00003
|
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
rs80359220
|
0.00003
|
|
NM_000064.4(C3):c.4317C>T (p.Ser1439=)
|
rs779838912
|
0.00003
|
|
NM_000075.4(CDK4):c.84T>C (p.Ser28=)
|
rs763203404
|
0.00003
|
|
NM_000081.4(LYST):c.9992G>A (p.Arg3331His)
|
rs771978663
|
0.00003
|
|
NM_000096.4(CP):c.828T>C (p.Cys276=)
|
rs781181406
|
0.00003
|
|
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)
|
rs778865255
|
0.00003
|
|
NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp)
|
rs374490261
|
0.00003
|
|
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp)
|
rs150290184
|
0.00003
|
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
|
NM_000135.4(FANCA):c.2308C>T (p.Arg770Cys)
|
rs1354855145
|
0.00003
|
|
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln)
|
rs750421982
|
0.00003
|
|
NM_000135.4(FANCA):c.301C>G (p.Gln101Glu)
|
rs140412064
|
0.00003
|
|
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)
|
rs142379991
|
0.00003
|
|
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)
|
rs768851109
|
0.00003
|
|
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=)
|
rs780031277
|
0.00003
|
|
NM_000135.4(FANCA):c.522+9G>C
|
rs113051956
|
0.00003
|
|
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)
|
rs587778323
|
0.00003
|
|
NM_000135.4(FANCA):c.596+12A>G
|
rs377151927
|
0.00003
|
|
NM_000135.4(FANCA):c.827-156G>A
|
rs797045571
|
0.00003
|
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
|
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln)
|
rs730881729
|
0.00003
|
|
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)
|
rs765990832
|
0.00003
|
|
NM_000162.5(GCK):c.-135G>A
|
rs746492953
|
0.00003
|
|
NM_000162.5(GCK):c.106C>T (p.Arg36Trp)
|
rs762263694
|
0.00003
|
|
NM_000168.6(GLI3):c.507G>A (p.Pro169=)
|
rs759525362
|
0.00003
|
|
NM_000174.5(GP9):c.461T>C (p.Leu154Pro)
|
rs758953076
|
0.00003
|
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
|
NM_000179.3(MSH6):c.1120_1122del (p.Lys374del)
|
rs587781660
|
0.00003
|
|
NM_000182.5(HADHA):c.828A>G (p.Pro276=)
|
rs765819381
|
0.00003
|
|
NM_000208.4(INSR):c.386A>G (p.Lys129Arg)
|
rs1310336610
|
0.00003
|
|
NM_000209.4(PDX1):c.820G>T (p.Val274Phe)
|
rs930365498
|
0.00003
|
|
NM_000212.3(ITGB3):c.1297C>G (p.Pro433Ala)
|
rs121918448
|
0.00003
|
|
NM_000212.3(ITGB3):c.1985G>A (p.Arg662His)
|
rs369443204
|
0.00003
|
|
NM_000222.3(KIT):c.2043T>G (p.Phe681Leu)
|
rs878853763
|
0.00003
|
|
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)
|
rs550914672
|
0.00003
|
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
|
NM_000251.3(MSH2):c.2458+8C>G
|
rs189025757
|
0.00003
|
|
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)
|
rs587781795
|
0.00003
|
|
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)
|
rs767747378
|
0.00003
|
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
|
NM_000257.4(MYH7):c.5409C>T (p.Ile1803=)
|
rs779713933
|
0.00003
|
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
|
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)
|
rs371099243
|
0.00003
|
|
NM_000314.8(PTEN):c.855A>G (p.Glu285=)
|
rs751888926
|
0.00003
|
|
NM_000320.3(QDPR):c.545+1G>A
|
rs761619802
|
0.00003
|
|
NM_000330.4(RS1):c.184+3194A>G
|
rs587783162
|
0.00003
|
|
NM_000352.6(ABCC8):c.1332+9T>C
|
rs775059899
|
0.00003
|
|
NM_000352.6(ABCC8):c.1513G>A (p.Gly505Ser)
|
rs200977997
|
0.00003
|
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
|
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)
|
rs766068851
|
0.00003
|
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
|
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)
|
rs61753256
|
0.00003
|
|
NM_000384.3(APOB):c.10238del (p.Thr3413fs)
|
rs756209187
|
0.00003
|
|
NM_000388.4(CASR):c.1668G>A (p.Glu556=)
|
rs186279271
|
0.00003
|
|
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)
|
rs375640462
|
0.00003
|
|
NM_000426.4(LAMA2):c.5382A>G (p.Thr1794=)
|
rs565429072
|
0.00003
|
|
NM_000426.4(LAMA2):c.5688C>T (p.His1896=)
|
rs573779258
|
0.00003
|
|
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met)
|
rs200462856
|
0.00003
|
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
|
NM_000478.6(ALPL):c.757G>A (p.Val253Ile)
|
rs151270365
|
0.00003
|
|
NM_000479.5(AMH):c.478G>C (p.Glu160Gln)
|
rs756662915
|
0.00003
|
|
NM_000497.4(CYP11B1):c.395+6C>T
|
rs553707049
|
0.00003
|
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
|
NM_000535.7(PMS2):c.1041G>A (p.Glu347=)
|
rs150515238
|
0.00003
|
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
|
NM_000540.3(RYR1):c.1140G>A (p.Glu380=)
|
rs35189056
|
0.00003
|
|
NM_000545.8(HNF1A):c.900C>T (p.Pro300=)
|
rs762555237
|
0.00003
|
|
NM_000548.5(TSC2):c.1258-5G>T
|
rs925954967
|
0.00003
|
|
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)
|
rs759004251
|
0.00003
|
|
NM_000552.5(VWF):c.3191C>A (p.Thr1064Asn)
|
rs143024162
|
0.00003
|
|
NM_000552.5(VWF):c.3379+10G>A
|
rs377317762
|
0.00003
|
|
NM_000553.6(WRN):c.2371T>G (p.Cys791Gly)
|
rs200169079
|
0.00003
|
|
NM_000702.4(ATP1A2):c.2520G>A (p.Lys840=)
|
rs587780283
|
0.00003
|
|
NM_000760.4(CSF3R):c.2069C>T (p.Thr690Met)
|
rs764345289
|
0.00003
|
|
NM_000760.4(CSF3R):c.826G>A (p.Glu276Lys)
|
rs201037400
|
0.00003
|
|
NM_000834.5(GRIN2B):c.4077C>T (p.Ala1359=)
|
rs375217280
|
0.00003
|
|
NM_000834.5(GRIN2B):c.834C>A (p.Ile278=)
|
rs199835162
|
0.00003
|
|
NM_001005373.4(LRSAM1):c.1913-1G>A
|
rs756880678
|
0.00003
|
|
NM_001008270.3(PRSS37):c.643G>A (p.Val215Ile)
|
rs745313899
|
0.00003
|
|
NM_001008537.3(NEXMIF):c.3637G>A (p.Gly1213Ser)
|
rs757442837
|
0.00003
|
|
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys)
|
rs780116069
|
0.00003
|
|
NM_001018113.3(FANCB):c.510T>G (p.Ile170Met)
|
rs775216604
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser)
|
rs758718558
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3523A>G (p.Ser1175Gly)
|
rs1267974483
|
0.00003
|
|
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val)
|
rs770985541
|
0.00003
|
|
NM_001022.4(RPS19):c.1-7C>T
|
rs782801643
|
0.00003
|
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2563-4C>A
|
rs561375550
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=)
|
rs529842407
|
0.00003
|
|
NM_001040616.3(LINS1):c.1908C>T (p.Asp636=)
|
rs753046177
|
0.00003
|
|
NM_001040616.3(LINS1):c.569G>T (p.Cys190Phe)
|
rs779712690
|
0.00003
|
|
NM_001042413.2(GLIS3):c.1263C>T (p.Asp421=)
|
rs755713904
|
0.00003
|
|
NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser)
|
rs149095062
|
0.00003
|
|
NM_001042492.3(NF1):c.*4T>C
|
rs201044568
|
0.00003
|
|
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)
|
rs765043916
|
0.00003
|
|
NM_001042492.3(NF1):c.3315-8T>C
|
rs764783865
|
0.00003
|
|
NM_001048166.1(STIL):c.2855G>A (p.Ser952Asn)
|
rs35447382
|
0.00003
|
|
NM_001048166.1(STIL):c.3754A>G (p.Ile1252Val)
|
rs142210835
|
0.00003
|
|
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=)
|
rs587780752
|
0.00003
|
|
NM_001059.3(TACR3):c.892G>A (p.Val298Ile)
|
rs376656496
|
0.00003
|
|
NM_001069.3(TUBB2A):c.278-10C>T
|
rs776027116
|
0.00003
|
|
NM_001070.5(TUBG1):c.1074G>A (p.Val358=)
|
rs748779810
|
0.00003
|
|
NM_001077418.3(TMEM231):c.438+1G>A
|
rs1415483600
|
0.00003
|
|
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=)
|
rs751833365
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.355-4G>C
|
rs775932045
|
0.00003
|
|
NM_001080449.3(DNA2):c.1102C>T (p.Arg368Cys)
|
rs555751651
|
0.00003
|
|
NM_001082486.2(ACD):c.602C>T (p.Ala201Val)
|
rs777707916
|
0.00003
|
|
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser)
|
rs1300291520
|
0.00003
|
|
NM_001083961.2(WDR62):c.2566C>T (p.Arg856Cys)
|
rs370558837
|
0.00003
|
|
NM_001083961.2(WDR62):c.3335+3A>G
|
rs587784554
|
0.00003
|
|
NM_001083961.2(WDR62):c.3469G>A (p.Ala1157Thr)
|
rs144347678
|
0.00003
|
|
NM_001083961.2(WDR62):c.3573C>T (p.Asp1191=)
|
rs1054040
|
0.00003
|
|
NM_001083961.2(WDR62):c.3611G>T (p.Gly1204Val)
|
rs587784559
|
0.00003
|
|
NM_001083962.2(TCF4):c.1113G>A (p.Ser371=)
|
rs148308964
|
0.00003
|
|
NM_001099274.3(TINF2):c.912G>A (p.Glu304=)
|
rs776136324
|
0.00003
|
|
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln)
|
rs781915319
|
0.00003
|
|
NM_001110556.2(FLNA):c.2538C>T (p.Tyr846=)
|
rs782571710
|
0.00003
|
|
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=)
|
rs188212919
|
0.00003
|
|
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)
|
rs797045579
|
0.00003
|
|
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp)
|
rs782563345
|
0.00003
|
|
NM_001110556.2(FLNA):c.6846G>A (p.Glu2282=)
|
rs781972193
|
0.00003
|
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
|
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser)
|
rs797045691
|
0.00003
|
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
|
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val)
|
rs375101073
|
0.00003
|
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
|
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)
|
rs267608440
|
0.00003
|
|
NM_001110792.2(MECP2):c.852G>A (p.Pro284=)
|
rs587783746
|
0.00003
|
|
NM_001111077.2(EZR):c.1426C>G (p.Pro476Ala)
|
rs778674522
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.1849C>T (p.Arg617Cys)
|
rs1556863213
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=)
|
rs797045629
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.4288C>A (p.Pro1430Thr)
|
rs1232612010
|
0.00003
|
|
NM_001113378.2(FANCI):c.1537A>G (p.Met513Val)
|
rs148780626
|
0.00003
|
|
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=)
|
rs768234660
|
0.00003
|
|
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His)
|
rs777483611
|
0.00003
|
|
NM_001113378.2(FANCI):c.326C>G (p.Ala109Gly)
|
rs772968604
|
0.00003
|
|
NM_001123385.2(BCOR):c.4053C>T (p.Thr1351=)
|
rs781252900
|
0.00003
|
|
NM_001123385.2(BCOR):c.4902C>T (p.Ser1634=)
|
rs747409134
|
0.00003
|
|
NM_001123385.2(BCOR):c.696G>A (p.Pro232=)
|
rs752884103
|
0.00003
|
|
NM_001123385.2(BCOR):c.874G>T (p.Gly292Cys)
|
rs774040250
|
0.00003
|
|
NM_001126049.2(KLLN):c.-803T>A
|
rs587782616
|
0.00003
|
|
NM_001127208.3(TET2):c.4965G>A (p.Pro1655=)
|
rs755125847
|
0.00003
|
|
NM_001127208.3(TET2):c.5413A>T (p.Asn1805Tyr)
|
rs970128585
|
0.00003
|
|
NM_001127208.3(TET2):c.5484G>A (p.Gln1828=)
|
rs752744962
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1348T>C (p.Ser450Pro)
|
rs1308599413
|
0.00003
|
|
NM_001128126.3(AP4S1):c.124C>A (p.Arg42=)
|
rs387906970
|
0.00003
|
|
NM_001128840.3(CACNA1D):c.1463G>A (p.Cys488Tyr)
|
rs375512160
|
0.00003
|
|
NM_001130438.3(SPTAN1):c.3156-10C>T
|
rs745910160
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp)
|
rs75761674
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.3624G>A (p.Arg1208=)
|
rs587780350
|
0.00003
|
|
NM_001143992.2(WRAP53):c.560A>C (p.Asn187Thr)
|
rs35762939
|
0.00003
|
|
NM_001145358.2(SIN3A):c.2852-6C>T
|
rs760515812
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.1078C>T (p.Arg360Trp)
|
rs374392590
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.1357C>T (p.His453Tyr)
|
rs534194766
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.1385G>A (p.Arg462His)
|
rs746266971
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.1420A>G (p.Met474Val)
|
rs752614138
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.1768+7C>T
|
rs587780485
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.3278C>T (p.Ala1093Val)
|
rs750167029
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=)
|
rs2229008
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.2367C>A (p.Asp789Glu)
|
rs587780363
|
0.00003
|
|
NM_001164508.2(NEB):c.17024G>T (p.Arg5675Leu)
|
rs373850451
|
0.00003
|
|
NM_001164508.2(NEB):c.340G>A (p.Ala114Thr)
|
rs779928749
|
0.00003
|
|
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=)
|
rs375953445
|
0.00003
|
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.1489+4C>T
|
rs775065938
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.998C>T (p.Ala333Val)
|
rs144625212
|
0.00003
|
|
NM_001184.4(ATR):c.2503T>C (p.Leu835=)
|
rs377134163
|
0.00003
|
|
NM_001184.4(ATR):c.5305G>C (p.Glu1769Gln)
|
rs376811787
|
0.00003
|
|
NM_001184.4(ATR):c.7725G>A (p.Ala2575=)
|
rs587783340
|
0.00003
|
|
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=)
|
rs587784295
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=)
|
rs556959164
|
0.00003
|
|
NM_001194998.2(CEP152):c.1116G>C (p.Glu372Asp)
|
rs369383335
|
0.00003
|
|
NM_001194998.2(CEP152):c.2090A>G (p.His697Arg)
|
rs774173743
|
0.00003
|
|
NM_001194998.2(CEP152):c.2985G>T (p.Ala995=)
|
rs377506426
|
0.00003
|
|
NM_001194998.2(CEP152):c.3990-13G>T
|
rs587783424
|
0.00003
|
|
NM_001194998.2(CEP152):c.4525A>G (p.Arg1509Gly)
|
rs587783425
|
0.00003
|
|
NM_001194998.2(CEP152):c.4702C>A (p.Leu1568Ile)
|
rs777337799
|
0.00003
|
|
NM_001194998.2(CEP152):c.4900C>T (p.Arg1634Cys)
|
rs587783427
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.731C>T (p.Ala244Val)
|
rs375873110
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln)
|
rs779398267
|
0.00003
|
|
NM_001199397.3(NEK1):c.2815A>G (p.Lys939Glu)
|
rs370930011
|
0.00003
|
|
NM_001205254.2(OCLN):c.358T>C (p.Tyr120His)
|
rs138515133
|
0.00003
|
|
NM_001242.5(CD27):c.721G>A (p.Glu241Lys)
|
rs759504816
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=)
|
rs747267404
|
0.00003
|
|
NM_001247997.2(CLIP1):c.3828A>G (p.Leu1276=)
|
rs771499354
|
0.00003
|
|
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)
|
rs763730264
|
0.00003
|
|
NM_001253852.3(AP4B1):c.1082C>T (p.Ala361Val)
|
rs143389123
|
0.00003
|
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
0.00003
|
|
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu)
|
rs397517792
|
0.00003
|
|
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr)
|
rs761362832
|
0.00003
|
|
NM_001271.4(CHD2):c.1773A>G (p.Ala591=)
|
rs370425217
|
0.00003
|
|
NM_001271938.2(MEGF8):c.326C>T (p.Pro109Leu)
|
rs768036287
|
0.00003
|
|
NM_001282531.3(ADNP):c.2849A>G (p.His950Arg)
|
rs1282824691
|
0.00003
|
|
NM_001291867.2(NHS):c.2047G>A (p.Val683Met)
|
rs587780403
|
0.00003
|
|
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr)
|
rs200319078
|
0.00003
|
|
NM_001323289.2(CDKL5):c.1071C>T (p.Asp357=)
|
rs144204039
|
0.00003
|
|
NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val)
|
rs201542547
|
0.00003
|
|
NM_001330078.2(NRXN1):c.777C>T (p.Asp259=)
|
rs587780407
|
0.00003
|
|
NM_001330574.2(ZNF711):c.320A>G (p.Asp107Gly)
|
rs797046131
|
0.00003
|
|
NM_001347721.2(DYRK1A):c.638-3C>T
|
rs779620187
|
0.00003
|
|
NM_001347721.2(DYRK1A):c.818G>A (p.Ser273Asn)
|
rs758888181
|
0.00003
|
|
NM_001349338.3(FOXP1):c.306G>A (p.Met102Ile)
|
rs749611196
|
0.00003
|
|
NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=)
|
rs35855196
|
0.00003
|
|
NM_001365999.1(SZT2):c.4113C>G (p.Ser1371Arg)
|
rs1001442150
|
0.00003
|
|
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter)
|
rs145577757
|
0.00003
|
|
NM_001368397.1(FRMPD4):c.3523G>A (p.Asp1175Asn)
|
rs371295955
|
0.00003
|
|
NM_001368397.1(FRMPD4):c.3964+5A>G
|
rs746521307
|
0.00003
|
|
NM_001371904.1(APOA5):c.161+5G>C
|
rs200831171
|
0.00003
|
|
NM_001372044.2(SHANK3):c.928C>T (p.Leu310=)
|
rs756340256
|
0.00003
|
|
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala)
|
rs749315126
|
0.00003
|
|
NM_001374828.1(ARID1B):c.2102C>T (p.Pro701Leu)
|
rs772078777
|
0.00003
|
|
NM_001374828.1(ARID1B):c.2316A>G (p.Ala772=)
|
rs745528262
|
0.00003
|
|
NM_001374828.1(ARID1B):c.3009G>A (p.Pro1003=)
|
rs587779742
|
0.00003
|
|
NM_001374828.1(ARID1B):c.3260T>C (p.Met1087Thr)
|
rs371523255
|
0.00003
|
|
NM_001374828.1(ARID1B):c.5325G>T (p.Thr1775=)
|
rs146620657
|
0.00003
|
|
NM_001375405.1(CEP120):c.1202A>C (p.Glu401Ala)
|
rs776114102
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=)
|
rs760532492
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.13261G>A (p.Ala4421Thr)
|
rs376492799
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.2399A>G (p.Tyr800Cys)
|
rs776822327
|
0.00003
|
|
NM_001377304.1(GFI1B):c.648+4G>T
|
rs200207746
|
0.00003
|
|
NM_001378120.1(MBD5):c.1633T>C (p.Ser545Pro)
|
rs775791197
|
0.00003
|
|
NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg)
|
rs184415910
|
0.00003
|
|
NM_001378418.1(TCF20):c.2887G>A (p.Gly963Ser)
|
rs200854743
|
0.00003
|
|
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala)
|
rs765405386
|
0.00003
|
|
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)
|
rs553507775
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)
|
rs587779732
|
0.00003
|
|
NM_001382347.1(MYO5A):c.1094G>A (p.Gly365Asp)
|
rs758345429
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)
|
rs375009168
|
0.00003
|
|
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)
|
rs587780337
|
0.00003
|
|
NM_001493.3(GDI1):c.936C>T (p.Asn312=)
|
rs782320151
|
0.00003
|
|
NM_001543.5(NDST1):c.323G>A (p.Arg108His)
|
rs757083883
|
0.00003
|
|
NM_001551.3(IGBP1):c.872-3T>C
|
rs775974573
|
0.00003
|
|
NM_001715.3(BLK):c.630T>C (p.Asp210=)
|
rs1443676018
|
0.00003
|
|
NM_001754.5(RUNX1):c.1257G>A (p.Val419=)
|
rs1172332120
|
0.00003
|
|
NM_001754.5(RUNX1):c.179C>T (p.Ala60Val)
|
rs765314703
|
0.00003
|
|
NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys)
|
rs561166961
|
0.00003
|
|
NM_001754.5(RUNX1):c.984A>G (p.Thr328=)
|
rs377305704
|
0.00003
|
|
NM_001830.4(CLCN4):c.2043C>T (p.Pro681=)
|
rs770044114
|
0.00003
|
|
NM_001972.4(ELANE):c.21C>T (p.Leu7=)
|
rs200666143
|
0.00003
|
|
NM_001972.4(ELANE):c.627C>T (p.Asn209=)
|
rs201664319
|
0.00003
|
|
NM_001987.5(ETV6):c.1254G>A (p.Arg418=)
|
rs1210398083
|
0.00003
|
|
NM_001987.5(ETV6):c.556A>G (p.Ile186Val)
|
rs372716250
|
0.00003
|
|
NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe)
|
rs200450195
|
0.00003
|
|
NM_002113.3(CFHR1):c.195A>C (p.Ser65=)
|
rs41305054
|
0.00003
|
|
NM_002241.5(KCNJ10):c.10G>A (p.Val4Ile)
|
rs144428351
|
0.00003
|
|
NM_002439.5(MSH3):c.2223T>C (p.Ser741=)
|
rs147657467
|
0.00003
|
|
NM_002465.4(MYBPC1):c.103+5G>T
|
rs777320127
|
0.00003
|
|
NM_002519.3(NPAT):c.3409C>T (p.Arg1137Trp)
|
rs568463788
|
0.00003
|
|
NM_002519.3(NPAT):c.4209A>G (p.Lys1403=)
|
rs373369834
|
0.00003
|
|
NM_002582.4(PARN):c.1691T>C (p.Val564Ala)
|
rs200433771
|
0.00003
|
|
NM_002582.4(PARN):c.540T>C (p.Phe180=)
|
rs375818973
|
0.00003
|
|
NM_002582.4(PARN):c.581G>A (p.Ser194Asn)
|
rs374622245
|
0.00003
|
|
NM_002666.5(PLIN1):c.975G>C (p.Leu325=)
|
rs141040593
|
0.00003
|
|
NM_002691.4(POLD1):c.784G>A (p.Gly262Ser)
|
rs571623032
|
0.00003
|
|
NM_002693.3(POLG):c.1235C>T (p.Pro412Leu)
|
rs587780420
|
0.00003
|
|
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met)
|
rs397507536
|
0.00003
|
|
NM_002834.5(PTPN11):c.1404G>C (p.Thr468=)
|
rs587781130
|
0.00003
|
|
NM_002834.5(PTPN11):c.879C>T (p.His293=)
|
rs117730996
|
0.00003
|
|
NM_002894.3(RBBP8):c.-1G>A
|
rs148708986
|
0.00003
|
|
NM_002894.3(RBBP8):c.2257G>A (p.Glu753Lys)
|
rs774631370
|
0.00003
|
|
NM_002894.3(RBBP8):c.2455-4T>G
|
rs374660795
|
0.00003
|
|
NM_002894.3(RBBP8):c.541A>T (p.Asn181Tyr)
|
rs748972422
|
0.00003
|
|
NM_002894.3(RBBP8):c.946C>T (p.Pro316Ser)
|
rs150369515
|
0.00003
|
|
NM_003000.3(SDHB):c.-5C>T
|
rs200890535
|
0.00003
|
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
|
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile)
|
rs200802632
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg)
|
rs1043517699
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=)
|
rs149111403
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3429C>T (p.Asn1143=)
|
rs768127028
|
0.00003
|
|
NM_003184.4(TAF2):c.3478A>C (p.Lys1160Gln)
|
rs755785500
|
0.00003
|
|
NM_003235.5(TG):c.3397G>A (p.Glu1133Lys)
|
rs375727924
|
0.00003
|
|
NM_003282.4(TNNI2):c.453+5G>A
|
rs748718210
|
0.00003
|
|
NM_003356.4(UCP3):c.156G>A (p.Thr52=)
|
rs745356543
|
0.00003
|
|
NM_003383.5(VLDLR):c.1245C>T (p.Gly415=)
|
rs746308049
|
0.00003
|
|
NM_003383.5(VLDLR):c.2085T>C (p.His695=)
|
rs748367754
|
0.00003
|
|
NM_003383.5(VLDLR):c.494G>A (p.Arg165His)
|
rs532269001
|
0.00003
|
|
NM_003482.4(KMT2D):c.12664C>G (p.Leu4222Val)
|
rs375330730
|
0.00003
|
|
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln)
|
rs774403945
|
0.00003
|
|
NM_003482.4(KMT2D):c.2215G>A (p.Glu739Lys)
|
rs587783706
|
0.00003
|
|
NM_003482.4(KMT2D):c.2533C>T (p.Arg845Trp)
|
rs746841307
|
0.00003
|
|
NM_003482.4(KMT2D):c.3907-9T>G
|
rs367751308
|
0.00003
|
|
NM_003482.4(KMT2D):c.4941C>T (p.Thr1647=)
|
rs748740454
|
0.00003
|
|
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=)
|
rs398123756
|
0.00003
|
|
NM_003482.4(KMT2D):c.7108C>T (p.Arg2370Cys)
|
rs1028524252
|
0.00003
|
|
NM_003482.4(KMT2D):c.8904G>A (p.Pro2968=)
|
rs767700267
|
0.00003
|
|
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys)
|
rs370691849
|
0.00003
|
|
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)
|
rs587784353
|
0.00003
|
|
NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys)
|
rs757875185
|
0.00003
|
|
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val)
|
rs192285113
|
0.00003
|
|
NM_003619.4(PRSS12):c.2128dup (p.Gln710fs)
|
rs757141803
|
0.00003
|
|
NM_003922.4(HERC1):c.3258C>G (p.Leu1086=)
|
rs530606514
|
0.00003
|
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
|
NM_004153.4(ORC1):c.2571G>A (p.Ala857=)
|
rs192392819
|
0.00003
|
|
NM_004168.4(SDHA):c.1233C>T (p.Gly411=)
|
rs376530094
|
0.00003
|
|
NM_004268.5(MED17):c.1538C>T (p.Thr513Ile)
|
rs761922335
|
0.00003
|
|
NM_004278.4(PIGL):c.426+14T>C
|
rs138467285
|
0.00003
|
|
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser)
|
rs587781898
|
0.00003
|
|
NM_004360.5(CDH1):c.688-4T>C
|
rs781633588
|
0.00003
|
|
NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser)
|
rs587778192
|
0.00003
|
|
NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser)
|
rs1328994773
|
0.00003
|
|
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser)
|
rs779479811
|
0.00003
|
|
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)
|
rs200287696
|
0.00003
|
|
NM_004493.3(HSD17B10):c.144G>A (p.Glu48=)
|
rs782158864
|
0.00003
|
|
NM_004523.4(KIF11):c.2106G>T (p.Lys702Asn)
|
rs189734472
|
0.00003
|
|
NM_004629.2(FANCG):c.380G>A (p.Arg127His)
|
rs780985218
|
0.00003
|
|
NM_004629.2(FANCG):c.835T>G (p.Trp279Gly)
|
rs749604746
|
0.00003
|
|
NM_004656.4(BAP1):c.1219G>A (p.Asp407Asn)
|
rs765347562
|
0.00003
|
|
NM_004656.4(BAP1):c.1224C>T (p.Asp408=)
|
rs755110121
|
0.00003
|
|
NM_004656.4(BAP1):c.705C>T (p.Pro235=)
|
rs138180791
|
0.00003
|
|
NM_004722.4(AP4M1):c.1069G>T (p.Ala357Ser)
|
rs762843731
|
0.00003
|
|
NM_004722.4(AP4M1):c.1294G>A (p.Gly432Ser)
|
rs751435731
|
0.00003
|
|
NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala)
|
rs757747386
|
0.00003
|
|
NM_004722.4(AP4M1):c.673+7C>T
|
rs753446678
|
0.00003
|
|
NM_004722.4(AP4M1):c.762G>A (p.Ser254=)
|
rs774302896
|
0.00003
|
|
NM_004830.4(MED23):c.1206A>G (p.Leu402=)
|
rs377352569
|
0.00003
|
|
NM_004830.4(MED23):c.3669A>G (p.Gln1223=)
|
rs753511838
|
0.00003
|
|
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe)
|
rs755207439
|
0.00003
|
|
NM_004830.4(MED23):c.452C>G (p.Thr151Arg)
|
rs143799081
|
0.00003
|
|
NM_004840.3(ARHGEF6):c.1932T>C (p.Tyr644=)
|
rs747132755
|
0.00003
|
|
NM_004933.3(CDH15):c.227G>A (p.Gly76Asp)
|
rs587780299
|
0.00003
|
|
NM_004933.3(CDH15):c.671C>T (p.Ala224Val)
|
rs587780300
|
0.00003
|
|
NM_004972.4(JAK2):c.1666T>G (p.Phe556Val)
|
rs764634461
|
0.00003
|
|
NM_004991.4(MECOM):c.3683C>T (p.Ala1228Val)
|
rs779316050
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1503G>A (p.Val501=)
|
rs577709153
|
0.00003
|
|
NM_005027.4(PIK3R2):c.975G>A (p.Leu325=)
|
rs376737972
|
0.00003
|
|
NM_005045.4(RELN):c.6888G>A (p.Pro2296=)
|
rs142792443
|
0.00003
|
|
NM_005045.4(RELN):c.795A>G (p.Gln265=)
|
rs749580328
|
0.00003
|
|
NM_005045.4(RELN):c.8703C>A (p.Ile2901=)
|
rs367803009
|
0.00003
|
|
NM_005051.3(QARS1):c.780T>C (p.Thr260=)
|
rs367793549
|
0.00003
|
|
NM_005068.3(SIM1):c.2173G>A (p.Glu725Lys)
|
rs540345980
|
0.00003
|
|
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg)
|
rs1369884955
|
0.00003
|
|
NM_005188.4(CBL):c.2691C>T (p.Ser897=)
|
rs762560254
|
0.00003
|
|
NM_005228.5(EGFR):c.2492G>A (p.Arg831His)
|
rs150036236
|
0.00003
|
|
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=)
|
rs565249189
|
0.00003
|
|
NM_005249.5(FOXG1):c.*8G>T
|
rs373961431
|
0.00003
|
|
NM_005249.5(FOXG1):c.1218C>G (p.Ser406=)
|
rs587783628
|
0.00003
|
|
NM_005271.5(GLUD1):c.1123G>A (p.Asp375Asn)
|
rs775247684
|
0.00003
|
|
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met)
|
rs782047045
|
0.00003
|
|
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)
|
rs372301724
|
0.00003
|
|
NM_005357.4(LIPE):c.818G>A (p.Gly273Glu)
|
rs148579406
|
0.00003
|
|
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)
|
rs754859909
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr)
|
rs797045971
|
0.00003
|
|
NM_005886.3(KATNB1):c.49G>A (p.Val17Ile)
|
rs191188396
|
0.00003
|
|
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)
|
rs766665118
|
0.00003
|
|
NM_005912.3(MC4R):c.750_751del (p.Ile251fs)
|
rs13447339
|
0.00003
|
|
NM_006015.6(ARID1A):c.1619C>T (p.Thr540Met)
|
rs892173376
|
0.00003
|
|
NM_006015.6(ARID1A):c.3668G>A (p.Arg1223His)
|
rs768377977
|
0.00003
|
|
NM_006031.6(PCNT):c.1224G>A (p.Leu408=)
|
rs797045874
|
0.00003
|
|
NM_006031.6(PCNT):c.138C>T (p.Val46=)
|
rs762863150
|
0.00003
|
|
NM_006031.6(PCNT):c.139G>C (p.Asp47His)
|
rs112837071
|
0.00003
|
|
NM_006031.6(PCNT):c.1743C>T (p.Leu581=)
|
rs375581809
|
0.00003
|
|
NM_006031.6(PCNT):c.1754G>A (p.Arg585Gln)
|
rs769615384
|
0.00003
|
|
NM_006031.6(PCNT):c.2154+8G>A
|
rs778407564
|
0.00003
|
|
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp)
|
rs138361417
|
0.00003
|
|
NM_006031.6(PCNT):c.336T>C (p.His112=)
|
rs59157477
|
0.00003
|
|
NM_006031.6(PCNT):c.339T>A (p.Pro113=)
|
rs59662841
|
0.00003
|
|
NM_006031.6(PCNT):c.3469G>C (p.Ala1157Pro)
|
rs778900170
|
0.00003
|
|
NM_006031.6(PCNT):c.3571C>T (p.Leu1191=)
|
rs370240856
|
0.00003
|
|
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys)
|
rs587784309
|
0.00003
|
|
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=)
|
rs761816773
|
0.00003
|
|
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr)
|
rs587784315
|
0.00003
|
|
NM_006031.6(PCNT):c.6888G>A (p.Pro2296=)
|
rs532762118
|
0.00003
|
|
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys)
|
rs751297741
|
0.00003
|
|
NM_006031.6(PCNT):c.7282G>A (p.Glu2428Lys)
|
rs778163048
|
0.00003
|
|
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg)
|
rs373432697
|
0.00003
|
|
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln)
|
rs149779006
|
0.00003
|
|
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp)
|
rs761885630
|
0.00003
|
|
NM_006031.6(PCNT):c.9035T>C (p.Val3012Ala)
|
rs557745291
|
0.00003
|
|
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys)
|
rs775636867
|
0.00003
|
|
NM_006031.6(PCNT):c.9597C>T (p.Ala3199=)
|
rs780802031
|
0.00003
|
|
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu)
|
rs138860570
|
0.00003
|
|
NM_006059.4(LAMC3):c.4614G>A (p.Gln1538=)
|
rs754251028
|
0.00003
|
|
NM_006086.4(TUBB3):c.1170G>A (p.Arg390=)
|
rs587784503
|
0.00003
|
|
NM_006087.4(TUBB4A):c.667G>A (p.Gly223Arg)
|
rs797046078
|
0.00003
|
|
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys)
|
rs766511597
|
0.00003
|
|
NM_006265.3(RAD21):c.1782C>T (p.Ala594=)
|
rs61737172
|
0.00003
|
|
NM_006295.3(VARS1):c.2962C>T (p.Arg988Cys)
|
rs571597169
|
0.00003
|
|
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg)
|
rs797045222
|
0.00003
|
|
NM_006420.3(ARFGEF2):c.2639C>T (p.Pro880Leu)
|
rs183852730
|
0.00003
|
|
NM_006420.3(ARFGEF2):c.3274C>T (p.Arg1092Cys)
|
rs144190029
|
0.00003
|
|
NM_006420.3(ARFGEF2):c.808G>A (p.Ala270Thr)
|
rs778834589
|
0.00003
|
|
NM_006420.3(ARFGEF2):c.907+9C>T
|
rs538199862
|
0.00003
|
|
NM_006565.4(CTCF):c.121C>G (p.Pro41Ala)
|
rs369072233
|
0.00003
|
|
NM_006623.4(PHGDH):c.932C>T (p.Ser311Phe)
|
rs143340742
|
0.00003
|
|
NM_006662.3(SRCAP):c.5300C>T (p.Thr1767Met)
|
rs181491375
|
0.00003
|
|
NM_006892.4(DNMT3B):c.684C>T (p.Leu228=)
|
rs373811098
|
0.00003
|
|
NM_006947.4(SRP72):c.1871C>T (p.Thr624Ile)
|
rs797046009
|
0.00003
|
|
NM_006947.4(SRP72):c.872C>T (p.Ala291Val)
|
rs758054768
|
0.00003
|
|
NM_006949.4(STXBP2):c.1453-9G>A
|
rs372742473
|
0.00003
|
|
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe)
|
rs759321228
|
0.00003
|
|
NM_007059.4(KPTN):c.1268A>G (p.Glu423Gly)
|
rs781132082
|
0.00003
|
|
NM_007118.4(TRIO):c.1467A>G (p.Gly489=)
|
rs759501399
|
0.00003
|
|
NM_007137.5(ZNF81):c.598A>C (p.Lys200Gln)
|
rs1317401441
|
0.00003
|
|
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)
|
rs587781960
|
0.00003
|
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
0.00003
|
|
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys)
|
rs148053495
|
0.00003
|
|
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)
|
rs549000007
|
0.00003
|
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
|
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=)
|
rs273901761
|
0.00003
|
|
NM_007294.4(BRCA1):c.671-8A>G
|
rs80358144
|
0.00003
|
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
|
NM_007327.4(GRIN1):c.426G>A (p.Pro142=)
|
rs201424528
|
0.00003
|
|
NM_012082.4(ZFPM2):c.1975_1977del (p.Asn659del)
|
rs759533183
|
0.00003
|
|
NM_012301.4(MAGI2):c.1713C>T (p.Ser571=)
|
rs587780386
|
0.00003
|
|
NM_012309.5(SHANK2):c.3299C>T (p.Pro1100Leu)
|
rs200213968
|
0.00003
|
|
NM_012309.5(SHANK2):c.4195G>A (p.Val1399Met)
|
rs544429954
|
0.00003
|
|
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val)
|
rs764713903
|
0.00003
|
|
NM_012414.4(RAB3GAP2):c.655A>G (p.Ile219Val)
|
rs1345506404
|
0.00003
|
|
NM_013296.5(GPSM2):c.1553C>T (p.Thr518Ile)
|
rs746051536
|
0.00003
|
|
NM_014008.5(CCDC22):c.1590G>A (p.Gly530=)
|
rs782616050
|
0.00003
|
|
NM_014008.5(CCDC22):c.161G>C (p.Ser54Thr)
|
rs201443058
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.340C>T (p.Arg114Trp)
|
rs756180841
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.3427G>A (p.Asp1143Asn)
|
rs765950760
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.3783G>A (p.Ser1261=)
|
rs778395783
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.3857T>C (p.Met1286Thr)
|
rs150167891
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly)
|
rs587780320
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.718C>T (p.Leu240=)
|
rs538043826
|
0.00003
|
|
NM_014159.7(SETD2):c.3168G>A (p.Ser1056=)
|
rs768944836
|
0.00003
|
|
NM_014176.4(UBE2T):c.509G>T (p.Gly170Val)
|
rs763798312
|
0.00003
|
|
NM_014321.4(ORC6):c.359+7G>A
|
rs765437962
|
0.00003
|
|
NM_014467.3(SRPX2):c.671G>A (p.Arg224Gln)
|
rs763624310
|
0.00003
|
|
NM_014795.4(ZEB2):c.225C>T (p.Ser75=)
|
rs754754722
|
0.00003
|
|
NM_014795.4(ZEB2):c.3444C>T (p.Tyr1148=)
|
rs374141392
|
0.00003
|
|
NM_014915.3(ANKRD26):c.1790G>C (p.Arg597Thr)
|
rs370413541
|
0.00003
|
|
NM_014915.3(ANKRD26):c.2420C>T (p.Thr807Met)
|
rs955032293
|
0.00003
|
|
NM_015080.4(NRXN2):c.1838C>T (p.Ala613Val)
|
rs748162664
|
0.00003
|
|
NM_015080.4(NRXN2):c.1851C>T (p.Ser617=)
|
rs546067920
|
0.00003
|
|
NM_015080.4(NRXN2):c.2677A>G (p.Met893Val)
|
rs765465352
|
0.00003
|
|
NM_015080.4(NRXN2):c.4437C>T (p.Ala1479=)
|
rs71579869
|
0.00003
|
|
NM_015080.4(NRXN2):c.670C>T (p.Pro224Ser)
|
rs772811573
|
0.00003
|
|
NM_015214.3(DDHD2):c.1009A>C (p.Arg337=)
|
rs778628163
|
0.00003
|
|
NM_015215.4(CAMTA1):c.1441A>G (p.Met481Val)
|
rs142884344
|
0.00003
|
|
NM_015275.3(WASHC4):c.-3G>T
|
rs1221246198
|
0.00003
|
|
NM_015275.3(WASHC4):c.416G>A (p.Arg139Lys)
|
rs772413743
|
0.00003
|
|
NM_015275.3(WASHC4):c.480C>T (p.Asn160=)
|
rs779475601
|
0.00003
|
|
NM_015450.3(POT1):c.*1507A>G
|
rs537858943
|
0.00003
|
|
NM_015450.3(POT1):c.1256A>G (p.Tyr419Cys)
|
rs770213689
|
0.00003
|
|
NM_015450.3(POT1):c.977T>C (p.Val326Ala)
|
rs75932146
|
0.00003
|
|
NM_015599.3(PGM3):c.-2-194C>T
|
rs753019951
|
0.00003
|
|
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu)
|
rs535199429
|
0.00003
|
|
NM_015662.3(IFT172):c.707G>A (p.Arg236His)
|
rs768290728
|
0.00003
|
|
NM_015665.6(AAAS):c.1331+1G>A
|
rs150511103
|
0.00003
|
|
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu)
|
rs769448704
|
0.00003
|
|
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val)
|
rs748872789
|
0.00003
|
|
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His)
|
rs747962927
|
0.00003
|
|
NM_016219.5(MAN1B1):c.1825C>T (p.Arg609Cys)
|
rs377707640
|
0.00003
|
|
NM_016219.5(MAN1B1):c.466-4A>G
|
rs766062319
|
0.00003
|
|
NM_016222.4(DDX41):c.1547A>G (p.Tyr516Cys)
|
rs1014402897
|
0.00003
|
|
NM_016222.4(DDX41):c.560A>G (p.Lys187Arg)
|
rs185950985
|
0.00003
|
|
NM_016343.4(CENPF):c.4892C>T (p.Thr1631Met)
|
rs769388025
|
0.00003
|
|
NM_016343.4(CENPF):c.8485+3G>C
|
rs527897605
|
0.00003
|
|
NM_016734.3(PAX5):c.1099+12C>T
|
rs199885584
|
0.00003
|
|
NM_016734.3(PAX5):c.1169G>A (p.Arg390His)
|
rs771002648
|
0.00003
|
|
NM_016734.3(PAX5):c.717C>T (p.Arg239=)
|
rs774702142
|
0.00003
|
|
NM_016734.3(PAX5):c.774C>T (p.Pro258=)
|
rs113556063
|
0.00003
|
|
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter)
|
rs572380130
|
0.00003
|
|
NM_017654.4(SAMD9):c.3624C>T (p.Ile1208=)
|
rs770476888
|
0.00003
|
|
NM_017654.4(SAMD9):c.3764C>T (p.Pro1255Leu)
|
rs766301292
|
0.00003
|
|
NM_017654.4(SAMD9):c.868G>C (p.Val290Leu)
|
rs139583166
|
0.00003
|
|
NM_017721.5(CC2D1A):c.197-5G>A
|
rs373157979
|
0.00003
|
|
NM_017739.4(POMGNT1):c.1783A>G (p.Lys595Glu)
|
rs797045896
|
0.00003
|
|
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)
|
rs776165339
|
0.00003
|
|
NM_017755.6(NSUN2):c.1804C>T (p.Arg602Trp)
|
rs371887249
|
0.00003
|
|
NM_017755.6(NSUN2):c.2259C>T (p.Asp753=)
|
rs372574598
|
0.00003
|
|
NM_017755.6(NSUN2):c.2280G>C (p.Pro760=)
|
rs150472251
|
0.00003
|
|
NM_017755.6(NSUN2):c.763G>A (p.Gly255Ser)
|
rs140003855
|
0.00003
|
|
NM_017757.3(ZNF407):c.1519C>T (p.Arg507Cys)
|
rs780972850
|
0.00003
|
|
NM_017757.3(ZNF407):c.1530C>T (p.Asp510=)
|
rs373519575
|
0.00003
|
|
NM_017757.3(ZNF407):c.246G>A (p.Glu82=)
|
rs748374834
|
0.00003
|
|
NM_017757.3(ZNF407):c.2822T>C (p.Met941Thr)
|
rs771704650
|
0.00003
|
|
NM_017757.3(ZNF407):c.3902C>T (p.Pro1301Leu)
|
rs750218080
|
0.00003
|
|
NM_017777.4(MKS1):c.1260G>A (p.Leu420=)
|
rs749099410
|
0.00003
|
|
NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu)
|
rs776871277
|
0.00003
|
|
NM_017780.4(CHD7):c.5271G>A (p.Ala1757=)
|
rs775003129
|
0.00003
|
|
NM_017780.4(CHD7):c.7570C>T (p.Leu2524=)
|
rs751931671
|
0.00003
|
|
NM_017838.4(NHP2):c.109C>T (p.Pro37Ser)
|
rs201390429
|
0.00003
|
|
NM_018026.4(PACS1):c.83C>G (p.Ser28Cys)
|
rs763294619
|
0.00003
|
|
NM_018075.5(ANO10):c.337+1G>A
|
rs765592794
|
0.00003
|
|
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)
|
rs371151471
|
0.00003
|
|
NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr)
|
rs1404085657
|
0.00003
|
|
NM_018136.5(ASPM):c.1995C>T (p.Ser665=)
|
rs797045310
|
0.00003
|
|
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys)
|
rs367946511
|
0.00003
|
|
NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr)
|
rs181039922
|
0.00003
|
|
NM_018136.5(ASPM):c.609C>T (p.Gly203=)
|
rs587783255
|
0.00003
|
|
NM_018136.5(ASPM):c.8523A>G (p.Leu2841=)
|
rs587783281
|
0.00003
|
|
NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr)
|
rs775263946
|
0.00003
|
|
NM_018136.5(ASPM):c.8986C>T (p.Arg2996Trp)
|
rs772813676
|
0.00003
|
|
NM_018136.5(ASPM):c.9151C>T (p.Arg3051Trp)
|
rs142024644
|
0.00003
|
|
NM_018136.5(ASPM):c.9726G>A (p.Glu3242=)
|
rs587783294
|
0.00003
|
|
NM_018136.5(ASPM):c.9928A>G (p.Ile3310Val)
|
rs147256280
|
0.00003
|
|
NM_018249.6(CDK5RAP2):c.3859G>T (p.Ala1287Ser)
|
rs587783386
|
0.00003
|
|
NM_018249.6(CDK5RAP2):c.4822A>G (p.Ser1608Gly)
|
rs372057183
|
0.00003
|
|
NM_018451.5(CENPJ):c.1649A>G (p.Glu550Gly)
|
rs761158184
|
0.00003
|
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
|
NM_019066.5(MAGEL2):c.3273C>T (p.Asn1091=)
|
rs369033422
|
0.00003
|
|
NM_020066.5(FMN2):c.5072C>T (p.Ala1691Val)
|
rs183078344
|
0.00003
|
|
NM_020066.5(FMN2):c.681G>A (p.Gln227=)
|
rs766474706
|
0.00003
|
|
NM_020461.4(TUBGCP6):c.2066-6A>G
|
rs368765755
|
0.00003
|
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
|
NM_020921.4(NIN):c.3997G>A (p.Glu1333Lys)
|
rs369577037
|
0.00003
|
|
NM_020937.4(FANCM):c.1706G>A (p.Arg569His)
|
rs754308821
|
0.00003
|
|
NM_020937.4(FANCM):c.3407T>C (p.Leu1136Ser)
|
rs770989272
|
0.00003
|
|
NM_020937.4(FANCM):c.4878T>C (p.Asp1626=)
|
rs150389713
|
0.00003
|
|
NM_020975.6(RET):c.1083C>A (p.Asn361Lys)
|
rs770587835
|
0.00003
|
|
NM_020975.6(RET):c.31C>A (p.Leu11Met)
|
rs587780812
|
0.00003
|
|
NM_020987.5(ANK3):c.11683T>C (p.Ser3895Pro)
|
rs797045230
|
0.00003
|
|
NM_020987.5(ANK3):c.2457C>T (p.Thr819=)
|
rs201677725
|
0.00003
|
|
NM_020987.5(ANK3):c.2916T>C (p.Asn972=)
|
rs797045232
|
0.00003
|
|
NM_020987.5(ANK3):c.6695G>A (p.Arg2232Gln)
|
rs770107349
|
0.00003
|
|
NM_020987.5(ANK3):c.6886C>T (p.His2296Tyr)
|
rs766586650
|
0.00003
|
|
NM_020987.5(ANK3):c.7612A>C (p.Lys2538Gln)
|
rs1444899871
|
0.00003
|
|
NM_020987.5(ANK3):c.7986C>T (p.Ala2662=)
|
rs147625375
|
0.00003
|
|
NM_020987.5(ANK3):c.8272G>A (p.Val2758Ile)
|
rs150537210
|
0.00003
|
|
NM_020987.5(ANK3):c.8826C>T (p.Gly2942=)
|
rs759805962
|
0.00003
|
|
NM_021252.5(RAB18):c.259+9T>A
|
rs753268202
|
0.00003
|
|
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile)
|
rs201970876
|
0.00003
|
|
NM_021956.5(GRIK2):c.2487C>T (p.Ala829=)
|
rs370196358
|
0.00003
|
|
NM_022081.6(HPS4):c.316A>C (p.Lys106Gln)
|
rs149817614
|
0.00003
|
|
NM_022095.4(ZNF335):c.2376G>A (p.Thr792=)
|
rs146076876
|
0.00003
|
|
NM_022095.4(ZNF335):c.3068T>C (p.Ile1023Thr)
|
rs544636355
|
0.00003
|
|
NM_022095.4(ZNF335):c.3670-8A>C
|
rs772015167
|
0.00003
|
|
NM_022455.5(NSD1):c.1224A>G (p.Gly408=)
|
rs587784069
|
0.00003
|
|
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser)
|
rs141911573
|
0.00003
|
|
NM_022455.5(NSD1):c.6001C>T (p.Leu2001=)
|
rs587784172
|
0.00003
|
|
NM_022455.5(NSD1):c.767C>T (p.Ala256Val)
|
rs558302421
|
0.00003
|
|
NM_022725.4(FANCF):c.785T>C (p.Leu262Ser)
|
rs368067979
|
0.00003
|
|
NM_024101.7(MLPH):c.1558G>T (p.Ala520Ser)
|
rs764964175
|
0.00003
|
|
NM_024411.5(PDYN):c.583G>A (p.Gly195Arg)
|
rs766877230
|
0.00003
|
|
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser)
|
rs189380942
|
0.00003
|
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
|
NM_024735.5(FBXO31):c.399C>T (p.Asp133=)
|
rs370916343
|
0.00003
|
|
NM_024747.6(HPS6):c.2306C>T (p.Pro769Leu)
|
rs369970908
|
0.00003
|
|
NM_024757.5(EHMT1):c.1014C>T (p.His338=)
|
rs753010324
|
0.00003
|
|
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp)
|
rs202066668
|
0.00003
|
|
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile)
|
rs797045554
|
0.00003
|
|
NM_024757.5(EHMT1):c.2925C>T (p.Pro975=)
|
rs772612738
|
0.00003
|
|
NM_024884.3(L2HGDH):c.720T>C (p.Ile240=)
|
rs111946925
|
0.00003
|
|
NM_024884.3(L2HGDH):c.987A>G (p.Ala329=)
|
rs146196275
|
0.00003
|
|
NM_024989.4(PGAP1):c.2440C>T (p.Arg814Cys)
|
rs755267355
|
0.00003
|
|
NM_025009.5(CEP135):c.2690C>T (p.Ala897Val)
|
rs1041673125
|
0.00003
|
|
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln)
|
rs776684484
|
0.00003
|
|
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=)
|
rs760547081
|
0.00003
|
|
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter)
|
rs373198092
|
0.00003
|
|
NM_025265.4(TSEN2):c.608C>T (p.Thr203Ile)
|
rs35557378
|
0.00003
|
|
NM_030632.3(ASXL3):c.3464C>T (p.Ser1155Leu)
|
rs377619533
|
0.00003
|
|
NM_030632.3(ASXL3):c.4471G>A (p.Val1491Ile)
|
rs751537958
|
0.00003
|
|
NM_030665.4(RAI1):c.2290G>A (p.Glu764Lys)
|
rs764807307
|
0.00003
|
|
NM_030665.4(RAI1):c.2544C>T (p.Ala848=)
|
rs777023372
|
0.00003
|
|
NM_030665.4(RAI1):c.4682G>A (p.Arg1561Gln)
|
rs755678482
|
0.00003
|
|
NM_030665.4(RAI1):c.776C>T (p.Pro259Leu)
|
rs758661378
|
0.00003
|
|
NM_030928.4(CDT1):c.1540C>T (p.Arg514Cys)
|
rs766544551
|
0.00003
|
|
NM_030962.4(SBF2):c.2350A>G (p.Ile784Val)
|
rs758912920
|
0.00003
|
|
NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg)
|
rs775360425
|
0.00003
|
|
NM_030962.4(SBF2):c.93T>C (p.Phe31=)
|
rs200263159
|
0.00003
|
|
NM_031407.7(HUWE1):c.10038A>G (p.Val3346=)
|
rs1169705354
|
0.00003
|
|
NM_031407.7(HUWE1):c.238G>A (p.Val80Ile)
|
rs373104305
|
0.00003
|
|
NM_031407.7(HUWE1):c.3648T>C (p.Leu1216=)
|
rs782116935
|
0.00003
|
|
NM_031407.7(HUWE1):c.4827C>T (p.Tyr1609=)
|
rs782435043
|
0.00003
|
|
NM_031407.7(HUWE1):c.957G>T (p.Gln319His)
|
rs782234241
|
0.00003
|
|
NM_032043.3(BRIP1):c.1499A>G (p.Lys500Arg)
|
rs746329838
|
0.00003
|
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
|
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=)
|
rs555200296
|
0.00003
|
|
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)
|
rs199683722
|
0.00003
|
|
NM_032444.4(SLX4):c.2124C>T (p.Phe708=)
|
rs564042887
|
0.00003
|
|
NM_032444.4(SLX4):c.2940C>T (p.Ala980=)
|
rs1415684146
|
0.00003
|
|
NM_032444.4(SLX4):c.349G>T (p.Ala117Ser)
|
rs775853263
|
0.00003
|
|
NM_032444.4(SLX4):c.4485G>C (p.Ala1495=)
|
rs140872903
|
0.00003
|
|
NM_032444.4(SLX4):c.5263G>T (p.Ala1755Ser)
|
rs780678810
|
0.00003
|
|
NM_032444.4(SLX4):c.708G>A (p.Ala236=)
|
rs765742613
|
0.00003
|
|
NM_032444.4(SLX4):c.922G>A (p.Val308Met)
|
rs775151113
|
0.00003
|
|
NM_032531.4(KIRREL3):c.1473C>T (p.Ala491=)
|
rs547178906
|
0.00003
|
|
NM_032531.4(KIRREL3):c.1537C>T (p.Arg513Trp)
|
rs587780377
|
0.00003
|
|
NM_032531.4(KIRREL3):c.183G>A (p.Ser61=)
|
rs750794406
|
0.00003
|
|
NM_032638.5(GATA2):c.-314G>A
|
rs1321601729
|
0.00003
|
|
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)
|
rs201155045
|
0.00003
|
|
NM_032638.5(GATA2):c.480C>T (p.Thr160=)
|
rs199640729
|
0.00003
|
|
NM_032737.4(LMNB2):c.1743G>C (p.Ser581=)
|
rs142082911
|
0.00003
|
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
|
NM_080632.3(UPF3B):c.883T>C (p.Leu295=)
|
rs755087452
|
0.00003
|
|
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu)
|
rs562253142
|
0.00003
|
|
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile)
|
rs587782910
|
0.00003
|
|
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr)
|
rs201482152
|
0.00003
|
|
NM_133433.4(NIPBL):c.3768+34T>G
|
rs149115930
|
0.00003
|
|
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly)
|
rs587784018
|
0.00003
|
|
NM_133444.3(ZNF526):c.994C>T (p.His332Tyr)
|
rs1207022095
|
0.00003
|
|
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=)
|
rs759427879
|
0.00003
|
|
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)
|
rs745582203
|
0.00003
|
|
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)
|
rs748931188
|
0.00003
|
|
NM_138422.4(ADAT3):c.59C>T (p.Ala20Val)
|
rs764240025
|
0.00003
|
|
NM_138425.4(C12orf57):c.-5G>A
|
rs373573883
|
0.00003
|
|
NM_138711.6(PPARG):c.145G>A (p.Glu49Lys)
|
rs777334819
|
0.00003
|
|
NM_144508.5(KNL1):c.6334G>A (p.Val2112Ile)
|
rs377578399
|
0.00003
|
|
NM_144508.5(KNL1):c.905A>C (p.Asn302Thr)
|
rs573778696
|
0.00003
|
|
NM_144628.4(TBC1D20):c.1060C>G (p.Arg354Gly)
|
rs199505430
|
0.00003
|
|
NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys)
|
rs149396342
|
0.00003
|
|
NM_144773.4(PROKR2):c.522C>T (p.Ile174=)
|
rs767395215
|
0.00003
|
|
NM_144969.3(ZDHHC15):c.32G>C (p.Gly11Ala)
|
rs922985625
|
0.00003
|
|
NM_152383.5(DIS3L2):c.360T>C (p.His120=)
|
rs748055073
|
0.00003
|
|
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His)
|
rs587780498
|
0.00003
|
|
NM_152564.5(VPS13B):c.5377C>T (p.Arg1793Cys)
|
rs760207080
|
0.00003
|
|
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe)
|
rs759411797
|
0.00003
|
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
|
NM_152703.5(SAMD9L):c.1764A>G (p.Gln588=)
|
rs776606453
|
0.00003
|
|
NM_152703.5(SAMD9L):c.3269G>A (p.Arg1090Lys)
|
rs753749828
|
0.00003
|
|
NM_152703.5(SAMD9L):c.4422A>T (p.Thr1474=)
|
rs749620937
|
0.00003
|
|
NM_152703.5(SAMD9L):c.4571G>A (p.Arg1524His)
|
rs138088725
|
0.00003
|
|
NM_152783.5(D2HGDH):c.327G>A (p.Ser109=)
|
rs374304979
|
0.00003
|
|
NM_152783.5(D2HGDH):c.773C>T (p.Ser258Leu)
|
rs754696671
|
0.00003
|
|
NM_152783.5(D2HGDH):c.821C>T (p.Pro274Leu)
|
rs781751387
|
0.00003
|
|
NM_171998.4(RAB39B):c.492C>T (p.Phe164=)
|
rs782453421
|
0.00003
|
|
NM_173630.4(RTTN):c.1768C>T (p.Leu590=)
|
rs752422245
|
0.00003
|
|
NM_173630.4(RTTN):c.6153+5G>A
|
rs587780443
|
0.00003
|
|
NM_174916.3(UBR1):c.3196A>G (p.Met1066Val)
|
rs776583103
|
0.00003
|
|
NM_175914.5(HNF4A):c.-18G>A
|
rs778173957
|
0.00003
|
|
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile)
|
rs377151067
|
0.00003
|
|
NM_181303.2(NLGN3):c.2166C>T (p.Asn722=)
|
rs146992370
|
0.00003
|
|
NM_181507.2(HPS5):c.2084C>T (p.Ser695Phe)
|
rs753514793
|
0.00003
|
|
NM_181507.2(HPS5):c.3059-10G>A
|
rs764418389
|
0.00003
|
|
NM_181523.3(PIK3R1):c.29C>T (p.Ala10Val)
|
rs767837787
|
0.00003
|
|
NM_182961.4(SYNE1):c.15794A>G (p.Gln5265Arg)
|
rs797046023
|
0.00003
|
|
NM_194318.4(B3GLCT):c.643A>G (p.Ile215Val)
|
rs370245124
|
0.00003
|
|
NM_198253.3(TERT):c.2221G>T (p.Val741Leu)
|
rs150819225
|
0.00003
|
|
NM_198253.3(TERT):c.2301A>G (p.Thr767=)
|
rs374592280
|
0.00003
|
|
NM_198253.3(TERT):c.2751G>A (p.Thr917=)
|
rs375200599
|
0.00003
|
|
NM_198253.3(TERT):c.2971-10G>T
|
rs878855303
|
0.00003
|
|
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)
|
rs759883263
|
0.00003
|
|
NM_198253.3(TERT):c.618C>T (p.Ser206=)
|
rs759142412
|
0.00003
|
|
NM_199242.3(UNC13D):c.2254C>A (p.Leu752Met)
|
rs756749933
|
0.00003
|
|
NM_201384.3(PLEC):c.3407G>A (p.Arg1136Gln)
|
rs782508056
|
0.00003
|
|
NM_201384.3(PLEC):c.6018G>A (p.Ala2006=)
|
rs782381723
|
0.00003
|
|
NM_201384.3(PLEC):c.6313G>A (p.Ala2105Thr)
|
rs781931836
|
0.00003
|
|
NM_201525.4(ADGRG1):c.1048G>A (p.Val350Ile)
|
rs587783649
|
0.00003
|
|
NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe)
|
rs144322912
|
0.00003
|
|
NM_207346.3(TSEN54):c.1181A>G (p.Gln394Arg)
|
rs560589823
|
0.00003
|
|
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg)
|
rs764706774
|
0.00002
|
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
|
NM_000044.6(AR):c.421G>A (p.Ala141Thr)
|
rs865948546
|
0.00002
|
|
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)
|
rs760676955
|
0.00002
|
|
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr)
|
rs587782163
|
0.00002
|
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
|
NM_000051.4(ATM):c.4626G>A (p.Leu1542=)
|
rs786202784
|
0.00002
|
|
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser)
|
rs150355232
|
0.00002
|
|
NM_000051.4(ATM):c.8151+11C>T
|
rs555381912
|
0.00002
|
|
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)
|
rs749085322
|
0.00002
|
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
|
NM_000059.4(BRCA2):c.2299A>C (p.Ser767Arg)
|
rs750755676
|
0.00002
|
|
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)
|
rs80358575
|
0.00002
|
|
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)
|
rs80358636
|
0.00002
|
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
|
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val)
|
rs80358737
|
0.00002
|
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
rs80358742
|
0.00002
|
|
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)
|
rs80358766
|
0.00002
|
|
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)
|
rs41293499
|
0.00002
|
|
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)
|
rs397507875
|
0.00002
|
|
NM_000059.4(BRCA2):c.708T>C (p.His236=)
|
rs185506536
|
0.00002
|
|
NM_000059.4(BRCA2):c.7317A>G (p.Gly2439=)
|
rs587780660
|
0.00002
|
|
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)
|
rs80359054
|
0.00002
|
|
NM_000064.4(C3):c.2983G>A (p.Val995Ile)
|
rs759285914
|
0.00002
|
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
|
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)
|
rs776936158
|
0.00002
|
|
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)
|
rs772801089
|
0.00002
|
|
NM_000135.4(FANCA):c.1558G>C (p.Asp520His)
|
rs754123446
|
0.00002
|
|
NM_000135.4(FANCA):c.2967G>A (p.Met989Ile)
|
rs1178389035
|
0.00002
|
|
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)
|
rs1060501883
|
0.00002
|
|
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)
|
rs369878171
|
0.00002
|
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
|
NM_000135.4(FANCA):c.4241G>A (p.Ser1414Asn)
|
rs772122405
|
0.00002
|
|
NM_000143.4(FH):c.270C>T (p.Thr90=)
|
rs748852152
|
0.00002
|
|
NM_000143.4(FH):c.664T>A (p.Ser222Thr)
|
rs1448268784
|
0.00002
|
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
|
NM_000156.6(GAMT):c.217A>G (p.Ile73Val)
|
rs771107085
|
0.00002
|
|
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser)
|
rs570476209
|
0.00002
|
|
NM_000162.3(GCK):c.-487C>G
|
rs1329261791
|
0.00002
|
|
NM_000162.5(GCK):c.-452G>A
|
rs187173652
|
0.00002
|
|
NM_000162.5(GCK):c.784G>A (p.Asp262Asn)
|
rs779460424
|
0.00002
|
|
NM_000168.6(GLI3):c.1593T>C (p.Tyr531=)
|
rs749798195
|
0.00002
|
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00002
|
|
NM_000179.3(MSH6):c.2604G>A (p.Met868Ile)
|
rs749508276
|
0.00002
|
|
NM_000186.4(CFH):c.2427A>G (p.Gln809=)
|
rs758809077
|
0.00002
|
|
NM_000194.3(HPRT1):c.384+9C>T
|
rs748658007
|
0.00002
|
|
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)
|
rs576260502
|
0.00002
|
|
NM_000195.5(HPS1):c.277G>A (p.Ala93Thr)
|
rs574738945
|
0.00002
|
|
NM_000208.4(INSR):c.3158G>A (p.Arg1053His)
|
rs748109926
|
0.00002
|
|
NM_000208.4(INSR):c.707A>G (p.His236Arg)
|
rs121913145
|
0.00002
|
|
NM_000209.4(PDX1):c.489G>A (p.Lys163=)
|
rs754210302
|
0.00002
|
|
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala)
|
rs1380564366
|
0.00002
|
|
NM_000240.4(MAOA):c.1498G>A (p.Gly500Ser)
|
rs1028101657
|
0.00002
|
|
NM_000240.4(MAOA):c.330C>T (p.Gly110=)
|
rs748344922
|
0.00002
|
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
|
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)
|
rs63750268
|
0.00002
|
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
|
NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys)
|
rs755818010
|
0.00002
|
|
NM_000251.3(MSH2):c.2061C>G (p.Leu687=)
|
rs63750032
|
0.00002
|
|
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)
|
rs587782396
|
0.00002
|
|
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val)
|
rs587783807
|
0.00002
|
|
NM_000264.5(PTCH1):c.388G>A (p.Val130Met)
|
rs746339472
|
0.00002
|
|
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)
|
rs797045839
|
0.00002
|
|
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)
|
rs753657349
|
0.00002
|
|
NM_000330.4(RS1):c.185-3207G>A
|
rs587783161
|
0.00002
|
|
NM_000341.4(SLC3A1):c.1500+1G>T
|
rs886042834
|
0.00002
|
|
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter)
|
rs9332960
|
0.00002
|
|
NM_000352.6(ABCC8):c.123C>T (p.Phe41=)
|
rs778891891
|
0.00002
|
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
|
NM_000352.6(ABCC8):c.1722C>T (p.Ser574=)
|
rs1471889041
|
0.00002
|
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
|
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
|
NM_000352.6(ABCC8):c.291-3C>T
|
rs764107333
|
0.00002
|
|
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)
|
rs137868047
|
0.00002
|
|
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)
|
rs781090024
|
0.00002
|
|
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly)
|
rs377185303
|
0.00002
|
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
|
NM_000372.5(TYR):c.1037-1G>A
|
rs61754382
|
0.00002
|
|
NM_000381.4(MID1):c.1101C>T (p.Ser367=)
|
rs372570608
|
0.00002
|
|
NM_000383.4(AIRE):c.498G>A (p.Pro166=)
|
rs372169498
|
0.00002
|
|
NM_000384.3(APOB):c.8469T>C (p.Ala2823=)
|
rs531216195
|
0.00002
|
|
NM_000400.4(ERCC2):c.275A>G (p.Asn92Ser)
|
rs780965895
|
0.00002
|
|
NM_000426.4(LAMA2):c.1702A>G (p.Ser568Gly)
|
rs754994339
|
0.00002
|
|
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=)
|
rs371376404
|
0.00002
|
|
NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile)
|
rs769280736
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1408C>T (p.Arg470Cys)
|
rs369885379
|
0.00002
|
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
|
NM_000455.5(STK11):c.1050C>T (p.Asp350=)
|
rs779583262
|
0.00002
|
|
NM_000455.5(STK11):c.828C>T (p.Gly276=)
|
rs200824447
|
0.00002
|
|
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)
|
rs72551349
|
0.00002
|
|
NM_000463.3(UGT1A1):c.72G>A (p.Val24=)
|
rs764918207
|
0.00002
|
|
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)
|
rs72551348
|
0.00002
|
|
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)
|
rs587780037
|
0.00002
|
|
NM_000489.6(ATRX):c.4699+9C>T
|
rs782140505
|
0.00002
|
|
NM_000503.6(EYA1):c.966+8A>G
|
rs190039495
|
0.00002
|
|
NM_000525.4(KCNJ11):c.-291G>T
|
rs1027378927
|
0.00002
|
|
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu)
|
rs756424776
|
0.00002
|
|
NM_000525.4(KCNJ11):c.805G>A (p.Asp269Asn)
|
rs756552714
|
0.00002
|
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
|
NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala)
|
rs587782500
|
0.00002
|
|
NM_000535.7(PMS2):c.2217G>A (p.Leu739=)
|
rs752718686
|
0.00002
|
|
NM_000535.7(PMS2):c.378C>T (p.His126=)
|
rs768488890
|
0.00002
|
|
NM_000535.7(PMS2):c.705+3A>G
|
rs764334813
|
0.00002
|
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
|
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys)
|
rs748140394
|
0.00002
|
|
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=)
|
rs920135778
|
0.00002
|
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
|
NM_000546.6(TP53):c.468C>T (p.Arg156=)
|
rs761222871
|
0.00002
|
|
NM_000546.6(TP53):c.612G>A (p.Glu204=)
|
rs749629973
|
0.00002
|
|
NM_000548.5(TSC2):c.411C>T (p.His137=)
|
rs776129896
|
0.00002
|
|
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu)
|
rs45517335
|
0.00002
|
|
NM_000548.5(TSC2):c.4956C>T (p.Asp1652=)
|
rs1376515823
|
0.00002
|
|
NM_000552.5(VWF):c.4011G>A (p.Pro1337=)
|
rs1800381
|
0.00002
|
|
NM_000760.4(CSF3R):c.1325C>T (p.Pro442Leu)
|
rs948001842
|
0.00002
|
|
NM_000760.4(CSF3R):c.998-3C>T
|
rs753747584
|
0.00002
|
|
NM_001005361.3(DNM2):c.1731G>A (p.Lys577=)
|
rs35365412
|
0.00002
|
|
NM_001008537.3(NEXMIF):c.3319G>A (p.Asp1107Asn)
|
rs751468762
|
0.00002
|
|
NM_001012339.3(DNAJC21):c.279C>T (p.Thr93=)
|
rs541503410
|
0.00002
|
|
NM_001012339.3(DNAJC21):c.50A>G (p.Glu17Gly)
|
rs761693334
|
0.00002
|
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
|
NM_001017975.6(HFM1):c.2819C>T (p.Thr940Ile)
|
rs147392516
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3959A>G (p.His1320Arg)
|
rs746501818
|
0.00002
|
|
NM_001024630.4(RUNX2):c.201G>A (p.Gln67=)
|
rs1251704753
|
0.00002
|
|
NM_001032382.2(PQBP1):c.288T>C (p.Asn96=)
|
rs782360331
|
0.00002
|
|
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)
|
rs759012078
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1436G>T (p.Gly479Val)
|
rs763114190
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His)
|
rs150040573
|
0.00002
|
|
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=)
|
rs368043574
|
0.00002
|
|
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=)
|
rs143065769
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala)
|
rs765909421
|
0.00002
|
|
NM_001040142.2(SCN2A):c.4552-9T>C
|
rs760228082
|
0.00002
|
|
NM_001040616.3(LINS1):c.747G>C (p.Leu249=)
|
rs766380683
|
0.00002
|
|
NM_001040616.3(LINS1):c.848T>A (p.Met283Lys)
|
rs780141210
|
0.00002
|
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
|
NM_001042492.3(NF1):c.4110+4T>C
|
rs587781700
|
0.00002
|
|
NM_001042492.3(NF1):c.7869+6G>A
|
rs864622318
|
0.00002
|
|
NM_001070.5(TUBG1):c.1009T>C (p.Leu337=)
|
rs751960976
|
0.00002
|
|
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr)
|
rs757649304
|
0.00002
|
|
NM_001079872.2(CUL4B):c.288G>A (p.Pro96=)
|
rs984425669
|
0.00002
|
|
NM_001080449.3(DNA2):c.1485A>G (p.Gln495=)
|
rs368855073
|
0.00002
|
|
NM_001080517.3(SETD5):c.693C>T (p.Asn231=)
|
rs754366536
|
0.00002
|
|
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu)
|
rs150387011
|
0.00002
|
|
NM_001083961.2(WDR62):c.1534C>G (p.Arg512Gly)
|
rs201993064
|
0.00002
|
|
NM_001083961.2(WDR62):c.2896G>A (p.Gly966Arg)
|
rs587784550
|
0.00002
|
|
NM_001083961.2(WDR62):c.3066G>A (p.Ser1022=)
|
rs3746269
|
0.00002
|
|
NM_001083961.2(WDR62):c.3514+1G>A
|
rs199736219
|
0.00002
|
|
NM_001083961.2(WDR62):c.3698C>G (p.Ser1233Cys)
|
rs587784560
|
0.00002
|
|
NM_001083961.2(WDR62):c.413G>A (p.Arg138His)
|
rs199673795
|
0.00002
|
|
NM_001083961.2(WDR62):c.4187G>A (p.Arg1396His)
|
rs372272053
|
0.00002
|
|
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg)
|
rs138570124
|
0.00002
|
|
NM_001100.4(ACTA1):c.1104C>T (p.Gly368=)
|
rs755448851
|
0.00002
|
|
NM_001102401.4(TTI2):c.1107C>T (p.Phe369=)
|
rs767068343
|
0.00002
|
|
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr)
|
rs886044859
|
0.00002
|
|
NM_001110556.2(FLNA):c.1580G>A (p.Arg527His)
|
rs782450368
|
0.00002
|
|
NM_001110556.2(FLNA):c.2862T>C (p.Asp954=)
|
rs781808549
|
0.00002
|
|
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)
|
rs782240483
|
0.00002
|
|
NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=)
|
rs781846478
|
0.00002
|
|
NM_001110556.2(FLNA):c.5451G>A (p.Gln1817=)
|
rs782390251
|
0.00002
|
|
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=)
|
rs781929535
|
0.00002
|
|
NM_001110556.2(FLNA):c.7209C>T (p.Asp2403=)
|
rs781906091
|
0.00002
|
|
NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=)
|
rs373103712
|
0.00002
|
|
NM_001110556.2(FLNA):c.841C>G (p.Pro281Ala)
|
rs2067770833
|
0.00002
|
|
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)
|
rs786204313
|
0.00002
|
|
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr)
|
rs267608370
|
0.00002
|
|
NM_001111077.2(EZR):c.1481C>T (p.Ala494Val)
|
rs370434486
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln)
|
rs782632137
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=)
|
rs370573314
|
0.00002
|
|
NM_001113378.2(FANCI):c.3127G>A (p.Val1043Ile)
|
rs757962931
|
0.00002
|
|
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr)
|
rs1313448533
|
0.00002
|
|
NM_001123385.2(BCOR):c.1084G>A (p.Ala362Thr)
|
rs886041140
|
0.00002
|
|
NM_001123385.2(BCOR):c.954C>T (p.Ala318=)
|
rs1341463104
|
0.00002
|
|
NM_001126049.2(KLLN):c.234C>A (p.Leu78=)
|
rs1020308516
|
0.00002
|
|
NM_001126049.2(KLLN):c.384C>T (p.Arg128=)
|
rs1020877920
|
0.00002
|
|
NM_001127208.3(TET2):c.3825G>T (p.Gly1275=)
|
rs372281360
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1038C>T (p.Ile346=)
|
rs527246699
|
0.00002
|
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
|
NM_001128164.2(ATXN1):c.675G>C (p.Gln225His)
|
rs192671844
|
0.00002
|
|
NM_001128840.3(CACNA1D):c.3183C>T (p.Leu1061=)
|
rs1191154650
|
0.00002
|
|
NM_001128840.3(CACNA1D):c.5871+7G>A
|
rs548014277
|
0.00002
|
|
NM_001129820.2(SLFN14):c.1559G>A (p.Ser520Asn)
|
rs556021028
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)
|
rs771906889
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.2543G>A (p.Cys848Tyr)
|
rs779911797
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.3037C>T (p.Leu1013=)
|
rs775262289
|
0.00002
|
|
NM_001134665.3(TRMT10A):c.78G>C (p.Glu26Asp)
|
rs762306819
|
0.00002
|
|
NM_001134665.3(TRMT10A):c.854G>A (p.Cys285Tyr)
|
rs74445102
|
0.00002
|
|
NM_001143992.2(WRAP53):c.1095G>C (p.Gly365=)
|
rs776674391
|
0.00002
|
|
NM_001160372.4(TRAPPC9):c.1693G>A (p.Val565Met)
|
rs551407866
|
0.00002
|
|
NM_001160372.4(TRAPPC9):c.2341C>A (p.Gln781Lys)
|
rs758925630
|
0.00002
|
|
NM_001164508.2(NEB):c.11457G>A (p.Val3819=)
|
rs780152095
|
0.00002
|
|
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)
|
rs183333679
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=)
|
rs797045939
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg)
|
rs773955314
|
0.00002
|
|
NM_001184.4(ATR):c.1626A>G (p.Lys542=)
|
rs762125386
|
0.00002
|
|
NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu)
|
rs587783338
|
0.00002
|
|
NM_001184880.2(PCDH19):c.117T>A (p.Ile39=)
|
rs750597794
|
0.00002
|
|
NM_001184880.2(PCDH19):c.768C>T (p.Pro256=)
|
rs761277974
|
0.00002
|
|
NM_001194998.2(CEP152):c.1158C>T (p.Thr386=)
|
rs771559023
|
0.00002
|
|
NM_001194998.2(CEP152):c.4292T>C (p.Ile1431Thr)
|
rs375113825
|
0.00002
|
|
NM_001194998.2(CEP152):c.540+6G>A
|
rs770422442
|
0.00002
|
|
NM_001194998.2(CEP152):c.60C>T (p.Asp20=)
|
rs759826252
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp)
|
rs574768683
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
|
NM_001205254.2(OCLN):c.1037+1G>A
|
rs748442113
|
0.00002
|
|
NM_001206999.2(CIT):c.2535G>A (p.Lys845=)
|
rs1167179837
|
0.00002
|
|
NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter)
|
rs769350713
|
0.00002
|
|
NM_001244008.2(KIF1A):c.1363G>C (p.Glu455Gln)
|
rs777894370
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3104C>T (p.Ser1035Leu)
|
rs764873243
|
0.00002
|
|
NM_001244008.2(KIF1A):c.3836C>T (p.Thr1279Met)
|
rs755107272
|
0.00002
|
|
NM_001244008.2(KIF1A):c.408C>G (p.Asp136Glu)
|
rs761179236
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4119C>T (p.Ile1373=)
|
rs764237250
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4716C>T (p.His1572=)
|
rs375640417
|
0.00002
|
|
NM_001244008.2(KIF1A):c.4779G>A (p.Pro1593=)
|
rs757313706
|
0.00002
|
|
NM_001244008.2(KIF1A):c.5017G>A (p.Val1673Ile)
|
rs774256831
|
0.00002
|
|
NM_001253852.3(AP4B1):c.670C>T (p.Arg224Cys)
|
rs138216814
|
0.00002
|
|
NM_001261826.3(AP3D1):c.1069C>T (p.Arg357Trp)
|
rs370176164
|
0.00002
|
|
NM_001267550.2(TTN):c.18943G>A (p.Val6315Met)
|
rs770552574
|
0.00002
|
|
NM_001267550.2(TTN):c.2679A>C (p.Glu893Asp)
|
rs770287129
|
0.00002
|
|
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
|
rs746721983
|
0.00002
|
|
NM_001267550.2(TTN):c.29397C>T (p.Gly9799=)
|
rs770084292
|
0.00002
|
|
NM_001267550.2(TTN):c.52010G>A (p.Arg17337Gln)
|
rs775700218
|
0.00002
|
|
NM_001267550.2(TTN):c.58944T>G (p.Cys19648Trp)
|
rs764728016
|
0.00002
|
|
NM_001267550.2(TTN):c.59247C>T (p.Asp19749=)
|
rs587780491
|
0.00002
|
|
NM_001267550.2(TTN):c.82022G>A (p.Arg27341Gln)
|
rs555414240
|
0.00002
|
|
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)
|
rs140025425
|
0.00002
|
|
NM_001271.4(CHD2):c.225C>G (p.Ser75=)
|
rs144667627
|
0.00002
|
|
NM_001271.4(CHD2):c.529G>A (p.Ala177Thr)
|
rs776393356
|
0.00002
|
|
NM_001276270.2(MBD4):c.1366G>A (p.Ala456Thr)
|
rs762115445
|
0.00002
|
|
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=)
|
rs202082978
|
0.00002
|
|
NM_001282531.3(ADNP):c.2600A>G (p.Asn867Ser)
|
rs750479975
|
0.00002
|
|
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg)
|
rs587777037
|
0.00002
|
|
NM_001291303.3(FAT4):c.9696G>A (p.Ala3232=)
|
rs142877205
|
0.00002
|
|
NM_001291415.2(KDM6A):c.2396T>C (p.Leu799Pro)
|
rs753297426
|
0.00002
|
|
NM_001291867.2(NHS):c.3093G>A (p.Thr1031=)
|
rs1157246576
|
0.00002
|
|
NM_001291867.2(NHS):c.4813C>T (p.Arg1605Trp)
|
rs370208884
|
0.00002
|
|
NM_001291867.2(NHS):c.503A>G (p.Gln168Arg)
|
rs769860109
|
0.00002
|
|
NM_001308093.3(GATA4):c.861G>A (p.Ala287=)
|
rs757208344
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
|
rs756986206
|
0.00002
|
|
NM_001330078.2(NRXN1):c.2211G>A (p.Thr737=)
|
rs755177932
|
0.00002
|
|
NM_001330078.2(NRXN1):c.3616A>G (p.Ile1206Val)
|
rs751778015
|
0.00002
|
|
NM_001330574.2(ZNF711):c.1630G>A (p.Val544Ile)
|
rs754789075
|
0.00002
|
|
NM_001353108.3(CEP63):c.1068-1G>A
|
rs752207334
|
0.00002
|
|
NM_001353108.3(CEP63):c.1829G>T (p.Arg610Met)
|
rs375438421
|
0.00002
|
|
NM_001365276.2(TNXB):c.7812C>T (p.Ala2604=)
|
rs375141980
|
0.00002
|
|
NM_001368397.1(FRMPD4):c.1070+7G>A
|
rs760086099
|
0.00002
|
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
|
NM_001371928.1(AHDC1):c.3717G>A (p.Val1239=)
|
rs774259310
|
0.00002
|
|
NM_001374828.1(ARID1B):c.1962C>T (p.Ala654=)
|
rs752755002
|
0.00002
|
|
NM_001374828.1(ARID1B):c.3235+7T>A
|
rs367584953
|
0.00002
|
|
NM_001374828.1(ARID1B):c.4314C>T (p.Ser1438=)
|
rs371872657
|
0.00002
|
|
NM_001374828.1(ARID1B):c.5028G>A (p.Ala1676=)
|
rs776881575
|
0.00002
|
|
NM_001374828.1(ARID1B):c.6049C>T (p.Pro2017Ser)
|
rs774509236
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.13278C>T (p.Asp4426=)
|
rs777098264
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.8724G>A (p.Pro2908=)
|
rs372672149
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val)
|
rs1187943520
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.11489A>G (p.Tyr3830Cys)
|
rs757922501
|
0.00002
|
|
NM_001378120.1(MBD5):c.2561A>G (p.Asn854Ser)
|
rs1358383505
|
0.00002
|
|
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro)
|
rs564759063
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)
|
rs746166271
|
0.00002
|
|
NM_001378454.1(ALMS1):c.12227G>A (p.Arg4076Gln)
|
rs200814417
|
0.00002
|
|
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)
|
rs797045228
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.891T>C (p.Tyr297=)
|
rs797045438
|
0.00002
|
|
NM_001379110.1(SLC9A6):c.370-8T>C
|
rs782106250
|
0.00002
|
|
NM_001379500.1(COL18A1):c.3547C>T (p.Arg1183Cys)
|
rs746594158
|
0.00002
|
|
NM_001382347.1(MYO5A):c.4977G>A (p.Thr1659=)
|
rs527372564
|
0.00002
|
|
NM_001386298.1(CIC):c.3067T>C (p.Leu1023=)
|
rs774513721
|
0.00002
|
|
NM_001430.5(EPAS1):c.1281T>C (p.Tyr427=)
|
rs947956425
|
0.00002
|
|
NM_001493.3(GDI1):c.804G>T (p.Val268=)
|
rs148818881
|
0.00002
|
|
NM_001754.5(RUNX1):c.1415T>C (p.Leu472Pro)
|
rs764689239
|
0.00002
|
|
NM_001754.5(RUNX1):c.65T>A (p.Ile22Lys)
|
rs749430925
|
0.00002
|
|
NM_001807.6(CEL):c.1333C>G (p.Pro445Ala)
|
rs751702926
|
0.00002
|
|
NM_001807.6(CEL):c.400G>A (p.Gly134Ser)
|
rs377284693
|
0.00002
|
|
NM_001813.3(CENPE):c.5137A>G (p.Ile1713Val)
|
rs921819934
|
0.00002
|
|
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys)
|
rs570688674
|
0.00002
|
|
NM_001905.4(CTPS1):c.1269G>A (p.Glu423=)
|
rs780304885
|
0.00002
|
|
NM_001972.4(ELANE):c.223G>A (p.Val75Ile)
|
rs200998348
|
0.00002
|
|
NM_001972.4(ELANE):c.556G>A (p.Val186Ile)
|
rs140642538
|
0.00002
|
|
NM_001987.5(ETV6):c.116G>A (p.Arg39Gln)
|
rs144209028
|
0.00002
|
|
NM_002024.6(FMR1):c.225G>A (p.Glu75=)
|
rs1300382870
|
0.00002
|
|
NM_002025.4(AFF2):c.2427A>G (p.Leu809=)
|
rs782571214
|
0.00002
|
|
NM_002291.3(LAMB1):c.3834C>T (p.Ser1278=)
|
rs1389549765
|
0.00002
|
|
NM_002397.5(MEF2C):c.810+10A>T
|
rs587783748
|
0.00002
|
|
NM_002435.3(MPI):c.1123G>C (p.Gly375Arg)
|
rs148707185
|
0.00002
|
|
NM_002470.4(MYH3):c.3449G>A (p.Arg1150Gln)
|
rs752339755
|
0.00002
|
|
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys)
|
rs539740208
|
0.00002
|
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
|
NM_002519.3(NPAT):c.3088A>G (p.Lys1030Glu)
|
rs770282833
|
0.00002
|
|
NM_002519.3(NPAT):c.3143C>T (p.Pro1048Leu)
|
rs1001338894
|
0.00002
|
|
NM_002519.3(NPAT):c.3346A>G (p.Lys1116Glu)
|
rs370946900
|
0.00002
|
|
NM_002519.3(NPAT):c.3857T>C (p.Ile1286Thr)
|
rs779276672
|
0.00002
|
|
NM_002547.3(OPHN1):c.1126A>G (p.Lys376Glu)
|
rs797045849
|
0.00002
|
|
NM_002547.3(OPHN1):c.333G>A (p.Leu111=)
|
rs765654561
|
0.00002
|
|
NM_002582.4(PARN):c.1192+7A>G
|
rs766337795
|
0.00002
|
|
NM_002582.4(PARN):c.453A>T (p.Ser151=)
|
rs911902351
|
0.00002
|
|
NM_002666.5(PLIN1):c.309C>T (p.Pro103=)
|
rs766818918
|
0.00002
|
|
NM_002691.4(POLD1):c.1174G>A (p.Val392Met)
|
rs778843530
|
0.00002
|
|
NM_002691.4(POLD1):c.202G>A (p.Gly68Arg)
|
rs772866918
|
0.00002
|
|
NM_002734.5(PRKAR1A):c.675C>A (p.Gly225=)
|
rs150244650
|
0.00002
|
|
NM_002739.5(PRKCG):c.1858G>A (p.Glu620Lys)
|
rs1177582167
|
0.00002
|
|
NM_002816.5(PSMD12):c.1152A>G (p.Leu384=)
|
rs770341629
|
0.00002
|
|
NM_002948.5(RPL15):c.612C>T (p.Arg204=)
|
rs1317196774
|
0.00002
|
|
NM_003002.4(SDHD):c.116C>T (p.Pro39Leu)
|
rs752689382
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3894C>T (p.Asp1298=)
|
rs373041389
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4593C>T (p.Leu1531=)
|
rs757189400
|
0.00002
|
|
NM_003073.5(SMARCB1):c.1098C>T (p.Arg366=)
|
rs562018506
|
0.00002
|
|
NM_003073.5(SMARCB1):c.672C>T (p.Asp224=)
|
rs748952582
|
0.00002
|
|
NM_003179.3(SYP):c.801C>T (p.Ser267=)
|
rs1337500813
|
0.00002
|
|
NM_003356.4(UCP3):c.274G>A (p.Ala92Thr)
|
rs192655642
|
0.00002
|
|
NM_003383.5(VLDLR):c.292G>A (p.Glu98Lys)
|
rs200596776
|
0.00002
|
|
NM_003482.4(KMT2D):c.11342G>A (p.Ser3781Asn)
|
rs368670448
|
0.00002
|
|
NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val)
|
rs797045657
|
0.00002
|
|
NM_003482.4(KMT2D):c.6501G>A (p.Val2167=)
|
rs751139032
|
0.00002
|
|
NM_003560.4(PLA2G6):c.1348+9C>T
|
rs587784328
|
0.00002
|
|
NM_003560.4(PLA2G6):c.1591+8C>T
|
rs200032947
|
0.00002
|
|
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)
|
rs121908681
|
0.00002
|
|
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)
|
rs587784349
|
0.00002
|
|
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln)
|
rs368207952
|
0.00002
|
|
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu)
|
rs754615597
|
0.00002
|
|
NM_003619.4(PRSS12):c.537T>C (p.Phe179=)
|
rs746612696
|
0.00002
|
|
NM_003664.5(AP3B1):c.2700C>T (p.Val900=)
|
rs756834284
|
0.00002
|
|
NM_003896.4(ST3GAL5):c.1059C>T (p.Cys353=)
|
rs149801673
|
0.00002
|
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
|
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln)
|
rs387906828
|
0.00002
|
|
NM_004187.5(KDM5C):c.999G>A (p.Gly333=)
|
rs782077457
|
0.00002
|
|
NM_004260.4(RECQL4):c.1493C>T (p.Thr498Met)
|
rs376587038
|
0.00002
|
|
NM_004260.4(RECQL4):c.3375C>T (p.Pro1125=)
|
rs749208991
|
0.00002
|
|
NM_004304.5(ALK):c.920_922dup (p.Pro307_Gly308insAla)
|
rs746818719
|
0.00002
|
|
NM_004360.5(CDH1):c.1178T>A (p.Ile393Asn)
|
rs34466743
|
0.00002
|
|
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)
|
rs587780117
|
0.00002
|
|
NM_004360.5(CDH1):c.2098C>A (p.Pro700Thr)
|
rs878854681
|
0.00002
|
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
|
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala)
|
rs1162371435
|
0.00002
|
|
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr)
|
rs905662421
|
0.00002
|
|
NM_004380.3(CREBBP):c.1331-4A>G
|
rs756291909
|
0.00002
|
|
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)
|
rs587783474
|
0.00002
|
|
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp)
|
rs774653315
|
0.00002
|
|
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val)
|
rs182347573
|
0.00002
|
|
NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser)
|
rs368597067
|
0.00002
|
|
NM_004456.5(EZH2):c.930T>G (p.Thr310=)
|
rs754379530
|
0.00002
|
|
NM_004484.4(GPC3):c.693G>A (p.Gln231=)
|
rs768782219
|
0.00002
|
|
NM_004525.3(LRP2):c.39C>T (p.Leu13=)
|
rs529649802
|
0.00002
|
|
NM_004525.3(LRP2):c.910G>A (p.Gly304Arg)
|
rs570052630
|
0.00002
|
|
NM_004586.3(RPS6KA3):c.1444-5T>C
|
rs781136878
|
0.00002
|
|
NM_004629.2(FANCG):c.583T>C (p.Leu195=)
|
rs370461759
|
0.00002
|
|
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn)
|
rs745833004
|
0.00002
|
|
NM_004655.4(AXIN2):c.1976G>A (p.Arg659Gln)
|
rs730881400
|
0.00002
|
|
NM_004826.4(ECEL1):c.1507-9G>A
|
rs797045548
|
0.00002
|
|
NM_004830.4(MED23):c.4013T>C (p.Met1338Thr)
|
rs771693452
|
0.00002
|
|
NM_004933.3(CDH15):c.1748G>A (p.Gly583Asp)
|
rs935997767
|
0.00002
|
|
NM_004933.3(CDH15):c.280G>A (p.Val94Ile)
|
rs369126978
|
0.00002
|
|
NM_004933.3(CDH15):c.402C>T (p.Asp134=)
|
rs777715571
|
0.00002
|
|
NM_004959.5(NR5A1):c.460G>A (p.Ala154Thr)
|
rs761496130
|
0.00002
|
|
NM_004991.4(MECOM):c.2415C>T (p.Val805=)
|
rs756402551
|
0.00002
|
|
NM_004991.4(MECOM):c.3446A>G (p.His1149Arg)
|
rs779967808
|
0.00002
|
|
NM_005045.4(RELN):c.5832C>T (p.Phe1944=)
|
rs767598814
|
0.00002
|
|
NM_005045.4(RELN):c.6213C>T (p.Thr2071=)
|
rs554215103
|
0.00002
|
|
NM_005120.3(MED12):c.1363C>T (p.Arg455Trp)
|
rs1268612180
|
0.00002
|
|
NM_005120.3(MED12):c.1807C>T (p.Leu603=)
|
rs797045696
|
0.00002
|
|
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys)
|
rs202120461
|
0.00002
|
|
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp)
|
rs761245258
|
0.00002
|
|
NM_005188.4(CBL):c.698A>G (p.Asn233Ser)
|
rs143276937
|
0.00002
|
|
NM_005236.3(ERCC4):c.2607C>T (p.His869=)
|
rs769736716
|
0.00002
|
|
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)
|
rs371411952
|
0.00002
|
|
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=)
|
rs782332238
|
0.00002
|
|
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)
|
rs781788935
|
0.00002
|
|
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=)
|
rs782063013
|
0.00002
|
|
NM_005373.3(MPL):c.775G>A (p.Glu259Lys)
|
rs528834914
|
0.00002
|
|
NM_005431.2(XRCC2):c.264T>C (p.Asp88=)
|
rs769940007
|
0.00002
|
|
NM_005431.2(XRCC2):c.582G>A (p.Thr194=)
|
rs769829135
|
0.00002
|
|
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr)
|
rs149099078
|
0.00002
|
|
NM_005559.4(LAMA1):c.8315G>A (p.Arg2772His)
|
rs548903685
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1627G>A (p.Glu543Lys)
|
rs782028471
|
0.00002
|
|
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)
|
rs1233444890
|
0.00002
|
|
NM_005654.6(NR2F1):c.1212C>T (p.Arg404=)
|
rs761244180
|
0.00002
|
|
NM_005886.3(KATNB1):c.618C>T (p.Ser206=)
|
rs1348215015
|
0.00002
|
|
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)
|
rs201239579
|
0.00002
|
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
|
NM_006009.4(TUBA1A):c.1203A>G (p.Lys401=)
|
rs1065724
|
0.00002
|
|
NM_006015.6(ARID1A):c.1892G>C (p.Ser631Thr)
|
rs748512916
|
0.00002
|
|
NM_006015.6(ARID1A):c.4777C>T (p.Arg1593Trp)
|
rs201556442
|
0.00002
|
|
NM_006015.6(ARID1A):c.6785C>T (p.Ser2262Leu)
|
rs375849292
|
0.00002
|
|
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter)
|
rs181690344
|
0.00002
|
|
NM_006031.6(PCNT):c.1775G>A (p.Arg592His)
|
rs754798472
|
0.00002
|
|
NM_006031.6(PCNT):c.1849G>C (p.Glu617Gln)
|
rs747165033
|
0.00002
|
|
NM_006031.6(PCNT):c.2347dup (p.Gln783fs)
|
rs766116729
|
0.00002
|
|
NM_006031.6(PCNT):c.2602C>T (p.Arg868Trp)
|
rs775482294
|
0.00002
|
|
NM_006031.6(PCNT):c.2681A>G (p.Gln894Arg)
|
rs763483779
|
0.00002
|
|
NM_006031.6(PCNT):c.2865C>T (p.Ala955=)
|
rs540548340
|
0.00002
|
|
NM_006031.6(PCNT):c.2899A>G (p.Ser967Gly)
|
rs145451194
|
0.00002
|
|
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg)
|
rs761299168
|
0.00002
|
|
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter)
|
rs1359618876
|
0.00002
|
|
NM_006031.6(PCNT):c.4093C>T (p.Leu1365=)
|
rs765239781
|
0.00002
|
|
NM_006031.6(PCNT):c.4230A>G (p.Glu1410=)
|
rs774962506
|
0.00002
|
|
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys)
|
rs200606073
|
0.00002
|
|
NM_006031.6(PCNT):c.4356G>T (p.Gly1452=)
|
rs776946965
|
0.00002
|
|
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=)
|
rs61735807
|
0.00002
|
|
NM_006031.6(PCNT):c.4929G>C (p.Val1643=)
|
rs569351854
|
0.00002
|
|
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter)
|
rs757577162
|
0.00002
|
|
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro)
|
rs772025323
|
0.00002
|
|
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys)
|
rs148485670
|
0.00002
|
|
NM_006031.6(PCNT):c.7632G>A (p.Thr2544=)
|
rs541260181
|
0.00002
|
|
NM_006031.6(PCNT):c.7988G>A (p.Arg2663His)
|
rs778334017
|
0.00002
|
|
NM_006031.6(PCNT):c.8659G>A (p.Gly2887Arg)
|
rs797045881
|
0.00002
|
|
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=)
|
rs554275370
|
0.00002
|
|
NM_006059.4(LAMC3):c.1907G>A (p.Arg636His)
|
rs753991024
|
0.00002
|
|
NM_006059.4(LAMC3):c.1978C>T (p.Arg660Trp)
|
rs374264939
|
0.00002
|
|
NM_006059.4(LAMC3):c.3019G>A (p.Gly1007Ser)
|
rs141105450
|
0.00002
|
|
NM_006080.3(SEMA3A):c.1256G>A (p.Arg419His)
|
rs140701193
|
0.00002
|
|
NM_006118.4(HAX1):c.206C>G (p.Pro69Arg)
|
rs370342620
|
0.00002
|
|
NM_006118.4(HAX1):c.317-4G>T
|
rs368305272
|
0.00002
|
|
NM_006118.4(HAX1):c.423T>C (p.Phe141=)
|
rs200778148
|
0.00002
|
|
NM_006180.6(NTRK2):c.464A>G (p.Asp155Gly)
|
rs760215602
|
0.00002
|
|
NM_006231.4(POLE):c.6328A>G (p.Lys2110Glu)
|
rs746736600
|
0.00002
|
|
NM_006231.4(POLE):c.6432C>T (p.Phe2144=)
|
rs775605353
|
0.00002
|
|
NM_006265.3(RAD21):c.93T>C (p.His31=)
|
rs761516272
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.1091A>G (p.Lys364Arg)
|
rs779300816
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.594C>T (p.Asp198=)
|
rs199996868
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.990C>T (p.Asn330=)
|
rs773763812
|
0.00002
|
|
NM_006306.4(SMC1A):c.1254+4G>A
|
rs781824288
|
0.00002
|
|
NM_006306.4(SMC1A):c.3618+7C>T
|
rs782267492
|
0.00002
|
|
NM_006420.3(ARFGEF2):c.103G>A (p.Ala35Thr)
|
rs906585026
|
0.00002
|
|
NM_006420.3(ARFGEF2):c.3112C>T (p.Leu1038Phe)
|
rs766069204
|
0.00002
|
|
NM_006420.3(ARFGEF2):c.3593C>T (p.Thr1198Ile)
|
rs1212143011
|
0.00002
|
|
NM_006420.3(ARFGEF2):c.3843C>T (p.Ala1281=)
|
rs748858379
|
0.00002
|
|
NM_006420.3(ARFGEF2):c.4320T>C (p.Asn1440=)
|
rs758848307
|
0.00002
|
|
NM_006420.3(ARFGEF2):c.4715C>T (p.Thr1572Met)
|
rs766756267
|
0.00002
|
|
NM_006734.4(HIVEP2):c.5853C>T (p.Gly1951=)
|
rs150164040
|
0.00002
|
|
NM_006765.4(TUSC3):c.1028+8C>G
|
rs587780496
|
0.00002
|
|
NM_006772.3(SYNGAP1):c.3303C>T (p.Pro1101=)
|
rs776355446
|
0.00002
|
|
NM_006910.5(RBBP6):c.2722C>A (p.His908Asn)
|
rs771282999
|
0.00002
|
|
NM_006946.4(SPTBN2):c.91T>C (p.Ser31Pro)
|
rs373669452
|
0.00002
|
|
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser)
|
rs771786550
|
0.00002
|
|
NM_007059.4(KPTN):c.823G>A (p.Val275Met)
|
rs373073023
|
0.00002
|
|
NM_007137.5(ZNF81):c.12C>T (p.Asn4=)
|
rs376023206
|
0.00002
|
|
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr)
|
rs774179198
|
0.00002
|
|
NM_007194.4(CHEK2):c.428A>G (p.His143Arg)
|
rs587782300
|
0.00002
|
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
|
NM_007194.4(CHEK2):c.592+9A>G
|
rs538351542
|
0.00002
|
|
NM_007254.4(PNKP):c.1418C>T (p.Pro473Leu)
|
rs200014111
|
0.00002
|
|
NM_007259.5(VPS45):c.1467T>C (p.Tyr489=)
|
rs150044678
|
0.00002
|
|
NM_007294.4(BRCA1):c.*1358A>G
|
rs1289329363
|
0.00002
|
|
NM_007294.4(BRCA1):c.*954A>C
|
rs954025741
|
0.00002
|
|
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr)
|
rs80357036
|
0.00002
|
|
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)
|
rs80356968
|
0.00002
|
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
0.00002
|
|
NM_012156.2(EPB41L1):c.1180C>T (p.Arg394Trp)
|
rs756672064
|
0.00002
|
|
NM_012216.4(MID2):c.1428G>A (p.Ala476=)
|
rs534271877
|
0.00002
|
|
NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile)
|
rs587780389
|
0.00002
|
|
NM_012309.5(SHANK2):c.4130C>T (p.Ala1377Val)
|
rs782311249
|
0.00002
|
|
NM_012414.4(RAB3GAP2):c.1792A>C (p.Ile598Leu)
|
rs587780427
|
0.00002
|
|
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val)
|
rs201613456
|
0.00002
|
|
NM_013275.6(ANKRD11):c.5898C>T (p.Thr1966=)
|
rs140586593
|
0.00002
|
|
NM_013382.7(POMT2):c.1006+5G>A
|
rs587780422
|
0.00002
|
|
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)
|
rs587780423
|
0.00002
|
|
NM_014008.5(CCDC22):c.1207C>T (p.Leu403=)
|
rs782089419
|
0.00002
|
|
NM_014008.5(CCDC22):c.81C>T (p.Arg27=)
|
rs370789286
|
0.00002
|
|
NM_014009.4(FOXP3):c.157G>A (p.Gly53Arg)
|
rs587780340
|
0.00002
|
|
NM_014026.6(DCPS):c.880C>T (p.Arg294Trp)
|
rs759966901
|
0.00002
|
|
NM_014043.4(CHMP2B):c.376C>T (p.Gln126Ter)
|
rs1203007423
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.1173C>G (p.Asn391Lys)
|
rs796052370
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.1848T>C (p.Pro616=)
|
rs750082302
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=)
|
rs778124698
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.3235G>A (p.Val1079Ile)
|
rs529269450
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.3791T>C (p.Ile1264Thr)
|
rs376316135
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.3918C>T (p.Ser1306=)
|
rs774029348
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.634A>G (p.Ile212Val)
|
rs751076079
|
0.00002
|
|
NM_014159.7(SETD2):c.1798T>G (p.Leu600Val)
|
rs372547666
|
0.00002
|
|
NM_014159.7(SETD2):c.2988A>G (p.Ser996=)
|
rs772906890
|
0.00002
|
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
|
NM_014467.3(SRPX2):c.1294A>G (p.Met432Val)
|
rs587780466
|
0.00002
|
|
NM_014795.4(ZEB2):c.220G>A (p.Val74Met)
|
rs767169568
|
0.00002
|
|
NM_014795.4(ZEB2):c.2352T>C (p.Ser784=)
|
rs201990887
|
0.00002
|
|
NM_014795.4(ZEB2):c.309A>G (p.Leu103=)
|
rs187331667
|
0.00002
|
|
NM_014915.3(ANKRD26):c.112C>T (p.Pro38Ser)
|
rs374871257
|
0.00002
|
|
NM_014915.3(ANKRD26):c.1153A>G (p.Thr385Ala)
|
rs375318218
|
0.00002
|
|
NM_014915.3(ANKRD26):c.1208-3T>C
|
rs201101040
|
0.00002
|
|
NM_014915.3(ANKRD26):c.2162-12T>C
|
rs773945543
|
0.00002
|
|
NM_014915.3(ANKRD26):c.3704A>T (p.Gln1235Leu)
|
rs765506121
|
0.00002
|
|
NM_014915.3(ANKRD26):c.4724+11A>G
|
rs772539619
|
0.00002
|
|
NM_014915.3(ANKRD26):c.4876A>C (p.Ile1626Leu)
|
rs372371136
|
0.00002
|
|
NM_014946.4(SPAST):c.1813A>G (p.Ile605Val)
|
rs372900676
|
0.00002
|
|
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)
|
rs773193617
|
0.00002
|
|
NM_015080.4(NRXN2):c.3965C>T (p.Ala1322Val)
|
rs375639642
|
0.00002
|
|
NM_015175.3(NBEAL2):c.2940C>T (p.Ile980=)
|
rs748390322
|
0.00002
|
|
NM_015214.3(DDHD2):c.375T>C (p.Tyr125=)
|
rs201640343
|
0.00002
|
|
NM_015215.4(CAMTA1):c.1015A>G (p.Ser339Gly)
|
rs764746988
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2038C>T (p.Leu680Phe)
|
rs758370789
|
0.00002
|
|
NM_015450.3(POT1):c.1164-1G>A
|
rs866612394
|
0.00002
|
|
NM_015450.3(POT1):c.747A>G (p.Gln249=)
|
rs35361862
|
0.00002
|
|
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys)
|
rs1036729851
|
0.00002
|
|
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val)
|
rs121918311
|
0.00002
|
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
|
NM_016219.5(MAN1B1):c.1764+9G>C
|
rs377406887
|
0.00002
|
|
NM_016219.5(MAN1B1):c.719A>G (p.Gln240Arg)
|
rs587780390
|
0.00002
|
|
NM_016219.5(MAN1B1):c.776A>G (p.His259Arg)
|
rs201673635
|
0.00002
|
|
NM_016222.4(DDX41):c.*194A>G
|
rs750795230
|
0.00002
|
|
NM_016222.4(DDX41):c.1187T>C (p.Ile396Thr)
|
rs747072227
|
0.00002
|
|
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp)
|
rs371460149
|
0.00002
|
|
NM_016222.4(DDX41):c.766G>A (p.Glu256Lys)
|
rs746011550
|
0.00002
|
|
NM_016222.4(DDX41):c.773C>T (p.Pro258Leu)
|
rs1289634533
|
0.00002
|
|
NM_016302.4(CRBN):c.1148+9A>G
|
rs372938485
|
0.00002
|
|
NM_016373.4(WWOX):c.919C>G (p.Leu307Val)
|
rs200320711
|
0.00002
|
|
NM_016729.3(FOLR1):c.447C>T (p.Ser149=)
|
rs191657981
|
0.00002
|
|
NM_016734.3(PAX5):c.234C>T (p.Ile78=)
|
rs139492230
|
0.00002
|
|
NM_016734.3(PAX5):c.700C>T (p.Leu234=)
|
rs756603249
|
0.00002
|
|
NM_016734.3(PAX5):c.822G>A (p.Leu274=)
|
rs149708683
|
0.00002
|
|
NM_017654.4(SAMD9):c.1191A>G (p.Leu397=)
|
rs1791604504
|
0.00002
|
|
NM_017654.4(SAMD9):c.209T>A (p.Leu70Gln)
|
rs550190460
|
0.00002
|
|
NM_017654.4(SAMD9):c.2116G>T (p.Val706Phe)
|
rs532883519
|
0.00002
|
|
NM_017654.4(SAMD9):c.2278T>C (p.Cys760Arg)
|
rs765380924
|
0.00002
|
|
NM_017654.4(SAMD9):c.346G>C (p.Gly116Arg)
|
rs763877299
|
0.00002
|
|
NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu)
|
rs371510515
|
0.00002
|
|
NM_017654.4(SAMD9):c.3725C>T (p.Pro1242Leu)
|
rs201492733
|
0.00002
|
|
NM_017654.4(SAMD9):c.87C>A (p.Asp29Glu)
|
rs758063917
|
0.00002
|
|
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser)
|
rs140846775
|
0.00002
|
|
NM_017755.6(NSUN2):c.1223G>A (p.Arg408Gln)
|
rs1056148130
|
0.00002
|
|
NM_017755.6(NSUN2):c.174G>A (p.Val58=)
|
rs745966593
|
0.00002
|
|
NM_017757.3(ZNF407):c.3021C>T (p.Ser1007=)
|
rs372408214
|
0.00002
|
|
NM_017757.3(ZNF407):c.3675G>A (p.Glu1225=)
|
rs200667048
|
0.00002
|
|
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys)
|
rs559966703
|
0.00002
|
|
NM_017777.4(MKS1):c.644+9C>T
|
rs754404940
|
0.00002
|
|
NM_017780.4(CHD7):c.4774C>T (p.Arg1592Trp)
|
rs773187713
|
0.00002
|
|
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=)
|
rs587783449
|
0.00002
|
|
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)
|
rs554647169
|
0.00002
|
|
NM_017780.4(CHD7):c.7009C>T (p.Arg2337Cys)
|
rs765610436
|
0.00002
|
|
NM_017838.4(NHP2):c.289_290del (p.Met97fs)
|
rs762821341
|
0.00002
|
|
NM_017849.4(TMEM127):c.253A>G (p.Met85Val)
|
rs771261665
|
0.00002
|
|
NM_018013.4(SOBP):c.2291C>T (p.Ala764Val)
|
rs372864608
|
0.00002
|
|
NM_018026.4(PACS1):c.1737G>A (p.Val579=)
|
rs773764695
|
0.00002
|
|
NM_018026.4(PACS1):c.684C>T (p.Gly228=)
|
rs548594376
|
0.00002
|
|
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln)
|
rs121918207
|
0.00002
|
|
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs)
|
rs587783220
|
0.00002
|
|
NM_018136.5(ASPM):c.2419+2T>C
|
rs587783225
|
0.00002
|
|
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)
|
rs587783227
|
0.00002
|
|
NM_018136.5(ASPM):c.309A>G (p.Lys103=)
|
rs587783229
|
0.00002
|
|
NM_018136.5(ASPM):c.3320A>G (p.Glu1107Gly)
|
rs377348290
|
0.00002
|
|
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys)
|
rs199874115
|
0.00002
|
|
NM_018136.5(ASPM):c.489A>G (p.Thr163=)
|
rs372355541
|
0.00002
|
|
NM_018136.5(ASPM):c.5849C>T (p.Ala1950Val)
|
rs368693433
|
0.00002
|
|
NM_018136.5(ASPM):c.6058A>G (p.Thr2020Ala)
|
rs587783253
|
0.00002
|
|
NM_018136.5(ASPM):c.7841A>G (p.Asp2614Gly)
|
rs587783273
|
0.00002
|
|
NM_018136.5(ASPM):c.7858C>A (p.Gln2620Lys)
|
rs587783274
|
0.00002
|
|
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val)
|
rs372416792
|
0.00002
|
|
NM_018249.6(CDK5RAP2):c.1340G>A (p.Arg447His)
|
rs777203757
|
0.00002
|
|
NM_018249.6(CDK5RAP2):c.4310T>C (p.Ile1437Thr)
|
rs375065457
|
0.00002
|
|
NM_018451.5(CENPJ):c.535C>T (p.Leu179Phe)
|
rs149841677
|
0.00002
|
|
NM_019892.6(INPP5E):c.1544G>A (p.Arg515Gln)
|
rs752106876
|
0.00002
|
|
NM_019892.6(INPP5E):c.1732G>A (p.Gly578Arg)
|
rs559636009
|
0.00002
|
|
NM_020066.5(FMN2):c.1208C>T (p.Pro403Leu)
|
rs762357829
|
0.00002
|
|
NM_020066.5(FMN2):c.699A>C (p.Ala233=)
|
rs1198518631
|
0.00002
|
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
|
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)
|
rs140246430
|
0.00002
|
|
NM_020461.4(TUBGCP6):c.3451G>A (p.Val1151Met)
|
rs750851968
|
0.00002
|
|
NM_020461.4(TUBGCP6):c.5161G>A (p.Val1721Ile)
|
rs377506638
|
0.00002
|
|
NM_020639.3(RIPK4):c.2211C>T (p.Ser737=)
|
rs140415395
|
0.00002
|
|
NM_020699.4(GATAD2B):c.1271G>A (p.Arg424His)
|
rs375391021
|
0.00002
|
|
NM_020717.5(SHROOM4):c.2896-17A>G
|
rs540437538
|
0.00002
|
|
NM_020717.5(SHROOM4):c.3140C>G (p.Ala1047Gly)
|
rs781946911
|
0.00002
|
|
NM_020717.5(SHROOM4):c.747C>T (p.Thr249=)
|
rs1458167810
|
0.00002
|
|
NM_020717.5(SHROOM4):c.917C>T (p.Pro306Leu)
|
rs782624710
|
0.00002
|
|
NM_020779.4(WDR35):c.1435A>G (p.Met479Val)
|
rs797046099
|
0.00002
|
|
NM_020831.6(MRTFA):c.2215C>G (p.Gln739Glu)
|
rs763913389
|
0.00002
|
|
NM_020921.4(NIN):c.5264C>T (p.Ala1755Val)
|
rs758555048
|
0.00002
|
|
NM_020937.4(FANCM):c.5208G>A (p.Leu1736=)
|
rs746368298
|
0.00002
|
|
NM_020944.3(GBA2):c.515G>A (p.Arg172His)
|
rs200268523
|
0.00002
|
|
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter)
|
rs587776942
|
0.00002
|
|
NM_020975.6(RET):c.1084C>A (p.Leu362Ile)
|
rs773935854
|
0.00002
|
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
|
NM_020975.6(RET):c.1523-5T>C
|
rs1373899196
|
0.00002
|
|
NM_020975.6(RET):c.2802-11A>T
|
rs1220802134
|
0.00002
|
|
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile)
|
rs200021472
|
0.00002
|
|
NM_020975.6(RET):c.3233C>T (p.Thr1078Met)
|
rs762952212
|
0.00002
|
|
NM_020987.5(ANK3):c.429A>G (p.Pro143=)
|
rs776144867
|
0.00002
|
|
NM_020987.5(ANK3):c.5762C>G (p.Thr1921Arg)
|
rs544709673
|
0.00002
|
|
NM_020987.5(ANK3):c.8883C>T (p.Pro2961=)
|
rs765123203
|
0.00002
|
|
NM_020987.5(ANK3):c.9352A>G (p.Ile3118Val)
|
rs374913530
|
0.00002
|
|
NM_020987.5(ANK3):c.9706G>A (p.Val3236Met)
|
rs747043475
|
0.00002
|
|
NM_021008.4(DEAF1):c.219C>A (p.Pro73=)
|
rs758787132
|
0.00002
|
|
NM_021120.4(DLG3):c.1281C>T (p.Arg427=)
|
rs1473465948
|
0.00002
|
|
NM_021120.4(DLG3):c.2438C>T (p.Ser813Phe)
|
rs140208240
|
0.00002
|
|
NM_021956.5(GRIK2):c.2621G>A (p.Arg874Gln)
|
rs267600750
|
0.00002
|
|
NM_022081.6(HPS4):c.2079C>T (p.Ser693=)
|
rs138189133
|
0.00002
|
|
NM_022095.4(ZNF335):c.2460G>A (p.Ser820=)
|
rs774396968
|
0.00002
|
|
NM_022095.4(ZNF335):c.2611C>T (p.Leu871=)
|
rs369981721
|
0.00002
|
|
NM_022095.4(ZNF335):c.2653A>G (p.Thr885Ala)
|
rs200004418
|
0.00002
|
|
NM_022455.5(NSD1):c.1495G>A (p.Ala499Thr)
|
rs587784075
|
0.00002
|
|
NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu)
|
rs1406037834
|
0.00002
|
|
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=)
|
rs587784136
|
0.00002
|
|
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)
|
rs147033795
|
0.00002
|
|
NM_022725.4(FANCF):c.279C>T (p.Leu93=)
|
rs199578614
|
0.00002
|
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
|
NM_024301.5(FKRP):c.483C>T (p.Ala161=)
|
rs797045576
|
0.00002
|
|
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser)
|
rs61788900
|
0.00002
|
|
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser)
|
rs587783733
|
0.00002
|
|
NM_024596.5(MCPH1):c.1630C>G (p.Pro544Ala)
|
rs1295124257
|
0.00002
|
|
NM_024596.5(MCPH1):c.2136G>T (p.Trp712Cys)
|
rs778229284
|
0.00002
|
|
NM_024598.4(USB1):c.214C>T (p.Arg72Cys)
|
rs567360825
|
0.00002
|
|
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr)
|
rs768098877
|
0.00002
|
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
rs786201088
|
0.00002
|
|
NM_024675.4(PALB2):c.2319T>C (p.Thr773=)
|
rs562168734
|
0.00002
|
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
|
NM_024747.6(HPS6):c.1817G>A (p.Arg606His)
|
rs780449497
|
0.00002
|
|
NM_024757.5(EHMT1):c.1107G>A (p.Ala369=)
|
rs540617218
|
0.00002
|
|
NM_024757.5(EHMT1):c.183C>T (p.Ser61=)
|
rs774448433
|
0.00002
|
|
NM_024757.5(EHMT1):c.3105C>T (p.Pro1035=)
|
rs763284674
|
0.00002
|
|
NM_024757.5(EHMT1):c.797A>G (p.Tyr266Cys)
|
rs753105081
|
0.00002
|
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
|
NM_024824.5(ZC3H14):c.1522G>A (p.Val508Ile)
|
rs535112396
|
0.00002
|
|
NM_024824.5(ZC3H14):c.1563G>A (p.Thr521=)
|
rs778584454
|
0.00002
|
|
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=)
|
rs564306903
|
0.00002
|
|
NM_024989.4(PGAP1):c.44T>C (p.Val15Ala)
|
rs373419311
|
0.00002
|
|
NM_025074.7(FRAS1):c.11695C>T (p.Leu3899=)
|
rs367723684
|
0.00002
|
|
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys)
|
rs376349076
|
0.00002
|
|
NM_025099.6(CTC1):c.363G>A (p.Ser121=)
|
rs770555372
|
0.00002
|
|
NM_025114.4(CEP290):c.3056A>G (p.Glu1019Gly)
|
rs746666486
|
0.00002
|
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
|
NM_025114.4(CEP290):c.563A>T (p.Asp188Val)
|
rs746511786
|
0.00002
|
|
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=)
|
rs766265410
|
0.00002
|
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
|
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln)
|
rs768303307
|
0.00002
|
|
NM_030632.3(ASXL3):c.5386G>A (p.Val1796Ile)
|
rs755015351
|
0.00002
|
|
NM_030632.3(ASXL3):c.5819G>A (p.Gly1940Asp)
|
rs751032091
|
0.00002
|
|
NM_030665.4(RAI1):c.2700C>T (p.Thr900=)
|
rs370400740
|
0.00002
|
|
NM_030665.4(RAI1):c.3146C>T (p.Ser1049Leu)
|
rs755152385
|
0.00002
|
|
NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val)
|
rs368975225
|
0.00002
|
|
NM_030665.4(RAI1):c.4096C>T (p.Arg1366Cys)
|
rs375295086
|
0.00002
|
|
NM_030665.4(RAI1):c.5264C>A (p.Pro1755His)
|
rs750872928
|
0.00002
|
|
NM_030928.4(CDT1):c.738C>T (p.Ser246=)
|
rs200892812
|
0.00002
|
|
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val)
|
rs781928056
|
0.00002
|
|
NM_031407.7(HUWE1):c.10614G>A (p.Thr3538=)
|
rs138042974
|
0.00002
|
|
NM_031407.7(HUWE1):c.10898C>T (p.Thr3633Ile)
|
rs781873282
|
0.00002
|
|
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=)
|
rs782115290
|
0.00002
|
|
NM_031407.7(HUWE1):c.1243-8C>T
|
rs781931508
|
0.00002
|
|
NM_031407.7(HUWE1):c.9097-6C>T
|
rs781879725
|
0.00002
|
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
|
NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val)
|
rs367826825
|
0.00002
|
|
NM_032237.5(POMK):c.905T>A (p.Val302Asp)
|
rs199756983
|
0.00002
|
|
NM_032444.4(SLX4):c.2055C>T (p.Val685=)
|
rs775934995
|
0.00002
|
|
NM_032444.4(SLX4):c.2843C>T (p.Ala948Val)
|
rs781462011
|
0.00002
|
|
NM_032444.4(SLX4):c.401C>T (p.Ala134Val)
|
rs759574554
|
0.00002
|
|
NM_032444.4(SLX4):c.5242C>T (p.Gln1748Ter)
|
rs776789371
|
0.00002
|
|
NM_032444.4(SLX4):c.5423T>G (p.Phe1808Cys)
|
rs371390105
|
0.00002
|
|
NM_032531.4(KIRREL3):c.1786T>C (p.Ser596Pro)
|
rs773813451
|
0.00002
|
|
NM_032531.4(KIRREL3):c.207C>T (p.Cys69=)
|
rs371273662
|
0.00002
|
|
NM_032638.5(GATA2):c.-328del
|
rs1220195779
|
0.00002
|
|
NM_032638.5(GATA2):c.1401C>T (p.Phe467=)
|
rs534807053
|
0.00002
|
|
NM_032806.6(POMGNT2):c.1195G>A (p.Glu399Lys)
|
rs754794110
|
0.00002
|
|
NM_033022.4(RPS24):c.6C>T (p.Asn2=)
|
rs746098498
|
0.00002
|
|
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)
|
rs763862849
|
0.00002
|
|
NM_058216.3(RAD51C):c.451G>A (p.Val151Met)
|
rs753912045
|
0.00002
|
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
|
NM_130839.5(UBE3A):c.1192A>C (p.Ile398Leu)
|
rs200380619
|
0.00002
|
|
NM_133433.4(NIPBL):c.126T>C (p.Phe42=)
|
rs727504046
|
0.00002
|
|
NM_133433.4(NIPBL):c.1817C>T (p.Pro606Leu)
|
rs958483468
|
0.00002
|
|
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser)
|
rs587783983
|
0.00002
|
|
NM_133433.4(NIPBL):c.611-10T>C
|
rs368836554
|
0.00002
|
|
NM_133444.3(ZNF526):c.2002G>C (p.Ala668Pro)
|
rs758206052
|
0.00002
|
|
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys)
|
rs144045461
|
0.00002
|
|
NM_133642.5(LARGE1):c.615+8C>T
|
rs587783731
|
0.00002
|
|
NM_138422.4(ADAT3):c.440G>A (p.Arg147Gln)
|
rs562447196
|
0.00002
|
|
NM_138422.4(ADAT3):c.922G>A (p.Ala308Thr)
|
rs556261133
|
0.00002
|
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
|
NM_138927.4(SON):c.1526C>T (p.Thr509Met)
|
rs749384711
|
0.00002
|
|
NM_139058.3(ARX):c.1272G>A (p.Pro424=)
|
rs398124507
|
0.00002
|
|
NM_139058.3(ARX):c.1281C>T (p.Asp427=)
|
rs587783185
|
0.00002
|
|
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr)
|
rs746120093
|
0.00002
|
|
NM_139058.3(ARX):c.300G>A (p.Ala100=)
|
rs797045294
|
0.00002
|
|
NM_139058.3(ARX):c.306G>T (p.Ala102=)
|
rs587783196
|
0.00002
|
|
NM_144508.5(KNL1):c.3633C>T (p.Ile1211=)
|
rs374543266
|
0.00002
|
|
NM_144596.4(TTC8):c.445C>T (p.Arg149Cys)
|
rs781214218
|
0.00002
|
|
NM_148923.4(CYB5A):c.256C>T (p.Pro86Ser)
|
rs760465035
|
0.00002
|
|
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met)
|
rs745866775
|
0.00002
|
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
|
NM_152618.3(BBS12):c.1108C>T (p.Leu370=)
|
rs777279530
|
0.00002
|
|
NM_152703.5(SAMD9L):c.1765C>T (p.Arg589Ter)
|
rs763831653
|
0.00002
|
|
NM_152703.5(SAMD9L):c.1934T>C (p.Leu645Pro)
|
rs200412482
|
0.00002
|
|
NM_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser)
|
rs774643105
|
0.00002
|
|
NM_152783.5(D2HGDH):c.1191C>T (p.Gly397=)
|
rs772322155
|
0.00002
|
|
NM_152783.5(D2HGDH):c.281G>C (p.Arg94Pro)
|
rs797045509
|
0.00002
|
|
NM_153026.3(PRICKLE1):c.1248G>A (p.Thr416=)
|
rs142502371
|
0.00002
|
|
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)
|
rs587779736
|
0.00002
|
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
|
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=)
|
rs587780367
|
0.00002
|
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
|
NM_176824.3(BBS7):c.442A>C (p.Asn148His)
|
rs982037757
|
0.00002
|
|
NM_181303.2(NLGN3):c.1473C>T (p.Ala491=)
|
rs747037180
|
0.00002
|
|
NM_181303.2(NLGN3):c.1703+5G>T
|
rs746912425
|
0.00002
|
|
NM_181332.3(NLGN4X):c.2128C>T (p.Arg710Cys)
|
rs763458960
|
0.00002
|
|
NM_181741.4(ORC4):c.1136T>C (p.Leu379Ser)
|
rs780860667
|
0.00002
|
|
NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn)
|
rs201449723
|
0.00002
|
|
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser)
|
rs368490158
|
0.00002
|
|
NM_182961.4(SYNE1):c.2889C>T (p.His963=)
|
rs747231741
|
0.00002
|
|
NM_198253.3(TERT):c.1843G>A (p.Ala615Thr)
|
rs112614087
|
0.00002
|
|
NM_198253.3(TERT):c.2187C>T (p.Ile729=)
|
rs200819224
|
0.00002
|
|
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln)
|
rs768168259
|
0.00002
|
|
NM_198253.3(TERT):c.2286+12G>A
|
rs756363405
|
0.00002
|
|
NM_198253.3(TERT):c.619G>A (p.Val207Ile)
|
rs943176303
|
0.00002
|
|
NM_198253.3(TERT):c.957G>A (p.Thr319=)
|
rs1018341020
|
0.00002
|
|
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter)
|
rs587783652
|
0.00002
|
|
NM_203447.4(DOCK8):c.250G>A (p.Gly84Arg)
|
rs1318020471
|
0.00002
|
|
NM_205850.3(SLC24A5):c.1500T>C (p.Gly500=)
|
rs779998906
|
0.00002
|
|
NM_206937.2(LIG4):c.526A>C (p.Thr176Pro)
|
rs1211502925
|
0.00002
|
|
NM_207111.4(RNF216):c.201A>G (p.Glu67=)
|
rs751253895
|
0.00002
|
|
NM_213599.3(ANO5):c.794A>G (p.Asn265Ser)
|
rs377553546
|
0.00002
|
|
NM_213622.4(STAMBP):c.1230C>T (p.His410=)
|
rs587784445
|
0.00002
|
|
NC_000022.10:g.38522454delG
|
rs587784329
|
0.00001
|
|
NM_000022.4(ADA):c.125C>G (p.Thr42Arg)
|
rs780318972
|
0.00001
|
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
|
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)
|
rs1036185928
|
0.00001
|
|
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)
|
rs202064195
|
0.00001
|
|
NM_000032.5(ALAS2):c.1509C>T (p.Ala503=)
|
rs377127748
|
0.00001
|
|
NM_000038.6(APC):c.1243G>A (p.Ala415Thr)
|
rs756336949
|
0.00001
|
|
NM_000038.6(APC):c.1746A>G (p.Glu582=)
|
rs876658969
|
0.00001
|
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
|
NM_000038.6(APC):c.3163A>G (p.Ile1055Val)
|
rs1580631854
|
0.00001
|
|
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)
|
rs151286353
|
0.00001
|
|
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)
|
rs201550951
|
0.00001
|
|
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)
|
rs377640390
|
0.00001
|
|
NM_000038.6(APC):c.3824G>C (p.Ser1275Thr)
|
rs587781637
|
0.00001
|
|
NM_000038.6(APC):c.3964G>A (p.Glu1322Lys)
|
rs752926571
|
0.00001
|
|
NM_000038.6(APC):c.5194A>G (p.Met1732Val)
|
rs752065261
|
0.00001
|
|
NM_000038.6(APC):c.8378G>A (p.Ser2793Asn)
|
rs374853436
|
0.00001
|
|
NM_000044.6(AR):c.1380C>T (p.Gly460=)
|
rs1264262764
|
0.00001
|
|
NM_000044.6(AR):c.2612C>T (p.Ala871Val)
|
rs143040492
|
0.00001
|
|
NM_000047.3(ARSL):c.326G>C (p.Gly109Ala)
|
rs1367254706
|
0.00001
|
|
NM_000047.3(ARSL):c.337C>T (p.Leu113Phe)
|
rs145946864
|
0.00001
|
|
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)
|
rs1057521115
|
0.00001
|
|
NM_000051.3(ATM):c.-282T>G
|
rs1301840777
|
0.00001
|
|
NM_000051.4(ATM):c.-127A>G
|
rs1332542692
|
0.00001
|
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
0.00001
|
|
NM_000051.4(ATM):c.1352G>A (p.Arg451His)
|
rs554805703
|
0.00001
|
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
|
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)
|
rs1060501610
|
0.00001
|
|
NM_000051.4(ATM):c.2175C>T (p.Val725=)
|
rs140110298
|
0.00001
|
|
NM_000051.4(ATM):c.2922-8T>A
|
rs545892367
|
0.00001
|
|
NM_000051.4(ATM):c.3802G>A (p.Val1268Met)
|
rs863224564
|
0.00001
|
|
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn)
|
rs730881365
|
0.00001
|
|
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)
|
rs754181173
|
0.00001
|
|
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu)
|
rs141329176
|
0.00001
|
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
|
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu)
|
rs786203857
|
0.00001
|
|
NM_000051.4(ATM):c.507T>C (p.Ser169=)
|
rs758619186
|
0.00001
|
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
|
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu)
|
rs1060501652
|
0.00001
|
|
NM_000051.4(ATM):c.5999G>A (p.Ser2000Asn)
|
rs775921052
|
0.00001
|
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
|
NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly)
|
rs876659773
|
0.00001
|
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
|
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg)
|
rs1064793579
|
0.00001
|
|
NM_000051.4(ATM):c.9087T>G (p.Gly3029=)
|
rs759675675
|
0.00001
|
|
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val)
|
rs876660534
|
0.00001
|
|
NM_000052.7(ATP7A):c.3532T>C (p.Tyr1178His)
|
rs1139445
|
0.00001
|
|
NM_000052.7(ATP7A):c.3658+13A>G
|
rs797045381
|
0.00001
|
|
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val)
|
rs775754066
|
0.00001
|
|
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)
|
rs797045402
|
0.00001
|
|
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)
|
rs372436901
|
0.00001
|
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
|
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)
|
rs28942075
|
0.00001
|
|
NM_000053.4(ATP7B):c.2865+1G>A
|
rs587783306
|
0.00001
|
|
NM_000053.4(ATP7B):c.3169C>T (p.Leu1057=)
|
rs587783308
|
0.00001
|
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
|
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)
|
rs587783314
|
0.00001
|
|
NM_000053.4(ATP7B):c.4221T>A (p.Asp1407Glu)
|
rs587783320
|
0.00001
|
|
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro)
|
rs377492122
|
0.00001
|
|
NM_000057.4(BLM):c.1238A>T (p.Glu413Val)
|
rs1215111361
|
0.00001
|
|
NM_000057.4(BLM):c.204C>T (p.Thr68=)
|
rs199927688
|
0.00001
|
|
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg)
|
rs778695045
|
0.00001
|
|
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe)
|
rs1060500651
|
0.00001
|
|
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)
|
rs749632465
|
0.00001
|
|
NM_000057.4(BLM):c.2489C>T (p.Thr830Met)
|
rs759545027
|
0.00001
|
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
|
NM_000057.4(BLM):c.2661A>G (p.Pro887=)
|
rs753160480
|
0.00001
|
|
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)
|
rs1396484162
|
0.00001
|
|
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu)
|
rs1031421025
|
0.00001
|
|
NM_000059.4(BRCA2):c.-143C>T
|
rs1453200112
|
0.00001
|
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
|
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)
|
rs80358431
|
0.00001
|
|
NM_000059.4(BRCA2):c.1598C>T (p.Thr533Ile)
|
rs781763239
|
0.00001
|
|
NM_000059.4(BRCA2):c.1966A>G (p.Thr656Ala)
|
rs398122736
|
0.00001
|
|
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)
|
rs1303254121
|
0.00001
|
|
NM_000059.4(BRCA2):c.2452A>C (p.Asn818His)
|
rs750667529
|
0.00001
|
|
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu)
|
rs587782454
|
0.00001
|
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
|
NM_000059.4(BRCA2):c.3007C>G (p.His1003Asp)
|
rs878853565
|
0.00001
|
|
NM_000059.4(BRCA2):c.3709G>C (p.Ala1237Pro)
|
rs398122770
|
0.00001
|
|
NM_000059.4(BRCA2):c.449A>G (p.His150Arg)
|
rs397507722
|
0.00001
|
|
NM_000059.4(BRCA2):c.4561C>T (p.Leu1521=)
|
rs370723514
|
0.00001
|
|
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg)
|
rs587782822
|
0.00001
|
|
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys)
|
rs786202543
|
0.00001
|
|
NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=)
|
rs372951842
|
0.00001
|
|
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg)
|
rs80358791
|
0.00001
|
|
NM_000059.4(BRCA2):c.5782G>A (p.Glu1928Lys)
|
rs56253082
|
0.00001
|
|
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)
|
rs759138390
|
0.00001
|
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
|
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr)
|
rs1060502377
|
0.00001
|
|
NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile)
|
rs370026879
|
0.00001
|
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
|
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=)
|
rs587780658
|
0.00001
|
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
|
NM_000059.4(BRCA2):c.6734T>A (p.Leu2245Gln)
|
rs772795886
|
0.00001
|
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
|
NM_000059.4(BRCA2):c.6810A>G (p.Gly2270=)
|
rs864622496
|
0.00001
|
|
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg)
|
rs80359640
|
0.00001
|
|
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=)
|
rs759383358
|
0.00001
|
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
|
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp)
|
rs431825360
|
0.00001
|
|
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser)
|
rs80359020
|
0.00001
|
|
NM_000059.4(BRCA2):c.88A>C (p.Asn30His)
|
rs1253463092
|
0.00001
|
|
NM_000059.4(BRCA2):c.893C>T (p.Thr298Ile)
|
rs753067824
|
0.00001
|
|
NM_000059.4(BRCA2):c.9205T>C (p.Cys3069Arg)
|
rs398122611
|
0.00001
|
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
|
NM_000059.4(BRCA2):c.9396A>G (p.Lys3132=)
|
rs201172050
|
0.00001
|
|
NM_000059.4(BRCA2):c.9560A>G (p.Asn3187Ser)
|
rs1329182873
|
0.00001
|
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
|
NM_000064.4(C3):c.2118G>A (p.Ser706=)
|
rs755973774
|
0.00001
|
|
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg)
|
rs766630908
|
0.00001
|
|
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)
|
rs587780291
|
0.00001
|
|
NM_000077.5(CDKN2A):c.127A>G (p.Ser43Gly)
|
rs766854048
|
0.00001
|
|
NM_000080.4(CHRNE):c.1066T>C (p.Ser356Pro)
|
rs954120463
|
0.00001
|
|
NM_000081.4(LYST):c.1848C>T (p.Asn616=)
|
rs376259384
|
0.00001
|
|
NM_000081.4(LYST):c.2553T>C (p.Ser851=)
|
rs769690916
|
0.00001
|
|
NM_000081.4(LYST):c.463G>C (p.Val155Leu)
|
rs769942827
|
0.00001
|
|
NM_000081.4(LYST):c.6736C>T (p.Leu2246Phe)
|
rs758716853
|
0.00001
|
|
NM_000081.4(LYST):c.9243A>C (p.Gln3081His)
|
rs757239793
|
0.00001
|
|
NM_000096.4(CP):c.2500A>G (p.Ile834Val)
|
rs1377096899
|
0.00001
|
|
NM_000096.4(CP):c.656T>A (p.Val219Glu)
|
rs587780321
|
0.00001
|
|
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)
|
rs777638364
|
0.00001
|
|
NM_000123.4(ERCC5):c.673-2A>G
|
rs756420203
|
0.00001
|
|
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)
|
rs121917903
|
0.00001
|
|
NM_000135.4(FANCA):c.1211A>G (p.Gln404Arg)
|
rs769664248
|
0.00001
|
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
|
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser)
|
rs766939940
|
0.00001
|
|
NM_000135.4(FANCA):c.1859C>T (p.Thr620Ile)
|
rs558276772
|
0.00001
|
|
NM_000135.4(FANCA):c.1860C>A (p.Thr620=)
|
rs1041601770
|
0.00001
|
|
NM_000135.4(FANCA):c.220C>G (p.Leu74Val)
|
rs770294560
|
0.00001
|
|
NM_000135.4(FANCA):c.2316+7C>G
|
rs1366206489
|
0.00001
|
|
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val)
|
rs144570744
|
0.00001
|
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-9C>G
|
rs1406509004
|
0.00001
|
|
NM_000135.4(FANCA):c.2621G>C (p.Arg874Thr)
|
rs780114543
|
0.00001
|
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
|
NM_000135.4(FANCA):c.3162A>G (p.Arg1054=)
|
rs778275451
|
0.00001
|
|
NM_000135.4(FANCA):c.3457G>A (p.Asp1153Asn)
|
rs753036862
|
0.00001
|
|
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)
|
rs372706571
|
0.00001
|
|
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
|
rs201492940
|
0.00001
|
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
|
NM_000135.4(FANCA):c.3972G>C (p.Pro1324=)
|
rs1446370085
|
0.00001
|
|
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)
|
rs147406377
|
0.00001
|
|
NM_000135.4(FANCA):c.521A>G (p.Gln174Arg)
|
rs1378106123
|
0.00001
|
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
|
NM_000135.4(FANCA):c.90C>G (p.Val30=)
|
rs532713581
|
0.00001
|
|
NM_000136.3(FANCC):c.112G>A (p.Val38Met)
|
rs778951584
|
0.00001
|
|
NM_000136.3(FANCC):c.1298G>A (p.Arg433His)
|
rs768676102
|
0.00001
|
|
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln)
|
rs1060502519
|
0.00001
|
|
NM_000136.3(FANCC):c.436_438del (p.Tyr146del)
|
rs761347179
|
0.00001
|
|
NM_000136.3(FANCC):c.526G>C (p.Ala176Pro)
|
rs767389988
|
0.00001
|
|
NM_000136.3(FANCC):c.668T>C (p.Val223Ala)
|
rs751410815
|
0.00001
|
|
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)
|
rs730881717
|
0.00001
|
|
NM_000136.3(FANCC):c.851C>T (p.Ala284Val)
|
rs201281511
|
0.00001
|
|
NM_000138.5(FBN1):c.5556A>G (p.Glu1852=)
|
rs757457003
|
0.00001
|
|
NM_000142.5(FGFR3):c.1056G>A (p.Ala352=)
|
rs765849160
|
0.00001
|
|
NM_000142.5(FGFR3):c.1645+4G>C
|
rs1367336734
|
0.00001
|
|
NM_000142.5(FGFR3):c.381C>T (p.Asp127=)
|
rs762778478
|
0.00001
|
|
NM_000143.4(FH):c.648T>A (p.Asp216Glu)
|
rs199536615
|
0.00001
|
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
|
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)
|
rs756690487
|
0.00001
|
|
NM_000162.3(GCK):c.-534C>T
|
rs182891400
|
0.00001
|
|
NM_000162.5(GCK):c.1120G>C (p.Val374Leu)
|
rs1415041911
|
0.00001
|
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
|
NM_000162.5(GCK):c.908G>A (p.Arg303Gln)
|
rs1312678560
|
0.00001
|
|
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)
|
rs962041031
|
0.00001
|
|
NM_000179.3(MSH6):c.1270G>C (p.Val424Leu)
|
rs768299607
|
0.00001
|
|
NM_000179.3(MSH6):c.134G>C (p.Gly45Ala)
|
rs1114167802
|
0.00001
|
|
NM_000179.3(MSH6):c.1585G>A (p.Gly529Ser)
|
rs1457286684
|
0.00001
|
|
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)
|
rs587782386
|
0.00001
|
|
NM_000179.3(MSH6):c.2934G>A (p.Gln978=)
|
rs751780309
|
0.00001
|
|
NM_000179.3(MSH6):c.3375C>G (p.Gly1125=)
|
rs765577023
|
0.00001
|
|
NM_000179.3(MSH6):c.3396T>A (p.Val1132=)
|
rs1026907245
|
0.00001
|
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
|
NM_000179.3(MSH6):c.869T>C (p.Leu290Pro)
|
rs751309721
|
0.00001
|
|
NM_000197.2(HSD17B3):c.126T>C (p.Ser42=)
|
rs780124210
|
0.00001
|
|
NM_000198.4(HSD3B2):c.308-9C>T
|
rs375047799
|
0.00001
|
|
NM_000198.4(HSD3B2):c.560C>T (p.Thr187Ile)
|
rs764370917
|
0.00001
|
|
NM_000207.3(INS):c.-18+22G>A
|
rs1051986248
|
0.00001
|
|
NM_000207.3(INS):c.188-137A>T
|
rs1378546387
|
0.00001
|
|
NM_000208.4(INSR):c.14G>A (p.Gly5Asp)
|
rs886054690
|
0.00001
|
|
NM_000208.4(INSR):c.1610+2T>C
|
rs797045624
|
0.00001
|
|
NM_000208.4(INSR):c.3202C>T (p.Arg1068Trp)
|
rs762687424
|
0.00001
|
|
NM_000208.4(INSR):c.624A>G (p.Arg208=)
|
rs759705666
|
0.00001
|
|
NM_000212.3(ITGB3):c.1731C>T (p.Ser577=)
|
rs140027797
|
0.00001
|
|
NM_000212.3(ITGB3):c.201G>A (p.Lys67=)
|
rs780479441
|
0.00001
|
|
NM_000212.3(ITGB3):c.777+1G>A
|
rs745766760
|
0.00001
|
|
NM_000214.3(JAG1):c.1794C>T (p.Val598=)
|
rs200580391
|
0.00001
|
|
NM_000217.3(KCNA1):c.76C>T (p.Arg26Trp)
|
rs373645838
|
0.00001
|
|
NM_000233.4(LHCGR):c.1787T>G (p.Val596Gly)
|
rs748387075
|
0.00001
|
|
NM_000233.4(LHCGR):c.2091A>T (p.Thr697=)
|
rs148244033
|
0.00001
|
|
NM_000240.4(MAOA):c.1079G>A (p.Arg360Gln)
|
rs755359800
|
0.00001
|
|
NM_000245.4(MET):c.2136A>G (p.Pro712=)
|
rs774439479
|
0.00001
|
|
NM_000249.4(MLH1):c.116+8G>A
|
rs904872305
|
0.00001
|
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
|
NM_000251.3(MSH2):c.1194A>G (p.Ala398=)
|
rs1060504412
|
0.00001
|
|
NM_000251.3(MSH2):c.1759+9A>C
|
rs994093288
|
0.00001
|
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
0.00001
|
|
NM_000251.3(MSH2):c.208G>A (p.Ala70Thr)
|
rs587778522
|
0.00001
|
|
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)
|
rs587781996
|
0.00001
|
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
|
NM_000251.3(MSH2):c.727C>T (p.Arg243Trp)
|
rs138857091
|
0.00001
|
|
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)
|
rs587783753
|
0.00001
|
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
|
NM_000255.4(MMUT):c.323G>A (p.Arg108His)
|
rs483352778
|
0.00001
|
|
NM_000257.4(MYH7):c.3474C>T (p.Ser1158=)
|
rs587780395
|
0.00001
|
|
NM_000264.5(PTCH1):c.3264T>A (p.Ala1088=)
|
rs1361137530
|
0.00001
|
|
NM_000268.4(NF2):c.435C>T (p.Ala145=)
|
rs955424447
|
0.00001
|
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
|
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser)
|
rs1364834942
|
0.00001
|
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
|
NM_000273.3(GPR143):c.251-9C>A
|
rs374596288
|
0.00001
|
|
NM_000275.3(OCA2):c.1045-9T>G
|
rs755604671
|
0.00001
|
|
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)
|
rs763819379
|
0.00001
|
|
NM_000275.3(OCA2):c.1891G>A (p.Gly631Arg)
|
rs1555440003
|
0.00001
|
|
NM_000275.3(OCA2):c.535A>G (p.Lys179Glu)
|
rs1277911369
|
0.00001
|
|
NM_000275.3(OCA2):c.573+5G>A
|
rs1432628513
|
0.00001
|
|
NM_000275.3(OCA2):c.807+1G>T
|
rs763219039
|
0.00001
|
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
|
NM_000297.4(PKD2):c.2460C>T (p.Ser820=)
|
rs572822238
|
0.00001
|
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
|
NM_000303.3(PMM2):c.-19G>A
|
rs745838978
|
0.00001
|
|
NM_000310.4(PPT1):c.229A>G (p.Met77Val)
|
rs587780425
|
0.00001
|
|
NM_000314.8(PTEN):c.-216C>T
|
rs1858381810
|
0.00001
|
|
NM_000314.8(PTEN):c.1062G>A (p.Pro354=)
|
rs786202751
|
0.00001
|
|
NM_000314.8(PTEN):c.210-9T>C
|
rs751744545
|
0.00001
|
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
|
NM_000330.4(RS1):c.185-3137C>A
|
rs767312604
|
0.00001
|
|
NM_000330.4(RS1):c.185-3176C>T
|
rs747799506
|
0.00001
|
|
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=)
|
rs367936207
|
0.00001
|
|
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)
|
rs201916531
|
0.00001
|
|
NM_000334.4(SCN4A):c.4218C>G (p.Ala1406=)
|
rs770836153
|
0.00001
|
|
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)
|
rs542947894
|
0.00001
|
|
NM_000352.6(ABCC8):c.1242T>C (p.Ala414=)
|
rs563592305
|
0.00001
|
|
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)
|
rs768951263
|
0.00001
|
|
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)
|
rs148811815
|
0.00001
|
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
|
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys)
|
rs373175144
|
0.00001
|
|
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val)
|
rs149400972
|
0.00001
|
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
|
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln)
|
rs745591375
|
0.00001
|
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
|
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)
|
rs769518471
|
0.00001
|
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
|
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=)
|
rs144207158
|
0.00001
|
|
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe)
|
rs1278920115
|
0.00001
|
|
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)
|
rs1057516281
|
0.00001
|
|
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)
|
rs193922401
|
0.00001
|
|
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg)
|
rs748233295
|
0.00001
|
|
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val)
|
rs776100468
|
0.00001
|
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
|
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val)
|
rs748831440
|
0.00001
|
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
|
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=)
|
rs752809991
|
0.00001
|
|
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)
|
rs72559717
|
0.00001
|
|
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
|
rs971604271
|
0.00001
|
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
|
NM_000352.6(ABCC8):c.4524G>A (p.Thr1508=)
|
rs553746345
|
0.00001
|
|
NM_000352.6(ABCC8):c.4588C>T (p.Arg1530Cys)
|
rs148808854
|
0.00001
|
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
|
NM_000352.6(ABCC8):c.510C>T (p.Cys170=)
|
rs752679178
|
0.00001
|
|
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
|
NM_000352.6(ABCC8):c.970G>A (p.Val324Met)
|
rs1328072266
|
0.00001
|
|
NM_000368.5(TSC1):c.1219G>A (p.Val407Met)
|
rs769331772
|
0.00001
|
|
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp)
|
rs375394001
|
0.00001
|
|
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)
|
rs730881165
|
0.00001
|
|
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)
|
rs1013801316
|
0.00001
|
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
|
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)
|
rs61753187
|
0.00001
|
|
NM_000372.5(TYR):c.26T>C (p.Leu9Pro)
|
rs1238837002
|
0.00001
|
|
NM_000372.5(TYR):c.635G>A (p.Arg212Lys)
|
rs377209424
|
0.00001
|
|
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)
|
rs797046083
|
0.00001
|
|
NM_000372.5(TYR):c.74dup (p.Ser26fs)
|
rs1057518763
|
0.00001
|
|
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)
|
rs757754120
|
0.00001
|
|
NM_000377.3(WAS):c.223G>A (p.Val75Met)
|
rs782290433
|
0.00001
|
|
NM_000381.4(MID1):c.1695T>C (p.His565=)
|
rs902247260
|
0.00001
|
|
NM_000381.4(MID1):c.567C>T (p.Thr189=)
|
rs1555905154
|
0.00001
|
|
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser)
|
rs140347078
|
0.00001
|
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
|
NM_000407.5(GP1BB):c.296C>T (p.Pro99Leu)
|
rs1013880318
|
0.00001
|
|
NM_000407.5(GP1BB):c.340C>T (p.Arg114Cys)
|
rs587783648
|
0.00001
|
|
NM_000417.3(IL2RA):c.64+8C>T
|
rs763613912
|
0.00001
|
|
NM_000419.5(ITGA2B):c.1052G>A (p.Arg351Gln)
|
rs1271894177
|
0.00001
|
|
NM_000419.5(ITGA2B):c.2167C>T (p.Pro723Ser)
|
rs773674408
|
0.00001
|
|
NM_000426.4(LAMA2):c.2122G>A (p.Ala708Thr)
|
rs777765933
|
0.00001
|
|
NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr)
|
rs797045679
|
0.00001
|
|
NM_000426.4(LAMA2):c.4933A>G (p.Thr1645Ala)
|
rs1248916068
|
0.00001
|
|
NM_000426.4(LAMA2):c.5675A>T (p.Gln1892Leu)
|
rs779542581
|
0.00001
|
|
NM_000426.4(LAMA2):c.6520del (p.Asn2173_Val2174insTer)
|
rs776548207
|
0.00001
|
|
NM_000426.4(LAMA2):c.7369A>C (p.Asn2457His)
|
rs797045680
|
0.00001
|
|
NM_000430.4(PAFAH1B1):c.192+15T>C
|
rs587784255
|
0.00001
|
|
NM_000439.5(PCSK1):c.183T>C (p.Ile61=)
|
rs780272842
|
0.00001
|
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
|
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe)
|
rs780035561
|
0.00001
|
|
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val)
|
rs1283652721
|
0.00001
|
|
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg)
|
rs1476500325
|
0.00001
|
|
NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys)
|
rs587784538
|
0.00001
|
|
NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs)
|
rs766536479
|
0.00001
|
|
NM_000465.4(BARD1):c.121C>G (p.Leu41Val)
|
rs751665426
|
0.00001
|
|
NM_000465.4(BARD1):c.155G>A (p.Arg52His)
|
rs574257684
|
0.00001
|
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
|
NM_000465.4(BARD1):c.300A>G (p.Gln100=)
|
rs977731407
|
0.00001
|
|
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=)
|
rs572970359
|
0.00001
|
|
NM_000489.6(ATRX):c.134-3T>A
|
rs587780287
|
0.00001
|
|
NM_000489.6(ATRX):c.2522T>C (p.Ile841Thr)
|
rs797045405
|
0.00001
|
|
NM_000489.6(ATRX):c.2692G>C (p.Asp898His)
|
rs781903868
|
0.00001
|
|
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)
|
rs1057523431
|
0.00001
|
|
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)
|
rs587780285
|
0.00001
|
|
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)
|
rs782556767
|
0.00001
|
|
NM_000489.6(ATRX):c.672G>A (p.Ala224=)
|
rs782223625
|
0.00001
|
|
NM_000489.6(ATRX):c.88G>C (p.Glu30Gln)
|
rs1427263828
|
0.00001
|
|
NM_000521.4(HEXB):c.778T>C (p.Tyr260His)
|
rs1453919511
|
0.00001
|
|
NM_000522.5(HOXA13):c.159C>G (p.Ala53=)
|
rs1362954246
|
0.00001
|
|
NM_000525.4(KCNJ11):c.-111C>T
|
rs994122287
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro)
|
rs797045635
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)
|
rs114613745
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1152C>T (p.Ile384=)
|
rs184094021
|
0.00001
|
|
NM_000525.4(KCNJ11):c.130G>A (p.Val44Met)
|
rs1282255458
|
0.00001
|
|
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met)
|
rs1057518775
|
0.00001
|
|
NM_000525.4(KCNJ11):c.291C>T (p.His97=)
|
rs371886780
|
0.00001
|
|
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)
|
rs766891274
|
0.00001
|
|
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met)
|
rs587783668
|
0.00001
|
|
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys)
|
rs775204908
|
0.00001
|
|
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)
|
rs752507753
|
0.00001
|
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
|
NM_000525.4(KCNJ11):c.969C>T (p.Asp323=)
|
rs1272384074
|
0.00001
|
|
NM_000525.4(KCNJ11):c.992C>G (p.Ser331Cys)
|
rs763728797
|
0.00001
|
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
|
NM_000533.5(PLP1):c.193A>G (p.Ile65Val)
|
rs759106420
|
0.00001
|
|
NM_000533.5(PLP1):c.696+8G>T
|
rs902326390
|
0.00001
|
|
NM_000534.5(PMS1):c.2146G>A (p.Val716Ile)
|
rs757877460
|
0.00001
|
|
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val)
|
rs543676323
|
0.00001
|
|
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe)
|
rs587782640
|
0.00001
|
|
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn)
|
rs876660139
|
0.00001
|
|
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala)
|
rs762151417
|
0.00001
|
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
|
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)
|
rs749727182
|
0.00001
|
|
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)
|
rs760629688
|
0.00001
|
|
NM_000535.7(PMS2):c.2109G>A (p.Thr703=)
|
rs775355718
|
0.00001
|
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
|
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe)
|
rs730881908
|
0.00001
|
|
NM_000535.7(PMS2):c.711A>G (p.Gln237=)
|
rs368608818
|
0.00001
|
|
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)
|
rs775445157
|
0.00001
|
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
|
NM_000540.3(RYR1):c.10018+7C>T
|
rs797045928
|
0.00001
|
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
|
NM_000540.3(RYR1):c.12160G>A (p.Val4054Met)
|
rs769642510
|
0.00001
|
|
NM_000540.3(RYR1):c.13122G>A (p.Val4374=)
|
rs797045930
|
0.00001
|
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
|
NM_000540.3(RYR1):c.1792-8A>T
|
rs746765869
|
0.00001
|
|
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn)
|
rs780145264
|
0.00001
|
|
NM_000540.3(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup)
|
rs797045933
|
0.00001
|
|
NM_000540.3(RYR1):c.3686T>C (p.Met1229Thr)
|
rs750057461
|
0.00001
|
|
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)
|
rs587784376
|
0.00001
|
|
NM_000540.3(RYR1):c.4466G>A (p.Ser1489Asn)
|
rs34404839
|
0.00001
|
|
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys)
|
rs761616815
|
0.00001
|
|
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)
|
rs193922826
|
0.00001
|
|
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)
|
rs756331568
|
0.00001
|
|
NM_000545.6(HNF1A):c.-291T>C
|
rs534474388
|
0.00001
|
|
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)
|
rs1403526456
|
0.00001
|
|
NM_000545.8(HNF1A):c.1168G>A (p.Glu390Lys)
|
rs1877115047
|
0.00001
|
|
NM_000545.8(HNF1A):c.146C>A (p.Ser49Tyr)
|
rs780298807
|
0.00001
|
|
NM_000545.8(HNF1A):c.246G>A (p.Thr82=)
|
rs752243228
|
0.00001
|
|
NM_000545.8(HNF1A):c.608G>A (p.Arg203His)
|
rs587780357
|
0.00001
|
|
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)
|
rs765829022
|
0.00001
|
|
NM_000546.6(TP53):c.341T>C (p.Leu114Ser)
|
rs781724995
|
0.00001
|
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
|
NM_000546.6(TP53):c.79C>T (p.Pro27Ser)
|
rs922736614
|
0.00001
|
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
|
NM_000546.6(TP53):c.848G>A (p.Arg283His)
|
rs371409680
|
0.00001
|
|
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)
|
rs766200310
|
0.00001
|
|
NM_000548.5(TSC2):c.2331T>C (p.His777=)
|
rs139963953
|
0.00001
|
|
NM_000548.5(TSC2):c.5097G>C (p.Val1699=)
|
rs397515314
|
0.00001
|
|
NM_000548.5(TSC2):c.5320A>G (p.Ser1774Gly)
|
rs368083145
|
0.00001
|
|
NM_000550.3(TYRP1):c.1186A>C (p.Asn396His)
|
rs765833423
|
0.00001
|
|
NM_000551.4(VHL):c.-12_2dup (p.Met1fs)
|
rs886041253
|
0.00001
|
|
NM_000552.5(VWF):c.6287T>A (p.Phe2096Tyr)
|
rs762847913
|
0.00001
|
|
NM_000553.6(WRN):c.1988C>T (p.Thr663Met)
|
rs752650803
|
0.00001
|
|
NM_000553.6(WRN):c.4197A>T (p.Ser1399=)
|
rs1220777931
|
0.00001
|
|
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)
|
rs137852874
|
0.00001
|
|
NM_000760.4(CSF3R):c.1014G>A (p.Leu338=)
|
rs147532578
|
0.00001
|
|
NM_000760.4(CSF3R):c.1286-3C>T
|
rs778391319
|
0.00001
|
|
NM_000760.4(CSF3R):c.1624T>C (p.Trp542Arg)
|
rs763748002
|
0.00001
|
|
NM_000760.4(CSF3R):c.1795C>A (p.His599Asn)
|
rs750968883
|
0.00001
|
|
NM_000760.4(CSF3R):c.2192G>A (p.Gly731Glu)
|
rs1553151543
|
0.00001
|
|
NM_000760.4(CSF3R):c.2241C>T (p.Ser747=)
|
rs372773604
|
0.00001
|
|
NM_000760.4(CSF3R):c.2428G>A (p.Asp810Asn)
|
rs567871402
|
0.00001
|
|
NM_000760.4(CSF3R):c.392G>A (p.Cys131Tyr)
|
rs777701371
|
0.00001
|
|
NM_000760.4(CSF3R):c.40C>G (p.Leu14Val)
|
rs752051152
|
0.00001
|
|
NM_000760.4(CSF3R):c.491G>A (p.Arg164Gln)
|
rs754336092
|
0.00001
|
|
NM_000760.4(CSF3R):c.820C>T (p.Arg274Cys)
|
rs759587248
|
0.00001
|
|
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile)
|
rs377696502
|
0.00001
|
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2530T>C (p.Trp844Arg)
|
rs138088984
|
0.00001
|
|
NM_000834.5(GRIN2B):c.381C>T (p.His127=)
|
rs200608452
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=)
|
rs201670483
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4102G>A (p.Gly1368Ser)
|
rs1043559346
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4235C>A (p.Ala1412Glu)
|
rs1314346300
|
0.00001
|
|
NM_000939.4(POMC):c.250T>G (p.Trp84Gly)
|
rs748145117
|
0.00001
|
|
NM_000969.5(RPL5):c.381T>A (p.Gly127=)
|
rs1251386648
|
0.00001
|
|
NM_000969.5(RPL5):c.435T>C (p.Tyr145=)
|
rs188046229
|
0.00001
|
|
NM_000969.5(RPL5):c.795-9C>A
|
rs748765097
|
0.00001
|
|
NM_001001344.3(ATP2B3):c.2062C>T (p.Pro688Ser)
|
rs1300677291
|
0.00001
|
|
NM_001002295.2(GATA3):c.742G>A (p.Gly248Arg)
|
rs370055470
|
0.00001
|
|
NM_001003787.4(STRADA):c.1205A>G (p.Asn402Ser)
|
rs991274034
|
0.00001
|
|
NM_001004311.3(FIGLA):c.29C>A (p.Pro10His)
|
rs1247413611
|
0.00001
|
|
NM_001004320.2(AGMO):c.841A>G (p.Ile281Val)
|
rs560020764
|
0.00001
|
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
|
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser)
|
rs753175954
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.4243A>G (p.Met1415Val)
|
rs797045648
|
0.00001
|
|
NM_001009999.3(KDM1A):c.2045A>G (p.Asn682Ser)
|
rs1160453011
|
0.00001
|
|
NM_001009999.3(KDM1A):c.2344C>A (p.Arg782=)
|
rs755231433
|
0.00001
|
|
NM_001010898.4(SLC6A17):c.1941C>G (p.Gly647=)
|
rs376648268
|
0.00001
|
|
NM_001010898.4(SLC6A17):c.489G>C (p.Trp163Cys)
|
rs1054854634
|
0.00001
|
|
NM_001010898.4(SLC6A17):c.896G>A (p.Arg299Gln)
|
rs750138241
|
0.00001
|
|
NM_001011.4(RPS7):c.525T>G (p.Gly175=)
|
rs1392470365
|
0.00001
|
|
NM_001012339.3(DNAJC21):c.617T>A (p.Leu206Gln)
|
rs767882771
|
0.00001
|
|
NM_001012339.3(DNAJC21):c.896G>A (p.Gly299Asp)
|
rs1343829092
|
0.00001
|
|
NM_001012614.2(CTBP1):c.1054G>A (p.Ala352Thr)
|
rs1423221448
|
0.00001
|
|
NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=)
|
rs587783623
|
0.00001
|
|
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)
|
rs146312522
|
0.00001
|
|
NM_001017420.3(ESCO2):c.947A>G (p.Asn316Ser)
|
rs1554554586
|
0.00001
|
|
NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile)
|
rs995483698
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1465G>A (p.Val489Ile)
|
rs761454597
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1584A>T (p.Gln528His)
|
rs1324571856
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2554C>T (p.Pro852Ser)
|
rs777727311
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2566A>G (p.Thr856Ala)
|
rs145586834
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2976+5G>A
|
rs748710535
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3200A>G (p.Gln1067Arg)
|
rs771059153
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3221C>A (p.Ala1074Asp)
|
rs772237103
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)
|
rs745765337
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+69G>A
|
rs754606069
|
0.00001
|
|
NM_001022.4(RPS19):c.276C>T (p.Phe92=)
|
rs374703100
|
0.00001
|
|
NM_001023570.4(IQCB1):c.1552G>A (p.Val518Ile)
|
rs1484442908
|
0.00001
|
|
NM_001024630.4(RUNX2):c.195A>G (p.Gln65=)
|
rs575896136
|
0.00001
|
|
NM_001029.5(RPS26):c.42C>T (p.Gly14=)
|
rs771196681
|
0.00001
|
|
NM_001029.5(RPS26):c.93C>T (p.Pro31=)
|
rs760255764
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1375C>T (p.Arg459Trp)
|
rs750968891
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1548-7T>C
|
rs534556046
|
0.00001
|
|
NM_001032221.6(STXBP1):c.1607G>A (p.Arg536His)
|
rs749244650
|
0.00001
|
|
NM_001032382.2(PQBP1):c.510G>A (p.Arg170=)
|
rs782103312
|
0.00001
|
|
NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys)
|
rs757554677
|
0.00001
|
|
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)
|
rs786205834
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1578G>A (p.Ser526=)
|
rs141269163
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=)
|
rs149230197
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3870T>A (p.Thr1290=)
|
rs1225687118
|
0.00001
|
|
NM_001040142.2(SCN2A):c.4977G>A (p.Ala1659=)
|
rs1250394077
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=)
|
rs373913233
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5787A>G (p.Ser1929=)
|
rs1553463866
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5960A>G (p.Glu1987Gly)
|
rs757068860
|
0.00001
|
|
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val)
|
rs781204054
|
0.00001
|
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
|
NM_001042492.3(NF1):c.1186-4A>G
|
rs769295150
|
0.00001
|
|
NM_001042492.3(NF1):c.132C>A (p.Ile44=)
|
rs765778199
|
0.00001
|
|
NM_001042492.3(NF1):c.2622G>A (p.Lys874=)
|
rs77917884
|
0.00001
|
|
NM_001042492.3(NF1):c.2633T>C (p.Ile878Thr)
|
rs372049168
|
0.00001
|
|
NM_001042492.3(NF1):c.3242C>G (p.Ala1081Gly)
|
rs769941435
|
0.00001
|
|
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)
|
rs751571517
|
0.00001
|
|
NM_001042492.3(NF1):c.3871-4G>C
|
rs558421445
|
0.00001
|
|
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=)
|
rs779104728
|
0.00001
|
|
NM_001042492.3(NF1):c.6480A>G (p.Lys2160=)
|
rs1060503918
|
0.00001
|
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
|
NM_001042492.3(NF1):c.7479A>G (p.Pro2493=)
|
rs144957306
|
0.00001
|
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
|
NM_001042492.3(NF1):c.8091A>G (p.Gln2697=)
|
rs760433938
|
0.00001
|
|
NM_001048166.1(STIL):c.2542G>A (p.Val848Ile)
|
rs587784449
|
0.00001
|
|
NM_001048166.1(STIL):c.36G>A (p.Met12Ile)
|
rs587784451
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met)
|
rs587780084
|
0.00001
|
|
NM_001059.3(TACR3):c.1159C>T (p.Leu387Phe)
|
rs1353918699
|
0.00001
|
|
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr)
|
rs779771679
|
0.00001
|
|
NM_001077365.2(POMT1):c.774C>T (p.Phe258=)
|
rs761217834
|
0.00001
|
|
NM_001077446.4(TSEN34):c.786C>T (p.Cys262=)
|
rs749845322
|
0.00001
|
|
NM_001079802.2(FKTN):c.508G>A (p.Ala170Thr)
|
rs778818366
|
0.00001
|
|
NM_001079872.2(CUL4B):c.1201A>C (p.Lys401Gln)
|
rs750866615
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)
|
rs906284769
|
0.00001
|
|
NM_001080510.5(METTL23):c.271C>G (p.Leu91Val)
|
rs746117702
|
0.00001
|
|
NM_001080517.3(SETD5):c.2145A>G (p.Gln715=)
|
rs370407483
|
0.00001
|
|
NM_001080517.3(SETD5):c.245C>T (p.Pro82Leu)
|
rs746405582
|
0.00001
|
|
NM_001080517.3(SETD5):c.2922C>T (p.Asp974=)
|
rs1049067352
|
0.00001
|
|
NM_001080517.3(SETD5):c.330-3T>C
|
rs775547620
|
0.00001
|
|
NM_001080517.3(SETD5):c.3426G>A (p.Ala1142=)
|
rs146583836
|
0.00001
|
|
NM_001080517.3(SETD5):c.3824G>A (p.Arg1275Gln)
|
rs1283153458
|
0.00001
|
|
NM_001082486.1(ACD):c.67G>C (p.Gly23Arg)
|
rs760222002
|
0.00001
|
|
NM_001082486.2(ACD):c.1002C>T (p.Ser334=)
|
rs372195324
|
0.00001
|
|
NM_001082486.2(ACD):c.1052G>A (p.Arg351His)
|
rs370293582
|
0.00001
|
|
NM_001082486.2(ACD):c.124G>A (p.Val42Ile)
|
rs758513965
|
0.00001
|
|
NM_001082486.2(ACD):c.186C>T (p.Asp62=)
|
rs998982026
|
0.00001
|
|
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr)
|
rs1039048796
|
0.00001
|
|
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu)
|
rs139256582
|
0.00001
|
|
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu)
|
rs1370466465
|
0.00001
|
|
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg)
|
rs754815475
|
0.00001
|
|
NM_001083116.3(PRF1):c.227G>A (p.Cys76Tyr)
|
rs776657932
|
0.00001
|
|
NM_001083961.2(WDR62):c.1434C>G (p.Phe478Leu)
|
rs542178534
|
0.00001
|
|
NM_001083961.2(WDR62):c.1486C>T (p.Arg496Trp)
|
rs587784544
|
0.00001
|
|
NM_001083961.2(WDR62):c.1642+9G>A
|
rs112789274
|
0.00001
|
|
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser)
|
rs587784548
|
0.00001
|
|
NM_001083961.2(WDR62):c.2729T>A (p.Leu910Gln)
|
rs911479602
|
0.00001
|
|
NM_001083961.2(WDR62):c.2805T>A (p.Ser935=)
|
rs760951651
|
0.00001
|
|
NM_001083961.2(WDR62):c.2982G>A (p.Glu994=)
|
rs587784551
|
0.00001
|
|
NM_001083961.2(WDR62):c.3336-5C>G
|
rs587784555
|
0.00001
|
|
NM_001083961.2(WDR62):c.3559G>A (p.Val1187Met)
|
rs587784557
|
0.00001
|
|
NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr)
|
rs587784558
|
0.00001
|
|
NM_001083961.2(WDR62):c.4153G>A (p.Gly1385Ser)
|
rs764128952
|
0.00001
|
|
NM_001083961.2(WDR62):c.4473G>A (p.Pro1491=)
|
rs757729585
|
0.00001
|
|
NM_001083961.2(WDR62):c.4501C>T (p.Leu1501=)
|
rs1204833868
|
0.00001
|
|
NM_001083962.2(TCF4):c.*4+30C>T
|
rs587784457
|
0.00001
|
|
NM_001083962.2(TCF4):c.1185T>C (p.Asp395=)
|
rs1341306301
|
0.00001
|
|
NM_001083962.2(TCF4):c.420G>A (p.Ser140=)
|
rs763742755
|
0.00001
|
|
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile)
|
rs749534744
|
0.00001
|
|
NM_001099274.3(TINF2):c.389C>T (p.Ser130Leu)
|
rs746984199
|
0.00001
|
|
NM_001099274.3(TINF2):c.631C>G (p.Leu211Val)
|
rs746287594
|
0.00001
|
|
NM_001099274.3(TINF2):c.765C>A (p.Gly255=)
|
rs1171794268
|
0.00001
|
|
NM_001099274.3(TINF2):c.930G>A (p.Ala310=)
|
rs778877023
|
0.00001
|
|
NM_001100.4(ACTA1):c.246T>C (p.Asp82=)
|
rs373785144
|
0.00001
|
|
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val)
|
rs747967711
|
0.00001
|
|
NM_001102401.4(TTI2):c.1250C>G (p.Thr417Ser)
|
rs199664580
|
0.00001
|
|
NM_001102401.4(TTI2):c.934C>T (p.Leu312Phe)
|
rs776062163
|
0.00001
|
|
NM_001109809.5(ZFP57):c.1545C>G (p.Gly515=)
|
rs797046123
|
0.00001
|
|
NM_001109809.5(ZFP57):c.770G>A (p.Arg257Gln)
|
rs1362771214
|
0.00001
|
|
NM_001109809.5(ZFP57):c.805C>T (p.Arg269Trp)
|
rs770753045
|
0.00001
|
|
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile)
|
rs782791907
|
0.00001
|
|
NM_001110556.2(FLNA):c.1765G>A (p.Gly589Ser)
|
rs782371876
|
0.00001
|
|
NM_001110556.2(FLNA):c.2504C>T (p.Thr835Met)
|
rs782315127
|
0.00001
|
|
NM_001110556.2(FLNA):c.2671A>G (p.Lys891Glu)
|
rs1459255199
|
0.00001
|
|
NM_001110556.2(FLNA):c.4222G>A (p.Gly1408Ser)
|
rs797045578
|
0.00001
|
|
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser)
|
rs781993685
|
0.00001
|
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
|
NM_001110556.2(FLNA):c.6951C>T (p.Pro2317=)
|
rs782356784
|
0.00001
|
|
NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr)
|
rs1557175653
|
0.00001
|
|
NM_001110792.2(MECP2):c.1436C>G (p.Pro479Arg)
|
rs782042904
|
0.00001
|
|
NM_001110792.2(MECP2):c.252G>A (p.Pro84=)
|
rs781942427
|
0.00001
|
|
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg)
|
rs267608492
|
0.00001
|
|
NM_001111077.2(EZR):c.699-6C>T
|
rs1347478693
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3018C>A (p.Val1006=)
|
rs781902812
|
0.00001
|
|
NM_001113378.2(FANCI):c.2481A>T (p.Glu827Asp)
|
rs879531765
|
0.00001
|
|
NM_001113378.2(FANCI):c.2577G>C (p.Val859=)
|
rs562877308
|
0.00001
|
|
NM_001113378.2(FANCI):c.2918A>G (p.Gln973Arg)
|
rs780663944
|
0.00001
|
|
NM_001113378.2(FANCI):c.3186+7_3186+8insG
|
rs762412096
|
0.00001
|
|
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg)
|
rs1043718711
|
0.00001
|
|
NM_001113378.2(FANCI):c.3505A>G (p.Met1169Val)
|
rs757606290
|
0.00001
|
|
NM_001113378.2(FANCI):c.3721-7C>T
|
rs1434575390
|
0.00001
|
|
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val)
|
rs768553208
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*348G>A
|
rs1458061374
|
0.00001
|
|
NM_001114753.3(ENG):c.1273-5C>T
|
rs779103881
|
0.00001
|
|
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys)
|
rs745316066
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser)
|
rs773881541
|
0.00001
|
|
NM_001126049.2(KLLN):c.17C>T (p.Pro6Leu)
|
rs1261597861
|
0.00001
|
|
NM_001126049.2(KLLN):c.65T>A (p.Val22Asp)
|
rs1198301471
|
0.00001
|
|
NM_001126121.2(SLC25A19):c.414C>T (p.Pro138=)
|
rs532597121
|
0.00001
|
|
NM_001126121.2(SLC25A19):c.428G>A (p.Arg143His)
|
rs372219499
|
0.00001
|
|
NM_001127208.3(TET2):c.3109G>A (p.Ala1037Thr)
|
rs748334095
|
0.00001
|
|
NM_001127208.3(TET2):c.5599A>G (p.Thr1867Ala)
|
rs1731208938
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp)
|
rs773593740
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)
|
rs1064794263
|
0.00001
|
|
NM_001128126.3(AP4S1):c.210A>T (p.Gly70=)
|
rs765484259
|
0.00001
|
|
NM_001128178.3(NPHP1):c.1270-1G>A
|
rs376492641
|
0.00001
|
|
NM_001128178.3(NPHP1):c.356A>G (p.Glu119Gly)
|
rs745835094
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.2337-10T>C
|
rs770590034
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.3218G>A (p.Arg1073His)
|
rs758204752
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu)
|
rs770886605
|
0.00001
|
|
NM_001129820.2(SLFN14):c.2419C>A (p.Gln807Lys)
|
rs564352461
|
0.00001
|
|
NM_001130004.2(ACTN1):c.516-9C>T
|
rs1390864340
|
0.00001
|
|
NM_001130009.3(GEN1):c.364G>A (p.Glu122Lys)
|
rs201084834
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)
|
rs587784431
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)
|
rs370304886
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys)
|
rs587784436
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3415-9G>T
|
rs199802986
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup
|
rs797046004
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5149-10C>T
|
rs587784437
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.6763-7C>T
|
rs587784439
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=)
|
rs587784442
|
0.00001
|
|
NM_001130823.3(DNMT1):c.355A>G (p.Arg119Gly)
|
rs146516082
|
0.00001
|
|
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)
|
rs576460368
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.171C>T (p.Pro57=)
|
rs781693549
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.2247C>T (p.Thr749=)
|
rs202026070
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3619T>C (p.Tyr1207His)
|
rs587780355
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3636G>A (p.Thr1212=)
|
rs765614514
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.402C>T (p.Ile134=)
|
rs587780352
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.495T>C (p.Tyr165=)
|
rs569491666
|
0.00001
|
|
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)
|
rs538724792
|
0.00001
|
|
NM_001142784.3(IL11RA):c.1157C>A (p.Ala386Glu)
|
rs753830066
|
0.00001
|
|
NM_001143992.2(WRAP53):c.1040G>A (p.Arg347His)
|
rs371006232
|
0.00001
|
|
NM_001143992.2(WRAP53):c.1324A>G (p.Thr442Ala)
|
rs2074296761
|
0.00001
|
|
NM_001143992.2(WRAP53):c.350A>C (p.Glu117Ala)
|
rs148728256
|
0.00001
|
|
NM_001143992.2(WRAP53):c.621G>A (p.Glu207=)
|
rs200805760
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.1524G>C (p.Glu508Asp)
|
rs754444715
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.1603A>T (p.Thr535Ser)
|
rs756125925
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.1731C>T (p.Ile577=)
|
rs756282844
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile)
|
rs770244296
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.1982-9C>T
|
rs758604818
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.2343G>T (p.Gln781His)
|
rs748576558
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.2361G>A (p.Thr787=)
|
rs145964915
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.2473C>T (p.Arg825Trp)
|
rs35318201
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.2597C>T (p.Pro866Leu)
|
rs199948844
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.2662G>A (p.Val888Ile)
|
rs1397394319
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp)
|
rs563050274
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr)
|
rs1459705932
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter)
|
rs587780486
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.687G>A (p.Ser229=)
|
rs776317177
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.937C>T (p.Arg313Cys)
|
rs201224878
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.980A>G (p.Tyr327Cys)
|
rs587780483
|
0.00001
|
|
NM_001163809.2(WDR81):c.5225del (p.Leu1742fs)
|
rs775330887
|
0.00001
|
|
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg)
|
rs201071685
|
0.00001
|
|
NM_001164508.2(NEB):c.2211+5G>T
|
rs797045736
|
0.00001
|
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=)
|
rs121918763
|
0.00001
|
|
NM_001170629.2(CHD8):c.7115A>G (p.Asn2372Ser)
|
rs1169004595
|
0.00001
|
|
NM_001174150.2(ARL13B):c.1190T>G (p.Leu397Arg)
|
rs1180221965
|
0.00001
|
|
NM_001184.4(ATR):c.1350-3T>C
|
rs587783323
|
0.00001
|
|
NM_001184.4(ATR):c.196G>A (p.Val66Met)
|
rs758564083
|
0.00001
|
|
NM_001184.4(ATR):c.2092G>A (p.Asp698Asn)
|
rs1553770633
|
0.00001
|
|
NM_001184.4(ATR):c.2157C>T (p.His719=)
|
rs150161871
|
0.00001
|
|
NM_001184.4(ATR):c.4306A>G (p.Asn1436Asp)
|
rs587783328
|
0.00001
|
|
NM_001184.4(ATR):c.5732A>G (p.Asn1911Ser)
|
rs587783334
|
0.00001
|
|
NM_001184.4(ATR):c.7899A>G (p.Leu2633=)
|
rs147649584
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)
|
rs376390125
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=)
|
rs61742914
|
0.00001
|
|
NM_001184880.2(PCDH19):c.630G>A (p.Ala210=)
|
rs781763211
|
0.00001
|
|
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile)
|
rs587784298
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.179A>G (p.Glu60Gly)
|
rs587784387
|
0.00001
|
|
NM_001194998.2(CEP152):c.1008G>A (p.Leu336=)
|
rs1896842918
|
0.00001
|
|
NM_001194998.2(CEP152):c.2018+10A>G
|
rs374053407
|
0.00001
|
|
NM_001194998.2(CEP152):c.2019G>A (p.Arg673=)
|
rs587783418
|
0.00001
|
|
NM_001194998.2(CEP152):c.2362A>G (p.Thr788Ala)
|
rs587783420
|
0.00001
|
|
NM_001194998.2(CEP152):c.2827G>A (p.Glu943Lys)
|
rs552367317
|
0.00001
|
|
NM_001194998.2(CEP152):c.3781G>A (p.Gly1261Arg)
|
rs369980055
|
0.00001
|
|
NM_001194998.2(CEP152):c.5087G>A (p.Ser1696Asn)
|
rs1892706413
|
0.00001
|
|
NM_001194998.2(CEP152):c.5107G>T (p.Asp1703Tyr)
|
rs74746669
|
0.00001
|
|
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)
|
rs267606717
|
0.00001
|
|
NM_001195263.2(PDZD7):c.1113del (p.Thr372fs)
|
rs1280689930
|
0.00001
|
|
NM_001195553.2(DCX):c.339C>A (p.Ile113=)
|
rs587783543
|
0.00001
|
|
NM_001195553.2(DCX):c.587G>A (p.Arg196His)
|
rs56030372
|
0.00001
|
|
NM_001195553.2(DCX):c.777T>C (p.Tyr259=)
|
rs747557639
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val)
|
rs748759187
|
0.00001
|
|
NM_001199397.3(NEK1):c.3054G>C (p.Val1018=)
|
rs142337223
|
0.00001
|
|
NM_001205254.2(OCLN):c.659A>G (p.Tyr220Cys)
|
rs777860360
|
0.00001
|
|
NM_001206744.2(TPO):c.1169T>A (p.Phe390Tyr)
|
rs756130890
|
0.00001
|
|
NM_001206999.2(CIT):c.4807G>T (p.Val1603Phe)
|
rs752909961
|
0.00001
|
|
NM_001206999.2(CIT):c.5861G>A (p.Arg1954Gln)
|
rs756807158
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.298G>A (p.Val100Met)
|
rs797045522
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3158G>T (p.Cys1053Phe)
|
rs771407307
|
0.00001
|
|
NM_001244008.2(KIF1A):c.1341+8C>T
|
rs749268264
|
0.00001
|
|
NM_001244008.2(KIF1A):c.231C>T (p.Ile77=)
|
rs530669240
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=)
|
rs370648599
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2954G>A (p.Arg985His)
|
rs772779524
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=)
|
rs542427011
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3580C>T (p.Leu1194Phe)
|
rs901485293
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4004A>G (p.Asp1335Gly)
|
rs747271930
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His)
|
rs755301795
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4750G>A (p.Glu1584Lys)
|
rs770455518
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu)
|
rs184939069
|
0.00001
|
|
NM_001244008.2(KIF1A):c.560C>T (p.Thr187Ile)
|
rs370623844
|
0.00001
|
|
NM_001244710.2(GFPT1):c.634C>T (p.Arg212Trp)
|
rs1268229556
|
0.00001
|
|
NM_001247997.2(CLIP1):c.1204-3C>T
|
rs1430348466
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1111A>G (p.Ile371Val)
|
rs797045242
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1284G>A (p.Glu428=)
|
rs752215351
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1894G>C (p.Glu632Gln)
|
rs186623784
|
0.00001
|
|
NM_001253852.3(AP4B1):c.2035T>G (p.Trp679Gly)
|
rs797045243
|
0.00001
|
|
NM_001257180.2(SLC20A2):c.1150A>T (p.Asn384Tyr)
|
rs1185417891
|
0.00001
|
|
NM_001258392.3(CLPB):c.829C>T (p.Arg277Ter)
|
rs1466435969
|
0.00001
|
|
NM_001267550.2(TTN):c.10182A>G (p.Gln3394=)
|
rs797046059
|
0.00001
|
|
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)
|
rs528502993
|
0.00001
|
|
NM_001267550.2(TTN):c.15040A>T (p.Thr5014Ser)
|
rs143093473
|
0.00001
|
|
NM_001267550.2(TTN):c.15688G>A (p.Val5230Ile)
|
rs369294144
|
0.00001
|
|
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)
|
rs372277017
|
0.00001
|
|
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)
|
rs377193479
|
0.00001
|
|
NM_001267550.2(TTN):c.20633A>C (p.Glu6878Ala)
|
rs752107739
|
0.00001
|
|
NM_001267550.2(TTN):c.24888T>C (p.Ser8296=)
|
rs535603112
|
0.00001
|
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
|
NM_001267550.2(TTN):c.34612+1G>A
|
rs577363824
|
0.00001
|
|
NM_001267550.2(TTN):c.39282T>C (p.Ser13094=)
|
rs773883685
|
0.00001
|
|
NM_001267550.2(TTN):c.39284C>A (p.Pro13095His)
|
rs770419196
|
0.00001
|
|
NM_001267550.2(TTN):c.4117G>A (p.Ala1373Thr)
|
rs867802403
|
0.00001
|
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
|
NM_001267550.2(TTN):c.48334C>G (p.Leu16112Val)
|
rs747917712
|
0.00001
|
|
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=)
|
rs397517598
|
0.00001
|
|
NM_001267550.2(TTN):c.5397T>G (p.Ser1799Arg)
|
rs797046065
|
0.00001
|
|
NM_001267550.2(TTN):c.56963-3C>T
|
rs375979145
|
0.00001
|
|
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=)
|
rs587780489
|
0.00001
|
|
NM_001267550.2(TTN):c.75329G>A (p.Arg25110Gln)
|
rs757674072
|
0.00001
|
|
NM_001267550.2(TTN):c.7570A>T (p.Thr2524Ser)
|
rs797046067
|
0.00001
|
|
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)
|
rs374494927
|
0.00001
|
|
NM_001267550.2(TTN):c.7783A>G (p.Met2595Val)
|
rs760786665
|
0.00001
|
|
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)
|
rs532818379
|
0.00001
|
|
NM_001267550.2(TTN):c.97285G>A (p.Gly32429Ser)
|
rs397517768
|
0.00001
|
|
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln)
|
rs369237346
|
0.00001
|
|
NM_001271938.2(MEGF8):c.1893G>C (p.Leu631=)
|
rs757134743
|
0.00001
|
|
NM_001276270.2(MBD4):c.1372A>G (p.Ile458Val)
|
rs527715494
|
0.00001
|
|
NM_001278116.2(L1CAM):c.1187C>A (p.Pro396His)
|
rs781830365
|
0.00001
|
|
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=)
|
rs201886318
|
0.00001
|
|
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val)
|
rs781860875
|
0.00001
|
|
NM_001278116.2(L1CAM):c.91+1G>T
|
rs797045676
|
0.00001
|
|
NM_001282531.3(ADNP):c.197A>G (p.Asn66Ser)
|
rs1255162432
|
0.00001
|
|
NM_001282531.3(ADNP):c.2466G>A (p.Val822=)
|
rs142832192
|
0.00001
|
|
NM_001282531.3(ADNP):c.3092G>A (p.Ser1031Asn)
|
rs1392946940
|
0.00001
|
|
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser)
|
rs764665173
|
0.00001
|
|
NM_001283009.2(RTEL1):c.191G>A (p.Arg64Gln)
|
rs146544609
|
0.00001
|
|
NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn)
|
rs781231332
|
0.00001
|
|
NM_001283009.2(RTEL1):c.2705C>G (p.Ala902Gly)
|
rs1394884130
|
0.00001
|
|
NM_001283009.2(RTEL1):c.2851G>A (p.Gly951Ser)
|
rs6089959
|
0.00001
|
|
NM_001283009.2(RTEL1):c.2852-9C>T
|
rs375886371
|
0.00001
|
|
NM_001283009.2(RTEL1):c.2919A>G (p.Gly973=)
|
rs767648957
|
0.00001
|
|
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr)
|
rs148621466
|
0.00001
|
|
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=)
|
rs797045923
|
0.00001
|
|
NM_001283009.2(RTEL1):c.3870C>T (p.Ser1290=)
|
rs765090741
|
0.00001
|
|
NM_001291303.3(FAT4):c.14726C>T (p.Ala4909Val)
|
rs373253210
|
0.00001
|
|
NM_001291303.3(FAT4):c.8332A>C (p.Ile2778Leu)
|
rs773858750
|
0.00001
|
|
NM_001291415.2(KDM6A):c.2522A>G (p.Asn841Ser)
|
rs747545667
|
0.00001
|
|
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln)
|
rs370765411
|
0.00001
|
|
NM_001291867.2(NHS):c.1415T>C (p.Ile472Thr)
|
rs751213969
|
0.00001
|
|
NM_001291867.2(NHS):c.3262C>A (p.His1088Asn)
|
rs924426347
|
0.00001
|
|
NM_001308093.3(GATA4):c.491C>T (p.Ala164Val)
|
rs1425061772
|
0.00001
|
|
NM_001308093.3(GATA4):c.588C>T (p.Ala196=)
|
rs1060503829
|
0.00001
|
|
NM_001308093.3(GATA4):c.618A>G (p.Val206=)
|
rs1405855570
|
0.00001
|
|
NM_001312909.2(FAM111A):c.563C>G (p.Ala188Gly)
|
rs574553791
|
0.00001
|
|
NM_001318510.2(ACSL4):c.1459A>G (p.Met487Val)
|
rs797045215
|
0.00001
|
|
NM_001318510.2(ACSL4):c.1583-7_1583-6del
|
rs797045216
|
0.00001
|
|
NM_001318510.2(ACSL4):c.284A>G (p.Asn95Ser)
|
rs587780270
|
0.00001
|
|
NM_001318510.2(ACSL4):c.90A>G (p.Ile30Met)
|
rs750659716
|
0.00001
|
|
NM_001318510.2(ACSL4):c.94A>G (p.Ile32Val)
|
rs767663900
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg)
|
rs267608631
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala)
|
rs587783400
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala)
|
rs376341076
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=)
|
rs371603866
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg)
|
rs398123694
|
0.00001
|
|
NM_001323289.2(CDKL5):c.65-4A>G
|
rs777490768
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4323+1G>C
|
rs1416765367
|
0.00001
|
|
NM_001330078.2(NRXN1):c.1296C>T (p.Asn432=)
|
rs1259694734
|
0.00001
|
|
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=)
|
rs201485014
|
0.00001
|
|
NM_001330078.2(NRXN1):c.2075G>A (p.Arg692Lys)
|
rs797045796
|
0.00001
|
|
NM_001330078.2(NRXN1):c.668G>A (p.Gly223Asp)
|
rs200490872
|
0.00001
|
|
NM_001330078.2(NRXN1):c.772+1024C>G
|
rs199645252
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu)
|
rs1198276041
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)
|
rs756127631
|
0.00001
|
|
NM_001347721.2(DYRK1A):c.1339A>G (p.Ile447Val)
|
rs1268200083
|
0.00001
|
|
NM_001347721.2(DYRK1A):c.1555C>T (p.Arg519Trp)
|
rs1448604709
|
0.00001
|
|
NM_001347721.2(DYRK1A):c.1732A>G (p.Thr578Ala)
|
rs368101780
|
0.00001
|
|
NM_001347721.2(DYRK1A):c.2085C>G (p.Val695=)
|
rs372748919
|
0.00001
|
|
NM_001348800.3(ZBTB20):c.189G>C (p.Gly63=)
|
rs1236262753
|
0.00001
|
|
NM_001353108.3(CEP63):c.1069T>C (p.Leu357=)
|
rs797045458
|
0.00001
|
|
NM_001353108.3(CEP63):c.1604A>G (p.Lys535Arg)
|
rs746682690
|
0.00001
|
|
NM_001353108.3(CEP63):c.282G>A (p.Met94Ile)
|
rs544307188
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.668G>A (p.Arg223His)
|
rs1556365349
|
0.00001
|
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
|
NM_001360.3(DHCR7):c.821A>G (p.Asn274Ser)
|
rs774275482
|
0.00001
|
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
|
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg)
|
rs370788135
|
0.00001
|
|
NM_001363.5(DKC1):c.16+5G>A
|
rs1242996115
|
0.00001
|
|
NM_001363.5(DKC1):c.468T>A (p.Ile156=)
|
rs782504051
|
0.00001
|
|
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys)
|
rs782345472
|
0.00001
|
|
NM_001364905.1(LRBA):c.4919T>C (p.Val1640Ala)
|
rs773862243
|
0.00001
|
|
NM_001364905.1(LRBA):c.7690A>G (p.Ile2564Val)
|
rs200047974
|
0.00001
|
|
NM_001364905.1(LRBA):c.84T>C (p.Thr28=)
|
rs747704683
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)
|
rs199747285
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.940A>T (p.Met314Leu)
|
rs34491959
|
0.00001
|
|
NM_001365536.1(SCN9A):c.4043A>G (p.Tyr1348Cys)
|
rs587780456
|
0.00001
|
|
NM_001365536.1(SCN9A):c.4261-3T>C
|
rs773953311
|
0.00001
|
|
NM_001365536.1(SCN9A):c.990T>C (p.Cys330=)
|
rs1384436013
|
0.00001
|
|
NM_001365999.1(SZT2):c.2477G>A (p.Arg826Gln)
|
rs752495437
|
0.00001
|
|
NM_001365999.1(SZT2):c.5316A>G (p.Glu1772=)
|
rs797046032
|
0.00001
|
|
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs)
|
rs756942804
|
0.00001
|
|
NM_001365999.1(SZT2):c.9269G>A (p.Arg3090His)
|
rs374490896
|
0.00001
|
|
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)
|
rs587780414
|
0.00001
|
|
NM_001366110.1(PAX4):c.545C>T (p.Ala182Val)
|
rs1290905638
|
0.00001
|
|
NM_001366722.1(GRIP1):c.2882G>A (p.Arg961Gln)
|
rs570235851
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3246G>T (p.Leu1082Phe)
|
rs758712631
|
0.00001
|
|
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu)
|
rs957402222
|
0.00001
|
|
NM_001367721.1(CASK):c.2019T>G (p.Pro673=)
|
rs546044640
|
0.00001
|
|
NM_001367721.1(CASK):c.2325C>T (p.Thr775=)
|
rs760957859
|
0.00001
|
|
NM_001368397.1(FRMPD4):c.1423G>A (p.Glu475Lys)
|
rs761416670
|
0.00001
|
|
NM_001368397.1(FRMPD4):c.2154C>T (p.Asn718=)
|
rs797045589
|
0.00001
|
|
NM_001368397.1(FRMPD4):c.222G>A (p.Pro74=)
|
rs779251615
|
0.00001
|
|
NM_001370100.5(ZMYND11):c.1467G>T (p.Glu489Asp)
|
rs763216882
|
0.00001
|
|
NM_001370100.5(ZMYND11):c.1470A>G (p.Thr490=)
|
rs1437939162
|
0.00001
|
|
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)
|
rs761102084
|
0.00001
|
|
NM_001370259.2(MEN1):c.1186-6G>A
|
rs576193460
|
0.00001
|
|
NM_001370259.2(MEN1):c.189C>G (p.Phe63Leu)
|
rs137880635
|
0.00001
|
|
NM_001370259.2(MEN1):c.570G>A (p.Gly190=)
|
rs547249181
|
0.00001
|
|
NM_001371928.1(AHDC1):c.1090C>T (p.Arg364Cys)
|
rs746067316
|
0.00001
|
|
NM_001372044.2(SHANK3):c.1878+5G>A
|
rs765071859
|
0.00001
|
|
NM_001372044.2(SHANK3):c.2145G>A (p.Lys715=)
|
rs373607816
|
0.00001
|
|
NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu)
|
rs1464985103
|
0.00001
|
|
NM_001374353.1(GLI2):c.3035C>T (p.Pro1012Leu)
|
rs765093621
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1410C>T (p.Ala470=)
|
rs1401866270
|
0.00001
|
|
NM_001374828.1(ARID1B):c.247A>G (p.Asn83Asp)
|
rs797045266
|
0.00001
|
|
NM_001374828.1(ARID1B):c.283G>A (p.Gly95Ser)
|
rs797045273
|
0.00001
|
|
NM_001374828.1(ARID1B):c.347C>T (p.Ala116Val)
|
rs1325414473
|
0.00001
|
|
NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=)
|
rs371828409
|
0.00001
|
|
NM_001374828.1(ARID1B):c.3628G>A (p.Val1210Ile)
|
rs758353662
|
0.00001
|
|
NM_001374828.1(ARID1B):c.4086A>G (p.Pro1362=)
|
rs768227723
|
0.00001
|
|
NM_001374828.1(ARID1B):c.4611G>A (p.Pro1537=)
|
rs749608995
|
0.00001
|
|
NM_001374828.1(ARID1B):c.5027C>T (p.Ala1676Val)
|
rs762698567
|
0.00001
|
|
NM_001374828.1(ARID1B):c.5031C>T (p.Pro1677=)
|
rs770164775
|
0.00001
|
|
NM_001374828.1(ARID1B):c.5240G>A (p.Arg1747Gln)
|
rs762183842
|
0.00001
|
|
NM_001374828.1(ARID1B):c.6019C>T (p.Arg2007Trp)
|
rs1377877762
|
0.00001
|
|
NM_001374828.1(ARID1B):c.6258C>G (p.Ala2086=)
|
rs781082506
|
0.00001
|
|
NM_001374828.1(ARID1B):c.6590C>T (p.Ser2197Leu)
|
rs149978361
|
0.00001
|
|
NM_001374828.1(ARID1B):c.6796G>A (p.Ala2266Thr)
|
rs530084903
|
0.00001
|
|
NM_001374828.1(ARID1B):c.7031G>A (p.Arg2344Gln)
|
rs1302430069
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.10656C>T (p.Tyr3552=)
|
rs587780329
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.10832G>A (p.Arg3611Gln)
|
rs760957660
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.11721C>A (p.His3907Gln)
|
rs774840535
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.11785G>A (p.Val3929Met)
|
rs867293260
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr)
|
rs879254018
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.13107G>A (p.Thr4369=)
|
rs369577172
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.1318A>C (p.Arg440=)
|
rs1566997890
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.13413C>T (p.Ala4471=)
|
rs776463183
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser)
|
rs571005578
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.13750G>A (p.Ala4584Thr)
|
rs544608488
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu)
|
rs775528195
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.3396G>A (p.Gly1132=)
|
rs202121407
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.3747C>T (p.Ala1249=)
|
rs748930886
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.3804G>A (p.Thr1268=)
|
rs757595764
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.4542+6G>A
|
rs375822798
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.4699C>A (p.Arg1567=)
|
rs377013246
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.7190G>A (p.Arg2397Gln)
|
rs751820545
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=)
|
rs587780330
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.7403A>T (p.Asn2468Ile)
|
rs797045532
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.8876A>G (p.Tyr2959Cys)
|
rs797045536
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.9403C>A (p.Gln3135Lys)
|
rs1049866462
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.9975C>T (p.Cys3325=)
|
rs1274600876
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.11392A>G (p.Thr3798Ala)
|
rs764785064
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His)
|
rs201484896
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.2702+9G>C
|
rs373942624
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.3194A>G (p.Asp1065Gly)
|
rs1015404794
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.3365A>C (p.Lys1122Thr)
|
rs749093220
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.8946+10A>C
|
rs550521675
|
0.00001
|
|
NM_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr)
|
rs753406078
|
0.00001
|
|
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)
|
rs536900412
|
0.00001
|
|
NM_001378120.1(MBD5):c.195A>G (p.Glu65=)
|
rs1480609393
|
0.00001
|
|
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)
|
rs749163361
|
0.00001
|
|
NM_001378120.1(MBD5):c.2173G>T (p.Ala725Ser)
|
rs747127657
|
0.00001
|
|
NM_001378120.1(MBD5):c.3754-6T>C
|
rs149825755
|
0.00001
|
|
NM_001378120.1(MBD5):c.3791G>T (p.Arg1264Ile)
|
rs1553520435
|
0.00001
|
|
NM_001378120.1(MBD5):c.4671T>C (p.Ser1557=)
|
rs765702142
|
0.00001
|
|
NM_001378120.1(MBD5):c.4951G>A (p.Glu1651Lys)
|
rs577955398
|
0.00001
|
|
NM_001378418.1(TCF20):c.3972T>C (p.Asp1324=)
|
rs1421286086
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser)
|
rs376750978
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr)
|
rs1337404560
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)
|
rs539612316
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)
|
rs546111188
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile)
|
rs1026749292
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser)
|
rs377085127
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile)
|
rs1672944551
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)
|
rs777796888
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr)
|
rs773480197
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)
|
rs368720062
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)
|
rs386833763
|
0.00001
|
|
NM_001378778.1(MPDZ):c.5634T>C (p.Ala1878=)
|
rs763333032
|
0.00001
|
|
NM_001378778.1(MPDZ):c.663C>T (p.Ala221=)
|
rs35476999
|
0.00001
|
|
NM_001379110.1(SLC9A6):c.1768-6A>G
|
rs1556623179
|
0.00001
|
|
NM_001379110.1(SLC9A6):c.256A>G (p.Ser86Gly)
|
rs587784401
|
0.00001
|
|
NM_001379110.1(SLC9A6):c.529A>G (p.Ile177Val)
|
rs587784402
|
0.00001
|
|
NM_001379403.1(WDR26):c.2182A>G (p.Met728Val)
|
rs1264925644
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2182C>G (p.Pro728Ala)
|
rs1467926733
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4739T>C (p.Phe1580Ser)
|
rs1027538017
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4997A>T (p.Asn1666Ile)
|
rs748543409
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7400+1G>A
|
rs367543062
|
0.00001
|
|
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu)
|
rs540935486
|
0.00001
|
|
NM_001429.4(EP300):c.5601G>A (p.Gln1867=)
|
rs1250353355
|
0.00001
|
|
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser)
|
rs779543207
|
0.00001
|
|
NM_001458.5(FLNC):c.4626G>A (p.Val1542=)
|
rs776682674
|
0.00001
|
|
NM_001458.5(FLNC):c.5805G>A (p.Lys1935=)
|
rs759262897
|
0.00001
|
|
NM_001493.3(GDI1):c.338G>A (p.Gly113Glu)
|
rs1557198365
|
0.00001
|
|
NM_001543.5(NDST1):c.1137G>A (p.Ser379=)
|
rs560999923
|
0.00001
|
|
NM_001543.5(NDST1):c.1696T>C (p.Leu566=)
|
rs554640817
|
0.00001
|
|
NM_001543.5(NDST1):c.1971-10C>G
|
rs758657857
|
0.00001
|
|
NM_001543.5(NDST1):c.2146-7C>T
|
rs746605653
|
0.00001
|
|
NM_001543.5(NDST1):c.629C>T (p.Thr210Met)
|
rs767336817
|
0.00001
|
|
NM_001543.5(NDST1):c.828C>A (p.Ile276=)
|
rs764647790
|
0.00001
|
|
NM_001543.5(NDST1):c.882C>T (p.Phe294=)
|
rs375114031
|
0.00001
|
|
NM_001551.3(IGBP1):c.27G>T (p.Leu9=)
|
rs2085078922
|
0.00001
|
|
NM_001551.3(IGBP1):c.715C>T (p.Pro239Ser)
|
rs1412238750
|
0.00001
|
|
NM_001614.5(ACTG1):c.294G>A (p.Pro98=)
|
rs1157976912
|
0.00001
|
|
NM_001614.5(ACTG1):c.519C>T (p.His173=)
|
rs781859294
|
0.00001
|
|
NM_001626.6(AKT2):c.96C>T (p.Asp32=)
|
rs543943324
|
0.00001
|
|
NM_001715.3(BLK):c.369-10C>T
|
rs750408108
|
0.00001
|
|
NM_001715.3(BLK):c.738A>G (p.Lys246=)
|
rs1481127983
|
0.00001
|
|
NM_001754.5(RUNX1):c.1323G>C (p.Leu441=)
|
rs1394924518
|
0.00001
|
|
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu)
|
rs752298116
|
0.00001
|
|
NM_001754.5(RUNX1):c.352-1G>A
|
rs587776809
|
0.00001
|
|
NM_001754.5(RUNX1):c.619C>T (p.Arg207Trp)
|
rs1555890007
|
0.00001
|
|
NM_001754.5(RUNX1):c.729A>C (p.Pro243=)
|
rs999807714
|
0.00001
|
|
NM_001807.6(CEL):c.178A>G (p.Lys60Glu)
|
rs1433124386
|
0.00001
|
|
NM_001807.6(CEL):c.979G>A (p.Ala327Thr)
|
rs751119069
|
0.00001
|
|
NM_001830.4(CLCN4):c.1295G>A (p.Arg432Gln)
|
rs752631287
|
0.00001
|
|
NM_001843.4(CNTN1):c.1814G>A (p.Gly605Asp)
|
rs767086250
|
0.00001
|
|
NM_001843.4(CNTN1):c.271T>C (p.Tyr91His)
|
rs780622172
|
0.00001
|
|
NM_001848.3(COL6A1):c.2465-4G>A
|
rs769559126
|
0.00001
|
|
NM_001875.5(CPS1):c.937A>G (p.Met313Val)
|
rs587780323
|
0.00001
|
|
NM_001904.4(CTNNB1):c.125C>T (p.Thr42Ile)
|
rs769203968
|
0.00001
|
|
NM_001905.4(CTPS1):c.1734T>C (p.Ser578=)
|
rs768984457
|
0.00001
|
|
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg)
|
rs568474579
|
0.00001
|
|
NM_001972.4(ELANE):c.352A>G (p.Ile118Val)
|
rs1382122842
|
0.00001
|
|
NM_001972.4(ELANE):c.450G>A (p.Gln150=)
|
rs761830204
|
0.00001
|
|
NM_001987.5(ETV6):c.1143A>T (p.Gly381=)
|
rs925111872
|
0.00001
|
|
NM_001987.5(ETV6):c.349C>T (p.Leu117Phe)
|
rs765265003
|
0.00001
|
|
NM_001987.5(ETV6):c.495C>T (p.Ser165=)
|
rs754056015
|
0.00001
|
|
NM_001987.5(ETV6):c.51T>C (p.Tyr17=)
|
rs144055004
|
0.00001
|
|
NM_002024.6(FMR1):c.374C>T (p.Thr125Ile)
|
rs797045582
|
0.00001
|
|
NM_002025.4(AFF2):c.3138G>A (p.Ala1046=)
|
rs974621684
|
0.00001
|
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
|
NM_002067.5(GNA11):c.987G>A (p.Thr329=)
|
rs375856122
|
0.00001
|
|
NM_002087.4(GRN):c.1486G>A (p.Glu496Lys)
|
rs764615963
|
0.00001
|
|
NM_002113.3(CFHR1):c.652G>A (p.Asp218Asn)
|
rs774499959
|
0.00001
|
|
NM_002168.4(IDH2):c.374-10G>A
|
rs587783665
|
0.00001
|
|
NM_002206.3(ITGA7):c.3323G>A (p.Arg1108Gln)
|
rs201709662
|
0.00001
|
|
NM_002206.3(ITGA7):c.7G>A (p.Gly3Arg)
|
rs544939783
|
0.00001
|
|
NM_002241.5(KCNJ10):c.115G>A (p.Val39Met)
|
rs1274663711
|
0.00001
|
|
NM_002241.5(KCNJ10):c.274G>T (p.Ala92Ser)
|
rs1314505994
|
0.00001
|
|
NM_002241.5(KCNJ10):c.501G>A (p.Ala167=)
|
rs200522826
|
0.00001
|
|
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln)
|
rs397514673
|
0.00001
|
|
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
|
rs138943405
|
0.00001
|
|
NM_002291.3(LAMB1):c.1698+9G>C
|
rs776883875
|
0.00001
|
|
NM_002291.3(LAMB1):c.1792G>C (p.Glu598Gln)
|
rs763611676
|
0.00001
|
|
NM_002291.3(LAMB1):c.1944C>T (p.Pro648=)
|
rs751175194
|
0.00001
|
|
NM_002291.3(LAMB1):c.4067T>C (p.Val1356Ala)
|
rs755210804
|
0.00001
|
|
NM_002291.3(LAMB1):c.544A>G (p.Met182Val)
|
rs777529426
|
0.00001
|
|
NM_002303.6(LEPR):c.1785T>G (p.Ser595=)
|
rs1403870461
|
0.00001
|
|
NM_002303.6(LEPR):c.3069T>C (p.Ser1023=)
|
rs761898928
|
0.00001
|
|
NM_002303.6(LEPR):c.3253A>G (p.Ile1085Val)
|
rs754019392
|
0.00001
|
|
NM_002334.4(LRP4):c.563C>T (p.Ala188Val)
|
rs772245536
|
0.00001
|
|
NM_002354.3(EPCAM):c.433A>G (p.Ile145Val)
|
rs1481507644
|
0.00001
|
|
NM_002354.3(EPCAM):c.514A>G (p.Thr172Ala)
|
rs754496546
|
0.00001
|
|
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)
|
rs771696396
|
0.00001
|
|
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr)
|
rs797045703
|
0.00001
|
|
NM_002397.5(MEF2C):c.531G>A (p.Leu177=)
|
rs371858773
|
0.00001
|
|
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)
|
rs398123686
|
0.00001
|
|
NM_002449.5(MSX2):c.375G>T (p.Pro125=)
|
rs797045708
|
0.00001
|
|
NM_002472.3(MYH8):c.1770C>T (p.Asp590=)
|
rs1555557227
|
0.00001
|
|
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)
|
rs756023239
|
0.00001
|
|
NM_002485.5(NBN):c.1091T>C (p.Val364Ala)
|
rs370229163
|
0.00001
|
|
NM_002485.5(NBN):c.1888T>C (p.Ser630Pro)
|
rs377132067
|
0.00001
|
|
NM_002485.5(NBN):c.2071-4A>G
|
rs746994234
|
0.00001
|
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
|
NM_002485.5(NBN):c.584+9T>C
|
rs746913991
|
0.00001
|
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
|
NM_002519.3(NPAT):c.1884G>A (p.Ser628=)
|
rs117448150
|
0.00001
|
|
NM_002519.3(NPAT):c.2902-9C>A
|
rs1208509507
|
0.00001
|
|
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp)
|
rs1055874267
|
0.00001
|
|
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=)
|
rs748176965
|
0.00001
|
|
NM_002578.5(PAK3):c.554A>C (p.Asn185Thr)
|
rs751517340
|
0.00001
|
|
NM_002578.5(PAK3):c.68G>A (p.Arg23Gln)
|
rs768347607
|
0.00001
|
|
NM_002582.4(PARN):c.1277G>A (p.Arg426Lys)
|
rs1267290979
|
0.00001
|
|
NM_002582.4(PARN):c.1514G>A (p.Arg505Gln)
|
rs760452316
|
0.00001
|
|
NM_002582.4(PARN):c.178-10C>T
|
rs1328915368
|
0.00001
|
|
NM_002641.4(PIGA):c.232A>G (p.Lys78Glu)
|
rs776182358
|
0.00001
|
|
NM_002666.5(PLIN1):c.373C>T (p.Arg125Cys)
|
rs749463650
|
0.00001
|
|
NM_002691.4(POLD1):c.1054C>T (p.Arg352Cys)
|
rs762330164
|
0.00001
|
|
NM_002691.4(POLD1):c.2372G>A (p.Arg791Gln)
|
rs1174011798
|
0.00001
|
|
NM_002691.4(POLD1):c.2388+3G>A
|
rs765678563
|
0.00001
|
|
NM_002691.4(POLD1):c.2781C>T (p.Ile927=)
|
rs1429621911
|
0.00001
|
|
NM_002691.4(POLD1):c.2787C>T (p.Ala929=)
|
rs1057522848
|
0.00001
|
|
NM_002691.4(POLD1):c.2833G>A (p.Val945Met)
|
rs565328583
|
0.00001
|
|
NM_002691.4(POLD1):c.2865G>A (p.Gln955=)
|
rs878854544
|
0.00001
|
|
NM_002691.4(POLD1):c.3006C>T (p.Leu1002=)
|
rs759600947
|
0.00001
|
|
NM_002691.4(POLD1):c.917G>A (p.Arg306His)
|
rs781682472
|
0.00001
|
|
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)
|
rs121918051
|
0.00001
|
|
NM_002739.5(PRKCG):c.955C>A (p.Pro319Thr)
|
rs367543214
|
0.00001
|
|
NM_002834.5(PTPN11):c.951G>A (p.Lys317=)
|
rs576405446
|
0.00001
|
|
NM_002875.5(RAD51):c.109G>A (p.Asp37Asn)
|
rs1428987216
|
0.00001
|
|
NM_002875.5(RAD51):c.402C>T (p.Thr134=)
|
rs774860635
|
0.00001
|
|
NM_002875.5(RAD51):c.570A>G (p.Ala190=)
|
rs1896717353
|
0.00001
|
|
NM_002878.4(RAD51D):c.431C>T (p.Ser144Phe)
|
rs587781875
|
0.00001
|
|
NM_002878.4(RAD51D):c.49A>G (p.Ile17Val)
|
rs1002032036
|
0.00001
|
|
NM_002894.3(RBBP8):c.2530C>G (p.Pro844Ala)
|
rs757252674
|
0.00001
|
|
NM_002894.3(RBBP8):c.335A>G (p.Gln112Arg)
|
rs757622472
|
0.00001
|
|
NM_003000.3(SDHB):c.696C>T (p.Ala232=)
|
rs779143585
|
0.00001
|
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
|
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)
|
rs764575966
|
0.00001
|
|
NM_003002.4(SDHD):c.49C>G (p.Arg17Gly)
|
rs1314133983
|
0.00001
|
|
NM_003038.5(SLC1A4):c.1353G>A (p.Val451=)
|
rs531478111
|
0.00001
|
|
NM_003051.4(SLC16A1):c.186C>T (p.Ser62=)
|
rs767004312
|
0.00001
|
|
NM_003051.4(SLC16A1):c.762C>T (p.Asp254=)
|
rs753981488
|
0.00001
|
|
NM_003070.5(SMARCA2):c.1174-10T>C
|
rs752815708
|
0.00001
|
|
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr)
|
rs1388950613
|
0.00001
|
|
NM_003070.5(SMARCA2):c.3384T>C (p.Ala1128=)
|
rs1349482784
|
0.00001
|
|
NM_003070.5(SMARCA2):c.4164C>T (p.Asn1388=)
|
rs759832527
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2418C>T (p.Phe806=)
|
rs770432256
|
0.00001
|
|
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val)
|
rs746602808
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3546+9G>A
|
rs544551192
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp)
|
rs587779750
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=)
|
rs372620534
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)
|
rs372319442
|
0.00001
|
|
NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr)
|
rs1344296942
|
0.00001
|
|
NM_003108.4(SOX11):c.306G>A (p.Ala102=)
|
rs760507252
|
0.00001
|
|
NM_003108.4(SOX11):c.951C>T (p.Asn317=)
|
rs750390370
|
0.00001
|
|
NM_003119.4(SPG7):c.1552+2dup
|
rs1567928509
|
0.00001
|
|
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
|
rs1329063851
|
0.00001
|
|
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)
|
rs752989523
|
0.00001
|
|
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter)
|
rs779055639
|
0.00001
|
|
NM_003119.4(SPG7):c.988-1G>A
|
rs748309520
|
0.00001
|
|
NM_003165.6(STXBP1):c.1755C>T (p.Pro585=)
|
rs781575209
|
0.00001
|
|
NM_003184.4(TAF2):c.855T>C (p.His285=)
|
rs191349554
|
0.00001
|
|
NM_003235.5(TG):c.1027G>A (p.Gly343Arg)
|
rs1385670566
|
0.00001
|
|
NM_003355.3(UCP2):c.119G>A (p.Arg40Gln)
|
rs45574134
|
0.00001
|
|
NM_003355.3(UCP2):c.59C>T (p.Ala20Val)
|
rs774480323
|
0.00001
|
|
NM_003355.3(UCP2):c.799C>T (p.Arg267Ter)
|
rs748009040
|
0.00001
|
|
NM_003355.3(UCP2):c.800G>A (p.Arg267Gln)
|
rs753260142
|
0.00001
|
|
NM_003356.4(UCP3):c.905T>G (p.Met302Arg)
|
rs757685199
|
0.00001
|
|
NM_003383.5(VLDLR):c.1246G>A (p.Gly416Ser)
|
rs146889983
|
0.00001
|
|
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln)
|
rs137946976
|
0.00001
|
|
NM_003383.5(VLDLR):c.1782G>A (p.Leu594=)
|
rs376819187
|
0.00001
|
|
NM_003383.5(VLDLR):c.83-1G>A
|
rs770269674
|
0.00001
|
|
NM_003466.4(PAX8):c.257C>G (p.Pro86Arg)
|
rs746024925
|
0.00001
|
|
NM_003467.3(CXCR4):c.137C>G (p.Ser46Cys)
|
rs147467366
|
0.00001
|
|
NM_003467.3(CXCR4):c.269C>T (p.Thr90Met)
|
rs756830956
|
0.00001
|
|
NM_003467.3(CXCR4):c.747C>A (p.Phe249Leu)
|
rs779760942
|
0.00001
|
|
NM_003467.3(CXCR4):c.826T>A (p.Phe276Ile)
|
rs751975722
|
0.00001
|
|
NM_003482.4(KMT2D):c.1042C>T (p.Arg348Cys)
|
rs746039927
|
0.00001
|
|
NM_003482.4(KMT2D):c.12610G>A (p.Val4204Ile)
|
rs202126693
|
0.00001
|
|
NM_003482.4(KMT2D):c.14028G>T (p.Leu4676=)
|
rs1464807705
|
0.00001
|
|
NM_003482.4(KMT2D):c.1447T>C (p.Leu483=)
|
rs538588651
|
0.00001
|
|
NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His)
|
rs587783694
|
0.00001
|
|
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln)
|
rs761108868
|
0.00001
|
|
NM_003482.4(KMT2D):c.1759G>C (p.Glu587Gln)
|
rs199980307
|
0.00001
|
|
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=)
|
rs1368572
|
0.00001
|
|
NM_003482.4(KMT2D):c.5966C>T (p.Thr1989Met)
|
rs754420100
|
0.00001
|
|
NM_003482.4(KMT2D):c.6441G>A (p.Ala2147=)
|
rs763357891
|
0.00001
|
|
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr)
|
rs587783724
|
0.00001
|
|
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp)
|
rs587783726
|
0.00001
|
|
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=)
|
rs3741625
|
0.00001
|
|
NM_003482.4(KMT2D):c.7841C>T (p.Ser2614Leu)
|
rs376202668
|
0.00001
|
|
NM_003482.4(KMT2D):c.812C>G (p.Pro271Arg)
|
rs755198691
|
0.00001
|
|
NM_003482.4(KMT2D):c.825G>A (p.Val275=)
|
rs200767468
|
0.00001
|
|
NM_003482.4(KMT2D):c.9491G>A (p.Arg3164Gln)
|
rs587783730
|
0.00001
|
|
NM_003491.4(NAA10):c.616G>A (p.Gly206Ser)
|
rs782529153
|
0.00001
|
|
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)
|
rs200075782
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1119A>C (p.Gly373=)
|
rs1175607172
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)
|
rs587784330
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe)
|
rs587784331
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)
|
rs587784332
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1573G>A (p.Ala525Thr)
|
rs587784334
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)
|
rs535486098
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys)
|
rs587784337
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile)
|
rs587784338
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)
|
rs587784339
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1993A>G (p.Met665Val)
|
rs1163553928
|
0.00001
|
|
NM_003560.4(PLA2G6):c.2066T>G (p.Ile689Ser)
|
rs587784342
|
0.00001
|
|
NM_003560.4(PLA2G6):c.2071G>A (p.Val691Ile)
|
rs587784345
|
0.00001
|
|
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)
|
rs587784347
|
0.00001
|
|
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)
|
rs587784350
|
0.00001
|
|
NM_003560.4(PLA2G6):c.2364C>T (p.Tyr788=)
|
rs748821599
|
0.00001
|
|
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln)
|
rs372291638
|
0.00001
|
|
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)
|
rs587784363
|
0.00001
|
|
NM_003597.5(KLF11):c.22G>C (p.Gly8Arg)
|
rs1553312823
|
0.00001
|
|
NM_003597.5(KLF11):c.24C>G (p.Gly8=)
|
rs1281918306
|
0.00001
|
|
NM_003597.5(KLF11):c.467G>T (p.Gly156Val)
|
rs587780378
|
0.00001
|
|
NM_003597.5(KLF11):c.871C>T (p.Pro291Ser)
|
rs746088073
|
0.00001
|
|
NM_003611.3(OFD1):c.198G>A (p.Gly66=)
|
rs776103115
|
0.00001
|
|
NM_003611.3(OFD1):c.2140G>A (p.Val714Met)
|
rs797045845
|
0.00001
|
|
NM_003611.3(OFD1):c.2505A>G (p.Pro835=)
|
rs759468353
|
0.00001
|
|
NM_003619.4(PRSS12):c.2146C>T (p.Arg716Trp)
|
rs764303768
|
0.00001
|
|
NM_003619.4(PRSS12):c.2147G>A (p.Arg716Gln)
|
rs985299480
|
0.00001
|
|
NM_003619.4(PRSS12):c.2324G>A (p.Arg775Gln)
|
rs200836722
|
0.00001
|
|
NM_003619.4(PRSS12):c.907A>G (p.Thr303Ala)
|
rs797045903
|
0.00001
|
|
NM_003619.4(PRSS12):c.977T>C (p.Ile326Thr)
|
rs767574605
|
0.00001
|
|
NM_003619.4(PRSS12):c.997G>A (p.Ala333Thr)
|
rs749028385
|
0.00001
|
|
NM_003907.3(EIF2B5):c.820C>T (p.Arg274Ter)
|
rs1334515681
|
0.00001
|
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
|
NM_004056.6(CA8):c.100+8G>A
|
rs1403081698
|
0.00001
|
|
NM_004056.6(CA8):c.513+7G>A
|
rs756768339
|
0.00001
|
|
NM_004153.4(ORC1):c.2347G>A (p.Ala783Thr)
|
rs779410890
|
0.00001
|
|
NM_004153.4(ORC1):c.325G>A (p.Ala109Thr)
|
rs780169538
|
0.00001
|
|
NM_004153.4(ORC1):c.387C>T (p.Ile129=)
|
rs886046400
|
0.00001
|
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
|
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn)
|
rs780654623
|
0.00001
|
|
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu)
|
rs1237513803
|
0.00001
|
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
|
NM_004170.6(SLC1A1):c.269T>C (p.Ile90Thr)
|
rs797045967
|
0.00001
|
|
NM_004187.5(KDM5C):c.2987A>G (p.Lys996Arg)
|
rs587780371
|
0.00001
|
|
NM_004187.5(KDM5C):c.3551C>T (p.Thr1184Ile)
|
rs782523306
|
0.00001
|
|
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys)
|
rs1245355138
|
0.00001
|
|
NM_004247.4(EFTUD2):c.1965G>A (p.Val655=)
|
rs772825325
|
0.00001
|
|
NM_004260.4(RECQL4):c.2464-8C>T
|
rs373671393
|
0.00001
|
|
NM_004260.4(RECQL4):c.604C>T (p.Leu202=)
|
rs61754062
|
0.00001
|
|
NM_004268.5(MED17):c.330T>C (p.Cys110=)
|
rs1012490915
|
0.00001
|
|
NM_004268.5(MED17):c.390C>G (p.Val130=)
|
rs769907044
|
0.00001
|
|
NM_004278.4(PIGL):c.30G>T (p.Ala10=)
|
rs147669920
|
0.00001
|
|
NM_004278.4(PIGL):c.480G>A (p.Leu160=)
|
rs114697377
|
0.00001
|
|
NM_004278.4(PIGL):c.534T>C (p.Ser178=)
|
rs114145762
|
0.00001
|
|
NM_004278.4(PIGL):c.535G>A (p.Val179Met)
|
rs116591352
|
0.00001
|
|
NM_004278.4(PIGL):c.540C>T (p.Leu180=)
|
rs115695383
|
0.00001
|
|
NM_004304.5(ALK):c.522C>A (p.Phe174Leu)
|
rs587778020
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1362A>G (p.Gln454=)
|
rs764090248
|
0.00001
|
|
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)
|
rs557241012
|
0.00001
|
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
|
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu)
|
rs377416092
|
0.00001
|
|
NM_004360.5(CDH1):c.2322G>A (p.Arg774=)
|
rs150734856
|
0.00001
|
|
NM_004360.5(CDH1):c.582C>T (p.Gly194=)
|
rs786202924
|
0.00001
|
|
NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser)
|
rs1415169403
|
0.00001
|
|
NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu)
|
rs917977456
|
0.00001
|
|
NM_004364.5(CEBPA):c.532C>G (p.Leu178Val)
|
rs1325138029
|
0.00001
|
|
NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser)
|
rs1347174767
|
0.00001
|
|
NM_004364.5(CEBPA):c.776C>T (p.Ala259Val)
|
rs746895795
|
0.00001
|
|
NM_004369.4(COL6A3):c.6211-9del
|
rs1280994015
|
0.00001
|
|
NM_004380.3(CREBBP):c.1331-12T>C
|
rs779542354
|
0.00001
|
|
NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val)
|
rs1186493453
|
0.00001
|
|
NM_004380.3(CREBBP):c.501C>T (p.Ala167=)
|
rs376613398
|
0.00001
|
|
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=)
|
rs773624477
|
0.00001
|
|
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)
|
rs587783512
|
0.00001
|
|
NM_004380.3(CREBBP):c.7222A>G (p.Met2408Val)
|
rs372005280
|
0.00001
|
|
NM_004380.3(CREBBP):c.825A>C (p.Pro275=)
|
rs370509157
|
0.00001
|
|
NM_004426.3(PHC1):c.101G>A (p.Arg34Gln)
|
rs377364177
|
0.00001
|
|
NM_004493.3(HSD17B10):c.600G>C (p.Leu200=)
|
rs1255652783
|
0.00001
|
|
NM_004519.4(KCNQ3):c.2492G>A (p.Arg831Gln)
|
rs149004528
|
0.00001
|
|
NM_004523.4(KIF11):c.1075A>G (p.Ile359Val)
|
rs1457816296
|
0.00001
|
|
NM_004523.4(KIF11):c.1677G>A (p.Met559Ile)
|
rs750869480
|
0.00001
|
|
NM_004523.4(KIF11):c.2562T>C (p.Cys854=)
|
rs963806889
|
0.00001
|
|
NM_004523.4(KIF11):c.690A>G (p.Ala230=)
|
rs759542620
|
0.00001
|
|
NM_004525.3(LRP2):c.2738T>C (p.Met913Thr)
|
rs587780384
|
0.00001
|
|
NM_004525.3(LRP2):c.4855C>A (p.Leu1619Ile)
|
rs766931921
|
0.00001
|
|
NM_004525.3(LRP2):c.6442C>T (p.Arg2148Trp)
|
rs774074912
|
0.00001
|
|
NM_004525.3(LRP2):c.7742C>T (p.Thr2581Met)
|
rs372305097
|
0.00001
|
|
NM_004553.6(NDUFS6):c.4G>A (p.Ala2Thr)
|
rs797045734
|
0.00001
|
|
NM_004560.4(ROR2):c.1687G>A (p.Glu563Lys)
|
rs186571882
|
0.00001
|
|
NM_004560.4(ROR2):c.1970G>A (p.Arg657His)
|
rs529829552
|
0.00001
|
|
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys)
|
rs767372181
|
0.00001
|
|
NM_004615.4(TSPAN7):c.270+7A>G
|
rs774995738
|
0.00001
|
|
NM_004615.4(TSPAN7):c.416G>A (p.Arg139Gln)
|
rs201047637
|
0.00001
|
|
NM_004615.4(TSPAN7):c.78C>T (p.Phe26=)
|
rs1200174387
|
0.00001
|
|
NM_004629.2(FANCG):c.1222G>A (p.Gly408Ser)
|
rs371171892
|
0.00001
|
|
NM_004629.2(FANCG):c.1354G>A (p.Val452Ile)
|
rs756069860
|
0.00001
|
|
NM_004629.2(FANCG):c.1652A>C (p.Tyr551Ser)
|
rs1447816480
|
0.00001
|
|
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile)
|
rs61757386
|
0.00001
|
|
NM_004655.4(AXIN2):c.405C>T (p.Tyr135=)
|
rs141608578
|
0.00001
|
|
NM_004656.4(BAP1):c.1387C>T (p.Leu463=)
|
rs145361939
|
0.00001
|
|
NM_004722.4(AP4M1):c.1190C>T (p.Ala397Val)
|
rs573143488
|
0.00001
|
|
NM_004722.4(AP4M1):c.189C>T (p.Gly63=)
|
rs367614875
|
0.00001
|
|
NM_004722.4(AP4M1):c.458G>A (p.Gly153Asp)
|
rs797045250
|
0.00001
|
|
NM_004722.4(AP4M1):c.611C>T (p.Ser204Phe)
|
rs200722903
|
0.00001
|
|
NM_004722.4(AP4M1):c.753T>C (p.Asp251=)
|
rs962896326
|
0.00001
|
|
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)
|
rs754498075
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1081C>T (p.Arg361Ter)
|
rs773976307
|
0.00001
|
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
|
NM_004826.4(ECEL1):c.951G>A (p.Glu317=)
|
rs866124729
|
0.00001
|
|
NM_004830.4(MED23):c.886C>T (p.Arg296Cys)
|
rs1339304157
|
0.00001
|
|
NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg)
|
rs771612567
|
0.00001
|
|
NM_004836.7(EIF2AK3):c.2923A>G (p.Met975Val)
|
rs759906972
|
0.00001
|
|
NM_004840.3(ARHGEF6):c.1653C>T (p.Ala551=)
|
rs369955658
|
0.00001
|
|
NM_004933.3(CDH15):c.1211C>T (p.Thr404Ile)
|
rs374288437
|
0.00001
|
|
NM_004933.3(CDH15):c.782C>A (p.Thr261Asn)
|
rs587780301
|
0.00001
|
|
NM_004933.3(CDH15):c.788A>G (p.Asp263Gly)
|
rs587780302
|
0.00001
|
|
NM_004958.4(MTOR):c.5570A>C (p.Glu1857Ala)
|
rs1643091373
|
0.00001
|
|
NM_004959.5(NR5A1):c.793C>T (p.Leu265=)
|
rs755558587
|
0.00001
|
|
NM_004977.3(KCNC3):c.1940C>T (p.Pro647Leu)
|
rs375737637
|
0.00001
|
|
NM_004984.4(KIF5A):c.1850G>A (p.Arg617His)
|
rs751295639
|
0.00001
|
|
NM_004991.4(MECOM):c.2352T>C (p.Ser784=)
|
rs370860789
|
0.00001
|
|
NM_004993.6(ATXN3):c.357C>G (p.His119Gln)
|
rs754873504
|
0.00001
|
|
NM_005045.4(RELN):c.1277G>A (p.Ser426Asn)
|
rs568950079
|
0.00001
|
|
NM_005045.4(RELN):c.2434C>G (p.His812Asp)
|
rs3025968
|
0.00001
|
|
NM_005045.4(RELN):c.2442A>G (p.Ser814=)
|
rs759128344
|
0.00001
|
|
NM_005045.4(RELN):c.408G>C (p.Leu136=)
|
rs1554427416
|
0.00001
|
|
NM_005045.4(RELN):c.4484C>T (p.Thr1495Met)
|
rs369404310
|
0.00001
|
|
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)
|
rs587780439
|
0.00001
|
|
NM_005045.4(RELN):c.5790T>C (p.Tyr1930=)
|
rs797045916
|
0.00001
|
|
NM_005045.4(RELN):c.6771G>A (p.Ser2257=)
|
rs367867782
|
0.00001
|
|
NM_005045.4(RELN):c.7093G>A (p.Val2365Met)
|
rs756299161
|
0.00001
|
|
NM_005045.4(RELN):c.7160C>T (p.Ser2387Leu)
|
rs539045917
|
0.00001
|
|
NM_005068.3(SIM1):c.1281C>T (p.Gly427=)
|
rs879050932
|
0.00001
|
|
NM_005097.4(LGI1):c.519T>C (p.Asn173=)
|
rs587780379
|
0.00001
|
|
NM_005120.3(MED12):c.2128G>A (p.Val710Met)
|
rs797045697
|
0.00001
|
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
|
NM_005120.3(MED12):c.5418G>A (p.Pro1806=)
|
rs770957462
|
0.00001
|
|
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)
|
rs769232520
|
0.00001
|
|
NM_005186.4(CAPN1):c.843+1G>C
|
rs781683198
|
0.00001
|
|
NM_005188.4(CBL):c.1191A>G (p.Gly397=)
|
rs761630653
|
0.00001
|
|
NM_005188.4(CBL):c.2451C>T (p.Ser817=)
|
rs1214485253
|
0.00001
|
|
NM_005188.4(CBL):c.595A>G (p.Ile199Val)
|
rs397517082
|
0.00001
|
|
NM_005188.4(CBL):c.660G>A (p.Glu220=)
|
rs949933368
|
0.00001
|
|
NM_005214.5(CTLA4):c.371C>T (p.Thr124Met)
|
rs757773669
|
0.00001
|
|
NM_005219.5(DIAPH1):c.300+7T>C
|
rs760784874
|
0.00001
|
|
NM_005219.5(DIAPH1):c.933+9A>G
|
rs564693939
|
0.00001
|
|
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn)
|
rs774643449
|
0.00001
|
|
NM_005236.3(ERCC4):c.2744A>G (p.Lys915Arg)
|
rs1184352382
|
0.00001
|
|
NM_005236.3(ERCC4):c.718C>T (p.Leu240=)
|
rs746904084
|
0.00001
|
|
NM_005236.3(ERCC4):c.86C>T (p.Thr29Ile)
|
rs1370047760
|
0.00001
|
|
NM_005249.5(FOXG1):c.1384A>G (p.Ser462Gly)
|
rs752379833
|
0.00001
|
|
NM_005263.5(GFI1):c.1120G>A (p.Gly374Ser)
|
rs367740686
|
0.00001
|
|
NM_005263.5(GFI1):c.383C>A (p.Ala128Glu)
|
rs371451553
|
0.00001
|
|
NM_005263.5(GFI1):c.596T>C (p.Leu199Pro)
|
rs1291583681
|
0.00001
|
|
NM_005263.5(GFI1):c.864G>A (p.Met288Ile)
|
rs1433049434
|
0.00001
|
|
NM_005271.5(GLUD1):c.1176C>T (p.Asn392=)
|
rs770902442
|
0.00001
|
|
NM_005327.7(HADH):c.579A>G (p.Thr193=)
|
rs762771153
|
0.00001
|
|
NM_005333.5(HCCS):c.252+5T>G
|
rs1048782160
|
0.00001
|
|
NM_005334.3(HCFC1):c.1692A>G (p.Ala564=)
|
rs1557115878
|
0.00001
|
|
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)
|
rs374223163
|
0.00001
|
|
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)
|
rs2065298662
|
0.00001
|
|
NM_005343.4(HRAS):c.398T>A (p.Leu133His)
|
rs766801436
|
0.00001
|
|
NM_005359.6(SMAD4):c.894C>T (p.Pro298=)
|
rs781519690
|
0.00001
|
|
NM_005373.3(MPL):c.1115C>T (p.Pro372Leu)
|
rs1452302891
|
0.00001
|
|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
|
rs121913615
|
0.00001
|
|
NM_005431.2(XRCC2):c.828G>A (p.Gly276=)
|
rs1590129146
|
0.00001
|
|
NM_005432.4(XRCC3):c.220C>T (p.Arg74Trp)
|
rs1250428018
|
0.00001
|
|
NM_005432.4(XRCC3):c.463A>G (p.Met155Val)
|
rs1354877441
|
0.00001
|
|
NM_005445.4(SMC3):c.2299T>C (p.Leu767=)
|
rs139763232
|
0.00001
|
|
NM_005445.4(SMC3):c.621G>A (p.Lys207=)
|
rs1412736656
|
0.00001
|
|
NM_005546.4(ITK):c.1034C>T (p.Ala345Val)
|
rs1421908099
|
0.00001
|
|
NM_005546.4(ITK):c.1601G>A (p.Arg534His)
|
rs745561238
|
0.00001
|
|
NM_005592.4(MUSK):c.359-2dup
|
rs1185775471
|
0.00001
|
|
NM_005859.5(PURA):c.582G>T (p.Gly194=)
|
rs886603107
|
0.00001
|
|
NM_005886.3(KATNB1):c.1908G>A (p.Leu636=)
|
rs2049296345
|
0.00001
|
|
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)
|
rs370479598
|
0.00001
|
|
NM_005912.3(MC4R):c.239A>G (p.Tyr80Cys)
|
rs1368643838
|
0.00001
|
|
NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys)
|
rs748627503
|
0.00001
|
|
NM_005921.2(MAP3K1):c.2588T>C (p.Val863Ala)
|
rs563304338
|
0.00001
|
|
NM_005921.2(MAP3K1):c.3218A>G (p.Gln1073Arg)
|
rs1250432639
|
0.00001
|
|
NM_005984.5(SLC25A1):c.233A>G (p.His78Arg)
|
rs1466425888
|
0.00001
|
|
NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser)
|
rs202195756
|
0.00001
|
|
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)
|
rs145639028
|
0.00001
|
|
NM_006009.4(TUBA1A):c.190C>A (p.Arg64=)
|
rs1064794568
|
0.00001
|
|
NM_006015.6(ARID1A):c.2320C>T (p.Arg774Cys)
|
rs1466882490
|
0.00001
|
|
NM_006015.6(ARID1A):c.2512G>A (p.Gly838Arg)
|
rs753334968
|
0.00001
|
|
NM_006015.6(ARID1A):c.2818A>G (p.Met940Val)
|
rs999287309
|
0.00001
|
|
NM_006015.6(ARID1A):c.2870A>G (p.Asn957Ser)
|
rs758593161
|
0.00001
|
|
NM_006015.6(ARID1A):c.3519C>T (p.Ile1173=)
|
rs1476281104
|
0.00001
|
|
NM_006015.6(ARID1A):c.5305C>G (p.Leu1769Val)
|
rs1557619767
|
0.00001
|
|
NM_006015.6(ARID1A):c.5442A>G (p.Val1814=)
|
rs1413966888
|
0.00001
|
|
NM_006015.6(ARID1A):c.879C>T (p.Pro293=)
|
rs779556809
|
0.00001
|
|
NM_006031.6(PCNT):c.1220A>T (p.Asn407Ile)
|
rs745322520
|
0.00001
|
|
NM_006031.6(PCNT):c.1335A>G (p.Lys445=)
|
rs771882821
|
0.00001
|
|
NM_006031.6(PCNT):c.142G>C (p.Ala48Pro)
|
rs373411902
|
0.00001
|
|
NM_006031.6(PCNT):c.1457-9dup
|
rs1486232846
|
0.00001
|
|
NM_006031.6(PCNT):c.2272G>A (p.Glu758Lys)
|
rs772683917
|
0.00001
|
|
NM_006031.6(PCNT):c.2809A>C (p.Lys937Gln)
|
rs577883327
|
0.00001
|
|
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala)
|
rs762148129
|
0.00001
|
|
NM_006031.6(PCNT):c.3715C>T (p.Arg1239Cys)
|
rs777189669
|
0.00001
|
|
NM_006031.6(PCNT):c.3795G>A (p.Leu1265=)
|
rs761411121
|
0.00001
|
|
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg)
|
rs34012939
|
0.00001
|
|
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln)
|
rs587784304
|
0.00001
|
|
NM_006031.6(PCNT):c.4311G>T (p.Lys1437Asn)
|
rs765190339
|
0.00001
|
|
NM_006031.6(PCNT):c.4552C>T (p.Arg1518Cys)
|
rs763712724
|
0.00001
|
|
NM_006031.6(PCNT):c.4585-3T>C
|
rs777059690
|
0.00001
|
|
NM_006031.6(PCNT):c.4835T>C (p.Leu1612Pro)
|
rs1296500904
|
0.00001
|
|
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly)
|
rs201943167
|
0.00001
|
|
NM_006031.6(PCNT):c.5583G>A (p.Ala1861=)
|
rs770667557
|
0.00001
|
|
NM_006031.6(PCNT):c.5606C>T (p.Thr1869Met)
|
rs775982969
|
0.00001
|
|
NM_006031.6(PCNT):c.5756T>C (p.Leu1919Pro)
|
rs755667206
|
0.00001
|
|
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)
|
rs119479062
|
0.00001
|
|
NM_006031.6(PCNT):c.6100C>T (p.Leu2034=)
|
rs1346863140
|
0.00001
|
|
NM_006031.6(PCNT):c.6281C>G (p.Thr2094Ser)
|
rs1426784720
|
0.00001
|
|
NM_006031.6(PCNT):c.6349G>A (p.Gly2117Arg)
|
rs749897159
|
0.00001
|
|
NM_006031.6(PCNT):c.6447G>A (p.Ala2149=)
|
rs763122571
|
0.00001
|
|
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=)
|
rs576187743
|
0.00001
|
|
NM_006031.6(PCNT):c.7321-10C>T
|
rs587784318
|
0.00001
|
|
NM_006031.6(PCNT):c.7342G>A (p.Asp2448Asn)
|
rs748347210
|
0.00001
|
|
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=)
|
rs372531708
|
0.00001
|
|
NM_006031.6(PCNT):c.7644C>T (p.Ser2548=)
|
rs369949793
|
0.00001
|
|
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=)
|
rs757858684
|
0.00001
|
|
NM_006031.6(PCNT):c.7950C>T (p.Ala2650=)
|
rs777255057
|
0.00001
|
|
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs)
|
rs587784320
|
0.00001
|
|
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter)
|
rs587784321
|
0.00001
|
|
NM_006031.6(PCNT):c.9090C>T (p.Thr3030=)
|
rs942925965
|
0.00001
|
|
NM_006059.4(LAMC3):c.1915G>A (p.Val639Ile)
|
rs370174192
|
0.00001
|
|
NM_006059.4(LAMC3):c.818G>A (p.Cys273Tyr)
|
rs747699617
|
0.00001
|
|
NM_006060.6(IKZF1):c.582G>A (p.Thr194=)
|
rs762184015
|
0.00001
|
|
NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr)
|
rs778820674
|
0.00001
|
|
NM_006070.6(TFG):c.316C>T (p.Arg106Cys)
|
rs587777175
|
0.00001
|
|
NM_006070.6(TFG):c.317G>A (p.Arg106His)
|
rs376971794
|
0.00001
|
|
NM_006078.5(CACNG2):c.437-7C>A
|
rs797045426
|
0.00001
|
|
NM_006086.4(TUBB3):c.1023C>T (p.Phe341=)
|
rs749945164
|
0.00001
|
|
NM_006086.4(TUBB3):c.1206C>T (p.Gly402=)
|
rs757192357
|
0.00001
|
|
NM_006086.4(TUBB3):c.1331C>T (p.Ser444Leu)
|
rs587784504
|
0.00001
|
|
NM_006118.4(HAX1):c.-5C>T
|
rs1221892429
|
0.00001
|
|
NM_006118.4(HAX1):c.150G>T (p.Arg50Ser)
|
rs762584289
|
0.00001
|
|
NM_006118.4(HAX1):c.226C>T (p.His76Tyr)
|
rs1684867356
|
0.00001
|
|
NM_006118.4(HAX1):c.459C>T (p.Ser153=)
|
rs1306497969
|
0.00001
|
|
NM_006206.6(PDGFRA):c.368-4A>G
|
rs944515268
|
0.00001
|
|
NM_006231.4(POLE):c.1642G>A (p.Glu548Lys)
|
rs908638591
|
0.00001
|
|
NM_006231.4(POLE):c.2182C>T (p.Arg728Trp)
|
rs1020252487
|
0.00001
|
|
NM_006231.4(POLE):c.2982C>T (p.Leu994=)
|
rs771463033
|
0.00001
|
|
NM_006231.4(POLE):c.3108C>T (p.Asn1036=)
|
rs772522635
|
0.00001
|
|
NM_006231.4(POLE):c.399T>C (p.Thr133=)
|
rs202102690
|
0.00001
|
|
NM_006231.4(POLE):c.4445-7T>C
|
rs754001064
|
0.00001
|
|
NM_006231.4(POLE):c.4659C>T (p.Phe1553=)
|
rs767021717
|
0.00001
|
|
NM_006231.4(POLE):c.588G>T (p.Gln196His)
|
rs878854886
|
0.00001
|
|
NM_006231.4(POLE):c.6073G>A (p.Val2025Met)
|
rs995579204
|
0.00001
|
|
NM_006231.4(POLE):c.6754A>G (p.Met2252Val)
|
rs759660507
|
0.00001
|
|
NM_006231.4(POLE):c.797G>T (p.Arg266Leu)
|
rs115786159
|
0.00001
|
|
NM_006245.4(PPP2R5D):c.1079C>T (p.Pro360Leu)
|
rs780004512
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.1097G>A (p.Arg366His)
|
rs572958701
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.118+5G>A
|
rs759128744
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.931C>T (p.Leu311=)
|
rs375217506
|
0.00001
|
|
NM_006306.4(SMC1A):c.2191C>T (p.Leu731=)
|
rs782301753
|
0.00001
|
|
NM_006306.4(SMC1A):c.2788C>T (p.Leu930=)
|
rs781912370
|
0.00001
|
|
NM_006306.4(SMC1A):c.285C>G (p.Ala95=)
|
rs587784414
|
0.00001
|
|
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=)
|
rs587784417
|
0.00001
|
|
NM_006306.4(SMC1A):c.3618+10G>A
|
rs782278656
|
0.00001
|
|
NM_006306.4(SMC1A):c.480T>A (p.Arg160=)
|
rs782369322
|
0.00001
|
|
NM_006412.4(AGPAT2):c.190G>A (p.Gly64Ser)
|
rs552941425
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.1203G>A (p.Leu401=)
|
rs747567218
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.1216G>C (p.Val406Leu)
|
rs970042155
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.1529C>T (p.Ala510Val)
|
rs143277734
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.1959G>A (p.Leu653=)
|
rs200238031
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.2406G>A (p.Arg802=)
|
rs756651881
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.2412C>T (p.Ile804=)
|
rs750860901
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.3022G>A (p.Gly1008Ser)
|
rs923421906
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.3034C>T (p.Arg1012Cys)
|
rs758071330
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.3121G>A (p.Gly1041Ser)
|
rs537313958
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.3883C>T (p.Arg1295Cys)
|
rs1355687781
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.4403A>G (p.Asp1468Gly)
|
rs775564236
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.4557C>T (p.Pro1519=)
|
rs797045258
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.4749C>T (p.Ala1583=)
|
rs757878455
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.4865A>G (p.His1622Arg)
|
rs1344849152
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.5350G>C (p.Val1784Leu)
|
rs571409699
|
0.00001
|
|
NM_006494.4(ERF):c.247C>T (p.Arg83Trp)
|
rs766762597
|
0.00001
|
|
NM_006516.4(SLC2A1):c.-2C>T
|
rs587784388
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1268A>G (p.Gln423Arg)
|
rs587784392
|
0.00001
|
|
NM_006516.4(SLC2A1):c.680-10G>T
|
rs587784394
|
0.00001
|
|
NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln)
|
rs587784395
|
0.00001
|
|
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=)
|
rs775408842
|
0.00001
|
|
NM_006517.5(SLC16A2):c.890G>A (p.Arg297His)
|
rs780086745
|
0.00001
|
|
NM_006565.4(CTCF):c.*4C>T
|
rs746166629
|
0.00001
|
|
NM_006565.4(CTCF):c.1878G>A (p.Glu626=)
|
rs377527007
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.2058G>A (p.Gln686=)
|
rs952300030
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)
|
rs797045947
|
0.00001
|
|
NM_006734.4(HIVEP2):c.3205G>T (p.Val1069Leu)
|
rs534200523
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.140G>A (p.Arg47Gln)
|
rs1034171771
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln)
|
rs761691865
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.2910G>A (p.Glu970=)
|
rs1060504899
|
0.00001
|
|
NM_006790.3(MYOT):c.122T>C (p.Ile41Thr)
|
rs587780396
|
0.00001
|
|
NM_006876.3(B4GAT1):c.375C>T (p.Phe125=)
|
rs1033220208
|
0.00001
|
|
NM_006947.4(SRP72):c.370C>T (p.Arg124Cys)
|
rs780619103
|
0.00001
|
|
NM_006947.4(SRP72):c.410G>A (p.Arg137Gln)
|
rs747009982
|
0.00001
|
|
NM_006947.4(SRP72):c.722G>A (p.Arg241Gln)
|
rs143909076
|
0.00001
|
|
NM_006947.4(SRP72):c.942T>A (p.Ala314=)
|
rs920124643
|
0.00001
|
|
NM_006949.4(STXBP2):c.1385C>T (p.Pro462Leu)
|
rs573587268
|
0.00001
|
|
NM_006949.4(STXBP2):c.1501G>A (p.Asp501Asn)
|
rs776782833
|
0.00001
|
|
NM_006950.3(SYN1):c.775-4C>T
|
rs1556857768
|
0.00001
|
|
NM_006950.3(SYN1):c.816C>T (p.His272=)
|
rs763902035
|
0.00001
|
|
NM_006982.3(ALX1):c.413C>T (p.Thr138Ile)
|
rs1008969707
|
0.00001
|
|
NM_007055.4(POLR3A):c.1787C>T (p.Thr596Met)
|
rs756953635
|
0.00001
|
|
NM_007118.4(TRIO):c.5221A>G (p.Ser1741Gly)
|
rs1206287803
|
0.00001
|
|
NM_007137.5(ZNF81):c.-10C>T
|
rs782609524
|
0.00001
|
|
NM_007137.5(ZNF81):c.1283C>T (p.Thr428Ile)
|
rs782138015
|
0.00001
|
|
NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr)
|
rs149254654
|
0.00001
|
|
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly)
|
rs760449049
|
0.00001
|
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
|
NM_007194.4(CHEK2):c.225T>G (p.Pro75=)
|
rs1217608176
|
0.00001
|
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
|
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser)
|
rs369223840
|
0.00001
|
|
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala)
|
rs587780188
|
0.00001
|
|
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser)
|
rs587782196
|
0.00001
|
|
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr)
|
rs587782033
|
0.00001
|
|
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp)
|
rs587780191
|
0.00001
|
|
NM_007254.4(PNKP):c.498G>A (p.Lys166=)
|
rs141251138
|
0.00001
|
|
NM_007254.4(PNKP):c.624C>T (p.Ala208=)
|
rs571119317
|
0.00001
|
|
NM_007254.4(PNKP):c.741C>T (p.Phe247=)
|
rs767980504
|
0.00001
|
|
NM_007254.4(PNKP):c.744+8T>C
|
rs587784370
|
0.00001
|
|
NM_007254.4(PNKP):c.995C>T (p.Pro332Leu)
|
rs978778913
|
0.00001
|
|
NM_007259.5(VPS45):c.1372-9C>T
|
rs201173713
|
0.00001
|
|
NM_007259.5(VPS45):c.200A>G (p.Lys67Arg)
|
rs1348750495
|
0.00001
|
|
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu)
|
rs782739886
|
0.00001
|
|
NM_007294.4(BRCA1):c.*1336A>G
|
rs1233730333
|
0.00001
|
|
NM_007294.4(BRCA1):c.*465G>A
|
rs886052972
|
0.00001
|
|
NM_007294.4(BRCA1):c.-60C>T
|
rs1360586320
|
0.00001
|
|
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)
|
rs80356964
|
0.00001
|
|
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His)
|
rs80357344
|
0.00001
|
|
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)
|
rs397508934
|
0.00001
|
|
NM_007294.4(BRCA1):c.2215A>G (p.Lys739Glu)
|
rs56329598
|
0.00001
|
|
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)
|
rs397507199
|
0.00001
|
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
|
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile)
|
rs80357361
|
0.00001
|
|
NM_007294.4(BRCA1):c.2920T>C (p.Leu974=)
|
rs763845063
|
0.00001
|
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
|
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)
|
rs80357228
|
0.00001
|
|
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)
|
rs56336919
|
0.00001
|
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
|
NM_007294.4(BRCA1):c.3774G>A (p.Glu1258=)
|
rs431825399
|
0.00001
|
|
NM_007294.4(BRCA1):c.3785C>T (p.Ser1262Leu)
|
rs80357269
|
0.00001
|
|
NM_007294.4(BRCA1):c.420T>C (p.Ser140=)
|
rs730881448
|
0.00001
|
|
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)
|
rs80357486
|
0.00001
|
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
|
NM_007294.4(BRCA1):c.4699G>A (p.Gly1567Arg)
|
rs568753972
|
0.00001
|
|
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys)
|
rs80357002
|
0.00001
|
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
|
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=)
|
rs730881456
|
0.00001
|
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
|
NM_007294.4(BRCA1):c.5586C>T (p.His1862=)
|
rs774127304
|
0.00001
|
|
NM_007294.4(BRCA1):c.804C>T (p.Asn268=)
|
rs771076131
|
0.00001
|
|
NM_007294.4(BRCA1):c.923G>C (p.Ser308Thr)
|
rs561998108
|
0.00001
|
|
NM_007325.5(GRIA3):c.585C>T (p.Asn195=)
|
rs1019146684
|
0.00001
|
|
NM_007327.4(GRIN1):c.1437G>A (p.Val479=)
|
rs797045604
|
0.00001
|
|
NM_007327.4(GRIN1):c.2121G>A (p.Glu707=)
|
rs774389234
|
0.00001
|
|
NM_007327.4(GRIN1):c.255C>T (p.Ser85=)
|
rs797045605
|
0.00001
|
|
NM_007327.4(GRIN1):c.357G>A (p.Leu119=)
|
rs201475721
|
0.00001
|
|
NM_007347.5(AP4E1):c.1419A>G (p.Leu473=)
|
rs587780279
|
0.00001
|
|
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=)
|
rs557252541
|
0.00001
|
|
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)
|
rs752693324
|
0.00001
|
|
NM_007347.5(AP4E1):c.3266T>G (p.Leu1089Arg)
|
rs550237440
|
0.00001
|
|
NM_007347.5(AP4E1):c.648C>T (p.Asp216=)
|
rs546627510
|
0.00001
|
|
NM_007347.5(AP4E1):c.822A>G (p.Gln274=)
|
rs991693986
|
0.00001
|
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
|
NM_012156.2(EPB41L1):c.1286G>A (p.Arg429His)
|
rs761212463
|
0.00001
|
|
NM_012156.2(EPB41L1):c.1606C>T (p.Arg536Cys)
|
rs757708154
|
0.00001
|
|
NM_012156.2(EPB41L1):c.1781T>C (p.Leu594Pro)
|
rs558063607
|
0.00001
|
|
NM_012156.2(EPB41L1):c.1900G>A (p.Glu634Lys)
|
rs754539981
|
0.00001
|
|
NM_012156.2(EPB41L1):c.1965G>C (p.Leu655=)
|
rs755730929
|
0.00001
|
|
NM_012156.2(EPB41L1):c.224C>T (p.Ser75Leu)
|
rs543552366
|
0.00001
|
|
NM_012156.2(EPB41L1):c.319T>G (p.Ser107Ala)
|
rs375649709
|
0.00001
|
|
NM_012210.4(TRIM32):c.858T>C (p.Val286=)
|
rs762342489
|
0.00001
|
|
NM_012233.3(RAB3GAP1):c.1376A>G (p.Lys459Arg)
|
rs772002275
|
0.00001
|
|
NM_012233.3(RAB3GAP1):c.301A>G (p.Met101Val)
|
rs369370987
|
0.00001
|
|
NM_012233.3(RAB3GAP1):c.382G>A (p.Val128Met)
|
rs1005718589
|
0.00001
|
|
NM_012280.4(FTSJ1):c.786C>T (p.Tyr262=)
|
rs897326530
|
0.00001
|
|
NM_012301.4(MAGI2):c.2793C>T (p.Phe931=)
|
rs587780387
|
0.00001
|
|
NM_012309.5(SHANK2):c.1854-93G>A
|
rs782793049
|
0.00001
|
|
NM_012309.5(SHANK2):c.2466C>T (p.Ala822=)
|
rs1389398992
|
0.00001
|
|
NM_012309.5(SHANK2):c.2714C>T (p.Thr905Ile)
|
rs782457537
|
0.00001
|
|
NM_012309.5(SHANK2):c.5317A>G (p.Ile1773Val)
|
rs782439841
|
0.00001
|
|
NM_012309.5(SHANK2):c.5376C>T (p.Ala1792=)
|
rs529952372
|
0.00001
|
|
NM_012309.5(SHANK2):c.5475C>T (p.Leu1825=)
|
rs201242991
|
0.00001
|
|
NM_012414.4(RAB3GAP2):c.3028G>A (p.Asp1010Asn)
|
rs763047721
|
0.00001
|
|
NM_012414.4(RAB3GAP2):c.379G>A (p.Glu127Lys)
|
rs747224775
|
0.00001
|
|
NM_012414.4(RAB3GAP2):c.3818A>G (p.His1273Arg)
|
rs370057302
|
0.00001
|
|
NM_012414.4(RAB3GAP2):c.504C>T (p.Tyr168=)
|
rs778754576
|
0.00001
|
|
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=)
|
rs576411922
|
0.00001
|
|
NM_013275.6(ANKRD11):c.3418G>A (p.Ala1140Thr)
|
rs369869329
|
0.00001
|
|
NM_013275.6(ANKRD11):c.4970C>T (p.Ser1657Leu)
|
rs749114664
|
0.00001
|
|
NM_013275.6(ANKRD11):c.7750G>A (p.Ala2584Thr)
|
rs150393722
|
0.00001
|
|
NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr)
|
rs747080388
|
0.00001
|
|
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser)
|
rs150976885
|
0.00001
|
|
NM_013339.4(ALG6):c.1319A>G (p.Gln440Arg)
|
rs1475278999
|
0.00001
|
|
NM_013339.4(ALG6):c.1341C>T (p.Val447=)
|
rs777326636
|
0.00001
|
|
NM_013382.7(POMT2):c.629T>C (p.Met210Thr)
|
rs369654108
|
0.00001
|
|
NM_014008.5(CCDC22):c.1135C>T (p.Arg379Cys)
|
rs369964781
|
0.00001
|
|
NM_014008.5(CCDC22):c.972G>C (p.Gln324His)
|
rs587780297
|
0.00001
|
|
NM_014009.3(FOXP3):c.-201C>T
|
rs1281760733
|
0.00001
|
|
NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln)
|
rs1428528910
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.117T>G (p.Leu39=)
|
rs969515416
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.18C>A (p.Arg6=)
|
rs748908765
|
0.00001
|
|
NM_014159.7(SETD2):c.2002C>G (p.Pro668Ala)
|
rs1423191971
|
0.00001
|
|
NM_014159.7(SETD2):c.2431A>G (p.Asn811Asp)
|
rs1015887716
|
0.00001
|
|
NM_014159.7(SETD2):c.2997A>G (p.Val999=)
|
rs1387514420
|
0.00001
|
|
NM_014159.7(SETD2):c.916G>A (p.Gly306Ser)
|
rs956929386
|
0.00001
|
|
NM_014264.5(PLK4):c.2120C>T (p.Thr707Ile)
|
rs1445635869
|
0.00001
|
|
NM_014271.4(IL1RAPL1):c.1927A>G (p.Ile643Val)
|
rs746481663
|
0.00001
|
|
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly)
|
rs756235299
|
0.00001
|
|
NM_014321.4(ORC6):c.119C>G (p.Ala40Gly)
|
rs149575854
|
0.00001
|
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
|
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser)
|
rs757939935
|
0.00001
|
|
NM_014425.5(INVS):c.301C>T (p.Leu101Phe)
|
rs757623556
|
0.00001
|
|
NM_014444.5(TUBGCP4):c.1993G>A (p.Gly665Arg)
|
rs774090515
|
0.00001
|
|
NM_014444.5(TUBGCP4):c.660G>A (p.Glu220=)
|
rs997675956
|
0.00001
|
|
NM_014467.3(SRPX2):c.1255G>A (p.Val419Met)
|
rs797046012
|
0.00001
|
|
NM_014467.3(SRPX2):c.164T>C (p.Val55Ala)
|
rs777972842
|
0.00001
|
|
NM_014704.4(CEP104):c.49del (p.Asp17fs)
|
rs1334483830
|
0.00001
|
|
NM_014714.4(IFT140):c.3966C>T (p.Pro1322=)
|
rs181794285
|
0.00001
|
|
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)
|
rs119475041
|
0.00001
|
|
NM_014762.4(DHCR24):c.577G>C (p.Val193Leu)
|
rs754097835
|
0.00001
|
|
NM_014762.4(DHCR24):c.996G>A (p.Thr332=)
|
rs371614663
|
0.00001
|
|
NM_014780.5(CUL7):c.1120C>T (p.Arg374Trp)
|
rs748646440
|
0.00001
|
|
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser)
|
rs144154908
|
0.00001
|
|
NM_014795.4(ZEB2):c.2365T>C (p.Ser789Pro)
|
rs730881197
|
0.00001
|
|
NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)
|
rs1490526407
|
0.00001
|
|
NM_014795.4(ZEB2):c.2714C>T (p.Pro905Leu)
|
rs1255855620
|
0.00001
|
|
NM_014795.4(ZEB2):c.507C>T (p.Arg169=)
|
rs1376118669
|
0.00001
|
|
NM_014795.4(ZEB2):c.563C>T (p.Thr188Met)
|
rs780017365
|
0.00001
|
|
NM_014832.5(TBC1D4):c.145A>C (p.Arg49=)
|
rs762356413
|
0.00001
|
|
NM_014832.5(TBC1D4):c.2323C>T (p.Arg775Cys)
|
rs370075905
|
0.00001
|
|
NM_014832.5(TBC1D4):c.832C>T (p.Leu278Phe)
|
rs1555310734
|
0.00001
|
|
NM_014845.6(FIG4):c.1389-5C>T
|
rs377752443
|
0.00001
|
|
NM_014915.3(ANKRD26):c.-126T>C
|
rs1589393792
|
0.00001
|
|
NM_014915.3(ANKRD26):c.2078C>T (p.Thr693Ile)
|
rs765372329
|
0.00001
|
|
NM_014915.3(ANKRD26):c.2151G>A (p.Met717Ile)
|
rs188446159
|
0.00001
|
|
NM_014915.3(ANKRD26):c.2524A>G (p.Met842Val)
|
rs766687353
|
0.00001
|
|
NM_014915.3(ANKRD26):c.3661G>A (p.Val1221Met)
|
rs376882515
|
0.00001
|
|
NM_014915.3(ANKRD26):c.3739C>T (p.Arg1247Cys)
|
rs200775533
|
0.00001
|
|
NM_014915.3(ANKRD26):c.4121T>C (p.Leu1374Ser)
|
rs377522793
|
0.00001
|
|
NM_014915.3(ANKRD26):c.513T>C (p.Asn171=)
|
rs745670666
|
0.00001
|
|
NM_014915.3(ANKRD26):c.770C>T (p.Ser257Leu)
|
rs1423762033
|
0.00001
|
|
NM_014915.3(ANKRD26):c.83G>T (p.Gly28Val)
|
rs773171424
|
0.00001
|
|
NM_014927.5(CNKSR2):c.896G>A (p.Ser299Asn)
|
rs201553334
|
0.00001
|
|
NM_014953.5(DIS3):c.2073T>C (p.His691=)
|
rs1224755214
|
0.00001
|
|
NM_014953.5(DIS3):c.228+3G>A
|
rs1401219257
|
0.00001
|
|
NM_015046.7(SETX):c.6689T>C (p.Met2230Thr)
|
rs753109637
|
0.00001
|
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
|
NM_015080.4(NRXN2):c.1286T>C (p.Ile429Thr)
|
rs797045798
|
0.00001
|
|
NM_015080.4(NRXN2):c.1580A>G (p.Asn527Ser)
|
rs181686738
|
0.00001
|
|
NM_015080.4(NRXN2):c.1963G>A (p.Val655Met)
|
rs764854618
|
0.00001
|
|
NM_015080.4(NRXN2):c.2124C>T (p.Gly708=)
|
rs146517173
|
0.00001
|
|
NM_015080.4(NRXN2):c.2151C>T (p.Ile717=)
|
rs751918212
|
0.00001
|
|
NM_015080.4(NRXN2):c.2193G>A (p.Thr731=)
|
rs201783047
|
0.00001
|
|
NM_015080.4(NRXN2):c.2226G>A (p.Lys742=)
|
rs768605786
|
0.00001
|
|
NM_015080.4(NRXN2):c.234G>A (p.Leu78=)
|
rs748442370
|
0.00001
|
|
NM_015080.4(NRXN2):c.3403C>T (p.Pro1135Ser)
|
rs797045800
|
0.00001
|
|
NM_015080.4(NRXN2):c.4035C>T (p.Ser1345=)
|
rs188411090
|
0.00001
|
|
NM_015107.3(PHF8):c.2345G>A (p.Arg782Gln)
|
rs782358977
|
0.00001
|
|
NM_015166.4(MLC1):c.525+1G>A
|
rs769135961
|
0.00001
|
|
NM_015175.3(NBEAL2):c.3769C>T (p.Arg1257Cys)
|
rs746827784
|
0.00001
|
|
NM_015192.4(PLCB1):c.2235G>A (p.Leu745=)
|
rs587780416
|
0.00001
|
|
NM_015192.4(PLCB1):c.2405C>T (p.Thr802Ile)
|
rs377053037
|
0.00001
|
|
NM_015192.4(PLCB1):c.3348G>A (p.Ala1116=)
|
rs587780417
|
0.00001
|
|
NM_015214.3(DDHD2):c.1215C>T (p.Ile405=)
|
rs1554514590
|
0.00001
|
|
NM_015214.3(DDHD2):c.1448T>C (p.Val483Ala)
|
rs1258523026
|
0.00001
|
|
NM_015214.3(DDHD2):c.1648A>G (p.Met550Val)
|
rs187350175
|
0.00001
|
|
NM_015214.3(DDHD2):c.268G>A (p.Asp90Asn)
|
rs1346496290
|
0.00001
|
|
NM_015275.3(WASHC4):c.2176C>T (p.Arg726Trp)
|
rs1277016005
|
0.00001
|
|
NM_015275.3(WASHC4):c.2678A>G (p.Asn893Ser)
|
rs142524116
|
0.00001
|
|
NM_015294.6(TRIM37):c.2600T>C (p.Leu867Pro)
|
rs1298434776
|
0.00001
|
|
NM_015294.6(TRIM37):c.847T>C (p.Leu283=)
|
rs777601929
|
0.00001
|
|
NM_015330.6(SPECC1L):c.1239A>G (p.Glu413=)
|
rs748294687
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.686C>A (p.Ala229Glu)
|
rs199969454
|
0.00001
|
|
NM_015450.3(POT1):c.1050C>T (p.Ala350=)
|
rs1199499328
|
0.00001
|
|
NM_015450.3(POT1):c.1315G>T (p.Val439Leu)
|
rs547000637
|
0.00001
|
|
NM_015450.3(POT1):c.1369+10T>A
|
rs773549874
|
0.00001
|
|
NM_015450.3(POT1):c.1555G>A (p.Val519Ile)
|
rs776873207
|
0.00001
|
|
NM_015450.3(POT1):c.1566A>G (p.Thr522=)
|
rs746796357
|
0.00001
|
|
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)
|
rs947005337
|
0.00001
|
|
NM_015450.3(POT1):c.547-3C>A
|
rs770890978
|
0.00001
|
|
NM_015450.3(POT1):c.862C>T (p.Leu288=)
|
rs199583149
|
0.00001
|
|
NM_015450.3(POT1):c.916A>G (p.Ile306Val)
|
rs1415345156
|
0.00001
|
|
NM_015559.3(SETBP1):c.1963C>T (p.Leu655Phe)
|
rs764969329
|
0.00001
|
|
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)
|
rs267607042
|
0.00001
|
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
|
NM_015634.4(KIFBP):c.1267G>A (p.Val423Ile)
|
rs1450869089
|
0.00001
|
|
NM_015634.4(KIFBP):c.175G>A (p.Glu59Lys)
|
rs773512678
|
0.00001
|
|
NM_015662.3(IFT172):c.1609G>A (p.Val537Met)
|
rs868020223
|
0.00001
|
|
NM_015662.3(IFT172):c.649C>T (p.Arg217Trp)
|
rs773661262
|
0.00001
|
|
NM_015665.6(AAAS):c.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
|
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)
|
rs145580873
|
0.00001
|
|
NM_015922.3(NSDHL):c.565C>T (p.Pro189Ser)
|
rs782376691
|
0.00001
|
|
NM_015922.3(NSDHL):c.658A>G (p.Arg220Gly)
|
rs782454035
|
0.00001
|
|
NM_015922.3(NSDHL):c.790-5G>A
|
rs377291339
|
0.00001
|
|
NM_016038.4(SBDS):c.345G>A (p.Val115=)
|
rs758052005
|
0.00001
|
|
NM_016038.4(SBDS):c.386C>G (p.Thr129Ser)
|
rs535755807
|
0.00001
|
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
|
NM_016122.3(CEP83):c.1056G>A (p.Gln352=)
|
rs1370476857
|
0.00001
|
|
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)
|
rs201326378
|
0.00001
|
|
NM_016169.4(SUFU):c.529A>G (p.Met177Val)
|
rs758672583
|
0.00001
|
|
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg)
|
rs797045970
|
0.00001
|
|
NM_016188.5(ACTL6B):c.388C>T (p.Arg130Trp)
|
rs779321230
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1228C>T (p.Arg410Cys)
|
rs147718581
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1285C>T (p.His429Tyr)
|
rs769255216
|
0.00001
|
|
NM_016219.5(MAN1B1):c.639C>T (p.Ile213=)
|
rs368545529
|
0.00001
|
|
NM_016222.4(DDX41):c.*181C>G
|
rs867695519
|
0.00001
|
|
NM_016222.4(DDX41):c.1033G>A (p.Glu345Lys)
|
rs370129260
|
0.00001
|
|
NM_016222.4(DDX41):c.1079C>T (p.Thr360Ile)
|
rs1284223764
|
0.00001
|
|
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter)
|
rs746278774
|
0.00001
|
|
NM_016222.4(DDX41):c.1458A>G (p.Leu486=)
|
rs1481876340
|
0.00001
|
|
NM_016222.4(DDX41):c.1650G>A (p.Ala550=)
|
rs747056004
|
0.00001
|
|
NM_016222.4(DDX41):c.1665C>T (p.Ala555=)
|
rs1356103698
|
0.00001
|
|
NM_016222.4(DDX41):c.198C>A (p.Ser66Arg)
|
rs1231474960
|
0.00001
|
|
NM_016222.4(DDX41):c.511G>C (p.Val171Leu)
|
rs200005940
|
0.00001
|
|
NM_016222.4(DDX41):c.566C>T (p.Pro189Leu)
|
rs776934246
|
0.00001
|
|
NM_016222.4(DDX41):c.645-10C>T
|
rs780120166
|
0.00001
|
|
NM_016222.4(DDX41):c.877C>T (p.Arg293Cys)
|
rs763133277
|
0.00001
|
|
NM_016222.4(DDX41):c.936-7T>G
|
rs146125027
|
0.00001
|
|
NM_016222.4(DDX41):c.946_947del (p.Met316fs)
|
rs1411544367
|
0.00001
|
|
NM_016277.5(RAB23):c.218C>T (p.Ala73Val)
|
rs556931606
|
0.00001
|
|
NM_016302.4(CRBN):c.584C>T (p.Ser195Phe)
|
rs1448818496
|
0.00001
|
|
NM_016302.4(CRBN):c.7G>C (p.Gly3Arg)
|
rs757719993
|
0.00001
|
|
NM_016343.4(CENPF):c.1816A>G (p.Lys606Glu)
|
rs1553288629
|
0.00001
|
|
NM_016343.4(CENPF):c.4416C>T (p.Leu1472=)
|
rs866302236
|
0.00001
|
|
NM_016343.4(CENPF):c.533G>A (p.Arg178Gln)
|
rs760951737
|
0.00001
|
|
NM_016343.4(CENPF):c.8509G>A (p.Asp2837Asn)
|
rs138734779
|
0.00001
|
|
NM_016343.4(CENPF):c.8526G>C (p.Glu2842Asp)
|
rs1039446040
|
0.00001
|
|
NM_016373.4(WWOX):c.948C>G (p.Val316=)
|
rs201986739
|
0.00001
|
|
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser)
|
rs775913576
|
0.00001
|
|
NM_016495.6(TBC1D7):c.752T>C (p.Met251Thr)
|
rs747950516
|
0.00001
|
|
NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter)
|
rs121918405
|
0.00001
|
|
NM_016729.3(FOLR1):c.45G>T (p.Trp15Cys)
|
rs200261943
|
0.00001
|
|
NM_016955.4(SEPSECS):c.489G>A (p.Lys163=)
|
rs587780457
|
0.00001
|
|
NM_017563.5(IL17RD):c.1688A>G (p.Gln563Arg)
|
rs369527126
|
0.00001
|
|
NM_017654.4(SAMD9):c.1051G>A (p.Asp351Asn)
|
rs1007550761
|
0.00001
|
|
NM_017654.4(SAMD9):c.1064A>G (p.Asn355Ser)
|
rs759486201
|
0.00001
|
|
NM_017654.4(SAMD9):c.229A>G (p.Thr77Ala)
|
rs74650267
|
0.00001
|
|
NM_017654.4(SAMD9):c.2611G>T (p.Glu871Ter)
|
rs746591776
|
0.00001
|
|
NM_017654.4(SAMD9):c.3129T>C (p.His1043=)
|
rs1319449344
|
0.00001
|
|
NM_017654.4(SAMD9):c.3176A>G (p.His1059Arg)
|
rs377438913
|
0.00001
|
|
NM_017654.4(SAMD9):c.3192T>G (p.Asn1064Lys)
|
rs373641119
|
0.00001
|
|
NM_017654.4(SAMD9):c.3731A>G (p.Asn1244Ser)
|
rs1338996171
|
0.00001
|
|
NM_017654.4(SAMD9):c.4597C>A (p.Arg1533=)
|
rs375396225
|
0.00001
|
|
NM_017654.4(SAMD9):c.739A>G (p.Ile247Val)
|
rs1167789173
|
0.00001
|
|
NM_017654.4(SAMD9):c.761A>G (p.Asn254Ser)
|
rs536634385
|
0.00001
|
|
NM_017654.4(SAMD9):c.853C>T (p.Arg285Ter)
|
rs553862328
|
0.00001
|
|
NM_017654.4(SAMD9):c.894T>C (p.Thr298=)
|
rs777603864
|
0.00001
|
|
NM_017654.4(SAMD9):c.982T>C (p.Tyr328His)
|
rs750797668
|
0.00001
|
|
NM_017668.3(NDE1):c.792C>T (p.Val264=)
|
rs1233481028
|
0.00001
|
|
NM_017668.3(NDE1):c.909A>T (p.Arg303Ser)
|
rs538373943
|
0.00001
|
|
NM_017668.3(NDE1):c.945G>A (p.Lys315=)
|
rs372829445
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1379C>T (p.Thr460Ile)
|
rs747475649
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1388C>T (p.Pro463Leu)
|
rs369094911
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val)
|
rs529368098
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1838C>T (p.Ala613Val)
|
rs368857635
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1936A>G (p.Ile646Val)
|
rs1488460376
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1941-6C>T
|
rs773170502
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1996A>G (p.Asn666Asp)
|
rs747760233
|
0.00001
|
|
NM_017721.5(CC2D1A):c.2377C>A (p.Pro793Thr)
|
rs760711609
|
0.00001
|
|
NM_017739.4(POMGNT1):c.504G>A (p.Ala168=)
|
rs761978964
|
0.00001
|
|
NM_017739.4(POMGNT1):c.652+1G>T
|
rs386834035
|
0.00001
|
|
NM_017755.6(NSUN2):c.1932G>T (p.Glu644Asp)
|
rs372753280
|
0.00001
|
|
NM_017755.6(NSUN2):c.354G>C (p.Leu118=)
|
rs1479645177
|
0.00001
|
|
NM_017755.6(NSUN2):c.822C>T (p.Asp274=)
|
rs141802308
|
0.00001
|
|
NM_017757.3(ZNF407):c.1258A>G (p.Ile420Val)
|
rs587780522
|
0.00001
|
|
NM_017757.3(ZNF407):c.1296C>T (p.Ser432=)
|
rs372418170
|
0.00001
|
|
NM_017757.3(ZNF407):c.2903C>T (p.Ala968Val)
|
rs797046127
|
0.00001
|
|
NM_017757.3(ZNF407):c.3050A>G (p.Asn1017Ser)
|
rs1984296737
|
0.00001
|
|
NM_017757.3(ZNF407):c.3586A>G (p.Ser1196Gly)
|
rs199680209
|
0.00001
|
|
NM_017757.3(ZNF407):c.3649C>T (p.His1217Tyr)
|
rs776425129
|
0.00001
|
|
NM_017757.3(ZNF407):c.3660G>A (p.Ser1220=)
|
rs768043004
|
0.00001
|
|
NM_017757.3(ZNF407):c.5631C>T (p.Ala1877=)
|
rs778815168
|
0.00001
|
|
NM_017757.3(ZNF407):c.5701C>T (p.Arg1901Trp)
|
rs769492762
|
0.00001
|
|
NM_017757.3(ZNF407):c.6153C>T (p.Ala2051=)
|
rs373080209
|
0.00001
|
|
NM_017763.6(RNF43):c.407C>T (p.Ala136Val)
|
rs1227515515
|
0.00001
|
|
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser)
|
rs587779734
|
0.00001
|
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
|
NM_017780.4(CHD7):c.1085T>C (p.Met362Thr)
|
rs748181926
|
0.00001
|
|
NM_017780.4(CHD7):c.1512A>G (p.Gln504=)
|
rs587783430
|
0.00001
|
|
NM_017780.4(CHD7):c.2613+4C>T
|
rs779615403
|
0.00001
|
|
NM_017780.4(CHD7):c.350G>A (p.Gly117Asp)
|
rs372110761
|
0.00001
|
|
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile)
|
rs374602567
|
0.00001
|
|
NM_017831.4(RNF125):c.122T>C (p.Leu41Pro)
|
rs979916916
|
0.00001
|
|
NM_017838.4(NHP2):c.-11C>T
|
rs764513273
|
0.00001
|
|
NM_017838.4(NHP2):c.-2C>A
|
rs1200196278
|
0.00001
|
|
NM_017838.4(NHP2):c.153C>G (p.Ile51Met)
|
rs771889761
|
0.00001
|
|
NM_017838.4(NHP2):c.160+9G>A
|
rs756638436
|
0.00001
|
|
NM_017841.4(SDHAF2):c.145_147del (p.Glu49del)
|
rs749431351
|
0.00001
|
|
NM_017882.3(CLN6):c.407G>A (p.Arg136His)
|
rs769701646
|
0.00001
|
|
NM_018013.4(SOBP):c.1116C>T (p.Ile372=)
|
rs377312552
|
0.00001
|
|
NM_018013.4(SOBP):c.1118G>T (p.Gly373Val)
|
rs761861837
|
0.00001
|
|
NM_018013.4(SOBP):c.1896C>T (p.Gly632=)
|
rs797045998
|
0.00001
|
|
NM_018013.4(SOBP):c.219C>T (p.His73=)
|
rs759344534
|
0.00001
|
|
NM_018013.4(SOBP):c.2349C>T (p.Asp783=)
|
rs367899598
|
0.00001
|
|
NM_018013.4(SOBP):c.2412G>A (p.Pro804=)
|
rs797046001
|
0.00001
|
|
NM_018013.4(SOBP):c.2586A>T (p.Lys862Asn)
|
rs797046002
|
0.00001
|
|
NM_018026.4(PACS1):c.1803C>T (p.Ala601=)
|
rs371400214
|
0.00001
|
|
NM_018026.4(PACS1):c.2776+5G>A
|
rs371976817
|
0.00001
|
|
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser)
|
rs767885129
|
0.00001
|
|
NM_018036.7(ATG2B):c.4596C>T (p.Thr1532=)
|
rs765569547
|
0.00001
|
|
NM_018062.4(FANCL):c.-5G>C
|
rs753605014
|
0.00001
|
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
|
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys)
|
rs751459271
|
0.00001
|
|
NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter)
|
rs796052414
|
0.00001
|
|
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn)
|
rs1209550754
|
0.00001
|
|
NM_018136.5(ASPM):c.*78C>G
|
rs3790415
|
0.00001
|
|
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter)
|
rs748529285
|
0.00001
|
|
NM_018136.5(ASPM):c.10109C>G (p.Thr3370Arg)
|
rs587783209
|
0.00001
|
|
NM_018136.5(ASPM):c.112G>A (p.Val38Ile)
|
rs587783214
|
0.00001
|
|
NM_018136.5(ASPM):c.1174T>A (p.Ser392Thr)
|
rs765134677
|
0.00001
|
|
NM_018136.5(ASPM):c.1530_1531del (p.Glu511fs)
|
rs1404276011
|
0.00001
|
|
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu)
|
rs199813531
|
0.00001
|
|
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser)
|
rs587783224
|
0.00001
|
|
NM_018136.5(ASPM):c.2312G>A (p.Arg771His)
|
rs375059809
|
0.00001
|
|
NM_018136.5(ASPM):c.2488-1G>C
|
rs1321892596
|
0.00001
|
|
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)
|
rs774338373
|
0.00001
|
|
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu)
|
rs576139929
|
0.00001
|
|
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)
|
rs199422161
|
0.00001
|
|
NM_018136.5(ASPM):c.3825A>C (p.Thr1275=)
|
rs587783237
|
0.00001
|
|
NM_018136.5(ASPM):c.3960_3961insA (p.Val1321fs)
|
rs759632528
|
0.00001
|
|
NM_018136.5(ASPM):c.4445G>A (p.Arg1482Gln)
|
rs587783243
|
0.00001
|
|
NM_018136.5(ASPM):c.4474G>C (p.Val1492Leu)
|
rs587783244
|
0.00001
|
|
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)
|
rs751326753
|
0.00001
|
|
NM_018136.5(ASPM):c.4834A>T (p.Ile1612Phe)
|
rs1464543547
|
0.00001
|
|
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val)
|
rs772751994
|
0.00001
|
|
NM_018136.5(ASPM):c.5226C>T (p.Tyr1742=)
|
rs780801872
|
0.00001
|
|
NM_018136.5(ASPM):c.59C>T (p.Pro20Leu)
|
rs587783252
|
0.00001
|
|
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=)
|
rs587783260
|
0.00001
|
|
NM_018136.5(ASPM):c.6997G>T (p.Glu2333Ter)
|
rs1334947797
|
0.00001
|
|
NM_018136.5(ASPM):c.7062T>C (p.Tyr2354=)
|
rs587783261
|
0.00001
|
|
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter)
|
rs587783275
|
0.00001
|
|
NM_018136.5(ASPM):c.8330G>C (p.Cys2777Ser)
|
rs1445505219
|
0.00001
|
|
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs)
|
rs587783283
|
0.00001
|
|
NM_018136.5(ASPM):c.9320G>A (p.Arg3107Gln)
|
rs587783290
|
0.00001
|
|
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter)
|
rs587783292
|
0.00001
|
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
|
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)
|
rs199422195
|
0.00001
|
|
NM_018136.5(ASPM):c.9923G>A (p.Arg3308His)
|
rs201362977
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.1433T>C (p.Val478Ala)
|
rs587783382
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.4005G>A (p.Arg1335=)
|
rs760335021
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.432G>A (p.Arg144=)
|
rs1294025170
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter)
|
rs587783390
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter)
|
rs587783392
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.5413C>T (p.Leu1805Phe)
|
rs545543130
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.5641G>C (p.Ala1881Pro)
|
rs766759076
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu)
|
rs568558844
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.764C>T (p.Ser255Leu)
|
rs35199933
|
0.00001
|
|
NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter)
|
rs587780462
|
0.00001
|
|
NM_018344.6(SLC29A3):c.300+1G>A
|
rs587780463
|
0.00001
|
|
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter)
|
rs746408350
|
0.00001
|
|
NM_018451.5(CENPJ):c.1371G>A (p.Pro457=)
|
rs770254231
|
0.00001
|
|
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)
|
rs797045450
|
0.00001
|
|
NM_018451.5(CENPJ):c.3367-4A>G
|
rs587783409
|
0.00001
|
|
NM_018451.5(CENPJ):c.3448C>T (p.Gln1150Ter)
|
rs587783410
|
0.00001
|
|
NM_018451.5(CENPJ):c.444+3A>G
|
rs587783411
|
0.00001
|
|
NM_018451.5(CENPJ):c.650G>A (p.Cys217Tyr)
|
rs587783412
|
0.00001
|
|
NM_018451.5(CENPJ):c.810A>G (p.Gln270=)
|
rs572213217
|
0.00001
|
|
NM_018648.4(NOP10):c.52A>C (p.Lys18Gln)
|
rs560253884
|
0.00001
|
|
NM_018685.5(ANLN):c.1798G>C (p.Asp600His)
|
rs746177762
|
0.00001
|
|
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro)
|
rs587780311
|
0.00001
|
|
NM_018941.4(CLN8):c.562C>T (p.Leu188=)
|
rs587780318
|
0.00001
|
|
NM_018993.4(RIN2):c.2242A>G (p.Ile748Val)
|
rs371421205
|
0.00001
|
|
NM_018993.4(RIN2):c.2336G>A (p.Arg779Gln)
|
rs764072860
|
0.00001
|
|
NM_019023.5(PRMT7):c.1575+8A>T
|
rs376295845
|
0.00001
|
|
NM_019023.5(PRMT7):c.879G>A (p.Lys293=)
|
rs777409656
|
0.00001
|
|
NM_019066.5(MAGEL2):c.789T>C (p.Pro263=)
|
rs993057859
|
0.00001
|
|
NM_020066.5(FMN2):c.1931-4C>A
|
rs1349146393
|
0.00001
|
|
NM_020066.5(FMN2):c.694C>G (p.Pro232Ala)
|
rs753172887
|
0.00001
|
|
NM_020207.7(ERCC6L2):c.2101-10G>A
|
rs1327824700
|
0.00001
|
|
NM_020207.7(ERCC6L2):c.2533A>G (p.Thr845Ala)
|
rs924010627
|
0.00001
|
|
NM_020207.7(ERCC6L2):c.2987A>C (p.Lys996Thr)
|
rs1361989152
|
0.00001
|
|
NM_020207.7(ERCC6L2):c.3497A>G (p.Tyr1166Cys)
|
rs776781098
|
0.00001
|
|
NM_020207.7(ERCC6L2):c.3839A>C (p.Gln1280Pro)
|
rs554013810
|
0.00001
|
|
NM_020247.5(COQ8A):c.854-2A>G
|
rs1338137742
|
0.00001
|
|
NM_020361.5(CPA6):c.945G>T (p.Lys315Asn)
|
rs149196398
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.1511A>G (p.Tyr504Cys)
|
rs745507206
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.1529T>G (p.Leu510Arg)
|
rs777796155
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.1716C>T (p.Gly572=)
|
rs1163635070
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.2356C>T (p.Arg786Ter)
|
rs772174079
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.4587C>T (p.Gly1529=)
|
rs554921650
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.4876G>A (p.Gly1626Ser)
|
rs201575861
|
0.00001
|
|
NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter)
|
rs755196112
|
0.00001
|
|
NM_020639.3(RIPK4):c.265C>T (p.Arg89Cys)
|
rs201602859
|
0.00001
|
|
NM_020699.4(GATAD2B):c.1459C>T (p.Pro487Ser)
|
rs1230061825
|
0.00001
|
|
NM_020699.4(GATAD2B):c.1748G>A (p.Arg583Gln)
|
rs377116665
|
0.00001
|
|
NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val)
|
rs372276373
|
0.00001
|
|
NM_020699.4(GATAD2B):c.900G>A (p.Pro300=)
|
rs376882053
|
0.00001
|
|
NM_020717.5(SHROOM4):c.245G>A (p.Arg82Gln)
|
rs797045961
|
0.00001
|
|
NM_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter)
|
rs1428157543
|
0.00001
|
|
NM_020822.3(KCNT1):c.1257C>G (p.Val419=)
|
rs547714141
|
0.00001
|
|
NM_020831.6(MRTFA):c.2286C>T (p.Ser762=)
|
rs777904504
|
0.00001
|
|
NM_020921.4(NIN):c.2482del (p.Arg828fs)
|
rs747680111
|
0.00001
|
|
NM_020921.4(NIN):c.2494G>A (p.Ala832Thr)
|
rs370154746
|
0.00001
|
|
NM_020921.4(NIN):c.2654C>G (p.Thr885Arg)
|
rs776499143
|
0.00001
|
|
NM_020921.4(NIN):c.3196G>A (p.Val1066Ile)
|
rs143976273
|
0.00001
|
|
NM_020921.4(NIN):c.4240G>A (p.Gly1414Arg)
|
rs951191260
|
0.00001
|
|
NM_020937.4(FANCM):c.117G>A (p.Lys39=)
|
rs765275634
|
0.00001
|
|
NM_020937.4(FANCM):c.2244A>G (p.Gln748=)
|
rs751605791
|
0.00001
|
|
NM_020937.4(FANCM):c.366C>G (p.Ala122=)
|
rs770311755
|
0.00001
|
|
NM_020937.4(FANCM):c.5681T>C (p.Ile1894Thr)
|
rs1308170151
|
0.00001
|
|
NM_020937.4(FANCM):c.5717-4T>A
|
rs781258517
|
0.00001
|
|
NM_020937.4(FANCM):c.6129A>T (p.Arg2043Ser)
|
rs772632630
|
0.00001
|
|
NM_020975.6(RET):c.139G>A (p.Gly47Ser)
|
rs529018971
|
0.00001
|
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
|
NM_020975.6(RET):c.2915G>A (p.Arg972Lys)
|
rs1384605415
|
0.00001
|
|
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)
|
rs532862288
|
0.00001
|
|
NM_020987.5(ANK3):c.12245-4G>A
|
rs527940388
|
0.00001
|
|
NM_020987.5(ANK3):c.12275T>C (p.Ile4092Thr)
|
rs1302027031
|
0.00001
|
|
NM_020987.5(ANK3):c.2516C>T (p.Thr839Met)
|
rs202156367
|
0.00001
|
|
NM_020987.5(ANK3):c.297T>C (p.Asn99=)
|
rs149618682
|
0.00001
|
|
NM_020987.5(ANK3):c.3083A>G (p.His1028Arg)
|
rs772604047
|
0.00001
|
|
NM_020987.5(ANK3):c.3471C>T (p.Thr1157=)
|
rs768718440
|
0.00001
|
|
NM_020987.5(ANK3):c.3821C>A (p.Ser1274Tyr)
|
rs371069694
|
0.00001
|
|
NM_020987.5(ANK3):c.5150A>G (p.Asn1717Ser)
|
rs756186424
|
0.00001
|
|
NM_020987.5(ANK3):c.5667G>C (p.Leu1889Phe)
|
rs797045235
|
0.00001
|
|
NM_020987.5(ANK3):c.7517T>C (p.Ile2506Thr)
|
rs769822914
|
0.00001
|
|
NM_020987.5(ANK3):c.8017C>G (p.Pro2673Ala)
|
rs1222457954
|
0.00001
|
|
NM_020987.5(ANK3):c.8746A>G (p.Ile2916Val)
|
rs375389082
|
0.00001
|
|
NM_020987.5(ANK3):c.9740A>G (p.Asn3247Ser)
|
rs956407567
|
0.00001
|
|
NM_020987.5(ANK3):c.9785C>T (p.Ala3262Val)
|
rs752186598
|
0.00001
|
|
NM_020988.3(GNAO1):c.708C>T (p.His236=)
|
rs765429450
|
0.00001
|
|
NM_021120.4(DLG3):c.1138T>C (p.Phe380Leu)
|
rs749973560
|
0.00001
|
|
NM_021120.4(DLG3):c.2076C>T (p.Ile692=)
|
rs535820581
|
0.00001
|
|
NM_021120.4(DLG3):c.94G>A (p.Asp32Asn)
|
rs1373830243
|
0.00001
|
|
NM_021252.5(RAB18):c.406G>A (p.Gly136Ser)
|
rs757213835
|
0.00001
|
|
NM_021784.5(FOXA2):c.399C>T (p.Tyr133=)
|
rs151323690
|
0.00001
|
|
NM_021871.4(FGA):c.767A>C (p.Gln256Pro)
|
rs1348588295
|
0.00001
|
|
NM_021922.3(FANCE):c.373C>G (p.Leu125Val)
|
rs772594350
|
0.00001
|
|
NM_021922.3(FANCE):c.396G>T (p.Trp132Cys)
|
rs866005940
|
0.00001
|
|
NM_021956.5(GRIK2):c.1091A>G (p.Lys364Arg)
|
rs1307807230
|
0.00001
|
|
NM_021956.5(GRIK2):c.2072T>C (p.Met691Thr)
|
rs753218875
|
0.00001
|
|
NM_021956.5(GRIK2):c.472C>T (p.Arg158Cys)
|
rs371606570
|
0.00001
|
|
NM_021956.5(GRIK2):c.963T>C (p.Ala321=)
|
rs777602036
|
0.00001
|
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
|
NM_022081.6(HPS4):c.934A>G (p.Thr312Ala)
|
rs1370722861
|
0.00001
|
|
NM_022095.4(ZNF335):c.1405A>G (p.Ile469Val)
|
rs142224018
|
0.00001
|
|
NM_022095.4(ZNF335):c.1866G>A (p.Lys622=)
|
rs749165988
|
0.00001
|
|
NM_022095.4(ZNF335):c.3720A>G (p.Glu1240=)
|
rs763575505
|
0.00001
|
|
NM_022095.4(ZNF335):c.3858C>T (p.Val1286=)
|
rs777764325
|
0.00001
|
|
NM_022095.4(ZNF335):c.627A>G (p.Ala209=)
|
rs569696408
|
0.00001
|
|
NM_022455.5(NSD1):c.108A>G (p.Gln36=)
|
rs549091873
|
0.00001
|
|
NM_022455.5(NSD1):c.1237-10T>C
|
rs587784070
|
0.00001
|
|
NM_022455.5(NSD1):c.1471G>A (p.Glu491Lys)
|
rs587784074
|
0.00001
|
|
NM_022455.5(NSD1):c.2242A>G (p.Asn748Asp)
|
rs587784083
|
0.00001
|
|
NM_022455.5(NSD1):c.2925C>T (p.Ser975=)
|
rs587784090
|
0.00001
|
|
NM_022455.5(NSD1):c.2944G>C (p.Gly982Arg)
|
rs587784091
|
0.00001
|
|
NM_022455.5(NSD1):c.352C>G (p.Pro118Ala)
|
rs587784102
|
0.00001
|
|
NM_022455.5(NSD1):c.4282G>A (p.Asp1428Asn)
|
rs757591029
|
0.00001
|
|
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr)
|
rs530920626
|
0.00001
|
|
NM_022455.5(NSD1):c.4966+15T>C
|
rs587784130
|
0.00001
|
|
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys)
|
rs587784154
|
0.00001
|
|
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)
|
rs587784175
|
0.00001
|
|
NM_022455.5(NSD1):c.6480G>A (p.Pro2160=)
|
rs587784203
|
0.00001
|
|
NM_022455.5(NSD1):c.7391G>A (p.Arg2464His)
|
rs587784216
|
0.00001
|
|
NM_022552.5(DNMT3A):c.1135C>T (p.Arg379Cys)
|
rs754459010
|
0.00001
|
|
NM_022725.4(FANCF):c.332T>C (p.Leu111Pro)
|
rs373385251
|
0.00001
|
|
NM_022725.4(FANCF):c.807G>A (p.Ala269=)
|
rs754312601
|
0.00001
|
|
NM_022725.4(FANCF):c.936A>T (p.Gln312His)
|
rs371631248
|
0.00001
|
|
NM_023110.3(FGFR1):c.1399G>A (p.Glu467Lys)
|
rs923019674
|
0.00001
|
|
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val)
|
rs767570224
|
0.00001
|
|
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
|
NM_024301.5(FKRP):c.699G>A (p.Val233=)
|
rs764527541
|
0.00001
|
|
NM_024306.5(FA2H):c.806G>A (p.Arg269His)
|
rs1429546236
|
0.00001
|
|
NM_024408.4(NOTCH2):c.4145C>A (p.Pro1382His)
|
rs1418033447
|
0.00001
|
|
NM_024529.5(CDC73):c.842G>A (p.Arg281His)
|
rs762716583
|
0.00001
|
|
NM_024592.5(SRD5A3):c.225T>C (p.Tyr75=)
|
rs900970596
|
0.00001
|
|
NM_024592.5(SRD5A3):c.480C>T (p.Val160=)
|
rs797046008
|
0.00001
|
|
NM_024596.5(MCPH1):c.1936-10A>G
|
rs587783736
|
0.00001
|
|
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val)
|
rs587783743
|
0.00001
|
|
NM_024649.5(BBS1):c.127C>G (p.Leu43Val)
|
rs1855936862
|
0.00001
|
|
NM_024649.5(BBS1):c.1626A>G (p.Pro542=)
|
rs780444865
|
0.00001
|
|
NM_024649.5(BBS1):c.1640C>A (p.Pro547His)
|
rs774636593
|
0.00001
|
|
NM_024649.5(BBS1):c.803G>A (p.Arg268His)
|
rs375949076
|
0.00001
|
|
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro)
|
rs1358484245
|
0.00001
|
|
NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln)
|
rs749461008
|
0.00001
|
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
|
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg)
|
rs760045493
|
0.00001
|
|
NM_024675.4(PALB2):c.2508C>G (p.Val836=)
|
rs786203603
|
0.00001
|
|
NM_024675.4(PALB2):c.2514+3dup
|
rs587781602
|
0.00001
|
|
NM_024675.4(PALB2):c.2955T>G (p.Ser985=)
|
rs765643734
|
0.00001
|
|
NM_024675.4(PALB2):c.3202-9C>T
|
rs757444247
|
0.00001
|
|
NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)
|
rs149194681
|
0.00001
|
|
NM_024675.4(PALB2):c.563C>G (p.Ala188Gly)
|
rs587781975
|
0.00001
|
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
|
NM_024685.4(BBS10):c.389C>T (p.Ser130Phe)
|
rs766572403
|
0.00001
|
|
NM_024685.4(BBS10):c.85G>T (p.Val29Leu)
|
rs752267054
|
0.00001
|
|
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met)
|
rs749976725
|
0.00001
|
|
NM_024757.5(EHMT1):c.358A>G (p.Ile120Val)
|
rs369253537
|
0.00001
|
|
NM_024757.5(EHMT1):c.672T>C (p.Val224=)
|
rs779765731
|
0.00001
|
|
NM_024824.5(ZC3H14):c.1230C>T (p.Pro410=)
|
rs797046114
|
0.00001
|
|
NM_024824.5(ZC3H14):c.264C>T (p.Thr88=)
|
rs765219941
|
0.00001
|
|
NM_024824.5(ZC3H14):c.842C>T (p.Ser281Leu)
|
rs202134673
|
0.00001
|
|
NM_024824.5(ZC3H14):c.971G>A (p.Arg324Gln)
|
rs1555398661
|
0.00001
|
|
NM_024876.4(COQ8B):c.1297-5C>A
|
rs1261602445
|
0.00001
|
|
NM_024884.3(L2HGDH):c.1004G>A (p.Arg335Gln)
|
rs779733566
|
0.00001
|
|
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter)
|
rs1361547443
|
0.00001
|
|
NM_024989.4(PGAP1):c.927+1G>A
|
rs750079325
|
0.00001
|
|
NM_025000.4(DCAF17):c.1183-6T>C
|
rs587780328
|
0.00001
|
|
NM_025009.5(CEP135):c.1189C>T (p.His397Tyr)
|
rs781746934
|
0.00001
|
|
NM_025009.5(CEP135):c.3156C>T (p.His1052=)
|
rs376309359
|
0.00001
|
|
NM_025009.5(CEP135):c.3247C>T (p.Arg1083Ter)
|
rs1730945388
|
0.00001
|
|
NM_025074.7(FRAS1):c.1687C>G (p.Gln563Glu)
|
rs1254192090
|
0.00001
|
|
NM_025074.7(FRAS1):c.2046G>A (p.Val682=)
|
rs764188507
|
0.00001
|
|
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)
|
rs755750961
|
0.00001
|
|
NM_025074.7(FRAS1):c.4098C>T (p.Ile1366=)
|
rs1027609786
|
0.00001
|
|
NM_025099.6(CTC1):c.105T>C (p.Asn35=)
|
rs775601506
|
0.00001
|
|
NM_025099.6(CTC1):c.1467C>T (p.His489=)
|
rs755429023
|
0.00001
|
|
NM_025099.6(CTC1):c.1673A>G (p.Glu558Gly)
|
rs371121503
|
0.00001
|
|
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp)
|
rs759039504
|
0.00001
|
|
NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln)
|
rs753665719
|
0.00001
|
|
NM_025099.6(CTC1):c.2452C>T (p.Arg818Ter)
|
rs760884555
|
0.00001
|
|
NM_025099.6(CTC1):c.2972A>G (p.Tyr991Cys)
|
rs1471047572
|
0.00001
|
|
NM_025099.6(CTC1):c.485G>A (p.Arg162His)
|
rs199966003
|
0.00001
|
|
NM_025099.6(CTC1):c.79C>G (p.Leu27Val)
|
rs369069450
|
0.00001
|
|
NM_025103.4(IFT74):c.1427A>G (p.Gln476Arg)
|
rs769077886
|
0.00001
|
|
NM_025114.4(CEP290):c.1517G>A (p.Arg506His)
|
rs866571949
|
0.00001
|
|
NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys)
|
rs753350609
|
0.00001
|
|
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr)
|
rs2034573032
|
0.00001
|
|
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr)
|
rs535765861
|
0.00001
|
|
NM_025114.4(CEP290):c.726T>A (p.Asn242Lys)
|
rs949161264
|
0.00001
|
|
NM_025114.4(CEP290):c.990G>A (p.Met330Ile)
|
rs1388365600
|
0.00001
|
|
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln)
|
rs747065633
|
0.00001
|
|
NM_025243.4(SLC19A3):c.544G>A (p.Val182Met)
|
rs758707665
|
0.00001
|
|
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg)
|
rs797046051
|
0.00001
|
|
NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser)
|
rs778603443
|
0.00001
|
|
NM_025265.4(TSEN2):c.784G>A (p.Glu262Lys)
|
rs770220924
|
0.00001
|
|
NM_030632.3(ASXL3):c.1422T>A (p.Pro474=)
|
rs1555742146
|
0.00001
|
|
NM_030632.3(ASXL3):c.337C>T (p.His113Tyr)
|
rs1440478761
|
0.00001
|
|
NM_030632.3(ASXL3):c.6308A>G (p.Tyr2103Cys)
|
rs201331186
|
0.00001
|
|
NM_030665.4(RAI1):c.1110T>G (p.Phe370Leu)
|
rs754037858
|
0.00001
|
|
NM_030665.4(RAI1):c.12T>C (p.Phe4=)
|
rs755209169
|
0.00001
|
|
NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys)
|
rs527757515
|
0.00001
|
|
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp)
|
rs549244691
|
0.00001
|
|
NM_030665.4(RAI1):c.5652C>T (p.Ser1884=)
|
rs567884332
|
0.00001
|
|
NM_030787.4(CFHR5):c.826G>A (p.Glu276Lys)
|
rs199531514
|
0.00001
|
|
NM_030928.4(CDT1):c.1632G>C (p.Glu544Asp)
|
rs556429460
|
0.00001
|
|
NM_030928.4(CDT1):c.535C>A (p.Pro179Thr)
|
rs749112424
|
0.00001
|
|
NM_030928.4(CDT1):c.742C>T (p.Arg248Cys)
|
rs149192605
|
0.00001
|
|
NM_030928.4(CDT1):c.782G>A (p.Gly261Asp)
|
rs755194747
|
0.00001
|
|
NM_030928.4(CDT1):c.965T>C (p.Val322Ala)
|
rs797045446
|
0.00001
|
|
NM_030954.4(RNF170):c.640A>G (p.Ile214Val)
|
rs587780441
|
0.00001
|
|
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg)
|
rs770153492
|
0.00001
|
|
NM_030962.4(SBF2):c.1893C>T (p.Ala631=)
|
rs760154688
|
0.00001
|
|
NM_030962.4(SBF2):c.2447T>C (p.Val816Ala)
|
rs982821887
|
0.00001
|
|
NM_030962.4(SBF2):c.2934+7A>C
|
rs1475155503
|
0.00001
|
|
NM_030962.4(SBF2):c.3110+5G>T
|
rs898995159
|
0.00001
|
|
NM_030962.4(SBF2):c.3794-5T>C
|
rs750041384
|
0.00001
|
|
NM_030962.4(SBF2):c.4266C>T (p.Ser1422=)
|
rs763445946
|
0.00001
|
|
NM_030962.4(SBF2):c.504A>T (p.Gly168=)
|
rs781537575
|
0.00001
|
|
NM_030962.4(SBF2):c.56-5A>C
|
rs1247694809
|
0.00001
|
|
NM_030973.4(MED25):c.275A>T (p.Tyr92Phe)
|
rs549136898
|
0.00001
|
|
NM_031407.7(HUWE1):c.10470A>G (p.Thr3490=)
|
rs1192210543
|
0.00001
|
|
NM_031407.7(HUWE1):c.11625G>A (p.Ala3875=)
|
rs782743763
|
0.00001
|
|
NM_031407.7(HUWE1):c.1363A>G (p.Ile455Val)
|
rs1557019212
|
0.00001
|
|
NM_031407.7(HUWE1):c.4520C>A (p.Thr1507Lys)
|
rs1382783056
|
0.00001
|
|
NM_031407.7(HUWE1):c.8682A>G (p.Pro2894=)
|
rs1556930356
|
0.00001
|
|
NM_031448.6(C19orf12):c.161-2del
|
rs1352744778
|
0.00001
|
|
NM_031466.8(TRAPPC9):c.-203G>C
|
rs797046049
|
0.00001
|
|
NM_031466.8(TRAPPC9):c.-58G>A
|
rs886062730
|
0.00001
|
|
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly)
|
rs752052351
|
0.00001
|
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
|
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)
|
rs587782356
|
0.00001
|
|
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)
|
rs374335608
|
0.00001
|
|
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)
|
rs761639530
|
0.00001
|
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
|
NM_032043.3(BRIP1):c.3075A>T (p.Ser1025=)
|
rs1060504319
|
0.00001
|
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
|
NM_032043.3(BRIP1):c.627+5G>A
|
rs745727200
|
0.00001
|
|
NM_032119.4(ADGRV1):c.12032G>T (p.Gly4011Val)
|
rs369044000
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2021A>G (p.Tyr674Cys)
|
rs761220696
|
0.00001
|
|
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)
|
rs104893945
|
0.00001
|
|
NM_032383.5(HPS3):c.789A>G (p.Glu263=)
|
rs927155737
|
0.00001
|
|
NM_032436.4(CHAMP1):c.106A>T (p.Ile36Phe)
|
rs781988354
|
0.00001
|
|
NM_032444.4(SLX4):c.1026G>A (p.Pro342=)
|
rs755211335
|
0.00001
|
|
NM_032444.4(SLX4):c.1034C>A (p.Thr345Asn)
|
rs751770341
|
0.00001
|
|
NM_032444.4(SLX4):c.1493C>T (p.Ser498Phe)
|
rs1326014010
|
0.00001
|
|
NM_032444.4(SLX4):c.1603G>A (p.Ala535Thr)
|
rs776394340
|
0.00001
|
|
NM_032444.4(SLX4):c.1845C>T (p.Leu615=)
|
rs1056084
|
0.00001
|
|
NM_032444.4(SLX4):c.2118C>T (p.His706=)
|
rs371401752
|
0.00001
|
|
NM_032444.4(SLX4):c.2421T>C (p.Asn807=)
|
rs760214045
|
0.00001
|
|
NM_032444.4(SLX4):c.2784C>T (p.Leu928=)
|
rs372754390
|
0.00001
|
|
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg)
|
rs368657696
|
0.00001
|
|
NM_032444.4(SLX4):c.3370A>G (p.Ile1124Val)
|
rs766081510
|
0.00001
|
|
NM_032444.4(SLX4):c.4383C>T (p.Ala1461=)
|
rs556719111
|
0.00001
|
|
NM_032444.4(SLX4):c.4897A>G (p.Thr1633Ala)
|
rs771698300
|
0.00001
|
|
NM_032531.4(KIRREL3):c.1195C>T (p.Arg399Trp)
|
rs1242650611
|
0.00001
|
|
NM_032531.4(KIRREL3):c.1354-6G>C
|
rs587780376
|
0.00001
|
|
NM_032531.4(KIRREL3):c.1991C>T (p.Ala664Val)
|
rs200640353
|
0.00001
|
|
NM_032531.4(KIRREL3):c.327G>A (p.Glu109=)
|
rs547399629
|
0.00001
|
|
NM_032638.5(GATA2):c.-179G>C
|
rs890513278
|
0.00001
|
|
NM_032638.5(GATA2):c.-99A>G
|
rs991141166
|
0.00001
|
|
NM_032638.5(GATA2):c.1017+512C>T
|
rs890419135
|
0.00001
|
|
NM_032638.5(GATA2):c.1020G>A (p.Ser340=)
|
rs370166358
|
0.00001
|
|
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)
|
rs1426175410
|
0.00001
|
|
NM_032638.5(GATA2):c.1179C>G (p.Ile393Met)
|
rs1553770437
|
0.00001
|
|
NM_032638.5(GATA2):c.1230G>T (p.Gly410=)
|
rs1461907039
|
0.00001
|
|
NM_032638.5(GATA2):c.371C>A (p.Thr124Lys)
|
rs569301892
|
0.00001
|
|
NM_032638.5(GATA2):c.409C>T (p.Pro137Ser)
|
rs113166293
|
0.00001
|
|
NM_032656.4(DHX37):c.-2C>T
|
rs762376312
|
0.00001
|
|
NM_032833.5(PPP1R15B):c.1692C>T (p.Asp564=)
|
rs754852409
|
0.00001
|
|
NM_032977.4(CASP10):c.1227C>T (p.Ser409=)
|
rs371401141
|
0.00001
|
|
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val)
|
rs1419955498
|
0.00001
|
|
NM_052867.4(NALCN):c.1764+6T>G
|
rs2039697770
|
0.00001
|
|
NM_052867.4(NALCN):c.4745G>A (p.Arg1582His)
|
rs764045715
|
0.00001
|
|
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met)
|
rs147517019
|
0.00001
|
|
NM_058216.3(RAD51C):c.102T>G (p.Thr34=)
|
rs550757849
|
0.00001
|
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
|
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)
|
rs587781680
|
0.00001
|
|
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)
|
rs199886026
|
0.00001
|
|
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)
|
rs587781287
|
0.00001
|
|
NM_130839.5(UBE3A):c.1009A>T (p.Met337Leu)
|
rs368318081
|
0.00001
|
|
NM_130839.5(UBE3A):c.1176A>T (p.Glu392Asp)
|
rs587784510
|
0.00001
|
|
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=)
|
rs1057520392
|
0.00001
|
|
NM_130839.5(UBE3A):c.1753+12A>G
|
rs368720379
|
0.00001
|
|
NM_130839.5(UBE3A):c.1754-4A>G
|
rs780429591
|
0.00001
|
|
NM_130839.5(UBE3A):c.176G>A (p.Arg59His)
|
rs587784511
|
0.00001
|
|
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=)
|
rs587784522
|
0.00001
|
|
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)
|
rs371296838
|
0.00001
|
|
NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile)
|
rs587784524
|
0.00001
|
|
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser)
|
rs587782922
|
0.00001
|
|
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)
|
rs119466000
|
0.00001
|
|
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp)
|
rs587783881
|
0.00001
|
|
NM_133433.4(NIPBL):c.1164T>C (p.Asn388=)
|
rs768113851
|
0.00001
|
|
NM_133433.4(NIPBL):c.1526C>G (p.Ser509Cys)
|
rs80358352
|
0.00001
|
|
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=)
|
rs587783903
|
0.00001
|
|
NM_133433.4(NIPBL):c.2505G>T (p.Gly835=)
|
rs587783908
|
0.00001
|
|
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu)
|
rs587783916
|
0.00001
|
|
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn)
|
rs587783920
|
0.00001
|
|
NM_133433.4(NIPBL):c.3347A>G (p.Glu1116Gly)
|
rs552620284
|
0.00001
|
|
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)
|
rs571024836
|
0.00001
|
|
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=)
|
rs143252734
|
0.00001
|
|
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys)
|
rs587783935
|
0.00001
|
|
NM_133433.4(NIPBL):c.4777-12T>C
|
rs80358381
|
0.00001
|
|
NM_133433.4(NIPBL):c.5010+9C>A
|
rs536151596
|
0.00001
|
|
NM_133433.4(NIPBL):c.5211G>A (p.Gln1737=)
|
rs587783962
|
0.00001
|
|
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=)
|
rs758853244
|
0.00001
|
|
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)
|
rs372730081
|
0.00001
|
|
NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=)
|
rs587784028
|
0.00001
|
|
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=)
|
rs587784046
|
0.00001
|
|
NM_133444.3(ZNF526):c.-2C>T
|
rs1021674497
|
0.00001
|
|
NM_133444.3(ZNF526):c.1384C>T (p.Arg462Cys)
|
rs760348469
|
0.00001
|
|
NM_133444.3(ZNF526):c.1870A>G (p.Met624Val)
|
rs797046129
|
0.00001
|
|
NM_133444.3(ZNF526):c.910C>T (p.Pro304Ser)
|
rs954678772
|
0.00001
|
|
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
|
rs372629986
|
0.00001
|
|
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr)
|
rs398124184
|
0.00001
|
|
NM_138386.3(NAF1):c.36A>G (p.Glu12=)
|
rs959538930
|
0.00001
|
|
NM_138386.3(NAF1):c.878+7A>G
|
rs376575422
|
0.00001
|
|
NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr)
|
rs1347079621
|
0.00001
|
|
NM_138422.4(ADAT3):c.67C>T (p.Leu23Phe)
|
rs1482874328
|
0.00001
|
|
NM_138425.4(C12orf57):c.240G>A (p.Lys80=)
|
rs781825705
|
0.00001
|
|
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)
|
rs764734730
|
0.00001
|
|
NM_138711.6(PPARG):c.1064G>A (p.Arg355Gln)
|
rs140204299
|
0.00001
|
|
NM_138711.6(PPARG):c.1206G>C (p.Lys402Asn)
|
rs1437186245
|
0.00001
|
|
NM_138711.6(PPARG):c.579G>A (p.Ala193=)
|
rs751812338
|
0.00001
|
|
NM_138711.6(PPARG):c.629G>A (p.Arg210Gln)
|
rs150296212
|
0.00001
|
|
NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln)
|
rs782213090
|
0.00001
|
|
NM_139058.3(ARX):c.196+6G>T
|
rs797045293
|
0.00001
|
|
NM_139058.3(ARX):c.807C>T (p.Ala269=)
|
rs587783205
|
0.00001
|
|
NM_139276.3(STAT3):c.373C>G (p.Gln125Glu)
|
rs574370336
|
0.00001
|
|
NM_144508.5(KNL1):c.1336A>G (p.Met446Val)
|
rs540961321
|
0.00001
|
|
NM_144508.5(KNL1):c.3517T>G (p.Phe1173Val)
|
rs373188974
|
0.00001
|
|
NM_144508.5(KNL1):c.3706G>T (p.Ala1236Ser)
|
rs775377691
|
0.00001
|
|
NM_144508.5(KNL1):c.4382A>T (p.Asn1461Ile)
|
rs1156447715
|
0.00001
|
|
NM_144599.5(NIPA1):c.746A>G (p.Asn249Ser)
|
rs780114915
|
0.00001
|
|
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp)
|
rs782423325
|
0.00001
|
|
NM_152383.5(DIS3L2):c.288T>C (p.Ile96=)
|
rs746032745
|
0.00001
|
|
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu)
|
rs368041601
|
0.00001
|
|
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe)
|
rs761972356
|
0.00001
|
|
NM_152564.5(VPS13B):c.10522G>A (p.Val3508Met)
|
rs142957181
|
0.00001
|
|
NM_152564.5(VPS13B):c.11355C>T (p.Ile3785=)
|
rs865965849
|
0.00001
|
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
|
NM_152564.5(VPS13B):c.1229G>A (p.Ser410Asn)
|
rs1465978289
|
0.00001
|
|
NM_152564.5(VPS13B):c.1526C>G (p.Thr509Ser)
|
rs1445396058
|
0.00001
|
|
NM_152564.5(VPS13B):c.162A>G (p.Pro54=)
|
rs747961838
|
0.00001
|
|
NM_152564.5(VPS13B):c.1753C>T (p.Arg585Cys)
|
rs769956475
|
0.00001
|
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
|
NM_152564.5(VPS13B):c.3333G>A (p.Pro1111=)
|
rs367791771
|
0.00001
|
|
NM_152564.5(VPS13B):c.3366G>C (p.Lys1122Asn)
|
rs752453891
|
0.00001
|
|
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His)
|
rs757707584
|
0.00001
|
|
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser)
|
rs770738729
|
0.00001
|
|
NM_152564.5(VPS13B):c.6658-3A>T
|
rs994417111
|
0.00001
|
|
NM_152564.5(VPS13B):c.6668G>A (p.Gly2223Asp)
|
rs189948782
|
0.00001
|
|
NM_152564.5(VPS13B):c.7247+9T>C
|
rs545008110
|
0.00001
|
|
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)
|
rs138453594
|
0.00001
|
|
NM_152564.5(VPS13B):c.8497A>G (p.Ile2833Val)
|
rs797046096
|
0.00001
|
|
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=)
|
rs199552885
|
0.00001
|
|
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly)
|
rs772361332
|
0.00001
|
|
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys)
|
rs756531043
|
0.00001
|
|
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn)
|
rs373384814
|
0.00001
|
|
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)
|
rs1381368546
|
0.00001
|
|
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp)
|
rs202225266
|
0.00001
|
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
|
NM_152701.5(ABCA13):c.11473+2T>C
|
rs797045205
|
0.00001
|
|
NM_152703.5(SAMD9L):c.1061C>T (p.Ala354Val)
|
rs912280663
|
0.00001
|
|
NM_152703.5(SAMD9L):c.1886G>A (p.Arg629Gln)
|
rs142436298
|
0.00001
|
|
NM_152703.5(SAMD9L):c.1923T>C (p.Ser641=)
|
rs770428709
|
0.00001
|
|
NM_152703.5(SAMD9L):c.1954G>A (p.Val652Ile)
|
rs150143522
|
0.00001
|
|
NM_152703.5(SAMD9L):c.2182T>C (p.Ser728Pro)
|
rs143935431
|
0.00001
|
|
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)
|
rs769611275
|
0.00001
|
|
NM_152703.5(SAMD9L):c.2963T>C (p.Ile988Thr)
|
rs776375139
|
0.00001
|
|
NM_152703.5(SAMD9L):c.3915A>G (p.Glu1305=)
|
rs140467160
|
0.00001
|
|
NM_152703.5(SAMD9L):c.414A>T (p.Lys138Asn)
|
rs770539370
|
0.00001
|
|
NM_152703.5(SAMD9L):c.4216C>T (p.Leu1406=)
|
rs754031991
|
0.00001
|
|
NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His)
|
rs190393069
|
0.00001
|
|
NM_152783.5(D2HGDH):c.1105G>A (p.Asp369Asn)
|
rs748762268
|
0.00001
|
|
NM_152783.5(D2HGDH):c.1535A>G (p.Asn512Ser)
|
rs797045508
|
0.00001
|
|
NM_152783.5(D2HGDH):c.263C>T (p.Pro88Leu)
|
rs750320267
|
0.00001
|
|
NM_152783.5(D2HGDH):c.432C>T (p.Asp144=)
|
rs541023216
|
0.00001
|
|
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu)
|
rs587783517
|
0.00001
|
|
NM_152783.5(D2HGDH):c.841G>A (p.Val281Met)
|
rs774490078
|
0.00001
|
|
NM_152783.5(D2HGDH):c.896G>A (p.Cys299Tyr)
|
rs769653234
|
0.00001
|
|
NM_152783.5(D2HGDH):c.921G>T (p.Leu307=)
|
rs774061348
|
0.00001
|
|
NM_153252.5(BRWD3):c.3690A>G (p.Ala1230=)
|
rs797045419
|
0.00001
|
|
NM_153252.5(BRWD3):c.369G>A (p.Ala123=)
|
rs751581469
|
0.00001
|
|
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)
|
rs1281778614
|
0.00001
|
|
NM_153704.6(TMEM67):c.2764+2T>A
|
rs1293481687
|
0.00001
|
|
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)
|
rs797046045
|
0.00001
|
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
|
NM_170707.4(LMNA):c.1604G>A (p.Gly535Glu)
|
rs747717293
|
0.00001
|
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
|
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)
|
rs397517897
|
0.00001
|
|
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)
|
rs769561386
|
0.00001
|
|
NM_170707.4(LMNA):c.513+12C>A
|
rs756758566
|
0.00001
|
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
|
NM_170784.3(MKKS):c.917A>G (p.Asn306Ser)
|
rs1412422841
|
0.00001
|
|
NM_170784.3(MKKS):c.986-10T>G
|
rs368654512
|
0.00001
|
|
NM_171998.4(RAB39B):c.350T>C (p.Val117Ala)
|
rs957747020
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1800G>A (p.Thr600=)
|
rs587780368
|
0.00001
|
|
NM_172351.3(CD46):c.1050G>A (p.Pro350=)
|
rs1210978043
|
0.00001
|
|
NM_173630.4(RTTN):c.1076T>C (p.Ile359Thr)
|
rs772137594
|
0.00001
|
|
NM_173630.4(RTTN):c.2520A>C (p.Ser840=)
|
rs1269456109
|
0.00001
|
|
NM_173630.4(RTTN):c.2581+7T>G
|
rs797045925
|
0.00001
|
|
NM_173630.4(RTTN):c.3337T>C (p.Cys1113Arg)
|
rs587780442
|
0.00001
|
|
NM_173630.4(RTTN):c.4327C>T (p.Leu1443Phe)
|
rs980776312
|
0.00001
|
|
NM_173630.4(RTTN):c.640A>G (p.Ile214Val)
|
rs797045926
|
0.00001
|
|
NM_173630.4(RTTN):c.998C>T (p.Ala333Val)
|
rs577076002
|
0.00001
|
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
|
NM_173660.5(DOK7):c.596del (p.Ile199fs)
|
rs797045528
|
0.00001
|
|
NM_173728.4(ARHGEF15):c.750C>T (p.Arg250=)
|
rs571072792
|
0.00001
|
|
NM_175914.4(HNF4A):c.-426C>G
|
rs1193282686
|
0.00001
|
|
NM_175914.5(HNF4A):c.-44C>T
|
rs546252382
|
0.00001
|
|
NM_175914.5(HNF4A):c.-46C>A
|
rs764879208
|
0.00001
|
|
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg)
|
rs757897768
|
0.00001
|
|
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser)
|
rs150776703
|
0.00001
|
|
NM_175914.5(HNF4A):c.906C>T (p.Asn302=)
|
rs186151007
|
0.00001
|
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
|
NM_176824.3(BBS7):c.2082C>A (p.Pro694=)
|
rs759152556
|
0.00001
|
|
NM_177438.3(DICER1):c.5388A>G (p.Glu1796=)
|
rs756025825
|
0.00001
|
|
NM_178012.5(TUBB2B):c.111T>C (p.His37=)
|
rs11550264
|
0.00001
|
|
NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr)
|
rs565666569
|
0.00001
|
|
NM_181303.2(NLGN3):c.870T>C (p.Gly290=)
|
rs1400594230
|
0.00001
|
|
NM_181332.3(NLGN4X):c.2361G>A (p.Thr787=)
|
rs374449420
|
0.00001
|
|
NM_181741.4(ORC4):c.638G>A (p.Arg213Gln)
|
rs1422827347
|
0.00001
|
|
NM_181741.4(ORC4):c.896C>T (p.Ala299Val)
|
rs776141895
|
0.00001
|
|
NM_182895.5(SCARF2):c.2488G>A (p.Asp830Asn)
|
rs749349489
|
0.00001
|
|
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys)
|
rs570556738
|
0.00001
|
|
NM_182961.4(SYNE1):c.226-10C>T
|
rs1353706819
|
0.00001
|
|
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)
|
rs797046025
|
0.00001
|
|
NM_182961.4(SYNE1):c.5256C>A (p.Ile1752=)
|
rs587780469
|
0.00001
|
|
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser)
|
rs568309673
|
0.00001
|
|
NM_194292.3(SASS6):c.86G>A (p.Ser29Asn)
|
rs150589706
|
0.00001
|
|
NM_198253.2(TERT):c.-222G>A
|
rs1579599831
|
0.00001
|
|
NM_198253.3(TERT):c.-139C>T
|
rs35550267
|
0.00001
|
|
NM_198253.3(TERT):c.1462C>T (p.Leu488Phe)
|
rs746216837
|
0.00001
|
|
NM_198253.3(TERT):c.1609C>T (p.Arg537Cys)
|
rs760352197
|
0.00001
|
|
NM_198253.3(TERT):c.1719C>G (p.Leu573=)
|
rs978808687
|
0.00001
|
|
NM_198253.3(TERT):c.1896G>A (p.Pro632=)
|
rs140056333
|
0.00001
|
|
NM_198253.3(TERT):c.2205C>A (p.Pro735=)
|
rs772650889
|
0.00001
|
|
NM_198253.3(TERT):c.2227C>T (p.Arg743Trp)
|
rs1388515349
|
0.00001
|
|
NM_198253.3(TERT):c.2376C>T (p.Ile792=)
|
rs769431975
|
0.00001
|
|
NM_198253.3(TERT):c.2582+7C>A
|
rs766415474
|
0.00001
|
|
NM_198253.3(TERT):c.264G>C (p.Leu88=)
|
rs768398792
|
0.00001
|
|
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)
|
rs1422814635
|
0.00001
|
|
NM_198253.3(TERT):c.2844-11_2844-10del
|
rs773793700
|
0.00001
|
|
NM_198253.3(TERT):c.404G>C (p.Gly135Ala)
|
rs1414898591
|
0.00001
|
|
NM_198253.3(TERT):c.568G>A (p.Ala190Thr)
|
rs377016753
|
0.00001
|
|
NM_198253.3(TERT):c.571A>G (p.Ser191Gly)
|
rs1425605385
|
0.00001
|
|
NM_198253.3(TERT):c.900C>T (p.Gly300=)
|
rs987435263
|
0.00001
|
|
NM_198291.3(SRC):c.582C>T (p.Phe194=)
|
rs766810850
|
0.00001
|
|
NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr)
|
rs567836651
|
0.00001
|
|
NM_198525.3(KIF7):c.2907G>C (p.Glu969Asp)
|
rs750812056
|
0.00001
|
|
NM_198525.3(KIF7):c.2930G>A (p.Arg977Gln)
|
rs769540024
|
0.00001
|
|
NM_198576.4(AGRN):c.3856C>A (p.Pro1286Thr)
|
rs760218476
|
0.00001
|
|
NM_198994.3(TGM6):c.1678+1G>A
|
rs145535883
|
0.00001
|
|
NM_201384.3(PLEC):c.3623A>C (p.Gln1208Pro)
|
rs1441764984
|
0.00001
|
|
NM_201384.3(PLEC):c.3766G>C (p.Glu1256Gln)
|
rs1384763800
|
0.00001
|
|
NM_201384.3(PLEC):c.3883C>T (p.Pro1295Ser)
|
rs587780419
|
0.00001
|
|
NM_201384.3(PLEC):c.5053C>T (p.Arg1685Trp)
|
rs781802082
|
0.00001
|
|
NM_201525.4(ADGRG1):c.1246C>T (p.Leu416=)
|
rs587783651
|
0.00001
|
|
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro)
|
rs587783654
|
0.00001
|
|
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter)
|
rs146278035
|
0.00001
|
|
NM_201525.4(ADGRG1):c.287G>A (p.Arg96Gln)
|
rs587783659
|
0.00001
|
|
NM_201525.4(ADGRG1):c.620+1G>A
|
rs587783660
|
0.00001
|
|
NM_201525.4(ADGRG1):c.64+15G>T
|
rs200303272
|
0.00001
|
|
NM_201525.4(ADGRG1):c.768+4A>C
|
rs766802563
|
0.00001
|
|
NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp)
|
rs532188689
|
0.00001
|
|
NM_203447.4(DOCK8):c.1010C>G (p.Thr337Ser)
|
rs747864013
|
0.00001
|
|
NM_203447.4(DOCK8):c.4527C>G (p.His1509Gln)
|
rs533492555
|
0.00001
|
|
NM_203447.4(DOCK8):c.5799C>T (p.Ser1933=)
|
rs149602835
|
0.00001
|
|
NM_203447.4(DOCK8):c.6025C>T (p.His2009Tyr)
|
rs534366023
|
0.00001
|
|
NM_206937.2(LIG4):c.1883G>A (p.Arg628Gln)
|
rs369138956
|
0.00001
|
|
NM_206937.2(LIG4):c.2035G>C (p.Glu679Gln)
|
rs957569908
|
0.00001
|
|
NM_206937.2(LIG4):c.864T>C (p.Tyr288=)
|
rs797045681
|
0.00001
|
|
NM_207346.3(TSEN54):c.1074G>A (p.Glu358=)
|
rs775864125
|
0.00001
|
|
NM_207346.3(TSEN54):c.1431-3C>A
|
rs748131735
|
0.00001
|
|
NM_207346.3(TSEN54):c.1A>C (p.Met1Leu)
|
rs587784478
|
0.00001
|
|
NM_207346.3(TSEN54):c.964C>G (p.Leu322Val)
|
rs587784480
|
0.00001
|
|
NM_207361.6(FREM2):c.3112G>T (p.Asp1038Tyr)
|
rs761464358
|
0.00001
|
|
NM_207361.6(FREM2):c.7436A>G (p.Gln2479Arg)
|
rs1420143509
|
0.00001
|
|
NM_213622.4(STAMBP):c.1181G>C (p.Gly394Ala)
|
rs754884500
|
0.00001
|
|
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly)
|
rs397509387
|
0.00001
|
|
NM_213622.4(STAMBP):c.997T>G (p.Trp333Gly)
|
rs746961743
|
0.00001
|
|
NR_001566.1(TERC):n.-412G>A
|
rs538699304
|
0.00001
|
|
NG_011903.1:g.104329_104337del
|
rs2124375890
|
|
|
NM_000017.4(ACADS):c.795+1G>A
|
rs752978753
|
|
|
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter)
|
rs1064796530
|
|
|
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)
|
rs1318118188
|
|
|
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)
|
rs1555152774
|
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
|
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg)
|
rs1555568318
|
|
|
NM_000032.5(ALAS2):c.1192G>A (p.Gly398Ser)
|
rs2146716626
|
|
|
NM_000032.5(ALAS2):c.1357A>C (p.Asn453His)
|
rs1480028429
|
|
|
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr)
|
rs199826743
|
|
|
NM_000032.5(ALAS2):c.231C>A (p.Leu77=)
|
rs760900782
|
|
|
NM_000032.5(ALAS2):c.352G>A (p.Gly118Ser)
|
|
|
|
NM_000032.5(ALAS2):c.634A>C (p.Thr212Pro)
|
rs2146722682
|
|
|
NM_000033.4(ABCD1):c.2170G>A (p.Val724Met)
|
rs782212963
|
|
|
NM_000038.6(APC):c.1995A>G (p.Leu665=)
|
rs1023818848
|
|
|
NM_000038.6(APC):c.2621C>T (p.Ser874Leu)
|
rs1554084318
|
|
|
NM_000038.6(APC):c.2941C>T (p.Pro981Ser)
|
rs2149880710
|
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
|
NM_000038.6(APC):c.396A>G (p.Gly132=)
|
rs1060504884
|
|
|
NM_000038.6(APC):c.4020T>C (p.Ser1340=)
|
rs746379898
|
|
|
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)
|
rs387906236
|
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
|
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)
|
rs72541813
|
|
|
NM_000038.6(APC):c.4993C>G (p.Pro1665Ala)
|
rs1561596883
|
|
|
NM_000038.6(APC):c.5840C>G (p.Thr1947Ser)
|
rs575724078
|
|
|
NM_000038.6(APC):c.6230_6236del (p.Thr2077fs)
|
rs2149960139
|
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
|
NM_000038.6(APC):c.6820G>A (p.Ala2274Thr)
|
rs2149974011
|
|
|
NM_000038.6(APC):c.7037C>T (p.Pro2346Leu)
|
rs2149978691
|
|
|
NM_000039.3(APOA1):c.242T>A (p.Phe81Tyr)
|
rs757011774
|
|
|
NM_000039.3(APOA1):c.51G>C (p.Gln17His)
|
|
|
|
NM_000043.6(FAS):c.318G>C (p.Leu106Phe)
|
rs770100045
|
|
|
NM_000044.6(AR):c.1370GCG[10] (p.Gly467_Gly473del)
|
rs746853821
|
|
|
NM_000044.6(AR):c.1370GCG[12] (p.Gly469_Gly473del)
|
rs746853821
|
|
|
NM_000044.6(AR):c.1370GCG[13] (p.Gly470_Gly473del)
|
rs746853821
|
|
|
NM_000044.6(AR):c.1370GCG[14] (p.Gly471_Gly473del)
|
rs746853821
|
|
|
NM_000044.6(AR):c.1370GCG[15] (p.Gly472_Gly473del)
|
rs746853821
|
|
|
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup)
|
rs746853821
|
|
|
NM_000044.6(AR):c.1379_1380insGCG (p.Gly460_Gly461insArg)
|
rs1555969966
|
|
|
NM_000044.6(AR):c.170delinsAGCA (p.Leu57delinsGlnGln)
|
rs2147314625
|
|
|
NM_000044.6(AR):c.171GCA[16] (p.Gln74_Gln80del)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[17] (p.Gln75_Gln80del)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup)
|
rs3032358
|
|
|
NM_000044.6(AR):c.1768+2T>C
|
rs1555982894
|
|
|
NM_000044.6(AR):c.177_178insGCAGCAGCAGCA (p.Gln59_Gln60insAlaAlaAlaAla)
|
rs1555969482
|
|
|
NM_000044.6(AR):c.1823G>A (p.Arg608Gln)
|
rs137852573
|
|
|
NM_000044.6(AR):c.183_184insGCAGCA (p.Gln61_Gln62insAlaAla)
|
rs1555969487
|
|
|
NM_000044.6(AR):c.1846C>T (p.Arg616Cys)
|
rs1555990485
|
|
|
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr)
|
rs1555995842
|
|
|
NM_000044.6(AR):c.2197G>A (p.Asp733Asn)
|
rs2147530668
|
|
|
NM_000044.6(AR):c.2323C>T (p.Arg775Cys)
|
rs137852562
|
|
|
NM_000044.6(AR):c.2359C>T (p.Arg787Ter)
|
rs1555997580
|
|
|
NM_000044.6(AR):c.2451T>C (p.Ile817=)
|
rs1555997755
|
|
|
NM_000044.6(AR):c.2668G>T (p.Val890Leu)
|
rs886041133
|
|
|
NM_000044.6(AR):c.654C>T (p.Pro218=)
|
rs751027309
|
|
|
NM_000044.6(AR):c.675_678del (p.Asn224_Tyr225insTer)
|
rs2147317782
|
|
|
NM_000047.3(ARSL):c.495T>G (p.His165Gln)
|
rs35274634
|
|
|
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)
|
rs111407265
|
|
|
NM_000051.3(ATM):c.-171G>A
|
rs2134936334
|
|
|
NM_000051.3(ATM):c.-241G>C
|
rs1800065
|
|
|
NM_000051.3(ATM):c.-327T>C
|
rs557572386
|
|
|
NM_000051.4(ATM):c.-147T>C
|
rs540204119
|
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
|
NM_000051.4(ATM):c.1367del (p.Leu456fs)
|
rs1555070832
|
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
|
NM_000051.4(ATM):c.165G>C (p.Leu55Phe)
|
rs1555054230
|
|
|
NM_000051.4(ATM):c.1679A>T (p.Glu560Val)
|
rs762476611
|
|
|
NM_000051.4(ATM):c.1802+35_1802+36del
|
rs749339972
|
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
|
NM_000051.4(ATM):c.1990A>G (p.Thr664Ala)
|
rs797045319
|
|
|
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)
|
rs754033733
|
|
|
NM_000051.4(ATM):c.2104C>G (p.Leu702Val)
|
rs1555073490
|
|
|
NM_000051.4(ATM):c.2148C>G (p.Val716=)
|
rs1800701
|
|
|
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln)
|
rs768874297
|
|
|
NM_000051.4(ATM):c.2176C>T (p.Leu726Phe)
|
rs775266056
|
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
|
NM_000051.4(ATM):c.242A>G (p.Asn81Ser)
|
rs2135034894
|
|
|
NM_000051.4(ATM):c.2563A>T (p.Met855Leu)
|
rs749844591
|
|
|
NM_000051.4(ATM):c.2571_2572del (p.Leu857_Phe858insTer)
|
rs1555082257
|
|
|
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)
|
rs786202695
|
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
|
NM_000051.4(ATM):c.2838G>A (p.Met946Ile)
|
|
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
|
NM_000051.4(ATM):c.3157G>A (p.Asp1053Asn)
|
rs876660172
|
|
|
NM_000051.4(ATM):c.3298A>C (p.Thr1100Pro)
|
rs2082115524
|
|
|
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg)
|
rs1064795850
|
|
|
NM_000051.4(ATM):c.3403-13dup
|
rs3218681
|
|
|
NM_000051.4(ATM):c.3510A>G (p.Lys1170=)
|
rs2135668576
|
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
|
NM_000051.4(ATM):c.3778G>A (p.Val1260Met)
|
rs587782035
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
|
NM_000051.4(ATM):c.3927A>G (p.Ala1309=)
|
rs1555093665
|
|
|
NM_000051.4(ATM):c.3994-12G>T
|
rs1057520398
|
|
|
NM_000051.4(ATM):c.4179C>A (p.Ile1393=)
|
rs775688446
|
|
|
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val)
|
rs774886013
|
|
|
NM_000051.4(ATM):c.4416G>A (p.Leu1472=)
|
rs201526888
|
|
|
NM_000051.4(ATM):c.4532A>G (p.Asp1511Gly)
|
rs1591674356
|
|
|
NM_000051.4(ATM):c.4652A>G (p.Asp1551Gly)
|
rs1555100455
|
|
|
NM_000051.4(ATM):c.4664T>A (p.Leu1555His)
|
rs1060501524
|
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
|
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe)
|
rs1057523385
|
|
|
NM_000051.4(ATM):c.5190A>G (p.Arg1730=)
|
rs786201609
|
|
|
NM_000051.4(ATM):c.5204C>T (p.Thr1735Ile)
|
rs1555105650
|
|
|
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)
|
rs760060843
|
|
|
NM_000051.4(ATM):c.5546T>C (p.Ile1849Thr)
|
rs2135943454
|
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
|
NM_000051.4(ATM):c.6401C>G (p.Ser2134Cys)
|
rs2136220770
|
|
|
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala)
|
rs1263398076
|
|
|
NM_000051.4(ATM):c.6509A>G (p.Tyr2170Cys)
|
rs1555117171
|
|
|
NM_000051.4(ATM):c.6718_6719delinsTT (p.Asp2240Phe)
|
rs2136314186
|
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
|
NM_000051.4(ATM):c.6T>G (p.Ser2Arg)
|
rs748158168
|
|
|
NM_000051.4(ATM):c.7122A>G (p.Glu2374=)
|
rs376159946
|
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
|
NM_000051.4(ATM):c.7195C>G (p.Gln2399Glu)
|
rs2085985186
|
|
|
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)
|
rs769166447
|
|
|
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)
|
rs769523686
|
|
|
NM_000051.4(ATM):c.7927+13dup
|
rs587781324
|
|
|
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn)
|
rs876659066
|
|
|
NM_000051.4(ATM):c.8397del (p.Gln2800fs)
|
rs587781837
|
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
|
NM_000051.4(ATM):c.8419-8A>G
|
rs567215034
|
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
|
NM_000051.4(ATM):c.8615A>G (p.His2872Arg)
|
rs1591273938
|
|
|
NM_000051.4(ATM):c.8628C>T (p.Ile2876=)
|
rs1555139577
|
|
|
NM_000051.4(ATM):c.8704A>G (p.Thr2902Ala)
|
rs2137288475
|
|
|
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His)
|
rs371619067
|
|
|
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)
|
rs587781413
|
|
|
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe)
|
rs1555152033
|
|
|
NM_000052.6(ATP7A):c.3152_3156delACGGAins4
|
|
|
|
NM_000052.7(ATP7A):c.-54T>C
|
rs797045324
|
|
|
NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter)
|
rs797045325
|
|
|
NM_000052.7(ATP7A):c.1013T>A (p.Val338Glu)
|
rs797045326
|
|
|
NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs)
|
rs797045327
|
|
|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
|
NM_000052.7(ATP7A):c.1299A>T (p.Gly433=)
|
rs797045328
|
|
|
NM_000052.7(ATP7A):c.1355del (p.Val452fs)
|
rs797045329
|
|
|
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter)
|
rs797045330
|
|
|
NM_000052.7(ATP7A):c.1544-1G>A
|
rs797045331
|
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
|
NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs)
|
rs797045333
|
|
|
NM_000052.7(ATP7A):c.1707+6T>A
|
rs797045334
|
|
|
NM_000052.7(ATP7A):c.1708-11G>T
|
rs797045335
|
|
|
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)
|
rs797045336
|
|
|
NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter)
|
rs797045337
|
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
|
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro)
|
rs72554639
|
|
|
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)
|
rs151340631
|
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
|
NM_000052.7(ATP7A):c.1946+1G>C
|
rs797045340
|
|
|
NM_000052.7(ATP7A):c.1946+5G>A
|
rs797045341
|
|
|
NM_000052.7(ATP7A):c.1947-1G>C
|
rs794729231
|
|
|
NM_000052.7(ATP7A):c.1950G>A (p.Trp650Ter)
|
rs797045342
|
|
|
NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs)
|
rs797045343
|
|
|
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg)
|
rs797045344
|
|
|
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)
|
rs797045344
|
|
|
NM_000052.7(ATP7A):c.2006T>C (p.Ile669Thr)
|
rs2234935
|
|
|
NM_000052.7(ATP7A):c.2106G>T (p.Glu702Asp)
|
rs797045345
|
|
|
NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter)
|
rs797045346
|
|
|
NM_000052.7(ATP7A):c.2172+5G>C
|
rs797045347
|
|
|
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His)
|
rs797045348
|
|
|
NM_000052.7(ATP7A):c.2173-2A>G
|
rs797045349
|
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
|
NM_000052.7(ATP7A):c.2179G>T (p.Gly727Ter)
|
rs72554644
|
|
|
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp)
|
rs797045350
|
|
|
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter)
|
rs797045351
|
|
|
NM_000052.7(ATP7A):c.2248_2251dup (p.Val751fs)
|
rs797045352
|
|
|
NM_000052.7(ATP7A):c.2302del (p.Ala768fs)
|
rs797045353
|
|
|
NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg)
|
rs797045354
|
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
|
NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs)
|
rs797045355
|
|
|
NM_000052.7(ATP7A):c.2405_2406+1delinsT
|
rs797045356
|
|
|
NM_000052.7(ATP7A):c.2498+2T>A
|
rs797045357
|
|
|
NM_000052.7(ATP7A):c.2499-1G>A
|
rs797045359
|
|
|
NM_000052.7(ATP7A):c.2499-1_2504dup
|
rs797045358
|
|
|
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu)
|
rs797045360
|
|
|
NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer)
|
rs797045361
|
|
|
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp)
|
rs797045362
|
|
|
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn)
|
rs797045363
|
|
|
NM_000052.7(ATP7A):c.2916+3_2916+6del
|
rs797045364
|
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
|
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)
|
rs797045365
|
|
|
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp)
|
rs72554652
|
|
|
NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del)
|
rs797045366
|
|
|
NM_000052.7(ATP7A):c.3112-1G>A
|
rs797045367
|
|
|
NM_000052.7(ATP7A):c.3124del (p.Val1042fs)
|
rs797045368
|
|
|
NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly)
|
rs797045369
|
|
|
NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu)
|
rs797045370
|
|
|
NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter)
|
rs797045372
|
|
|
NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter)
|
rs797045373
|
|
|
NM_000052.7(ATP7A):c.3294+1G>T
|
rs797045374
|
|
|
NM_000052.7(ATP7A):c.3295-12_3295-3del
|
rs1557237409
|
|
|
NM_000052.7(ATP7A):c.3340del (p.Val1114fs)
|
rs797045375
|
|
|
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys)
|
rs797045376
|
|
|
NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter)
|
rs797045377
|
|
|
NM_000052.7(ATP7A):c.3466C>T (p.Gln1156Ter)
|
rs797045378
|
|
|
NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter)
|
rs797045379
|
|
|
NM_000052.7(ATP7A):c.3537del (p.Val1180fs)
|
rs797045380
|
|
|
NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu)
|
rs797045382
|
|
|
NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer)
|
rs797045383
|
|
|
NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs)
|
rs797045384
|
|
|
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu)
|
rs797045385
|
|
|
NM_000052.7(ATP7A):c.3801+1G>T
|
rs797045386
|
|
|
NM_000052.7(ATP7A):c.3801+4A>G
|
rs797045387
|
|
|
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)
|
rs151340632
|
|
|
NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg)
|
rs797045388
|
|
|
NM_000052.7(ATP7A):c.3920del (p.Pro1307fs)
|
rs797045389
|
|
|
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg)
|
rs797045390
|
|
|
NM_000052.7(ATP7A):c.4005+1G>T
|
rs797045391
|
|
|
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del)
|
rs797045392
|
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
|
NM_000052.7(ATP7A):c.4123+1G>A
|
rs797045393
|
|
|
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg)
|
rs797045394
|
|
|
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs)
|
rs797045395
|
|
|
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu)
|
rs797045396
|
|
|
NM_000052.7(ATP7A):c.4226+5G>A
|
rs797045398
|
|
|
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
|
rs797045397
|
|
|
NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter)
|
rs797045399
|
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
|
NM_000052.7(ATP7A):c.876del (p.Ser293fs)
|
rs797045400
|
|
|
NM_000053.3(ATP7B):c.-119del
|
rs587783297
|
|
|
NM_000053.4(ATP7B):c.1336G>C (p.Val446Leu)
|
rs587783298
|
|
|
NM_000053.4(ATP7B):c.1707+9TG[3]
|
rs797045401
|
|
|
NM_000053.4(ATP7B):c.1878C>T (p.Gly626=)
|
rs587783300
|
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
|
NM_000053.4(ATP7B):c.2166G>A (p.Leu722=)
|
rs587783302
|
|
|
NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter)
|
rs191312027
|
|
|
NM_000053.4(ATP7B):c.2623G>A (p.Gly875Arg)
|
rs587783304
|
|
|
NM_000053.4(ATP7B):c.2673C>G (p.Gly891=)
|
rs587783305
|
|
|
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro)
|
rs587783307
|
|
|
NM_000053.4(ATP7B):c.3210C>T (p.Pro1070=)
|
rs587783310
|
|
|
NM_000053.4(ATP7B):c.3381G>A (p.Leu1127=)
|
rs587783311
|
|
|
NM_000053.4(ATP7B):c.3399T>C (p.Leu1133=)
|
rs587783312
|
|
|
NM_000053.4(ATP7B):c.3428C>A (p.Thr1143Asn)
|
rs587783313
|
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
|
NM_000053.4(ATP7B):c.3557-1G>C
|
rs2138674428
|
|
|
NM_000053.4(ATP7B):c.3733C>T (p.Pro1245Ser)
|
rs587783316
|
|
|
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)
|
rs587783317
|
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
|
NM_000053.4(ATP7B):c.41C>A (p.Ala14Asp)
|
rs587783319
|
|
|
NM_000053.4(ATP7B):c.870G>C (p.Val290=)
|
rs587783321
|
|
|
NM_000053.4(ATP7B):c.9G>A (p.Glu3=)
|
rs587783322
|
|
|
NM_000057.4(BLM):c.*6G>A
|
rs375331228
|
|
|
NM_000057.4(BLM):c.*9TC[1]
|
rs751726607
|
|
|
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg)
|
rs1022898915
|
|
|
NM_000057.4(BLM):c.146T>C (p.Val49Ala)
|
rs1895601341
|
|
|
NM_000057.4(BLM):c.1782A>G (p.Lys594=)
|
rs2151158960
|
|
|
NM_000057.4(BLM):c.191A>G (p.Asp64Gly)
|
rs140382474
|
|
|
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg)
|
rs377563699
|
|
|
NM_000057.4(BLM):c.2148G>A (p.Leu716=)
|
rs2151162471
|
|
|
NM_000057.4(BLM):c.2407-7del
|
rs769184675
|
|
|
NM_000057.4(BLM):c.2556G>T (p.Val852=)
|
rs1896650229
|
|
|
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser)
|
rs777842626
|
|
|
NM_000057.4(BLM):c.2729G>A (p.Arg910Lys)
|
rs1567053290
|
|
|
NM_000057.4(BLM):c.294A>C (p.Glu98Asp)
|
rs2151147036
|
|
|
NM_000057.4(BLM):c.2991T>A (p.Asp997Glu)
|
|
|
|
NM_000057.4(BLM):c.3262G>A (p.Val1088Ile)
|
rs934966838
|
|
|
NM_000057.4(BLM):c.3272A>G (p.His1091Arg)
|
rs750954124
|
|
|
NM_000057.4(BLM):c.382G>A (p.Val128Ile)
|
rs1269873284
|
|
|
NM_000057.4(BLM):c.387_389del (p.Lys130del)
|
rs587778105
|
|
|
NM_000057.4(BLM):c.4076+4T>C
|
rs183176301
|
|
|
NM_000057.4(BLM):c.4077-59_4077-57dup
|
rs10685387
|
|
|
NM_000057.4(BLM):c.4169C>T (p.Ser1390Leu)
|
rs2151202361
|
|
|
NM_000057.4(BLM):c.4209G>A (p.Lys1403=)
|
rs1254277623
|
|
|
NM_000057.4(BLM):c.540A>C (p.Val180=)
|
rs763776756
|
|
|
NM_000057.4(BLM):c.544A>G (p.Thr182Ala)
|
rs1060500643
|
|
|
NM_000057.4(BLM):c.852G>A (p.Glu284=)
|
rs2151149592
|
|
|
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys)
|
rs775005766
|
|
|
NM_000057.4(BLM):c.972C>T (p.Asp324=)
|
rs769094708
|
|
|
NM_000059.4(BRCA2):c.*8C>T
|
rs747134610
|
|
|
NM_000059.4(BRCA2):c.-188C>T
|
rs556172218
|
|
|
NM_000059.4(BRCA2):c.-196G>A
|
rs1555279932
|
|
|
NM_000059.4(BRCA2):c.-59_-57del
|
rs545321666
|
|
|
NM_000059.4(BRCA2):c.10062T>C (p.Ser3354=)
|
rs764584497
|
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
|
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)
|
rs80358404
|
|
|
NM_000059.4(BRCA2):c.1295A>C (p.Glu432Ala)
|
rs1161226532
|
|
|
NM_000059.4(BRCA2):c.1340C>T (p.Pro447Leu)
|
rs587776459
|
|
|
NM_000059.4(BRCA2):c.1417C>T (p.His473Tyr)
|
rs2137471224
|
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
|
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)
|
rs11571587
|
|
|
NM_000059.4(BRCA2):c.1909+21_1909+22dup
|
rs276174816
|
|
|
NM_000059.4(BRCA2):c.1909+9_1909+10del
|
rs527732001
|
|
|
NM_000059.4(BRCA2):c.2327A>G (p.Lys776Arg)
|
rs876659502
|
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
|
NM_000059.4(BRCA2):c.244A>C (p.Lys82Gln)
|
rs397507628
|
|
|
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=)
|
rs786201315
|
|
|
NM_000059.4(BRCA2):c.2800G>A (p.Gly934Ser)
|
rs1555282859
|
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
|
NM_000059.4(BRCA2):c.3051C>T (p.Ile1017=)
|
rs786201561
|
|
|
NM_000059.4(BRCA2):c.3382A>G (p.Thr1128Ala)
|
rs730881523
|
|
|
NM_000059.4(BRCA2):c.3681G>A (p.Leu1227=)
|
rs758007548
|
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.4031A>G (p.Asn1344Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
|
NM_000059.4(BRCA2):c.4213A>G (p.Asn1405Asp)
|
rs1555283633
|
|
|
NM_000059.4(BRCA2):c.4240A>G (p.Thr1414Ala)
|
rs878853581
|
|
|
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs)
|
rs80359451
|
|
|
NM_000059.4(BRCA2):c.4478A>C (p.Glu1493Ala)
|
rs80358679
|
|
|
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=)
|
rs206075
|
|
|
NM_000059.4(BRCA2):c.4567G>A (p.Gly1523Ser)
|
rs587781418
|
|
|
NM_000059.4(BRCA2):c.4632C>G (p.Asn1544Lys)
|
rs1593902960
|
|
|
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)
|
rs80359462
|
|
|
NM_000059.4(BRCA2):c.4731A>G (p.Glu1577=)
|
rs2137509579
|
|
|
NM_000059.4(BRCA2):c.4829T>A (p.Val1610Glu)
|
rs2072513765
|
|
|
NM_000059.4(BRCA2):c.482G>A (p.Cys161Tyr)
|
rs876659740
|
|
|
NM_000059.4(BRCA2):c.484G>A (p.Gly162Arg)
|
rs1555280983
|
|
|
NM_000059.4(BRCA2):c.4886C>T (p.Thr1629Ile)
|
rs587781581
|
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
|
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn)
|
rs80358731
|
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
|
NM_000059.4(BRCA2):c.5273A>G (p.Asn1758Ser)
|
rs2072525612
|
|
|
NM_000059.4(BRCA2):c.5285A>G (p.Tyr1762Cys)
|
rs80358753
|
|
|
NM_000059.4(BRCA2):c.545A>G (p.Glu182Gly)
|
rs786202685
|
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
|
NM_000059.4(BRCA2):c.6060A>G (p.Glu2020=)
|
rs1555284516
|
|
|
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)
|
rs80358851
|
|
|
NM_000059.4(BRCA2):c.6187_6188delinsAA (p.Gly2063Lys)
|
|
|
|
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)
|
rs780721021
|
|
|
NM_000059.4(BRCA2):c.6553G>C (p.Ala2185Pro)
|
rs746070652
|
|
|
NM_000059.4(BRCA2):c.67+1G>C
|
rs81002796
|
|
|
NM_000059.4(BRCA2):c.682-11A>G
|
rs994470407
|
|
|
NM_000059.4(BRCA2):c.6980T>C (p.Leu2327Ser)
|
rs750917769
|
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
|
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe)
|
rs587780871
|
|
|
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs)
|
rs80359641
|
|
|
NM_000059.4(BRCA2):c.741C>T (p.Ile247=)
|
rs276174892
|
|
|
NM_000059.4(BRCA2):c.7480C>A (p.Arg2494=)
|
rs80358972
|
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
|
NM_000059.4(BRCA2):c.7630G>C (p.Gly2544Arg)
|
rs587781485
|
|
|
NM_000059.4(BRCA2):c.7711G>A (p.Glu2571Lys)
|
rs876659501
|
|
|
NM_000059.4(BRCA2):c.7740G>T (p.Gln2580His)
|
rs2072710234
|
|
|
NM_000059.4(BRCA2):c.7805+4C>T
|
rs769367815
|
|
|
NM_000059.4(BRCA2):c.8029G>A (p.Glu2677Lys)
|
rs1555286958
|
|
|
NM_000059.4(BRCA2):c.8039A>G (p.Asp2680Gly)
|
rs80359042
|
|
|
NM_000059.4(BRCA2):c.8355T>C (p.Pro2785=)
|
rs1057524419
|
|
|
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)
|
rs80359094
|
|
|
NM_000059.4(BRCA2):c.8488-5T>C
|
rs533806629
|
|
|
NM_000059.4(BRCA2):c.8710C>T (p.Leu2904Phe)
|
rs1555288167
|
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
|
NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln)
|
rs80359145
|
|
|
NM_000059.4(BRCA2):c.8953+5del
|
rs797045414
|
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
|
NM_000059.4(BRCA2):c.9265C>G (p.Pro3089Ala)
|
rs1593199583
|
|
|
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro)
|
rs28897758
|
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
|
NM_000059.4(BRCA2):c.9945dup (p.Glu3316fs)
|
rs431825381
|
|
|
NM_000061.3(BTK):c.1821_1832del (p.Glu608_Ala611del)
|
|
|
|
NM_000062.3(SERPING1):c.1081C>T (p.Gln361Ter)
|
|
|
|
NM_000064.4(C3):c.-3_-2dup
|
rs528697923
|
|
|
NM_000064.4(C3):c.4044C>T (p.Tyr1348=)
|
|
|
|
NM_000064.4(C3):c.4350+6G>T
|
rs369993135
|
|
|
NM_000064.4(C3):c.877-23_877-10dup
|
rs756846986
|
|
|
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)
|
rs587780289
|
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
|
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)
|
rs797045427
|
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
|
NM_000074.3(CD40LG):c.335A>G (p.Glu112Gly)
|
|
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
|
NM_000077.5(CDKN2A):c.407dup (p.Thr137fs)
|
rs749588877
|
|
|
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs)
|
rs1156634884
|
|
|
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)
|
rs762368691
|
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
|
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe)
|
rs121909511
|
|
|
NM_000081.4(LYST):c.5461-3dup
|
rs557545474
|
|
|
NM_000081.4(LYST):c.7467C>T (p.Pro2489=)
|
rs797045685
|
|
|
NM_000081.4(LYST):c.8802-2A>G
|
|
|
|
NM_000083.3(CLCN1):c.1190T>C (p.Val397Ala)
|
rs368958317
|
|
|
NM_000092.5(COL4A4):c.2285C>T (p.Pro762Leu)
|
|
|
|
NM_000096.4(CP):c.2847T>G (p.Asp949Glu)
|
rs201431095
|
|
|
NM_000096.4(CP):c.737T>G (p.Val246Gly)
|
rs797045480
|
|
|
NM_000101.4(CYBA):c.246del (p.Phe83fs)
|
rs1439134665
|
|
|
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu)
|
rs1554879846
|
|
|
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)
|
rs121434319
|
|
|
NM_000110.4(DPYD):c.895C>T (p.Gln299Ter)
|
rs2102259303
|
|
|
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs)
|
rs1554095433
|
|
|
NM_000117.3(EMD):c.229C>T (p.Pro77Ser)
|
rs1557182365
|
|
|
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)
|
rs751292948
|
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
|
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter)
|
rs1850750513
|
|
|
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro)
|
rs4253211
|
|
|
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs)
|
rs797045562
|
|
|
NM_000135.2(FANCA):c.-138_-126dup
|
rs11275235
|
|
|
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu)
|
rs199967286
|
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
|
NM_000135.4(FANCA):c.1247C>T (p.Ala416Val)
|
rs750689577
|
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
|
NM_000135.4(FANCA):c.1620T>C (p.Ile540=)
|
rs1200375986
|
|
|
NM_000135.4(FANCA):c.1811T>C (p.Ile604Thr)
|
rs1555551989
|
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
|
NM_000135.4(FANCA):c.2070C>T (p.His690=)
|
rs1422723344
|
|
|
NM_000135.4(FANCA):c.2127G>A (p.Pro709=)
|
rs771226546
|
|
|
NM_000135.4(FANCA):c.2140C>G (p.Arg714Gly)
|
rs200284845
|
|
|
NM_000135.4(FANCA):c.2151+1G>A
|
rs1555548428
|
|
|
NM_000135.4(FANCA):c.2265A>T (p.Gly755=)
|
rs2143336208
|
|
|
NM_000135.4(FANCA):c.2316+12C>T
|
rs768355887
|
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
|
NM_000135.4(FANCA):c.2601+9A>T
|
rs771837383
|
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
|
NM_000135.4(FANCA):c.2657A>C (p.Glu886Ala)
|
rs2143289128
|
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
|
NM_000135.4(FANCA):c.2853-7G>T
|
rs1244691285
|
|
|
NM_000135.4(FANCA):c.2927A>G (p.Asp976Gly)
|
rs2143224701
|
|
|
NM_000135.4(FANCA):c.2942G>C (p.Cys981Ser)
|
rs1555542910
|
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
|
NM_000135.4(FANCA):c.3212G>A (p.Arg1071Lys)
|
rs924918296
|
|
|
NM_000135.4(FANCA):c.3239+11C>G
|
rs200232122
|
|
|
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)
|
rs536839082
|
|
|
NM_000135.4(FANCA):c.3315C>T (p.Cys1105=)
|
rs749550737
|
|
|
NM_000135.4(FANCA):c.3540G>A (p.Val1180=)
|
rs1423399664
|
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
|
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys)
|
rs1015729981
|
|
|
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)
|
rs927201841
|
|
|
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)
|
rs1336834251
|
|
|
NM_000135.4(FANCA):c.523-1G>T
|
rs1477653630
|
|
|
NM_000135.4(FANCA):c.668C>T (p.Ala223Val)
|
rs749362808
|
|
|
NM_000135.4(FANCA):c.805G>T (p.Val269Leu)
|
rs1555566973
|
|
|
NM_000135.4(FANCA):c.826+5_826+9del
|
rs797045570
|
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
|
NM_000136.3(FANCC):c.-119A>G
|
rs2136457198
|
|
|
NM_000136.3(FANCC):c.-123C>A
|
rs2136457202
|
|
|
NM_000136.3(FANCC):c.1633_1635del (p.Lys545del)
|
rs2134382487
|
|
|
NM_000136.3(FANCC):c.165+7A>G
|
rs1554858246
|
|
|
NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg)
|
rs1197938479
|
|
|
NM_000136.3(FANCC):c.251-4G>T
|
rs2136049721
|
|
|
NM_000136.3(FANCC):c.327A>T (p.Lys109Asn)
|
|
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
|
NM_000136.3(FANCC):c.691A>G (p.Lys231Glu)
|
rs1314066337
|
|
|
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr)
|
rs972738983
|
|
|
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)
|
rs1555399968
|
|
|
NM_000141.5(FGFR2):c.*1A>G
|
rs547079762
|
|
|
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
|
rs121918491
|
|
|
NM_000141.5(FGFR2):c.1084+3A>G
|
rs879253721
|
|
|
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)
|
rs121918497
|
|
|
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)
|
rs121918499
|
|
|
NM_000142.5(FGFR3):c.109G>A (p.Glu37Lys)
|
rs1553842213
|
|
|
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu)
|
rs28931615
|
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
|
NM_000143.4(FH):c.1098T>C (p.Ser366=)
|
rs2147916028
|
|
|
NM_000143.4(FH):c.1237-14_1237-9dup
|
rs779985493
|
|
|
NM_000143.4(FH):c.1237-50TC[15]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1237-50TC[16]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1237-50TC[22]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1237-50TC[26]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1389A>G (p.Ile463Met)
|
rs876659472
|
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
|
NM_000143.4(FH):c.168C>T (p.Thr56=)
|
rs574938106
|
|
|
NM_000143.4(FH):c.665C>T (p.Ser222Phe)
|
rs745606057
|
|
|
NM_000146.4(FTL):c.173dup (p.Lys59fs)
|
rs2122432022
|
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
|
NM_000152.5(GAA):c.1952G>T (p.Gly651Val)
|
rs939350425
|
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2647-20T>G
|
rs1555603208
|
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
|
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter)
|
rs1553690406
|
|
|
NM_000162.5(GCK):c.1003del (p.Val335fs)
|
rs193922254
|
|
|
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)
|
rs1064793134
|
|
|
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe)
|
rs587780343
|
|
|
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)
|
rs1131691505
|
|
|
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro)
|
rs749298368
|
|
|
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)
|
rs777870079
|
|
|
NM_000162.5(GCK):c.1165G>C (p.Val389Leu)
|
rs1350717554
|
|
|
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys)
|
rs1554334579
|
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
|
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp)
|
rs1554334546
|
|
|
NM_000162.5(GCK):c.1245del (p.His416fs)
|
rs2128819113
|
|
|
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)
|
rs267601516
|
|
|
NM_000162.5(GCK):c.1319A>G (p.Glu440Gly)
|
rs2128818815
|
|
|
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)
|
rs1286804191
|
|
|
NM_000162.5(GCK):c.1324G>T (p.Glu442Ter)
|
rs758737171
|
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
|
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)
|
rs1554334433
|
|
|
NM_000162.5(GCK):c.1367C>T (p.Ala456Val)
|
rs104894014
|
|
|
NM_000162.5(GCK):c.148C>T (p.His50Tyr)
|
rs1562719705
|
|
|
NM_000162.5(GCK):c.158C>T (p.Ala53Val)
|
rs2128823130
|
|
|
NM_000162.5(GCK):c.207A>G (p.Ser69=)
|
rs779548342
|
|
|
NM_000162.5(GCK):c.215G>A (p.Gly72Glu)
|
rs2128822720
|
|
|
NM_000162.5(GCK):c.295del (p.Trp99fs)
|
rs1554335752
|
|
|
NM_000162.5(GCK):c.317_333del (p.Gln106fs)
|
rs797045595
|
|
|
NM_000162.5(GCK):c.317del (p.Gln106fs)
|
rs2128822656
|
|
|
NM_000162.5(GCK):c.333C>G (p.Pro111=)
|
rs61736250
|
|
|
NM_000162.5(GCK):c.356C>A (p.Ala119Asp)
|
rs1176659689
|
|
|
NM_000162.5(GCK):c.364C>A (p.Leu122Ile)
|
rs1554335616
|
|
|
NM_000162.5(GCK):c.364C>G (p.Leu122Val)
|
rs1554335616
|
|
|
NM_000162.5(GCK):c.367T>C (p.Phe123Leu)
|
|
|
|
NM_000162.5(GCK):c.422A>C (p.His141Pro)
|
rs2128822078
|
|
|
NM_000162.5(GCK):c.423C>A (p.His141Gln)
|
rs1299283674
|
|
|
NM_000162.5(GCK):c.449T>A (p.Phe150Tyr)
|
rs193922297
|
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
|
NM_000162.5(GCK):c.477C>G (p.Ile159Met)
|
rs1554335567
|
|
|
NM_000162.5(GCK):c.511T>G (p.Phe171Val)
|
rs2128821636
|
|
|
NM_000162.5(GCK):c.523G>A (p.Gly175Arg)
|
rs587780344
|
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
|
NM_000162.5(GCK):c.562G>A (p.Ala188Thr)
|
rs751279776
|
|
|
NM_000162.5(GCK):c.606_607insACACCGT (p.Val203fs)
|
rs2128821515
|
|
|
NM_000162.5(GCK):c.608T>C (p.Val203Ala)
|
rs1562717053
|
|
|
NM_000162.5(GCK):c.616A>C (p.Thr206Pro)
|
rs587780346
|
|
|
NM_000162.5(GCK):c.617C>T (p.Thr206Met)
|
rs1441649062
|
|
|
NM_000162.5(GCK):c.623C>T (p.Ala208Val)
|
rs746913146
|
|
|
NM_000162.5(GCK):c.629T>C (p.Met210Thr)
|
rs80356654
|
|
|
NM_000162.5(GCK):c.632T>A (p.Ile211Asn)
|
rs1554335400
|
|
|
NM_000162.5(GCK):c.635_637del (p.Ser212del)
|
rs193922314
|
|
|
NM_000162.5(GCK):c.666del (p.Gly223fs)
|
rs2096278285
|
|
|
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)
|
rs1360415315
|
|
|
NM_000162.5(GCK):c.678_679+2del
|
rs1554335391
|
|
|
NM_000162.5(GCK):c.680-2A>G
|
rs1562715657
|
|
|
NM_000162.5(GCK):c.683C>T (p.Thr228Met)
|
rs80356655
|
|
|
NM_000162.5(GCK):c.706G>A (p.Glu236Lys)
|
rs587780347
|
|
|
NM_000162.5(GCK):c.749G>A (p.Arg250His)
|
rs370375148
|
|
|
NM_000162.5(GCK):c.76C>T (p.Gln26Ter)
|
rs193922329
|
|
|
NM_000162.5(GCK):c.775G>A (p.Ala259Thr)
|
rs1375656631
|
|
|
NM_000162.5(GCK):c.793G>A (p.Glu265Lys)
|
rs104894011
|
|
|
NM_000162.5(GCK):c.824G>T (p.Arg275Leu)
|
rs767565869
|
|
|
NM_000162.5(GCK):c.835G>A (p.Glu279Lys)
|
rs104894005
|
|
|
NM_000162.5(GCK):c.835G>C (p.Glu279Gln)
|
rs104894005
|
|
|
NM_000162.5(GCK):c.871A>G (p.Lys291Glu)
|
rs193922335
|
|
|
NM_000162.5(GCK):c.926T>C (p.Leu309Pro)
|
rs2128820009
|
|
|
NM_000162.5(GCK):c.941T>C (p.Leu314Pro)
|
rs1554334886
|
|
|
NM_000162.5(GCK):c.944T>A (p.Leu315His)
|
rs193922338
|
|
|
NM_000162.5(GCK):c.981C>G (p.Arg327=)
|
rs766907428
|
|
|
NM_000162.5(GCK):c.98T>A (p.Val33Glu)
|
rs1554335954
|
|
|
NM_000165.5(GJA1):c.119C>T (p.Ala40Val)
|
rs1554200992
|
|
|
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)
|
rs267606845
|
|
|
NM_000165.5(GJA1):c.450G>A (p.Gly150=)
|
rs752221637
|
|
|
NM_000165.5(GJA1):c.646G>T (p.Val216Leu)
|
rs1554201043
|
|
|
NM_000165.5(GJA1):c.717G>A (p.Arg239=)
|
rs57946868
|
|
|
NM_000168.6(GLI3):c.1207G>A (p.Val403Ile)
|
rs201070431
|
|
|
NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter)
|
rs772948115
|
|
|
NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser)
|
rs202182779
|
|
|
NM_000168.6(GLI3):c.3098C>A (p.Pro1033Gln)
|
rs376956433
|
|
|
NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly)
|
rs1554304659
|
|
|
NM_000168.6(GLI3):c.3695A>C (p.His1232Pro)
|
rs780924905
|
|
|
NM_000168.6(GLI3):c.3970G>C (p.Ala1324Pro)
|
rs1480007692
|
|
|
NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1])
|
rs869060239
|
|
|
NM_000173.7(GP1BA):c.1305C>T (p.Thr435=)
|
rs761456793
|
|
|
NM_000173.7(GP1BA):c.1305_1320del (p.Thr436fs)
|
rs758041497
|
|
|
NM_000173.7(GP1BA):c.1305_1344delinsT (p.415SEPAPSPTTPEPT[2])
|
rs2151108385
|
|
|
NM_000173.7(GP1BA):c.1311_1349del (p.415_427SEPAPSPTTPEPT[2])
|
rs770991996
|
|
|
NM_000173.7(GP1BA):c.1321_1359del (p.415_427SEPAPSPTTPEPT[2])
|
rs1259394995
|
|
|
NM_000173.7(GP1BA):c.316C>G (p.Gln106Glu)
|
rs1970363834
|
|
|
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser)
|
rs1394634674
|
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
|
NM_000179.3(MSH6):c.1181C>G (p.Ser394Cys)
|
rs1410933611
|
|
|
NM_000179.3(MSH6):c.1787T>A (p.Phe596Tyr)
|
rs1064793774
|
|
|
NM_000179.3(MSH6):c.1793A>G (p.Lys598Arg)
|
rs587779919
|
|
|
NM_000179.3(MSH6):c.1842del (p.Cys615fs)
|
rs730881825
|
|
|
NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe)
|
rs730881793
|
|
|
NM_000179.3(MSH6):c.1871del (p.Gly624fs)
|
rs777159874
|
|
|
NM_000179.3(MSH6):c.1914T>G (p.Leu638=)
|
rs766310490
|
|
|
NM_000179.3(MSH6):c.19C>A (p.Leu7Met)
|
rs1064795094
|
|
|
NM_000179.3(MSH6):c.2129T>A (p.Ile710Asn)
|
rs750817344
|
|
|
NM_000179.3(MSH6):c.216C>G (p.Leu72=)
|
rs963404377
|
|
|
NM_000179.3(MSH6):c.2183A>C (p.Lys728Thr)
|
rs35552856
|
|
|
NM_000179.3(MSH6):c.255C>A (p.Pro85=)
|
rs587779242
|
|
|
NM_000179.3(MSH6):c.2671A>T (p.Ile891Phe)
|
rs756933423
|
|
|
NM_000179.3(MSH6):c.2801A>G (p.Asp934Gly)
|
rs2104424734
|
|
|
NM_000179.3(MSH6):c.2986T>C (p.Leu996=)
|
rs876658605
|
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
|
NM_000179.3(MSH6):c.3418A>C (p.Lys1140Gln)
|
rs2104485766
|
|
|
NM_000179.3(MSH6):c.3548T>A (p.Ile1183Lys)
|
rs1459635476
|
|
|
NM_000179.3(MSH6):c.3762_3763delinsTT (p.Glu1254_Asp1255delinsAspTyr)
|
rs878853738
|
|
|
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)
|
rs41294988
|
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4068G>A (p.Leu1356=)
|
rs192740549
|
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
|
NM_000179.3(MSH6):c.576A>G (p.Glu192=)
|
rs2104237282
|
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
|
NM_000193.4(SHH):c.1030_1050dup (p.Ala344_Ala350dup)
|
rs1554493741
|
|
|
NM_000194.3(HPRT1):c.77A>C (p.Asn26Thr)
|
rs762739119
|
|
|
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs)
|
rs758028806
|
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
|
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)
|
rs147748659
|
|
|
NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg)
|
rs372351461
|
|
|
NM_000195.5(HPS1):c.1744-5C>T
|
rs369429846
|
|
|
NM_000195.5(HPS1):c.2009T>C (p.Leu670Pro)
|
rs2136078570
|
|
|
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)
|
rs773323079
|
|
|
NM_000195.5(HPS1):c.655G>T (p.Ala219Ser)
|
rs755619001
|
|
|
NM_000195.5(HPS1):c.848G>C (p.Gly283Ala)
|
rs74154475
|
|
|
NM_000195.5(HPS1):c.972del (p.Met325fs)
|
rs281865082
|
|
|
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)
|
rs750909242
|
|
|
NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr)
|
rs780178733
|
|
|
NM_000197.2(HSD17B3):c.490-6T>C
|
rs1230867519
|
|
|
NM_000204.5(CFI):c.1032G>A (p.Lys344=)
|
rs2126191474
|
|
|
NM_000207.2(INS):c.-146A>C
|
rs2133678050
|
|
|
NM_000207.2(INS):c.-147del
|
rs563630291
|
|
|
NM_000207.2(INS):c.-152C>A
|
rs748749585
|
|
|
NM_000207.2(INS):c.-379_-372dup
|
rs1329632206
|
|
|
NM_000207.2(INS):c.-439G>A
|
rs1845901615
|
|
|
NM_000207.2(INS):c.-463_-451del
|
rs1564913081
|
|
|
NM_000207.2(INS):c.-485_-430del
|
rs1564913027
|
|
|
NM_000207.2(INS):c.-88A>G
|
rs2133677909
|
|
|
NM_000207.3(INS):c.-152C>G
|
rs748749585
|
|
|
NM_000207.3(INS):c.-17-70G>A
|
rs1554920985
|
|
|
NM_000207.3(INS):c.-17-74T>C
|
rs9282755
|
|
|
NM_000207.3(INS):c.-18+21C>T
|
rs568856178
|
|
|
NM_000207.3(INS):c.-18+62C>T
|
rs1166335966
|
|
|
NM_000207.3(INS):c.103C>G (p.Leu35Val)
|
rs1278232284
|
|
|
NM_000207.3(INS):c.153A>G (p.Thr51=)
|
rs773789432
|
|
|
NM_000207.3(INS):c.163C>T (p.Arg55Cys)
|
rs121908261
|
|
|
NM_000207.3(INS):c.187+271A>G
|
rs1845862881
|
|
|
NM_000207.3(INS):c.187+391C>T
|
|
|
|
NM_000207.3(INS):c.188-31G>A
|
rs797045623
|
|
|
NM_000207.3(INS):c.188-97C>T
|
rs746839746
|
|
|
NM_000207.3(INS):c.265C>T (p.Arg89Cys)
|
rs80356669
|
|
|
NM_000207.3(INS):c.289A>C (p.Thr97Pro)
|
rs2133672927
|
|
|
NM_000207.3(INS):c.292A>T (p.Ser98Cys)
|
rs1252051752
|
|
|
NM_000207.3(INS):c.299G>A (p.Cys100Tyr)
|
|
|
|
NM_000207.3(INS):c.308A>G (p.Tyr103Cys)
|
rs121908277
|
|
|
NM_000207.3(INS):c.320ACT[1] (p.Tyr108del)
|
rs1554920552
|
|
|
NM_000207.3(INS):c.71C>A (p.Ala24Asp)
|
rs80356663
|
|
|
NM_000207.3(INS):c.71C>T (p.Ala24Val)
|
rs80356663
|
|
|
NM_000207.3(INS):c.94G>A (p.Gly32Ser)
|
rs80356664
|
|
|
NM_000207.3(INS):c.95G>T (p.Gly32Val)
|
rs2133676747
|
|
|
NM_000208.4(INSR):c.1001C>T (p.Pro334Leu)
|
rs373995681
|
|
|
NM_000208.4(INSR):c.1179G>T (p.Gly393=)
|
rs140573575
|
|
|
NM_000208.4(INSR):c.14del (p.Gly5fs)
|
rs1419070784
|
|
|
NM_000208.4(INSR):c.1907C>T (p.Ser636Phe)
|
rs1168145595
|
|
|
NM_000208.4(INSR):c.3164C>T (p.Ala1055Val)
|
rs1599874183
|
|
|
NM_000208.4(INSR):c.3234G>A (p.Met1078Ile)
|
rs2144813778
|
|
|
NM_000208.4(INSR):c.3261G>A (p.Val1087=)
|
rs2144806014
|
|
|
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)
|
rs775854644
|
|
|
NM_000208.4(INSR):c.3454G>C (p.Ala1152Pro)
|
rs777183063
|
|
|
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)
|
rs121913156
|
|
|
NM_000208.4(INSR):c.3802_3804del (p.Leu1268del)
|
rs2144790591
|
|
|
NM_000208.4(INSR):c.3957G>C (p.Met1319Ile)
|
rs199599404
|
|
|
NM_000208.4(INSR):c.39delinsCCTGCTGGTGGCGGTGGCCGCGCCC (p.Pro13_Ala20dup)
|
rs2145264985
|
|
|
NM_000208.4(INSR):c.489C>A (p.Ile163=)
|
rs530955658
|
|
|
NM_000208.4(INSR):c.653-23TC[11]
|
rs3835070
|
|
|
NM_000208.4(INSR):c.653-23TC[12]
|
rs3835070
|
|
|
NM_000208.4(INSR):c.653-23TC[13]
|
rs3835070
|
|
|
NM_000208.4(INSR):c.653-23TC[14]
|
rs3835070
|
|
|
NM_000208.4(INSR):c.653-23TC[15]
|
rs3835070
|
|
|
NM_000208.4(INSR):c.653-23TC[8]
|
rs3835070
|
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
|
NM_000208.4(INSR):c.653-5_653-4insTC
|
rs1555746859
|
|
|
NM_000208.4(INSR):c.653-7_653-6insTC
|
rs1555746860
|
|
|
NM_000208.4(INSR):c.784G>A (p.Gly262Ser)
|
rs141484557
|
|
|
NM_000208.4(INSR):c.851G>A (p.Ser284Asn)
|
rs2144988797
|
|
|
NM_000209.4(PDX1):c.101C>T (p.Ala34Val)
|
rs750219172
|
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
|
NM_000209.4(PDX1):c.285G>A (p.Pro95=)
|
rs797045885
|
|
|
NM_000209.4(PDX1):c.349C>A (p.Leu117Met)
|
rs573752557
|
|
|
NM_000209.4(PDX1):c.502A>C (p.Asn168His)
|
rs1555241857
|
|
|
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly)
|
rs387906777
|
|
|
NM_000209.4(PDX1):c.620A>G (p.Lys207Arg)
|
rs2137506266
|
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
|
NM_000212.3(ITGB3):c.1976G>C (p.Arg659Pro)
|
rs377302275
|
|
|
NM_000212.3(ITGB3):c.2225A>C (p.Lys742Thr)
|
rs2143150631
|
|
|
NM_000212.3(ITGB3):c.555G>T (p.Lys185Asn)
|
rs2143093011
|
|
|
NM_000214.3(JAG1):c.1349-8dup
|
rs767319365
|
|
|
NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter)
|
rs1555904591
|
|
|
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)
|
rs397508109
|
|
|
NM_000222.3(KIT):c.1204G>A (p.Ala402Thr)
|
rs2109714391
|
|
|
NM_000232.5(SGCB):c.-4G>T
|
rs1553940969
|
|
|
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn)
|
rs140691492
|
|
|
NM_000233.4(LHCGR):c.35_36insCA (p.Lys12fs)
|
rs2103767948
|
|
|
NM_000239.3(LYZ):c.209C>G (p.Thr70Ser)
|
rs1349579951
|
|
|
NM_000240.4(MAOA):c.1447_1448delinsAA (p.Ala483Lys)
|
rs1555951370
|
|
|
NM_000240.4(MAOA):c.555G>C (p.Glu185Asp)
|
rs2147101580
|
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
|
NM_000245.4(MET):c.799G>A (p.Glu267Lys)
|
rs755954919
|
|
|
NM_000249.4(MLH1):c.1016C>T (p.Ser339Phe)
|
rs2125854561
|
|
|
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del)
|
rs876660192
|
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
|
NM_000249.4(MLH1):c.1486C>T (p.Pro496Ser)
|
rs2083708398
|
|
|
NM_000249.4(MLH1):c.1489C>G (p.Arg497Gly)
|
rs200830026
|
|
|
NM_000249.4(MLH1):c.1559-11T>C
|
rs730881750
|
|
|
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)
|
rs63750486
|
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
|
NM_000249.4(MLH1):c.2084C>T (p.Ser695Leu)
|
rs63749995
|
|
|
NM_000249.4(MLH1):c.2110G>A (p.Val704Met)
|
rs587781811
|
|
|
NM_000249.4(MLH1):c.2191C>T (p.Pro731Ser)
|
rs876661188
|
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
|
NM_000249.4(MLH1):c.36C>G (p.Asp12Glu)
|
rs587782181
|
|
|
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)
|
rs587779008
|
|
|
NM_000249.4(MLH1):c.424T>C (p.Cys142Arg)
|
rs780232692
|
|
|
NM_000249.4(MLH1):c.46G>C (p.Val16Leu)
|
rs776643257
|
|
|
NM_000249.4(MLH1):c.489A>G (p.Arg163=)
|
rs2125784050
|
|
|
NM_000249.4(MLH1):c.59C>T (p.Ala20Val)
|
rs1391455682
|
|
|
NM_000249.4(MLH1):c.884+9G>C
|
rs1559539862
|
|
|
NM_000251.2(MSH2):c.-106G>C
|
rs786202882
|
|
|
NM_000251.2(MSH2):c.-81A>T
|
rs542893403
|
|
|
NM_000251.3(MSH2):c.1352A>G (p.Gln451Arg)
|
rs878853801
|
|
|
NM_000251.3(MSH2):c.15G>T (p.Pro5=)
|
rs758054171
|
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
|
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)
|
rs201118107
|
|
|
NM_000251.3(MSH2):c.1828C>T (p.His610Tyr)
|
rs267607980
|
|
|
NM_000251.3(MSH2):c.2046T>A (p.Thr682=)
|
rs2104370344
|
|
|
NM_000251.3(MSH2):c.2104G>T (p.Val702Leu)
|
|
|
|
NM_000251.3(MSH2):c.2210+11_2210+22del
|
rs730881782
|
|
|
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)
|
rs587782891
|
|
|
NM_000251.3(MSH2):c.2458+10A>G
|
rs1269379998
|
|
|
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly)
|
rs63750797
|
|
|
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)
|
rs587779150
|
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
|
NM_000251.3(MSH2):c.2616G>A (p.Lys872=)
|
rs1573579171
|
|
|
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)
|
rs587779970
|
|
|
NM_000251.3(MSH2):c.571C>T (p.Leu191Phe)
|
rs1553350898
|
|
|
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)
|
rs139891783
|
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
|
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)
|
rs63751107
|
|
|
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs)
|
rs797045711
|
|
|
NM_000252.3(MTM1):c.1015dup (p.Ser339fs)
|
rs797045709
|
|
|
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg)
|
rs587783750
|
|
|
NM_000252.3(MTM1):c.1053+1G>C
|
rs587783751
|
|
|
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)
|
rs587783752
|
|
|
NM_000252.3(MTM1):c.1089dup (p.Val364fs)
|
rs587783752
|
|
|
NM_000252.3(MTM1):c.1109C>G (p.Ser370Ter)
|
rs1557414505
|
|
|
NM_000252.3(MTM1):c.1120C>G (p.His374Asp)
|
rs587783754
|
|
|
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)
|
rs587783755
|
|
|
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter)
|
rs587783756
|
|
|
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter)
|
rs587783757
|
|
|
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val)
|
rs587783758
|
|
|
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr)
|
rs587783759
|
|
|
NM_000252.3(MTM1):c.1178dup (p.Leu393fs)
|
rs1557414513
|
|
|
NM_000252.3(MTM1):c.1180G>C (p.Asp394His)
|
rs587783760
|
|
|
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter)
|
rs587783761
|
|
|
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala)
|
rs587783762
|
|
|
NM_000252.3(MTM1):c.1228G>C (p.Glu410Gln)
|
rs17852824
|
|
|
NM_000252.3(MTM1):c.1228G>T (p.Glu410Ter)
|
rs17852824
|
|
|
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter)
|
rs587783763
|
|
|
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys)
|
rs587783764
|
|
|
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val)
|
rs587783765
|
|
|
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)
|
rs587783766
|
|
|
NM_000252.3(MTM1):c.1254T>C (p.Phe418=)
|
rs587783767
|
|
|
NM_000252.3(MTM1):c.1260+1G>A
|
rs587783768
|
|
|
NM_000252.3(MTM1):c.1260+5G>A
|
rs587783769
|
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
|
NM_000252.3(MTM1):c.1261-1G>C
|
rs587783770
|
|
|
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
|
|
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu)
|
rs587783772
|
|
|
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs)
|
rs587783773
|
|
|
NM_000252.3(MTM1):c.1283del (p.Asn428fs)
|
rs797045712
|
|
|
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn)
|
rs886044782
|
|
|
NM_000252.3(MTM1):c.1297G>A (p.Asp433Asn)
|
rs886044783
|
|
|
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)
|
rs797045713
|
|
|
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu)
|
rs587783774
|
|
|
NM_000252.3(MTM1):c.1307del (p.Pro436fs)
|
rs587783775
|
|
|
NM_000252.3(MTM1):c.130dup (p.Ile44fs)
|
rs797045714
|
|
|
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn)
|
rs587783776
|
|
|
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala)
|
rs587783777
|
|
|
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter)
|
rs587783778
|
|
|
NM_000252.3(MTM1):c.1349_1353+4del
|
rs797045715
|
|
|
NM_000252.3(MTM1):c.1353+1G>A
|
rs587783779
|
|
|
NM_000252.3(MTM1):c.1353+2T>C
|
rs587783780
|
|
|
NM_000252.3(MTM1):c.1353G>A (p.Gln451=)
|
rs587783781
|
|
|
NM_000252.3(MTM1):c.1354-1G>A
|
rs587783782
|
|
|
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)
|
rs587783783
|
|
|
NM_000252.3(MTM1):c.137-11dup
|
rs797045716
|
|
|
NM_000252.3(MTM1):c.137-7T>G
|
rs587783784
|
|
|
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile)
|
rs587783785
|
|
|
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter)
|
rs587783786
|
|
|
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser)
|
rs587783787
|
|
|
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp)
|
rs587783787
|
|
|
NM_000252.3(MTM1):c.139_141del (p.Lys47del)
|
rs587783788
|
|
|
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)
|
rs587783789
|
|
|
NM_000252.3(MTM1):c.141A>G (p.Lys47=)
|
rs587783790
|
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
|
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)
|
rs587783792
|
|
|
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val)
|
rs587783793
|
|
|
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser)
|
rs587783794
|
|
|
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter)
|
rs587783795
|
|
|
NM_000252.3(MTM1):c.145G>A (p.Val49Ile)
|
rs587783796
|
|
|
NM_000252.3(MTM1):c.145G>T (p.Val49Phe)
|
rs587783796
|
|
|
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs)
|
rs587783797
|
|
|
NM_000252.3(MTM1):c.1467+1G>A
|
rs587783798
|
|
|
NM_000252.3(MTM1):c.1467+1G>T
|
rs587783798
|
|
|
NM_000252.3(MTM1):c.1467+2T>A
|
rs587783799
|
|
|
NM_000252.3(MTM1):c.1490C>A (p.Ser497Tyr)
|
rs587783800
|
|
|
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg)
|
rs587783801
|
|
|
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys)
|
rs1557414802
|
|
|
NM_000252.3(MTM1):c.1509del (p.Asn503fs)
|
rs587783802
|
|
|
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle)
|
rs398123271
|
|
|
NM_000252.3(MTM1):c.153_156del (p.Ile52fs)
|
rs587783803
|
|
|
NM_000252.3(MTM1):c.154del (p.Ile52fs)
|
rs587783804
|
|
|
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter)
|
rs587783805
|
|
|
NM_000252.3(MTM1):c.1792del (p.His598fs)
|
rs34119065
|
|
|
NM_000252.3(MTM1):c.197C>T (p.Thr66Ile)
|
rs2148434107
|
|
|
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly)
|
rs132630304
|
|
|
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
|
rs132630304
|
|
|
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe)
|
rs587783809
|
|
|
NM_000252.3(MTM1):c.231+1G>A
|
rs587783810
|
|
|
NM_000252.3(MTM1):c.231+2T>G
|
rs587783811
|
|
|
NM_000252.3(MTM1):c.232-16T>G
|
rs2148455901
|
|
|
NM_000252.3(MTM1):c.232-1G>A
|
rs587783812
|
|
|
NM_000252.3(MTM1):c.232-2A>C
|
rs587783813
|
|
|
NM_000252.3(MTM1):c.232-3C>A
|
rs587783814
|
|
|
NM_000252.3(MTM1):c.252del (p.Asp84fs)
|
rs587783815
|
|
|
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro)
|
rs587783816
|
|
|
NM_000252.3(MTM1):c.2T>G (p.Met1Arg)
|
rs587783817
|
|
|
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)
|
rs587783818
|
|
|
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter)
|
rs587783819
|
|
|
NM_000252.3(MTM1):c.342+1G>A
|
rs1557413092
|
|
|
NM_000252.3(MTM1):c.342+4A>G
|
rs587783820
|
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
|
NM_000252.3(MTM1):c.343-2A>G
|
rs587783821
|
|
|
NM_000252.3(MTM1):c.397_398del (p.Met133fs)
|
rs587783822
|
|
|
NM_000252.3(MTM1):c.3G>A (p.Met1Ile)
|
rs587783823
|
|
|
NM_000252.3(MTM1):c.402del (p.Phe134fs)
|
rs587783824
|
|
|
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter)
|
rs797045718
|
|
|
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter)
|
rs587783825
|
|
|
NM_000252.3(MTM1):c.431del (p.Leu144fs)
|
rs587783826
|
|
|
NM_000252.3(MTM1):c.465del (p.Asn155fs)
|
rs1557413783
|
|
|
NM_000252.3(MTM1):c.469del (p.Glu157fs)
|
rs587783827
|
|
|
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter)
|
rs587783828
|
|
|
NM_000252.3(MTM1):c.526C>A (p.Gln176Lys)
|
rs587783829
|
|
|
NM_000252.3(MTM1):c.528+1G>T
|
rs587783830
|
|
|
NM_000252.3(MTM1):c.529-2A>G
|
rs587783831
|
|
|
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser)
|
rs587783832
|
|
|
NM_000252.3(MTM1):c.539_545del (p.Asn180fs)
|
rs587783833
|
|
|
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter)
|
rs587783834
|
|
|
NM_000252.3(MTM1):c.549dup (p.Arg184fs)
|
rs797045719
|
|
|
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly)
|
rs587783835
|
|
|
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile)
|
rs587783836
|
|
|
NM_000252.3(MTM1):c.561T>C (p.Phe187=)
|
rs587783837
|
|
|
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)
|
rs132630302
|
|
|
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)
|
rs587783838
|
|
|
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)
|
rs587783839
|
|
|
NM_000252.3(MTM1):c.611T>G (p.Val204Gly)
|
rs587783840
|
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
|
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)
|
rs587783842
|
|
|
NM_000252.3(MTM1):c.63+1G>A
|
rs587783843
|
|
|
NM_000252.3(MTM1):c.63+3A>T
|
rs587783844
|
|
|
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe)
|
rs587783845
|
|
|
NM_000252.3(MTM1):c.64-1G>A
|
rs587783846
|
|
|
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)
|
rs587783847
|
|
|
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)
|
rs132630306
|
|
|
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)
|
rs587783848
|
|
|
NM_000252.3(MTM1):c.678+1G>A
|
rs587783849
|
|
|
NM_000252.3(MTM1):c.679G>A (p.Val227Met)
|
rs587783850
|
|
|
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro)
|
rs587783851
|
|
|
NM_000252.3(MTM1):c.684G>C (p.Leu228=)
|
rs587783852
|
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
|
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)
|
rs398123275
|
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
|
NM_000252.3(MTM1):c.743G>T (p.Gly248Val)
|
rs587783853
|
|
|
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)
|
rs587783854
|
|
|
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser)
|
rs587783855
|
|
|
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser)
|
rs587783856
|
|
|
NM_000252.3(MTM1):c.808_811del (p.Gln270fs)
|
rs797045720
|
|
|
NM_000252.3(MTM1):c.814del (p.Ser272fs)
|
rs1603192748
|
|
|
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter)
|
rs587783857
|
|
|
NM_000252.3(MTM1):c.867+1G>A
|
rs587783858
|
|
|
NM_000252.3(MTM1):c.867_867+1dup
|
rs797045721
|
|
|
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer)
|
rs587783859
|
|
|
NM_000252.3(MTM1):c.912del (p.Glu305fs)
|
rs587783860
|
|
|
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys)
|
rs587783861
|
|
|
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del)
|
rs587783862
|
|
|
NM_000252.3(MTM1):c.949dup (p.Met317fs)
|
rs797045722
|
|
|
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro)
|
rs587783863
|
|
|
NM_000252.3(MTM1):c.961_962del (p.Leu321fs)
|
rs587783864
|
|
|
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)
|
rs587783865
|
|
|
NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|
|
NM_000252.3(MTM1):c.96dup (p.Glu33Ter)
|
rs797045724
|
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
|
NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro)
|
rs797045730
|
|
|
NM_000257.4(MYH7):c.4954-15_4958del
|
rs2138640908
|
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
|
NM_000264.5(PTCH1):c.-24GGC[3]
|
rs71366293
|
|
|
NM_000264.5(PTCH1):c.-24GGC[5]
|
rs71366293
|
|
|
NM_000264.5(PTCH1):c.-24GGC[6]
|
rs71366293
|
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
|
NM_000264.5(PTCH1):c.1889A>C (p.Tyr630Ser)
|
rs1840320961
|
|
|
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
|
|
|
|
NM_000264.5(PTCH1):c.28C>T (p.Pro10Ser)
|
rs1587701162
|
|
|
NM_000264.5(PTCH1):c.3730C>T (p.Gln1244Ter)
|
rs2136598174
|
|
|
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)
|
rs1368334005
|
|
|
NM_000264.5(PTCH1):c.4179C>T (p.Pro1393=)
|
rs1057521043
|
|
|
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp)
|
rs1556003698
|
|
|
NM_000270.4(PNP):c.331del (p.Leu111fs)
|
|
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
|
NM_000273.3(GPR143):c.162C>T (p.Pro54=)
|
rs1175455167
|
|
|
NM_000273.3(GPR143):c.256_257delinsA (p.Val86fs)
|
rs2146701042
|
|
|
NM_000273.3(GPR143):c.583T>C (p.Tyr195His)
|
rs1555914719
|
|
|
NM_000273.3(GPR143):c.682C>T (p.Gln228Ter)
|
rs2083414866
|
|
|
NM_000273.3(GPR143):c.886-2A>T
|
rs2146684328
|
|
|
NM_000275.2(OCA2):c.647-?_807+?del
|
|
|
|
NM_000275.2(OCA2):c.647-?_890+?del
|
|
|
|
NM_000275.3(OCA2):c.121_128del (p.Gly41fs)
|
rs1555392037
|
|
|
NM_000275.3(OCA2):c.122del (p.Gly41fs)
|
rs1407174563
|
|
|
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)
|
rs747214535
|
|
|
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)
|
rs779850564
|
|
|
NM_000275.3(OCA2):c.171del (p.Gln58fs)
|
rs1555391997
|
|
|
NM_000275.3(OCA2):c.1808del (p.Asn603fs)
|
rs1476192724
|
|
|
NM_000275.3(OCA2):c.1843-9_1843-6del
|
rs2140620111
|
|
|
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val)
|
rs797045838
|
|
|
NM_000275.3(OCA2):c.2080-1G>A
|
rs1555422232
|
|
|
NM_000275.3(OCA2):c.2208G>T (p.Ser736=)
|
rs1800418
|
|
|
NM_000275.3(OCA2):c.2245-6C>G
|
rs368772032
|
|
|
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)
|
rs987780496
|
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
|
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
|
rs797044784
|
|
|
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
|
|
|
|
NM_000276.4(OCRL):c.124A>G (p.Ile42Val)
|
rs797045842
|
|
|
NM_000276.4(OCRL):c.2256+3A>G
|
rs875989776
|
|
|
NM_000276.4(OCRL):c.2581+8T>C
|
rs2124430535
|
|
|
NM_000276.4(OCRL):c.304G>A (p.Glu102Lys)
|
rs797045843
|
|
|
NM_000276.4(OCRL):c.426_427delinsAC (p.Ser143Pro)
|
rs797045844
|
|
|
NM_000276.4(OCRL):c.471T>G (p.Ser157=)
|
rs747396791
|
|
|
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)
|
rs762505127
|
|
|
NM_000286.3(PEX12):c.910_911del (p.Cys304fs)
|
rs867245161
|
|
|
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter)
|
rs1554331461
|
|
|
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer)
|
rs1554333636
|
|
|
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)
|
rs1554333880
|
|
|
NM_000297.4(PKD2):c.1320-3C>A
|
rs2110115733
|
|
|
NM_000297.4(PKD2):c.1899-2A>T
|
|
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
|
NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
|
|
NM_000303.3(PMM2):c.526G>A (p.Gly176Ser)
|
rs1156500366
|
|
|
NM_000303.3(PMM2):c.716G>A (p.Arg239Lys)
|
rs958388439
|
|
|
NM_000308.3(CTSA):c.85_110del26ins23
|
|
|
|
NM_000310.4(PPT1):c.627+4A>G
|
rs572153728
|
|
|
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu)
|
rs74315401
|
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
|
NM_000314.7(PTEN):c.-933G>A
|
rs786203419
|
|
|
NM_000314.8(PTEN):c.-462G>A
|
rs886047388
|
|
|
NM_000314.8(PTEN):c.-668C>A
|
rs786204948
|
|
|
NM_000314.8(PTEN):c.-735G>A
|
rs886047384
|
|
|
NM_000314.8(PTEN):c.1016del (p.Pro339fs)
|
rs1554825643
|
|
|
NM_000314.8(PTEN):c.1026+1G>A
|
rs786201041
|
|
|
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp)
|
rs587782345
|
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
|
NM_000314.8(PTEN):c.226_228del (p.Tyr76del)
|
rs1554897864
|
|
|
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)
|
rs1554898127
|
|
|
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser)
|
rs1859977029
|
|
|
NM_000314.8(PTEN):c.410C>G (p.Ala137Gly)
|
|
|
|
NM_000314.8(PTEN):c.46T>C (p.Tyr16His)
|
rs1064796078
|
|
|
NM_000314.8(PTEN):c.634+5G>T
|
rs138336847
|
|
|
NM_000314.8(PTEN):c.764T>A (p.Val255Glu)
|
rs1564566998
|
|
|
NM_000314.8(PTEN):c.900del (p.Ile300fs)
|
rs797045904
|
|
|
NM_000315.4(PTH):c.46_47delinsAA (p.Ala16Lys)
|
rs2134093283
|
|
|
NM_000320.3(QDPR):c.447del (p.Tyr150fs)
|
rs2108987721
|
|
|
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys)
|
rs367578442
|
|
|
NM_000330.4(RS1):c.185-3100G>T
|
rs587783403
|
|
|
NM_000330.4(RS1):c.185-3281C>G
|
rs148531754
|
|
|
NM_000334.4(SCN4A):c.1553G>A (p.Gly518Glu)
|
rs778649637
|
|
|
NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del)
|
rs781515976
|
|
|
NM_000340.2(SLC2A2):c.496+7_496+8insCTCA
|
rs746295534
|
|
|
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His)
|
rs121912744
|
|
|
NM_000346.4(SOX9):c.602A>G (p.Asn201Ser)
|
|
|
|
NM_000348.4(SRD5A2):c.21G>A (p.Gln7=)
|
rs2148107447
|
|
|
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His)
|
rs201175894
|
|
|
NM_000348.4(SRD5A2):c.282-2A>G
|
rs1340425455
|
|
|
NM_000348.4(SRD5A2):c.651A>G (p.Ala217=)
|
rs765256238
|
|
|
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)
|
rs121434249
|
|
|
NM_000348.4(SRD5A2):c.703T>C (p.Tyr235His)
|
|
|
|
NM_000349.3(STAR):c.120G>A (p.Leu40=)
|
rs138786388
|
|
|
NM_000352.3(ABCC8):c.-111delG
|
rs1409923989
|
|
|
NM_000352.3(ABCC8):c.-71A>T
|
rs2133739075
|
|
|
NM_000352.3:c.85_1011+8del
|
|
|
|
NM_000352.4(ABCC8):c.-385G>A
|
rs1052653345
|
|
|
NM_000352.4(ABCC8):c.-516C>G
|
rs1361833406
|
|
|
NM_000352.4(ABCC8):c.-545A>G
|
rs2133740783
|
|
|
NM_000352.6(ABCC8):c.*7A>C
|
rs760439027
|
|
|
NM_000352.6(ABCC8):c.1011+1G>T
|
rs2133673996
|
|
|
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)
|
rs1554949242
|
|
|
NM_000352.6(ABCC8):c.122T>C (p.Phe41Ser)
|
|
|
|
NM_000352.6(ABCC8):c.1235T>A (p.Met412Lys)
|
rs2133617327
|
|
|
NM_000352.6(ABCC8):c.1291T>C (p.Phe431Leu)
|
rs1956630610
|
|
|
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)
|
rs1554933565
|
|
|
NM_000352.6(ABCC8):c.1596C>G (p.Ser532Arg)
|
rs761871453
|
|
|
NM_000352.6(ABCC8):c.1687G>A (p.Val563Ile)
|
rs1554926621
|
|
|
NM_000352.6(ABCC8):c.1752del (p.His584fs)
|
rs1554926539
|
|
|
NM_000352.6(ABCC8):c.1773C>G (p.Phe591Leu)
|
rs72559726
|
|
|
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)
|
|
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
|
NM_000352.6(ABCC8):c.2116+1G>T
|
rs1554924540
|
|
|
NM_000352.6(ABCC8):c.2117-1G>A
|
rs797045207
|
|
|
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)
|
rs1554924142
|
|
|
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs)
|
rs1554917411
|
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
|
NM_000352.6(ABCC8):c.2414G>A (p.Cys805Tyr)
|
rs1401468345
|
|
|
NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp)
|
rs779736828
|
|
|
NM_000352.6(ABCC8):c.2566T>C (p.Phe856Leu)
|
rs2133461549
|
|
|
NM_000352.6(ABCC8):c.2797C>G (p.Arg933Gly)
|
rs570388861
|
|
|
NM_000352.6(ABCC8):c.2825C>G (p.Thr942Ser)
|
rs1224638633
|
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
|
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro)
|
rs761960758
|
|
|
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)
|
rs201499958
|
|
|
NM_000352.6(ABCC8):c.3013T>A (p.Ser1005Thr)
|
|
|
|
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn)
|
rs1225850029
|
|
|
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)
|
rs1352191146
|
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
|
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
|
|
|
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
|
rs193922400
|
|
|
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu)
|
rs1554909277
|
|
|
NM_000352.6(ABCC8):c.362T>C (p.Val121Ala)
|
rs2133711122
|
|
|
NM_000352.6(ABCC8):c.3755A>G (p.Glu1252Gly)
|
rs797045210
|
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
|
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)
|
rs1554905662
|
|
|
NM_000352.6(ABCC8):c.4119+1G>A
|
rs797045211
|
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
|
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser)
|
rs925231098
|
|
|
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)
|
rs137852673
|
|
|
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)
|
rs193922401
|
|
|
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)
|
rs2133402479
|
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
|
NM_000352.6(ABCC8):c.4174T>G (p.Phe1392Val)
|
rs587783171
|
|
|
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)
|
rs1554904936
|
|
|
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)
|
rs1554904904
|
|
|
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)
|
rs387906407
|
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
|
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
|
NM_000352.6(ABCC8):c.4438A>C (p.Asn1480His)
|
rs1591705863
|
|
|
NM_000352.6(ABCC8):c.4438A>T (p.Asn1480Tyr)
|
rs1591705863
|
|
|
NM_000352.6(ABCC8):c.4444A>C (p.Ser1482Arg)
|
rs2133395244
|
|
|
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)
|
rs1554904107
|
|
|
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg)
|
rs1554904102
|
|
|
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val)
|
rs193922405
|
|
|
NM_000352.6(ABCC8):c.4469G>A (p.Cys1490Tyr)
|
rs1180424930
|
|
|
NM_000352.6(ABCC8):c.4513G>A (p.Asp1505Asn)
|
rs2133394860
|
|
|
NM_000352.6(ABCC8):c.4515C>G (p.Asp1505Glu)
|
rs751591418
|
|
|
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)
|
rs137852671
|
|
|
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup)
|
rs797045212
|
|
|
NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly)
|
rs2133393241
|
|
|
NM_000352.6(ABCC8):c.4591A>G (p.Thr1531Ala)
|
rs796891223
|
|
|
NM_000352.6(ABCC8):c.4608+1G>A
|
rs2133392952
|
|
|
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)
|
rs1564869850
|
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
|
NM_000352.6(ABCC8):c.46C>T (p.Arg16Trp)
|
rs1591935006
|
|
|
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)
|
rs764950519
|
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
|
NM_000352.6(ABCC8):c.622G>A (p.Glu208Lys)
|
rs2133680513
|
|
|
NM_000352.6(ABCC8):c.625G>A (p.Asp209Asn)
|
rs2133680501
|
|
|
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
|
NM_000352.6(ABCC8):c.806C>T (p.Ala269Val)
|
rs372930264
|
|
|
NM_000352.6(ABCC8):c.878A>C (p.His293Pro)
|
rs587783175
|
|
|
NM_000352.6(ABCC8):c.899T>C (p.Val300Ala)
|
rs2133674861
|
|
|
NM_000352.6(ABCC8):c.947G>A (p.Gly316Glu)
|
rs797045214
|
|
|
NM_000361.3(THBD):c.757G>A (p.Glu253Lys)
|
rs2122671304
|
|
|
NM_000368.5(TSC1):c.1675del (p.Cys559fs)
|
|
|
|
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)
|
rs121908872
|
|
|
NM_000370.3(TTPA):c.755T>C (p.Met252Thr)
|
rs797046070
|
|
|
NM_000372.5(TYR):c.101A>C (p.Glu34Ala)
|
rs1555083355
|
|
|
NM_000372.5(TYR):c.1100A>G (p.His367Arg)
|
rs61754384
|
|
|
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)
|
rs797046081
|
|
|
NM_000372.5(TYR):c.221_222del (p.Val74fs)
|
rs767003400
|
|
|
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys)
|
rs797046082
|
|
|
NM_000372.5(TYR):c.452T>G (p.Ile151Ser)
|
rs747095957
|
|
|
NM_000372.5(TYR):c.572del (p.Gly191fs)
|
rs61754361
|
|
|
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)
|
rs28940880
|
|
|
NM_000372.5(TYR):c.661G>A (p.Glu221Lys)
|
rs758115945
|
|
|
NM_000372.5(TYR):c.739T>C (p.Cys247Arg)
|
rs367543068
|
|
|
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)
|
rs765329261
|
|
|
NM_000372.5(TYR):c.820-3C>G
|
rs61754371
|
|
|
NM_000372.5(TYR):c.841G>A (p.Glu281Lys)
|
rs142629239
|
|
|
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)
|
rs61754374
|
|
|
NM_000372.5(TYR):c.929dup (p.Arg311fs)
|
rs281865527
|
|
|
NM_000372.5(TYR):c.982G>A (p.Glu328Lys)
|
rs61754380
|
|
|
NM_000376.3(VDR):c.1036G>A (p.Val346Met)
|
rs267607169
|
|
|
NM_000376.3(VDR):c.910G>A (p.Gly304Arg)
|
rs747349160
|
|
|
NM_000377.3(WAS):c.1080A>C (p.Pro360=)
|
rs1409607754
|
|
|
NM_000377.3(WAS):c.1188A>C (p.Pro396=)
|
rs1557007268
|
|
|
NM_000377.3(WAS):c.1191G>C (p.Pro397=)
|
rs782486251
|
|
|
NM_000377.3(WAS):c.1267G>C (p.Gly423Arg)
|
rs782711732
|
|
|
NM_000377.3(WAS):c.192G>A (p.Trp64Ter)
|
rs2147262855
|
|
|
NM_000377.3(WAS):c.407_408delinsTT (p.Ala136Val)
|
rs2147263947
|
|
|
NM_000377.3(WAS):c.470G>A (p.Arg157His)
|
rs369850591
|
|
|
NM_000377.3(WAS):c.548G>A (p.Gly183Glu)
|
rs2147264317
|
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
|
NM_000379.4(XDH):c.364A>T (p.Met122Leu)
|
|
|
|
NM_000381.4(MID1):c.1510T>C (p.Leu504=)
|
rs797045704
|
|
|
NM_000381.4(MID1):c.1541AGA[1] (p.Lys515del)
|
rs1300755857
|
|
|
NM_000381.4(MID1):c.34A>G (p.Ile12Val)
|
rs1555905454
|
|
|
NM_000381.4(MID1):c.661-22_661-21dup
|
rs375668839
|
|
|
NM_000381.4(MID1):c.661-8_661-7del
|
rs375668839
|
|
|
NM_000383.4(AIRE):c.1404G>A (p.Thr468=)
|
rs7281600
|
|
|
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)
|
rs886041124
|
|
|
NM_000383.4(AIRE):c.581T>C (p.Met194Thr)
|
rs1351412367
|
|
|
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)
|
rs1800520
|
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
|
NM_000384.3(APOB):c.10848del (p.Gly3617fs)
|
rs982371659
|
|
|
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
|
|
|
|
NM_000384.3(APOB):c.11812_11813del (p.Asp3938fs)
|
rs1553382678
|
|
|
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
|
|
|
|
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
|
|
|
|
NM_000384.3(APOB):c.13025del (p.Pro4342fs)
|
rs797045253
|
|
|
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
|
|
|
|
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
|
|
|
|
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
|
|
|
|
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
|
|
|
|
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
|
|
|
|
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
|
|
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
|
|
|
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
|
|
|
|
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)
|
rs104893712
|
|
|
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)
|
rs2107649591
|
|
|
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg)
|
rs1553768983
|
|
|
NM_000388.4(CASR):c.2404A>C (p.Asn802His)
|
rs2074937924
|
|
|
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)
|
rs193922436
|
|
|
NM_000388.4(CASR):c.2712C>T (p.Gly904=)
|
rs1027208202
|
|
|
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter)
|
rs1256856876
|
|
|
NM_000388.4(CASR):c.346G>A (p.Ala116Thr)
|
rs104893691
|
|
|
NM_000388.4(CASR):c.452C>T (p.Thr151Met)
|
rs104893694
|
|
|
NM_000391.4(TPP1):c.733C>T (p.Arg245Cys)
|
rs587780481
|
|
|
NM_000406.3(GNRHR):c.156del (p.Phe52fs)
|
rs2109988131
|
|
|
NM_000407.5(GP1BB):c.1A>G (p.Met1Val)
|
rs1389191920
|
|
|
NM_000407.5(GP1BB):c.448dup (p.Ala150fs)
|
rs1360071443
|
|
|
NM_000417.3(IL2RA):c.301C>T (p.Gln101Ter)
|
rs886041037
|
|
|
NM_000417.3(IL2RA):c.419A>T (p.Tyr140Phe)
|
rs2132853878
|
|
|
NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu)
|
rs7207402
|
|
|
NM_000419.5(ITGA2B):c.2095G>A (p.Gly699Ser)
|
rs1555613626
|
|
|
NM_000419.5(ITGA2B):c.2252A>G (p.Gln751Arg)
|
rs2143443652
|
|
|
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)
|
rs766503255
|
|
|
NM_000419.5(ITGA2B):c.867C>G (p.Pro289=)
|
rs1047920032
|
|
|
NM_000424.4(KRT5):c.991C>T (p.Arg331Cys)
|
rs61297109
|
|
|
NM_000426.4(LAMA2):c.-3A>G
|
rs764267708
|
|
|
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu)
|
rs35277491
|
|
|
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)
|
rs35065563
|
|
|
NM_000426.4(LAMA2):c.3925-6T>A
|
rs372612467
|
|
|
NM_000426.4(LAMA2):c.4909G>C (p.Glu1637Gln)
|
rs138303386
|
|
|
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)
|
rs56173620
|
|
|
NM_000430.4(PAFAH1B1):c.1002+1G>A
|
rs113994203
|
|
|
NM_000430.4(PAFAH1B1):c.1002+5G>A
|
rs587784235
|
|
|
NM_000430.4(PAFAH1B1):c.1003-30_1032del
|
rs1555527743
|
|
|
NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp)
|
rs587784236
|
|
|
NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr)
|
rs587784236
|
|
|
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs)
|
rs797045855
|
|
|
NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs)
|
rs587784237
|
|
|
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs)
|
rs113994200
|
|
|
NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs)
|
rs113994200
|
|
|
NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs)
|
rs587784238
|
|
|
NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn)
|
rs587784239
|
|
|
NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs)
|
rs587784240
|
|
|
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter)
|
rs587784241
|
|
|
NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr)
|
rs587784242
|
|
|
NM_000430.4(PAFAH1B1):c.1159+1G>A
|
rs1057520515
|
|
|
NM_000430.4(PAFAH1B1):c.1159+2T>A
|
rs587784243
|
|
|
NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr)
|
rs587784244
|
|
|
NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr)
|
rs587784245
|
|
|
NM_000430.4(PAFAH1B1):c.1188C>T (p.Val396=)
|
rs587784246
|
|
|
NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp)
|
rs587784247
|
|
|
NM_000430.4(PAFAH1B1):c.1196G>C (p.Ser399Thr)
|
rs587784248
|
|
|
NM_000430.4(PAFAH1B1):c.1201G>C (p.Asp401His)
|
rs587784249
|
|
|
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys)
|
rs587784250
|
|
|
NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys)
|
rs587784251
|
|
|
NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs)
|
rs587784252
|
|
|
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs)
|
rs587784253
|
|
|
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs)
|
rs113994198
|
|
|
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)
|
rs113994198
|
|
|
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg)
|
rs587784254
|
|
|
NM_000430.4(PAFAH1B1):c.164G>A (p.Trp55Ter)
|
rs757993270
|
|
|
NM_000430.4(PAFAH1B1):c.190_192+5dup
|
rs797045857
|
|
|
NM_000430.4(PAFAH1B1):c.192+1G>A
|
rs587784256
|
|
|
NM_000430.4(PAFAH1B1):c.192+1G>T
|
rs587784256
|
|
|
NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn)
|
rs587784257
|
|
|
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)
|
rs121434489
|
|
|
NM_000430.4(PAFAH1B1):c.247_250dup (p.Pro84fs)
|
rs2151660952
|
|
|
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter)
|
rs587784258
|
|
|
NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs)
|
rs797045858
|
|
|
NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter)
|
rs587784259
|
|
|
NM_000430.4(PAFAH1B1):c.33-3C>G
|
rs587784260
|
|
|
NM_000430.4(PAFAH1B1):c.33-3C>T
|
rs587784260
|
|
|
NM_000430.4(PAFAH1B1):c.33-8_33-7delinsAG
|
rs1555526239
|
|
|
NM_000430.4(PAFAH1B1):c.347dup (p.His117fs)
|
rs797045859
|
|
|
NM_000430.4(PAFAH1B1):c.350A>G (p.His117Arg)
|
rs797045860
|
|
|
NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp)
|
rs587784261
|
|
|
NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter)
|
rs587784262
|
|
|
NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val)
|
rs587784263
|
|
|
NM_000430.4(PAFAH1B1):c.399+1G>A
|
rs587784264
|
|
|
NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile)
|
rs587784265
|
|
|
NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter)
|
rs587784266
|
|
|
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter)
|
rs587784267
|
|
|
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs)
|
rs797045861
|
|
|
NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs)
|
rs587784268
|
|
|
NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter)
|
rs587784269
|
|
|
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)
|
rs121434487
|
|
|
NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr)
|
rs200390886
|
|
|
NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs)
|
rs1555526718
|
|
|
NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs)
|
rs587784270
|
|
|
NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs)
|
rs587784271
|
|
|
NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs)
|
rs587784271
|
|
|
NM_000430.4(PAFAH1B1):c.568+1G>A
|
rs1555526733
|
|
|
NM_000430.4(PAFAH1B1):c.569-10T>C
|
rs113994202
|
|
|
NM_000430.4(PAFAH1B1):c.569-3del
|
rs797045863
|
|
|
NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg)
|
rs587784272
|
|
|
NM_000430.4(PAFAH1B1):c.58C>A (p.Arg20Ser)
|
rs975702095
|
|
|
NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter)
|
rs587784273
|
|
|
NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs)
|
rs587784274
|
|
|
NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs)
|
rs587784275
|
|
|
NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter)
|
rs587784276
|
|
|
NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs)
|
rs587784277
|
|
|
NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter)
|
rs587784278
|
|
|
NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs)
|
rs797045864
|
|
|
NM_000430.4(PAFAH1B1):c.671+4A>G
|
rs587784279
|
|
|
NM_000430.4(PAFAH1B1):c.671+5G>A
|
rs587784280
|
|
|
NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp)
|
rs587784281
|
|
|
NM_000430.4(PAFAH1B1):c.675C>G (p.Tyr225Ter)
|
rs587784282
|
|
|
NM_000430.4(PAFAH1B1):c.687A>T (p.Thr229=)
|
rs587784283
|
|
|
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)
|
rs797045865
|
|
|
NM_000430.4(PAFAH1B1):c.708G>A (p.Trp236Ter)
|
rs2151667800
|
|
|
NM_000430.4(PAFAH1B1):c.716dup (p.Met239fs)
|
rs587784284
|
|
|
NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs)
|
rs797045866
|
|
|
NM_000430.4(PAFAH1B1):c.728_732dup (p.Asp245fs)
|
rs797045867
|
|
|
NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter)
|
rs587784285
|
|
|
NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter)
|
rs587784286
|
|
|
NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg)
|
rs587784287
|
|
|
NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA (p.Thr257fs)
|
rs797045868
|
|
|
NM_000430.4(PAFAH1B1):c.773_774del (p.Val258fs)
|
rs797045869
|
|
|
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter)
|
rs121434483
|
|
|
NM_000430.4(PAFAH1B1):c.829dup (p.His277fs)
|
rs797045870
|
|
|
NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg)
|
rs587784288
|
|
|
NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter)
|
rs369259961
|
|
|
NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter)
|
rs587784289
|
|
|
NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly)
|
rs1555527149
|
|
|
NM_000430.4(PAFAH1B1):c.900+1G>A
|
rs587784290
|
|
|
NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=)
|
rs587784291
|
|
|
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp)
|
rs587784291
|
|
|
NM_000430.4(PAFAH1B1):c.910del (p.Ser304fs)
|
rs587784292
|
|
|
NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs)
|
rs797045871
|
|
|
NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs)
|
rs797045872
|
|
|
NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe)
|
rs587784293
|
|
|
NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg)
|
rs587784294
|
|
|
NM_000434.4(NEU1):c.114_115del (p.Leu40fs)
|
rs754405067
|
|
|
NM_000434.4(NEU1):c.934G>A (p.Glu312Lys)
|
rs1554252319
|
|
|
NM_000439.5(PCSK1):c.2129C>G (p.Pro710Arg)
|
rs199684712
|
|
|
NM_000439.5(PCSK1):c.239G>A (p.Arg80Gln)
|
rs1799904
|
|
|
NM_000439.5(PCSK1):c.595C>A (p.Arg199=)
|
rs1480597482
|
|
|
NM_000455.5(STK11):c.1149C>T (p.Arg383=)
|
rs2145435963
|
|
|
NM_000455.5(STK11):c.1212C>T (p.Ser404=)
|
rs754945004
|
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.317G>C (p.Arg106Pro)
|
rs375622587
|
|
|
NM_000458.4(HNF1B):c.-134G>A
|
rs577836898
|
|
|
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)
|
|
|
|
NM_000458.4(HNF1B):c.1508C>T (p.Ala503Val)
|
rs748568345
|
|
|
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
|
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
|
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)
|
rs760079000
|
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
|
NM_000458.4(HNF1B):c.658G>C (p.Asp220His)
|
rs377555356
|
|
|
NM_000458.4(HNF1B):c.807_809+3del
|
rs2147552486
|
|
|
NM_000458.4(HNF1B):c.831G>A (p.Gly277=)
|
rs199797518
|
|
|
NM_000463.3(UGT1A1):c.1043del (p.Asn348fs)
|
rs745655794
|
|
|
NM_000463.3(UGT1A1):c.1084+1G>T
|
rs587784535
|
|
|
NM_000463.3(UGT1A1):c.1413G>A (p.Ala471=)
|
rs587784537
|
|
|
NM_000463.3(UGT1A1):c.141C>A (p.Ile47=)
|
rs34526305
|
|
|
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter)
|
rs72551340
|
|
|
NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs)
|
rs797046090
|
|
|
NM_000463.3(UGT1A1):c.269_270del (p.Glu90fs)
|
rs2125985854
|
|
|
NM_000463.3(UGT1A1):c.476T>C (p.Ile159Thr)
|
rs587784539
|
|
|
NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu)
|
rs587784540
|
|
|
NM_000463.3(UGT1A1):c.530G>A (p.Cys177Tyr)
|
rs1373930486
|
|
|
NM_000463.3(UGT1A1):c.573del (p.Tyr192fs)
|
rs1205477836
|
|
|
NM_000463.3(UGT1A1):c.592T>C (p.Ser198Pro)
|
rs1553620840
|
|
|
NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln)
|
rs1553620849
|
|
|
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)
|
rs72551343
|
|
|
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
|
rs35350960
|
|
|
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs)
|
rs797046091
|
|
|
NM_000463.3(UGT1A1):c.996+2_996+5del
|
rs2126030563
|
|
|
NM_000465.4(BARD1):c.1609G>C (p.Glu537Gln)
|
rs2106038947
|
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
|
NM_000465.4(BARD1):c.2226G>C (p.Leu742Phe)
|
rs1064793606
|
|
|
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])
|
rs587781979
|
|
|
NM_000465.4(BARD1):c.575C>A (p.Ser192Tyr)
|
rs587782482
|
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
|
NM_000474.4(TWIST1):c.108del (p.Arg37fs)
|
rs2115397200
|
|
|
NM_000478.6(ALPL):c.449T>A (p.Ile150Asn)
|
rs1553412351
|
|
|
NM_000479.5(AMH):c.1193C>T (p.Pro398Leu)
|
rs368933314
|
|
|
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)
|
rs774153480
|
|
|
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)
|
rs551472773
|
|
|
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val)
|
rs1557142145
|
|
|
NM_000489.6(ATRX):c.1446A>G (p.Glu482=)
|
rs886044778
|
|
|
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp)
|
rs1557140316
|
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
|
NM_000489.6(ATRX):c.278A>G (p.Asp93Gly)
|
rs1064796774
|
|
|
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=)
|
rs111725949
|
|
|
NM_000489.6(ATRX):c.4317+4A>G
|
rs963331082
|
|
|
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del)
|
rs587780288
|
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
|
NM_000489.6(ATRX):c.4483A>T (p.Asn1495Tyr)
|
rs782533736
|
|
|
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1])
|
rs797045406
|
|
|
NM_000489.6(ATRX):c.5271G>A (p.Glu1757=)
|
rs141240580
|
|
|
NM_000489.6(ATRX):c.5787-24GTTT[4]
|
rs782072699
|
|
|
NM_000489.6(ATRX):c.654A>G (p.Glu218=)
|
rs782378258
|
|
|
NM_000489.6(ATRX):c.7158A>G (p.Arg2386=)
|
rs1557041056
|
|
|
NM_000489.6(ATRX):c.7396G>T (p.Gly2466Cys)
|
rs782540364
|
|
|
NM_000489.6(ATRX):c.838T>C (p.Cys280Arg)
|
rs797045408
|
|
|
NM_000489.6(ATRX):c.927_929dup (p.Tyr309_Glu310insAsp)
|
rs1557142576
|
|
|
NM_000489.6(ATRX):c.983A>G (p.Glu328Gly)
|
rs1557142526
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
|
NM_000492.4(CFTR):c.4118G>T (p.Ser1373Ile)
|
rs587780313
|
|
|
NM_000516.7(GNAS):c.1012_1013insT (p.Lys338fs)
|
rs2146300173
|
|
|
NM_000516.7(GNAS):c.138G>A (p.Leu46=)
|
rs760146185
|
|
|
NM_000516.7(GNAS):c.257+5G>A
|
rs758268936
|
|
|
NM_000516.7(GNAS):c.283del (p.Ile95fs)
|
rs2146178007
|
|
|
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr)
|
rs2146178601
|
|
|
NM_000516.7(GNAS):c.314C>T (p.Thr105Ile)
|
rs767946220
|
|
|
NM_000516.7(GNAS):c.348dup (p.Val117fs)
|
rs2090848106
|
|
|
NM_000516.7(GNAS):c.55C>T (p.Gln19Ter)
|
rs2089380075
|
|
|
NM_000516.7(GNAS):c.823A>G (p.Ser275Gly)
|
rs2146285803
|
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
|
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser)
|
rs797045614
|
|
|
NM_000522.5(HOXA13):c.150T>G (p.Ala50=)
|
rs1554275930
|
|
|
NM_000522.5(HOXA13):c.603C>T (p.Ala201=)
|
rs1206539877
|
|
|
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)
|
rs1440128889
|
|
|
NM_000525.4(KCNJ11):c.-216G>T
|
rs561579833
|
|
|
NM_000525.4(KCNJ11):c.-314dup
|
rs781416603
|
|
|
NM_000525.4(KCNJ11):c.-507del
|
rs35513985
|
|
|
NM_000525.4(KCNJ11):c.-507dup
|
rs35513985
|
|
|
NM_000525.4(KCNJ11):c.-559G>C
|
rs547932593
|
|
|
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)
|
rs587783666
|
|
|
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)
|
rs80356616
|
|
|
NM_000525.4(KCNJ11):c.179T>C (p.Phe60Ser)
|
rs387906783
|
|
|
NM_000525.4(KCNJ11):c.248G>C (p.Trp83Ser)
|
rs2133380675
|
|
|
NM_000525.4(KCNJ11):c.28G>A (p.Glu10Lys)
|
rs587783667
|
|
|
NM_000525.4(KCNJ11):c.331_332del (p.Val111fs)
|
rs2133380463
|
|
|
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)
|
rs557160758
|
|
|
NM_000525.4(KCNJ11):c.490C>T (p.Leu164Phe)
|
rs1554901796
|
|
|
NM_000525.4(KCNJ11):c.498C>G (p.Cys166Trp)
|
rs587783669
|
|
|
NM_000525.4(KCNJ11):c.515C>T (p.Ala172Val)
|
rs1426834688
|
|
|
NM_000525.4(KCNJ11):c.521C>G (p.Ala174Gly)
|
rs587783670
|
|
|
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala)
|
rs587783671
|
|
|
NM_000525.4(KCNJ11):c.556C>G (p.His186Asp)
|
rs2133380076
|
|
|
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)
|
rs80356625
|
|
|
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)
|
rs80356624
|
|
|
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)
|
rs587783672
|
|
|
NM_000525.4(KCNJ11):c.685G>A (p.Glu229Lys)
|
rs587783673
|
|
|
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala)
|
rs797045637
|
|
|
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val)
|
rs797045637
|
|
|
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)
|
rs750414160
|
|
|
NM_000525.4(KCNJ11):c.8C>G (p.Ser3Cys)
|
rs587783674
|
|
|
NM_000525.4(KCNJ11):c.944T>C (p.Phe315Ser)
|
rs2133379125
|
|
|
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys)
|
rs193929355
|
|
|
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)
|
rs550315112
|
|
|
NM_000525.4(KCNJ11):c.988T>C (p.Tyr330His)
|
rs587783675
|
|
|
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys)
|
rs193929356
|
|
|
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
|
rs2145262260
|
|
|
NM_000528.4(MAN2B1):c.436+1G>A
|
rs2145288922
|
|
|
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
|
rs1054487
|
|
|
NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)
|
rs797045890
|
|
|
NM_000533.5(PLP1):c.687A>C (p.Lys229Asn)
|
rs1556270478
|
|
|
NM_000534.5(PMS1):c.*14AGA[1]
|
rs772733884
|
|
|
NM_000534.5(PMS1):c.1072A>G (p.Ile358Val)
|
rs1401358453
|
|
|
NM_000534.5(PMS1):c.1220T>G (p.Leu407Ter)
|
rs2106461397
|
|
|
NM_000534.5(PMS1):c.928T>G (p.Leu310Val)
|
rs2106458646
|
|
|
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile)
|
rs200513014
|
|
|
NM_000535.7(PMS2):c.1224T>C (p.Thr408=)
|
rs1554298007
|
|
|
NM_000535.7(PMS2):c.1245G>A (p.Val415=)
|
rs370701800
|
|
|
NM_000535.7(PMS2):c.1332G>A (p.Arg444=)
|
rs1554297874
|
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.1760G>C (p.Ser587Thr)
|
|
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
|
NM_000535.7(PMS2):c.1888A>G (p.Lys630Glu)
|
rs2128721764
|
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
|
NM_000535.7(PMS2):c.218G>A (p.Cys73Tyr)
|
rs1326865470
|
|
|
NM_000535.7(PMS2):c.23+3G>T
|
rs1408475000
|
|
|
NM_000535.7(PMS2):c.2310G>T (p.Leu770Phe)
|
rs1583281360
|
|
|
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly)
|
rs375968016
|
|
|
NM_000535.7(PMS2):c.2506G>C (p.Glu836Gln)
|
|
|
|
NM_000535.7(PMS2):c.251-11CT[2]
|
|
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
|
NM_000535.7(PMS2):c.348A>G (p.Ala116=)
|
rs763057312
|
|
|
NM_000535.7(PMS2):c.447C>T (p.Tyr149=)
|
rs1224505288
|
|
|
NM_000535.7(PMS2):c.475G>T (p.Val159Leu)
|
rs142416537
|
|
|
NM_000535.7(PMS2):c.531T>G (p.Ile177Met)
|
rs863224679
|
|
|
NM_000535.7(PMS2):c.684C>T (p.Gly228=)
|
rs371876208
|
|
|
NM_000535.7(PMS2):c.789G>A (p.Leu263=)
|
rs755394319
|
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
|
NM_000535.7(PMS2):c.950A>G (p.Gln317Arg)
|
rs537024768
|
|
|
NM_000540.3(RYR1):c.1001G>T (p.Gly334Val)
|
rs587784371
|
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
|
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met)
|
rs200144997
|
|
|
NM_000540.3(RYR1):c.10687-7C>A
|
rs2960354
|
|
|
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs)
|
rs1555790936
|
|
|
NM_000540.3(RYR1):c.1186_1187inv (p.Glu396Ser)
|
|
|
|
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=)
|
rs184450380
|
|
|
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=)
|
rs184450380
|
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
|
NM_000540.3(RYR1):c.13768G>A (p.Glu4590Lys)
|
rs766518951
|
|
|
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=)
|
rs1468571
|
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
|
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)
|
rs536148030
|
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
|
NM_000540.3(RYR1):c.14842C>A (p.Gln4948Lys)
|
rs1555805633
|
|
|
NM_000540.3(RYR1):c.1589G>T (p.Arg530Leu)
|
rs111888148
|
|
|
NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer)
|
rs797045931
|
|
|
NM_000540.3(RYR1):c.1901C>G (p.Thr634Arg)
|
rs1555769544
|
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
|
NM_000540.3(RYR1):c.2870+1G>A
|
rs765241115
|
|
|
NM_000540.3(RYR1):c.3381+1G>A
|
rs797045934
|
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
|
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs)
|
rs587784374
|
|
|
NM_000540.3(RYR1):c.4090G>T (p.Gly1364Trp)
|
rs35869497
|
|
|
NM_000540.3(RYR1):c.4094dup (p.Glu1366fs)
|
rs587784375
|
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
|
NM_000540.3(RYR1):c.5674_5676del (p.Lys1892del)
|
rs587784377
|
|
|
NM_000540.3(RYR1):c.5910G>C (p.Gln1970His)
|
rs1555780327
|
|
|
NM_000540.3(RYR1):c.5954G>C (p.Ser1985Thr)
|
rs1441012614
|
|
|
NM_000540.3(RYR1):c.6127+1G>A
|
rs1283302989
|
|
|
NM_000540.3(RYR1):c.6262G>A (p.Glu2088Lys)
|
rs587784378
|
|
|
NM_000540.3(RYR1):c.7425G>A (p.Gln2475=)
|
rs35512081
|
|
|
NM_000540.3(RYR1):c.7487C>G (p.Pro2496Arg)
|
rs193922817
|
|
|
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=)
|
rs1465698
|
|
|
NM_000540.3(RYR1):c.784G>T (p.Glu262Ter)
|
rs1381186128
|
|
|
NM_000540.3(RYR1):c.831G>C (p.Gln277His)
|
rs34004552
|
|
|
NM_000540.3(RYR1):c.8724C>A (p.Tyr2908Ter)
|
rs797045935
|
|
|
NM_000540.3(RYR1):c.897G>C (p.Val299=)
|
rs76854339
|
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
|
NM_000545.6(HNF1A):c.-343del
|
rs1007340657
|
|
|
NM_000545.8(HNF1A):c.1018C>T (p.Pro340Ser)
|
|
|
|
NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs)
|
rs2135819653
|
|
|
NM_000545.8(HNF1A):c.1107+6T>C
|
|
|
|
NM_000545.8(HNF1A):c.1114G>A (p.Ala372Thr)
|
rs587780356
|
|
|
NM_000545.8(HNF1A):c.1137del (p.Val380fs)
|
rs1555212248
|
|
|
NM_000545.8(HNF1A):c.1147_1157del (p.Leu383fs)
|
rs2135845949
|
|
|
NM_000545.8(HNF1A):c.1359del (p.Ser454fs)
|
rs1555212359
|
|
|
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del)
|
rs544842497
|
|
|
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala)
|
rs587778393
|
|
|
NM_000545.8(HNF1A):c.1761C>T (p.Ser587=)
|
rs2135851686
|
|
|
NM_000545.8(HNF1A):c.24_35dup (p.Gln9_Leu12dup)
|
rs2135819368
|
|
|
NM_000545.8(HNF1A):c.306C>T (p.Ala102=)
|
rs1486966222
|
|
|
NM_000545.8(HNF1A):c.309G>T (p.Val103=)
|
rs1374173552
|
|
|
NM_000545.8(HNF1A):c.326+1G>T
|
rs2135820424
|
|
|
NM_000545.8(HNF1A):c.415C>T (p.Leu139Phe)
|
rs1475566248
|
|
|
NM_000545.8(HNF1A):c.431T>G (p.Leu144Arg)
|
rs2135832696
|
|
|
NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter)
|
rs2135832792
|
|
|
NM_000545.8(HNF1A):c.526+1G>A
|
rs1364708195
|
|
|
NM_000545.8(HNF1A):c.526+1G>C
|
rs1364708195
|
|
|
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)
|
rs754728827
|
|
|
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys)
|
rs1180119907
|
|
|
NM_000545.8(HNF1A):c.629C>T (p.Ser210Phe)
|
rs2135839404
|
|
|
NM_000545.8(HNF1A):c.676_678del (p.Lys226del)
|
rs1555211927
|
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
|
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)
|
rs886039544
|
|
|
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser)
|
rs1555212006
|
|
|
NM_000545.8(HNF1A):c.794A>G (p.Tyr265Cys)
|
rs1555212006
|
|
|
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp)
|
rs886039386
|
|
|
NM_000545.8(HNF1A):c.815G>A (p.Arg272His)
|
rs137853238
|
|
|
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)
|
rs137853245
|
|
|
NM_000545.8(HNF1A):c.840G>A (p.Lys280=)
|
rs1876974758
|
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
|
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln)
|
rs193922606
|
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
|
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val)
|
rs369764257
|
|
|
NM_000546.5(TP53):c.2588dup
|
rs1555523630
|
|
|
NM_000546.6(TP53):c.1073A>T (p.Glu358Val)
|
rs773553186
|
|
|
NM_000546.6(TP53):c.1079G>T (p.Gly360Val)
|
rs35993958
|
|
|
NM_000546.6(TP53):c.416A>C (p.Lys139Thr)
|
rs2151033390
|
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
|
NM_000546.6(TP53):c.703_705dup (p.Asn235dup)
|
rs2151021881
|
|
|
NM_000546.6(TP53):c.741_742delinsTT (p.Arg248Trp)
|
rs1555525498
|
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.845G>T (p.Arg282Leu)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.867_868delinsAA (p.Arg290Ser)
|
rs2151014889
|
|
|
NM_000546.6(TP53):c.920-1G>C
|
rs587781702
|
|
|
NM_000548.5(TSC2):c.2417_2419dup (p.Val806dup)
|
rs1298756950
|
|
|
NM_000548.5(TSC2):c.2985C>T (p.Leu995=)
|
rs786203324
|
|
|
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)
|
rs36078782
|
|
|
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer)
|
rs796053515
|
|
|
NM_000548.5(TSC2):c.3967G>A (p.Ala1323Thr)
|
rs1248093496
|
|
|
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)
|
rs777529733
|
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
|
NM_000548.5(TSC2):c.4716G>A (p.Thr1572=)
|
rs369346726
|
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
|
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=)
|
rs45514196
|
|
|
NM_000548.5(TSC2):c.5161-10A>G
|
rs1800718
|
|
|
NM_000548.5(TSC2):c.5324_5325dup (p.Ala1776fs)
|
rs2151639909
|
|
|
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)
|
rs1051771
|
|
|
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)
|
rs45517140
|
|
|
NM_000548.5(TSC2):c.955G>T (p.Val319Leu)
|
|
|
|
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)
|
rs387906560
|
|
|
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro)
|
rs776174514
|
|
|
NM_000550.3(TYRP1):c.138C>T (p.Ser46=)
|
rs185178312
|
|
|
NM_000550.3(TYRP1):c.1584A>G (p.Lys528=)
|
rs1554648552
|
|
|
NM_000551.3(VHL):c.-110C>G
|
rs1696106905
|
|
|
NM_000551.3(VHL):c.-122T>C
|
rs1212094215
|
|
|
NM_000551.4(VHL):c.-61_-51dup
|
rs727503743
|
|
|
NM_000551.4(VHL):c.366A>G (p.Ala122=)
|
rs1474241640
|
|
|
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)
|
rs730882035
|
|
|
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)
|
rs869025667
|
|
|
NM_000552.5(VWF):c.1613C>G (p.Pro538Arg)
|
rs139196998
|
|
|
NM_000552.5(VWF):c.161C>A (p.Ala54Glu)
|
rs200901782
|
|
|
NM_000552.5(VWF):c.2694C>T (p.Cys898=)
|
|
|
|
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr)
|
rs61749368
|
|
|
NM_000552.5(VWF):c.5572C>T (p.Pro1858Ser)
|
|
|
|
NM_000553.6(WRN):c.1383G>A (p.Thr461=)
|
rs542602723
|
|
|
NM_000553.6(WRN):c.3237G>C (p.Ser1079=)
|
rs11574345
|
|
|
NM_000553.6(WRN):c.4175T>C (p.Val1392Ala)
|
rs2130515437
|
|
|
NM_000639.3(FASLG):c.494C>T (p.Thr165Ile)
|
rs1403553441
|
|
|
NM_000681.4(ADRA2A):c.810_827del (p.Glu271_Pro276del)
|
rs780389097
|
|
|
NM_000702.4(ATP1A2):c.1639del (p.Glu547fs)
|
rs1651730901
|
|
|
NM_000702.4(ATP1A2):c.3031G>T (p.Gly1011Cys)
|
rs1553246149
|
|
|
NM_000726.5(CACNB4):c.50C>G (p.Ser17Cys)
|
rs797045425
|
|
|
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=)
|
rs2229959
|
|
|
NM_000751.3(CHRND):c.932+5G>A
|
rs797045474
|
|
|
NM_000760.4(CSF3R):c.1262C>A (p.Pro421Gln)
|
rs776379864
|
|
|
NM_000760.4(CSF3R):c.1282A>G (p.Arg428Gly)
|
rs2124118241
|
|
|
NM_000760.4(CSF3R):c.1666A>G (p.Lys556Glu)
|
rs1650463783
|
|
|
NM_000760.4(CSF3R):c.1867G>T (p.Gly623Trp)
|
rs1437330772
|
|
|
NM_000760.4(CSF3R):c.1870T>A (p.Ser624Thr)
|
|
|
|
NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp)
|
rs370491074
|
|
|
NM_000760.4(CSF3R):c.326T>C (p.Leu109Pro)
|
rs1290014200
|
|
|
NM_000760.4(CSF3R):c.610C>T (p.Gln204Ter)
|
|
|
|
NM_000760.4(CSF3R):c.624G>T (p.Ala208=)
|
rs776543343
|
|
|
NM_000781.3(CYP11A1):c.1164C>T (p.His388=)
|
rs537187397
|
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[4]
|
rs60484572
|
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[5]
|
rs60484572
|
|
|
NM_000814.6(GABRB3):c.619_623del (p.Glu207fs)
|
rs2140730456
|
|
|
NM_000814.6(GABRB3):c.766C>G (p.Leu256Val)
|
rs1555401942
|
|
|
NM_000831.4(GRIK3):c.2456A>G (p.Gln819Arg)
|
rs1427357469
|
|
|
NM_000834.5(GRIN2B):c.1479C>G (p.Thr493=)
|
rs202139349
|
|
|
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)
|
rs1057519004
|
|
|
NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=)
|
rs1805522
|
|
|
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser)
|
rs879253945
|
|
|
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)
|
rs876661151
|
|
|
NM_000834.5(GRIN2B):c.248C>T (p.Thr83Ile)
|
rs797045607
|
|
|
NM_000834.5(GRIN2B):c.2810A>G (p.His937Arg)
|
rs1168893427
|
|
|
NM_000834.5(GRIN2B):c.3195C>T (p.Thr1065=)
|
rs879254211
|
|
|
NM_000834.5(GRIN2B):c.3510A>T (p.Gly1170=)
|
rs1555102142
|
|
|
NM_000834.5(GRIN2B):c.3703G>A (p.Gly1235Ser)
|
rs886049099
|
|
|
NM_000834.5(GRIN2B):c.4084CAC[2] (p.His1364del)
|
rs1214837315
|
|
|
NM_000834.5(GRIN2B):c.4309G>A (p.Ala1437Thr)
|
rs797045608
|
|
|
NM_000901.5(NR3C2):c.1758-3C>T
|
|
|
|
NM_000901.5(NR3C2):c.2340C>T (p.Val780=)
|
rs745311372
|
|
|
NM_000939.4(POMC):c.133-2A>C
|
rs1553400259
|
|
|
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3])
|
rs10654394
|
|
|
NM_000939.4(POMC):c.34del (p.Leu12fs)
|
rs1671498215
|
|
|
NM_000939.4(POMC):c.394C>G (p.Pro132Ala)
|
rs8192606
|
|
|
NM_000969.5(RPL5):c.3+11G>A
|
rs376414614
|
|
|
NM_000969.5(RPL5):c.506del (p.Gly169fs)
|
rs2100685045
|
|
|
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
|
rs1571031819
|
|
|
NM_000969.5(RPL5):c.766_781del (p.Lys256fs)
|
rs2100697037
|
|
|
NM_000969.5(RPL5):c.794+16_794+19del
|
rs747509136
|
|
|
NM_000969.5(RPL5):c.869C>G (p.Ala290Gly)
|
rs2100700426
|
|
|
NM_000975.5(RPL11):c.296_298del (p.Phe99del)
|
rs1553121852
|
|
|
NM_000975.5(RPL11):c.302A>C (p.Asp101Ala)
|
rs779597775
|
|
|
NM_000978.4(RPL23):c.341-30ATTTT[3]
|
rs540966358
|
|
|
NM_000987.5(RPL26):c.377G>A (p.Arg126His)
|
rs932068728
|
|
|
NM_001001563.5(TIMM50):c.412C>A (p.Pro138Thr)
|
rs748098940
|
|
|
NM_001003694.2(BRPF1):c.2398del (p.Asp800fs)
|
rs2125509502
|
|
|
NM_001003800.2(BICD2):c.1407G>C (p.Glu469Asp)
|
rs1853403291
|
|
|
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)
|
rs797045412
|
|
|
NM_001003841.3(SLC6A19):c.828C>T (p.Phe276=)
|
rs780947308
|
|
|
NM_001004320.2(AGMO):c.60_61dup (p.Tyr21fs)
|
rs370025027
|
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
|
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)
|
rs121909089
|
|
|
NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu)
|
rs587783594
|
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
|
NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly)
|
rs587783596
|
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
|
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)
|
rs587783597
|
|
|
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)
|
rs587783598
|
|
|
NM_001005361.3(DNM2):c.590-31CCTCTGA[3]
|
rs748362325
|
|
|
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])
|
rs60216939
|
|
|
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs)
|
rs1556016632
|
|
|
NM_001008537.3(NEXMIF):c.1998AGA[1] (p.Glu667del)
|
rs764439412
|
|
|
NM_001008537.3(NEXMIF):c.2406T>A (p.Asn802Lys)
|
rs1307046706
|
|
|
NM_001008537.3(NEXMIF):c.2560C>A (p.Pro854Thr)
|
rs797045645
|
|
|
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs)
|
rs797045646
|
|
|
NM_001008537.3(NEXMIF):c.3972C>T (p.Ala1324=)
|
rs797045647
|
|
|
NM_001009944.3(PKD1):c.10167+25_10167+43del
|
rs1197421698
|
|
|
NM_001009944.3(PKD1):c.11813G>A (p.Arg3938Gln)
|
|
|
|
NM_001009944.3(PKD1):c.12244_12245del (p.Leu4082fs)
|
|
|
|
NM_001009944.3(PKD1):c.1328C>T (p.Ala443Val)
|
|
|
|
NM_001009944.3(PKD1):c.2081C>T (p.Pro694Leu)
|
|
|
|
NM_001009944.3(PKD1):c.2670C>T (p.Asn890=)
|
|
|
|
NM_001009944.3(PKD1):c.3568C>T (p.Arg1190Cys)
|
|
|
|
NM_001009944.3(PKD1):c.4946C>T (p.Thr1649Met)
|
|
|
|
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
|
rs1596550396
|
|
|
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)
|
rs1596527370
|
|
|
NM_001009944.3(PKD1):c.8624dup (p.Val2876fs)
|
|
|
|
NM_001009999.3(KDM1A):c.880_881delinsTT (p.Pro294Leu)
|
rs2124467300
|
|
|
NM_001010898.4(SLC6A17):c.1806C>T (p.Ile602=)
|
rs201061830
|
|
|
NM_001010898.4(SLC6A17):c.2018C>A (p.Thr673Asn)
|
rs2100954694
|
|
|
NM_001010898.4(SLC6A17):c.303C>A (p.Pro101=)
|
rs746434391
|
|
|
NM_001011.4(RPS7):c.148-79G>A
|
rs797045922
|
|
|
NM_001011.4(RPS7):c.357-3dup
|
rs140914434
|
|
|
NM_001012339.3(DNAJC21):c.1186-570A>G
|
rs1765288237
|
|
|
NM_001012339.3(DNAJC21):c.1350A>G (p.Glu450=)
|
rs1765321399
|
|
|
NM_001012339.3(DNAJC21):c.402C>T (p.Phe134=)
|
rs1216190669
|
|
|
NM_001012339.3(DNAJC21):c.588G>A (p.Arg196=)
|
rs2112038906
|
|
|
NM_001012339.3(DNAJC21):c.743+10G>A
|
rs371751945
|
|
|
NM_001012339.3(DNAJC21):c.760A>G (p.Arg254Gly)
|
rs1362593821
|
|
|
NM_001012339.3(DNAJC21):c.848C>G (p.Ser283Trp)
|
rs758003234
|
|
|
NM_001014.5(RPS10):c.292dup (p.Arg98fs)
|
rs1765892950
|
|
|
NM_001017420.3(ESCO2):c.648A>G (p.Lys216=)
|
rs587783624
|
|
|
NM_001017420.3(ESCO2):c.760del (p.Thr254fs)
|
rs80359852
|
|
|
NM_001017420.3(ESCO2):c.862-15del
|
rs375159544
|
|
|
NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs)
|
rs797045565
|
|
|
NM_001017420.3(ESCO2):c.911dup (p.Asn304fs)
|
rs797045566
|
|
|
NM_001018113.3(FANCB):c.1105-26TATT[7]
|
rs398123537
|
|
|
NM_001018113.3(FANCB):c.1317T>C (p.Ser439=)
|
rs776802337
|
|
|
NM_001018113.3(FANCB):c.1327-12dup
|
rs202067682
|
|
|
NM_001018113.3(FANCB):c.1497-3dup
|
rs2147391442
|
|
|
NM_001018113.3(FANCB):c.1729A>T (p.Ile577Leu)
|
rs2147390677
|
|
|
NM_001018113.3(FANCB):c.2109A>G (p.Thr703=)
|
rs1555904303
|
|
|
NM_001018113.3(FANCB):c.392A>G (p.Lys131Arg)
|
rs2147446934
|
|
|
NM_001018113.3(FANCB):c.706G>A (p.Val236Met)
|
rs746389250
|
|
|
NM_001018115.3(FANCD2):c.1099-107G>T
|
rs56350437
|
|
|
NM_001018115.3(FANCD2):c.1201del (p.Arg401fs)
|
rs1553608812
|
|
|
NM_001018115.3(FANCD2):c.1414-9C>T
|
rs35557429
|
|
|
NM_001018115.3(FANCD2):c.1445G>T (p.Cys482Phe)
|
rs1265964420
|
|
|
NM_001018115.3(FANCD2):c.1470T>C (p.Asp490=)
|
rs567183176
|
|
|
NM_001018115.3(FANCD2):c.1545+5C>A
|
|
|
|
NM_001018115.3(FANCD2):c.1809C>T (p.Ser603=)
|
|
|
|
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=)
|
rs151224882
|
|
|
NM_001018115.3(FANCD2):c.1947+69del
|
rs797045572
|
|
|
NM_001018115.3(FANCD2):c.2103G>T (p.Pro701=)
|
rs139033444
|
|
|
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)
|
rs758628578
|
|
|
NM_001018115.3(FANCD2):c.2577A>C (p.Ser859=)
|
rs772038476
|
|
|
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)
|
rs56041034
|
|
|
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=)
|
rs200118565
|
|
|
NM_001018115.3(FANCD2):c.3163T>C (p.Tyr1055His)
|
rs1553613571
|
|
|
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter)
|
rs2125072527
|
|
|
NM_001018115.3(FANCD2):c.4274C>A (p.Ala1425Asp)
|
rs1031002548
|
|
|
NM_001018115.3(FANCD2):c.531C>G (p.Val177=)
|
rs747006885
|
|
|
NM_001021.6(RPS17):c.1A>G (p.Met1Val)
|
|
|
|
NM_001022.4(RPS19):c.1-9C>T
|
|
|
|
NM_001022.4(RPS19):c.285C>T (p.Gly95=)
|
rs2123284072
|
|
|
NM_001022.4(RPS19):c.302G>A (p.Arg101His)
|
rs2123284131
|
|
|
NM_001022.4(RPS19):c.302G>C (p.Arg101Pro)
|
rs2123284131
|
|
|
NM_001022.4(RPS19):c.356+3A>C
|
rs1555841379
|
|
|
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr)
|
rs776788131
|
|
|
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del)
|
rs774172072
|
|
|
NM_001024630.4(RUNX2):c.200_201insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAG (p.Glu72fs)
|
rs2150362292
|
|
|
NM_001029.5(RPS26):c.-1G>C
|
rs370598918
|
|
|
NM_001029.5(RPS26):c.266G>C (p.Arg89Pro)
|
rs764673368
|
|
|
NM_001029.5(RPS26):c.333A>C (p.Pro111=)
|
rs1179423823
|
|
|
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)
|
rs797045919
|
|
|
NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp)
|
rs797046100
|
|
|
NM_001029896.2(WDR45):c.342-3C>G
|
rs2147816332
|
|
|
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)
|
rs797046101
|
|
|
NM_001029896.2(WDR45):c.437-27A>C
|
rs201384117
|
|
|
NM_001029896.2(WDR45):c.501del (p.Ser168fs)
|
rs2147815668
|
|
|
NM_001029896.2(WDR45):c.516+1G>T
|
rs797046102
|
|
|
NM_001029896.2(WDR45):c.827+2_827+3del
|
rs797046103
|
|
|
NM_001029896.2(WDR45):c.863G>T (p.Gly288Val)
|
rs797046104
|
|
|
NM_001029896.2(WDR45):c.966dup (p.Val323fs)
|
rs797046105
|
|
|
NM_001032221.6(STXBP1):c.1029+1G>C
|
rs727504173
|
|
|
NM_001032221.6(STXBP1):c.1231T>C (p.Tyr411His)
|
rs797046016
|
|
|
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)
|
rs1462537561
|
|
|
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His)
|
rs587784455
|
|
|
NM_001032221.6(STXBP1):c.575G>A (p.Arg192Gln)
|
rs1434679305
|
|
|
NM_001032221.6(STXBP1):c.635A>G (p.Tyr212Cys)
|
rs1554777372
|
|
|
NM_001032221.6(STXBP1):c.6C>A (p.Ala2=)
|
rs144094037
|
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
|
NM_001032221.6(STXBP1):c.714C>A (p.Asp238Glu)
|
rs587784456
|
|
|
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)
|
rs587784453
|
|
|
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs)
|
rs587784454
|
|
|
NM_001032221.6(STXBP1):c.87+2T>C
|
rs1554775960
|
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
|
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1])
|
rs782547972
|
|
|
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=)
|
rs773115
|
|
|
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)
|
rs786205830
|
|
|
NM_001039591.3(USP9X):c.7431+9dup
|
rs774054468
|
|
|
NM_001040142.2(SCN2A):c.11C>G (p.Ser4Ter)
|
rs1553564144
|
|
|
NM_001040142.2(SCN2A):c.1280C>A (p.Ala427Asp)
|
rs587780448
|
|
|
NM_001040142.2(SCN2A):c.1966C>T (p.Leu656=)
|
rs748739874
|
|
|
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)
|
rs1553579225
|
|
|
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln)
|
rs797045942
|
|
|
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs)
|
rs587780450
|
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
|
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)
|
rs387906684
|
|
|
NM_001040142.2(SCN2A):c.3897T>A (p.Leu1299=)
|
rs1553593036
|
|
|
NM_001040142.2(SCN2A):c.4254+5G>A
|
rs587780451
|
|
|
NM_001040142.2(SCN2A):c.4386C>G (p.Phe1462Leu)
|
rs1701553066
|
|
|
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys)
|
rs1553462134
|
|
|
NM_001040142.2(SCN2A):c.4780T>C (p.Trp1594Arg)
|
rs1057518111
|
|
|
NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro)
|
rs797045943
|
|
|
NM_001040142.2(SCN2A):c.5187A>G (p.Pro1729=)
|
rs587780449
|
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
|
NM_001040142.2(SCN2A):c.916A>T (p.Thr306Ser)
|
rs370114048
|
|
|
NM_001040142.2(SCN2A):c.975C>T (p.His325=)
|
rs1553568322
|
|
|
NM_001040616.3(LINS1):c.1394+4A>G
|
rs200846434
|
|
|
NM_001040616.3(LINS1):c.1632C>T (p.Asn544=)
|
rs772619184
|
|
|
NM_001040616.3(LINS1):c.1912G>A (p.Glu638Lys)
|
rs797045682
|
|
|
NM_001040616.3(LINS1):c.2236A>G (p.Ile746Val)
|
rs587780380
|
|
|
NM_001040616.3(LINS1):c.975G>T (p.Pro325=)
|
rs377267845
|
|
|
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)
|
rs768514713
|
|
|
NM_001040716.2(PC):c.1513+9C>A
|
rs45580638
|
|
|
NM_001042413.2(GLIS3):c.1471G>A (p.Gly491Arg)
|
rs562740663
|
|
|
NM_001042413.2(GLIS3):c.3G>A (p.Met1Ile)
|
rs1198183960
|
|
|
NM_001042413.2(GLIS3):c.728dup (p.Asn244fs)
|
rs2130882939
|
|
|
NM_001042424.3(NSD2):c.4074G>A (p.Trp1358Ter)
|
rs1553881444
|
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
|
NM_001042492.3(NF1):c.1233A>G (p.Val411=)
|
rs2143886403
|
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
|
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp)
|
rs2151426135
|
|
|
NM_001042492.3(NF1):c.2358A>G (p.Gln786=)
|
rs762346437
|
|
|
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile)
|
rs587782772
|
|
|
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter)
|
rs2067091885
|
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
|
NM_001042492.3(NF1):c.3975-7T>C
|
rs2151451258
|
|
|
NM_001042492.3(NF1):c.4045G>T (p.Ala1349Ser)
|
rs1555617332
|
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
|
NM_001042492.3(NF1):c.4174G>A (p.Val1392Met)
|
rs1597744525
|
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
|
NM_001042492.3(NF1):c.4447G>C (p.Ala1483Pro)
|
|
|
|
NM_001042492.3(NF1):c.4626T>C (p.Leu1542=)
|
rs1555619012
|
|
|
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile)
|
rs1567863650
|
|
|
NM_001042492.3(NF1):c.480-7T>C
|
rs2143706752
|
|
|
NM_001042492.3(NF1):c.4947del (p.Pro1650fs)
|
rs2151537841
|
|
|
NM_001042492.3(NF1):c.5335del (p.Phe1778_Leu1779insTer)
|
|
|
|
NM_001042492.3(NF1):c.5427G>A (p.Pro1809=)
|
rs1281695642
|
|
|
NM_001042492.3(NF1):c.5551_5552delinsTT (p.Pro1851Phe)
|
rs2151541748
|
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
|
NM_001042492.3(NF1):c.6227A>G (p.Asp2076Gly)
|
rs1597842820
|
|
|
NM_001042492.3(NF1):c.6352C>G (p.Leu2118Val)
|
rs2151554931
|
|
|
NM_001042492.3(NF1):c.6643-10C>T
|
rs1597844527
|
|
|
NM_001042492.3(NF1):c.7063-9C>G
|
rs1555535398
|
|
|
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val)
|
rs2069866148
|
|
|
NM_001042492.3(NF1):c.7414C>T (p.Pro2472Ser)
|
rs2151574519
|
|
|
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)
|
rs587781791
|
|
|
NM_001042492.3(NF1):c.8303G>T (p.Ser2768Ile)
|
rs2151588087
|
|
|
NM_001042492.3(NF1):c.843_844delinsTT (p.Gln282Ter)
|
rs2143786391
|
|
|
NM_001048166.1(STIL):c.1137T>C (p.Ser379=)
|
rs587784447
|
|
|
NM_001048166.1(STIL):c.1184C>G (p.Ser395Cys)
|
rs1553176425
|
|
|
NM_001048166.1(STIL):c.1452C>G (p.Ser484=)
|
rs10789505
|
|
|
NM_001048166.1(STIL):c.2018GTT[1] (p.Cys674del)
|
rs587784448
|
|
|
NM_001048166.1(STIL):c.2795C>G (p.Pro932Arg)
|
rs763308359
|
|
|
NM_001048166.1(STIL):c.2951C>T (p.Thr984Ile)
|
rs587784450
|
|
|
NM_001048166.1(STIL):c.3067G>A (p.Val1023Met)
|
rs144586803
|
|
|
NM_001048166.1(STIL):c.311G>T (p.Arg104Leu)
|
rs143587840
|
|
|
NM_001048166.1(STIL):c.3486T>G (p.Pro1162=)
|
rs2758735
|
|
|
NM_001048166.1(STIL):c.369G>C (p.Leu123Phe)
|
rs1553181461
|
|
|
NM_001048166.1(STIL):c.895T>A (p.Phe299Ile)
|
rs587784452
|
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
|
NM_001048174.2(MUTYH):c.913G>C (p.Ala305Pro)
|
rs1553127251
|
|
|
NM_001059.3(TACR3):c.1345G>T (p.Ala449Ser)
|
rs17033889
|
|
|
NM_001059.3(TACR3):c.181C>A (p.Pro61Thr)
|
|
|
|
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)
|
rs797046074
|
|
|
NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr)
|
rs1554122911
|
|
|
NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys)
|
rs886037663
|
|
|
NM_001070.5(TUBG1):c.1021C>T (p.Arg341Trp)
|
rs1057518249
|
|
|
NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu)
|
rs1555631383
|
|
|
NM_001077365.2(POMT1):c.123-6_123-5dup
|
rs148086540
|
|
|
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe)
|
rs890463115
|
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
|
NM_001077365.2(POMT1):c.280+7_280+8del
|
rs561658895
|
|
|
NM_001077365.2(POMT1):c.936G>T (p.Gly312=)
|
rs797045897
|
|
|
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
|
|
|
|
NM_001077446.4(TSEN34):c.-33G>C
|
rs587784471
|
|
|
NM_001077446.4(TSEN34):c.268C>G (p.Gln90Glu)
|
rs797046053
|
|
|
NM_001077446.4(TSEN34):c.369G>A (p.Lys123=)
|
rs1471434668
|
|
|
NM_001079668.3(NKX2-1):c.448C>G (p.Pro150Ala)
|
rs1555349335
|
|
|
NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro)
|
rs1555349218
|
|
|
NM_001079802.2(FKTN):c.370-7G>A
|
rs797045577
|
|
|
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys)
|
rs1556200641
|
|
|
NM_001079872.2(CUL4B):c.1859G>T (p.Gly620Val)
|
rs1556199349
|
|
|
NM_001079872.2(CUL4B):c.1869C>T (p.Phe623=)
|
rs1556199319
|
|
|
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln)
|
rs1556173896
|
|
|
NM_001079872.2(CUL4B):c.37GCT[6] (p.Ala17dup)
|
rs746690704
|
|
|
NM_001080.3(ALDH5A1):c.304_315del (p.Val102_Ala105del)
|
rs1554135746
|
|
|
NM_001080.3(ALDH5A1):c.480C>A (p.Ser160=)
|
rs143486700
|
|
|
NM_001080.3(ALDH5A1):c.697A>G (p.Thr233Ala)
|
rs2127382965
|
|
|
NM_001080.3(ALDH5A1):c.726+10T>G
|
rs775722771
|
|
|
NM_001080414.4(CCDC88C):c.1608A>G (p.Arg536=)
|
rs61743971
|
|
|
NM_001080414.4(CCDC88C):c.1675C>T (p.Leu559Phe)
|
rs797045439
|
|
|
NM_001080414.4(CCDC88C):c.3890A>T (p.Gln1297Leu)
|
rs1290225236
|
|
|
NM_001080414.4(CCDC88C):c.5954C>G (p.Ser1985Cys)
|
rs3814839
|
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
|
NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter)
|
rs587777646
|
|
|
NM_001080510.5(METTL23):c.492_495del (p.Glu165fs)
|
rs1228667063
|
|
|
NM_001080517.3(SETD5):c.1441-10T>C
|
rs1553623867
|
|
|
NM_001080517.3(SETD5):c.330-6C>T
|
rs1448139711
|
|
|
NM_001080517.3(SETD5):c.3631+1G>T
|
rs1553640838
|
|
|
NM_001080517.3(SETD5):c.3862G>A (p.Gly1288Ser)
|
rs755607090
|
|
|
NM_001080517.3(SETD5):c.3894C>A (p.Ser1298=)
|
rs535076039
|
|
|
NM_001080517.3(SETD5):c.543A>G (p.Ala181=)
|
rs1471141437
|
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
|
NM_001082486.2(ACD):c.5C>T (p.Ala2Val)
|
rs1349871606
|
|
|
NM_001082486.2(ACD):c.605C>A (p.Pro202His)
|
rs1238004090
|
|
|
NM_001082486.2(ACD):c.645G>T (p.Thr215=)
|
rs571116752
|
|
|
NM_001082486.2(ACD):c.749del (p.Glu250fs)
|
rs2142969929
|
|
|
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)
|
rs797046038
|
|
|
NM_001082538.3(TCTN1):c.843+1del
|
rs797046039
|
|
|
NM_001083116.3(PRF1):c.1164C>A (p.Ser388Arg)
|
rs761607073
|
|
|
NM_001083116.3(PRF1):c.132C>A (p.Ala44=)
|
rs181323749
|
|
|
NM_001083116.3(PRF1):c.311G>A (p.Arg104His)
|
rs139225004
|
|
|
NM_001083116.3(PRF1):c.519G>A (p.Thr173=)
|
rs112883709
|
|
|
NM_001083116.3(PRF1):c.943_949del (p.Leu315fs)
|
rs2132476060
|
|
|
NM_001083961.1(WDR62):c.1959_1960del
|
rs1972523297
|
|
|
NM_001083961.2(WDR62):c.1095G>T (p.Leu365=)
|
rs1555714428
|
|
|
NM_001083961.2(WDR62):c.1233+13C>T
|
rs76130844
|
|
|
NM_001083961.2(WDR62):c.1233+15del
|
rs373693641
|
|
|
NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys)
|
rs587784542
|
|
|
NM_001083961.2(WDR62):c.1315T>G (p.Phe439Val)
|
rs75230537
|
|
|
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=)
|
rs2301734
|
|
|
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=)
|
rs2301734
|
|
|
NM_001083961.2(WDR62):c.1667G>T (p.Ser556Ile)
|
rs780553760
|
|
|
NM_001083961.2(WDR62):c.1681A>T (p.Ile561Phe)
|
rs587784545
|
|
|
NM_001083961.2(WDR62):c.1750A>C (p.Thr584Pro)
|
rs76456648
|
|
|
NM_001083961.2(WDR62):c.186C>G (p.Leu62=)
|
rs11538454
|
|
|
NM_001083961.2(WDR62):c.1963T>A (p.Tyr655Asn)
|
rs2145777243
|
|
|
NM_001083961.2(WDR62):c.2057C>T (p.Thr686Ile)
|
rs797046107
|
|
|
NM_001083961.2(WDR62):c.2084_2090dup (p.Ser698fs)
|
rs587784546
|
|
|
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=)
|
rs115453534
|
|
|
NM_001083961.2(WDR62):c.2334-29C>T
|
rs2301737
|
|
|
NM_001083961.2(WDR62):c.2584G>T (p.Gly862Cys)
|
rs587784548
|
|
|
NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter)
|
rs587784549
|
|
|
NM_001083961.2(WDR62):c.269+12del
|
rs797046108
|
|
|
NM_001083961.2(WDR62):c.2782C>T (p.Leu928=)
|
rs12610991
|
|
|
NM_001083961.2(WDR62):c.2945G>A (p.Ser982Asn)
|
rs11540047
|
|
|
NM_001083961.2(WDR62):c.3012_3034dup (p.Pro1012fs)
|
rs1555723585
|
|
|
NM_001083961.2(WDR62):c.3247G>A (p.Val1083Met)
|
rs375274868
|
|
|
NM_001083961.2(WDR62):c.32G>C (p.Arg11Pro)
|
rs587784552
|
|
|
NM_001083961.2(WDR62):c.332+1G>A
|
rs587784553
|
|
|
NM_001083961.2(WDR62):c.3348del (p.Phe1117fs)
|
rs797046109
|
|
|
NM_001083961.2(WDR62):c.3406C>G (p.Arg1136Gly)
|
rs587784556
|
|
|
NM_001083961.2(WDR62):c.3818C>T (p.Thr1273Ile)
|
rs797046110
|
|
|
NM_001083961.2(WDR62):c.3948G>A (p.Gln1316=)
|
rs4375791
|
|
|
NM_001083961.2(WDR62):c.3954C>T (p.Gly1318=)
|
rs773442664
|
|
|
NM_001083961.2(WDR62):c.4005C>A (p.Ser1335Arg)
|
rs778940951
|
|
|
NM_001083961.2(WDR62):c.4158A>C (p.Ala1386=)
|
rs1470780343
|
|
|
NM_001083961.2(WDR62):c.423T>C (p.Asp141=)
|
rs1174425209
|
|
|
NM_001083961.2(WDR62):c.4381T>G (p.Trp1461Gly)
|
rs61734910
|
|
|
NM_001083961.2(WDR62):c.540G>A (p.Val180=)
|
rs1555712171
|
|
|
NM_001083961.2(WDR62):c.82C>G (p.Arg28Gly)
|
rs200283315
|
|
|
NM_001083961.2(WDR62):c.831C>T (p.Leu277=)
|
rs549410799
|
|
|
NM_001083961.2(WDR62):c.964G>C (p.Ala322Pro)
|
rs587784561
|
|
|
NM_001083962.2(TCF4):c.1059A>G (p.Pro353=)
|
rs1298461061
|
|
|
NM_001083962.2(TCF4):c.1146+1G>A
|
rs587784458
|
|
|
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)
|
rs121909122
|
|
|
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys)
|
rs2145503179
|
|
|
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=)
|
rs552340151
|
|
|
NM_001083962.2(TCF4):c.1350G>A (p.Met450Ile)
|
rs11660217
|
|
|
NM_001083962.2(TCF4):c.1358C>T (p.Thr453Ile)
|
rs1555722683
|
|
|
NM_001083962.2(TCF4):c.1411C>T (p.Gln471Ter)
|
rs797046033
|
|
|
NM_001083962.2(TCF4):c.1498G>T (p.Gly500Ter)
|
rs587784459
|
|
|
NM_001083962.2(TCF4):c.1663G>T (p.Glu555Ter)
|
rs1555711142
|
|
|
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro)
|
rs121909123
|
|
|
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)
|
rs121909121
|
|
|
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe)
|
rs587784460
|
|
|
NM_001083962.2(TCF4):c.1760C>T (p.Ala587Val)
|
rs1555710523
|
|
|
NM_001083962.2(TCF4):c.1777_1779del (p.Arg593del)
|
rs587784461
|
|
|
NM_001083962.2(TCF4):c.1834del (p.His612fs)
|
rs1555710069
|
|
|
NM_001083962.2(TCF4):c.1840G>C (p.Ala614Pro)
|
rs587784462
|
|
|
NM_001083962.2(TCF4):c.1871A>C (p.Gln624Pro)
|
rs797046034
|
|
|
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs)
|
rs797046035
|
|
|
NM_001083962.2(TCF4):c.223A>G (p.Thr75Ala)
|
rs567398278
|
|
|
NM_001083962.2(TCF4):c.415del (p.Leu139fs)
|
rs587784463
|
|
|
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter)
|
rs587784464
|
|
|
NM_001083962.2(TCF4):c.576C>T (p.Ala192=)
|
rs143993583
|
|
|
NM_001083962.2(TCF4):c.642C>T (p.Ser214=)
|
rs982483524
|
|
|
NM_001083962.2(TCF4):c.649A>C (p.Met217Leu)
|
rs768573052
|
|
|
NM_001083962.2(TCF4):c.652C>T (p.Gln218Ter)
|
rs1064796853
|
|
|
NM_001083962.2(TCF4):c.655+1G>A
|
rs587784465
|
|
|
NM_001083962.2(TCF4):c.655+1_655+2dup
|
rs797046036
|
|
|
NM_001083962.2(TCF4):c.656-1G>C
|
rs587784466
|
|
|
NM_001083962.2(TCF4):c.656-3C>T
|
rs587784467
|
|
|
NM_001083962.2(TCF4):c.726G>A (p.Leu242=)
|
rs765833827
|
|
|
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg)
|
rs1555796785
|
|
|
NM_001083962.2(TCF4):c.791del (p.Ser264fs)
|
rs587784468
|
|
|
NM_001083962.2(TCF4):c.890C>T (p.Thr297Met)
|
rs756279357
|
|
|
NM_001083962.2(TCF4):c.990G>A (p.Ser330=)
|
rs587784469
|
|
|
NM_001083962.2(TCF4):c.991-2A>G
|
rs587784470
|
|
|
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile)
|
rs1554042050
|
|
|
NM_001099274.3(TINF2):c.1009G>T (p.Gly337Ter)
|
rs1450775165
|
|
|
NM_001099274.3(TINF2):c.1093A>G (p.Arg365Gly)
|
rs374740382
|
|
|
NM_001099274.3(TINF2):c.1123_1129+1del
|
rs1335513287
|
|
|
NM_001099274.3(TINF2):c.262C>A (p.Pro88Thr)
|
rs2139002944
|
|
|
NM_001099274.3(TINF2):c.83T>A (p.Val28Glu)
|
rs2139004011
|
|
|
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)
|
rs121918545
|
|
|
NM_001099274.3(TINF2):c.845G>A (p.Arg282His)
|
rs121918544
|
|
|
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)
|
rs199422316
|
|
|
NM_001099274.3(TINF2):c.896T>G (p.Val299Gly)
|
rs1050040349
|
|
|
NM_001099922.3(ALG13):c.923T>A (p.Leu308Gln)
|
rs187825159
|
|
|
NM_001099922.3(ALG13):c.933-8C>T
|
rs1556489533
|
|
|
NM_001100.4(ACTA1):c.413T>A (p.Ile138Asn)
|
rs587780271
|
|
|
NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu)
|
rs587780272
|
|
|
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp)
|
rs1553255362
|
|
|
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)
|
rs104894003
|
|
|
NM_001101.5(ACTB):c.587G>A (p.Arg196His)
|
rs281875334
|
|
|
NM_001101.5(ACTB):c.625G>A (p.Val209Met)
|
rs587779777
|
|
|
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr)
|
rs587780273
|
|
|
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met)
|
rs1303411209
|
|
|
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs)
|
rs1554371369
|
|
|
NM_001101426.4(CRPPA):c.979C>G (p.Leu327Val)
|
rs587780361
|
|
|
NM_001102401.4(TTI2):c.168T>C (p.Gly56=)
|
rs780348831
|
|
|
NM_001102401.4(TTI2):c.489del (p.Pro162_Trp163insTer)
|
rs749233205
|
|
|
NM_001102401.4(TTI2):c.980A>G (p.His327Arg)
|
rs1554527020
|
|
|
NM_001102401.4(TTI2):c.98T>G (p.Ile33Ser)
|
rs930230508
|
|
|
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val)
|
rs1554033934
|
|
|
NM_001104631.2(PDE4D):c.1764G>A (p.Met588Ile)
|
rs2153306030
|
|
|
NM_001109809.5(ZFP57):c.194_197dup (p.Val67fs)
|
rs2127547308
|
|
|
NM_001109809.5(ZFP57):c.374G>A (p.Arg125Gln)
|
rs114591600
|
|
|
NM_001109809.5(ZFP57):c.458del (p.Leu153fs)
|
rs748137597
|
|
|
NM_001109809.5(ZFP57):c.722dup (p.Cys241fs)
|
|
|
|
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys)
|
rs782292045
|
|
|
NM_001110556.2(FLNA):c.2945-4A>G
|
rs1557178055
|
|
|
NM_001110556.2(FLNA):c.319G>A (p.Val107Met)
|
rs2148121877
|
|
|
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=)
|
rs183899917
|
|
|
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=)
|
rs201904661
|
|
|
NM_001110556.2(FLNA):c.4818G>A (p.Val1606=)
|
rs2148109762
|
|
|
NM_001110556.2(FLNA):c.5592C>T (p.Asn1864=)
|
rs782315233
|
|
|
NM_001110556.2(FLNA):c.5873T>G (p.Met1958Arg)
|
rs587780336
|
|
|
NM_001110556.2(FLNA):c.6107C>G (p.Pro2036Arg)
|
rs1557176131
|
|
|
NM_001110556.2(FLNA):c.6245del (p.Leu2082fs)
|
rs2148104758
|
|
|
NM_001110556.2(FLNA):c.6263G>A (p.Ser2088Asn)
|
rs797045580
|
|
|
NM_001110556.2(FLNA):c.6502+7G>A
|
rs782202978
|
|
|
NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe)
|
rs1557175878
|
|
|
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=)
|
rs782591917
|
|
|
NM_001110556.2(FLNA):c.7122C>T (p.Ala2374=)
|
rs1557175606
|
|
|
NM_001110792.1:c.384_1164del
|
|
|
|
NM_001110792.2(MECP2):c.-31AG[2]
|
rs587783128
|
|
|
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs)
|
rs1557135418
|
|
|
NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs)
|
rs1557135664
|
|
|
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter)
|
rs267608569
|
|
|
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs)
|
rs267608372
|
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
|
NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs)
|
rs1557134720
|
|
|
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del)
|
rs61753008
|
|
|
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs)
|
rs267608600
|
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
|
NM_001110792.2(MECP2):c.1204C>G (p.Pro402Ala)
|
rs797045690
|
|
|
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer)
|
rs267608609
|
|
|
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter)
|
rs63094662
|
|
|
NM_001110792.2(MECP2):c.1238G>C (p.Ser413Thr)
|
rs62707562
|
|
|
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs)
|
rs267608615
|
|
|
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg)
|
rs797045692
|
|
|
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973
|
|
|
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)
|
rs61753979
|
|
|
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs)
|
rs267608634
|
|
|
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter)
|
rs61754432
|
|
|
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter)
|
rs61754437
|
|
|
NM_001110792.2(MECP2):c.251del (p.Pro84fs)
|
rs61754441
|
|
|
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs)
|
rs797045693
|
|
|
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser)
|
rs61754452
|
|
|
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)
|
rs61754453
|
|
|
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup)
|
rs587783744
|
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
|
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
|
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)
|
rs61748403
|
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
|
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)
|
rs61748408
|
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
|
NM_001110792.2(MECP2):c.542A>G (p.Glu181Gly)
|
rs587783745
|
|
|
NM_001110792.2(MECP2):c.564C>T (p.Pro188=)
|
rs61754420
|
|
|
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.701_707dup (p.Met236fs)
|
rs797045695
|
|
|
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr)
|
rs267608513
|
|
|
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter)
|
rs61749739
|
|
|
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs)
|
rs1557136493
|
|
|
NM_001110792.2(MECP2):c.737C>A (p.Ala246Asp)
|
rs138211345
|
|
|
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)
|
rs61749747
|
|
|
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs)
|
rs267608520
|
|
|
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys)
|
rs141382970
|
|
|
NM_001110792.2(MECP2):c.786C>T (p.Arg262=)
|
rs61748424
|
|
|
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs)
|
rs61749751
|
|
|
NM_001110792.2(MECP2):c.791del (p.Gly264fs)
|
rs61750232
|
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
|
NM_001110792.2(MECP2):c.83_93del (p.Gln28fs)
|
rs797045694
|
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
|
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs)
|
rs1557136146
|
|
|
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg)
|
rs267608533
|
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
|
NM_001110792.2(MECP2):c.92dup (p.Leu33fs)
|
rs267608417
|
|
|
NM_001110792.2(MECP2):c.934_1202del (p.Val312fs)
|
rs1557135666
|
|
|
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg)
|
rs267608550
|
|
|
NM_001110792.2(MECP2):c.94G>C (p.Gly32Arg)
|
rs1557138023
|
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
|
NM_001111077.2(EZR):c.1350A>G (p.Lys450=)
|
rs1031711630
|
|
|
NM_001111077.2(EZR):c.366C>G (p.Ala122=)
|
rs35947532
|
|
|
NM_001111077.2(EZR):c.928C>T (p.Arg310Trp)
|
rs762270034
|
|
|
NM_001111077.2(EZR):c.94C>G (p.Gln32Glu)
|
rs1554273605
|
|
|
NM_001111125.3(IQSEC2):c.1133G>A (p.Arg378His)
|
rs797045626
|
|
|
NM_001111125.3(IQSEC2):c.1626_1630del (p.Pro543fs)
|
rs1556863435
|
|
|
NM_001111125.3(IQSEC2):c.201G>C (p.Leu67=)
|
rs587780359
|
|
|
NM_001111125.3(IQSEC2):c.2658T>A (p.Phe886Leu)
|
rs2147080692
|
|
|
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter)
|
rs1057520858
|
|
|
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter)
|
rs2147027403
|
|
|
NM_001111125.3(IQSEC2):c.3205C>A (p.Arg1069=)
|
rs797045627
|
|
|
NM_001111125.3(IQSEC2):c.3617G>C (p.Gly1206Ala)
|
rs797045628
|
|
|
NM_001111125.3(IQSEC2):c.3753C>T (p.His1251=)
|
rs782399288
|
|
|
NM_001111125.3(IQSEC2):c.4314A>C (p.Pro1438=)
|
rs587780360
|
|
|
NM_001111125.3(IQSEC2):c.4416C>T (p.Pro1472=)
|
rs797045631
|
|
|
NM_001111125.3(IQSEC2):c.942G>A (p.Lys314=)
|
rs1556865007
|
|
|
NM_001111125.3(IQSEC2):c.965G>A (p.Ser322Asn)
|
rs781915659
|
|
|
NM_001113378.2(FANCI):c.1000G>T (p.Val334Phe)
|
rs2151452365
|
|
|
NM_001113378.2(FANCI):c.1241C>T (p.Pro414Leu)
|
rs1555445341
|
|
|
NM_001113378.2(FANCI):c.1404G>A (p.Met468Ile)
|
rs2053602013
|
|
|
NM_001113378.2(FANCI):c.1481A>G (p.Gln494Arg)
|
rs1214081735
|
|
|
NM_001113378.2(FANCI):c.1522A>C (p.Lys508Gln)
|
rs2151558518
|
|
|
NM_001113378.2(FANCI):c.1534T>G (p.Ser512Ala)
|
rs1021545566
|
|
|
NM_001113378.2(FANCI):c.1698+11_1698+14del
|
rs763550734
|
|
|
NM_001113378.2(FANCI):c.1698+4A>G
|
rs1233338671
|
|
|
NM_001113378.2(FANCI):c.2349C>A (p.Asp783Glu)
|
rs768234660
|
|
|
NM_001113378.2(FANCI):c.2457-8C>G
|
rs2151754256
|
|
|
NM_001113378.2(FANCI):c.2536G>A (p.Ala846Thr)
|
rs2151755196
|
|
|
NM_001113378.2(FANCI):c.3059-4dup
|
rs1317953100
|
|
|
NM_001113378.2(FANCI):c.3078G>A (p.Lys1026=)
|
rs2151913000
|
|
|
NM_001113378.2(FANCI):c.3591+4A>T
|
rs774180579
|
|
|
NM_001113378.2(FANCI):c.3622C>T (p.Leu1208=)
|
rs1448880215
|
|
|
NM_001113378.2(FANCI):c.3721-127_3721-126insGTACAA
|
rs55725136
|
|
|
NM_001113378.2(FANCI):c.3948A>G (p.Gly1316=)
|
rs1443770274
|
|
|
NM_001113378.2(FANCI):c.451C>G (p.Leu151Val)
|
rs1350267738
|
|
|
NM_001113378.2(FANCI):c.91A>G (p.Asn31Asp)
|
rs2151219666
|
|
|
NM_001113378.2(FANCI):c.96_98del (p.Leu33del)
|
rs747603151
|
|
|
NM_001114748.2(TMEM240):c.344T>C (p.Val115Ala)
|
rs948435492
|
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
|
NM_001114753.3(ENG):c.1047T>C (p.Thr349=)
|
rs1554810058
|
|
|
NM_001114753.3(ENG):c.1122dup (p.Glu375fs)
|
rs2131885756
|
|
|
NM_001114753.3(ENG):c.1139_1142dup (p.Lys381fs)
|
rs2131879366
|
|
|
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
|
rs1830433526
|
|
|
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)
|
rs1830431553
|
|
|
NM_001114753.3(ENG):c.1429-1G>A
|
rs2131876244
|
|
|
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)
|
rs1060501421
|
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
|
NM_001118887.2(ANGPT2):c.408G>C (p.Ala136=)
|
rs6559167
|
|
|
NM_001118887.2(ANGPT2):c.408G>T (p.Ala136=)
|
rs6559167
|
|
|
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2])
|
rs565544512
|
|
|
NM_001122630.2(CDKN1C):c.486C>G (p.Val162=)
|
rs399771
|
|
|
NM_001122630.2(CDKN1C):c.504CCCGGC[1] (p.168AP[6])
|
rs878853629
|
|
|
NM_001122630.2(CDKN1C):c.546_563del (p.Val184_Pro189del)
|
rs1203797892
|
|
|
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8])
|
rs878853634
|
|
|
NM_001122630.2(CDKN1C):c.567_584del (p.186_187AP[7])
|
rs878853636
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8])
|
rs759134767
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9])
|
rs759134767
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])
|
rs759134767
|
|
|
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter)
|
rs797045445
|
|
|
NM_001122630.2(CDKN1C):c.66C>T (p.Leu22=)
|
rs960994716
|
|
|
NM_001122955.4(BSCL2):c.1005+4G>T
|
rs367731146
|
|
|
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter)
|
rs137852974
|
|
|
NM_001122955.4(BSCL2):c.1085A>T (p.Gln362Leu)
|
rs2134690209
|
|
|
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs)
|
rs1554983076
|
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
|
NM_001123385.2(BCOR):c.1257A>G (p.Lys419=)
|
rs531585800
|
|
|
NM_001123385.2(BCOR):c.1544G>A (p.Ser515Asn)
|
rs1555918870
|
|
|
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=)
|
rs17145652
|
|
|
NM_001123385.2(BCOR):c.1805C>T (p.Pro602Leu)
|
rs766045784
|
|
|
NM_001123385.2(BCOR):c.2199G>T (p.Thr733=)
|
rs140693978
|
|
|
NM_001123385.2(BCOR):c.3305T>C (p.Val1102Ala)
|
rs111622737
|
|
|
NM_001123385.2(BCOR):c.790C>T (p.Pro264Ser)
|
rs1935688006
|
|
|
NM_001126049.2(KLLN):c.-1007C>T
|
rs587780001
|
|
|
NM_001126049.2(KLLN):c.-1027G>T
|
rs1355012894
|
|
|
NM_001126049.2(KLLN):c.-808G>T
|
rs1487906620
|
|
|
NM_001126049.2(KLLN):c.-950G>A
|
rs1064794714
|
|
|
NM_001126049.2(KLLN):c.-951G>A
|
rs1064793240
|
|
|
NM_001126049.2(KLLN):c.-955G>T
|
rs587781128
|
|
|
NM_001126049.2(KLLN):c.131G>C (p.Gly44Ala)
|
rs2132137578
|
|
|
NM_001126049.2(KLLN):c.204C>T (p.Ser68=)
|
rs1858278703
|
|
|
NM_001126049.2(KLLN):c.235C>A (p.Pro79Thr)
|
rs955543891
|
|
|
NM_001126049.2(KLLN):c.342_343del (p.Ala115fs)
|
rs2132136977
|
|
|
NM_001126049.2(KLLN):c.518A>G (p.Lys173Arg)
|
rs2132136585
|
|
|
NM_001126049.2(KLLN):c.58T>C (p.Tyr20His)
|
rs2132137800
|
|
|
NM_001126049.2(KLLN):c.66T>A (p.Val22=)
|
rs1454061325
|
|
|
NM_001126121.2(SLC25A19):c.789G>C (p.Lys263Asn)
|
rs797045968
|
|
|
NM_001126121.2(SLC25A19):c.918C>T (p.Phe306=)
|
rs113513403
|
|
|
NM_001127178.3(PIGG):c.342dup (p.Thr115fs)
|
rs886041687
|
|
|
NM_001127208.3(TET2):c.1386T>C (p.Ser462=)
|
|
|
|
NM_001127208.3(TET2):c.1900T>C (p.Tyr634His)
|
|
|
|
NM_001127208.3(TET2):c.2290dup (p.Gln764fs)
|
|
|
|
NM_001127208.3(TET2):c.2299A>G (p.Asn767Asp)
|
|
|
|
NM_001127208.3(TET2):c.2429A>G (p.Gln810Arg)
|
rs28555446
|
|
|
NM_001127208.3(TET2):c.2633T>G (p.Leu878Arg)
|
rs753055492
|
|
|
NM_001127208.3(TET2):c.3803+5G>A
|
|
|
|
NM_001127208.3(TET2):c.3887A>T (p.Asn1296Ile)
|
|
|
|
NM_001127208.3(TET2):c.4975T>C (p.Tyr1659His)
|
rs2110313413
|
|
|
NM_001127208.3(TET2):c.528T>A (p.Asn176Lys)
|
|
|
|
NM_001127208.3(TET2):c.723G>T (p.Ala241=)
|
rs534182742
|
|
|
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser)
|
rs977960069
|
|
|
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs)
|
rs1555762869
|
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
|
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)
|
rs2144980758
|
|
|
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)
|
rs535900273
|
|
|
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)
|
rs16021
|
|
|
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg)
|
rs763400188
|
|
|
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs)
|
rs746790849
|
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
|
NM_001127222.2(CACNA1A):c.4043G>C (p.Arg1348Pro)
|
rs1057520918
|
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
|
NM_001127222.2(CACNA1A):c.5213T>C (p.Phe1738Ser)
|
rs2144646654
|
|
|
NM_001127222.2(CACNA1A):c.5529-1268C>A
|
rs765557914
|
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
|
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=)
|
rs201991581
|
|
|
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del)
|
rs770368215
|
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
|
NM_001127222.2(CACNA1A):c.6658_6669del (p.Pro2220_Pro2223del)
|
rs2144501445
|
|
|
NM_001127392.3(MYRF):c.2103C>A (p.Arg701=)
|
rs2135856889
|
|
|
NM_001127644.2(GABRA1):c.187G>A (p.Glu63Lys)
|
rs1554084012
|
|
|
NM_001127644.2(GABRA1):c.442A>T (p.Ile148Phe)
|
rs797045590
|
|
|
NM_001127644.2(GABRA1):c.74+9A>T
|
rs41275339
|
|
|
NM_001128126.3(AP4S1):c.21G>A (p.Met7Ile)
|
rs797045251
|
|
|
NM_001128126.3(AP4S1):c.306+4182dup
|
rs766477779
|
|
|
NM_001128126.3(AP4S1):c.306+4214C>A
|
rs1887842697
|
|
|
NM_001128159.3(VPS53):c.1069T>C (p.Phe357Leu)
|
rs2143022932
|
|
|
NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly)
|
rs561656938
|
|
|
NM_001128159.3(VPS53):c.88-2A>G
|
rs1335346154
|
|
|
NM_001128164.2(ATXN1):c.2257C>T (p.Pro753Ser)
|
rs16885
|
|
|
NM_001128164.2(ATXN1):c.588GCA[12] (p.Gln208del)
|
rs193922926
|
|
|
NM_001128164.2(ATXN1):c.633_635del (p.His211del)
|
rs759132871
|
|
|
NM_001128164.2(ATXN1):c.927T>G (p.Ala309=)
|
rs179990
|
|
|
NM_001128178.3(NPHP1):c.1361_1362del (p.Glu454fs)
|
rs1553484094
|
|
|
NM_001128178.3(NPHP1):c.143+1G>A
|
rs745806504
|
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
|
NM_001128178.3(NPHP1):c.771+22A>T
|
rs587780405
|
|
|
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=)
|
rs36061665
|
|
|
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser)
|
rs147146258
|
|
|
NM_001128840.3(CACNA1D):c.4923+3G>A
|
rs2109110418
|
|
|
NM_001128840.3(CACNA1D):c.507G>A (p.Leu169=)
|
rs1042358908
|
|
|
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del)
|
rs72556363
|
|
|
NM_001128840.3(CACNA1D):c.5993C>A (p.Thr1998Asn)
|
rs141581705
|
|
|
NM_001128840.3(CACNA1D):c.6341G>T (p.Arg2114Leu)
|
rs149416995
|
|
|
NM_001130004.2(ACTN1):c.2140C>T (p.Arg714Cys)
|
rs913554480
|
|
|
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys)
|
rs79650677
|
|
|
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln)
|
rs587784432
|
|
|
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=)
|
rs587784433
|
|
|
NM_001130438.3(SPTAN1):c.2438-13T>G
|
rs587784434
|
|
|
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser)
|
rs587784435
|
|
|
NM_001130438.3(SPTAN1):c.3215+15_3215+16del
|
rs551595039
|
|
|
NM_001130438.3(SPTAN1):c.3486C>G (p.Leu1162=)
|
rs2227864
|
|
|
NM_001130438.3(SPTAN1):c.363+1G>A
|
rs1554737064
|
|
|
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr)
|
rs1048236
|
|
|
NM_001130438.3(SPTAN1):c.4272C>T (p.Asp1424=)
|
rs1554757619
|
|
|
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile)
|
rs1129924
|
|
|
NM_001130438.3(SPTAN1):c.5406C>G (p.Thr1802=)
|
rs2227862
|
|
|
NM_001130438.3(SPTAN1):c.5479-5G>A
|
rs1554763238
|
|
|
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly)
|
rs11543346
|
|
|
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)
|
rs72758823
|
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
|
NM_001130438.3(SPTAN1):c.651+37A>C
|
rs2297769
|
|
|
NM_001130438.3(SPTAN1):c.6574A>G (p.Lys2192Glu)
|
rs2131969031
|
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
|
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu)
|
rs1554769022
|
|
|
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro)
|
rs796053298
|
|
|
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=)
|
rs34387018
|
|
|
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)
|
rs115849497
|
|
|
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.4865A>G (p.Tyr1622Cys)
|
rs797045541
|
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
|
NM_001134407.3(GRIN2A):c.1329-7dup
|
rs1455515948
|
|
|
NM_001134407.3(GRIN2A):c.1374G>A (p.Gly458=)
|
rs368221866
|
|
|
NM_001134407.3(GRIN2A):c.1667C>T (p.Ser556Phe)
|
rs587780349
|
|
|
NM_001134407.3(GRIN2A):c.19dup (p.Trp7fs)
|
rs2142391531
|
|
|
NM_001134407.3(GRIN2A):c.3064C>A (p.Arg1022Ser)
|
rs560057284
|
|
|
NM_001134407.3(GRIN2A):c.3246C>G (p.Thr1082=)
|
rs143039009
|
|
|
NM_001134407.3(GRIN2A):c.3468A>T (p.Glu1156Asp)
|
rs778180100
|
|
|
NM_001134407.3(GRIN2A):c.3544G>T (p.Asp1182Tyr)
|
rs375160358
|
|
|
NM_001134407.3(GRIN2A):c.3553A>G (p.Lys1185Glu)
|
rs587780354
|
|
|
NM_001134407.3(GRIN2A):c.3701del (p.Phe1234fs)
|
rs886041308
|
|
|
NM_001134407.3(GRIN2A):c.3785C>T (p.Thr1262Ile)
|
rs587780351
|
|
|
NM_001134407.3(GRIN2A):c.4081C>G (p.His1361Asp)
|
rs797045606
|
|
|
NM_001134407.3(GRIN2A):c.415G>T (p.Asp139Tyr)
|
rs1555455852
|
|
|
NM_001134407.3(GRIN2A):c.420G>A (p.Pro140=)
|
rs367543126
|
|
|
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453
|
|
|
NM_001134665.3(TRMT10A):c.206G>A (p.Arg69His)
|
rs147815779
|
|
|
NM_001134665.3(TRMT10A):c.465T>A (p.Asp155Glu)
|
rs1045468807
|
|
|
NM_001134665.3(TRMT10A):c.837T>A (p.Val279=)
|
rs1553923810
|
|
|
NM_001134665.3(TRMT10A):c.866_868del (p.Ser289_His290delinsTyr)
|
rs1553923807
|
|
|
NM_001134673.4(NFIA):c.1255-9_1255-8insA
|
rs777624713
|
|
|
NM_001134673.4(NFIA):c.1413G>A (p.Thr471=)
|
rs146012018
|
|
|
NM_001134673.4(NFIA):c.297dup (p.Pro100fs)
|
rs1553149202
|
|
|
NM_001134831.2(AHI1):c.1253C>A (p.Pro418Gln)
|
rs2128077398
|
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
|
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
|
rs797045224
|
|
|
NM_001134831.2(AHI1):c.3486-10C>T
|
|
|
|
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile)
|
rs777420094
|
|
|
NM_001141980.3(TP53BP1):c.*3580_*3581del
|
rs2142896980
|
|
|
NM_001142633.3(PIK3R5):c.583A>G (p.Thr195Ala)
|
rs797045887
|
|
|
NM_001143979.1(NDE1):c.238_240del
|
rs797045733
|
|
|
NM_001143992.2(WRAP53):c.1019A>G (p.Tyr340Cys)
|
rs1555530889
|
|
|
NM_001143992.2(WRAP53):c.1501C>G (p.Pro501Ala)
|
rs1861948
|
|
|
NM_001143992.2(WRAP53):c.1558G>T (p.Gly520Trp)
|
rs146634933
|
|
|
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs)
|
rs755116516
|
|
|
NM_001143992.2(WRAP53):c.335G>A (p.Ser112Asn)
|
rs766695794
|
|
|
NM_001143992.2(WRAP53):c.431C>G (p.Thr144Ser)
|
rs1156897458
|
|
|
NM_001143992.2(WRAP53):c.615G>A (p.Glu205=)
|
rs750517279
|
|
|
NM_001143992.2(WRAP53):c.729C>A (p.Ser243=)
|
rs570343418
|
|
|
NM_001145306.2(CDK6):c.775G>A (p.Ala259Thr)
|
rs772153440
|
|
|
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)
|
rs2307890
|
|
|
NM_001160372.4(TRAPPC9):c.1173C>T (p.Leu391=)
|
rs547129477
|
|
|
NM_001160372.4(TRAPPC9):c.1294C>A (p.Leu432Ile)
|
rs1554676260
|
|
|
NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=)
|
rs145960296
|
|
|
NM_001160372.4(TRAPPC9):c.1533G>A (p.Thr511=)
|
rs750274973
|
|
|
NM_001160372.4(TRAPPC9):c.1634T>G (p.Leu545Arg)
|
rs2131826248
|
|
|
NM_001160372.4(TRAPPC9):c.1745G>C (p.Gly582Ala)
|
rs797046048
|
|
|
NM_001160372.4(TRAPPC9):c.2540A>C (p.Asp847Ala)
|
rs587780482
|
|
|
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg)
|
rs550423753
|
|
|
NM_001160372.4(TRAPPC9):c.26G>A (p.Cys9Tyr)
|
rs932408437
|
|
|
NM_001160372.4(TRAPPC9):c.291G>C (p.Glu97Asp)
|
rs1554689955
|
|
|
NM_001160372.4(TRAPPC9):c.2971C>T (p.Leu991=)
|
rs1829987688
|
|
|
NM_001160372.4(TRAPPC9):c.3225C>A (p.Tyr1075Ter)
|
rs58740567
|
|
|
NM_001160372.4(TRAPPC9):c.3225C>T (p.Tyr1075=)
|
rs58740567
|
|
|
NM_001160372.4(TRAPPC9):c.3292G>C (p.Gly1098Arg)
|
rs536787964
|
|
|
NM_001160372.4(TRAPPC9):c.3325C>A (p.Leu1109Ile)
|
rs371403079
|
|
|
NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs)
|
rs1174482090
|
|
|
NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs)
|
rs1554689877
|
|
|
NM_001160372.4(TRAPPC9):c.584G>C (p.Arg195Thr)
|
rs1554689856
|
|
|
NM_001160372.4(TRAPPC9):c.653T>A (p.Met218Lys)
|
rs797046050
|
|
|
NM_001160372.4(TRAPPC9):c.938G>A (p.Arg313His)
|
rs757159552
|
|
|
NM_001161352.2(KCNMA1):c.2363_2369del (p.His788fs)
|
rs2152988950
|
|
|
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del)
|
rs587780364
|
|
|
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=)
|
rs1045794
|
|
|
NM_001163809.2(WDR81):c.656T>A (p.Leu219Ter)
|
rs540651230
|
|
|
NM_001164508.2(NEB):c.1471-1G>A
|
rs1553605995
|
|
|
NM_001164508.2(NEB):c.14734A>G (p.Asn4912Asp)
|
rs10909569
|
|
|
NM_001164508.2(NEB):c.18597del (p.Tyr6200fs)
|
rs797045735
|
|
|
NM_001164508.2(NEB):c.18997-10T>C
|
rs4544436
|
|
|
NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs)
|
rs587780397
|
|
|
NM_001164508.2(NEB):c.19967G>C (p.Arg6656Pro)
|
rs767200761
|
|
|
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=)
|
rs149510427
|
|
|
NM_001164508.2(NEB):c.23649+10_23649+11del
|
rs772001300
|
|
|
NM_001164508.2(NEB):c.23836-2A>G
|
rs2153104173
|
|
|
NM_001164508.2(NEB):c.244A>G (p.Met82Val)
|
rs587780398
|
|
|
NM_001164508.2(NEB):c.24996del (p.Gln8333fs)
|
rs1553526884
|
|
|
NM_001164508.2(NEB):c.2499del (p.Ala834fs)
|
rs1553564693
|
|
|
NM_001164508.2(NEB):c.3567+1G>A
|
rs587780399
|
|
|
NM_001164508.2(NEB):c.3774+1G>A
|
rs111293259
|
|
|
NM_001164508.2(NEB):c.902_903delinsAT (p.Arg301Asn)
|
rs2099741678
|
|
|
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)
|
rs121917957
|
|
|
NM_001165963.4(SCN1A):c.1201A>G (p.Ile401Val)
|
rs1697908394
|
|
|
NM_001165963.4(SCN1A):c.2815C>G (p.His939Asp)
|
rs121918736
|
|
|
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)
|
rs121918775
|
|
|
NM_001165963.4(SCN1A):c.3538T>C (p.Cys1180Arg)
|
rs1574069096
|
|
|
NM_001165963.4(SCN1A):c.3705+10del
|
rs570862962
|
|
|
NM_001165963.4(SCN1A):c.3723_3726del (p.Ile1240_Tyr1241insTer)
|
rs1553531385
|
|
|
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)
|
rs794726825
|
|
|
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)
|
rs794726754
|
|
|
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)
|
rs121918777
|
|
|
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser)
|
rs797045940
|
|
|
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)
|
rs121918751
|
|
|
NM_001165963.4(SCN1A):c.5632G>C (p.Glu1878Gln)
|
rs148703212
|
|
|
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs)
|
rs587780446
|
|
|
NM_001165963.4(SCN1A):c.719T>C (p.Leu240Pro)
|
rs797045941
|
|
|
NM_001165963.4(SCN1A):c.756C>T (p.Ile252=)
|
rs587780447
|
|
|
NM_001166290.2(KCNJ11):c.-17+477_-17+478delinsTT
|
rs2133381941
|
|
|
NM_001170535.3(ATAD3A):c.1748_1753delinsAACCCT (p.Pro583_Pro585delinsGlnProSer)
|
rs2100691879
|
|
|
NM_001171613.2(PREPL):c.1790C>T (p.Pro597Leu)
|
rs1305157753
|
|
|
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)
|
rs1553538919
|
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
|
NM_001174096.2(ZEB1):c.1579dup (p.Val527fs)
|
rs766305306
|
|
|
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=)
|
rs747643987
|
|
|
NM_001184.4(ATR):c.1327A>T (p.Arg443Ter)
|
rs2108485039
|
|
|
NM_001184.4(ATR):c.3120G>A (p.Leu1040=)
|
rs28910272
|
|
|
NM_001184.4(ATR):c.3497A>C (p.His1166Pro)
|
rs201438783
|
|
|
NM_001184.4(ATR):c.3614A>G (p.His1205Arg)
|
rs1553767201
|
|
|
NM_001184.4(ATR):c.3971_3974del (p.Asp1324fs)
|
rs2108399800
|
|
|
NM_001184.4(ATR):c.4626AGA[1] (p.Glu1543del)
|
rs755543843
|
|
|
NM_001184.4(ATR):c.4641+1G>T
|
rs797045403
|
|
|
NM_001184.4(ATR):c.4852+21C>T
|
rs587783332
|
|
|
NM_001184.4(ATR):c.5007T>C (p.Ile1669=)
|
rs2108361083
|
|
|
NM_001184.4(ATR):c.5196+1G>A
|
rs1553760567
|
|
|
NM_001184.4(ATR):c.5739-11_5739-4del
|
rs797045404
|
|
|
NM_001184.4(ATR):c.5739-14G>T
|
rs587783335
|
|
|
NM_001184.4(ATR):c.6432A>G (p.Gln2144=)
|
rs376533466
|
|
|
NM_001184.4(ATR):c.7859T>C (p.Val2620Ala)
|
rs2108242274
|
|
|
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe)
|
rs587784296
|
|
|
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)
|
rs796052836
|
|
|
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=)
|
rs754570811
|
|
|
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu)
|
rs371109150
|
|
|
NM_001184880.2(PCDH19):c.3367C>T (p.His1123Tyr)
|
rs2147445531
|
|
|
NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=)
|
rs1555972516
|
|
|
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His)
|
rs796052797
|
|
|
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter)
|
rs797045873
|
|
|
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe)
|
rs587784297
|
|
|
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile)
|
rs587784299
|
|
|
NM_001184880.2(PCDH19):c.717C>G (p.Ser239Arg)
|
rs199628956
|
|
|
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr)
|
rs587784300
|
|
|
NM_001190417.2(ZNF674):c.1202T>C (p.Ile401Thr)
|
rs587780526
|
|
|
NM_001191061.2(SLC25A22):c.*34A>G
|
rs74994790
|
|
|
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter)
|
rs1554965669
|
|
|
NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter)
|
rs797045969
|
|
|
NM_001194998.2(CEP152):c.1329A>G (p.Val443=)
|
rs587783415
|
|
|
NM_001194998.2(CEP152):c.1516A>G (p.Thr506Ala)
|
rs587783416
|
|
|
NM_001194998.2(CEP152):c.1549G>C (p.Val517Leu)
|
rs1555424276
|
|
|
NM_001194998.2(CEP152):c.1577+3A>G
|
rs1196921831
|
|
|
NM_001194998.2(CEP152):c.1768A>G (p.Ser590Gly)
|
rs75994436
|
|
|
NM_001194998.2(CEP152):c.1769G>A (p.Ser590Asn)
|
rs76252090
|
|
|
NM_001194998.2(CEP152):c.2517C>T (p.Leu839=)
|
rs566937763
|
|
|
NM_001194998.2(CEP152):c.2679del (p.Ser894fs)
|
rs587783421
|
|
|
NM_001194998.2(CEP152):c.3014A>T (p.Lys1005Ile)
|
rs587783422
|
|
|
NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs)
|
rs869312853
|
|
|
NM_001194998.2(CEP152):c.3016del (p.Thr1006fs)
|
rs587783423
|
|
|
NM_001194998.2(CEP152):c.3071G>T (p.Arg1024Leu)
|
rs199914670
|
|
|
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)
|
rs1555418825
|
|
|
NM_001194998.2(CEP152):c.3880G>A (p.Glu1294Lys)
|
rs12441978
|
|
|
NM_001194998.2(CEP152):c.3989+12C>T
|
rs59594811
|
|
|
NM_001194998.2(CEP152):c.4213A>G (p.Thr1405Ala)
|
rs2140546380
|
|
|
NM_001194998.2(CEP152):c.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe)
|
rs797045455
|
|
|
NM_001194998.2(CEP152):c.4433A>T (p.Lys1478Met)
|
rs2140543971
|
|
|
NM_001194998.2(CEP152):c.4625T>A (p.Met1542Lys)
|
rs587783426
|
|
|
NM_001194998.2(CEP152):c.5079G>A (p.Pro1693=)
|
rs577873248
|
|
|
NM_001194998.2(CEP152):c.5128G>A (p.Asp1710Asn)
|
rs1892703145
|
|
|
NM_001194998.2(CEP152):c.87+26_87+27del
|
rs372967874
|
|
|
NM_001194998.2(CEP152):c.87+9dup
|
rs1555429164
|
|
|
NM_001194998.2(CEP152):c.981G>A (p.Lys327=)
|
rs17339589
|
|
|
NM_001195248.2(APTX):c.875-2A>G
|
rs904293109
|
|
|
NM_001195553.2(DCX):c.1045-2A>G
|
rs587783518
|
|
|
NM_001195553.2(DCX):c.1045G>C (p.Asp349His)
|
rs1556364322
|
|
|
NM_001195553.2(DCX):c.115C>T (p.Arg39Ter)
|
rs587783519
|
|
|
NM_001195553.2(DCX):c.124del (p.Thr42fs)
|
rs587783520
|
|
|
NM_001195553.2(DCX):c.128T>C (p.Leu43Ser)
|
rs587783521
|
|
|
NM_001195553.2(DCX):c.130C>T (p.Gln44Ter)
|
rs587783522
|
|
|
NM_001195553.2(DCX):c.150G>T (p.Lys50Asn)
|
rs587783523
|
|
|
NM_001195553.2(DCX):c.151_154del (p.Lys51fs)
|
rs587783524
|
|
|
NM_001195553.2(DCX):c.167G>C (p.Arg56Pro)
|
rs587783525
|
|
|
NM_001195553.2(DCX):c.170T>G (p.Phe57Cys)
|
rs587783526
|
|
|
NM_001195553.2(DCX):c.176G>A (p.Arg59His)
|
rs122457137
|
|
|
NM_001195553.2(DCX):c.182G>A (p.Gly61Glu)
|
rs587783527
|
|
|
NM_001195553.2(DCX):c.185A>G (p.Asp62Gly)
|
rs587783528
|
|
|
NM_001195553.2(DCX):c.187C>T (p.Arg63Cys)
|
rs587783529
|
|
|
NM_001195553.2(DCX):c.191A>G (p.Tyr64Cys)
|
rs587783530
|
|
|
NM_001195553.2(DCX):c.195C>A (p.Phe65Leu)
|
rs587783531
|
|
|
NM_001195553.2(DCX):c.210C>A (p.Tyr70Ter)
|
rs587783532
|
|
|
NM_001195553.2(DCX):c.218C>T (p.Ser73Phe)
|
rs587783533
|
|
|
NM_001195553.2(DCX):c.226C>T (p.Arg76Cys)
|
rs587783534
|
|
|
NM_001195553.2(DCX):c.232C>T (p.Arg78Cys)
|
rs587783535
|
|
|
NM_001195553.2(DCX):c.233G>T (p.Arg78Leu)
|
rs104894784
|
|
|
NM_001195553.2(DCX):c.23_24del (p.His7_Phe8insTer)
|
rs797045510
|
|
|
NM_001195553.2(DCX):c.265C>T (p.Arg89Ter)
|
rs104894785
|
|
|
NM_001195553.2(DCX):c.266G>C (p.Arg89Pro)
|
rs61729440
|
|
|
NM_001195553.2(DCX):c.272T>C (p.Leu91Pro)
|
rs587783536
|
|
|
NM_001195553.2(DCX):c.280A>G (p.Asn94Asp)
|
rs797045512
|
|
|
NM_001195553.2(DCX):c.290T>G (p.Leu97Arg)
|
rs587783537
|
|
|
NM_001195553.2(DCX):c.299G>A (p.Gly100Glu)
|
rs587783538
|
|
|
NM_001195553.2(DCX):c.299G>T (p.Gly100Val)
|
rs587783538
|
|
|
NM_001195553.2(DCX):c.2T>C (p.Met1Thr)
|
rs587783539
|
|
|
NM_001195553.2(DCX):c.301G>A (p.Val101Met)
|
rs587783540
|
|
|
NM_001195553.2(DCX):c.304C>T (p.Arg102Cys)
|
rs587783541
|
|
|
NM_001195553.2(DCX):c.305G>A (p.Arg102His)
|
rs267606317
|
|
|
NM_001195553.2(DCX):c.310A>T (p.Ile104Phe)
|
rs201870761
|
|
|
NM_001195553.2(DCX):c.313_315dup (p.Tyr105dup)
|
rs797045513
|
|
|
NM_001195553.2(DCX):c.337A>T (p.Ile113Phe)
|
rs587783542
|
|
|
NM_001195553.2(DCX):c.339dup (p.Gly114fs)
|
rs797045514
|
|
|
NM_001195553.2(DCX):c.355_356del (p.Leu119fs)
|
rs1556404991
|
|
|
NM_001195553.2(DCX):c.364G>A (p.Gly122Arg)
|
rs587783544
|
|
|
NM_001195553.2(DCX):c.377T>A (p.Val126Asp)
|
rs587783546
|
|
|
NM_001195553.2(DCX):c.380G>A (p.Cys127Tyr)
|
rs587783547
|
|
|
NM_001195553.2(DCX):c.386C>T (p.Ser129Leu)
|
rs587783548
|
|
|
NM_001195553.2(DCX):c.391_393del (p.Asn131del)
|
rs587783549
|
|
|
NM_001195553.2(DCX):c.409G>T (p.Glu137Ter)
|
rs587783550
|
|
|
NM_001195553.2(DCX):c.412T>C (p.Tyr138His)
|
rs587783551
|
|
|
NM_001195553.2(DCX):c.413A>G (p.Tyr138Cys)
|
rs587783552
|
|
|
NM_001195553.2(DCX):c.451A>G (p.Lys151Glu)
|
rs587783553
|
|
|
NM_001195553.2(DCX):c.451A>T (p.Lys151Ter)
|
rs587783553
|
|
|
NM_001195553.2(DCX):c.478C>T (p.Gln160Ter)
|
rs587783554
|
|
|
NM_001195553.2(DCX):c.478_479del (p.Gln160fs)
|
rs587783555
|
|
|
NM_001195553.2(DCX):c.494_504del (p.Ser165fs)
|
rs587783556
|
|
|
NM_001195553.2(DCX):c.520A>G (p.Lys174Glu)
|
rs587783557
|
|
|
NM_001195553.2(DCX):c.528del (p.Phe176fs)
|
rs797045515
|
|
|
NM_001195553.2(DCX):c.532C>G (p.Arg178Gly)
|
rs587783558
|
|
|
NM_001195553.2(DCX):c.532C>T (p.Arg178Cys)
|
rs587783558
|
|
|
NM_001195553.2(DCX):c.533G>T (p.Arg178Leu)
|
rs587783559
|
|
|
NM_001195553.2(DCX):c.534C>T (p.Arg178=)
|
rs1233974245
|
|
|
NM_001195553.2(DCX):c.538A>G (p.Lys180Glu)
|
rs587783560
|
|
|
NM_001195553.2(DCX):c.544G>T (p.Val182Phe)
|
rs1556401951
|
|
|
NM_001195553.2(DCX):c.551T>A (p.Ile184Asn)
|
rs587783561
|
|
|
NM_001195553.2(DCX):c.556C>T (p.Arg186Cys)
|
rs587783562
|
|
|
NM_001195553.2(DCX):c.557G>A (p.Arg186His)
|
rs587783563
|
|
|
NM_001195553.2(DCX):c.557G>T (p.Arg186Leu)
|
rs587783563
|
|
|
NM_001195553.2(DCX):c.55C>T (p.Arg19Ter)
|
rs587783564
|
|
|
NM_001195553.2(DCX):c.571C>A (p.Pro191Thr)
|
rs587783565
|
|
|
NM_001195553.2(DCX):c.572C>G (p.Pro191Arg)
|
rs587783566
|
|
|
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp)
|
rs104894780
|
|
|
NM_001195553.2(DCX):c.578_585del (p.Lys193fs)
|
rs587783567
|
|
|
NM_001195553.2(DCX):c.578del (p.Lys193fs)
|
rs797045516
|
|
|
NM_001195553.2(DCX):c.586C>A (p.Arg196Ser)
|
rs587783568
|
|
|
NM_001195553.2(DCX):c.586C>G (p.Arg196Gly)
|
rs587783568
|
|
|
NM_001195553.2(DCX):c.586C>T (p.Arg196Cys)
|
rs587783568
|
|
|
NM_001195553.2(DCX):c.596T>C (p.Leu199Pro)
|
rs587783569
|
|
|
NM_001195553.2(DCX):c.607A>G (p.Thr203Ala)
|
rs587783570
|
|
|
NM_001195553.2(DCX):c.608C>A (p.Thr203Lys)
|
rs104894782
|
|
|
NM_001195553.2(DCX):c.611C>A (p.Ala204Asp)
|
rs587783571
|
|
|
NM_001195553.2(DCX):c.614A>T (p.His205Leu)
|
rs587783572
|
|
|
NM_001195553.2(DCX):c.628G>T (p.Val210Phe)
|
rs587783573
|
|
|
NM_001195553.2(DCX):c.641T>C (p.Ile214Thr)
|
rs587783574
|
|
|
NM_001195553.2(DCX):c.651del (p.Ile218fs)
|
rs587783575
|
|
|
NM_001195553.2(DCX):c.666del (p.Val224fs)
|
rs587783576
|
|
|
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg)
|
rs587783577
|
|
|
NM_001195553.2(DCX):c.670del (p.Val224fs)
|
rs587783578
|
|
|
NM_001195553.2(DCX):c.681del (p.Lys227fs)
|
rs587783579
|
|
|
NM_001195553.2(DCX):c.681dup (p.Leu228fs)
|
rs587783579
|
|
|
NM_001195553.2(DCX):c.683T>C (p.Leu228Pro)
|
rs587783580
|
|
|
NM_001195553.2(DCX):c.684_685del (p.Tyr229fs)
|
rs1556401744
|
|
|
NM_001195553.2(DCX):c.685_699dup (p.Tyr229_Gly233dup)
|
rs797045518
|
|
|
NM_001195553.2(DCX):c.688A>C (p.Thr230Pro)
|
rs587783581
|
|
|
NM_001195553.2(DCX):c.705+1del
|
rs1556401725
|
|
|
NM_001195553.2(DCX):c.724T>A (p.Phe242Ile)
|
rs587783582
|
|
|
NM_001195553.2(DCX):c.734ATG[2] (p.Asp247del)
|
rs587783583
|
|
|
NM_001195553.2(DCX):c.746T>G (p.Phe249Cys)
|
rs587783584
|
|
|
NM_001195553.2(DCX):c.751G>T (p.Ala251Ser)
|
rs587783585
|
|
|
NM_001195553.2(DCX):c.766A>T (p.Lys256Ter)
|
rs587783586
|
|
|
NM_001195553.2(DCX):c.773G>C (p.Arg258Pro)
|
rs587783587
|
|
|
NM_001195553.2(DCX):c.781C>T (p.Gln261Ter)
|
rs587783588
|
|
|
NM_001195553.2(DCX):c.809-1G>A
|
rs587783589
|
|
|
NM_001195553.2(DCX):c.809-3C>T
|
rs867300590
|
|
|
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter)
|
rs587783590
|
|
|
NM_001195553.2(DCX):c.81_85dup (p.Pro29fs)
|
rs797045519
|
|
|
NM_001195553.2(DCX):c.853A>T (p.Lys285Ter)
|
rs587783591
|
|
|
NM_001195553.2(DCX):c.875dup (p.Thr293fs)
|
rs797045520
|
|
|
NM_001195553.2(DCX):c.907C>T (p.Arg303Ter)
|
rs587783592
|
|
|
NM_001195553.2(DCX):c.95G>A (p.Ser32Asn)
|
rs587783593
|
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
|
NM_001197104.2(KMT2A):c.10178T>C (p.Leu3393Pro)
|
rs1555048205
|
|
|
NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter)
|
rs782477344
|
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
|
NM_001197104.2(KMT2A):c.2569G>T (p.Glu857Ter)
|
rs2134270387
|
|
|
NM_001197104.2(KMT2A):c.2673_2674del (p.Arg893fs)
|
rs587783676
|
|
|
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln)
|
rs1131691799
|
|
|
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr)
|
rs1131691503
|
|
|
NM_001197104.2(KMT2A):c.4426T>A (p.Cys1476Ser)
|
rs587783677
|
|
|
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter)
|
rs587783678
|
|
|
NM_001197104.2(KMT2A):c.6158+6T>C
|
rs1555045177
|
|
|
NM_001197104.2(KMT2A):c.6811del (p.Arg2271fs)
|
rs797045656
|
|
|
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter)
|
rs587783679
|
|
|
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)
|
rs587783680
|
|
|
NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro)
|
rs1555047266
|
|
|
NM_001199107.2(TBC1D24):c.965+38T>G
|
rs571500991
|
|
|
NM_001199397.3(NEK1):c.2588-12_2588-11del
|
rs374055570
|
|
|
NM_001205254.2(OCLN):c.1037+5G>A
|
rs797045840
|
|
|
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs)
|
rs797045841
|
|
|
NM_001205254.2(OCLN):c.4T>C (p.Ser2Pro)
|
rs113706384
|
|
|
NM_001206744.2(TPO):c.1099G>A (p.Val367Met)
|
rs1310058170
|
|
|
NM_001206999.2(CIT):c.1121C>G (p.Pro374Arg)
|
rs200052993
|
|
|
NM_001206999.2(CIT):c.1483G>T (p.Ala495Ser)
|
rs2137704651
|
|
|
NM_001206999.2(CIT):c.4068C>T (p.Ile1356=)
|
rs56006347
|
|
|
NM_001211.6(BUB1B):c.1584del (p.Ser529fs)
|
rs2140901858
|
|
|
NM_001242.5(CD27):c.1A>G (p.Met1Val)
|
|
|
|
NM_001242.5(CD27):c.37G>A (p.Gly13Arg)
|
rs146726863
|
|
|
NM_001242896.3(DEPDC5):c.2543A>T (p.Glu848Val)
|
rs768781316
|
|
|
NM_001242896.3(DEPDC5):c.4106G>A (p.Trp1369Ter)
|
rs2149378392
|
|
|
NM_001242908.2(RSPO1):c.741GCA[5] (p.Gln251dup)
|
rs563949840
|
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
|
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His)
|
rs1553633823
|
|
|
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)
|
rs141052770
|
|
|
NM_001244008.2(KIF1A):c.2089GAG[6] (p.Glu701dup)
|
rs771003443
|
|
|
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del)
|
rs10594016
|
|
|
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=)
|
rs73102625
|
|
|
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=)
|
rs73102625
|
|
|
NM_001244008.2(KIF1A):c.311C>T (p.Ser104Phe)
|
rs1553639010
|
|
|
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=)
|
rs373045276
|
|
|
NM_001244008.2(KIF1A):c.3219CCT[2] (p.Leu1076del)
|
rs1167417315
|
|
|
NM_001244008.2(KIF1A):c.3669G>A (p.Thr1223=)
|
rs371491091
|
|
|
NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)
|
rs572923181
|
|
|
NM_001244008.2(KIF1A):c.4794A>T (p.Leu1598=)
|
rs753060457
|
|
|
NM_001244008.2(KIF1A):c.4812C>T (p.Thr1604=)
|
rs76974316
|
|
|
NM_001244008.2(KIF1A):c.5021+1G>C
|
rs797045653
|
|
|
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)
|
rs527977882
|
|
|
NM_001244008.2(KIF1A):c.53G>A (p.Arg18Gln)
|
rs1056534650
|
|
|
NM_001244008.2(KIF1A):c.666C>T (p.Asn222=)
|
rs797045654
|
|
|
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)
|
rs797045655
|
|
|
NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly)
|
rs369692236
|
|
|
NM_001247997.2(CLIP1):c.1146G>A (p.Thr382=)
|
rs751868310
|
|
|
NM_001247997.2(CLIP1):c.1155G>T (p.Val385=)
|
rs138064731
|
|
|
NM_001247997.2(CLIP1):c.1608T>A (p.Asn536Lys)
|
rs2136344211
|
|
|
NM_001247997.2(CLIP1):c.1614T>C (p.Pro538=)
|
rs549426099
|
|
|
NM_001247997.2(CLIP1):c.2229G>A (p.Lys743=)
|
rs757189888
|
|
|
NM_001247997.2(CLIP1):c.3097A>T (p.Thr1033Ser)
|
rs1555264879
|
|
|
NM_001247997.2(CLIP1):c.3414C>G (p.Asn1138Lys)
|
rs532538060
|
|
|
NM_001247997.2(CLIP1):c.3709A>T (p.Ile1237Leu)
|
rs1566069686
|
|
|
NM_001247997.2(CLIP1):c.3967-11dup
|
rs376224001
|
|
|
NM_001247997.2(CLIP1):c.684C>A (p.Val228=)
|
rs769477406
|
|
|
NM_001253852.3(AP4B1):c.-35G>C
|
rs587783177
|
|
|
NM_001253852.3(AP4B1):c.114-10C>T
|
rs200301524
|
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
|
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs)
|
rs1553257236
|
|
|
NM_001253852.3(AP4B1):c.1703G>A (p.Gly568Asp)
|
rs759495705
|
|
|
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)
|
rs797045244
|
|
|
NM_001253852.3(AP4B1):c.313del (p.Ala105fs)
|
rs587783179
|
|
|
NM_001253852.3(AP4B1):c.338+5G>A
|
rs1019204290
|
|
|
NM_001253852.3(AP4B1):c.663del (p.Leu222fs)
|
rs776766270
|
|
|
NM_001253852.3(AP4B1):c.838C>T (p.Pro280Ser)
|
rs373681764
|
|
|
NM_001254.4(CDC6):c.789G>C (p.Met263Ile)
|
rs764112565
|
|
|
NM_001254.4(CDC6):c.809A>G (p.His270Arg)
|
rs797045440
|
|
|
NM_001256053.2(ANKRD26):c.1815-2_1815del
|
rs564681878
|
|
|
NM_001257180.2(SLC20A2):c.1438G>T (p.Ala480Ser)
|
rs79577461
|
|
|
NM_001257180.2(SLC20A2):c.935-3C>G
|
rs2131008814
|
|
|
NM_001261826.3(AP3D1):c.1275G>T (p.Leu425=)
|
rs2145067737
|
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
|
NM_001267550.2(TTN):c.101613G>A (p.Arg33871=)
|
rs797046068
|
|
|
NM_001267550.2(TTN):c.103131C>T (p.Gly34377=)
|
rs797046069
|
|
|
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln)
|
rs1553484561
|
|
|
NM_001267550.2(TTN):c.107644del (p.Ser35882fs)
|
rs1179955071
|
|
|
NM_001267550.2(TTN):c.1517T>A (p.Met506Lys)
|
rs1210731040
|
|
|
NM_001267550.2(TTN):c.16508T>A (p.Leu5503Ter)
|
rs2154310403
|
|
|
NM_001267550.2(TTN):c.16549T>G (p.Ser5517Ala)
|
rs200520316
|
|
|
NM_001267550.2(TTN):c.22731A>T (p.Val7577=)
|
rs2154301474
|
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs)
|
rs797046060
|
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA
|
rs1553893826
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[7]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.2691G>C (p.Glu897Asp)
|
rs778905342
|
|
|
NM_001267550.2(TTN):c.28754-9C>T
|
rs797046061
|
|
|
NM_001267550.2(TTN):c.29525A>G (p.Tyr9842Cys)
|
rs1553879661
|
|
|
NM_001267550.2(TTN):c.30495G>A (p.Leu10165=)
|
rs1553874949
|
|
|
NM_001267550.2(TTN):c.30683-17_30683-8dup
|
rs368277751
|
|
|
NM_001267550.2(TTN):c.30921C>T (p.His10307=)
|
rs1553864476
|
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.33404C>A (p.Ala11135Glu)
|
rs577901623
|
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
|
NM_001267550.2(TTN):c.33754C>A (p.Pro11252Thr)
|
rs886055283
|
|
|
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])
|
rs587780487
|
|
|
NM_001267550.2(TTN):c.3475C>A (p.Arg1159Ser)
|
rs797046063
|
|
|
NM_001267550.2(TTN):c.34812A>C (p.Lys11604Asn)
|
rs797046062
|
|
|
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.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
|
NM_001267550.2(TTN):c.42557C>T (p.Thr14186Ile)
|
rs369771893
|
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
|
NM_001267550.2(TTN):c.44418C>A (p.Ser14806Arg)
|
rs368005198
|
|
|
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)
|
rs587780490
|
|
|
NM_001267550.2(TTN):c.55804C>T (p.Pro18602Ser)
|
rs781300931
|
|
|
NM_001267550.2(TTN):c.58775C>A (p.Thr19592Asn)
|
rs745441183
|
|
|
NM_001267550.2(TTN):c.63185T>C (p.Ile21062Thr)
|
rs575313522
|
|
|
NM_001267550.2(TTN):c.63187+5G>C
|
rs1292388582
|
|
|
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)
|
rs397517660
|
|
|
NM_001267550.2(TTN):c.66392C>T (p.Thr22131Ile)
|
rs1553626919
|
|
|
NM_001267550.2(TTN):c.67136T>C (p.Ile22379Thr)
|
|
|
|
NM_001267550.2(TTN):c.68803ATT[1] (p.Ile22936del)
|
rs587780493
|
|
|
NM_001267550.2(TTN):c.73110_73111delinsCA (p.Trp24370_Gln24371delinsCysLys)
|
rs1553608093
|
|
|
NM_001267550.2(TTN):c.74691A>G (p.Ser24897=)
|
rs797046066
|
|
|
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)
|
rs55933739
|
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
|
NM_001267550.2(TTN):c.86231T>G (p.Ile28744Arg)
|
rs2154158261
|
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
|
NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del)
|
rs753636173
|
|
|
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)
|
rs11887722
|
|
|
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=)
|
rs11897366
|
|
|
NM_001267550.2(TTN):c.92187C>A (p.Ser30729Arg)
|
rs778827102
|
|
|
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)
|
rs587780495
|
|
|
NM_001271.4(CHD2):c.1052+3A>G
|
rs1555439559
|
|
|
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)
|
rs150268140
|
|
|
NM_001271696.3(ABCB7):c.1132A>G (p.Asn378Asp)
|
rs2147465341
|
|
|
NM_001272071.2(AP1S2):c.281del (p.Phe94fs)
|
rs1555904182
|
|
|
NM_001272071.2(AP1S2):c.426+1G>T
|
rs587777542
|
|
|
NM_001273.5(CHD4):c.606G>A (p.Met202Ile)
|
|
|
|
NM_001276270.2(MBD4):c.939dup (p.Glu314fs)
|
rs558765093
|
|
|
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=)
|
rs1047006
|
|
|
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)
|
rs137852520
|
|
|
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=)
|
rs201131192
|
|
|
NM_001278116.2(L1CAM):c.1704-12G>C
|
rs916169
|
|
|
NM_001278116.2(L1CAM):c.1704G>A (p.Lys568=)
|
rs1557091675
|
|
|
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)
|
rs797045673
|
|
|
NM_001278116.2(L1CAM):c.2351A>G (p.Tyr784Cys)
|
rs797045674
|
|
|
NM_001278116.2(L1CAM):c.2614G>T (p.Val872Leu)
|
rs797045675
|
|
|
NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter)
|
rs1557090161
|
|
|
NM_001278116.2(L1CAM):c.807-6G>A
|
rs886039405
|
|
|
NM_001278182.2(EOMES):c.358_359insGCGCCG (p.Ala119_Ala120insGlyAla)
|
rs1553745484
|
|
|
NM_001282225.2(ADA2):c.1373T>C (p.Val458Ala)
|
rs748893301
|
|
|
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs)
|
rs754904956
|
|
|
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala)
|
rs200930463
|
|
|
NM_001282225.2(ADA2):c.760G>A (p.Glu254Lys)
|
rs2062118514
|
|
|
NM_001282531.3(ADNP):c.2143G>A (p.Val715Met)
|
rs771353879
|
|
|
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val)
|
rs564373258
|
|
|
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup)
|
rs577498739
|
|
|
NM_001282531.3(ADNP):c.69dup (p.Ser24Ter)
|
rs2122840680
|
|
|
NM_001282531.3(ADNP):c.782T>C (p.Val261Ala)
|
rs2122760486
|
|
|
NM_001283009.2(RTEL1):c.-9C>G
|
rs2146141277
|
|
|
NM_001283009.2(RTEL1):c.1135+1G>A
|
rs1555903332
|
|
|
NM_001283009.2(RTEL1):c.1266+29_1267-88dup
|
rs1568703547
|
|
|
NM_001283009.2(RTEL1):c.1419C>A (p.Arg473=)
|
rs117195545
|
|
|
NM_001283009.2(RTEL1):c.1482-8_1482-7inv
|
|
|
|
NM_001283009.2(RTEL1):c.1601_1602delinsTT (p.Ser534Phe)
|
rs2145421604
|
|
|
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter)
|
rs368311594
|
|
|
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr)
|
rs148080505
|
|
|
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=)
|
rs116624637
|
|
|
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del)
|
rs558133631
|
|
|
NM_001283009.2(RTEL1):c.2413+5G>C
|
rs750836127
|
|
|
NM_001283009.2(RTEL1):c.273C>T (p.Asn91=)
|
rs779793496
|
|
|
NM_001283009.2(RTEL1):c.2828C>T (p.Pro943Leu)
|
rs142969505
|
|
|
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu)
|
rs143967591
|
|
|
NM_001283009.2(RTEL1):c.2993-8_2993-6del
|
rs761735369
|
|
|
NM_001283009.2(RTEL1):c.3109+1G>C
|
rs2145471794
|
|
|
NM_001283009.2(RTEL1):c.311C>T (p.Thr104Met)
|
rs367809459
|
|
|
NM_001283009.2(RTEL1):c.3370del (p.His1124fs)
|
rs1555814400
|
|
|
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=)
|
rs368588082
|
|
|
NM_001283009.2(RTEL1):c.42T>C (p.Pro14=)
|
rs2146141432
|
|
|
NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser)
|
rs1555899096
|
|
|
NM_001283009.2(RTEL1):c.901_919+72del
|
rs1569090870
|
|
|
NM_001289104.2(PRKCSH):c.1236C>T (p.Asn412=)
|
|
|
|
NM_001289104.2(PRKCSH):c.812G>A (p.Arg271His)
|
|
|
|
NM_001289104.2(PRKCSH):c.939GGA[11] (p.Glu325dup)
|
rs3217229
|
|
|
NM_001291303.3(FAT4):c.10155T>A (p.Gly3385=)
|
rs780130895
|
|
|
NM_001291303.3(FAT4):c.5322C>T (p.Leu1774=)
|
|
|
|
NM_001291303.3(FAT4):c.7466C>T (p.Ala2489Val)
|
rs144853732
|
|
|
NM_001291415.2(KDM6A):c.1699del (p.Val567fs)
|
rs797045642
|
|
|
NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys)
|
rs2230018
|
|
|
NM_001291415.2(KDM6A):c.2388C>T (p.Val796=)
|
rs35467614
|
|
|
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs)
|
rs786205676
|
|
|
NM_001291415.2(KDM6A):c.2988+2dup
|
rs797045643
|
|
|
NM_001291415.2(KDM6A):c.3138del (p.Asn1046fs)
|
rs2148118664
|
|
|
NM_001291415.2(KDM6A):c.3366-9T>C
|
rs1225162196
|
|
|
NM_001291415.2(KDM6A):c.3507T>G (p.Asn1169Lys)
|
rs2148152270
|
|
|
NM_001291415.2(KDM6A):c.3635G>T (p.Gly1212Val)
|
rs2148169289
|
|
|
NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg)
|
rs797045644
|
|
|
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup)
|
rs797044622
|
|
|
NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln)
|
rs797045739
|
|
|
NM_001291867.2(NHS):c.1943_1945dup (p.Thr648dup)
|
rs797045740
|
|
|
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del)
|
rs10590816
|
|
|
NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del)
|
rs797045741
|
|
|
NM_001291867.2(NHS):c.333GGC[3] (p.Ala115_Ala117del)
|
rs587780401
|
|
|
NM_001291867.2(NHS):c.333GGC[5] (p.Ala117del)
|
rs587780401
|
|
|
NM_001291867.2(NHS):c.4167T>C (p.Ser1389=)
|
rs767452227
|
|
|
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup)
|
rs398124609
|
|
|
NM_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe)
|
rs909187176
|
|
|
NM_001308093.3(GATA4):c.158A>T (p.Tyr53Phe)
|
rs2130068092
|
|
|
NM_001308093.3(GATA4):c.702G>A (p.Thr234=)
|
rs55788387
|
|
|
NM_001308093.3(GATA4):c.915C>A (p.Val305=)
|
rs1802486000
|
|
|
NM_001312909.2(FAM111A):c.1454G>A (p.Cys485Tyr)
|
rs2135487872
|
|
|
NM_001321142.2(CIDEC):c.545G>A (p.Arg182His)
|
rs111713852
|
|
|
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg)
|
rs267608429
|
|
|
NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn)
|
rs1555951997
|
|
|
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter)
|
rs1555952015
|
|
|
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs)
|
rs587783398
|
|
|
NM_001323289.2(CDKL5):c.146-1G>A
|
rs587783399
|
|
|
NM_001323289.2(CDKL5):c.155_156del (p.Glu52fs)
|
rs2147139532
|
|
|
NM_001323289.2(CDKL5):c.1612_1613del (p.Thr538fs)
|
rs2147160920
|
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
|
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs)
|
rs1555952101
|
|
|
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)
|
rs62653623
|
|
|
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs)
|
rs587783401
|
|
|
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter)
|
rs267608647
|
|
|
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)
|
rs267608437
|
|
|
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=)
|
rs747554139
|
|
|
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
|
rs267608659
|
|
|
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val)
|
rs587783402
|
|
|
NM_001323289.2(CDKL5):c.2496+19A>G
|
rs797045444
|
|
|
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs)
|
rs267608662
|
|
|
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)
|
rs267608663
|
|
|
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)
|
rs587783158
|
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
|
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)
|
rs267608490
|
|
|
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg)
|
rs587783084
|
|
|
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs)
|
rs267608497
|
|
|
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)
|
rs267608500
|
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
|
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val)
|
rs786204962
|
|
|
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)
|
rs587783405
|
|
|
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)
|
rs587783406
|
|
|
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser)
|
rs267608532
|
|
|
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=)
|
rs587783407
|
|
|
NM_001329943.3(KIAA0586):c.2737C>A (p.Pro913Thr)
|
rs2141024944
|
|
|
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs)
|
rs867342730
|
|
|
NM_001329943.3(KIAA0586):c.572C>A (p.Ala191Asp)
|
|
|
|
NM_001330078.2(NRXN1):c.1424A>C (p.Asn475Thr)
|
rs751754721
|
|
|
NM_001330078.2(NRXN1):c.1592A>G (p.Lys531Arg)
|
rs796052769
|
|
|
NM_001330078.2(NRXN1):c.1648C>G (p.Leu550Val)
|
rs1295091945
|
|
|
NM_001330078.2(NRXN1):c.1958G>A (p.Ser653Asn)
|
rs587780406
|
|
|
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val)
|
rs199557987
|
|
|
NM_001330078.2(NRXN1):c.2537A>C (p.Asn846Thr)
|
rs797045797
|
|
|
NM_001330078.2(NRXN1):c.3009A>T (p.Val1003=)
|
rs781048514
|
|
|
NM_001330078.2(NRXN1):c.316G>A (p.Asp106Asn)
|
rs200576486
|
|
|
NM_001330078.2(NRXN1):c.3192C>T (p.Asp1064=)
|
rs199580594
|
|
|
NM_001330078.2(NRXN1):c.3618C>T (p.Ile1206=)
|
rs1573859191
|
|
|
NM_001330078.2(NRXN1):c.637G>A (p.Gly213Arg)
|
rs199561088
|
|
|
NM_001330078.2(NRXN1):c.656_664dup (p.Ala219_Glu221dup)
|
rs546508545
|
|
|
NM_001330078.2(NRXN1):c.772+9del
|
rs755130575
|
|
|
NM_001330260.2(SCN8A):c.1823G>A (p.Arg608His)
|
rs371644624
|
|
|
NM_001330260.2(SCN8A):c.1999-5del
|
rs769940455
|
|
|
NM_001330260.2(SCN8A):c.202A>G (p.Ile68Val)
|
rs797045945
|
|
|
NM_001330260.2(SCN8A):c.2132-8_2132-5del
|
rs587780452
|
|
|
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr)
|
rs1555225794
|
|
|
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
|
rs796053216
|
|
|
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val)
|
rs796053217
|
|
|
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu)
|
rs587780454
|
|
|
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637
|
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
|
NM_001330311.2(DVL1):c.1131C>A (p.Tyr377Ter)
|
rs779477027
|
|
|
NM_001330574.2(ZNF711):c.124GTT[1] (p.Val43del)
|
rs587780527
|
|
|
NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile)
|
rs200444579
|
|
|
NM_001330574.2(ZNF711):c.1838G>T (p.Cys613Phe)
|
rs797046130
|
|
|
NM_001346022.3(USP45):c.1008del (p.Val337fs)
|
rs554927779
|
|
|
NM_001346022.3(USP45):c.1327C>T (p.Arg443Ter)
|
|
|
|
NM_001346022.3(USP45):c.1548G>T (p.Gln516His)
|
|
|
|
NM_001346022.3(USP45):c.1709_1710delinsAG (p.Gly570Glu)
|
rs2128552892
|
|
|
NM_001346022.3(USP45):c.1794T>G (p.Tyr598Ter)
|
rs766826756
|
|
|
NM_001346022.3(USP45):c.2098A>C (p.Asn700His)
|
rs2128530568
|
|
|
NM_001346022.3(USP45):c.562T>G (p.Ser188Ala)
|
rs778515019
|
|
|
NM_001346022.3(USP45):c.570_571del (p.Gly191fs)
|
rs1463066356
|
|
|
NM_001346022.3(USP45):c.904C>T (p.Leu302=)
|
|
|
|
NM_001347721.2(DYRK1A):c.103C>T (p.Pro35Ser)
|
rs968549141
|
|
|
NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs)
|
rs797045539
|
|
|
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)
|
rs724159953
|
|
|
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs)
|
rs1555990958
|
|
|
NM_001347721.2(DYRK1A):c.1503T>C (p.Ser501=)
|
rs775331480
|
|
|
NM_001347721.2(DYRK1A):c.1803CCA[7] (p.His609_His610dup)
|
rs760576043
|
|
|
NM_001347721.2(DYRK1A):c.208-28G>A
|
rs552103257
|
|
|
NM_001347721.2(DYRK1A):c.2188A>G (p.Met730Val)
|
rs201958918
|
|
|
NM_001347721.2(DYRK1A):c.300+7C>T
|
rs537532878
|
|
|
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)
|
rs1057518204
|
|
|
NM_001347721.2(DYRK1A):c.363G>C (p.Lys121Asn)
|
rs991834315
|
|
|
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)
|
rs724159948
|
|
|
NM_001347721.2(DYRK1A):c.795T>C (p.Leu265=)
|
rs1057523364
|
|
|
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val)
|
rs797045540
|
|
|
NM_001347721.2(DYRK1A):c.924+4_924+7del
|
rs1555984461
|
|
|
NM_001348800.3(ZBTB20):c.491G>A (p.Arg164Gln)
|
rs1455665941
|
|
|
NM_001349253.2(SCN11A):c.2501T>G (p.Leu834Ter)
|
rs1553637029
|
|
|
NM_001349338.3(FOXP1):c.1236C>A (p.Ala412=)
|
rs376833445
|
|
|
NM_001349338.3(FOXP1):c.126G>A (p.Pro42=)
|
rs762082081
|
|
|
NM_001349338.3(FOXP1):c.1405A>G (p.Thr469Ala)
|
rs1553668167
|
|
|
NM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter)
|
rs797045584
|
|
|
NM_001349338.3(FOXP1):c.1510C>G (p.Arg504Gly)
|
rs797045585
|
|
|
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
|
rs797045586
|
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
|
NM_001349338.3(FOXP1):c.181-4C>T
|
rs558832183
|
|
|
NM_001349338.3(FOXP1):c.602G>A (p.Arg201His)
|
rs1450448594
|
|
|
NM_001349338.3(FOXP1):c.606del (p.Gly203fs)
|
rs1553709907
|
|
|
NM_001349338.3(FOXP1):c.98G>C (p.Arg33Pro)
|
rs587780339
|
|
|
NM_001353108.3(CEP63):c.1331G>A (p.Arg444Gln)
|
rs140451650
|
|
|
NM_001353108.3(CEP63):c.1673+12dup
|
rs35934324
|
|
|
NM_001353108.3(CEP63):c.1714G>A (p.Glu572Lys)
|
rs1553789251
|
|
|
NM_001353108.3(CEP63):c.193A>C (p.Arg65=)
|
rs142629260
|
|
|
NM_001353108.3(CEP63):c.1973C>A (p.Pro658His)
|
rs781235688
|
|
|
NM_001353108.3(CEP63):c.783A>G (p.Leu261=)
|
rs1278502113
|
|
|
NM_001353108.3(CEP63):c.989_992del (p.Asp330fs)
|
rs797045459
|
|
|
NM_001353921.2(ARHGEF9):c.166C>A (p.Gln56Lys)
|
rs781823638
|
|
|
NM_001353921.2(ARHGEF9):c.266G>T (p.Gly89Val)
|
rs797045261
|
|
|
NM_001353921.2(ARHGEF9):c.744T>C (p.Thr248=)
|
rs1556365168
|
|
|
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser)
|
rs782497496
|
|
|
NM_001353921.2(ARHGEF9):c.901A>T (p.Ile301Phe)
|
rs1556359038
|
|
|
NM_001354604.2(MITF):c.583-9T>C
|
rs1576007776
|
|
|
NM_001354712.2(THRB):c.1305T>G (p.His435Gln)
|
rs1553609185
|
|
|
NM_001354712.2(THRB):c.700G>A (p.Ala234Thr)
|
rs121918694
|
|
|
NM_001354712.2(THRB):c.830C>T (p.Thr277Ile)
|
rs2148894604
|
|
|
NM_001354712.2(THRB):c.917A>C (p.Lys306Thr)
|
rs2148834585
|
|
|
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)
|
rs1555954380
|
|
|
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)
|
rs759310292
|
|
|
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)
|
rs1949268068
|
|
|
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)
|
rs146867923
|
|
|
NM_001360.3(DHCR7):c.957G>T (p.Thr319=)
|
rs200157761
|
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
|
NM_001363.4(DKC1):c.-171A>T
|
rs782519189
|
|
|
NM_001363.5(DKC1):c.-59G>T
|
rs1569558417
|
|
|
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)
|
rs199422254
|
|
|
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)
|
rs1557265435
|
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
|
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)
|
rs782576893
|
|
|
NM_001363.5(DKC1):c.171+14del
|
rs782433339
|
|
|
NM_001363.5(DKC1):c.915+10G>A
|
rs1603429509
|
|
|
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)
|
rs181461079
|
|
|
NM_001363711.2(DUOX2):c.587_619del (p.Arg196_Gly206del)
|
rs1894402738
|
|
|
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)
|
rs567500345
|
|
|
NM_001364905.1(LRBA):c.1015-10del
|
rs753223643
|
|
|
NM_001364905.1(LRBA):c.217-10del
|
rs766044503
|
|
|
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=)
|
rs150689413
|
|
|
NM_001364905.1(LRBA):c.459del (p.Asp154fs)
|
rs2149508421
|
|
|
NM_001364905.1(LRBA):c.5227A>G (p.Ser1743Gly)
|
rs768830356
|
|
|
NM_001364905.1(LRBA):c.8163G>T (p.Arg2721Ser)
|
rs1307266786
|
|
|
NM_001365088.1(SLC12A6):c.2436+1del
|
rs515726215
|
|
|
NM_001365276.2(TNXB):c.9195G>A (p.Glu3065=)
|
rs201944713
|
|
|
NM_001365480.1(CCDC88A):c.982G>A (p.Glu328Lys)
|
|
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
|
NM_001365536.1(SCN9A):c.2420G>T (p.Gly807Val)
|
rs1553488264
|
|
|
NM_001365902.3(NFIX):c.1080_1096del (p.Ser361fs)
|
rs797045737
|
|
|
NM_001365902.3(NFIX):c.179del (p.Leu60fs)
|
rs2145191753
|
|
|
NM_001365902.3(NFIX):c.876C>A (p.Asp292Glu)
|
rs781317645
|
|
|
NM_001365902.3(NFIX):c.927dup (p.Ser310fs)
|
rs1555705733
|
|
|
NM_001365902.3(NFIX):c.970_971del (p.Lys324fs)
|
rs797045738
|
|
|
NM_001365951.3(KIF1B):c.4522A>C (p.Thr1508Pro)
|
rs78662124
|
|
|
NM_001365999.1(SZT2):c.8182G>C (p.Glu2728Gln)
|
rs1553154186
|
|
|
NM_001365999.1(SZT2):c.8594C>T (p.Pro2865Leu)
|
rs374031590
|
|
|
NM_001366110.1(PAX4):c.115C>G (p.Arg39Gly)
|
|
|
|
NM_001366722.1(GRIP1):c.2523A>G (p.Lys841=)
|
rs2137380374
|
|
|
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)
|
rs281165933
|
|
|
NM_001367721.1(CASK):c.1155+1G>T
|
|
|
|
NM_001367721.1(CASK):c.1269C>T (p.Asn423=)
|
rs17315800
|
|
|
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter)
|
rs387906705
|
|
|
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs)
|
rs587783357
|
|
|
NM_001367721.1(CASK):c.1669-6dup
|
rs746809939
|
|
|
NM_001367721.1(CASK):c.1683dup (p.Ser562fs)
|
rs2147151260
|
|
|
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)
|
rs1555980033
|
|
|
NM_001367721.1(CASK):c.1981del (p.Leu661fs)
|
rs797045431
|
|
|
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser)
|
rs587783358
|
|
|
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)
|
rs587783360
|
|
|
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)
|
rs587783361
|
|
|
NM_001367721.1(CASK):c.20_27del (p.Leu7fs)
|
rs587783362
|
|
|
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)
|
rs398122844
|
|
|
NM_001367721.1(CASK):c.2198A>G (p.Lys733Arg)
|
rs587783363
|
|
|
NM_001367721.1(CASK):c.2277C>T (p.Leu759=)
|
rs758345399
|
|
|
NM_001367721.1(CASK):c.2317+10G>C
|
rs797045432
|
|
|
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter)
|
rs749742837
|
|
|
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter)
|
rs587783364
|
|
|
NM_001367721.1(CASK):c.2521-2A>T
|
rs398122845
|
|
|
NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs)
|
rs797045433
|
|
|
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs)
|
rs1555972628
|
|
|
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)
|
rs387906704
|
|
|
NM_001367721.1(CASK):c.429+4del
|
rs797045434
|
|
|
NM_001367721.1(CASK):c.430-2A>T
|
rs587783366
|
|
|
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp)
|
rs587783367
|
|
|
NM_001367721.1(CASK):c.708+1G>A
|
rs587783368
|
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
|
NM_001367721.1(CASK):c.793A>T (p.Ile265Phe)
|
rs2147465356
|
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
|
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter)
|
rs587783371
|
|
|
NM_001367721.1(CASK):c.891A>G (p.Lys297=)
|
rs544979992
|
|
|
NM_001367916.1(MAGT1):c.-7A>G
|
rs1426308980
|
|
|
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp)
|
rs140854076
|
|
|
NM_001367916.1(MAGT1):c.283GAA[1] (p.Glu96del)
|
rs2149023700
|
|
|
NM_001367916.1(MAGT1):c.397A>G (p.Met133Val)
|
|
|
|
NM_001368397.1(FRMPD4):c.1682T>C (p.Ile561Thr)
|
rs2147168676
|
|
|
NM_001368397.1(FRMPD4):c.1924G>A (p.Ala642Thr)
|
rs1555897781
|
|
|
NM_001368397.1(FRMPD4):c.2182G>A (p.Ala728Thr)
|
rs750615873
|
|
|
NM_001368397.1(FRMPD4):c.3115C>A (p.Pro1039Thr)
|
rs369963195
|
|
|
NM_001368397.1(FRMPD4):c.3261C>T (p.Arg1087=)
|
rs776961749
|
|
|
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=)
|
rs41303149
|
|
|
NM_001368397.1(FRMPD4):c.42-9C>A
|
rs765633648
|
|
|
NM_001370100.5(ZMYND11):c.612A>G (p.Lys204=)
|
rs1554788945
|
|
|
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)
|
rs794728640
|
|
|
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)
|
rs794728620
|
|
|
NM_001370259.2(MEN1):c.869A>C (p.Glu290Ala)
|
rs1213891703
|
|
|
NM_001370259.2(MEN1):c.897C>T (p.Leu299=)
|
rs1409781409
|
|
|
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)
|
rs397514333
|
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
|
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr)
|
rs556875684
|
|
|
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro)
|
rs2071240
|
|
|
NM_001371623.1(TCOF1):c.386_387del (p.Thr129fs)
|
rs797046037
|
|
|
NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs)
|
rs587776585
|
|
|
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)
|
rs587776582
|
|
|
NM_001372044.2(SHANK3):c.1353T>C (p.Asp451=)
|
rs1196417230
|
|
|
NM_001372044.2(SHANK3):c.2103G>A (p.Thr701=)
|
rs778640691
|
|
|
NM_001372044.2(SHANK3):c.3806T>C (p.Met1269Thr)
|
rs797045960
|
|
|
NM_001372044.2(SHANK3):c.4756C>T (p.Leu1586=)
|
rs2146833802
|
|
|
NM_001374828.1(ARID1B):c.1136A>C (p.Asn379Thr)
|
rs797045285
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[10] (p.Gly401_Gly402dup)
|
rs587779747
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del)
|
rs587779747
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[6] (p.Gly401_Gly402del)
|
rs587779747
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402dup)
|
rs587779747
|
|
|
NM_001374828.1(ARID1B):c.1191_1196del (p.Gly401_Gly402del)
|
rs1583025508
|
|
|
NM_001374828.1(ARID1B):c.1194AGG[3] (p.Gly402del)
|
rs587779748
|
|
|
NM_001374828.1(ARID1B):c.1206_1223del (p.Ser403_Gly408del)
|
rs755976776
|
|
|
NM_001374828.1(ARID1B):c.1211GAG[5] (p.Gly409_Gly411del)
|
rs747790383
|
|
|
NM_001374828.1(ARID1B):c.1211GAG[6] (p.Gly410_Gly411del)
|
rs747790383
|
|
|
NM_001374828.1(ARID1B):c.1211GAG[7] (p.Gly411del)
|
rs747790383
|
|
|
NM_001374828.1(ARID1B):c.1211GAG[9] (p.Gly411dup)
|
rs747790383
|
|
|
NM_001374828.1(ARID1B):c.1227AGGAGGAGCAGGAGC[1] (p.411GAGAG[1])
|
rs773423003
|
|
|
NM_001374828.1(ARID1B):c.1235CAGGAG[1] (p.412AG[1])
|
rs747438636
|
|
|
NM_001374828.1(ARID1B):c.1238GAGCAGGAG[1] (p.413GAG[1])
|
rs771557031
|
|
|
NM_001374828.1(ARID1B):c.1265_1270dup (p.Val422_Ala423dup)
|
rs759630370
|
|
|
NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433dup)
|
rs797045267
|
|
|
NM_001374828.1(ARID1B):c.1303GGC[4] (p.Gly439_Gly440del)
|
rs797045268
|
|
|
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del)
|
rs797045268
|
|
|
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup)
|
rs797045268
|
|
|
NM_001374828.1(ARID1B):c.1585CCG[6] (p.Pro533dup)
|
rs572236007
|
|
|
NM_001374828.1(ARID1B):c.1620GGCGGCGGCGGG[1] (p.541AAAG[1])
|
rs1239601972
|
|
|
NM_001374828.1(ARID1B):c.1624G>A (p.Ala542Thr)
|
rs587779740
|
|
|
NM_001374828.1(ARID1B):c.1732C>T (p.Gln578Ter)
|
rs1554248236
|
|
|
NM_001374828.1(ARID1B):c.2082A>C (p.Pro694=)
|
rs756099753
|
|
|
NM_001374828.1(ARID1B):c.2109dup (p.Ser704fs)
|
rs1554265319
|
|
|
NM_001374828.1(ARID1B):c.2211G>A (p.Leu737=)
|
rs797045271
|
|
|
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter)
|
rs753933273
|
|
|
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter)
|
rs797045272
|
|
|
NM_001374828.1(ARID1B):c.266_274dup (p.Gly89_Ala91dup)
|
rs777784233
|
|
|
NM_001374828.1(ARID1B):c.2675dup (p.Gln893fs)
|
rs1554301230
|
|
|
NM_001374828.1(ARID1B):c.3098G>A (p.Ser1033Asn)
|
rs1554228777
|
|
|
NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=)
|
rs537901478
|
|
|
NM_001374828.1(ARID1B):c.352TCC[6] (p.Ser124del)
|
rs770512547
|
|
|
NM_001374828.1(ARID1B):c.352TCC[8] (p.Ser124dup)
|
rs770512547
|
|
|
NM_001374828.1(ARID1B):c.3618_3619del (p.Gly1207fs)
|
rs2128317232
|
|
|
NM_001374828.1(ARID1B):c.3678C>T (p.Leu1226=)
|
rs111368751
|
|
|
NM_001374828.1(ARID1B):c.369C>T (p.Ser123=)
|
rs1281627380
|
|
|
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter)
|
rs1554231836
|
|
|
NM_001374828.1(ARID1B):c.3819del (p.Phe1273fs)
|
rs1554231845
|
|
|
NM_001374828.1(ARID1B):c.4165A>G (p.Met1389Val)
|
rs773883674
|
|
|
NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter)
|
rs1554234341
|
|
|
NM_001374828.1(ARID1B):c.4471C>T (p.Gln1491Ter)
|
rs587779745
|
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
|
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)
|
rs797045278
|
|
|
NM_001374828.1(ARID1B):c.4746del (p.Pro1583fs)
|
rs587779746
|
|
|
NM_001374828.1(ARID1B):c.4843G>A (p.Gly1615Ser)
|
rs1274057762
|
|
|
NM_001374828.1(ARID1B):c.5172A>G (p.Pro1724=)
|
rs1197819486
|
|
|
NM_001374828.1(ARID1B):c.527A>T (p.His176Leu)
|
rs587779741
|
|
|
NM_001374828.1(ARID1B):c.5310T>C (p.Leu1770=)
|
rs372621575
|
|
|
NM_001374828.1(ARID1B):c.537_560del (p.His181_Ala188del)
|
rs1554247278
|
|
|
NM_001374828.1(ARID1B):c.5425dup (p.Tyr1809fs)
|
rs797045279
|
|
|
NM_001374828.1(ARID1B):c.5520del (p.Lys1841fs)
|
rs797045280
|
|
|
NM_001374828.1(ARID1B):c.5522del (p.Lys1841fs)
|
rs797045281
|
|
|
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)
|
rs1554237269
|
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
|
NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214dup)
|
rs587779743
|
|
|
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup)
|
rs587779743
|
|
|
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)
|
rs886041706
|
|
|
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln207_Gln214dup)
|
rs770869529
|
|
|
NM_001374828.1(ARID1B):c.612_620del (p.Gln212_Gln214del)
|
rs797045274
|
|
|
NM_001374828.1(ARID1B):c.612_623del (p.Gln211_Gln214del)
|
rs797045275
|
|
|
NM_001374828.1(ARID1B):c.612_632del (p.Gln208_Gln214del)
|
rs762617219
|
|
|
NM_001374828.1(ARID1B):c.615GCA[6] (p.Gln214del)
|
rs587779744
|
|
|
NM_001374828.1(ARID1B):c.615GCA[8] (p.Gln214dup)
|
rs587779744
|
|
|
NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln213_Gln214dup)
|
rs587779744
|
|
|
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
|
NM_001374828.1(ARID1B):c.6626T>G (p.Leu2209Arg)
|
rs1554237999
|
|
|
NM_001374828.1(ARID1B):c.6873G>A (p.Thr2291=)
|
rs377350616
|
|
|
NM_001374828.1(ARID1B):c.886C>T (p.Pro296Ser)
|
rs797045284
|
|
|
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=)
|
rs745740327
|
|
|
NM_001375380.1(EBF3):c.134+15_134+35del
|
rs1859708775
|
|
|
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)
|
rs779003155
|
|
|
NM_001375380.1(EBF3):c.633C>G (p.Phe211Leu)
|
rs1554904311
|
|
|
NM_001375405.1(CEP120):c.1431-18_1431-10del
|
|
|
|
NM_001375405.1(CEP120):c.779G>A (p.Arg260His)
|
rs189429890
|
|
|
NM_001376.5(DYNC1H1):c.10380C>T (p.Ala3460=)
|
rs1555411404
|
|
|
NM_001376.5(DYNC1H1):c.10809A>G (p.Glu3603=)
|
rs772324981
|
|
|
NM_001376.5(DYNC1H1):c.11045G>A (p.Arg3682Gln)
|
rs1555411755
|
|
|
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro)
|
rs797045529
|
|
|
NM_001376.5(DYNC1H1):c.1122T>A (p.Ile374=)
|
rs777210028
|
|
|
NM_001376.5(DYNC1H1):c.11245C>A (p.Leu3749Ile)
|
rs1555411787
|
|
|
NM_001376.5(DYNC1H1):c.11492T>A (p.Phe3831Tyr)
|
rs1425329166
|
|
|
NM_001376.5(DYNC1H1):c.12181G>A (p.Glu4061Lys)
|
rs797045530
|
|
|
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=)
|
rs114906811
|
|
|
NM_001376.5(DYNC1H1):c.12215-4C>T
|
rs1174367006
|
|
|
NM_001376.5(DYNC1H1):c.12428G>A (p.Arg4143His)
|
rs867634752
|
|
|
NM_001376.5(DYNC1H1):c.13548G>C (p.Val4516=)
|
rs1555412737
|
|
|
NM_001376.5(DYNC1H1):c.2821G>C (p.Asp941His)
|
rs2141276690
|
|
|
NM_001376.5(DYNC1H1):c.3565-5C>T
|
rs2141282598
|
|
|
NM_001376.5(DYNC1H1):c.3795G>T (p.Lys1265Asn)
|
rs1555408996
|
|
|
NM_001376.5(DYNC1H1):c.4501A>T (p.Ile1501Phe)
|
rs368821864
|
|
|
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln)
|
rs797044901
|
|
|
NM_001376.5(DYNC1H1):c.4797_4798delinsTC (p.Arg1599_Ser1600delinsSerPro)
|
rs2141287072
|
|
|
NM_001376.5(DYNC1H1):c.5292C>G (p.Thr1764=)
|
rs755482182
|
|
|
NM_001376.5(DYNC1H1):c.5907G>T (p.Ser1969=)
|
rs758999145
|
|
|
NM_001376.5(DYNC1H1):c.60C>G (p.Ala20=)
|
rs1555407002
|
|
|
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr)
|
rs1555409836
|
|
|
NM_001376.5(DYNC1H1):c.6258T>C (p.Tyr2086=)
|
rs1254207934
|
|
|
NM_001376.5(DYNC1H1):c.631C>G (p.Pro211Ala)
|
rs1555407907
|
|
|
NM_001376.5(DYNC1H1):c.6468G>A (p.Leu2156=)
|
rs797045531
|
|
|
NM_001376.5(DYNC1H1):c.6857+6T>G
|
rs1555409996
|
|
|
NM_001376.5(DYNC1H1):c.7746C>T (p.Tyr2582=)
|
rs797045533
|
|
|
NM_001376.5(DYNC1H1):c.7851G>A (p.Val2617=)
|
rs1041508059
|
|
|
NM_001376.5(DYNC1H1):c.7884A>G (p.Pro2628=)
|
rs797045534
|
|
|
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)
|
rs797045535
|
|
|
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)
|
rs713993043
|
|
|
NM_001376.5(DYNC1H1):c.7981T>G (p.Leu2661Val)
|
rs367991209
|
|
|
NM_001376.5(DYNC1H1):c.9020G>A (p.Arg3007Gln)
|
rs797045537
|
|
|
NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=)
|
rs532073330
|
|
|
NM_001376.5(DYNC1H1):c.9372T>C (p.Asp3124=)
|
rs797045538
|
|
|
NM_001376.5(DYNC1H1):c.9418C>T (p.Arg3140Trp)
|
rs1555410999
|
|
|
NM_001376.5(DYNC1H1):c.948_952del (p.Phe316_Asp317insTer)
|
rs1555407963
|
|
|
NM_001376.5(DYNC1H1):c.9879G>A (p.Gln3293=)
|
rs184853838
|
|
|
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val)
|
rs1555411305
|
|
|
NM_001376.5(DYNC1H1):c.9960G>T (p.Ala3320=)
|
rs746026558
|
|
|
NM_001377.3(DYNC2H1):c.10831C>A (p.Arg3611Ser)
|
rs200818301
|
|
|
NM_001377.3(DYNC2H1):c.11096-9A>G
|
|
|
|
NM_001377.3(DYNC2H1):c.5784A>G (p.Gly1928=)
|
rs1555057066
|
|
|
NM_001377.3(DYNC2H1):c.8150T>A (p.Phe2717Tyr)
|
rs2135082253
|
|
|
NM_001378120.1(MBD5):c.4285C>G (p.Gln1429Glu)
|
rs1681467295
|
|
|
NM_001378120.1(MBD5):c.5149C>G (p.Pro1717Ala)
|
rs758847157
|
|
|
NM_001378120.1(MBD5):c.908T>G (p.Leu303Trp)
|
rs797045689
|
|
|
NM_001378183.1(PIEZO2):c.5203A>G (p.Ile1735Val)
|
rs2143884538
|
|
|
NM_001378183.1(PIEZO2):c.6202T>A (p.Leu2068Met)
|
rs112982077
|
|
|
NM_001378183.1(PIEZO2):c.6202T>C (p.Leu2068=)
|
rs112982077
|
|
|
NM_001378183.1(PIEZO2):c.7953-9del
|
rs5823112
|
|
|
NM_001378418.1(TCF20):c.150CAGTGG[2] (p.51SG[2])
|
rs541147459
|
|
|
NM_001378418.1(TCF20):c.2831A>G (p.Asn944Ser)
|
rs2147209334
|
|
|
NM_001378452.1(ITPR1):c.1906G>A (p.Asp636Asn)
|
rs2094030403
|
|
|
NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr)
|
rs797045632
|
|
|
NM_001378452.1(ITPR1):c.4083C>A (p.Phe1361Leu)
|
rs763239856
|
|
|
NM_001378452.1(ITPR1):c.731A>G (p.His244Arg)
|
rs1085308010
|
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
|
NM_001378454.1(ALMS1):c.10462G>T (p.Val3488Leu)
|
rs1057523167
|
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
|
|
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del)
|
rs757734472
|
|
|
NM_001378454.1(ALMS1):c.12115-1G>T
|
rs769160407
|
|
|
NM_001378454.1(ALMS1):c.1570_1572dup (p.Ser524dup)
|
rs797045226
|
|
|
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)
|
rs34628045
|
|
|
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=)
|
rs2103783750
|
|
|
NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=)
|
rs2103785042
|
|
|
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=)
|
rs1269563462
|
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
|
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs)
|
rs1034630858
|
|
|
NM_001378454.1(ALMS1):c.66_67insAAG (p.Glu22_Glu23insLys)
|
|
|
|
NM_001378454.1(ALMS1):c.7331T>A (p.Leu2444Gln)
|
|
|
|
NM_001378454.1(ALMS1):c.77_85del (p.Glu26_Glu28del)
|
rs797045229
|
|
|
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs)
|
rs386833745
|
|
|
NM_001378615.1(CC2D2A):c.1691C>A (p.Thr564Lys)
|
|
|
|
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)
|
rs16892134
|
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
|
NM_001378778.1(MPDZ):c.755G>A (p.Trp252Ter)
|
rs797045707
|
|
|
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val)
|
rs797045634
|
|
|
NM_001379110.1(SLC9A6):c.1070G>C (p.Arg357Thr)
|
rs796053286
|
|
|
NM_001379110.1(SLC9A6):c.1582-3C>T
|
rs563279759
|
|
|
NM_001379110.1(SLC9A6):c.165T>G (p.Ile55Met)
|
rs797045973
|
|
|
NM_001379110.1(SLC9A6):c.2012T>G (p.Leu671Ter)
|
rs587784399
|
|
|
NM_001379110.1(SLC9A6):c.211C>T (p.Pro71Ser)
|
rs587784400
|
|
|
NM_001379110.1(SLC9A6):c.27del (p.Lys9fs)
|
rs587784398
|
|
|
NM_001379110.1(SLC9A6):c.370-9_370-5del
|
rs796053290
|
|
|
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs)
|
rs775168204
|
|
|
NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del)
|
rs371849586
|
|
|
NM_001379500.1(COL18A1):c.3311C>G (p.Pro1104Arg)
|
rs187670025
|
|
|
NM_001379500.1(COL18A1):c.352A>C (p.Met118Leu)
|
rs200702024
|
|
|
NM_001379500.1(COL18A1):c.837C>A (p.Pro279=)
|
rs2230687
|
|
|
NM_001382289.1(FSHB):c.236_237del (p.Val79fs)
|
rs5030646
|
|
|
NM_001382347.1(MYO5A):c.5619C>T (p.Gly1873=)
|
rs797045731
|
|
|
NM_001382391.1(CSPP1):c.-150A>C
|
rs370569030
|
|
|
NM_001382391.1(CSPP1):c.1022+5A>C
|
rs797045503
|
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
|
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)
|
rs587777145
|
|
|
NM_001382391.1(CSPP1):c.2829-9_2968+11del
|
rs1554614893
|
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
|
NM_001384732.1(CPLANE1):c.3626A>C (p.Gln1209Pro)
|
rs762591555
|
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
|
NM_001384732.1(CPLANE1):c.8663+2T>C
|
rs2150365416
|
|
|
NM_001386140.1(MTTP):c.708_709del (p.His236fs)
|
rs1553926818
|
|
|
NM_001386298.1(CIC):c.5257C>T (p.Pro1753Ser)
|
rs2147271133
|
|
|
NM_001386298.1(CIC):c.7517C>A (p.Pro2506Gln)
|
rs747297469
|
|
|
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)
|
rs754521581
|
|
|
NM_001395413.1(POR):c.1239+10del
|
rs797045899
|
|
|
NM_001395413.1(POR):c.1405G>A (p.Val469Met)
|
rs72557946
|
|
|
NM_001395413.1(POR):c.1577C>T (p.Thr526Met)
|
rs782248163
|
|
|
NM_001395413.1(POR):c.562G>A (p.Val188Met)
|
rs201513102
|
|
|
NM_001395413.1(POR):c.562G>C (p.Val188Leu)
|
rs201513102
|
|
|
NM_001395891.1(CLASP1):c.196-604C>T
|
rs181195449
|
|
|
NM_001414.4(EIF2B1):c.131G>A (p.Gly44Asp)
|
|
|
|
NM_001415.4(EIF2S3):c.280C>A (p.Pro94Thr)
|
rs761305657
|
|
|
NM_001415.4(EIF2S3):c.374A>G (p.Lys125Arg)
|
rs16997659
|
|
|
NM_001429.4(EP300):c.*10GTA[1]
|
rs35508493
|
|
|
NM_001429.4(EP300):c.1529-8T>C
|
rs587783621
|
|
|
NM_001429.4(EP300):c.3665C>A (p.Pro1222His)
|
rs7285319
|
|
|
NM_001429.4(EP300):c.3807-4T>G
|
rs1337278789
|
|
|
NM_001429.4(EP300):c.3807-7C>T
|
|
|
|
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter)
|
rs1569118537
|
|
|
NM_001429.4(EP300):c.4836dup (p.Val1613fs)
|
rs797045559
|
|
|
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln)
|
rs755471385
|
|
|
NM_001429.4(EP300):c.6177_6185dup (p.Arg2059_Pro2061dup)
|
rs2145519648
|
|
|
NM_001429.4(EP300):c.6820C>G (p.Gln2274Glu)
|
|
|
|
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs)
|
rs797045560
|
|
|
NM_001429.4(EP300):c.7041_7046del (p.His2348_Pro2349del)
|
rs2145523559
|
|
|
NM_001429.4(EP300):c.7245G>A (p.Ter2415=)
|
rs587783622
|
|
|
NM_001429.4(EP300):c.730-5C>T
|
|
|
|
NM_001429.4(EP300):c.907-17_907-8del
|
rs797045561
|
|
|
NM_001447.3(FAT2):c.11392T>C (p.Phe3798Leu)
|
rs2127575779
|
|
|
NM_001447.3(FAT2):c.8257A>G (p.Lys2753Glu)
|
rs2127606295
|
|
|
NM_001465.6(FYB1):c.2068T>C (p.Leu690=)
|
|
|
|
NM_001478.5(B4GALNT1):c.515_518delinsAC (p.Gly172fs)
|
rs2140249957
|
|
|
NM_001493.3(GDI1):c.193T>A (p.Ser65Thr)
|
rs1557198307
|
|
|
NM_001493.3(GDI1):c.587+6G>A
|
rs1557198604
|
|
|
NM_001493.3(GDI1):c.991+7C>T
|
rs202152861
|
|
|
NM_001543.5(NDST1):c.101C>G (p.Ser34Trp)
|
rs1264818846
|
|
|
NM_001543.5(NDST1):c.143C>G (p.Ser48Trp)
|
rs754000766
|
|
|
NM_001543.5(NDST1):c.1661C>T (p.Thr554Met)
|
rs2151293810
|
|
|
NM_001543.5(NDST1):c.1749+8dup
|
rs528143978
|
|
|
NM_001543.5(NDST1):c.2095G>C (p.Val699Leu)
|
rs2151299499
|
|
|
NM_001543.5(NDST1):c.817C>T (p.His273Tyr)
|
rs1261991074
|
|
|
NM_001551.3(IGBP1):c.872-4T>G
|
rs1556221755
|
|
|
NM_001561.6(TNFRSF9):c.447T>C (p.Asn149=)
|
rs1342683475
|
|
|
NM_001614.5(ACTG1):c.1039G>T (p.Ala347Ser)
|
rs1555666373
|
|
|
NM_001614.5(ACTG1):c.15C>T (p.Ile5=)
|
rs199657153
|
|
|
NM_001614.5(ACTG1):c.324C>T (p.Ala108=)
|
rs550936698
|
|
|
NM_001614.5(ACTG1):c.414C>T (p.Ala138=)
|
rs143978597
|
|
|
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr)
|
rs11549196
|
|
|
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)
|
rs281875326
|
|
|
NM_001614.5(ACTG1):c.520G>T (p.Ala174Ser)
|
rs587780274
|
|
|
NM_001614.5(ACTG1):c.558C>T (p.Thr186=)
|
rs142893042
|
|
|
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile)
|
rs587780275
|
|
|
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
|
rs281875328
|
|
|
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)
|
rs281875329
|
|
|
NM_001614.5(ACTG1):c.879G>A (p.Leu293=)
|
rs781806224
|
|
|
NM_001614.5(ACTG1):c.985-5dup
|
rs782289893
|
|
|
NM_001626.6(AKT2):c.708+7C>T
|
rs375480876
|
|
|
NM_001626.6(AKT2):c.861C>A (p.Gly287=)
|
rs587780277
|
|
|
NM_001626.6(AKT2):c.960G>A (p.Glu320=)
|
rs587780278
|
|
|
NM_001643.2(APOA2):c.53-43TG[17]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[21]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[22]
|
rs17244502
|
|
|
NM_001673.5(ASNS):c.1030+1G>A
|
rs780288372
|
|
|
NM_001673.5(ASNS):c.413A>T (p.Asp138Val)
|
rs797045306
|
|
|
NM_001673.5(ASNS):c.478del (p.Glu160fs)
|
rs797045307
|
|
|
NM_001673.5(ASNS):c.97C>T (p.Arg33Cys)
|
rs759224338
|
|
|
NM_001710.6(CFB):c.1524C>T (p.His508=)
|
rs138207668
|
|
|
NM_001715.3(BLK):c.1363C>G (p.Pro455Ala)
|
|
|
|
NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)
|
rs587780295
|
|
|
NM_001754.5(RUNX1):c.1142_1145dup (p.Pro383fs)
|
rs2145876252
|
|
|
NM_001754.5(RUNX1):c.1196G>T (p.Ser399Ile)
|
rs946348885
|
|
|
NM_001754.5(RUNX1):c.1218C>T (p.Tyr406=)
|
rs2056453805
|
|
|
NM_001754.5(RUNX1):c.1219T>A (p.Tyr407Asn)
|
rs1262717333
|
|
|
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)
|
rs2056451534
|
|
|
NM_001754.5(RUNX1):c.1396A>G (p.Met466Val)
|
rs762213305
|
|
|
NM_001754.5(RUNX1):c.170C>T (p.Pro57Leu)
|
rs1266842690
|
|
|
NM_001754.5(RUNX1):c.252C>G (p.Asp84Glu)
|
rs2058000249
|
|
|
NM_001754.5(RUNX1):c.316T>A (p.Trp106Arg)
|
rs1555899735
|
|
|
NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys)
|
rs2057998063
|
|
|
NM_001754.5(RUNX1):c.351+1G>A
|
rs1060502579
|
|
|
NM_001754.5(RUNX1):c.508G>C (p.Gly170Arg)
|
rs2146360175
|
|
|
NM_001754.5(RUNX1):c.557T>A (p.Val186Asp)
|
rs797045927
|
|
|
NM_001754.5(RUNX1):c.59-12_59-11del
|
rs762416613
|
|
|
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)
|
rs1057519748
|
|
|
NM_001754.5(RUNX1):c.830del (p.Pro277fs)
|
rs2145909826
|
|
|
NM_001754.5(RUNX1):c.939_950del (p.Ala315_Ser318del)
|
rs748122795
|
|
|
NM_001754.5(RUNX1):c.968C>T (p.Thr323Met)
|
rs1039736738
|
|
|
NM_001754.5(RUNX1):c.999dup (p.Arg334fs)
|
rs2145878129
|
|
|
NM_001754.5(RUNX1):c.99T>C (p.Asp33=)
|
rs762090330
|
|
|
NM_001759.4(CCND2):c.851T>A (p.Val284Glu)
|
rs777786993
|
|
|
NM_001807.6(CEL):c.-13G>A
|
rs2119054429
|
|
|
NM_001807.6(CEL):c.1932G>C (p.Gly644=)
|
rs587780307
|
|
|
NM_001807.6(CEL):c.1960T>G (p.Ser654Ala)
|
rs587780308
|
|
|
NM_001807.6(CEL):c.61G>T (p.Ala21Ser)
|
rs558100781
|
|
|
NM_001807.6(CEL):c.687C>T (p.Asn229=)
|
rs1554732495
|
|
|
NM_001807.6(CEL):c.723C>T (p.Gly241=)
|
|
|
|
NM_001807.6(CEL):c.7C>T (p.Arg3Cys)
|
rs201383133
|
|
|
NM_001807.6(CEL):c.99G>C (p.Val33=)
|
rs199971842
|
|
|
NM_001813.3(CENPE):c.1566A>G (p.Glu522=)
|
rs1553935539
|
|
|
NM_001813.3(CENPE):c.5563C>T (p.Gln1855Ter)
|
rs1214805862
|
|
|
NM_001813.3(CENPE):c.7173T>G (p.His2391Gln)
|
rs1195686700
|
|
|
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp)
|
rs879255584
|
|
|
NM_001830.4(CLCN4):c.244+4C>T
|
rs192492405
|
|
|
NM_001843.4(CNTN1):c.2823+2TA[2]
|
rs797045475
|
|
|
NM_001845.6(COL4A1):c.1819G>C (p.Gly607Arg)
|
rs1555304112
|
|
|
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
|
rs1878248687
|
|
|
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu)
|
rs1555303720
|
|
|
NM_001846.4(COL4A2):c.3263G>A (p.Gly1088Asp)
|
rs2139533967
|
|
|
NM_001848.3(COL6A1):c.1003-2A>G
|
rs797045477
|
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
|
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)
|
rs144671871
|
|
|
NM_001848.3(COL6A1):c.905G>T (p.Gly302Val)
|
rs1556425566
|
|
|
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)
|
rs11554669
|
|
|
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu)
|
rs398123650
|
|
|
NM_001849.4(COL6A2):c.892G>A (p.Gly298Arg)
|
rs797045478
|
|
|
NM_001849.4(COL6A2):c.902G>T (p.Gly301Val)
|
rs1555872965
|
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
|
NM_001904.4(CTNNB1):c.1785C>T (p.Thr595=)
|
rs587780325
|
|
|
NM_001904.4(CTNNB1):c.2042C>T (p.Ser681Phe)
|
rs772401455
|
|
|
NM_001904.4(CTNNB1):c.2079del (p.Ala694fs)
|
rs2125650519
|
|
|
NM_001904.4(CTNNB1):c.2182G>C (p.Ala728Pro)
|
rs797045504
|
|
|
NM_001904.4(CTNNB1):c.427_470dup (p.Lys158_Leu159insMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys)
|
rs1553630304
|
|
|
NM_001904.4(CTNNB1):c.442C>G (p.Leu148Val)
|
rs2125620944
|
|
|
NM_001904.4(CTNNB1):c.642C>G (p.Thr214=)
|
rs3856747
|
|
|
NM_001905.4(CTPS1):c.556-9G>T
|
rs200737909
|
|
|
NM_001927.4(DES):c.1A>G (p.Met1Val)
|
rs1057523274
|
|
|
NM_001927.4(DES):c.466G>A (p.Glu156Lys)
|
rs765471098
|
|
|
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)
|
rs782704553
|
|
|
NM_001940.4(ATN1):c.1469_1476del (p.Gln490fs)
|
rs797045320
|
|
|
NM_001940.4(ATN1):c.1471_1472insCAGCAG (p.Gln491delinsProAlaGlu)
|
rs797045321
|
|
|
NM_001940.4(ATN1):c.1472_1476del (p.Gln491fs)
|
rs797045322
|
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
|
NM_001961.4(EEF2):c.1169C>T (p.Pro390Leu)
|
rs763170059
|
|
|
NM_001972.4(ELANE):c.338A>T (p.Asn113Ile)
|
rs773808780
|
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
|
NM_001972.4(ELANE):c.418G>T (p.Ala140Ser)
|
|
|
|
NM_001972.4(ELANE):c.597+1G>A
|
rs1555710005
|
|
|
NM_001972.4(ELANE):c.606C>T (p.Ser202=)
|
rs17216649
|
|
|
NM_001972.4(ELANE):c.68-12G>T
|
rs1380161253
|
|
|
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe)
|
rs201224216
|
|
|
NM_001972.4(ELANE):c.768C>T (p.His256=)
|
rs199932636
|
|
|
NM_001987.5(ETV6):c.1075_1086dup (p.Arg359_Asp362dup)
|
rs2136595805
|
|
|
NM_001987.5(ETV6):c.1132C>T (p.Arg378Ter)
|
rs1947157785
|
|
|
NM_001987.5(ETV6):c.1153-1_1165del
|
rs2136602093
|
|
|
NM_001987.5(ETV6):c.1153-2_1165del
|
rs2136602130
|
|
|
NM_001987.5(ETV6):c.1153-7C>T
|
rs745510752
|
|
|
NM_001987.5(ETV6):c.1153A>T (p.Asn385Tyr)
|
rs2136602139
|
|
|
NM_001987.5(ETV6):c.1196G>A (p.Arg399His)
|
rs2136602321
|
|
|
NM_001987.5(ETV6):c.119C>T (p.Ala40Val)
|
|
|
|
NM_001987.5(ETV6):c.1218_1220del (p.Ile407del)
|
rs2136602398
|
|
|
NM_001987.5(ETV6):c.210C>T (p.Leu70=)
|
rs1453904386
|
|
|
NM_001987.5(ETV6):c.329-4C>A
|
rs752427976
|
|
|
NM_001987.5(ETV6):c.354G>T (p.Gln118His)
|
rs2136490850
|
|
|
NM_001987.5(ETV6):c.421C>T (p.His141Tyr)
|
rs146150601
|
|
|
NM_001987.5(ETV6):c.573G>A (p.Arg191=)
|
rs35030220
|
|
|
NM_001987.5(ETV6):c.614del (p.Leu205fs)
|
rs1555144911
|
|
|
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)
|
rs724159947
|
|
|
NM_001987.5(ETV6):c.669G>T (p.Pro223=)
|
rs746757399
|
|
|
NM_001987.5(ETV6):c.82G>A (p.Ala28Thr)
|
rs34966596
|
|
|
NM_001987.5(ETV6):c.872G>A (p.Arg291Lys)
|
|
|
|
NM_001999.4(FBN2):c.1961G>C (p.Arg654Pro)
|
rs780589159
|
|
|
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser)
|
rs149733159
|
|
|
NM_001999.4(FBN2):c.4461A>T (p.Arg1487Ser)
|
rs797045573
|
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
|
NM_001999.4(FBN2):c.7547C>T (p.Ser2516Leu)
|
rs797045574
|
|
|
NM_001999.4(FBN2):c.809G>A (p.Arg270His)
|
rs148971572
|
|
|
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp)
|
rs1064797083
|
|
|
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln)
|
rs1064797086
|
|
|
NM_002024.6(FMR1):c.522T>A (p.Asn174Lys)
|
rs782265090
|
|
|
NM_002025.4(AFF2):c.1034C>T (p.Thr345Ile)
|
rs199510763
|
|
|
NM_002025.4(AFF2):c.1118C>G (p.Thr373Ser)
|
rs587780276
|
|
|
NM_002025.4(AFF2):c.1133C>G (p.Ala378Gly)
|
rs797045218
|
|
|
NM_002025.4(AFF2):c.2702C>A (p.Ser901Tyr)
|
rs782757734
|
|
|
NM_002025.4(AFF2):c.292C>A (p.Pro98Thr)
|
rs797045219
|
|
|
NM_002025.4(AFF2):c.3081C>T (p.Thr1027=)
|
rs797045220
|
|
|
NM_002025.4(AFF2):c.3697G>A (p.Val1233Ile)
|
rs1557291713
|
|
|
NM_002049.4(GATA1):c.890T>C (p.Met297Thr)
|
rs2147307504
|
|
|
NM_002049.4(GATA1):c.93G>T (p.Gly31=)
|
rs368193049
|
|
|
NM_002055.5(GFAP):c.834del (p.Lys279fs)
|
rs2145634253
|
|
|
NM_002087.4(GRN):c.1672_1673delinsGA (p.Cys558Asp)
|
rs2143350279
|
|
|
NM_002168.4(IDH2):c.*10C>T
|
rs954587473
|
|
|
NM_002168.4(IDH2):c.1017G>C (p.Gly339=)
|
rs1227526639
|
|
|
NM_002168.4(IDH2):c.1194G>A (p.Leu398=)
|
rs755291689
|
|
|
NM_002168.4(IDH2):c.622G>A (p.Glu208Lys)
|
rs761404149
|
|
|
NM_002168.4(IDH2):c.695C>T (p.Ala232Val)
|
rs1227626398
|
|
|
NM_002206.3(ITGA7):c.1088dup (p.His364fs)
|
rs587780362
|
|
|
NM_002206.3(ITGA7):c.285G>T (p.Pro95=)
|
rs17854601
|
|
|
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu)
|
rs139069413
|
|
|
NM_002291.3(LAMB1):c.1153C>G (p.Pro385Ala)
|
rs535788456
|
|
|
NM_002291.3(LAMB1):c.1422C>G (p.Ser474=)
|
rs780369106
|
|
|
NM_002291.3(LAMB1):c.2682C>T (p.Asn894=)
|
rs376978331
|
|
|
NM_002292.4(LAMB2):c.5026_5027delinsAT (p.Gly1676Ile)
|
rs1575526216
|
|
|
NM_002303.6(LEPR):c.165G>C (p.Lys55Asn)
|
rs2100804678
|
|
|
NM_002303.6(LEPR):c.1742T>C (p.Val581Ala)
|
rs2100964693
|
|
|
NM_002303.6(LEPR):c.2034A>T (p.Arg678Ser)
|
rs377399607
|
|
|
NM_002303.6(LEPR):c.2642G>T (p.Cys881Phe)
|
rs992720162
|
|
|
NM_002303.6(LEPR):c.3495_3496del (p.Ter1166IleextTer?)
|
rs756571131
|
|
|
NM_002303.6(LEPR):c.893T>C (p.Ile298Thr)
|
|
|
|
NM_002334.4(LRP4):c.3774C>T (p.Leu1258=)
|
rs2134796703
|
|
|
NM_002335.4(LRP5):c.1952G>A (p.Ser651Asn)
|
|
|
|
NM_002335.4(LRP5):c.4458G>A (p.Ser1486=)
|
rs75571306
|
|
|
NM_002351.5(SH2D1A):c.201+3A>G
|
rs2147531380
|
|
|
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=)
|
rs72610640
|
|
|
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)
|
rs72610640
|
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
|
NM_002354.3(EPCAM):c.614A>G (p.Asn205Ser)
|
rs2103757155
|
|
|
NM_002361.4(MAG):c.416-6_418dup
|
rs1555763342
|
|
|
NM_002382.5(MAX):c.346C>T (p.Pro116Ser)
|
rs1186625283
|
|
|
NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe)
|
rs607159
|
|
|
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
|
rs545185248
|
|
|
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)
|
rs1554150543
|
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
|
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer)
|
rs587783749
|
|
|
NM_002435.3(MPI):c.602T>C (p.Leu201Pro)
|
rs2064752971
|
|
|
NM_002439.5(MSH3):c.161_162insCGCAGCGGC (p.Ala62_Pro63insAlaAlaAla)
|
|
|
|
NM_002465.4(MYBPC1):c.1365G>A (p.Leu455=)
|
rs1555241240
|
|
|
NM_002465.4(MYBPC1):c.2510T>G (p.Val837Gly)
|
rs1555250509
|
|
|
NM_002470.4(MYH3):c.1480A>G (p.Met494Val)
|
rs797045726
|
|
|
NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp)
|
rs797045727
|
|
|
NM_002470.4(MYH3):c.1802C>T (p.Pro601Leu)
|
rs797045728
|
|
|
NM_002470.4(MYH3):c.2083C>A (p.Arg695=)
|
rs767298033
|
|
|
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=)
|
rs2285475
|
|
|
NM_002470.4(MYH3):c.379A>G (p.Asn127Asp)
|
rs797045729
|
|
|
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr)
|
rs34393601
|
|
|
NM_002472.3(MYH8):c.3019del (p.Gln1007fs)
|
rs750008371
|
|
|
NM_002472.3(MYH8):c.3117G>A (p.Gly1039=)
|
rs3744553
|
|
|
NM_002472.3(MYH8):c.3254+1G>T
|
rs372740784
|
|
|
NM_002472.3(MYH8):c.387C>T (p.Asn129=)
|
rs754559937
|
|
|
NM_002472.3(MYH8):c.4537del (p.Ser1513fs)
|
rs1459072387
|
|
|
NM_002473.6(MYH9):c.1561C>T (p.Pro521Ser)
|
rs1452533167
|
|
|
NM_002473.6(MYH9):c.257T>A (p.Met86Lys)
|
rs774334908
|
|
|
NM_002473.6(MYH9):c.3451A>G (p.Thr1151Ala)
|
rs2146338652
|
|
|
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)
|
rs80338829
|
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
|
NM_002473.6(MYH9):c.4271A>T (p.Asp1424Val)
|
rs867593888
|
|
|
NM_002473.6(MYH9):c.4542T>G (p.Asp1514Glu)
|
rs1445705225
|
|
|
NM_002473.6(MYH9):c.4679T>G (p.Val1560Gly)
|
rs1064794326
|
|
|
NM_002473.6(MYH9):c.467C>G (p.Thr156Ser)
|
rs931698088
|
|
|
NM_002474.3(MYH11):c.2809_2810del (p.Arg937fs)
|
rs749497185
|
|
|
NM_002474.3(MYH11):c.3422_3470del (p.Lys1141fs)
|
rs797045725
|
|
|
NM_002485.5(NBN):c.-2C>A
|
rs202104448
|
|
|
NM_002485.5(NBN):c.1018_1019delinsAA (p.Pro340Lys)
|
rs2129746753
|
|
|
NM_002485.5(NBN):c.1398-10dup
|
rs587780555
|
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
|
NM_002485.5(NBN):c.1604C>T (p.Ser535Phe)
|
rs2129700282
|
|
|
NM_002485.5(NBN):c.1836C>G (p.Ser612Arg)
|
rs2129695819
|
|
|
NM_002485.5(NBN):c.1845+10A>G
|
rs570914185
|
|
|
NM_002485.5(NBN):c.1947G>A (p.Met649Ile)
|
rs1554556579
|
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
|
NM_002485.5(NBN):c.2082T>C (p.Pro694=)
|
rs7823648
|
|
|
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr)
|
rs1060503461
|
|
|
NM_002485.5(NBN):c.2140C>A (p.Arg714=)
|
rs730881864
|
|
|
NM_002485.5(NBN):c.598C>T (p.Leu200Phe)
|
rs2129839627
|
|
|
NM_002485.5(NBN):c.649G>A (p.Glu217Lys)
|
rs760275251
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
|
NM_002485.5(NBN):c.896+10dup
|
rs763938484
|
|
|
NM_002509.4(NKX2-2):c.108C>A (p.Asn36Lys)
|
rs201064818
|
|
|
NM_002509.4(NKX2-2):c.296C>T (p.Ser99Leu)
|
rs2122541165
|
|
|
NM_002509.4(NKX2-2):c.33G>T (p.Ser11=)
|
rs139958556
|
|
|
NM_002519.3(NPAT):c.*1091G>C
|
rs183226283
|
|
|
NM_002519.3(NPAT):c.*1355CA[1]
|
rs1207478974
|
|
|
NM_002519.3(NPAT):c.*1472_*1478del
|
rs1443063182
|
|
|
NM_002519.3(NPAT):c.*370C>T
|
rs2134813735
|
|
|
NM_002519.3(NPAT):c.*836_*837del
|
rs200169344
|
|
|
NM_002519.3(NPAT):c.1085A>G (p.Asp362Gly)
|
|
|
|
NM_002519.3(NPAT):c.1541C>T (p.Ser514Leu)
|
|
|
|
NM_002519.3(NPAT):c.2172T>C (p.Pro724=)
|
rs1261971124
|
|
|
NM_002519.3(NPAT):c.2238T>A (p.Asp746Glu)
|
rs201541696
|
|
|
NM_002519.3(NPAT):c.2446A>G (p.Thr816Ala)
|
rs34027029
|
|
|
NM_002519.3(NPAT):c.2760A>G (p.Gln920=)
|
rs2134834493
|
|
|
NM_002519.3(NPAT):c.2867A>G (p.Gln956Arg)
|
rs1193920145
|
|
|
NM_002519.3(NPAT):c.2910T>C (p.His970=)
|
rs2134830919
|
|
|
NM_002519.3(NPAT):c.2973T>G (p.Ser991=)
|
rs2134830774
|
|
|
NM_002519.3(NPAT):c.3199G>A (p.Asp1067Asn)
|
rs79119325
|
|
|
NM_002519.3(NPAT):c.364C>G (p.Arg122Gly)
|
rs199851567
|
|
|
NM_002519.3(NPAT):c.3994G>A (p.Ala1332Thr)
|
rs2134817610
|
|
|
NM_002519.3(NPAT):c.4242G>A (p.Met1414Ile)
|
rs2134814344
|
|
|
NM_002519.3(NPAT):c.526A>G (p.Asn176Asp)
|
|
|
|
NM_002520.7(NPM1):c.522A>G (p.Glu174=)
|
|
|
|
NM_002520.7(NPM1):c.737A>G (p.Asp246Gly)
|
|
|
|
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu)
|
rs797045795
|
|
|
NM_002547.3(OPHN1):c.1081G>C (p.Glu361Gln)
|
rs1555952056
|
|
|
NM_002547.3(OPHN1):c.1749A>C (p.Ala583=)
|
rs35137641
|
|
|
NM_002547.3(OPHN1):c.1946G>A (p.Gly649Glu)
|
rs1555930507
|
|
|
NM_002547.3(OPHN1):c.2159-4C>T
|
rs587784233
|
|
|
NM_002547.3(OPHN1):c.249C>T (p.Ile83=)
|
rs143598006
|
|
|
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter)
|
rs587784234
|
|
|
NM_002547.3(OPHN1):c.903G>C (p.Thr301=)
|
rs370014854
|
|
|
NM_002578.5(PAK3):c.1468G>A (p.Ala490Thr)
|
rs1295610191
|
|
|
NM_002582.4(PARN):c.1006-2A>G
|
rs1469272825
|
|
|
NM_002582.4(PARN):c.1185T>C (p.Asn395=)
|
rs2151750892
|
|
|
NM_002582.4(PARN):c.1257dup (p.Asn420Ter)
|
rs942538351
|
|
|
NM_002582.4(PARN):c.1624del (p.Gln542fs)
|
rs1341745986
|
|
|
NM_002582.4(PARN):c.1754A>C (p.Glu585Ala)
|
rs1961230346
|
|
|
NM_002582.4(PARN):c.24del (p.Phe8fs)
|
rs1555512179
|
|
|
NM_002582.4(PARN):c.328-9_328-8del
|
rs1555509518
|
|
|
NM_002582.4(PARN):c.388+5G>T
|
|
|
|
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)
|
rs760506977
|
|
|
NM_002582.4(PARN):c.811dup (p.Ser271fs)
|
rs2151779880
|
|
|
NM_002609.4(PDGFRB):c.1642delinsATGCTTATCA (p.Ser548delinsMetLeuIleThr)
|
rs2113898258
|
|
|
NM_002633.3(PGM1):c.1531_1532inv (p.Gly511Pro)
|
|
|
|
NM_002633.3(PGM1):c.741G>A (p.Ser247=)
|
rs142222746
|
|
|
NM_002666.5(PLIN1):c.1111C>T (p.Pro371Ser)
|
rs1964355244
|
|
|
NM_002666.5(PLIN1):c.1556G>C (p.Arg519Pro)
|
rs746427650
|
|
|
NM_002666.5(PLIN1):c.580C>G (p.Pro194Ala)
|
rs6496589
|
|
|
NM_002691.4(POLD1):c.1059G>A (p.Leu353=)
|
rs1601204466
|
|
|
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys)
|
rs960226186
|
|
|
NM_002691.4(POLD1):c.1321A>T (p.Thr441Ser)
|
rs1601215588
|
|
|
NM_002691.4(POLD1):c.1756G>A (p.Val586Ile)
|
rs1601221294
|
|
|
NM_002691.4(POLD1):c.1932C>T (p.Asp644=)
|
rs80214209
|
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
|
NM_002691.4(POLD1):c.2565-7C>T
|
rs2039243107
|
|
|
NM_002691.4(POLD1):c.2960A>C (p.Asp987Ala)
|
rs2122495383
|
|
|
NM_002691.4(POLD1):c.3305del (p.Pro1102fs)
|
rs761614971
|
|
|
NM_002691.4(POLD1):c.410_413del (p.Val137fs)
|
rs2038649098
|
|
|
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.2606G>A (p.Arg869Gln)
|
rs1356604153
|
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
|
NM_002693.3(POLG):c.3293A>C (p.Asn1098Thr)
|
rs587780421
|
|
|
NM_002693.3(POLG):c.3700C>A (p.Arg1234=)
|
rs144346886
|
|
|
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)
|
rs2307437
|
|
|
NM_002732.4(PRKACG):c.449A>G (p.Gln150Arg)
|
rs147576281
|
|
|
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)
|
rs797045900
|
|
|
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)
|
rs386134159
|
|
|
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)
|
rs1555806333
|
|
|
NM_002739.5(PRKCG):c.479G>T (p.Arg160Leu)
|
rs1555807032
|
|
|
NM_002764.4(PRPS1):c.641G>A (p.Arg214Gln)
|
rs867288458
|
|
|
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=)
|
rs532529560
|
|
|
NM_002834.5(PTPN11):c.1303G>A (p.Val435Met)
|
rs1054802954
|
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
|
NM_002834.5(PTPN11):c.1741G>A (p.Glu581Lys)
|
rs2135930858
|
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
|
NM_002834.5(PTPN11):c.36T>C (p.Thr12=)
|
rs760086740
|
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
|
NM_002843.4(PTPRJ):c.1621A>T (p.Ser541Cys)
|
|
|
|
NM_002843.4(PTPRJ):c.3502A>G (p.Met1168Val)
|
|
|
|
NM_002875.5(RAD51):c.613T>C (p.Tyr205His)
|
rs1555429486
|
|
|
NM_002875.5(RAD51):c.655C>T (p.Leu219Phe)
|
rs2141882131
|
|
|
NM_002875.5(RAD51):c.793A>G (p.Ile265Val)
|
rs2141883371
|
|
|
NM_002875.5(RAD51):c.80G>T (p.Arg27Leu)
|
rs778132081
|
|
|
NM_002875.5(RAD51):c.885A>G (p.Ala295=)
|
rs779197451
|
|
|
NM_002875.5(RAD51):c.896+6del
|
rs544409089
|
|
|
NM_002875.5(RAD51):c.914del (p.Gly305fs)
|
rs2141886936
|
|
|
NM_002878.4(RAD51D):c.632T>A (p.Val211Glu)
|
rs2142420542
|
|
|
NM_002878.4(RAD51D):c.802T>A (p.Trp268Arg)
|
rs755965977
|
|
|
NM_002894.3(RBBP8):c.1223_1228del (p.Ile408_Asn409del)
|
rs757747543
|
|
|
NM_002894.3(RBBP8):c.1865G>A (p.Gly622Glu)
|
rs587780433
|
|
|
NM_002894.3(RBBP8):c.191A>G (p.Gln64Arg)
|
rs2144488699
|
|
|
NM_002894.3(RBBP8):c.220C>T (p.His74Tyr)
|
|
|
|
NM_002894.3(RBBP8):c.2383C>G (p.His795Asp)
|
rs1555648960
|
|
|
NM_002894.3(RBBP8):c.553C>G (p.Arg185Gly)
|
rs771541058
|
|
|
NM_002894.3(RBBP8):c.604+1G>T
|
rs587780432
|
|
|
NM_002936.6(RNASEH1):c.604A>T (p.Ile202Phe)
|
rs766567428
|
|
|
NM_002948.5(RPL15):c.101C>T (p.Ser34Phe)
|
|
|
|
NM_002948.5(RPL15):c.320G>C (p.Gly107Ala)
|
rs2125255748
|
|
|
NM_002948.5(RPL15):c.436C>G (p.Pro146Ala)
|
|
|
|
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del)
|
rs113614842
|
|
|
NM_003000.3(SDHB):c.148G>A (p.Asp50Asn)
|
rs1060503765
|
|
|
NM_003002.4(SDHD):c.269C>T (p.Ala90Val)
|
rs200255724
|
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
|
NM_003002.4(SDHD):c.91A>G (p.Ile31Val)
|
rs1865653068
|
|
|
NM_003036.4(SKI):c.104C>G (p.Pro35Arg)
|
rs397514589
|
|
|
NM_003036.4(SKI):c.893C>G (p.Ala298Gly)
|
rs1233215789
|
|
|
NM_003038.5(SLC1A4):c.1313T>C (p.Ile438Thr)
|
rs141895894
|
|
|
NM_003038.5(SLC1A4):c.917T>C (p.Val306Ala)
|
|
|
|
NM_003042.4(SLC6A1):c.1324-2del
|
rs2124936720
|
|
|
NM_003051.3(SLC16A1):c.-246dup
|
rs58047463
|
|
|
NM_003051.4(SLC16A1):c.-141G>A
|
rs1019919361
|
|
|
NM_003051.4(SLC16A1):c.-158C>G
|
rs546484922
|
|
|
NM_003051.4(SLC16A1):c.1058A>G (p.Tyr353Cys)
|
rs767557808
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[13]
|
rs149491709
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[9]
|
rs149491709
|
|
|
NM_003070.5(SMARCA2):c.1296G>C (p.Leu432=)
|
rs764443050
|
|
|
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp)
|
rs1554623112
|
|
|
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile)
|
rs797045974
|
|
|
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln)
|
rs281875188
|
|
|
NM_003070.5(SMARCA2):c.2762G>T (p.Gly921Val)
|
rs1196279821
|
|
|
NM_003070.5(SMARCA2):c.2853G>C (p.Lys951Asn)
|
rs1554624100
|
|
|
NM_003070.5(SMARCA2):c.3192G>A (p.Ala1064=)
|
rs770885495
|
|
|
NM_003070.5(SMARCA2):c.3385G>C (p.Gly1129Arg)
|
rs797045975
|
|
|
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys)
|
rs797045976
|
|
|
NM_003070.5(SMARCA2):c.4218G>A (p.Val1406=)
|
rs558384854
|
|
|
NM_003070.5(SMARCA2):c.4479C>G (p.Ile1493Met)
|
rs111380592
|
|
|
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=)
|
rs146359524
|
|
|
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238dup)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[19] (p.Gln233_Gln238dup)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[5] (p.Gln231_Gln238del)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.795G>A (p.Pro265=)
|
rs1554616965
|
|
|
NM_003072.5(SMARCA4):c.*9A>T
|
rs369766168
|
|
|
NM_003072.5(SMARCA4):c.1118+7del
|
rs774132615
|
|
|
NM_003072.5(SMARCA4):c.120C>T (p.His40=)
|
rs375884151
|
|
|
NM_003072.5(SMARCA4):c.1521_1523dup (p.His508dup)
|
rs2145940595
|
|
|
NM_003072.5(SMARCA4):c.223-4G>A
|
rs763383326
|
|
|
NM_003072.5(SMARCA4):c.2584T>G (p.Tyr862Asp)
|
rs2146375696
|
|
|
NM_003072.5(SMARCA4):c.2647G>A (p.Gly883Ser)
|
rs1568486679
|
|
|
NM_003072.5(SMARCA4):c.2837C>G (p.Pro946Arg)
|
rs1555778830
|
|
|
NM_003072.5(SMARCA4):c.2859+8T>G
|
rs1555778883
|
|
|
NM_003072.5(SMARCA4):c.2890ATC[1] (p.Ile965del)
|
rs797045979
|
|
|
NM_003072.5(SMARCA4):c.2896C>T (p.Arg966Trp)
|
rs1227826852
|
|
|
NM_003072.5(SMARCA4):c.2922del (p.Phe975fs)
|
rs797045980
|
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
|
NM_003072.5(SMARCA4):c.3021C>T (p.Leu1007=)
|
rs1555780015
|
|
|
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)
|
rs770014321
|
|
|
NM_003072.5(SMARCA4):c.3475G>A (p.Gly1159Arg)
|
rs2146600812
|
|
|
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs)
|
rs797045982
|
|
|
NM_003072.5(SMARCA4):c.3732C>T (p.Arg1244=)
|
rs797045983
|
|
|
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly)
|
rs797045984
|
|
|
NM_003072.5(SMARCA4):c.3783C>G (p.His1261Gln)
|
rs797045985
|
|
|
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn)
|
rs796506759
|
|
|
NM_003072.5(SMARCA4):c.4414T>G (p.Tyr1472Asp)
|
rs797045986
|
|
|
NM_003072.5(SMARCA4):c.4620C>T (p.Asn1540=)
|
rs751869068
|
|
|
NM_003072.5(SMARCA4):c.4667del (p.Val1556fs)
|
rs797045987
|
|
|
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6])
|
rs568390760
|
|
|
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala)
|
rs797045988
|
|
|
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)
|
rs797045989
|
|
|
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)
|
rs1568963037
|
|
|
NM_003073.5(SMARCB1):c.1150G>C (p.Ala384Pro)
|
rs2146045278
|
|
|
NM_003073.5(SMARCB1):c.432C>T (p.Ala144=)
|
rs1601401868
|
|
|
NM_003073.5(SMARCB1):c.741C>G (p.Ser247=)
|
rs534183354
|
|
|
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)
|
rs387906857
|
|
|
NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs)
|
rs797045990
|
|
|
NM_003106.4(SOX2):c.150G>A (p.Val50=)
|
rs145732415
|
|
|
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3])
|
rs751221446
|
|
|
NM_003108.4(SOX11):c.225C>T (p.His75=)
|
rs1304574596
|
|
|
NM_003108.4(SOX11):c.456_467del (p.Gly153_Gly156del)
|
rs774530705
|
|
|
NM_003108.4(SOX11):c.510C>A (p.Leu170=)
|
rs1042190394
|
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
|
NM_003119.4(SPG7):c.1075G>C (p.Ala359Pro)
|
rs1031614168
|
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
|
NM_003119.4(SPG7):c.2254C>G (p.His752Asp)
|
rs1555618072
|
|
|
NM_003119.4(SPG7):c.473_474del (p.Leu158fs)
|
rs879253798
|
|
|
NM_003119.4(SPG7):c.861dup (p.Asn288Ter)
|
rs797046003
|
|
|
NM_003140.3(SRY):c.11A>G (p.Tyr4Cys)
|
rs2124486424
|
|
|
NM_003140.3(SRY):c.313G>A (p.Glu105Lys)
|
rs2124486069
|
|
|
NM_003140.3(SRY):c.331C>T (p.Gln111Ter)
|
rs1556370543
|
|
|
NM_003159.2(CDKL5):c.65dupG
|
rs267608420
|
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
|
NM_003179.3(SYP):c.869G>A (p.Gly290Glu)
|
rs587780477
|
|
|
NM_003194.4(TBP):c.223_281delins50 (p.?)
|
|
|
|
NM_003194.4(TBP):c.223_281delins53 (p.?)
|
|
|
|
NM_003235.5(TG):c.266dup (p.Val90fs)
|
rs1554649344
|
|
|
NM_003235.5(TG):c.7396C>G (p.Gln2466Glu)
|
rs1481485390
|
|
|
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)
|
rs104894312
|
|
|
NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)
|
rs104894311
|
|
|
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)
|
rs797046046
|
|
|
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)
|
rs199476153
|
|
|
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg)
|
rs1556235551
|
|
|
NM_003355.3(UCP2):c.864C>T (p.Phe288=)
|
|
|
|
NM_003356.4(UCP3):c.126+1G>T
|
|
|
|
NM_003356.4(UCP3):c.63C>G (p.Gly21=)
|
rs181883754
|
|
|
NM_003361.4(UMOD):c.276C>G (p.Cys92Trp)
|
|
|
|
NM_003383.5(VLDLR):c.*8G>T
|
rs772294761
|
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
|
NM_003383.5(VLDLR):c.1150G>A (p.Ala384Thr)
|
rs1554621358
|
|
|
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu)
|
rs144724569
|
|
|
NM_003383.5(VLDLR):c.2223T>C (p.Asn741=)
|
rs374758758
|
|
|
NM_003383.5(VLDLR):c.2322A>T (p.Gly774=)
|
rs770771918
|
|
|
NM_003383.5(VLDLR):c.2587A>G (p.Ile863Val)
|
rs751464256
|
|
|
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr)
|
rs797046092
|
|
|
NM_003383.5(VLDLR):c.471C>T (p.Asp157=)
|
rs138649440
|
|
|
NM_003383.5(VLDLR):c.78A>T (p.Gly26=)
|
rs1554617758
|
|
|
NM_003384.3(VRK1):c.184G>A (p.Val62Ile)
|
rs1555360117
|
|
|
NM_003392.7(WNT5A):c.141-8C>G
|
rs188798140
|
|
|
NM_003392.7(WNT5A):c.141-9C>G
|
rs181894008
|
|
|
NM_003392.7(WNT5A):c.141-9C>T
|
rs181894008
|
|
|
NM_003392.7(WNT5A):c.405G>T (p.Thr135=)
|
rs147104982
|
|
|
NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg)
|
rs587784562
|
|
|
NM_003466.4(PAX8):c.160A>T (p.Ser54Cys)
|
rs104893660
|
|
|
NM_003467.3(CXCR4):c.1012_1015dup (p.Ser339fs)
|
rs2104915543
|
|
|
NM_003467.3(CXCR4):c.475G>A (p.Gly159Ser)
|
rs910532454
|
|
|
NM_003467.3(CXCR4):c.984C>T (p.Ile328=)
|
rs777888690
|
|
|
NM_003482.4(KMT2D):c.10355+12G>A
|
rs886262865
|
|
|
NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys)
|
rs1555189207
|
|
|
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup)
|
rs398123707
|
|
|
NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter)
|
rs587783681
|
|
|
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter)
|
rs587783682
|
|
|
NM_003482.4(KMT2D):c.11386del (p.Gln3796fs)
|
rs587783683
|
|
|
NM_003482.4(KMT2D):c.11563G>C (p.Ala3855Pro)
|
rs77538244
|
|
|
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del)
|
rs576788910
|
|
|
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup)
|
rs576788910
|
|
|
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del)
|
rs759803583
|
|
|
NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter)
|
rs797045658
|
|
|
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter)
|
rs587783685
|
|
|
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=)
|
rs905791071
|
|
|
NM_003482.4(KMT2D):c.12768C>T (p.Leu4256=)
|
rs71464946
|
|
|
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs)
|
rs587783686
|
|
|
NM_003482.4(KMT2D):c.12956_12957del (p.Arg4319fs)
|
rs587783687
|
|
|
NM_003482.4(KMT2D):c.12962C>A (p.Ser4321Ter)
|
rs587783688
|
|
|
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs)
|
rs587783689
|
|
|
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter)
|
rs587783690
|
|
|
NM_003482.4(KMT2D):c.13518del (p.Ser4507fs)
|
rs587783691
|
|
|
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter)
|
rs587783692
|
|
|
NM_003482.4(KMT2D):c.13671+10dup
|
rs147210845
|
|
|
NM_003482.4(KMT2D):c.1377_1403del (p.Ala464_Glu472del)
|
rs1376080610
|
|
|
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs)
|
rs587783693
|
|
|
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)
|
rs398123721
|
|
|
NM_003482.4(KMT2D):c.14839C>T (p.Pro4947Ser)
|
rs1406097470
|
|
|
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)
|
rs587783695
|
|
|
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter)
|
rs797045659
|
|
|
NM_003482.4(KMT2D):c.15184T>C (p.Cys5062Arg)
|
rs2120362837
|
|
|
NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter)
|
rs587783696
|
|
|
NM_003482.4(KMT2D):c.15245T>G (p.Val5082Gly)
|
rs75031009
|
|
|
NM_003482.4(KMT2D):c.15361G>T (p.Ala5121Ser)
|
rs79330925
|
|
|
NM_003482.4(KMT2D):c.15370A>G (p.Met5124Val)
|
|
|
|
NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser)
|
rs779303083
|
|
|
NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter)
|
rs587783697
|
|
|
NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter)
|
rs587783698
|
|
|
NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter)
|
rs587783699
|
|
|
NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp)
|
rs587783700
|
|
|
NM_003482.4(KMT2D):c.16412+16del
|
rs34546217
|
|
|
NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser)
|
rs587783702
|
|
|
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs)
|
rs587783703
|
|
|
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)
|
rs587783704
|
|
|
NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter)
|
rs587783705
|
|
|
NM_003482.4(KMT2D):c.1899G>T (p.Ser633=)
|
rs769981040
|
|
|
NM_003482.4(KMT2D):c.1978T>G (p.Ser660Ala)
|
rs1938044612
|
|
|
NM_003482.4(KMT2D):c.2078C>A (p.Pro693His)
|
rs76663644
|
|
|
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1])
|
rs398123736
|
|
|
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1])
|
rs587778449
|
|
|
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1])
|
rs587783707
|
|
|
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del)
|
rs375538882
|
|
|
NM_003482.4(KMT2D):c.2317del (p.Gln773fs)
|
rs1565817210
|
|
|
NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter)
|
rs587783708
|
|
|
NM_003482.4(KMT2D):c.2657C>T (p.Pro886Leu)
|
rs587783709
|
|
|
NM_003482.4(KMT2D):c.2798-7del
|
rs112620957
|
|
|
NM_003482.4(KMT2D):c.288G>C (p.Val96=)
|
rs587783710
|
|
|
NM_003482.4(KMT2D):c.2954_2955insT (p.Pro986fs)
|
rs797045660
|
|
|
NM_003482.4(KMT2D):c.303del (p.Ser102fs)
|
rs797045661
|
|
|
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter)
|
rs587783711
|
|
|
NM_003482.4(KMT2D):c.3553C>T (p.Gln1185Ter)
|
rs587783712
|
|
|
NM_003482.4(KMT2D):c.3585dup (p.Pro1196fs)
|
rs797045662
|
|
|
NM_003482.4(KMT2D):c.3591del (p.Thr1198fs)
|
rs797045663
|
|
|
NM_003482.4(KMT2D):c.3695del (p.Pro1232fs)
|
rs587783713
|
|
|
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter)
|
rs727503987
|
|
|
NM_003482.4(KMT2D):c.3803A>C (p.Asp1268Ala)
|
rs74643880
|
|
|
NM_003482.4(KMT2D):c.3813A>G (p.Leu1271=)
|
rs201794205
|
|
|
NM_003482.4(KMT2D):c.400+1G>C
|
rs587783714
|
|
|
NM_003482.4(KMT2D):c.400+7_400+8insC
|
rs797045664
|
|
|
NM_003482.4(KMT2D):c.401-11del
|
rs745388553
|
|
|
NM_003482.4(KMT2D):c.4021-15CT[2]
|
rs55776244
|
|
|
NM_003482.4(KMT2D):c.4083G>C (p.Gln1361His)
|
rs764941
|
|
|
NM_003482.4(KMT2D):c.4131G>C (p.Gln1377His)
|
rs764942
|
|
|
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs)
|
rs398123744
|
|
|
NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter)
|
rs1555195441
|
|
|
NM_003482.4(KMT2D):c.4221del (p.Cys1408fs)
|
rs587783715
|
|
|
NM_003482.4(KMT2D):c.4343G>A (p.Cys1448Tyr)
|
rs587783716
|
|
|
NM_003482.4(KMT2D):c.4366T>A (p.Cys1456Ser)
|
rs797045666
|
|
|
NM_003482.4(KMT2D):c.4418+5G>A
|
rs587783717
|
|
|
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr)
|
rs587783718
|
|
|
NM_003482.4(KMT2D):c.4739del (p.Pro1580fs)
|
rs587783719
|
|
|
NM_003482.4(KMT2D):c.4981dup (p.Glu1661fs)
|
rs797045667
|
|
|
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter)
|
rs1555194045
|
|
|
NM_003482.4(KMT2D):c.5592C>A (p.Gly1864=)
|
rs587783720
|
|
|
NM_003482.4(KMT2D):c.5598A>C (p.Pro1866=)
|
rs2120563844
|
|
|
NM_003482.4(KMT2D):c.5713C>T (p.Gln1905Ter)
|
rs2120560322
|
|
|
NM_003482.4(KMT2D):c.6020A>C (p.Glu2007Ala)
|
rs587783722
|
|
|
NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs)
|
rs1555198491
|
|
|
NM_003482.4(KMT2D):c.6086del (p.Pro2029fs)
|
rs587783723
|
|
|
NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter)
|
rs556669370
|
|
|
NM_003482.4(KMT2D):c.6171dup (p.Ala2058fs)
|
rs797045668
|
|
|
NM_003482.4(KMT2D):c.6172del (p.Ala2058fs)
|
rs797045669
|
|
|
NM_003482.4(KMT2D):c.6276C>T (p.Asp2092=)
|
rs1388239595
|
|
|
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)
|
rs398123753
|
|
|
NM_003482.4(KMT2D):c.6613delinsAA (p.Ala2205fs)
|
rs2120542630
|
|
|
NM_003482.4(KMT2D):c.6670_6674del (p.Gly2224fs)
|
rs587783725
|
|
|
NM_003482.4(KMT2D):c.709G>T (p.Glu237Ter)
|
rs1159611979
|
|
|
NM_003482.4(KMT2D):c.7377C>T (p.Ser2459=)
|
rs1208811629
|
|
|
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=)
|
rs201218526
|
|
|
NM_003482.4(KMT2D):c.7981C>T (p.Leu2661Phe)
|
rs1370465303
|
|
|
NM_003482.4(KMT2D):c.8047-7dup
|
rs200754433
|
|
|
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter)
|
rs587783727
|
|
|
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs)
|
rs587783728
|
|
|
NM_003482.4(KMT2D):c.8317T>C (p.Ser2773Pro)
|
rs1001660551
|
|
|
NM_003482.4(KMT2D):c.8360A>C (p.Asn2787Thr)
|
rs78415116
|
|
|
NM_003482.4(KMT2D):c.836dup (p.Cys279fs)
|
rs797045670
|
|
|
NM_003482.4(KMT2D):c.8445_8475dup (p.Ala2826fs)
|
rs797045671
|
|
|
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)
|
rs587783729
|
|
|
NM_003482.4(KMT2D):c.9347C>T (p.Pro3116Leu)
|
rs1249007323
|
|
|
NM_003482.4(KMT2D):c.9540del (p.Glu3181fs)
|
rs797045672
|
|
|
NM_003482.4(KMT2D):c.968G>A (p.Cys323Tyr)
|
rs78617409
|
|
|
NM_003502.4(AXIN1):c.2370C>T (p.Cys790=)
|
|
|
|
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg)
|
rs587784327
|
|
|
NM_003560.4(PLA2G6):c.1349-2A>G
|
rs797045888
|
|
|
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)
|
rs1555988382
|
|
|
NM_003560.4(PLA2G6):c.1509del (p.Ser504fs)
|
rs587784333
|
|
|
NM_003560.4(PLA2G6):c.1591+11C>A
|
rs587784335
|
|
|
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs)
|
rs587784336
|
|
|
NM_003560.4(PLA2G6):c.1778C>A (p.Pro593Gln)
|
rs1451486649
|
|
|
NM_003560.4(PLA2G6):c.1973A>C (p.Asn658Thr)
|
rs587784340
|
|
|
NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser)
|
rs1555978219
|
|
|
NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser)
|
rs587784341
|
|
|
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu)
|
rs369038599
|
|
|
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)
|
rs587784343
|
|
|
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)
|
rs587784346
|
|
|
NM_003560.4(PLA2G6):c.2202+5G>A
|
rs587784348
|
|
|
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser)
|
rs587784351
|
|
|
NM_003560.4(PLA2G6):c.2327_2328del (p.Thr776fs)
|
rs587784352
|
|
|
NM_003560.4(PLA2G6):c.2396T>A (p.Leu799His)
|
rs587784354
|
|
|
NM_003560.4(PLA2G6):c.478T>C (p.Cys160Arg)
|
rs587784355
|
|
|
NM_003560.4(PLA2G6):c.4C>A (p.Gln2Lys)
|
rs587784356
|
|
|
NM_003560.4(PLA2G6):c.517C>T (p.Gln173Ter)
|
rs587784357
|
|
|
NM_003560.4(PLA2G6):c.658G>C (p.Gly220Arg)
|
rs587784358
|
|
|
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr)
|
rs587784359
|
|
|
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del)
|
rs587784360
|
|
|
NM_003560.4(PLA2G6):c.755del (p.Asn252fs)
|
rs587784361
|
|
|
NM_003560.4(PLA2G6):c.786C>T (p.Phe262=)
|
rs546742857
|
|
|
NM_003560.4(PLA2G6):c.821T>G (p.Met274Arg)
|
rs587784362
|
|
|
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup)
|
rs797045889
|
|
|
NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg)
|
rs587784364
|
|
|
NM_003597.5(KLF11):c.333C>T (p.Ser111=)
|
rs749888867
|
|
|
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)
|
rs312262868
|
|
|
NM_003611.3(OFD1):c.1332del (p.Lys444fs)
|
rs587784231
|
|
|
NM_003611.3(OFD1):c.1654+5G>C
|
rs1555906316
|
|
|
NM_003611.3(OFD1):c.1829A>G (p.Asn610Ser)
|
rs373706613
|
|
|
NM_003611.3(OFD1):c.2052C>T (p.Ser684=)
|
rs61742891
|
|
|
NM_003611.3(OFD1):c.231A>C (p.Leu77Phe)
|
rs587784232
|
|
|
NM_003611.3(OFD1):c.2546T>G (p.Met849Arg)
|
|
|
|
NM_003611.3(OFD1):c.2619T>A (p.Ile873=)
|
rs797045847
|
|
|
NM_003611.3(OFD1):c.2631G>A (p.Lys877=)
|
rs797045848
|
|
|
NM_003611.3(OFD1):c.2758-4A>G
|
rs1555908820
|
|
|
NM_003611.3(OFD1):c.877_878del (p.Met293fs)
|
rs312262858
|
|
|
NM_003619.4(PRSS12):c.1492T>A (p.Phe498Ile)
|
rs797045901
|
|
|
NM_003619.4(PRSS12):c.1746A>G (p.Gln582=)
|
rs777027226
|
|
|
NM_003619.4(PRSS12):c.1917-9del
|
rs770190361
|
|
|
NM_003619.4(PRSS12):c.192_193dup (p.Phe65fs)
|
rs1243970842
|
|
|
NM_003619.4(PRSS12):c.1946G>A (p.Arg649Gln)
|
rs771497164
|
|
|
NM_003619.4(PRSS12):c.19G>A (p.Val7Met)
|
rs148007619
|
|
|
NM_003619.4(PRSS12):c.2415A>C (p.Arg805Ser)
|
rs1742891794
|
|
|
NM_003619.4(PRSS12):c.243G>C (p.Gln81His)
|
rs797045902
|
|
|
NM_003619.4(PRSS12):c.2588C>T (p.Ser863Leu)
|
rs2126024960
|
|
|
NM_003619.4(PRSS12):c.428G>A (p.Gly143Asp)
|
rs1553959294
|
|
|
NM_003647.3(DGKE):c.233C>G (p.Ala78Gly)
|
rs775804689
|
|
|
NM_003647.3(DGKE):c.744+17del
|
rs561537916
|
|
|
NM_003664.5(AP3B1):c.1875T>A (p.Thr625=)
|
rs1305099986
|
|
|
NM_003664.5(AP3B1):c.1933G>A (p.Asp645Asn)
|
rs797045241
|
|
|
NM_003664.5(AP3B1):c.2673G>T (p.Gln891His)
|
rs770455413
|
|
|
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn)
|
rs201179527
|
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
|
NM_003730.6(RNASET2):c.710dup (p.Leu238fs)
|
rs763295910
|
|
|
NM_003742.4(ABCB11):c.3834C>G (p.Ser1278=)
|
rs1374522673
|
|
|
NM_003793.4(CTSF):c.843_844del (p.Ala282fs)
|
rs1555058286
|
|
|
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)
|
rs397514731
|
|
|
NM_003801.4(GPAA1):c.1258C>T (p.Gln420Ter)
|
rs2129946524
|
|
|
NM_003805.5(CRADD):c.151C>A (p.Leu51Ile)
|
rs4332566
|
|
|
NM_003805.5(CRADD):c.285dup (p.Asp96fs)
|
rs1555213545
|
|
|
NM_003849.4(SUCLG1):c.507del (p.Asn171fs)
|
rs797046017
|
|
|
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)
|
rs121908489
|
|
|
NM_003922.4(HERC1):c.13157A>T (p.Tyr4386Phe)
|
rs1566950331
|
|
|
NM_003922.4(HERC1):c.13808T>C (p.Leu4603Pro)
|
rs2152730050
|
|
|
NM_003922.4(HERC1):c.4637-5T>C
|
rs756546393
|
|
|
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)
|
rs775006915
|
|
|
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr)
|
rs587783645
|
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
|
NM_004004.6(GJB2):c.314_329del (p.Lys105fs)
|
rs797045596
|
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
|
NM_004004.6(GJB2):c.470T>C (p.Met157Thr)
|
rs727504789
|
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
|
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)
|
rs111033335
|
|
|
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
|
NM_004006.2:c.7661-14207_7700delinsCTGTTGCCTCCGGTTCTG
|
|
|
|
NM_004006.3(DMD):c.6614+3310G>T
|
rs797045526
|
|
|
NM_004035.7(ACOX1):c.551C>G (p.Ser184Ter)
|
rs780887410
|
|
|
NM_004056.6(CA8):c.449T>C (p.Phe150Ser)
|
rs780978826
|
|
|
NM_004064.5(CDKN1B):c.277C>T (p.Arg93Trp)
|
rs140167393
|
|
|
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr)
|
rs137985549
|
|
|
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)
|
rs397514498
|
|
|
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)
|
rs397514499
|
|
|
NM_004113.6(FGF12):c.229-8del
|
rs34265167
|
|
|
NM_004113.6(FGF12):c.229-9_229-8del
|
rs34265167
|
|
|
NM_004153.4(ORC1):c.1083-4G>C
|
rs797045850
|
|
|
NM_004153.4(ORC1):c.1295C>G (p.Pro432Arg)
|
rs1467460972
|
|
|
NM_004153.4(ORC1):c.2405A>G (p.His802Arg)
|
rs587780411
|
|
|
NM_004153.4(ORC1):c.2518G>A (p.Asp840Asn)
|
rs587780412
|
|
|
NM_004153.4(ORC1):c.308T>C (p.Leu103Ser)
|
rs587780410
|
|
|
NM_004153.4(ORC1):c.625G>A (p.Ala209Thr)
|
rs1553148123
|
|
|
NM_004153.4(ORC1):c.703A>G (p.Lys235Glu)
|
rs797045851
|
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
|
NM_004168.4(SDHA):c.1274T>G (p.Val425Gly)
|
rs200047573
|
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
|
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)
|
rs1042446
|
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
|
NM_004168.4(SDHA):c.428C>T (p.Thr143Met)
|
rs200675907
|
|
|
NM_004171.4(SLC1A2):c.1179A>G (p.Gly393=)
|
rs148798506
|
|
|
NM_004187.5(KDM5C):c.1495G>A (p.Val499Met)
|
rs797045639
|
|
|
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu)
|
rs587780372
|
|
|
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)
|
rs35353912
|
|
|
NM_004187.5(KDM5C):c.2243G>C (p.Arg748Pro)
|
rs797045640
|
|
|
NM_004187.5(KDM5C):c.2517-9_2517-7dup
|
rs398124111
|
|
|
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter)
|
rs782246658
|
|
|
NM_004187.5(KDM5C):c.3300+9T>G
|
rs1556835859
|
|
|
NM_004187.5(KDM5C):c.608C>T (p.Pro203Leu)
|
rs797045641
|
|
|
NM_004247.4(EFTUD2):c.1149+1G>C
|
rs797045550
|
|
|
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)
|
rs797045551
|
|
|
NM_004247.4(EFTUD2):c.1414-3del
|
rs2145470655
|
|
|
NM_004247.4(EFTUD2):c.2005A>G (p.Thr669Ala)
|
rs2145447918
|
|
|
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter)
|
rs1555564341
|
|
|
NM_004247.4(EFTUD2):c.426G>A (p.Lys142=)
|
rs1555569606
|
|
|
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp)
|
rs387906877
|
|
|
NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg)
|
rs944826681
|
|
|
NM_004260.4(RECQL4):c.1270_1271delinsAT (p.Asp424Ile)
|
rs2130708945
|
|
|
NM_004260.4(RECQL4):c.148C>G (p.Arg50Gly)
|
rs1325079305
|
|
|
NM_004260.4(RECQL4):c.1494G>A (p.Thr498=)
|
rs557281237
|
|
|
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val)
|
rs764297840
|
|
|
NM_004260.4(RECQL4):c.1852del (p.Arg618fs)
|
rs909588820
|
|
|
NM_004260.4(RECQL4):c.2429_2431del (p.Gln810del)
|
rs2130676571
|
|
|
NM_004260.4(RECQL4):c.2557TGCACC[2] (p.853CT[2])
|
rs548804317
|
|
|
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4])
|
rs548804317
|
|
|
NM_004260.4(RECQL4):c.2601C>G (p.Ala867=)
|
rs34358597
|
|
|
NM_004260.4(RECQL4):c.2768T>C (p.Leu923Ser)
|
|
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
|
NM_004260.4(RECQL4):c.3353G>A (p.Gly1118Asp)
|
rs1276726206
|
|
|
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His)
|
rs61755067
|
|
|
NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del)
|
rs758966528
|
|
|
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=)
|
rs56341125
|
|
|
NM_004260.4(RECQL4):c.465C>G (p.Val155=)
|
rs116137512
|
|
|
NM_004260.4(RECQL4):c.674C>T (p.Ser225Leu)
|
rs753959069
|
|
|
NM_004268.5(MED17):c.1418C>T (p.Ser473Phe)
|
rs587780393
|
|
|
NM_004268.5(MED17):c.337T>C (p.Tyr113His)
|
rs1555031931
|
|
|
NM_004268.5(MED17):c.761C>T (p.Ser254Phe)
|
rs369349413
|
|
|
NM_004278.4(PIGL):c.169T>C (p.Phe57Leu)
|
rs587784324
|
|
|
NM_004278.4(PIGL):c.426+8G>A
|
rs145914582
|
|
|
NM_004278.4(PIGL):c.652C>G (p.Gln218Glu)
|
rs139004722
|
|
|
NM_004304.5(ALK):c.1372C>T (p.His458Tyr)
|
|
|
|
NM_004304.5(ALK):c.26_27delinsCG (p.Leu9Pro)
|
rs1558550306
|
|
|
NM_004304.5(ALK):c.4727A>G (p.His1576Arg)
|
rs2148137340
|
|
|
NM_004304.5(ALK):c.782G>A (p.Arg261Gln)
|
rs375097381
|
|
|
NM_004329.3(BMPR1A):c.1347C>A (p.Ile449=)
|
rs1057520966
|
|
|
NM_004329.3(BMPR1A):c.1550T>C (p.Ile517Thr)
|
rs1554891667
|
|
|
NM_004329.3(BMPR1A):c.564T>G (p.Arg188=)
|
rs2133544332
|
|
|
NM_004360.5(CDH1):c.2076_2077inv (p.Gly693Ser)
|
|
|
|
NM_004360.5(CDH1):c.2439A>T (p.Glu813Asp)
|
rs1413760846
|
|
|
NM_004360.5(CDH1):c.304G>T (p.Ala102Ser)
|
rs368492235
|
|
|
NM_004360.5(CDH1):c.786C>T (p.Phe262=)
|
rs876658994
|
|
|
NM_004364.5(CEBPA):c.119dup (p.Gln41fs)
|
rs1555742295
|
|
|
NM_004364.5(CEBPA):c.260_261dup (p.Gln88fs)
|
rs2145263441
|
|
|
NM_004364.5(CEBPA):c.27G>T (p.Ala9=)
|
rs1555742328
|
|
|
NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del)
|
rs780345232
|
|
|
NM_004364.5(CEBPA):c.324C>T (p.Tyr108=)
|
rs1555742221
|
|
|
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs)
|
rs1555742213
|
|
|
NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg)
|
rs1007915253
|
|
|
NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2])
|
rs762459325
|
|
|
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4])
|
rs762459325
|
|
|
NM_004364.5(CEBPA):c.576G>T (p.Pro192=)
|
rs878854703
|
|
|
NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro)
|
rs1555742103
|
|
|
NM_004364.5(CEBPA):c.579C>T (p.His193=)
|
rs1260660049
|
|
|
NM_004364.5(CEBPA):c.914A>C (p.Gln305Pro)
|
rs1479225242
|
|
|
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.6181C>T (p.Arg2061Ter)
|
rs797045479
|
|
|
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His)
|
rs36104025
|
|
|
NM_004380.2(CREBBP):c.(?_-23)_85+?del
|
|
|
|
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)
|
rs587783460
|
|
|
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)
|
rs587783461
|
|
|
NM_004380.3(CREBBP):c.1211G>C (p.Cys404Ser)
|
rs587783462
|
|
|
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)
|
rs1302427305
|
|
|
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter)
|
rs587783463
|
|
|
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)
|
rs587783464
|
|
|
NM_004380.3(CREBBP):c.1590del (p.Asn530fs)
|
rs587783465
|
|
|
NM_004380.3(CREBBP):c.1821del (p.Lys607fs)
|
rs587783467
|
|
|
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro)
|
rs587783468
|
|
|
NM_004380.3(CREBBP):c.2026del (p.Gln676fs)
|
rs587783469
|
|
|
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs)
|
rs587783470
|
|
|
NM_004380.3(CREBBP):c.2178dup (p.Met727fs)
|
rs797045483
|
|
|
NM_004380.3(CREBBP):c.2208A>G (p.Gln736=)
|
rs1300711905
|
|
|
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)
|
rs587783471
|
|
|
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro)
|
rs587783472
|
|
|
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs)
|
rs587783473
|
|
|
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs)
|
rs797045484
|
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
|
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)
|
rs587783475
|
|
|
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs)
|
rs797045485
|
|
|
NM_004380.3(CREBBP):c.282dup (p.Val95fs)
|
rs797045486
|
|
|
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)
|
rs587783476
|
|
|
NM_004380.3(CREBBP):c.299del (p.Gly100fs)
|
rs587783477
|
|
|
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys)
|
rs797045487
|
|
|
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer)
|
rs797045488
|
|
|
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)
|
rs587783478
|
|
|
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)
|
rs587783479
|
|
|
NM_004380.3(CREBBP):c.3369+1G>T
|
rs587783480
|
|
|
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter)
|
rs797045489
|
|
|
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs)
|
rs797045490
|
|
|
NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs)
|
rs797045491
|
|
|
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)
|
rs797045492
|
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
|
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)
|
rs587783482
|
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
|
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu)
|
rs587783484
|
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
|
NM_004380.3(CREBBP):c.3836+1G>A
|
rs200782888
|
|
|
NM_004380.3(CREBBP):c.3914+1G>T
|
rs1555475352
|
|
|
NM_004380.3(CREBBP):c.3914+3G>T
|
rs587783485
|
|
|
NM_004380.3(CREBBP):c.3982+1G>A
|
rs398124145
|
|
|
NM_004380.3(CREBBP):c.3983-2A>G
|
rs587783486
|
|
|
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg)
|
rs587783487
|
|
|
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)
|
rs587783488
|
|
|
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter)
|
rs587783489
|
|
|
NM_004380.3(CREBBP):c.4062C>G (p.Ala1354=)
|
|
|
|
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)
|
rs587783490
|
|
|
NM_004380.3(CREBBP):c.4133+1G>A
|
rs587783491
|
|
|
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)
|
rs587783492
|
|
|
NM_004380.3(CREBBP):c.4267C>T (p.Pro1423Ser)
|
rs797045493
|
|
|
NM_004380.3(CREBBP):c.4281-11C>G
|
rs587783493
|
|
|
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)
|
rs797045494
|
|
|
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)
|
rs587783494
|
|
|
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)
|
rs147688139
|
|
|
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)
|
rs587783495
|
|
|
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)
|
rs587783496
|
|
|
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)
|
rs587783497
|
|
|
NM_004380.3(CREBBP):c.4560+7G>A
|
rs587783498
|
|
|
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs)
|
rs587783499
|
|
|
NM_004380.3(CREBBP):c.4729-14G>C
|
rs130008
|
|
|
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs)
|
rs587783500
|
|
|
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu)
|
rs587783501
|
|
|
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter)
|
rs797045495
|
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
|
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)
|
rs587783503
|
|
|
NM_004380.3(CREBBP):c.5064G>A (p.Thr1688=)
|
|
|
|
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln)
|
rs797045496
|
|
|
NM_004380.3(CREBBP):c.5714C>A (p.Pro1905His)
|
|
|
|
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)
|
rs587783505
|
|
|
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs)
|
rs587783506
|
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
|
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs)
|
rs587783508
|
|
|
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=)
|
rs370565083
|
|
|
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs)
|
rs797045498
|
|
|
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)
|
rs587783509
|
|
|
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter)
|
rs587783510
|
|
|
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs)
|
rs797045499
|
|
|
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del)
|
rs587783511
|
|
|
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs)
|
rs797045500
|
|
|
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup)
|
rs779647460
|
|
|
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.7098G>C (p.Arg2366=)
|
rs587783513
|
|
|
NM_004380.3(CREBBP):c.71C>T (p.Ala24Val)
|
rs797045501
|
|
|
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs)
|
rs797045502
|
|
|
NM_004380.3(CREBBP):c.86-1G>T
|
rs11644721
|
|
|
NM_004380.3(CREBBP):c.86-2A>C
|
rs587783515
|
|
|
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter)
|
rs587783516
|
|
|
NM_004387.4(NKX2-5):c.*61G>T
|
rs703752
|
|
|
NM_004387.4(NKX2-5):c.471_472del (p.Phe157fs)
|
rs587784066
|
|
|
NM_004387.4(NKX2-5):c.478_480delinsGTACCGTT (p.Gln160fs)
|
rs797045790
|
|
|
NM_004387.4(NKX2-5):c.512T>G (p.Leu171Arg)
|
rs797045791
|
|
|
NM_004387.4(NKX2-5):c.554G>T (p.Trp185Leu)
|
rs797045792
|
|
|
NM_004387.4(NKX2-5):c.635C>A (p.Pro212Gln)
|
rs372282873
|
|
|
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)
|
rs587784067
|
|
|
NM_004393.6(DAG1):c.1251T>C (p.Ala417=)
|
rs2107935604
|
|
|
NM_004393.6(DAG1):c.1782C>T (p.His594=)
|
rs1553653277
|
|
|
NM_004415.4(DSP):c.6767G>A (p.Gly2256Asp)
|
rs2113701022
|
|
|
NM_004426.3(PHC1):c.2710G>T (p.Val904Leu)
|
rs2137138532
|
|
|
NM_004429.5(EFNB1):c.128+2T>A
|
rs1556096780
|
|
|
NM_004429.5(EFNB1):c.129-1G>T
|
rs2147976439
|
|
|
NM_004429.5(EFNB1):c.131T>C (p.Phe44Ser)
|
rs1556105849
|
|
|
NM_004429.5(EFNB1):c.175A>C (p.Lys59Gln)
|
rs797045549
|
|
|
NM_004429.5(EFNB1):c.523C>T (p.Gln175Ter)
|
rs1556107856
|
|
|
NM_004429.5(EFNB1):c.562_563del (p.Thr188fs)
|
rs1556107925
|
|
|
NM_004456.5(EZH2):c.118-4del
|
rs3214332
|
|
|
NM_004456.5(EZH2):c.1876G>A (p.Val626Met)
|
rs587783625
|
|
|
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys)
|
rs587783626
|
|
|
NM_004456.5(EZH2):c.2110+6T>C
|
rs41277434
|
|
|
NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)
|
rs797045568
|
|
|
NM_004456.5(EZH2):c.2236A>G (p.Arg746Gly)
|
rs587783627
|
|
|
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)
|
rs122453121
|
|
|
NM_004493.3(HSD17B10):c.366C>T (p.Leu122=)
|
rs797045616
|
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
|
NM_004523.4(KIF11):c.-1_2delinsAA (p.Met1fs)
|
rs797045649
|
|
|
NM_004523.4(KIF11):c.112del (p.His38fs)
|
rs1554859309
|
|
|
NM_004523.4(KIF11):c.1305G>A (p.Arg435=)
|
rs1554861552
|
|
|
NM_004523.4(KIF11):c.179A>T (p.Lys60Met)
|
rs1298166671
|
|
|
NM_004523.4(KIF11):c.2018dup (p.Glu674fs)
|
rs1589604288
|
|
|
NM_004523.4(KIF11):c.2059del (p.His687fs)
|
rs1554862197
|
|
|
NM_004523.4(KIF11):c.2105del (p.Lys702fs)
|
rs2135919274
|
|
|
NM_004523.4(KIF11):c.2160+1G>T
|
rs1554862218
|
|
|
NM_004523.4(KIF11):c.2461T>C (p.Ser821Pro)
|
rs2135923469
|
|
|
NM_004523.4(KIF11):c.2548-1G>A
|
rs1554863016
|
|
|
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
|
|
|
|
NM_004523.4(KIF11):c.436A>T (p.Lys146Ter)
|
rs797045650
|
|
|
NM_004523.4(KIF11):c.699-7_705del
|
rs797045651
|
|
|
NM_004523.4(KIF11):c.868C>T (p.Gln290Ter)
|
rs1554859966
|
|
|
NM_004525.3(LRP2):c.1018C>G (p.His340Asp)
|
rs777908550
|
|
|
NM_004525.3(LRP2):c.11276del (p.Cys3759fs)
|
rs2105276037
|
|
|
NM_004525.3(LRP2):c.12125G>A (p.Arg4042His)
|
rs199874294
|
|
|
NM_004525.3(LRP2):c.13139del (p.Pro4380fs)
|
rs80338754
|
|
|
NM_004525.3(LRP2):c.3973T>C (p.Cys1325Arg)
|
rs797045683
|
|
|
NM_004525.3(LRP2):c.402C>A (p.Pro134=)
|
rs34104660
|
|
|
NM_004525.3(LRP2):c.4766G>A (p.Arg1589His)
|
rs587780385
|
|
|
NM_004525.3(LRP2):c.6040+4_6040+7del
|
rs2105343563
|
|
|
NM_004525.3(LRP2):c.7715+3A>T
|
rs797045684
|
|
|
NM_004525.3(LRP2):c.775G>C (p.Gly259Arg)
|
rs34693334
|
|
|
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)
|
rs41277835
|
|
|
NM_004560.4(ROR2):c.298G>A (p.Ala100Thr)
|
rs374692105
|
|
|
NM_004560.4(ROR2):c.463+10A>G
|
rs2118848019
|
|
|
NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs)
|
rs797045920
|
|
|
NM_004586.3(RPS6KA3):c.1334A>G (p.Asn445Ser)
|
rs1555931252
|
|
|
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)
|
rs2068650679
|
|
|
NM_004586.3(RPS6KA3):c.225G>T (p.Gly75=)
|
rs1555950495
|
|
|
NM_004586.3(RPS6KA3):c.594-10dup
|
rs755566588
|
|
|
NM_004586.3(RPS6KA3):c.632-3C>T
|
rs797045921
|
|
|
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)
|
rs11466445
|
|
|
NM_004615.4(TSPAN7):c.190G>A (p.Gly64Arg)
|
rs1556001023
|
|
|
NM_004615.4(TSPAN7):c.516C>A (p.Pro172=)
|
rs142657644
|
|
|
NM_004629.2(FANCG):c.-8C>T
|
rs1274386572
|
|
|
NM_004629.2(FANCG):c.1086C>G (p.Asp362Glu)
|
rs376623996
|
|
|
NM_004629.2(FANCG):c.948C>A (p.Ser316=)
|
rs2131055519
|
|
|
NM_004629.2(FANCG):c.984A>G (p.Leu328=)
|
rs375991144
|
|
|
NM_004646.4(NPHS1):c.1104G>T (p.Pro368=)
|
|
|
|
NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs)
|
rs1351986946
|
|
|
NM_004656.4(BAP1):c.1588del (p.Val530fs)
|
rs2153226657
|
|
|
NM_004656.4(BAP1):c.1717del (p.Leu573fs)
|
rs869025212
|
|
|
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter)
|
rs1253151209
|
|
|
NM_004656.4(BAP1):c.2183G>T (p.Arg728Leu)
|
rs773230722
|
|
|
NM_004656.4(BAP1):c.272dup (p.Cys91fs)
|
rs2153228146
|
|
|
NM_004656.4(BAP1):c.358A>T (p.Lys120Ter)
|
rs774573926
|
|
|
NM_004656.4(BAP1):c.458_459del (p.Pro153fs)
|
rs1559590613
|
|
|
NM_004656.4(BAP1):c.566A>G (p.Tyr189Cys)
|
rs1578226365
|
|
|
NM_004656.4(BAP1):c.660-9_660-4del
|
rs2153227505
|
|
|
NM_004656.4(BAP1):c.675C>T (p.Asp225=)
|
rs961974192
|
|
|
NM_004656.4(BAP1):c.79dup (p.Val27fs)
|
rs397509413
|
|
|
NM_004656.4(BAP1):c.830_831del (p.Gln277fs)
|
rs1327490224
|
|
|
NM_004656.4(BAP1):c.86T>G (p.Val29Gly)
|
rs1553646295
|
|
|
NM_004714.3(DYRK1B):c.1641A>C (p.Arg547=)
|
rs1555782801
|
|
|
NM_004714.3(DYRK1B):c.1663C>G (p.Pro555Ala)
|
rs1555782784
|
|
|
NM_004714.3(DYRK1B):c.60G>T (p.Thr20=)
|
rs142943294
|
|
|
NM_004714.3(DYRK1B):c.756C>T (p.Arg252=)
|
rs1251016734
|
|
|
NM_004722.4(AP4M1):c.1065G>A (p.Glu355=)
|
rs1554381297
|
|
|
NM_004722.4(AP4M1):c.279C>T (p.Tyr93=)
|
rs797045248
|
|
|
NM_004722.4(AP4M1):c.32del (p.Lys11fs)
|
rs797045249
|
|
|
NM_004722.4(AP4M1):c.862G>A (p.Asp288Asn)
|
rs767611212
|
|
|
NM_004733.4(SLC33A1):c.322G>A (p.Asp108Asn)
|
rs2108018034
|
|
|
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup)
|
rs551375300
|
|
|
NM_004782.4(SNAP29):c.149T>C (p.Leu50Pro)
|
rs747058160
|
|
|
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)
|
rs751575036
|
|
|
NM_004813.4(PEX16):c.461-2_461del
|
rs2134694006
|
|
|
NM_004826.4(ECEL1):c.110_155del (p.Phe37fs)
|
rs1341894581
|
|
|
NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys)
|
rs1553567411
|
|
|
NM_004826.4(ECEL1):c.1797-8G>A
|
rs1553566820
|
|
|
NM_004826.4(ECEL1):c.509del (p.Gly170fs)
|
rs1553567937
|
|
|
NM_004830.4(MED23):c.13C>T (p.Leu5=)
|
rs757159794
|
|
|
NM_004830.4(MED23):c.3077T>C (p.Leu1026Pro)
|
rs1554253506
|
|
|
NM_004830.4(MED23):c.3807+5A>G
|
rs797045700
|
|
|
NM_004830.4(MED23):c.495+1G>A
|
rs797045701
|
|
|
NM_004830.4(MED23):c.952G>A (p.Glu318Lys)
|
rs797045702
|
|
|
NM_004836.6(EIF2AK3):c.-612_-597dup
|
rs11272621
|
|
|
NM_004836.7(EIF2AK3):c.1564_1565del (p.Trp522fs)
|
rs797045558
|
|
|
NM_004836.7(EIF2AK3):c.2045G>A (p.Trp682Ter)
|
rs2104412272
|
|
|
NM_004836.7(EIF2AK3):c.2483A>G (p.His828Arg)
|
rs369837691
|
|
|
NM_004836.7(EIF2AK3):c.265G>A (p.Gly89Ser)
|
rs767999139
|
|
|
NM_004836.7(EIF2AK3):c.2758C>T (p.Gln920Ter)
|
rs1553407942
|
|
|
NM_004836.7(EIF2AK3):c.3114A>T (p.Lys1038Asn)
|
rs750529763
|
|
|
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del)
|
rs1805190
|
|
|
NM_004840.3(ARHGEF6):c.1026A>G (p.Val342=)
|
rs1556253083
|
|
|
NM_004840.3(ARHGEF6):c.1081G>T (p.Ala361Ser)
|
rs779277722
|
|
|
NM_004840.3(ARHGEF6):c.1190C>G (p.Thr397Ser)
|
rs532348958
|
|
|
NM_004840.3(ARHGEF6):c.459+4A>T
|
rs1028728856
|
|
|
NM_004924.6(ACTN4):c.1143G>T (p.Ser381=)
|
|
|
|
NM_004933.3(CDH15):c.1162G>A (p.Ala388Thr)
|
rs747009056
|
|
|
NM_004933.3(CDH15):c.1387C>T (p.Arg463Cys)
|
rs779657883
|
|
|
NM_004933.3(CDH15):c.1531C>G (p.Pro511Ala)
|
rs1419856684
|
|
|
NM_004933.3(CDH15):c.1796G>T (p.Gly599Val)
|
rs779470688
|
|
|
NM_004933.3(CDH15):c.1912G>C (p.Gly638Arg)
|
rs138712131
|
|
|
NM_004933.3(CDH15):c.1920G>A (p.Leu640=)
|
rs1915708263
|
|
|
NM_004933.3(CDH15):c.2042C>T (p.Pro681Leu)
|
rs910602813
|
|
|
NM_004933.3(CDH15):c.2051C>T (p.Pro684Leu)
|
rs1457517527
|
|
|
NM_004933.3(CDH15):c.2226C>A (p.Asp742Glu)
|
rs370556933
|
|
|
NM_004933.3(CDH15):c.2353G>A (p.Gly785Arg)
|
rs149307887
|
|
|
NM_004933.3(CDH15):c.2364C>A (p.Tyr788Ter)
|
rs2270416
|
|
|
NM_004933.3(CDH15):c.633C>A (p.Ile211=)
|
rs531999031
|
|
|
NM_004933.3(CDH15):c.938C>G (p.Thr313Arg)
|
rs758656978
|
|
|
NM_004933.3(CDH15):c.970A>G (p.Ile324Val)
|
rs1348481251
|
|
|
NM_004935.4(CDK5):c.720G>T (p.Pro240=)
|
rs62490285
|
|
|
NM_004959.5(NR5A1):c.102+1G>C
|
rs2131289951
|
|
|
NM_004959.5(NR5A1):c.1282del (p.Ala428fs)
|
rs2131269203
|
|
|
NM_004959.5(NR5A1):c.205_206delinsTT (p.Arg69Phe)
|
rs1554721866
|
|
|
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)
|
rs886039769
|
|
|
NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs)
|
rs1554721883
|
|
|
NM_004959.5(NR5A1):c.614dup (p.Gln206fs)
|
|
|
|
NM_004959.5(NR5A1):c.765C>T (p.Arg255=)
|
rs765394585
|
|
|
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys)
|
rs1057517779
|
|
|
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu)
|
rs1554721235
|
|
|
NM_004959.5(NR5A1):c.958G>T (p.Glu320Ter)
|
rs2131279881
|
|
|
NM_004972.4(JAK2):c.1153A>G (p.Lys385Glu)
|
|
|
|
NM_004972.4(JAK2):c.1266G>C (p.Leu422=)
|
rs771401095
|
|
|
NM_004972.4(JAK2):c.176C>G (p.Ser59Cys)
|
rs754086152
|
|
|
NM_004972.4(JAK2):c.3162T>A (p.Ser1054Arg)
|
rs1823738719
|
|
|
NM_004972.4(JAK2):c.931G>A (p.Glu311Lys)
|
rs1245776198
|
|
|
NM_004972.4(JAK2):c.995A>G (p.Asn332Ser)
|
rs1817717168
|
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
|
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)
|
rs104894699
|
|
|
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)
|
rs797044872
|
|
|
NM_004977.3(KCNC3):c.1954G>A (p.Glu652Lys)
|
rs1555781339
|
|
|
NM_004977.3(KCNC3):c.2171-2A>C
|
rs797045633
|
|
|
NM_004991.4(MECOM):c.1133-1_1133delinsAA
|
rs2149083036
|
|
|
NM_004991.4(MECOM):c.1244G>A (p.Ser415Asn)
|
rs1446914453
|
|
|
NM_004991.4(MECOM):c.1322A>G (p.Gln441Arg)
|
|
|
|
NM_004991.4(MECOM):c.1392G>A (p.Pro464=)
|
|
|
|
NM_004991.4(MECOM):c.1503C>G (p.His501Gln)
|
rs145851161
|
|
|
NM_004991.4(MECOM):c.1587G>A (p.Met529Ile)
|
rs2149079372
|
|
|
NM_004991.4(MECOM):c.1801C>A (p.Leu601Met)
|
rs1479986945
|
|
|
NM_004991.4(MECOM):c.1950G>A (p.Glu650=)
|
|
|
|
NM_004991.4(MECOM):c.2205_2206delinsAA (p.Gly736Ser)
|
rs2149074500
|
|
|
NM_004991.4(MECOM):c.2489+6C>T
|
|
|
|
NM_004991.4(MECOM):c.2701_2703delinsTTG (p.Asn901Leu)
|
rs2148956680
|
|
|
NM_004991.4(MECOM):c.2772-7A>G
|
|
|
|
NM_004991.4(MECOM):c.3236AAG[1] (p.Glu1080del)
|
rs2148850095
|
|
|
NM_004991.4(MECOM):c.3680C>A (p.Ala1227Glu)
|
rs201825977
|
|
|
NM_004991.4(MECOM):c.884A>G (p.Gln295Arg)
|
|
|
|
NM_004992.3(MECP2):c.1276_*113del299ins3
|
|
|
|
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
|
|
|
|
NM_004992.3(MECP2):c.943_1140del198ins6
|
|
|
|
NM_004993.5(ATXN3):c.916delGins20 (p.?)
|
|
|
|
NM_004993.6(ATXN3):c.882_884del (p.Lys295del)
|
rs141993435
|
|
|
NM_004998.4(MYO1E):c.1257G>C (p.Leu419=)
|
|
|
|
NM_004998.4(MYO1E):c.2345G>A (p.Arg782Gln)
|
|
|
|
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)
|
rs1127566
|
|
|
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)
|
rs1597686012
|
|
|
NM_005026.5(PIK3CD):c.1020+10C>T
|
rs1570366812
|
|
|
NM_005026.5(PIK3CD):c.2911G>A (p.Gly971Arg)
|
rs750392184
|
|
|
NM_005026.5(PIK3CD):c.292G>A (p.Val98Ile)
|
|
|
|
NM_005026.5(PIK3CD):c.322C>T (p.Arg108Cys)
|
rs1205317546
|
|
|
NM_005026.5(PIK3CD):c.454G>A (p.Ala152Thr)
|
|
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
|
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.-24GGC[11] (p.Met1_Glu2insGlyGlyGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.-24GGC[15] (p.Met1_Glu2insGlyGlyGlyGlyGlyGlyGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.1144-10del
|
rs2115696489
|
|
|
NM_005045.4(RELN):c.2324G>T (p.Arg775Ile)
|
rs2117349033
|
|
|
NM_005045.4(RELN):c.2604C>G (p.Ser868Arg)
|
rs1426251919
|
|
|
NM_005045.4(RELN):c.3173A>C (p.Glu1058Ala)
|
rs2117271793
|
|
|
NM_005045.4(RELN):c.329dup (p.Gly111fs)
|
rs797045912
|
|
|
NM_005045.4(RELN):c.32T>G (p.Phe11Cys)
|
rs764120718
|
|
|
NM_005045.4(RELN):c.3495G>A (p.Trp1165Ter)
|
rs2117254954
|
|
|
NM_005045.4(RELN):c.4640G>T (p.Arg1547Leu)
|
rs774277969
|
|
|
NM_005045.4(RELN):c.4746T>C (p.His1582=)
|
rs797045913
|
|
|
NM_005045.4(RELN):c.4755T>C (p.His1585=)
|
rs797045914
|
|
|
NM_005045.4(RELN):c.5188G>C (p.Val1730Leu)
|
rs1554379957
|
|
|
NM_005045.4(RELN):c.5193C>A (p.Tyr1731Ter)
|
rs587780435
|
|
|
NM_005045.4(RELN):c.5195_5208dup (p.Ile1737fs)
|
rs587780436
|
|
|
NM_005045.4(RELN):c.541G>C (p.Gly181Arg)
|
rs1342417375
|
|
|
NM_005045.4(RELN):c.5587C>T (p.Gln1863Ter)
|
rs797045915
|
|
|
NM_005045.4(RELN):c.6811A>G (p.Asn2271Asp)
|
rs2117129487
|
|
|
NM_005045.4(RELN):c.7490+1G>A
|
rs587780437
|
|
|
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys)
|
rs587780438
|
|
|
NM_005045.4(RELN):c.8121G>A (p.Val2707=)
|
rs1345247825
|
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
|
NM_005045.4(RELN):c.9406C>G (p.Leu3136Val)
|
rs767535167
|
|
|
NM_005045.4(RELN):c.9531C>T (p.Ala3177=)
|
rs750621529
|
|
|
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser)
|
rs73714410
|
|
|
NM_005050.4(ABCD4):c.1125del (p.Trp377fs)
|
rs1440898011
|
|
|
NM_005051.3(QARS1):c.117+1G>T
|
|
|
|
NM_005055.5(RAPSN):c.635T>G (p.Met212Arg)
|
rs1555142809
|
|
|
NM_005068.3(SIM1):c.1278T>G (p.Pro426=)
|
rs1770703637
|
|
|
NM_005068.3(SIM1):c.1641C>T (p.Asp547=)
|
rs1582598833
|
|
|
NM_005105.5(RBM8A):c.128-2A>G
|
rs1313663918
|
|
|
NM_005105.5(RBM8A):c.403A>C (p.Asn135His)
|
rs1261034450
|
|
|
NM_005120.3(MED12):c.1485+6C>T
|
rs565198403
|
|
|
NM_005120.3(MED12):c.204+12_204+13del
|
rs200301833
|
|
|
NM_005120.3(MED12):c.2274T>C (p.Phe758=)
|
rs779918145
|
|
|
NM_005120.3(MED12):c.2294A>T (p.Asp765Val)
|
rs1243443016
|
|
|
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu)
|
rs797045698
|
|
|
NM_005120.3(MED12):c.3868-7T>A
|
rs587780392
|
|
|
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg)
|
rs797045699
|
|
|
NM_005120.3(MED12):c.5266C>T (p.Leu1756=)
|
rs1556338815
|
|
|
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)
|
rs757160341
|
|
|
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs761195801
|
|
|
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup)
|
rs766775649
|
|
|
NM_005120.3(MED12):c.6339A>G (p.Gln2113=)
|
rs757508922
|
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
|
NM_005120.3(MED12):c.708C>G (p.Thr236=)
|
rs34668206
|
|
|
NM_005159.5(ACTC1):c.344A>G (p.Lys115Arg)
|
rs2140431879
|
|
|
NM_005188.4(CBL):c.107ACC[4] (p.His40_His42del)
|
rs373212940
|
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
|
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)
|
rs373212940
|
|
|
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)
|
rs140627020
|
|
|
NM_005188.4(CBL):c.1365T>C (p.Tyr455=)
|
rs749044865
|
|
|
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)
|
rs397507494
|
|
|
NM_005188.4(CBL):c.1384C>T (p.Arg462Ter)
|
rs886041425
|
|
|
NM_005188.4(CBL):c.2047G>A (p.Val683Met)
|
rs2135319783
|
|
|
NM_005188.4(CBL):c.231A>G (p.Leu77=)
|
rs2135266156
|
|
|
NM_005188.4(CBL):c.2679G>A (p.Arg893=)
|
rs2135322347
|
|
|
NM_005188.4(CBL):c.401A>G (p.Lys134Arg)
|
rs2135266374
|
|
|
NM_005188.4(CBL):c.591-8C>T
|
rs749291716
|
|
|
NM_005188.4(CBL):c.996C>T (p.Phe332=)
|
rs2135301604
|
|
|
NM_005214.5(CTLA4):c.228G>C (p.Gln76His)
|
|
|
|
NM_005219.5(DIAPH1):c.3048G>A (p.Lys1016=)
|
rs371366611
|
|
|
NM_005228.5(EGFR):c.1933T>C (p.Ser645Pro)
|
rs1584222146
|
|
|
NM_005228.5(EGFR):c.2575G>T (p.Ala859Ser)
|
|
|
|
NM_005236.3(ERCC4):c.*2577del
|
rs61422086
|
|
|
NM_005236.3(ERCC4):c.1192A>G (p.Ser398Gly)
|
rs2141605947
|
|
|
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)
|
rs779091652
|
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
|
NM_005236.3(ERCC4):c.1990G>A (p.Asp664Asn)
|
rs1428509012
|
|
|
NM_005236.3(ERCC4):c.2286C>G (p.Asp762Glu)
|
rs1403769639
|
|
|
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)
|
rs55761944
|
|
|
NM_005236.3(ERCC4):c.450_451delinsTT (p.Leu151Phe)
|
rs2141944730
|
|
|
NM_005236.3(ERCC4):c.576G>C (p.Leu192=)
|
rs2141944936
|
|
|
NM_005236.3(ERCC4):c.580_584+1del
|
rs776329282
|
|
|
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=)
|
rs570981209
|
|
|
NM_005249.5(FOXG1):c.135_136dup (p.Gln46fs)
|
rs587783629
|
|
|
NM_005249.5(FOXG1):c.141CCA[6] (p.His57del)
|
rs587783630
|
|
|
NM_005249.5(FOXG1):c.170_179del (p.His57fs)
|
rs587783631
|
|
|
NM_005249.5(FOXG1):c.183_206del (p.Ala62_Pro69del)
|
rs587783632
|
|
|
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del)
|
rs587783634
|
|
|
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)
|
rs786200975
|
|
|
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)
|
rs398124202
|
|
|
NM_005249.5(FOXG1):c.256del (p.Gln86fs)
|
rs786205001
|
|
|
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs)
|
rs587783635
|
|
|
NM_005249.5(FOXG1):c.298del (p.Gln100fs)
|
rs587783636
|
|
|
NM_005249.5(FOXG1):c.430G>A (p.Glu144Lys)
|
rs797045583
|
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
|
NM_005249.5(FOXG1):c.498G>C (p.Gly166=)
|
rs764054659
|
|
|
NM_005249.5(FOXG1):c.505_506delinsC (p.Gly169fs)
|
rs786205003
|
|
|
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs)
|
rs786205003
|
|
|
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly)
|
rs587783638
|
|
|
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile)
|
rs1881802605
|
|
|
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser)
|
rs786204998
|
|
|
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)
|
rs727503935
|
|
|
NM_005249.5(FOXG1):c.672C>G (p.Gly224=)
|
rs587783639
|
|
|
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu)
|
rs1064797186
|
|
|
NM_005249.5(FOXG1):c.699G>T (p.Leu233=)
|
rs2138661396
|
|
|
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr)
|
rs1555321337
|
|
|
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val)
|
rs587783640
|
|
|
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp)
|
rs587783641
|
|
|
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter)
|
rs587783642
|
|
|
NM_005249.5(FOXG1):c.765G>T (p.Trp255Cys)
|
rs121913678
|
|
|
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser)
|
rs587783643
|
|
|
NM_005249.5(FOXG1):c.977G>A (p.Ser326Asn)
|
rs748001255
|
|
|
NM_005257.6(GATA6):c.1087C>T (p.Gln363Ter)
|
rs797045593
|
|
|
NM_005257.6(GATA6):c.1367G>A (p.Arg456His)
|
rs387906819
|
|
|
NM_005257.6(GATA6):c.25T>A (p.Cys9Ser)
|
rs1251160301
|
|
|
NM_005257.6(GATA6):c.750C>T (p.Gly250=)
|
rs1024528816
|
|
|
NM_005257.6(GATA6):c.969CCA[11] (p.His333dup)
|
rs562588574
|
|
|
NM_005257.6(GATA6):c.969CCA[9] (p.His333del)
|
rs562588574
|
|
|
NM_005263.5(GFI1):c.281C>T (p.Ser94Leu)
|
rs992126786
|
|
|
NM_005263.5(GFI1):c.299-12G>C
|
rs962841876
|
|
|
NM_005263.5(GFI1):c.559G>T (p.Ala187Ser)
|
|
|
|
NM_005263.5(GFI1):c.597C>G (p.Leu199=)
|
rs1201094829
|
|
|
NM_005263.5(GFI1):c.74A>T (p.Tyr25Phe)
|
rs375422035
|
|
|
NM_005263.5(GFI1):c.925-40CT[24]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[26]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-7_925-6insTCTCTCTCTA
|
rs1553162639
|
|
|
NM_005271.5(GLUD1):c.1403-11dup
|
rs550609501
|
|
|
NM_005271.5(GLUD1):c.1403-40del
|
rs35186250
|
|
|
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)
|
rs121909731
|
|
|
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp)
|
rs121909734
|
|
|
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)
|
rs797045597
|
|
|
NM_005271.5(GLUD1):c.445+7G>A
|
rs797045598
|
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
|
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr)
|
rs121909736
|
|
|
NM_005271.5(GLUD1):c.954A>T (p.Arg318Ser)
|
rs2133796065
|
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
|
NM_005276.4(GPD1):c.808A>G (p.Asn270Asp)
|
rs2137924363
|
|
|
NM_005327.7(HADH):c.419+39del
|
rs550348868
|
|
|
NM_005333.5(HCCS):c.94A>T (p.Met32Leu)
|
rs761659830
|
|
|
NM_005334.3(HCFC1):c.1251C>T (p.Val417=)
|
rs1557116313
|
|
|
NM_005334.3(HCFC1):c.1461C>T (p.Leu487=)
|
rs1557116102
|
|
|
NM_005334.3(HCFC1):c.237C>A (p.Pro79=)
|
rs782481466
|
|
|
NM_005334.3(HCFC1):c.3337G>C (p.Glu1113Gln)
|
rs782066012
|
|
|
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=)
|
rs1053320929
|
|
|
NM_005334.3(HCFC1):c.4594G>A (p.Ala1532Thr)
|
rs782665288
|
|
|
NM_005334.3(HCFC1):c.4722A>C (p.Pro1574=)
|
rs1557112957
|
|
|
NM_005334.3(HCFC1):c.5528G>C (p.Gly1843Ala)
|
rs797045609
|
|
|
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)
|
rs587777699
|
|
|
NM_005357.4(LIPE):c.581C>G (p.Ala194Gly)
|
rs34996020
|
|
|
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)
|
rs786204166
|
|
|
NM_005359.6(SMAD4):c.388C>T (p.Pro130Ser)
|
rs1555685186
|
|
|
NM_005359.6(SMAD4):c.849C>A (p.His283Gln)
|
rs2144428968
|
|
|
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)
|
rs546510242
|
|
|
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg)
|
rs1553128241
|
|
|
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
|
rs1292577132
|
|
|
NM_005373.3(MPL):c.1359G>A (p.Pro453=)
|
rs1262936822
|
|
|
NM_005373.3(MPL):c.1454C>T (p.Thr485Ile)
|
rs974626632
|
|
|
NM_005373.3(MPL):c.1513A>C (p.Ser505Arg)
|
rs1057519752
|
|
|
NM_005373.3(MPL):c.1633G>A (p.Asp545Asn)
|
rs937591117
|
|
|
NM_005373.3(MPL):c.1799G>A (p.Gly600Glu)
|
|
|
|
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)
|
rs1373623383
|
|
|
NM_005373.3(MPL):c.224G>A (p.Arg75His)
|
|
|
|
NM_005373.3(MPL):c.242C>T (p.Ser81Phe)
|
rs2153916442
|
|
|
NM_005373.3(MPL):c.313_316del (p.Phe105fs)
|
rs2153916498
|
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
|
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
|
rs1443655691
|
|
|
NM_005373.3(MPL):c.399G>A (p.Pro133=)
|
rs768283382
|
|
|
NM_005373.3(MPL):c.787A>T (p.Ile263Phe)
|
rs1165926000
|
|
|
NM_005373.3(MPL):c.972del (p.Arg325fs)
|
rs770457041
|
|
|
NM_005431.2(XRCC2):c.155C>A (p.Thr52Lys)
|
rs530663304
|
|
|
NM_005445.4(SMC3):c.1433_1435dup (p.Ala478dup)
|
rs797045995
|
|
|
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp)
|
rs587784425
|
|
|
NM_005445.4(SMC3):c.2005T>G (p.Tyr669Asp)
|
rs776056911
|
|
|
NM_005445.4(SMC3):c.2264C>T (p.Pro755Leu)
|
rs76568464
|
|
|
NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln)
|
rs587784427
|
|
|
NM_005445.4(SMC3):c.2427+13C>T
|
rs190798929
|
|
|
NM_005445.4(SMC3):c.257A>C (p.Asp86Ala)
|
rs1554882236
|
|
|
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro)
|
rs797045996
|
|
|
NM_005445.4(SMC3):c.2710T>C (p.Trp904Arg)
|
rs112281749
|
|
|
NM_005445.4(SMC3):c.274G>T (p.Asp92Tyr)
|
rs1554882266
|
|
|
NM_005445.4(SMC3):c.2964T>C (p.Asp988=)
|
rs111611128
|
|
|
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val)
|
rs901512521
|
|
|
NM_005445.4(SMC3):c.377A>G (p.Glu126Gly)
|
rs113411202
|
|
|
NM_005445.4(SMC3):c.548-5_548-4dup
|
rs199906378
|
|
|
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro)
|
rs587784429
|
|
|
NM_005445.4(SMC3):c.724-6dup
|
rs11380915
|
|
|
NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup)
|
rs797045997
|
|
|
NM_005475.3(SH2B3):c.1236+4TGGGG[6]
|
rs111340708
|
|
|
NM_005475.3(SH2B3):c.1383C>T (p.Tyr461=)
|
|
|
|
NM_005475.3(SH2B3):c.1454_1477del (p.Asp485_Trp492del)
|
|
|
|
NM_005475.3(SH2B3):c.733-10G>C
|
|
|
|
NM_005475.3(SH2B3):c.781C>T (p.Arg261Trp)
|
|
|
|
NM_005491.5(MAMLD1):c.1062ACC[3] (p.Pro359del)
|
rs782788215
|
|
|
NM_005515.4(MNX1):c.375CGC[10] (p.Ala134dup)
|
rs548755417
|
|
|
NM_005515.4(MNX1):c.375CGC[11] (p.Ala133_Ala134dup)
|
rs548755417
|
|
|
NM_005515.4(MNX1):c.53dup (p.Arg19fs)
|
rs1554594329
|
|
|
NM_005515.4(MNX1):c.752del (p.Gln251fs)
|
rs2134840169
|
|
|
NM_005515.4(MNX1):c.780C>A (p.Phe260Leu)
|
rs2134840114
|
|
|
NM_005515.4(MNX1):c.832C>T (p.Leu278Phe)
|
rs370066878
|
|
|
NM_005515.4(MNX1):c.874C>T (p.Arg292Trp)
|
rs2134838763
|
|
|
NM_005515.4(MNX1):c.885A>C (p.Lys295Asn)
|
rs1064794653
|
|
|
NM_005522.5(HOXA1):c.192CCA[7] (p.His72del)
|
rs747464910
|
|
|
NM_005523.6(HOXA11):c.512C>A (p.Ala171Glu)
|
|
|
|
NM_005546.4(ITK):c.1558T>C (p.Phe520Leu)
|
|
|
|
NM_005546.4(ITK):c.1730T>G (p.Leu577Trp)
|
|
|
|
NM_005559.4(LAMA1):c.1371C>A (p.Asn457Lys)
|
rs1252932563
|
|
|
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu)
|
rs578430
|
|
|
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)
|
rs375737188
|
|
|
NM_005629.4(SLC6A8):c.1393-7C>T
|
rs373525249
|
|
|
NM_005629.4(SLC6A8):c.1425C>T (p.Tyr475=)
|
rs2091475721
|
|
|
NM_005629.4(SLC6A8):c.1496-4G>T
|
rs782589547
|
|
|
NM_005629.4(SLC6A8):c.1583del (p.Pro528fs)
|
rs1557045581
|
|
|
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=)
|
rs782373793
|
|
|
NM_005629.4(SLC6A8):c.974C>G (p.Thr325Arg)
|
rs797045972
|
|
|
NM_005633.4(SOS1):c.*1606del
|
rs34248802
|
|
|
NM_005633.4(SOS1):c.*2244_*2245dup
|
rs3832123
|
|
|
NM_005634.3(SOX3):c.717_737del (p.Ala242_Ala248del)
|
rs748467720
|
|
|
NM_005676.5(RBM10):c.1249-1G>A
|
rs1556778986
|
|
|
NM_005732.4(RAD50):c.1677C>G (p.His559Gln)
|
rs142619269
|
|
|
NM_005732.4(RAD50):c.2165dup (p.Glu723fs)
|
rs397507178
|
|
|
NM_005739.4(RASGRP1):c.1629C>A (p.Asn543Lys)
|
rs2141089659
|
|
|
NM_005739.4(RASGRP1):c.795C>T (p.Arg265=)
|
|
|
|
NM_005739.4(RASGRP1):c.920C>T (p.Ser307Leu)
|
rs1407319895
|
|
|
NM_005850.5(SF3B4):c.1058C>A (p.Pro353His)
|
rs782461594
|
|
|
NM_005850.5(SF3B4):c.1088-3C>G
|
rs797045953
|
|
|
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs)
|
rs797045954
|
|
|
NM_005850.5(SF3B4):c.132del (p.Met44fs)
|
rs2101647663
|
|
|
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter)
|
rs797045955
|
|
|
NM_005850.5(SF3B4):c.45_46del (p.Tyr16fs)
|
rs797045956
|
|
|
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs)
|
rs797045957
|
|
|
NM_005850.5(SF3B4):c.732A>C (p.Pro244=)
|
rs797045958
|
|
|
NM_005850.5(SF3B4):c.744A>C (p.Pro248=)
|
rs200149254
|
|
|
NM_005857.5(ZMPSTE24):c.8T>C (p.Met3Thr)
|
rs754971777
|
|
|
NM_005859.5(PURA):c.123_128dup (p.Ser43_Gly44dup)
|
rs1039658835
|
|
|
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup)
|
rs754074166
|
|
|
NM_005859.5(PURA):c.306C>T (p.Leu102=)
|
rs762714935
|
|
|
NM_005859.5(PURA):c.504_505delinsTT (p.Arg169Cys)
|
rs1554129098
|
|
|
NM_005861.4(STUB1):c.195C>G (p.Asn65Lys)
|
rs2039644942
|
|
|
NM_005861.4(STUB1):c.646dup (p.Ser216fs)
|
rs1555475283
|
|
|
NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del)
|
rs1555475375
|
|
|
NM_005861.4(STUB1):c.721C>G (p.Arg241Gly)
|
rs760424025
|
|
|
NM_005861.4(STUB1):c.786G>C (p.Gln262His)
|
|
|
|
NM_005861.4(STUB1):c.832del (p.Glu278fs)
|
rs1555475529
|
|
|
NM_005881.4(BCKDK):c.1233G>C (p.Arg411=)
|
rs771867141
|
|
|
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter)
|
rs369521689
|
|
|
NM_005886.3(KATNB1):c.699C>T (p.Pro233=)
|
rs34508238
|
|
|
NM_005886.3(KATNB1):c.930G>A (p.Thr310=)
|
rs147460464
|
|
|
NM_005886.3(KATNB1):c.930G>C (p.Thr310=)
|
rs147460464
|
|
|
NM_005912.3(MC4R):c.206T>G (p.Ile69Arg)
|
rs751160202
|
|
|
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)
|
rs1555691402
|
|
|
NM_005921.2(MAP3K1):c.1846G>C (p.Gly616Arg)
|
rs143853590
|
|
|
NM_005921.2(MAP3K1):c.2156T>G (p.Val719Gly)
|
rs771744162
|
|
|
NM_005921.2(MAP3K1):c.233_234delinsCT (p.Leu78Pro)
|
rs1554028405
|
|
|
NM_005921.2(MAP3K1):c.248C>T (p.Ser83Leu)
|
rs1237362975
|
|
|
NM_005921.2(MAP3K1):c.2824ACA[7] (p.Thr949del)
|
rs5868032
|
|
|
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu)
|
rs576080629
|
|
|
NM_005981.5(TSPAN31):c.*1233G>A
|
rs2140380925
|
|
|
NM_005981.5(TSPAN31):c.*2224G>C
|
rs1555201136
|
|
|
NM_005984.5(SLC25A1):c.17C>G (p.Ala6Gly)
|
rs1555923625
|
|
|
NM_005984.5(SLC25A1):c.34G>A (p.Ala12Thr)
|
rs1555923611
|
|
|
NM_005984.5(SLC25A1):c.776C>T (p.Thr259Met)
|
rs782004176
|
|
|
NM_005993.5(TBCD):c.1876G>T (p.Ala626Ser)
|
rs749225304
|
|
|
NM_006005.3(WFS1):c.1142T>C (p.Leu381Pro)
|
rs797046111
|
|
|
NM_006005.3(WFS1):c.1237TTC[1] (p.Phe414del)
|
rs797046112
|
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
|
NM_006005.3(WFS1):c.1725C>T (p.Ala575=)
|
rs2230719
|
|
|
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter)
|
rs369107336
|
|
|
NM_006005.3(WFS1):c.2370G>A (p.Ser790=)
|
rs150936382
|
|
|
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro)
|
rs1560422132
|
|
|
NM_006005.3(WFS1):c.2632G>A (p.Ala878Thr)
|
rs570527044
|
|
|
NM_006005.3(WFS1):c.409_424dup (p.Val142fs)
|
rs1362648752
|
|
|
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter)
|
rs777580652
|
|
|
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr)
|
rs797046071
|
|
|
NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val)
|
rs587784481
|
|
|
NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala)
|
rs1555162294
|
|
|
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val)
|
rs587784482
|
|
|
NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser)
|
rs587784483
|
|
|
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)
|
rs587784483
|
|
|
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His)
|
rs137853044
|
|
|
NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu)
|
rs137853044
|
|
|
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)
|
rs137853050
|
|
|
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys)
|
rs587784484
|
|
|
NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del)
|
rs1555162244
|
|
|
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala)
|
rs1555162242
|
|
|
NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile)
|
rs587784485
|
|
|
NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg)
|
rs587784486
|
|
|
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly)
|
rs797046072
|
|
|
NM_006009.4(TUBA1A):c.273A>G (p.Gln91=)
|
rs765483435
|
|
|
NM_006009.4(TUBA1A):c.276T>C (p.Leu92=)
|
rs1065671
|
|
|
NM_006009.4(TUBA1A):c.358G>T (p.Asp120Tyr)
|
rs2121246309
|
|
|
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His)
|
rs1555162456
|
|
|
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp)
|
rs587784488
|
|
|
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)
|
rs587784489
|
|
|
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser)
|
rs1064795213
|
|
|
NM_006009.4(TUBA1A):c.562_564dup (p.Ile188dup)
|
rs587784490
|
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
|
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg)
|
rs587784492
|
|
|
NM_006009.4(TUBA1A):c.758C>G (p.Thr253Arg)
|
rs587784493
|
|
|
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)
|
rs137853043
|
|
|
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser)
|
rs587784494
|
|
|
NM_006009.4(TUBA1A):c.956A>G (p.Tyr319Cys)
|
rs2121242769
|
|
|
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu)
|
rs797046073
|
|
|
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser)
|
rs587784495
|
|
|
NM_006009.4(TUBA1A):c.991G>A (p.Ala331Thr)
|
rs587784496
|
|
|
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr)
|
rs587784497
|
|
|
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del)
|
rs751352361
|
|
|
NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup)
|
rs587779737
|
|
|
NM_006015.6(ARID1A):c.1351-10T>C
|
rs1169817343
|
|
|
NM_006015.6(ARID1A):c.1397del (p.Gly466fs)
|
|
|
|
NM_006015.6(ARID1A):c.1440G>A (p.Gln480=)
|
rs746775479
|
|
|
NM_006015.6(ARID1A):c.239A>G (p.Asn80Ser)
|
rs1553145891
|
|
|
NM_006015.6(ARID1A):c.2449G>T (p.Ala817Ser)
|
rs1553152137
|
|
|
NM_006015.6(ARID1A):c.249CGG[6] (p.Gly86_Gly87dup)
|
rs1015322780
|
|
|
NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup)
|
rs777773061
|
|
|
NM_006015.6(ARID1A):c.264C>T (p.Ala88=)
|
rs765913797
|
|
|
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs)
|
rs797045262
|
|
|
NM_006015.6(ARID1A):c.3234C>T (p.Thr1078=)
|
|
|
|
NM_006015.6(ARID1A):c.326C>T (p.Pro109Leu)
|
rs1167372383
|
|
|
NM_006015.6(ARID1A):c.3448A>C (p.Thr1150Pro)
|
|
|
|
NM_006015.6(ARID1A):c.394del (p.Val132fs)
|
rs797045263
|
|
|
NM_006015.6(ARID1A):c.3975C>G (p.Pro1325=)
|
rs148038965
|
|
|
NM_006015.6(ARID1A):c.3978GCA[10] (p.Gln1333_Gln1334dup)
|
rs374564889
|
|
|
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup)
|
rs374564889
|
|
|
NM_006015.6(ARID1A):c.4123G>A (p.Gly1375Ser)
|
rs2124117067
|
|
|
NM_006015.6(ARID1A):c.4472T>C (p.Val1491Ala)
|
|
|
|
NM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup)
|
rs759913677
|
|
|
NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup)
|
rs748085214
|
|
|
NM_006015.6(ARID1A):c.4986A>G (p.Lys1662=)
|
rs1553153328
|
|
|
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro)
|
rs797045264
|
|
|
NM_006015.6(ARID1A):c.513ACA[1] (p.Gln172del)
|
rs1557570075
|
|
|
NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter)
|
rs1485978447
|
|
|
NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del)
|
rs753766136
|
|
|
NM_006015.6(ARID1A):c.5303T>C (p.Leu1768Pro)
|
rs1302313826
|
|
|
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)
|
rs41303631
|
|
|
NM_006015.6(ARID1A):c.5719A>G (p.Ile1907Val)
|
rs139230162
|
|
|
NM_006015.6(ARID1A):c.5745G>T (p.Leu1915Phe)
|
rs767902770
|
|
|
NM_006015.6(ARID1A):c.587C>T (p.Ala196Val)
|
rs1352086990
|
|
|
NM_006015.6(ARID1A):c.6169C>T (p.Arg2057Trp)
|
|
|
|
NM_006015.6(ARID1A):c.6518A>G (p.Asn2173Ser)
|
rs1553153783
|
|
|
NM_006015.6(ARID1A):c.6544G>C (p.Ala2182Pro)
|
rs1553153787
|
|
|
NM_006015.6(ARID1A):c.666C>G (p.Tyr222Ter)
|
rs757919500
|
|
|
NM_006015.6(ARID1A):c.717G>T (p.Pro239=)
|
rs1553146083
|
|
|
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)
|
rs749970078
|
|
|
NM_006015.6(ARID1A):c.750G>C (p.Lys250Asn)
|
rs1553146100
|
|
|
NM_006015.6(ARID1A):c.843G>A (p.Ala281=)
|
rs752424350
|
|
|
NM_006015.6(ARID1A):c.921_940del (p.Tyr308fs)
|
rs1553146165
|
|
|
NM_006031.6(PCNT):c.1208-8C>G
|
rs2146597883
|
|
|
NM_006031.6(PCNT):c.1278G>A (p.Glu426=)
|
rs773448951
|
|
|
NM_006031.6(PCNT):c.1300T>C (p.Leu434=)
|
rs1384003964
|
|
|
NM_006031.6(PCNT):c.1380G>A (p.Lys460=)
|
rs1555953192
|
|
|
NM_006031.6(PCNT):c.1489C>A (p.Arg497Ser)
|
rs371251124
|
|
|
NM_006031.6(PCNT):c.1542C>A (p.Ser514=)
|
rs2249057
|
|
|
NM_006031.6(PCNT):c.1680-2A>G
|
rs1555954786
|
|
|
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs)
|
rs797045875
|
|
|
NM_006031.6(PCNT):c.1732G>A (p.Val578Ile)
|
rs370083877
|
|
|
NM_006031.6(PCNT):c.1732G>T (p.Val578Phe)
|
rs370083877
|
|
|
NM_006031.6(PCNT):c.175G>A (p.Glu59Lys)
|
rs797045876
|
|
|
NM_006031.6(PCNT):c.1786G>A (p.Glu596Lys)
|
rs2084438681
|
|
|
NM_006031.6(PCNT):c.1825G>C (p.Glu609Gln)
|
rs529457692
|
|
|
NM_006031.6(PCNT):c.1975dup (p.Asp659fs)
|
rs1555956600
|
|
|
NM_006031.6(PCNT):c.2019G>A (p.Leu673=)
|
rs868039816
|
|
|
NM_006031.6(PCNT):c.2154+7C>T
|
rs376236418
|
|
|
NM_006031.6(PCNT):c.2155-21_2186del
|
rs1555959737
|
|
|
NM_006031.6(PCNT):c.2470C>T (p.Leu824=)
|
rs61735803
|
|
|
NM_006031.6(PCNT):c.2610-50T>A
|
rs9637173
|
|
|
NM_006031.6(PCNT):c.2628A>G (p.Lys876=)
|
rs758820636
|
|
|
NM_006031.6(PCNT):c.268-5_268-3del
|
rs751683541
|
|
|
NM_006031.6(PCNT):c.2742A>G (p.Ser914=)
|
rs587784301
|
|
|
NM_006031.6(PCNT):c.2834G>A (p.Arg945His)
|
rs183691508
|
|
|
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs)
|
rs587784302
|
|
|
NM_006031.6(PCNT):c.3038C>T (p.Thr1013Ile)
|
rs777758638
|
|
|
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter)
|
rs1555962301
|
|
|
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn)
|
rs138834119
|
|
|
NM_006031.6(PCNT):c.3223C>T (p.Leu1075Phe)
|
rs2085550399
|
|
|
NM_006031.6(PCNT):c.3233C>A (p.Ala1078Glu)
|
rs587784303
|
|
|
NM_006031.6(PCNT):c.3282G>T (p.Gln1094His)
|
rs78484478
|
|
|
NM_006031.6(PCNT):c.3411C>G (p.Gly1137=)
|
rs375993930
|
|
|
NM_006031.6(PCNT):c.3550G>A (p.Gly1184Arg)
|
rs752738005
|
|
|
NM_006031.6(PCNT):c.3564G>T (p.Gly1188=)
|
rs1555973364
|
|
|
NM_006031.6(PCNT):c.3682A>T (p.Met1228Leu)
|
rs886057182
|
|
|
NM_006031.6(PCNT):c.4001A>C (p.Gln1334Pro)
|
rs1318648644
|
|
|
NM_006031.6(PCNT):c.4004-2A>G
|
rs2147305680
|
|
|
NM_006031.6(PCNT):c.428G>A (p.Arg143His)
|
rs58106867
|
|
|
NM_006031.6(PCNT):c.4411G>C (p.Asp1471His)
|
rs2147403017
|
|
|
NM_006031.6(PCNT):c.442G>T (p.Val148Phe)
|
rs201815546
|
|
|
NM_006031.6(PCNT):c.442_519del (p.Val148_Thr173del)
|
rs1555945478
|
|
|
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys)
|
rs111737555
|
|
|
NM_006031.6(PCNT):c.4518C>G (p.Leu1506=)
|
rs954455553
|
|
|
NM_006031.6(PCNT):c.4563+9G>A
|
rs750949882
|
|
|
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)
|
rs35513449
|
|
|
NM_006031.6(PCNT):c.4611A>G (p.Arg1537=)
|
rs587784305
|
|
|
NM_006031.6(PCNT):c.4625A>C (p.Glu1542Ala)
|
rs797045877
|
|
|
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del)
|
rs587784306
|
|
|
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)
|
rs587784306
|
|
|
NM_006031.6(PCNT):c.4687G>C (p.Glu1563Gln)
|
rs746297554
|
|
|
NM_006031.6(PCNT):c.469G>A (p.Gly157Arg)
|
rs1555945637
|
|
|
NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser)
|
rs587784307
|
|
|
NM_006031.6(PCNT):c.4938_4939del (p.Arg1646fs)
|
rs797045879
|
|
|
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter)
|
rs587784308
|
|
|
NM_006031.6(PCNT):c.5073T>C (p.Ala1691=)
|
rs570456724
|
|
|
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile)
|
rs113342730
|
|
|
NM_006031.6(PCNT):c.5253C>G (p.His1751Gln)
|
rs114799541
|
|
|
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser)
|
rs61735809
|
|
|
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter)
|
rs1315359733
|
|
|
NM_006031.6(PCNT):c.55-5C>T
|
rs587784310
|
|
|
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter)
|
rs369195346
|
|
|
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser)
|
rs587784311
|
|
|
NM_006031.6(PCNT):c.5707_5708delinsTT (p.Arg1903Phe)
|
rs2147674617
|
|
|
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs)
|
rs587784312
|
|
|
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro)
|
rs587784313
|
|
|
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu)
|
rs776640595
|
|
|
NM_006031.6(PCNT):c.5982C>G (p.Val1994=)
|
rs552463011
|
|
|
NM_006031.6(PCNT):c.5994+13dup
|
rs772752236
|
|
|
NM_006031.6(PCNT):c.6150+11G>C
|
rs10222116
|
|
|
NM_006031.6(PCNT):c.640-8T>G
|
rs587784314
|
|
|
NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu)
|
rs368565898
|
|
|
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=)
|
rs587784316
|
|
|
NM_006031.6(PCNT):c.6922-4A>T
|
rs587784317
|
|
|
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA
|
rs59957960
|
|
|
NM_006031.6(PCNT):c.7128G>T (p.Gln2376His)
|
rs2147851397
|
|
|
NM_006031.6(PCNT):c.7180-41G>T
|
rs8128866
|
|
|
NM_006031.6(PCNT):c.7354G>T (p.Asp2452Tyr)
|
rs1006896204
|
|
|
NM_006031.6(PCNT):c.7454G>T (p.Ser2485Ile)
|
rs797045880
|
|
|
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys)
|
rs71326327
|
|
|
NM_006031.6(PCNT):c.7796del (p.Leu2599fs)
|
rs587784319
|
|
|
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer)
|
rs2147963975
|
|
|
NM_006031.6(PCNT):c.8128C>T (p.His2710Tyr)
|
rs987345147
|
|
|
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp)
|
rs142608069
|
|
|
NM_006031.6(PCNT):c.8622A>G (p.Glu2874=)
|
rs774517427
|
|
|
NM_006031.6(PCNT):c.8707G>C (p.Ala2903Pro)
|
rs35147998
|
|
|
NM_006031.6(PCNT):c.8731C>T (p.Gln2911Ter)
|
rs898659540
|
|
|
NM_006031.6(PCNT):c.8786A>C (p.His2929Pro)
|
rs1556003819
|
|
|
NM_006031.6(PCNT):c.8812G>A (p.Val2938Met)
|
|
|
|
NM_006031.6(PCNT):c.8820C>A (p.Asp2940Glu)
|
rs797045882
|
|
|
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)
|
rs151325202
|
|
|
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val)
|
rs372356069
|
|
|
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr)
|
rs201877661
|
|
|
NM_006031.6(PCNT):c.8997G>A (p.Arg2999=)
|
rs1288558445
|
|
|
NM_006031.6(PCNT):c.9028A>G (p.Lys3010Glu)
|
rs797045883
|
|
|
NM_006031.6(PCNT):c.9051C>G (p.His3017Gln)
|
rs1556004960
|
|
|
NM_006031.6(PCNT):c.9293G>T (p.Trp3098Leu)
|
rs797045884
|
|
|
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr)
|
rs140196457
|
|
|
NM_006031.6(PCNT):c.9393+8C>T
|
rs750108017
|
|
|
NM_006031.6(PCNT):c.9409C>G (p.Leu3137Val)
|
rs1556007750
|
|
|
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter)
|
rs1474939581
|
|
|
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys)
|
rs587784323
|
|
|
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala)
|
rs144044246
|
|
|
NM_006031.6(PCNT):c.9886T>C (p.Ser3296Pro)
|
rs752708321
|
|
|
NM_006031.6(PCNT):c.9959TAC[1] (p.Leu3321del)
|
rs2148141560
|
|
|
NM_006059.4(LAMC3):c.1865C>G (p.Pro622Arg)
|
rs142041428
|
|
|
NM_006059.4(LAMC3):c.1939G>A (p.Gly647Ser)
|
rs144242690
|
|
|
NM_006059.4(LAMC3):c.2308C>G (p.Arg770Gly)
|
rs3739510
|
|
|
NM_006059.4(LAMC3):c.2836_2853del (p.Ala946_Gln951del)
|
rs2133318070
|
|
|
NM_006059.4(LAMC3):c.3064G>A (p.Glu1022Lys)
|
rs954997195
|
|
|
NM_006059.4(LAMC3):c.3069+8G>T
|
rs563444562
|
|
|
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln)
|
rs146221263
|
|
|
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys)
|
rs140955110
|
|
|
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser)
|
rs147092908
|
|
|
NM_006059.4(LAMC3):c.4271G>A (p.Arg1424His)
|
rs34724991
|
|
|
NM_006059.4(LAMC3):c.521_522delinsAG (p.Pro174Gln)
|
rs386738954
|
|
|
NM_006059.4(LAMC3):c.522C>G (p.Pro174=)
|
rs2275136
|
|
|
NM_006059.4(LAMC3):c.855A>G (p.Ala285=)
|
rs2275132
|
|
|
NM_006060.6(IKZF1):c.1001C>T (p.Pro334Leu)
|
rs2153518005
|
|
|
NM_006060.6(IKZF1):c.1525A>G (p.Ile509Val)
|
rs762184064
|
|
|
NM_006060.6(IKZF1):c.191A>G (p.Asp64Gly)
|
rs1442508767
|
|
|
NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter)
|
rs2153469119
|
|
|
NM_006060.6(IKZF1):c.40+5G>A
|
rs2153363477
|
|
|
NM_006060.6(IKZF1):c.889G>T (p.Ala297Ser)
|
rs2153517575
|
|
|
NM_006070.6(TFG):c.261ATT[1] (p.Leu88del)
|
rs2149066467
|
|
|
NM_006078.5(CACNG2):c.279A>C (p.Thr93=)
|
rs370803277
|
|
|
NM_006079.5(CITED2):c.524C>T (p.Thr175Ile)
|
rs982547840
|
|
|
NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter)
|
rs747485179
|
|
|
NM_006086.4(TUBB3):c.1195A>T (p.Thr399Ser)
|
rs1555625639
|
|
|
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)
|
rs267607165
|
|
|
NM_006086.4(TUBB3):c.167-5C>G
|
rs147928399
|
|
|
NM_006086.4(TUBB3):c.190A>G (p.Ile64Val)
|
rs797046076
|
|
|
NM_006086.4(TUBB3):c.212G>C (p.Gly71Ala)
|
rs2151092293
|
|
|
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)
|
rs587784505
|
|
|
NM_006086.4(TUBB3):c.536T>C (p.Val179Ala)
|
rs1555625574
|
|
|
NM_006086.4(TUBB3):c.613G>A (p.Glu205Lys)
|
rs878853257
|
|
|
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)
|
rs587784506
|
|
|
NM_006086.4(TUBB3):c.740A>G (p.Asn247Ser)
|
rs587784507
|
|
|
NM_006086.4(TUBB3):c.856G>A (p.Val286Met)
|
rs1555625599
|
|
|
NM_006086.4(TUBB3):c.946G>A (p.Val316Met)
|
rs797046077
|
|
|
NM_006086.4(TUBB3):c.993G>A (p.Leu331=)
|
rs61743716
|
|
|
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del)
|
rs753894148
|
|
|
NM_006118.4(HAX1):c.557-12C>G
|
rs1553289863
|
|
|
NM_006118.4(HAX1):c.748A>G (p.Arg250Gly)
|
rs2149140748
|
|
|
NM_006147.4(IRF6):c.288G>A (p.Met96Ile)
|
rs779234287
|
|
|
NM_006208.3(ENPP1):c.1437+9_1437+12del
|
rs376640801
|
|
|
NM_006208.3(ENPP1):c.313+9GT[17]
|
rs59956343
|
|
|
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)
|
rs1057519927
|
|
|
NM_006231.4(POLE):c.-6G>C
|
rs534524789
|
|
|
NM_006231.4(POLE):c.1259G>A (p.Gly420Asp)
|
rs2136000426
|
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
|
NM_006231.4(POLE):c.2096T>A (p.Phe699Tyr)
|
rs2135975452
|
|
|
NM_006231.4(POLE):c.2784C>T (p.Ser928=)
|
rs1011427549
|
|
|
NM_006231.4(POLE):c.2785A>G (p.Ile929Val)
|
rs765066823
|
|
|
NM_006231.4(POLE):c.2908G>A (p.Gly970Ser)
|
rs1480250083
|
|
|
NM_006231.4(POLE):c.4519_4520del (p.Gln1507fs)
|
|
|
|
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg)
|
rs776538943
|
|
|
NM_006231.4(POLE):c.5252C>T (p.Ala1751Val)
|
rs1555222349
|
|
|
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)
|
rs5744971
|
|
|
NM_006231.4(POLE):c.579-3T>C
|
rs1593082215
|
|
|
NM_006260.5(DNAJC3):c.1297A>G (p.Lys433Glu)
|
rs1883624202
|
|
|
NM_006265.3(RAD21):c.1162-6del
|
rs369816312
|
|
|
NM_006265.3(RAD21):c.181_182dup (p.Gly62fs)
|
rs1554612096
|
|
|
NM_006265.3(RAD21):c.269G>A (p.Arg90Gln)
|
rs1554612086
|
|
|
NM_006265.3(RAD21):c.56_62del (p.Leu19fs)
|
rs797045907
|
|
|
NM_006265.3(RAD21):c.579dup (p.Glu194fs)
|
rs797045908
|
|
|
NM_006265.3(RAD21):c.592_593dup (p.Ser198fs)
|
rs797045909
|
|
|
NM_006265.3(RAD21):c.785A>T (p.Asp262Val)
|
rs2130467945
|
|
|
NM_006279.5(ST3GAL3):c.1038+8del
|
rs797046013
|
|
|
NM_006279.5(ST3GAL3):c.1039-7C>A
|
rs587780467
|
|
|
NM_006279.5(ST3GAL3):c.132T>C (p.Leu44=)
|
rs2154152726
|
|
|
NM_006279.5(ST3GAL3):c.23G>A (p.Arg8His)
|
rs900948973
|
|
|
NM_006279.5(ST3GAL3):c.315A>G (p.Pro105=)
|
rs797046014
|
|
|
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser)
|
rs745451424
|
|
|
NM_006279.5(ST3GAL3):c.840C>T (p.Ala280=)
|
rs752116461
|
|
|
NM_006295.3(VARS1):c.892G>A (p.Asp298Asn)
|
rs192008132
|
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
|
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del)
|
rs797045991
|
|
|
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser)
|
rs782697006
|
|
|
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln)
|
rs587784403
|
|
|
NM_006306.4(SMC1A):c.1267C>A (p.Gln423Lys)
|
rs587784404
|
|
|
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly)
|
rs587784405
|
|
|
NM_006306.4(SMC1A):c.1754T>C (p.Leu585Pro)
|
rs587784406
|
|
|
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His)
|
rs587784407
|
|
|
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)
|
rs797045992
|
|
|
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln)
|
rs587784408
|
|
|
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)
|
rs587784409
|
|
|
NM_006306.4(SMC1A):c.2327T>A (p.Val776Glu)
|
rs587784410
|
|
|
NM_006306.4(SMC1A):c.2350A>G (p.Ile784Val)
|
rs587784411
|
|
|
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)
|
rs587784412
|
|
|
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln)
|
rs797045993
|
|
|
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser)
|
rs587784413
|
|
|
NM_006306.4(SMC1A):c.3070A>T (p.Asn1024Tyr)
|
rs587784415
|
|
|
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)
|
rs587784416
|
|
|
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)
|
rs587784418
|
|
|
NM_006306.4(SMC1A):c.3306C>G (p.Asn1102Lys)
|
rs797045994
|
|
|
NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala)
|
rs587784419
|
|
|
NM_006306.4(SMC1A):c.421G>A (p.Glu141Lys)
|
rs587784420
|
|
|
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter)
|
rs587784421
|
|
|
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
|
rs587784422
|
|
|
NM_006306.4(SMC1A):c.616-2A>G
|
rs587784423
|
|
|
NM_006306.4(SMC1A):c.616-6G>A
|
rs587784424
|
|
|
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)
|
rs727503773
|
|
|
NM_006412.4(AGPAT2):c.269G>C (p.Arg90Pro)
|
rs142176861
|
|
|
NM_006412.4(AGPAT2):c.335del (p.Pro112fs)
|
rs1588263957
|
|
|
NM_006420.2(ARFGEF2):c.1062_1067del
|
rs1555810077
|
|
|
NM_006420.3(ARFGEF2):c.1014C>T (p.Asn338=)
|
rs201523904
|
|
|
NM_006420.3(ARFGEF2):c.1426-8T>C
|
rs1555810408
|
|
|
NM_006420.3(ARFGEF2):c.1702G>A (p.Val568Met)
|
rs1555810703
|
|
|
NM_006420.3(ARFGEF2):c.1775-9del
|
rs797045255
|
|
|
NM_006420.3(ARFGEF2):c.178G>A (p.Ala60Thr)
|
rs754961991
|
|
|
NM_006420.3(ARFGEF2):c.1808A>C (p.Asp603Ala)
|
rs1600626622
|
|
|
NM_006420.3(ARFGEF2):c.1979G>A (p.Arg660Lys)
|
rs772051446
|
|
|
NM_006420.3(ARFGEF2):c.2638_2639delinsT (p.Pro880fs)
|
rs1555811929
|
|
|
NM_006420.3(ARFGEF2):c.284T>C (p.Ile95Thr)
|
rs1555808172
|
|
|
NM_006420.3(ARFGEF2):c.3177G>A (p.Ser1059=)
|
rs61748373
|
|
|
NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=)
|
rs61748373
|
|
|
NM_006420.3(ARFGEF2):c.3707A>C (p.His1236Pro)
|
rs369727237
|
|
|
NM_006420.3(ARFGEF2):c.3758-3del
|
rs797045256
|
|
|
NM_006420.3(ARFGEF2):c.3961G>A (p.Gly1321Ser)
|
rs797045257
|
|
|
NM_006420.3(ARFGEF2):c.4136T>C (p.Phe1379Ser)
|
rs587780280
|
|
|
NM_006420.3(ARFGEF2):c.4624+6G>T
|
rs768990826
|
|
|
NM_006420.3(ARFGEF2):c.4756-7C>T
|
rs868504867
|
|
|
NM_006420.3(ARFGEF2):c.5023C>T (p.Arg1675Cys)
|
rs540246597
|
|
|
NM_006420.3(ARFGEF2):c.5064-4C>G
|
rs797045259
|
|
|
NM_006420.3(ARFGEF2):c.5328G>C (p.Gln1776His)
|
rs2123591924
|
|
|
NM_006420.3(ARFGEF2):c.756C>A (p.Asn252Lys)
|
rs114729625
|
|
|
NM_006420.3(ARFGEF2):c.79C>T (p.Pro27Ser)
|
rs587780282
|
|
|
NM_006420.3(ARFGEF2):c.898G>C (p.Ala300Pro)
|
rs797045260
|
|
|
NM_006493.4(CLN5):c.298C>A (p.Pro100Thr)
|
rs2154034644
|
|
|
NM_006493.4(CLN5):c.409G>A (p.Glu137Lys)
|
rs2154034717
|
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
|
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs)
|
rs1555274005
|
|
|
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
|
NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs)
|
rs587784393
|
|
|
NM_006516.4(SLC2A1):c.1007_1009del (p.Leu336del)
|
rs587784389
|
|
|
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)
|
rs587784390
|
|
|
NM_006516.4(SLC2A1):c.1011C>T (p.His337=)
|
rs2229681
|
|
|
NM_006516.4(SLC2A1):c.1023C>G (p.Leu341=)
|
rs143588685
|
|
|
NM_006516.4(SLC2A1):c.1089del (p.Pro362_Trp363insTer)
|
rs587784391
|
|
|
NM_006516.4(SLC2A1):c.229A>G (p.Met77Val)
|
rs776583130
|
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
|
NM_006516.4(SLC2A1):c.426G>T (p.Met142Ile)
|
rs2124450183
|
|
|
NM_006516.4(SLC2A1):c.472A>C (p.Thr158Pro)
|
rs1553156155
|
|
|
NM_006516.4(SLC2A1):c.49G>T (p.Gly17Ter)
|
rs1345986424
|
|
|
NM_006516.4(SLC2A1):c.516+7T>G
|
rs1325285163
|
|
|
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)
|
rs2229682
|
|
|
NM_006516.4(SLC2A1):c.679+4C>A
|
rs139492241
|
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
|
NM_006516.4(SLC2A1):c.679+7G>T
|
rs13306757
|
|
|
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)
|
rs2124449015
|
|
|
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter)
|
rs587784396
|
|
|
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)
|
rs121909740
|
|
|
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter)
|
rs587784397
|
|
|
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)
|
rs80359823
|
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
|
NM_006517.5(SLC16A2):c.-53A>C
|
rs587784385
|
|
|
NM_006517.5(SLC16A2):c.1026+1G>T
|
rs1555989729
|
|
|
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)
|
rs587784384
|
|
|
NM_006517.5(SLC16A2):c.111_116del (p.34_35EP[4])
|
rs1555979545
|
|
|
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)
|
rs797045962
|
|
|
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)
|
rs797045963
|
|
|
NM_006517.5(SLC16A2):c.239C>T (p.Thr80Met)
|
rs797045964
|
|
|
NM_006517.5(SLC16A2):c.256del (p.Arg86fs)
|
rs797045965
|
|
|
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)
|
rs587784386
|
|
|
NM_006517.5(SLC16A2):c.325T>C (p.Trp109Arg)
|
rs2147834066
|
|
|
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)
|
rs797045966
|
|
|
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)
|
rs104894936
|
|
|
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)
|
rs387906501
|
|
|
NM_006517.5(SLC16A2):c.532del (p.Ala178fs)
|
rs1555989375
|
|
|
NM_006517.5(SLC16A2):c.629C>T (p.Ser210Phe)
|
rs746493490
|
|
|
NM_006517.5(SLC16A2):c.850del (p.Leu284fs)
|
rs2147870613
|
|
|
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)
|
rs587784382
|
|
|
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)
|
rs766773277
|
|
|
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)
|
rs587784383
|
|
|
NM_006565.4(CTCF):c.1021C>T (p.Arg341Cys)
|
rs780911615
|
|
|
NM_006565.4(CTCF):c.1659G>A (p.Ala553=)
|
rs749116676
|
|
|
NM_006565.4(CTCF):c.1768G>C (p.Glu590Gln)
|
rs587780324
|
|
|
NM_006579.3(EBP):c.141G>T (p.Trp47Cys)
|
rs587783599
|
|
|
NM_006579.3(EBP):c.182G>A (p.Trp61Ter)
|
rs587783600
|
|
|
NM_006579.3(EBP):c.201_203dup (p.Cys67dup)
|
rs797045542
|
|
|
NM_006579.3(EBP):c.204G>T (p.Trp68Cys)
|
rs587783601
|
|
|
NM_006579.3(EBP):c.214T>C (p.Cys72Arg)
|
rs587783602
|
|
|
NM_006579.3(EBP):c.218G>A (p.Gly73Glu)
|
rs587783603
|
|
|
NM_006579.3(EBP):c.225dup (p.His76fs)
|
rs797045543
|
|
|
NM_006579.3(EBP):c.238G>A (p.Glu80Lys)
|
rs104894800
|
|
|
NM_006579.3(EBP):c.292_296del (p.Ser98fs)
|
rs587783604
|
|
|
NM_006579.3(EBP):c.299T>C (p.Leu100Pro)
|
rs587783605
|
|
|
NM_006579.3(EBP):c.301+2T>A
|
rs587783606
|
|
|
NM_006579.3(EBP):c.303G>T (p.Trp101Cys)
|
rs587783607
|
|
|
NM_006579.3(EBP):c.304A>T (p.Lys102Ter)
|
rs587783608
|
|
|
NM_006579.3(EBP):c.310T>C (p.Tyr104His)
|
rs587783609
|
|
|
NM_006579.3(EBP):c.311A>G (p.Tyr104Cys)
|
rs587783610
|
|
|
NM_006579.3(EBP):c.314C>A (p.Ala105Asp)
|
rs587783611
|
|
|
NM_006579.3(EBP):c.320G>A (p.Gly107Glu)
|
rs587783612
|
|
|
NM_006579.3(EBP):c.328C>T (p.Arg110Ter)
|
rs587783613
|
|
|
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter)
|
rs797045544
|
|
|
NM_006579.3(EBP):c.331T>C (p.Tyr111His)
|
rs587783614
|
|
|
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly)
|
rs797045545
|
|
|
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)
|
rs797045546
|
|
|
NM_006579.3(EBP):c.440G>A (p.Arg147His)
|
rs28935174
|
|
|
NM_006579.3(EBP):c.464_465del (p.Ser155fs)
|
rs587783615
|
|
|
NM_006579.3(EBP):c.469+3A>C
|
rs2147156561
|
|
|
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter)
|
rs587783616
|
|
|
NM_006579.3(EBP):c.481G>A (p.Gly161Arg)
|
rs587783617
|
|
|
NM_006579.3(EBP):c.484dup (p.Asp162fs)
|
rs797045547
|
|
|
NM_006579.3(EBP):c.527A>G (p.His176Arg)
|
rs587783618
|
|
|
NM_006579.3(EBP):c.588G>T (p.Trp196Cys)
|
rs2147157078
|
|
|
NM_006579.3(EBP):c.632T>G (p.Leu211Arg)
|
rs587783619
|
|
|
NM_006579.3(EBP):c.684GAA[1] (p.Lys229del)
|
rs587783620
|
|
|
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys)
|
rs115098969
|
|
|
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr)
|
rs115098969
|
|
|
NM_006642.5(SDCCAG8):c.221-2A>G
|
rs797045946
|
|
|
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)
|
rs797045948
|
|
|
NM_006642.5(SDCCAG8):c.597C>T (p.Gly199=)
|
rs143407309
|
|
|
NM_006659.4(TUBGCP2):c.1145C>T (p.Ala382Val)
|
|
|
|
NM_006662.3(SRCAP):c.189C>G (p.Pro63=)
|
rs79656879
|
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
|
NM_006662.3(SRCAP):c.7382del (p.Pro2461fs)
|
rs2151300137
|
|
|
NM_006662.3(SRCAP):c.7722CTC[1] (p.Ser2576del)
|
rs797046007
|
|
|
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter)
|
rs587784444
|
|
|
NM_006734.4(HIVEP2):c.1722C>T (p.Asp574=)
|
rs559329860
|
|
|
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)
|
rs199474721
|
|
|
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)
|
rs121434638
|
|
|
NM_006765.4(TUSC3):c.-4C>T
|
rs1355253739
|
|
|
NM_006765.4(TUSC3):c.23C>T (p.Ser8Leu)
|
rs1420153973
|
|
|
NM_006765.4(TUSC3):c.283C>G (p.Pro95Ala)
|
rs1344004459
|
|
|
NM_006765.4(TUSC3):c.476G>A (p.Arg159Lys)
|
rs766923947
|
|
|
NM_006765.4(TUSC3):c.484A>G (p.Arg162Gly)
|
rs797046080
|
|
|
NM_006765.4(TUSC3):c.87C>T (p.Leu29=)
|
rs78626330
|
|
|
NM_006767.4(LZTR1):c.791+1G>A
|
rs148031742
|
|
|
NM_006772.3(SYNGAP1):c.1300G>A (p.Val434Ile)
|
rs797046027
|
|
|
NM_006772.3(SYNGAP1):c.156G>A (p.Ser52=)
|
rs1554304681
|
|
|
NM_006772.3(SYNGAP1):c.1576del (p.Glu525_Val526insTer)
|
rs797046028
|
|
|
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)
|
rs587780470
|
|
|
NM_006772.3(SYNGAP1):c.1865CCCTCA[1] (p.622TL[1])
|
rs1554121722
|
|
|
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=)
|
rs73402305
|
|
|
NM_006772.3(SYNGAP1):c.2066_2071delinsC (p.Leu689fs)
|
rs797046029
|
|
|
NM_006772.3(SYNGAP1):c.2067C>T (p.Leu689=)
|
rs1554121850
|
|
|
NM_006772.3(SYNGAP1):c.2168C>T (p.Thr723Ile)
|
rs774729898
|
|
|
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys)
|
rs1202720979
|
|
|
NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs)
|
rs587780474
|
|
|
NM_006772.3(SYNGAP1):c.2619C>G (p.Ser873Arg)
|
rs2151188538
|
|
|
NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His)
|
rs1554122236
|
|
|
NM_006772.3(SYNGAP1):c.272A>G (p.Glu91Gly)
|
rs1554119835
|
|
|
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter)
|
rs749188610
|
|
|
NM_006772.3(SYNGAP1):c.2983C>T (p.Pro995Ser)
|
rs1554122279
|
|
|
NM_006772.3(SYNGAP1):c.3174T>G (p.Gly1058=)
|
rs1485118493
|
|
|
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)
|
rs1131691979
|
|
|
NM_006772.3(SYNGAP1):c.3363C>T (p.Ser1121=)
|
rs1478769596
|
|
|
NM_006772.3(SYNGAP1):c.3592del (p.Tyr1198fs)
|
rs797046030
|
|
|
NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs)
|
rs1554122735
|
|
|
NM_006772.3(SYNGAP1):c.3902C>A (p.Pro1301His)
|
rs199694815
|
|
|
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter)
|
rs397514741
|
|
|
NM_006772.3(SYNGAP1):c.762+1G>T
|
rs797046031
|
|
|
NM_006796.3(AFG3L2):c.2062C>G (p.Pro688Ala)
|
rs797045221
|
|
|
NM_006908.5(RAC1):c.151G>A (p.Val51Met)
|
rs1554263625
|
|
|
NM_006910.5(RBBP6):c.1211C>T (p.Ser404Phe)
|
|
|
|
NM_006910.5(RBBP6):c.1495G>A (p.Gly499Ser)
|
|
|
|
NM_006910.5(RBBP6):c.348+2TA[9]
|
|
|
|
NM_006910.5(RBBP6):c.3998T>G (p.Val1333Gly)
|
rs1007657452
|
|
|
NM_006910.5(RBBP6):c.4246C>G (p.Pro1416Ala)
|
rs2141480056
|
|
|
NM_006910.5(RBBP6):c.4311A>G (p.Gln1437=)
|
|
|
|
NM_006910.5(RBBP6):c.438-8_438-7delinsTT
|
|
|
|
NM_006910.5(RBBP6):c.4668A>G (p.Glu1556=)
|
|
|
|
NM_006910.5(RBBP6):c.4713G>T (p.Lys1571Asn)
|
|
|
|
NM_006910.5(RBBP6):c.504A>C (p.Gly168=)
|
|
|
|
NM_006910.5(RBBP6):c.5092_5103del (p.Val1698_Ser1701del)
|
|
|
|
NM_006910.5(RBBP6):c.5119_5121del (p.Ser1707del)
|
rs760532032
|
|
|
NM_006910.5(RBBP6):c.999A>G (p.Arg333=)
|
|
|
|
NM_006946.4(SPTBN2):c.1042A>G (p.Asn348Asp)
|
rs1554987311
|
|
|
NM_006946.4(SPTBN2):c.1043A>T (p.Asn348Ile)
|
rs797046005
|
|
|
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)
|
rs1554986345
|
|
|
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)
|
rs1554985851
|
|
|
NM_006946.4(SPTBN2):c.172G>A (p.Val58Met)
|
rs1554989512
|
|
|
NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu)
|
rs797046006
|
|
|
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)
|
rs1554984881
|
|
|
NM_006947.4(SRP72):c.1119T>A (p.Ala373=)
|
rs2110124160
|
|
|
NM_006947.4(SRP72):c.1321-4_1321-3del
|
rs1259551381
|
|
|
NM_006947.4(SRP72):c.1341G>A (p.Leu447=)
|
|
|
|
NM_006947.4(SRP72):c.1502+9T>C
|
rs2110127230
|
|
|
NM_006947.4(SRP72):c.1503-4A>G
|
rs1553947220
|
|
|
NM_006947.4(SRP72):c.1503-6T>C
|
rs1055745050
|
|
|
NM_006947.4(SRP72):c.1650T>C (p.Asp550=)
|
rs202073540
|
|
|
NM_006947.4(SRP72):c.1938C>T (p.His646=)
|
rs1721270142
|
|
|
NM_006947.4(SRP72):c.19G>C (p.Gly7Arg)
|
rs17524437
|
|
|
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu)
|
rs139502866
|
|
|
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala)
|
rs139502866
|
|
|
NM_006947.4(SRP72):c.21G>A (p.Gly7=)
|
rs12513091
|
|
|
NM_006947.4(SRP72):c.21G>C (p.Gly7=)
|
rs12513091
|
|
|
NM_006947.4(SRP72):c.249A>G (p.Glu83=)
|
rs2110111852
|
|
|
NM_006947.4(SRP72):c.42G>C (p.Leu14=)
|
rs748234107
|
|
|
NM_006947.4(SRP72):c.499-7_499-6del
|
rs2110113894
|
|
|
NM_006947.4(SRP72):c.643-5C>T
|
rs2110117339
|
|
|
NM_006947.4(SRP72):c.883G>A (p.Glu295Lys)
|
rs797046010
|
|
|
NM_006947.4(SRP72):c.892C>T (p.Leu298Phe)
|
rs797046011
|
|
|
NM_006947.4(SRP72):c.969C>T (p.Cys323=)
|
rs2110122856
|
|
|
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)
|
rs35490401
|
|
|
NM_006950.3(SYN1):c.1056-10_1056-8del
|
rs797046018
|
|
|
NM_006950.3(SYN1):c.1321G>A (p.Ala441Thr)
|
rs772106134
|
|
|
NM_006950.3(SYN1):c.1367C>G (p.Pro456Arg)
|
rs769924948
|
|
|
NM_006950.3(SYN1):c.1414C>T (p.Pro472Ser)
|
rs797046019
|
|
|
NM_006950.3(SYN1):c.1621G>C (p.Gly541Arg)
|
rs587780468
|
|
|
NM_006950.3(SYN1):c.508A>T (p.Asn170Tyr)
|
rs797046020
|
|
|
NM_006950.3(SYN1):c.60del (p.Tyr21fs)
|
rs2147933547
|
|
|
NM_006950.3(SYN1):c.817G>A (p.Ala273Thr)
|
rs760401568
|
|
|
NM_006950.3(SYN1):c.838-3C>T
|
rs797046021
|
|
|
NM_006982.3(ALX1):c.190C>T (p.Arg64Cys)
|
rs145944049
|
|
|
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu)
|
rs34588967
|
|
|
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg)
|
rs1446265632
|
|
|
NM_007055.4(POLR3A):c.3243-1G>A
|
rs1554837782
|
|
|
NM_007059.4(KPTN):c.1000-5C>T
|
rs1046029135
|
|
|
NM_007059.4(KPTN):c.469C>G (p.Leu157Val)
|
rs755709167
|
|
|
NM_007059.4(KPTN):c.709+7G>C
|
rs987680167
|
|
|
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup)
|
rs587777148
|
|
|
NM_007059.4(KPTN):c.777G>A (p.Ser259=)
|
rs758438766
|
|
|
NM_007078.3(LDB3):c.896+6669TC[11]
|
rs71019410
|
|
|
NM_007078.3(LDB3):c.896+6669TC[13]
|
rs71019410
|
|
|
NM_007118.4(TRIO):c.3825T>G (p.Leu1275=)
|
rs2152361847
|
|
|
NM_007118.4(TRIO):c.6611A>G (p.Lys2204Arg)
|
rs141648983
|
|
|
NM_007129.5(ZIC2):c.1085_1131del (p.Pro362fs)
|
rs1555332362
|
|
|
NM_007129.5(ZIC2):c.739A>G (p.Met247Val)
|
rs2053243222
|
|
|
NM_007129.5(ZIC2):c.968A>G (p.His323Arg)
|
rs2152162755
|
|
|
NM_007137.5(ZNF81):c.350G>A (p.Gly117Asp)
|
rs17147793
|
|
|
NM_007175.8(ERLIN2):c.1002_1007del (p.Ala335_Thr336del)
|
rs797045563
|
|
|
NM_007175.8(ERLIN2):c.299-4_299-3del
|
rs778852699
|
|
|
NM_007175.8(ERLIN2):c.557_557+10delinsCCTGGCTGTGACCTGGGCTGTGA
|
rs1554517382
|
|
|
NM_007175.8(ERLIN2):c.740-5C>G
|
rs191003311
|
|
|
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr)
|
rs863224746
|
|
|
NM_007194.4(CHEK2):c.1160C>A (p.Thr387Asn)
|
rs587780168
|
|
|
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs)
|
rs2145803112
|
|
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
|
NM_007194.4(CHEK2):c.254C>A (p.Pro85His)
|
rs17883862
|
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
|
NM_007194.4(CHEK2):c.346G>C (p.Gly116Arg)
|
rs2146071181
|
|
|
NM_007194.4(CHEK2):c.474A>C (p.Ala158=)
|
rs745699485
|
|
|
NM_007194.4(CHEK2):c.474A>G (p.Ala158=)
|
rs745699485
|
|
|
NM_007194.4(CHEK2):c.614C>T (p.Thr205Ile)
|
rs759734429
|
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
|
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu)
|
rs876660742
|
|
|
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu)
|
rs779607427
|
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
|
|
NM_007209.4(RPL35):c.250C>T (p.Arg84Trp)
|
|
|
|
NM_007214.5(SEC63):c.733+1G>A
|
rs886041028
|
|
|
NM_007250.5(KLF8):c.462G>A (p.Gln154=)
|
rs1555934005
|
|
|
NM_007254.4(PNKP):c.1052C>G (p.Pro351Arg)
|
rs797045891
|
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
|
NM_007254.4(PNKP):c.1286_1298+6dup
|
rs760249644
|
|
|
NM_007254.4(PNKP):c.1295_1298+6del
|
rs587784366
|
|
|
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly)
|
rs377688490
|
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
|
NM_007254.4(PNKP):c.1386+49_1387-33del
|
rs752902474
|
|
|
NM_007254.4(PNKP):c.1462dup (p.Ala488fs)
|
rs1343679884
|
|
|
NM_007254.4(PNKP):c.1482C>A (p.Gly494=)
|
rs60279874
|
|
|
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=)
|
rs760131892
|
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
|
NM_007254.4(PNKP):c.457T>C (p.Leu153=)
|
rs587784368
|
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
|
NM_007254.4(PNKP):c.598C>A (p.Pro200Thr)
|
rs1555811465
|
|
|
NM_007254.4(PNKP):c.613G>A (p.Glu205Lys)
|
rs1555811461
|
|
|
NM_007254.4(PNKP):c.663C>T (p.Ser221=)
|
rs1376565938
|
|
|
NM_007254.4(PNKP):c.666C>T (p.Ile222=)
|
rs587784369
|
|
|
NM_007254.4(PNKP):c.936+13dup
|
rs3739200
|
|
|
NM_007254.4(PNKP):c.959C>A (p.Pro320His)
|
rs1428228072
|
|
|
NM_007259.5(VPS45):c.1371+9A>T
|
rs368568806
|
|
|
NM_007259.5(VPS45):c.229G>A (p.Glu77Lys)
|
rs2101495514
|
|
|
NM_007259.5(VPS45):c.235G>A (p.Val79Met)
|
rs1655111590
|
|
|
NM_007259.5(VPS45):c.536T>C (p.Leu179Pro)
|
rs2101519785
|
|
|
NM_007259.5(VPS45):c.888G>A (p.Lys296=)
|
rs1315600520
|
|
|
NM_007289.4(MME):c.1272del (p.Arg425fs)
|
rs1060499935
|
|
|
NM_007289.4(MME):c.1400dup (p.Arg468fs)
|
rs751149568
|
|
|
NM_007294.4(BRCA1):c.*306C>G
|
rs1336759680
|
|
|
NM_007294.4(BRCA1):c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG
|
rs2152399492
|
|
|
NM_007294.4(BRCA1):c.*482T>G
|
rs2152380895
|
|
|
NM_007294.4(BRCA1):c.*548G>C
|
rs2152367567
|
|
|
NM_007294.4(BRCA1):c.*565del
|
rs1161373562
|
|
|
NM_007294.4(BRCA1):c.*616_*617delinsAA
|
rs2152346777
|
|
|
NM_007294.4(BRCA1):c.*683C>G
|
rs2050815603
|
|
|
NM_007294.4(BRCA1):c.*859A>C
|
rs2050804212
|
|
|
NM_007294.4(BRCA1):c.*867_*873del
|
rs59541324
|
|
|
NM_007294.4(BRCA1):c.*869_*873del
|
rs59541324
|
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
|
NM_007294.4(BRCA1):c.120C>T (p.Asp40=)
|
rs1060504580
|
|
|
NM_007294.4(BRCA1):c.1248A>G (p.Leu416=)
|
rs1057522369
|
|
|
NM_007294.4(BRCA1):c.1255del (p.Glu418_Val419insTer)
|
rs80357535
|
|
|
NM_007294.4(BRCA1):c.1413C>T (p.Leu471=)
|
rs2154447279
|
|
|
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)
|
rs80356910
|
|
|
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del)
|
rs587781614
|
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
|
NM_007294.4(BRCA1):c.1875A>G (p.Leu625=)
|
rs786201429
|
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
|
NM_007294.4(BRCA1):c.2342A>C (p.Glu781Ala)
|
rs587776482
|
|
|
NM_007294.4(BRCA1):c.243A>G (p.Gln81=)
|
rs863224418
|
|
|
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp)
|
rs397508970
|
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
|
NM_007294.4(BRCA1):c.3167C>T (p.Ser1056Phe)
|
rs587781588
|
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
|
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His)
|
rs56214134
|
|
|
NM_007294.4(BRCA1):c.3745A>G (p.Thr1249Ala)
|
rs1555587189
|
|
|
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val)
|
rs80357217
|
|
|
NM_007294.4(BRCA1):c.4046C>G (p.Thr1349Arg)
|
rs80357345
|
|
|
NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile)
|
rs374192364
|
|
|
NM_007294.4(BRCA1):c.4186-10G>A
|
rs80358172
|
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
|
NM_007294.4(BRCA1):c.4393A>G (p.Ile1465Val)
|
rs1567779778
|
|
|
NM_007294.4(BRCA1):c.441+9A>G
|
rs1555596273
|
|
|
NM_007294.4(BRCA1):c.4565A>G (p.Tyr1522Cys)
|
rs80357379
|
|
|
NM_007294.4(BRCA1):c.466C>T (p.Leu156Phe)
|
rs587778115
|
|
|
NM_007294.4(BRCA1):c.4962G>A (p.Val1654=)
|
rs549640262
|
|
|
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys)
|
rs80357205
|
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
|
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly)
|
rs80357270
|
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
|
NM_007294.4(BRCA1):c.683T>A (p.Phe228Tyr)
|
rs191872612
|
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
|
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs)
|
rs80357696
|
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
|
NM_007294.4(BRCA1):c.829A>G (p.Asn277Asp)
|
rs2054040121
|
|
|
NM_007325.5(GRIA3):c.162C>T (p.Ala54=)
|
rs758158942
|
|
|
NM_007327.4(GRIN1):c.1339+7GCGCGGGGCAGGGCGCGGG[3]
|
rs761110882
|
|
|
NM_007327.4(GRIN1):c.1340C>T (p.Pro447Leu)
|
rs587780348
|
|
|
NM_007327.4(GRIN1):c.1701G>A (p.Gly567=)
|
rs1554770070
|
|
|
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln)
|
rs781053477
|
|
|
NM_007327.4(GRIN1):c.381C>A (p.Ile127=)
|
rs368378783
|
|
|
NM_007347.5(AP4E1):c.1425G>A (p.Ala475=)
|
rs369028190
|
|
|
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro)
|
rs1176175925
|
|
|
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu)
|
rs142762839
|
|
|
NM_007347.5(AP4E1):c.1747G>T (p.Asp583Tyr)
|
rs2140878253
|
|
|
NM_007347.5(AP4E1):c.1851+2_1851+5dup
|
rs778162120
|
|
|
NM_007347.5(AP4E1):c.1931A>G (p.His644Arg)
|
rs1470099420
|
|
|
NM_007347.5(AP4E1):c.197C>T (p.Thr66Ile)
|
rs1555453222
|
|
|
NM_007347.5(AP4E1):c.222+9G>A
|
rs797045245
|
|
|
NM_007347.5(AP4E1):c.2227C>G (p.Gln743Glu)
|
rs1555462180
|
|
|
NM_007347.5(AP4E1):c.2495C>T (p.Ser832Leu)
|
rs144189610
|
|
|
NM_007347.5(AP4E1):c.3264G>C (p.Gly1088=)
|
rs797045246
|
|
|
NM_007347.5(AP4E1):c.685T>C (p.Tyr229His)
|
rs1555455264
|
|
|
NM_007347.5(AP4E1):c.711A>T (p.Ser237=)
|
rs797045247
|
|
|
NM_012082.4(ZFPM2):c.965-9TC[2]
|
rs147661076
|
|
|
NM_012096.3(APPL1):c.1089T>C (p.His363=)
|
|
|
|
NM_012096.3(APPL1):c.1433G>A (p.Arg478His)
|
|
|
|
NM_012096.3(APPL1):c.1930_1933del (p.Glu643_Arg644insTer)
|
rs757479184
|
|
|
NM_012096.3(APPL1):c.200A>G (p.Glu67Gly)
|
rs141978531
|
|
|
NM_012156.2(EPB41L1):c.1640C>G (p.Pro547Arg)
|
rs6089016
|
|
|
NM_012156.2(EPB41L1):c.531G>T (p.Pro177=)
|
rs139137163
|
|
|
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)
|
rs2148711383
|
|
|
NM_012210.4(TRIM32):c.196_205del (p.Lys66fs)
|
rs1554732623
|
|
|
NM_012216.4(MID2):c.1074-4del
|
rs758037994
|
|
|
NM_012216.4(MID2):c.1662G>T (p.Leu554Phe)
|
rs749983502
|
|
|
NM_012233.3(RAB3GAP1):c.18+4A>G
|
rs550325115
|
|
|
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter)
|
rs797045905
|
|
|
NM_012233.3(RAB3GAP1):c.43A>G (p.Thr15Ala)
|
rs1429686632
|
|
|
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)
|
rs1064794536
|
|
|
NM_012280.4(FTSJ1):c.366C>A (p.Thr122=)
|
rs560411675
|
|
|
NM_012301.4(MAGI2):c.2723C>A (p.Pro908His)
|
rs150080418
|
|
|
NM_012301.4(MAGI2):c.3400C>G (p.Leu1134Val)
|
rs587780388
|
|
|
NM_012301.4(MAGI2):c.4177GGC[6] (p.Gly1395_Gly1396dup)
|
rs797045686
|
|
|
NM_012309.5(SHANK2):c.1987C>T (p.Gln663Ter)
|
rs2134263074
|
|
|
NM_012309.5(SHANK2):c.2076T>G (p.Asn692Lys)
|
rs1555159199
|
|
|
NM_012309.5(SHANK2):c.2529G>T (p.Thr843=)
|
rs782139196
|
|
|
NM_012309.5(SHANK2):c.2667T>G (p.Pro889=)
|
rs1555154613
|
|
|
NM_012309.5(SHANK2):c.2792A>C (p.Lys931Thr)
|
rs587780458
|
|
|
NM_012309.5(SHANK2):c.3266G>A (p.Arg1089His)
|
rs781863842
|
|
|
NM_012309.5(SHANK2):c.3888G>A (p.Lys1296=)
|
rs782037330
|
|
|
NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup)
|
rs756656381
|
|
|
NM_012309.5(SHANK2):c.4183C>T (p.Pro1395Ser)
|
rs562626379
|
|
|
NM_012309.5(SHANK2):c.5449_5452del (p.Leu1817fs)
|
rs2135661818
|
|
|
NM_012309.5(SHANK2):c.5494C>T (p.Arg1832Ter)
|
rs587780459
|
|
|
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del)
|
rs71929101
|
|
|
NM_012414.4(RAB3GAP2):c.1030A>G (p.Asn344Asp)
|
rs1174986383
|
|
|
NM_012414.4(RAB3GAP2):c.1631+8G>T
|
rs1553276397
|
|
|
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs)
|
rs1553275687
|
|
|
NM_012414.4(RAB3GAP2):c.2269C>T (p.His757Tyr)
|
rs1553275637
|
|
|
NM_012414.4(RAB3GAP2):c.2648C>T (p.Thr883Ile)
|
rs797045906
|
|
|
NM_012414.4(RAB3GAP2):c.278G>C (p.Arg93Pro)
|
rs371630366
|
|
|
NM_012414.4(RAB3GAP2):c.3965AAG[1] (p.Glu1323del)
|
rs371310481
|
|
|
NM_012414.4(RAB3GAP2):c.4025T>C (p.Met1342Thr)
|
rs1553272940
|
|
|
NM_012452.3(TNFRSF13B):c.485T>G (p.Leu162Arg)
|
rs1555548572
|
|
|
NM_012463.4(ATP6V0A2):c.1147G>A (p.Val383Met)
|
rs1555298342
|
|
|
NM_012463.4(ATP6V0A2):c.1577G>A (p.Arg526Gln)
|
rs757432786
|
|
|
NM_012463.4(ATP6V0A2):c.548G>A (p.Gly183Glu)
|
rs1555296748
|
|
|
NM_013275.6(ANKRD11):c.2464C>T (p.Gln822Ter)
|
rs2151759808
|
|
|
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)
|
rs929007085
|
|
|
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs)
|
rs1555528400
|
|
|
NM_013275.6(ANKRD11):c.4244A>G (p.Glu1415Gly)
|
rs756014125
|
|
|
NM_013275.6(ANKRD11):c.6072G>C (p.Pro2024=)
|
rs542077760
|
|
|
NM_013275.6(ANKRD11):c.6218C>T (p.Pro2073Leu)
|
rs770387752
|
|
|
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter)
|
rs1381957912
|
|
|
NM_013275.6(ANKRD11):c.6893G>T (p.Arg2298Leu)
|
rs1304326484
|
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
|
NM_013275.6(ANKRD11):c.988A>G (p.Lys330Glu)
|
rs1555529962
|
|
|
NM_013296.5(GPSM2):c.2004T>G (p.Asn668Lys)
|
rs762004200
|
|
|
NM_013328.4(PYCR2):c.139-2A>C
|
rs1553500497
|
|
|
NM_013328.4(PYCR2):c.139-7_139-6del
|
rs146634256
|
|
|
NM_013339.4(ALG6):c.390G>T (p.Leu130Phe)
|
rs961740482
|
|
|
NM_013339.4(ALG6):c.536T>G (p.Leu179Arg)
|
rs797045225
|
|
|
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)
|
rs2100421727
|
|
|
NM_013339.4(ALG6):c.802C>T (p.Arg268Cys)
|
rs746339839
|
|
|
NM_013339.4(ALG6):c.908_910del (p.Cys303del)
|
rs1057517952
|
|
|
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs)
|
rs1555356398
|
|
|
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu)
|
rs753037500
|
|
|
NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA
|
rs797045898
|
|
|
NM_013382.7(POMT2):c.678del (p.Trp226fs)
|
rs755660222
|
|
|
NM_013382.7(POMT2):c.713G>T (p.Gly238Val)
|
rs1555354172
|
|
|
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)
|
rs143790434
|
|
|
NM_014008.5(CCDC22):c.681C>G (p.Asp227Glu)
|
rs2147938193
|
|
|
NM_014008.5(CCDC22):c.747= (p.Gln249=)
|
rs2294020
|
|
|
NM_014009.4(FOXP3):c.*867G>C
|
rs181219991
|
|
|
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met)
|
rs1557115532
|
|
|
NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del)
|
rs781861708
|
|
|
NM_014009.4(FOXP3):c.434C>T (p.Ala145Val)
|
rs782528935
|
|
|
NM_014009.4(FOXP3):c.727del (p.Glu243fs)
|
rs797045588
|
|
|
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=)
|
rs535454043
|
|
|
NM_014141.6(CNTNAP2):c.1566G>C (p.Gln522His)
|
rs535454043
|
|
|
NM_014141.6(CNTNAP2):c.1846C>T (p.Pro616Ser)
|
rs587780319
|
|
|
NM_014141.6(CNTNAP2):c.2238C>T (p.Asp746=)
|
rs375648820
|
|
|
NM_014141.6(CNTNAP2):c.2323A>G (p.Thr775Ala)
|
rs1460251447
|
|
|
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu)
|
rs138517537
|
|
|
NM_014141.6(CNTNAP2):c.2744G>A (p.Arg915His)
|
rs369919189
|
|
|
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile)
|
rs146225600
|
|
|
NM_014141.6(CNTNAP2):c.3248-3T>C
|
rs794727326
|
|
|
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser)
|
rs727503878
|
|
|
NM_014141.6(CNTNAP2):c.3678C>G (p.Ser1226=)
|
rs201219937
|
|
|
NM_014141.6(CNTNAP2):c.3716-17TCTT[3]
|
rs142426153
|
|
|
NM_014141.6(CNTNAP2):c.3716-5_3716-4insCTGT
|
rs60451214
|
|
|
NM_014141.6(CNTNAP2):c.927C>T (p.Asp309=)
|
rs1268578810
|
|
|
NM_014159.7(SETD2):c.4918-78AC[17]
|
rs61571386
|
|
|
NM_014159.7(SETD2):c.5268A>G (p.Glu1756=)
|
rs752039809
|
|
|
NM_014159.7(SETD2):c.5475A>C (p.Gln1825His)
|
rs761473538
|
|
|
NM_014159.7(SETD2):c.6110-27_6110-26del
|
rs10589946
|
|
|
NM_014168.4(METTL5):c.103A>G (p.Ile35Val)
|
|
|
|
NM_014168.4(METTL5):c.109+9G>A
|
|
|
|
NM_014168.4(METTL5):c.364dup (p.Thr122fs)
|
rs2105721517
|
|
|
NM_014171.6(CRIPT):c.138-5del
|
rs60552651
|
|
|
NM_014176.4(UBE2T):c.-4G>T
|
rs781712660
|
|
|
NM_014176.4(UBE2T):c.387C>G (p.Ser129=)
|
rs2148339429
|
|
|
NM_014236.4(GNPAT):c.569-11del
|
rs199905093
|
|
|
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)
|
rs1555762722
|
|
|
NM_014317.5(PDSS1):c.751A>G (p.Asn251Asp)
|
|
|
|
NM_014321.4(ORC6):c.1A>G (p.Met1Val)
|
rs777153067
|
|
|
NM_014321.4(ORC6):c.360-13A>G
|
rs797045853
|
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
|
NM_014363.6(SACS):c.13527dup (p.Glu4510fs)
|
rs797045936
|
|
|
NM_014363.6(SACS):c.1919_1920del (p.His640fs)
|
rs797045937
|
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
|
NM_014363.6(SACS):c.3309dup (p.Val1104fs)
|
rs2137636629
|
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
|
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu)
|
rs797045938
|
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
|
NM_014423.4(AFF4):c.1749G>T (p.Lys583Asn)
|
rs2150072957
|
|
|
NM_014444.5(TUBGCP4):c.1066-10C>G
|
rs200550774
|
|
|
NM_014444.5(TUBGCP4):c.1476G>A (p.Gln492=)
|
rs1555396307
|
|
|
NM_014444.5(TUBGCP4):c.914A>C (p.Asp305Ala)
|
rs1555394750
|
|
|
NM_014467.3(SRPX2):c.1393G>A (p.Glu465Lys)
|
rs898722174
|
|
|
NM_014467.3(SRPX2):c.515G>A (p.Gly172Asp)
|
rs775513104
|
|
|
NM_014491.4(FOXP2):c.282G>T (p.Met94Ile)
|
rs797045587
|
|
|
NM_014714.4(IFT140):c.4183-9C>G
|
rs2141090224
|
|
|
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)
|
rs4786350
|
|
|
NM_014738.6(TMEM94):c.3625G>T (p.Val1209Phe)
|
rs148064514
|
|
|
NM_014738.6(TMEM94):c.3634C>T (p.Pro1212Ser)
|
rs141765616
|
|
|
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)
|
rs786204815
|
|
|
NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter)
|
rs797046117
|
|
|
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=)
|
rs34890427
|
|
|
NM_014795.4(ZEB2):c.1426dup (p.Met476fs)
|
rs587776604
|
|
|
NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter)
|
rs1553961702
|
|
|
NM_014795.4(ZEB2):c.1542G>A (p.Pro514=)
|
rs141674976
|
|
|
NM_014795.4(ZEB2):c.1875C>T (p.Ala625=)
|
rs752759296
|
|
|
NM_014795.4(ZEB2):c.1916T>C (p.Val639Ala)
|
rs780637261
|
|
|
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter)
|
rs587784563
|
|
|
NM_014795.4(ZEB2):c.2061del (p.Phe687fs)
|
rs797046118
|
|
|
NM_014795.4(ZEB2):c.2072G>A (p.Trp691Ter)
|
rs1553961610
|
|
|
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)
|
rs137852981
|
|
|
NM_014795.4(ZEB2):c.2162C>T (p.Pro721Leu)
|
rs1240429329
|
|
|
NM_014795.4(ZEB2):c.2329C>T (p.His777Tyr)
|
rs587784564
|
|
|
NM_014795.4(ZEB2):c.2404_2407del (p.Thr802fs)
|
rs797046119
|
|
|
NM_014795.4(ZEB2):c.2501del (p.Lys834fs)
|
rs587784565
|
|
|
NM_014795.4(ZEB2):c.2691T>A (p.Ala897=)
|
rs1553961508
|
|
|
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)
|
rs587784566
|
|
|
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter)
|
rs797046120
|
|
|
NM_014795.4(ZEB2):c.3067+6A>T
|
rs143450927
|
|
|
NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter)
|
rs1553960793
|
|
|
NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter)
|
rs797046121
|
|
|
NM_014795.4(ZEB2):c.3141G>C (p.Arg1047Ser)
|
rs587784567
|
|
|
NM_014795.4(ZEB2):c.3304G>A (p.Glu1102Lys)
|
rs1553960767
|
|
|
NM_014795.4(ZEB2):c.550_568del (p.Ser184fs)
|
rs587784568
|
|
|
NM_014795.4(ZEB2):c.582A>G (p.Gln194=)
|
rs918109625
|
|
|
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter)
|
rs797046122
|
|
|
NM_014795.4(ZEB2):c.702C>T (p.His234=)
|
rs140169964
|
|
|
NM_014795.4(ZEB2):c.746C>T (p.Thr249Met)
|
rs1248212141
|
|
|
NM_014795.4(ZEB2):c.747G>A (p.Thr249=)
|
rs587784569
|
|
|
NM_014795.4(ZEB2):c.808-4A>G
|
rs759097764
|
|
|
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter)
|
rs587784570
|
|
|
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)
|
rs587784571
|
|
|
NM_014795.4(ZEB2):c.9G>A (p.Gln3=)
|
rs149882004
|
|
|
NM_014795.4(ZEB2):c.9G>C (p.Gln3His)
|
rs149882004
|
|
|
NM_014832.5(TBC1D4):c.1810T>G (p.Tyr604Asp)
|
rs587780478
|
|
|
NM_014832.5(TBC1D4):c.3664-19dup
|
rs35186786
|
|
|
NM_014832.5(TBC1D4):c.3810C>G (p.Pro1270=)
|
rs374784151
|
|
|
NM_014832.5(TBC1D4):c.492C>T (p.Pro164=)
|
rs2138367495
|
|
|
NM_014832.5(TBC1D4):c.7C>A (p.Pro3Thr)
|
rs1555327550
|
|
|
NM_014846.4(WASHC5):c.1865A>G (p.Tyr622Cys)
|
rs1253149472
|
|
|
NM_014846.4(WASHC5):c.3029T>G (p.Leu1010Ter)
|
rs749808080
|
|
|
NM_014875.3(KIF14):c.2040C>T (p.Pro680=)
|
|
|
|
NM_014875.3(KIF14):c.2327C>A (p.Ala776Asp)
|
rs903390215
|
|
|
NM_014875.3(KIF14):c.4782G>C (p.Trp1594Cys)
|
rs764577786
|
|
|
NM_014908.4(DOLK):c.1112T>A (p.Ile371Asn)
|
rs2131127437
|
|
|
NM_014908.4(DOLK):c.2T>C (p.Met1Thr)
|
rs587777137
|
|
|
NM_014915.3(ANKRD26):c.-119C>G
|
rs1554800065
|
|
|
NM_014915.3(ANKRD26):c.-120A>G
|
rs1589393772
|
|
|
NM_014915.3(ANKRD26):c.-53C>T
|
rs2056612037
|
|
|
NM_014915.3(ANKRD26):c.-77C>G
|
rs546768605
|
|
|
NM_014915.3(ANKRD26):c.1110dup (p.Glu371fs)
|
rs775948884
|
|
|
NM_014915.3(ANKRD26):c.1269+10A>G
|
rs768821093
|
|
|
NM_014915.3(ANKRD26):c.1269+3A>G
|
rs770314193
|
|
|
NM_014915.3(ANKRD26):c.133C>T (p.Arg45Ter)
|
|
|
|
NM_014915.3(ANKRD26):c.1340A>G (p.Asn447Ser)
|
|
|
|
NM_014915.3(ANKRD26):c.1363+1G>T
|
rs2055154214
|
|
|
NM_014915.3(ANKRD26):c.141C>A (p.Leu47=)
|
rs373157833
|
|
|
NM_014915.3(ANKRD26):c.1571A>G (p.His524Arg)
|
rs199656285
|
|
|
NM_014915.3(ANKRD26):c.1590AGA[2] (p.Glu533del)
|
rs138423863
|
|
|
NM_014915.3(ANKRD26):c.1619A>C (p.Glu540Ala)
|
rs1233286857
|
|
|
NM_014915.3(ANKRD26):c.1835T>C (p.Met612Thr)
|
rs2135318717
|
|
|
NM_014915.3(ANKRD26):c.2048A>G (p.Asp683Gly)
|
rs1340915495
|
|
|
NM_014915.3(ANKRD26):c.20A>G (p.Lys7Arg)
|
rs1431135100
|
|
|
NM_014915.3(ANKRD26):c.243-85_243-76del
|
rs797045239
|
|
|
NM_014915.3(ANKRD26):c.2458G>C (p.Glu820Gln)
|
rs746927502
|
|
|
NM_014915.3(ANKRD26):c.2539G>C (p.Val847Leu)
|
rs1361985075
|
|
|
NM_014915.3(ANKRD26):c.267C>T (p.Ala89=)
|
rs2135736845
|
|
|
NM_014915.3(ANKRD26):c.2807A>G (p.Gln936Arg)
|
rs2135193343
|
|
|
NM_014915.3(ANKRD26):c.320A>G (p.Asn107Ser)
|
rs756157730
|
|
|
NM_014915.3(ANKRD26):c.329A>G (p.Asp110Gly)
|
|
|
|
NM_014915.3(ANKRD26):c.349C>G (p.Leu117Val)
|
rs2135735955
|
|
|
NM_014915.3(ANKRD26):c.3686C>T (p.Ala1229Val)
|
rs1386447841
|
|
|
NM_014915.3(ANKRD26):c.3710T>C (p.Met1237Thr)
|
rs760695730
|
|
|
NM_014915.3(ANKRD26):c.371A>T (p.Gln124Leu)
|
rs200100926
|
|
|
NM_014915.3(ANKRD26):c.4109C>T (p.Thr1370Ile)
|
rs2053529351
|
|
|
NM_014915.3(ANKRD26):c.4125T>G (p.Asn1375Lys)
|
rs1449107925
|
|
|
NM_014915.3(ANKRD26):c.4336A>G (p.Lys1446Glu)
|
rs1442611750
|
|
|
NM_014915.3(ANKRD26):c.4342del (p.Gln1448fs)
|
rs2134972435
|
|
|
NM_014915.3(ANKRD26):c.4507G>T (p.Ala1503Ser)
|
rs1025942290
|
|
|
NM_014915.3(ANKRD26):c.4715A>G (p.Lys1572Arg)
|
rs1250389794
|
|
|
NM_014915.3(ANKRD26):c.4724+2T>A
|
rs2134925272
|
|
|
NM_014915.3(ANKRD26):c.4953+1G>T
|
rs758267677
|
|
|
NM_014915.3(ANKRD26):c.697A>G (p.Asn233Asp)
|
rs2135675645
|
|
|
NM_014915.3(ANKRD26):c.710-6T>C
|
|
|
|
NM_014915.3(ANKRD26):c.710T>C (p.Val237Ala)
|
rs1372668588
|
|
|
NM_014915.3(ANKRD26):c.937G>T (p.Asp313Tyr)
|
rs61730102
|
|
|
NM_014946.4(SPAST):c.1250G>A (p.Gly417Glu)
|
rs1553318161
|
|
|
NM_014953.5(DIS3):c.2533A>G (p.Ile845Val)
|
|
|
|
NM_014994.3(MAPKBP1):c.1013A>G (p.Tyr338Cys)
|
|
|
|
NM_014994.3(MAPKBP1):c.2391_2392delinsTT (p.Pro798Ser)
|
|
|
|
NM_014994.3(MAPKBP1):c.2481+10C>T
|
|
|
|
NM_014994.3(MAPKBP1):c.3393G>A (p.Pro1131=)
|
|
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
|
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly)
|
rs797045068
|
|
|
NM_015080.4(NRXN2):c.1139G>A (p.Arg380Gln)
|
rs587780408
|
|
|
NM_015080.4(NRXN2):c.2537-8C>T
|
rs797045799
|
|
|
NM_015080.4(NRXN2):c.3851G>T (p.Arg1284Leu)
|
rs587780409
|
|
|
NM_015080.4(NRXN2):c.4046G>A (p.Ser1349Asn)
|
rs552728515
|
|
|
NM_015080.4(NRXN2):c.4519C>T (p.Pro1507Ser)
|
rs749398433
|
|
|
NM_015080.4(NRXN2):c.4622A>T (p.Asp1541Val)
|
rs797045801
|
|
|
NM_015080.4(NRXN2):c.749G>C (p.Gly250Ala)
|
rs2135588749
|
|
|
NM_015080.4(NRXN2):c.851-8G>A
|
rs371081453
|
|
|
NM_015100.4(POGZ):c.2604del (p.Asn869fs)
|
rs1553213126
|
|
|
NM_015107.3(PHF8):c.1586G>A (p.Ser529Asn)
|
rs587780415
|
|
|
NM_015107.3(PHF8):c.1865A>G (p.Asp622Gly)
|
rs2149831744
|
|
|
NM_015107.3(PHF8):c.214C>A (p.His72Asn)
|
rs797045886
|
|
|
NM_015107.3(PHF8):c.2790CTC[2] (p.Ser933del)
|
rs782660284
|
|
|
NM_015110.4(SMC5):c.58C>G (p.Leu20Val)
|
|
|
|
NM_015158.5(KANK1):c.3213dup (p.Cys1072fs)
|
rs1002937620
|
|
|
NM_015166.4(MLC1):c.639dup (p.Ile214fs)
|
rs1449444164
|
|
|
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter)
|
rs1553659758
|
|
|
NM_015175.3(NBEAL2):c.2103C>T (p.Asp701=)
|
rs377025153
|
|
|
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter)
|
rs1553663498
|
|
|
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[2] (p.Ala1656_Ala1658del)
|
rs535036383
|
|
|
NM_015175.3(NBEAL2):c.7748G>A (p.Arg2583His)
|
rs374312429
|
|
|
NM_015192.4(PLCB1):c.21A>C (p.Gly7=)
|
rs587780418
|
|
|
NM_015202.5(KATNIP):c.2908G>A (p.Val970Ile)
|
|
|
|
NM_015202.5(KATNIP):c.486G>C (p.Glu162Asp)
|
|
|
|
NM_015202.5(KATNIP):c.537G>C (p.Pro179=)
|
rs374427375
|
|
|
NM_015214.3(DDHD2):c.1154G>A (p.Gly385Glu)
|
rs1805760221
|
|
|
NM_015214.3(DDHD2):c.1924A>G (p.Lys642Glu)
|
rs77715495
|
|
|
NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr)
|
rs797045521
|
|
|
NM_015214.3(DDHD2):c.387G>C (p.Ser129=)
|
rs766794813
|
|
|
NM_015214.3(DDHD2):c.699C>T (p.Ser233=)
|
rs560050475
|
|
|
NM_015214.3(DDHD2):c.884G>A (p.Arg295His)
|
rs561561545
|
|
|
NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=)
|
rs12128526
|
|
|
NM_015272.5(RPGRIP1L):c.1104-2A>G
|
|
|
|
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)
|
rs797045918
|
|
|
NM_015272.5(RPGRIP1L):c.2483C>A (p.Ala828Asp)
|
rs755123128
|
|
|
NM_015272.5(RPGRIP1L):c.3295-8del
|
rs113083177
|
|
|
NM_015272.5(RPGRIP1L):c.3373G>T (p.Asp1125Tyr)
|
rs866468122
|
|
|
NM_015272.5(RPGRIP1L):c.3445A>G (p.Ile1149Val)
|
rs2150964841
|
|
|
NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn)
|
rs1445612197
|
|
|
NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter)
|
|
|
|
NM_015275.3(WASHC4):c.1742A>G (p.Gln581Arg)
|
rs1555236962
|
|
|
NM_015275.3(WASHC4):c.2132del (p.Phe711fs)
|
rs1236210910
|
|
|
NM_015275.3(WASHC4):c.2650-3T>G
|
rs773697401
|
|
|
NM_015275.3(WASHC4):c.2701_2703del (p.Val901del)
|
rs759197737
|
|
|
NM_015275.3(WASHC4):c.3088A>G (p.Ser1030Gly)
|
rs1555241837
|
|
|
NM_015275.3(WASHC4):c.368-3C>T
|
rs1188358494
|
|
|
NM_015330.6(SPECC1L):c.1401C>T (p.Arg467=)
|
|
|
|
NM_015335.5(MED13L):c.2013-29dup
|
rs542425590
|
|
|
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=)
|
rs7156492
|
|
|
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)
|
rs35018134
|
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
|
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter)
|
rs2140192948
|
|
|
NM_015378.4(VPS13D):c.3316C>T (p.Gln1106Ter)
|
rs1557680710
|
|
|
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp)
|
rs1557680919
|
|
|
NM_015421.4(TMEM186):c.3+130A>G
|
rs2141013716
|
|
|
NM_015421.4(TMEM186):c.3+20G>T
|
rs145394389
|
|
|
NM_015421.4(TMEM186):c.3+27G>A
|
rs113804940
|
|
|
NM_015450.3(POT1):c.1081C>T (p.Arg361Cys)
|
rs372317646
|
|
|
NM_015450.3(POT1):c.1139T>A (p.Leu380His)
|
rs2116467460
|
|
|
NM_015450.3(POT1):c.1164-7A>C
|
rs1554420177
|
|
|
NM_015450.3(POT1):c.1176A>C (p.Pro392=)
|
rs2116462173
|
|
|
NM_015450.3(POT1):c.119G>A (p.Gly40Glu)
|
rs2116629512
|
|
|
NM_015450.3(POT1):c.1211G>A (p.Gly404Asp)
|
rs35536751
|
|
|
NM_015450.3(POT1):c.1289A>C (p.Lys430Thr)
|
rs2116461480
|
|
|
NM_015450.3(POT1):c.1338G>T (p.Pro446=)
|
rs185651210
|
|
|
NM_015450.3(POT1):c.1481T>C (p.Ile494Thr)
|
rs774858551
|
|
|
NM_015450.3(POT1):c.1572G>A (p.Trp524Ter)
|
rs1794703569
|
|
|
NM_015450.3(POT1):c.1793-10_1793-8del
|
rs2116403812
|
|
|
NM_015450.3(POT1):c.314C>T (p.Thr105Met)
|
rs1554426994
|
|
|
NM_015450.3(POT1):c.437C>T (p.Pro146Leu)
|
rs1554426915
|
|
|
NM_015450.3(POT1):c.833T>C (p.Leu278Ser)
|
rs2116504491
|
|
|
NM_015450.3(POT1):c.9+1G>C
|
|
|
|
NM_015559.3(SETBP1):c.1821del (p.Ser608fs)
|
rs797045952
|
|
|
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)
|
rs267607042
|
|
|
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
|
rs267607040
|
|
|
NM_015559.3(SETBP1):c.2874G>T (p.Glu958Asp)
|
rs373201270
|
|
|
NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=)
|
rs8096662
|
|
|
NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=)
|
rs8096662
|
|
|
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu)
|
rs11082414
|
|
|
NM_015599.3(PGM3):c.1366-9T>C
|
|
|
|
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu)
|
rs73749732
|
|
|
NM_015631.6(TCTN3):c.144G>C (p.Gln48His)
|
rs371316947
|
|
|
NM_015631.6(TCTN3):c.770G>A (p.Arg257His)
|
rs758733887
|
|
|
NM_015634.4(KIFBP):c.196G>A (p.Gly66Ser)
|
rs2255607
|
|
|
NM_015634.4(KIFBP):c.556C>T (p.Arg186Cys)
|
rs200098813
|
|
|
NM_015634.4(KIFBP):c.562C>A (p.Leu188Ile)
|
rs771863463
|
|
|
NM_015634.4(KIFBP):c.925G>A (p.Glu309Lys)
|
rs76319365
|
|
|
NM_015662.3(IFT172):c.2710G>A (p.Asp904Asn)
|
rs1666450205
|
|
|
NM_015662.3(IFT172):c.4528_4533dup (p.Leu1510_Phe1511dup)
|
rs1553321803
|
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
|
NM_015836.4(WARS2):c.797del (p.Pro266fs)
|
rs746478253
|
|
|
NM_015910.7(WDPCP):c.1109T>G (p.Val370Gly)
|
|
|
|
NM_015910.7(WDPCP):c.1357G>A (p.Gly453Ser)
|
rs1553378249
|
|
|
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)
|
rs797045835
|
|
|
NM_015922.3(NSDHL):c.1114del (p.Val372fs)
|
rs587784222
|
|
|
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)
|
rs587784223
|
|
|
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)
|
rs587784224
|
|
|
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)
|
rs141571609
|
|
|
NM_015922.3(NSDHL):c.904T>C (p.Tyr302His)
|
rs782181497
|
|
|
NM_015922.3(NSDHL):c.904del (p.Tyr302fs)
|
rs587784225
|
|
|
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)
|
rs587784226
|
|
|
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu)
|
rs3204853
|
|
|
NM_016038.4(SBDS):c.120del (p.Ser41fs)
|
rs113993990
|
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
|
NM_016038.4(SBDS):c.624+1G>C
|
rs113993997
|
|
|
NM_016038.4(SBDS):c.671T>C (p.Ile224Thr)
|
rs543458458
|
|
|
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)
|
rs587780333
|
|
|
NM_016042.4(EXOSC3):c.118G>C (p.Glu40Gln)
|
rs372713035
|
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
|
NM_016058.5(TPRKB):c.455_456del (p.Ser152fs)
|
rs754976073
|
|
|
NM_016097.5(IER3IP1):c.-6A>G
|
rs2144443848
|
|
|
NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln)
|
rs149009126
|
|
|
NM_016111.4(TELO2):c.31_32delinsAA (p.Ala11Asn)
|
rs2142446269
|
|
|
NM_016120.4(RLIM):c.1373G>A (p.Ser458Asn)
|
rs1555997404
|
|
|
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)
|
rs753485165
|
|
|
NM_016180.5(SLC45A2):c.1109G>A (p.Gly370Glu)
|
rs143764115
|
|
|
NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs)
|
rs896495198
|
|
|
NM_016180.5(SLC45A2):c.1225G>A (p.Gly409Ser)
|
rs1554054057
|
|
|
NM_016180.5(SLC45A2):c.1368+1G>T
|
rs1294369944
|
|
|
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter)
|
rs562624441
|
|
|
NM_016180.5(SLC45A2):c.529_531del (p.Glu177del)
|
rs779024478
|
|
|
NM_016180.5(SLC45A2):c.86A>G (p.Lys29Arg)
|
rs199882086
|
|
|
NM_016180.5(SLC45A2):c.986del (p.Thr329fs)
|
rs387906317
|
|
|
NM_016219.5(MAN1B1):c.1566+3dup
|
rs1554758759
|
|
|
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile)
|
rs797045687
|
|
|
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)
|
rs797045688
|
|
|
NM_016219.5(MAN1B1):c.734A>G (p.His245Arg)
|
rs773597890
|
|
|
NM_016222.4(DDX41):c.1013G>A (p.Cys338Tyr)
|
rs148384288
|
|
|
NM_016222.4(DDX41):c.1016G>T (p.Arg339Leu)
|
rs774698335
|
|
|
NM_016222.4(DDX41):c.1105C>G (p.Arg369Gly)
|
rs747672157
|
|
|
NM_016222.4(DDX41):c.1108C>T (p.Gln370Ter)
|
rs2127436444
|
|
|
NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter)
|
rs144057590
|
|
|
NM_016222.4(DDX41):c.1142dup (p.Ile382fs)
|
rs1554111073
|
|
|
NM_016222.4(DDX41):c.1283T>C (p.Leu428Pro)
|
rs1761050435
|
|
|
NM_016222.4(DDX41):c.1285C>T (p.Gln429Ter)
|
rs2127436241
|
|
|
NM_016222.4(DDX41):c.1293A>C (p.Thr431=)
|
rs746693911
|
|
|
NM_016222.4(DDX41):c.1332C>T (p.Asp444=)
|
rs554494724
|
|
|
NM_016222.4(DDX41):c.1354del (p.Leu452fs)
|
|
|
|
NM_016222.4(DDX41):c.138+5G>A
|
rs187714514
|
|
|
NM_016222.4(DDX41):c.138+5G>T
|
rs187714514
|
|
|
NM_016222.4(DDX41):c.1394del (p.Gly465fs)
|
rs759501764
|
|
|
NM_016222.4(DDX41):c.1474dup (p.Ala492fs)
|
rs1188549864
|
|
|
NM_016222.4(DDX41):c.1496dup (p.Ala500fs)
|
rs753425379
|
|
|
NM_016222.4(DDX41):c.157C>G (p.Arg53Gly)
|
rs745421135
|
|
|
NM_016222.4(DDX41):c.1721del (p.Leu574fs)
|
rs2127435669
|
|
|
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs)
|
rs1554111683
|
|
|
NM_016222.4(DDX41):c.27+9G>A
|
rs765022870
|
|
|
NM_016222.4(DDX41):c.299-3C>T
|
rs758614565
|
|
|
NM_016222.4(DDX41):c.301C>T (p.Arg101Cys)
|
rs1761223083
|
|
|
NM_016222.4(DDX41):c.305_306del (p.Lys102fs)
|
rs760059747
|
|
|
NM_016222.4(DDX41):c.323del (p.Lys108fs)
|
rs1554111653
|
|
|
NM_016222.4(DDX41):c.434+1G>C
|
rs1170971274
|
|
|
NM_016222.4(DDX41):c.435-2_435-1delinsCA
|
rs869320762
|
|
|
NM_016222.4(DDX41):c.5A>C (p.Glu2Ala)
|
rs1399847240
|
|
|
NM_016222.4(DDX41):c.616C>G (p.Pro206Ala)
|
|
|
|
NM_016222.4(DDX41):c.681G>C (p.Thr227=)
|
rs765996540
|
|
|
NM_016222.4(DDX41):c.920T>C (p.Met307Thr)
|
|
|
|
NM_016222.4(DDX41):c.926C>T (p.Thr309Ile)
|
rs371035635
|
|
|
NM_016222.4(DDX41):c.959C>T (p.Thr320Ile)
|
rs2127436611
|
|
|
NM_016222.4(DDX41):c.986del (p.Gln329fs)
|
rs1291520734
|
|
|
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)
|
rs780170125
|
|
|
NM_016239.4(MYO15A):c.9303+1G>T
|
rs876657708
|
|
|
NM_016302.4(CRBN):c.286A>G (p.Thr96Ala)
|
rs797045481
|
|
|
NM_016302.4(CRBN):c.34C>T (p.His12Tyr)
|
rs797045482
|
|
|
NM_016302.4(CRBN):c.480T>C (p.Ile160=)
|
rs2126067673
|
|
|
NM_016302.4(CRBN):c.57_65del (p.Leu20_Pro22del)
|
rs1553563717
|
|
|
NM_016343.4(CENPF):c.2101A>C (p.Met701Leu)
|
rs3795524
|
|
|
NM_016343.4(CENPF):c.2206G>A (p.Glu736Lys)
|
rs1553288720
|
|
|
NM_016343.4(CENPF):c.7060C>G (p.His2354Asp)
|
rs2102567951
|
|
|
NM_016343.4(CENPF):c.945T>G (p.Phe315Leu)
|
rs1657523717
|
|
|
NM_016356.5(DCDC2):c.458C>G (p.Ala153Gly)
|
rs1759381127
|
|
|
NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del)
|
rs760375899
|
|
|
NM_016373.4(WWOX):c.1152C>G (p.Pro384=)
|
rs2051759603
|
|
|
NM_016373.4(WWOX):c.1178C>A (p.Thr393Lys)
|
rs139253468
|
|
|
NM_016373.4(WWOX):c.608C>G (p.Pro203Arg)
|
rs1405481740
|
|
|
NM_016373.4(WWOX):c.656G>C (p.Ser219Thr)
|
rs367599412
|
|
|
NM_016373.4(WWOX):c.876T>G (p.Ala292=)
|
rs74030232
|
|
|
NM_016373.4(WWOX):c.935C>T (p.Ser312Phe)
|
rs79399971
|
|
|
NM_016472.5(GSKIP):c.82A>T (p.Thr28Ser)
|
|
|
|
NM_016529.6(ATP8A2):c.1872G>T (p.Leu624Phe)
|
rs201822155
|
|
|
NM_016589.4(TIMMDC1):c.707G>T (p.Trp236Leu)
|
rs754090765
|
|
|
NM_016648.4(LARP7):c.802_1142+267del
|
rs1554011754
|
|
|
NM_016734.3(PAX5):c.1089G>A (p.Pro363=)
|
|
|
|
NM_016734.3(PAX5):c.1100-11G>A
|
rs149896434
|
|
|
NM_016734.3(PAX5):c.1161C>T (p.Ala387=)
|
rs1292058964
|
|
|
NM_016734.3(PAX5):c.605G>A (p.Gly202Asp)
|
rs1210320854
|
|
|
NM_016734.3(PAX5):c.780+10G>A
|
|
|
|
NM_016734.3(PAX5):c.819G>C (p.Gly273=)
|
rs1830348981
|
|
|
NM_016734.3(PAX5):c.957C>T (p.Val319=)
|
rs563606361
|
|
|
NM_016734.3(PAX5):c.961C>T (p.Pro321Ser)
|
rs543302698
|
|
|
NM_016955.4(SEPSECS):c.115-18dup
|
rs34423002
|
|
|
NM_016955.4(SEPSECS):c.1271C>A (p.Ser424Ter)
|
rs797045951
|
|
|
NM_017563.5(IL17RD):c.714C>T (p.His238=)
|
|
|
|
NM_017654.4(SAMD9):c.1154del (p.Asn385fs)
|
rs2116420546
|
|
|
NM_017654.4(SAMD9):c.172G>A (p.Gly58Ser)
|
rs1791634786
|
|
|
NM_017654.4(SAMD9):c.177_178insTATA (p.Thr60fs)
|
rs780394549
|
|
|
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)
|
rs375515095
|
|
|
NM_017654.4(SAMD9):c.1828A>G (p.Ser610Gly)
|
|
|
|
NM_017654.4(SAMD9):c.1853T>C (p.Ile618Thr)
|
rs2116418899
|
|
|
NM_017654.4(SAMD9):c.2150T>A (p.Met717Lys)
|
rs1791583016
|
|
|
NM_017654.4(SAMD9):c.2280T>G (p.Cys760Trp)
|
rs776683023
|
|
|
NM_017654.4(SAMD9):c.2373C>G (p.Tyr791Ter)
|
rs189020649
|
|
|
NM_017654.4(SAMD9):c.2441T>C (p.Ile814Thr)
|
rs2116417471
|
|
|
NM_017654.4(SAMD9):c.2505T>C (p.Cys835=)
|
|
|
|
NM_017654.4(SAMD9):c.3100_3102delinsTTT (p.Leu1034Phe)
|
|
|
|
NM_017654.4(SAMD9):c.3102C>G (p.Leu1034=)
|
rs562001146
|
|
|
NM_017654.4(SAMD9):c.3117C>A (p.His1039Gln)
|
rs773592900
|
|
|
NM_017654.4(SAMD9):c.3118C>G (p.Arg1040Gly)
|
rs201576502
|
|
|
NM_017654.4(SAMD9):c.3357C>T (p.Ile1119=)
|
rs2116415124
|
|
|
NM_017654.4(SAMD9):c.3365C>T (p.Thr1122Ile)
|
rs754414260
|
|
|
NM_017654.4(SAMD9):c.3445C>G (p.Leu1149Val)
|
rs2116414917
|
|
|
NM_017654.4(SAMD9):c.3610G>T (p.Gly1204Trp)
|
rs2116414400
|
|
|
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)
|
rs199887936
|
|
|
NM_017654.4(SAMD9):c.3684G>C (p.Met1228Ile)
|
rs1374393583
|
|
|
NM_017654.4(SAMD9):c.3702A>C (p.Gly1234=)
|
|
|
|
NM_017654.4(SAMD9):c.3744A>T (p.Leu1248Phe)
|
rs2116413889
|
|
|
NM_017654.4(SAMD9):c.3774T>G (p.Thr1258=)
|
rs1791546103
|
|
|
NM_017654.4(SAMD9):c.3813del (p.Phe1271fs)
|
rs748414027
|
|
|
NM_017654.4(SAMD9):c.4094T>G (p.Ile1365Arg)
|
|
|
|
NM_017654.4(SAMD9):c.4224T>C (p.Val1408=)
|
rs2116412666
|
|
|
NM_017654.4(SAMD9):c.4378C>T (p.Leu1460=)
|
rs1366768986
|
|
|
NM_017654.4(SAMD9):c.822_823delinsTT (p.His275Tyr)
|
rs2116421515
|
|
|
NM_017654.4(SAMD9):c.837_846del (p.Gln279fs)
|
rs1562775994
|
|
|
NM_017654.4(SAMD9):c.868G>A (p.Val290Met)
|
rs139583166
|
|
|
NM_017668.3(NDE1):c.117C>T (p.Phe39=)
|
rs797045732
|
|
|
NM_017668.3(NDE1):c.386+41C>G
|
rs62036933
|
|
|
NM_017668.3(NDE1):c.623C>T (p.Ala208Val)
|
rs587783867
|
|
|
NM_017668.3(NDE1):c.627G>C (p.Thr209=)
|
rs768268553
|
|
|
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter)
|
rs576928842
|
|
|
NM_017668.3(NDE1):c.701G>A (p.Arg234His)
|
rs138255766
|
|
|
NM_017668.3(NDE1):c.726G>A (p.Gly242=)
|
rs587783869
|
|
|
NM_017668.3(NDE1):c.83+1G>T
|
rs1456594953
|
|
|
NM_017696.3(MCM9):c.1742G>A (p.Arg581His)
|
|
|
|
NM_017696.3(MCM9):c.304+1G>A
|
|
|
|
NM_017721.5(CC2D1A):c.1001C>T (p.Thr334Met)
|
rs756554308
|
|
|
NM_017721.5(CC2D1A):c.1561A>G (p.Lys521Glu)
|
rs797045435
|
|
|
NM_017721.5(CC2D1A):c.2073+7G>A
|
rs539992718
|
|
|
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)
|
rs77389229
|
|
|
NM_017721.5(CC2D1A):c.250C>T (p.Pro84Ser)
|
rs797045436
|
|
|
NM_017721.5(CC2D1A):c.464_484dup (p.Arg155_Ala161dup)
|
rs771412521
|
|
|
NM_017721.5(CC2D1A):c.513+6_513+12del
|
rs541952457
|
|
|
NM_017721.5(CC2D1A):c.531C>T (p.Leu177=)
|
rs372771537
|
|
|
NM_017721.5(CC2D1A):c.657G>C (p.Ala219=)
|
rs367628101
|
|
|
NM_017721.5(CC2D1A):c.696T>G (p.Ser232=)
|
rs534160840
|
|
|
NM_017721.5(CC2D1A):c.946+6A>G
|
rs1555733804
|
|
|
NM_017739.4(POMGNT1):c.1413+1G>C
|
rs587777821
|
|
|
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly)
|
rs534543454
|
|
|
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)
|
rs141421141
|
|
|
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His)
|
rs886043030
|
|
|
NM_017755.6(NSUN2):c.1450A>G (p.Ile484Val)
|
rs899944658
|
|
|
NM_017755.6(NSUN2):c.1946C>T (p.Ala649Val)
|
rs1351714861
|
|
|
NM_017755.6(NSUN2):c.1998-8A>G
|
rs797045836
|
|
|
NM_017755.6(NSUN2):c.2022C>T (p.Pro674=)
|
rs797045837
|
|
|
NM_017755.6(NSUN2):c.2218G>A (p.Glu740Lys)
|
rs1368308800
|
|
|
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln)
|
rs61744358
|
|
|
NM_017755.6(NSUN2):c.360-7_360-5delinsCGC
|
rs2126504490
|
|
|
NM_017755.6(NSUN2):c.97-10C>T
|
rs199959678
|
|
|
NM_017757.3(ZNF407):c.1448G>C (p.Cys483Ser)
|
rs776451413
|
|
|
NM_017757.3(ZNF407):c.2021C>T (p.Ser674Phe)
|
rs1555670651
|
|
|
NM_017757.3(ZNF407):c.2235C>T (p.Ser745=)
|
rs797046126
|
|
|
NM_017757.3(ZNF407):c.4507T>C (p.Leu1503=)
|
rs12327359
|
|
|
NM_017757.3(ZNF407):c.4653G>A (p.Ser1551=)
|
rs774684426
|
|
|
NM_017757.3(ZNF407):c.4662C>T (p.Phe1554=)
|
rs797046128
|
|
|
NM_017757.3(ZNF407):c.4795G>A (p.Val1599Ile)
|
rs2144688984
|
|
|
NM_017757.3(ZNF407):c.5085C>G (p.Gly1695=)
|
rs34940122
|
|
|
NM_017757.3(ZNF407):c.5334T>C (p.Cys1778=)
|
rs772099571
|
|
|
NM_017757.3(ZNF407):c.5863G>A (p.Glu1955Lys)
|
rs777049090
|
|
|
NM_017757.3(ZNF407):c.615T>C (p.Ala205=)
|
rs1305024488
|
|
|
NM_017757.3(ZNF407):c.6734T>C (p.Leu2245Pro)
|
rs370159868
|
|
|
NM_017757.3(ZNF407):c.94G>T (p.Asp32Tyr)
|
rs754424061
|
|
|
NM_017763.6(RNF43):c.576G>A (p.Pro192=)
|
rs76384648
|
|
|
NM_017775.4(TTC19):c.478A>C (p.Lys160Gln)
|
rs797046058
|
|
|
NM_017775.4(TTC19):c.817G>T (p.Glu273Ter)
|
rs1555530551
|
|
|
NM_017777.4(MKS1):c.1158A>G (p.Glu386=)
|
rs797045705
|
|
|
NM_017777.4(MKS1):c.1204C>T (p.Leu402Phe)
|
rs1555597681
|
|
|
NM_017777.4(MKS1):c.1408-1dup
|
rs762668200
|
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
|
NM_017777.4(MKS1):c.902C>G (p.Thr301Ser)
|
rs1555599203
|
|
|
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter)
|
rs587783428
|
|
|
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)
|
rs587783429
|
|
|
NM_017780.4(CHD7):c.1678dup (p.Glu560fs)
|
rs797045461
|
|
|
NM_017780.4(CHD7):c.191_194del (p.Thr64fs)
|
rs587783431
|
|
|
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu)
|
rs370588681
|
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
|
NM_017780.4(CHD7):c.2377-3dup
|
rs752271550
|
|
|
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs)
|
rs797045463
|
|
|
NM_017780.4(CHD7):c.2613+1G>A
|
rs587783432
|
|
|
NM_017780.4(CHD7):c.2614-14del
|
rs748282026
|
|
|
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter)
|
rs797045465
|
|
|
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter)
|
rs587783433
|
|
|
NM_017780.4(CHD7):c.2722T>C (p.Trp908Arg)
|
rs1554597380
|
|
|
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter)
|
rs587783434
|
|
|
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser)
|
rs587783435
|
|
|
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs)
|
rs587783436
|
|
|
NM_017780.4(CHD7):c.3201+3A>T
|
rs587783437
|
|
|
NM_017780.4(CHD7):c.3201+5del
|
rs797045466
|
|
|
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)
|
rs886040985
|
|
|
NM_017780.4(CHD7):c.3408A>G (p.Pro1136=)
|
rs587783438
|
|
|
NM_017780.4(CHD7):c.3566G>A (p.Arg1189His)
|
rs1554599432
|
|
|
NM_017780.4(CHD7):c.3656G>A (p.Arg1219Gln)
|
rs888026080
|
|
|
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter)
|
rs587783440
|
|
|
NM_017780.4(CHD7):c.4353+3A>G
|
rs587783441
|
|
|
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)
|
rs587783442
|
|
|
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer)
|
rs587783443
|
|
|
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu)
|
rs587783444
|
|
|
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=)
|
rs1164615393
|
|
|
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter)
|
rs797045467
|
|
|
NM_017780.4(CHD7):c.5051-4C>A
|
rs71640288
|
|
|
NM_017780.4(CHD7):c.528dup (p.Pro177fs)
|
rs797045468
|
|
|
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys)
|
rs587783445
|
|
|
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter)
|
rs587783446
|
|
|
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter)
|
rs587783447
|
|
|
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs)
|
rs797045469
|
|
|
NM_017780.4(CHD7):c.5666-2A>C
|
rs587783448
|
|
|
NM_017780.4(CHD7):c.5731A>G (p.Thr1911Ala)
|
rs2150807642
|
|
|
NM_017780.4(CHD7):c.5734C>G (p.Arg1912Gly)
|
rs2150807646
|
|
|
NM_017780.4(CHD7):c.6102_6103dup (p.Glu2035fs)
|
rs2150809140
|
|
|
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter)
|
rs587783450
|
|
|
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg)
|
rs587783451
|
|
|
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly)
|
rs587783452
|
|
|
NM_017780.4(CHD7):c.6446del (p.Gly2149fs)
|
rs797045470
|
|
|
NM_017780.4(CHD7):c.6526del (p.Glu2176fs)
|
rs797045471
|
|
|
NM_017780.4(CHD7):c.6825dup (p.Met2276fs)
|
rs797045472
|
|
|
NM_017780.4(CHD7):c.6843T>G (p.Asp2281Glu)
|
rs587783453
|
|
|
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter)
|
rs587783454
|
|
|
NM_017780.4(CHD7):c.7200GAG[4] (p.Arg2405del)
|
rs374380640
|
|
|
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)
|
rs587783455
|
|
|
NM_017780.4(CHD7):c.7294G>T (p.Val2432Leu)
|
rs372078650
|
|
|
NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs)
|
rs587783456
|
|
|
NM_017780.4(CHD7):c.7603A>C (p.Ser2535Arg)
|
rs1554605162
|
|
|
NM_017780.4(CHD7):c.760C>G (p.Gln254Glu)
|
rs1554581354
|
|
|
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)
|
rs587783457
|
|
|
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs)
|
rs797045473
|
|
|
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)
|
rs587783458
|
|
|
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter)
|
rs587783459
|
|
|
NM_017780.4(CHD7):c.8118G>A (p.Gly2706=)
|
rs952299853
|
|
|
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs)
|
rs771806027
|
|
|
NM_017838.4(NHP2):c.160+10A>T
|
rs376220034
|
|
|
NM_017838.4(NHP2):c.160+11C>T
|
rs201274409
|
|
|
NM_017841.4(SDHAF2):c.298A>G (p.Lys100Glu)
|
rs2134892837
|
|
|
NM_017849.4(TMEM127):c.144C>T (p.Leu48=)
|
rs1684391372
|
|
|
NM_017849.4(TMEM127):c.598C>T (p.Pro200Ser)
|
rs200351681
|
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
|
NM_017934.7(PHIP):c.51C>T (p.Phe17=)
|
rs778180694
|
|
|
NM_017951.5(SMPD4):c.1758A>G (p.Ser586=)
|
|
|
|
NM_018013.4(SOBP):c.1888CCCCCGGGC[3] (p.630PPG[3])
|
rs746750430
|
|
|
NM_018013.4(SOBP):c.1905C>T (p.Gly635=)
|
rs587780465
|
|
|
NM_018013.4(SOBP):c.1937T>A (p.Leu646Gln)
|
rs1554190816
|
|
|
NM_018013.4(SOBP):c.1970C>G (p.Thr657Ser)
|
rs1554190839
|
|
|
NM_018013.4(SOBP):c.2105C>T (p.Ala702Val)
|
rs1554190937
|
|
|
NM_018013.4(SOBP):c.2232GCC[4] (p.Pro749_Pro751del)
|
rs541688197
|
|
|
NM_018013.4(SOBP):c.2232GCC[6] (p.Pro751del)
|
rs541688197
|
|
|
NM_018013.4(SOBP):c.2232GCC[8] (p.Pro751dup)
|
rs541688197
|
|
|
NM_018013.4(SOBP):c.2232GCC[9] (p.Pro750_Pro751dup)
|
rs541688197
|
|
|
NM_018013.4(SOBP):c.2560C>G (p.Pro854Ala)
|
rs745943268
|
|
|
NM_018013.4(SOBP):c.413C>T (p.Pro138Leu)
|
rs1554288908
|
|
|
NM_018013.4(SOBP):c.414A>G (p.Pro138=)
|
rs1167539083
|
|
|
NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup)
|
rs756417166
|
|
|
NM_018026.4(PACS1):c.1375-4G>A
|
rs766187894
|
|
|
NM_018026.4(PACS1):c.162C>G (p.Thr54=)
|
rs1209337870
|
|
|
NM_018026.4(PACS1):c.1927G>T (p.Val643Phe)
|
rs1554993495
|
|
|
NM_018026.4(PACS1):c.206C>T (p.Ser69Phe)
|
rs1055692690
|
|
|
NM_018026.4(PACS1):c.460C>A (p.Leu154Ile)
|
rs2134698831
|
|
|
NM_018026.4(PACS1):c.537C>T (p.Tyr179=)
|
rs1477334036
|
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
|
NM_018026.4(PACS1):c.897+9C>G
|
rs184374266
|
|
|
NM_018026.4(PACS1):c.941C>T (p.Thr314Ile)
|
rs1554990856
|
|
|
NM_018026.4(PACS1):c.95CGC[4] (p.Pro34dup)
|
rs1176211628
|
|
|
NM_018036.7(ATG2B):c.3210+8T>C
|
rs2139865288
|
|
|
NM_018036.7(ATG2B):c.3782C>T (p.Thr1261Ile)
|
|
|
|
NM_018036.7(ATG2B):c.3849C>T (p.Ile1283=)
|
rs2139859785
|
|
|
NM_018036.7(ATG2B):c.3913+6A>T
|
|
|
|
NM_018036.7(ATG2B):c.4362_4363delinsGT (p.Phe1454_Pro1455delinsLeuSer)
|
rs2139852075
|
|
|
NM_018036.7(ATG2B):c.4368C>T (p.Asp1456=)
|
rs146800472
|
|
|
NM_018036.7(ATG2B):c.4600A>T (p.Thr1534Ser)
|
rs72704878
|
|
|
NM_018036.7(ATG2B):c.4766C>A (p.Thr1589Lys)
|
rs145906587
|
|
|
NM_018036.7(ATG2B):c.5805G>A (p.Ser1935=)
|
|
|
|
NM_018036.7(ATG2B):c.714A>G (p.Lys238=)
|
|
|
|
NM_018051.5(DYNC2I1):c.1162del (p.Cys388fs)
|
rs1554460624
|
|
|
NM_018062.4(FANCL):c.1096A>T (p.Ile366Phe)
|
|
|
|
NM_018062.4(FANCL):c.110A>T (p.His37Leu)
|
rs1693641687
|
|
|
NM_018062.4(FANCL):c.235G>A (p.Asp79Asn)
|
rs1553456024
|
|
|
NM_018062.4(FANCL):c.35G>A (p.Cys12Tyr)
|
rs2104082854
|
|
|
NM_018062.4(FANCL):c.5C>T (p.Ala2Val)
|
rs551142193
|
|
|
NM_018062.4(FANCL):c.712A>G (p.Ile238Val)
|
rs776189946
|
|
|
NM_018062.4(FANCL):c.824A>T (p.Asp275Val)
|
rs1685423554
|
|
|
NM_018062.4(FANCL):c.913A>G (p.Met305Val)
|
rs553742734
|
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
|
NM_018075.5(ANO10):c.140G>T (p.Gly47Val)
|
rs2082297211
|
|
|
NM_018075.5(ANO10):c.1669-2A>T
|
rs797045240
|
|
|
NM_018075.5(ANO10):c.1798-12_1798-9del
|
rs545954936
|
|
|
NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter)
|
rs1210764379
|
|
|
NM_018075.5(ANO10):c.96del (p.Glu33fs)
|
rs758937084
|
|
|
NM_018082.6(POLR3B):c.1612_1614del (p.Leu538del)
|
rs797045895
|
|
|
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)
|
rs3804506
|
|
|
NM_018105.3(THAP1):c.77C>T (p.Pro26Leu)
|
rs1802674870
|
|
|
NM_018116.4(MSTO1):c.766C>G (p.Arg256Gly)
|
rs367885512
|
|
|
NM_018116.4(MSTO1):c.862G>A (p.Val288Met)
|
|
|
|
NM_018116.4(MSTO1):c.884C>T (p.Ser295Phe)
|
rs759414031
|
|
|
NM_018117.12(WDR11):c.76G>A (p.Ala26Thr)
|
rs2133715854
|
|
|
NM_018129.4(PNPO):c.119G>A (p.Ser40Asn)
|
rs797045893
|
|
|
NM_018136.5(ASPM):c.10100G>A (p.Ser3367Asn)
|
rs587783208
|
|
|
NM_018136.5(ASPM):c.10161+13_10161+16del
|
rs797045308
|
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
|
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)
|
rs199422137
|
|
|
NM_018136.5(ASPM):c.117_118del (p.Leu41fs)
|
rs587783216
|
|
|
NM_018136.5(ASPM):c.1192A>G (p.Lys398Glu)
|
rs797045309
|
|
|
NM_018136.5(ASPM):c.1201A>G (p.Met401Val)
|
rs587783217
|
|
|
NM_018136.5(ASPM):c.1495A>G (p.Lys499Glu)
|
rs587783219
|
|
|
NM_018136.5(ASPM):c.1531G>C (p.Glu511Gln)
|
rs1553227712
|
|
|
NM_018136.5(ASPM):c.1726_1729del (p.Lys576fs)
|
rs587783221
|
|
|
NM_018136.5(ASPM):c.1798_1801del (p.Lys600fs)
|
rs1553227645
|
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
|
NM_018136.5(ASPM):c.2724T>C (p.His908=)
|
rs587783226
|
|
|
NM_018136.5(ASPM):c.2936dup (p.Arg980fs)
|
rs797045311
|
|
|
NM_018136.5(ASPM):c.2968del (p.Asp990fs)
|
rs587783228
|
|
|
NM_018136.5(ASPM):c.297+1G>C
|
rs1553228275
|
|
|
NM_018136.5(ASPM):c.301A>G (p.Lys101Glu)
|
rs549294276
|
|
|
NM_018136.5(ASPM):c.3089C>A (p.Thr1030Lys)
|
rs1571616712
|
|
|
NM_018136.5(ASPM):c.3100A>G (p.Lys1034Glu)
|
rs797045312
|
|
|
NM_018136.5(ASPM):c.3327T>G (p.Tyr1109Ter)
|
rs587783230
|
|
|
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu)
|
rs1057523743
|
|
|
NM_018136.5(ASPM):c.3390+3_3390+6del
|
rs797045313
|
|
|
NM_018136.5(ASPM):c.3506_3507del (p.Val1169fs)
|
rs769818500
|
|
|
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe)
|
rs143805893
|
|
|
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter)
|
rs199422159
|
|
|
NM_018136.5(ASPM):c.3714T>C (p.Asp1238=)
|
rs587783233
|
|
|
NM_018136.5(ASPM):c.3742-3dup
|
rs587783236
|
|
|
NM_018136.5(ASPM):c.3830G>A (p.Trp1277Ter)
|
rs587783238
|
|
|
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)
|
rs587783239
|
|
|
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs)
|
rs587783240
|
|
|
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)
|
rs587783241
|
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
|
NM_018136.5(ASPM):c.4381C>T (p.Gln1461Ter)
|
rs2125096695
|
|
|
NM_018136.5(ASPM):c.4562A>G (p.Tyr1521Cys)
|
rs768384827
|
|
|
NM_018136.5(ASPM):c.4592G>A (p.Arg1531His)
|
rs200681905
|
|
|
NM_018136.5(ASPM):c.4630T>G (p.Leu1544Val)
|
rs1274664037
|
|
|
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs)
|
rs587783245
|
|
|
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter)
|
rs199422165
|
|
|
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter)
|
rs587783247
|
|
|
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter)
|
rs587783248
|
|
|
NM_018136.5(ASPM):c.5292G>A (p.Met1764Ile)
|
rs587783249
|
|
|
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs)
|
rs1403868262
|
|
|
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter)
|
rs797045314
|
|
|
NM_018136.5(ASPM):c.5582A>G (p.Tyr1861Cys)
|
rs587783250
|
|
|
NM_018136.5(ASPM):c.5629G>T (p.Ala1877Ser)
|
rs112230218
|
|
|
NM_018136.5(ASPM):c.562G>C (p.Val188Leu)
|
rs587783251
|
|
|
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter)
|
rs199422134
|
|
|
NM_018136.5(ASPM):c.606A>G (p.Glu202=)
|
rs587783254
|
|
|
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter)
|
rs1553223496
|
|
|
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter)
|
rs137852997
|
|
|
NM_018136.5(ASPM):c.6241A>G (p.Lys2081Glu)
|
rs587783256
|
|
|
NM_018136.5(ASPM):c.6334C>T (p.His2112Tyr)
|
rs587783257
|
|
|
NM_018136.5(ASPM):c.637del (p.Ile213fs)
|
rs587783258
|
|
|
NM_018136.5(ASPM):c.6852_6855del (p.Leu2285fs)
|
rs587783259
|
|
|
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)
|
rs587783263
|
|
|
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)
|
rs587783265
|
|
|
NM_018136.5(ASPM):c.7308dup (p.Val2437fs)
|
rs797045315
|
|
|
NM_018136.5(ASPM):c.7576A>G (p.Asn2526Asp)
|
rs587783267
|
|
|
NM_018136.5(ASPM):c.7612C>T (p.Gln2538Ter)
|
rs587783268
|
|
|
NM_018136.5(ASPM):c.7665del (p.Ala2556fs)
|
rs587783269
|
|
|
NM_018136.5(ASPM):c.7674C>A (p.Ile2558=)
|
rs41308365
|
|
|
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=)
|
rs41308365
|
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
|
NM_018136.5(ASPM):c.7817C>A (p.Thr2606Asn)
|
rs587783271
|
|
|
NM_018136.5(ASPM):c.7825C>T (p.Gln2609Ter)
|
rs587783272
|
|
|
NM_018136.5(ASPM):c.7857dup (p.Gln2620fs)
|
rs797045316
|
|
|
NM_018136.5(ASPM):c.8034C>A (p.Gly2678=)
|
rs587783276
|
|
|
NM_018136.5(ASPM):c.803_804del (p.Lys268fs)
|
rs587783277
|
|
|
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs)
|
rs587783278
|
|
|
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)
|
rs763909256
|
|
|
NM_018136.5(ASPM):c.8291A>G (p.Glu2764Gly)
|
rs587783279
|
|
|
NM_018136.5(ASPM):c.8475T>C (p.Phe2825=)
|
rs1553327529
|
|
|
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)
|
rs587783280
|
|
|
NM_018136.5(ASPM):c.8704C>T (p.Gln2902Ter)
|
rs587783282
|
|
|
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter)
|
rs587783285
|
|
|
NM_018136.5(ASPM):c.8987+39TG[2]
|
rs200804798
|
|
|
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter)
|
rs587783287
|
|
|
NM_018136.5(ASPM):c.9104T>A (p.Leu3035Ter)
|
rs587783288
|
|
|
NM_018136.5(ASPM):c.9309_9310del (p.Arg3103fs)
|
rs587783289
|
|
|
NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro)
|
rs36004306
|
|
|
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg)
|
rs36004306
|
|
|
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter)
|
rs199422189
|
|
|
NM_018136.5(ASPM):c.9662G>A (p.Arg3221Lys)
|
rs587783293
|
|
|
NM_018136.5(ASPM):c.9682A>G (p.Lys3228Glu)
|
rs1553326052
|
|
|
NM_018249.6(CDK5RAP2):c.1018del (p.Glu340fs)
|
rs797045441
|
|
|
NM_018249.6(CDK5RAP2):c.1183C>T (p.His395Tyr)
|
rs587783380
|
|
|
NM_018249.6(CDK5RAP2):c.1312-27T>G
|
rs587783381
|
|
|
NM_018249.6(CDK5RAP2):c.1761T>A (p.Ile587=)
|
rs1554755926
|
|
|
NM_018249.6(CDK5RAP2):c.1906T>G (p.Cys636Gly)
|
rs797045442
|
|
|
NM_018249.6(CDK5RAP2):c.284C>A (p.Pro95His)
|
rs569172233
|
|
|
NM_018249.6(CDK5RAP2):c.2852T>G (p.Met951Arg)
|
rs143361777
|
|
|
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr)
|
rs3780679
|
|
|
NM_018249.6(CDK5RAP2):c.3258T>C (p.Ser1086=)
|
rs587783384
|
|
|
NM_018249.6(CDK5RAP2):c.3285G>C (p.Met1095Ile)
|
rs587783385
|
|
|
NM_018249.6(CDK5RAP2):c.3940A>G (p.Lys1314Glu)
|
rs2131314540
|
|
|
NM_018249.6(CDK5RAP2):c.4055A>G (p.Glu1352Gly)
|
rs587783388
|
|
|
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter)
|
rs754282058
|
|
|
NM_018249.6(CDK5RAP2):c.4445A>T (p.Glu1482Val)
|
rs587783391
|
|
|
NM_018249.6(CDK5RAP2):c.4594_4595delinsAT (p.Glu1532Met)
|
|
|
|
NM_018249.6(CDK5RAP2):c.533T>C (p.Leu178Pro)
|
rs587783394
|
|
|
NM_018249.6(CDK5RAP2):c.5359A>C (p.Lys1787Gln)
|
rs587783395
|
|
|
NM_018249.6(CDK5RAP2):c.5448G>A (p.Glu1816=)
|
rs587783396
|
|
|
NM_018249.6(CDK5RAP2):c.547G>C (p.Ala183Pro)
|
rs13287734
|
|
|
NM_018249.6(CDK5RAP2):c.66T>C (p.Leu22=)
|
rs797045443
|
|
|
NM_018249.6(CDK5RAP2):c.879+26G>T
|
rs41305509
|
|
|
NM_018341.3(ERMARD):c.189_199del (p.Asp63fs)
|
rs1428587956
|
|
|
NM_018341.3(ERMARD):c.897G>A (p.Glu299=)
|
rs2128348267
|
|
|
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)
|
rs779151199
|
|
|
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter)
|
rs797045447
|
|
|
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs)
|
rs777893196
|
|
|
NM_018451.5(CENPJ):c.1704GGAAAA[1] (p.568KE[1])
|
rs1555297807
|
|
|
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs)
|
rs797045448
|
|
|
NM_018451.5(CENPJ):c.1882del (p.Ala628fs)
|
rs797045449
|
|
|
NM_018451.5(CENPJ):c.1908C>G (p.Arg636=)
|
rs61743613
|
|
|
NM_018451.5(CENPJ):c.2210A>G (p.Asp737Gly)
|
rs587783408
|
|
|
NM_018451.5(CENPJ):c.2826-9T>G
|
rs797045451
|
|
|
NM_018451.5(CENPJ):c.2992-17dup
|
rs35599563
|
|
|
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs)
|
rs797045452
|
|
|
NM_018451.5(CENPJ):c.3302-15A>G
|
rs797045453
|
|
|
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup)
|
rs776528706
|
|
|
NM_018451.5(CENPJ):c.3704-14_3704-12del
|
rs34991318
|
|
|
NM_018451.5(CENPJ):c.569-7T>C
|
rs1555298596
|
|
|
NM_018451.5(CENPJ):c.61A>G (p.Met21Val)
|
rs35498994
|
|
|
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu)
|
rs35498994
|
|
|
NM_018451.5(CENPJ):c.777_786delinsC (p.Ser260_Asn262del)
|
rs1555298479
|
|
|
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs)
|
rs797045454
|
|
|
NM_018451.5(CENPJ):c.993T>C (p.Ile331=)
|
rs569778066
|
|
|
NM_018486.3(HDAC8):c.-5G>T
|
rs587783662
|
|
|
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer)
|
rs587783663
|
|
|
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs)
|
rs797045610
|
|
|
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter)
|
rs797045611
|
|
|
NM_018486.3(HDAC8):c.24G>A (p.Ala8=)
|
rs61736843
|
|
|
NM_018486.3(HDAC8):c.421_423del (p.Trp141del)
|
rs587783664
|
|
|
NM_018486.3(HDAC8):c.437+9del
|
|
|
|
NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys)
|
rs797045612
|
|
|
NM_018486.3(HDAC8):c.628+5G>C
|
rs1556009188
|
|
|
NM_018486.3(HDAC8):c.770C>A (p.Pro257His)
|
rs797045613
|
|
|
NM_018486.3(HDAC8):c.862C>T (p.Leu288Phe)
|
rs2047963148
|
|
|
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter)
|
rs751858602
|
|
|
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)
|
rs755221106
|
|
|
NM_018975.4(TERF2IP):c.175C>T (p.Pro59Ser)
|
|
|
|
NM_018993.4(RIN2):c.1337G>A (p.Arg446Gln)
|
rs1172506359
|
|
|
NM_018993.4(RIN2):c.923C>A (p.Pro308Gln)
|
rs374058245
|
|
|
NM_019023.5(PRMT7):c.1951TTC[1] (p.Phe652del)
|
rs562766169
|
|
|
NM_019066.5(MAGEL2):c.2989G>A (p.Ala997Thr)
|
rs558186319
|
|
|
NM_019066.5(MAGEL2):c.37_38insAC (p.Pro13fs)
|
rs1250752332
|
|
|
NM_019066.5(MAGEL2):c.474_503del (p.160AHPPPPGTPM[1])
|
rs754729041
|
|
|
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del)
|
rs779748148
|
|
|
NM_019066.5(MAGEL2):c.579C>A (p.Pro193=)
|
rs113984257
|
|
|
NM_019066.5(MAGEL2):c.81G>C (p.Thr27=)
|
rs1055791590
|
|
|
NM_019066.5(MAGEL2):c.822A>T (p.Ser274=)
|
rs1555374395
|
|
|
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1])
|
rs528108868
|
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG
|
rs71269007
|
|
|
NM_019892.6(INPP5E):c.1521C>T (p.His507=)
|
rs10870188
|
|
|
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)
|
rs10870182
|
|
|
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)
|
rs10870182
|
|
|
NM_019892.6(INPP5E):c.1857_1858del (p.Arg620fs)
|
rs1554792421
|
|
|
NM_020066.5(FMN2):c.1030G>A (p.Asp344Asn)
|
rs559793960
|
|
|
NM_020066.5(FMN2):c.1808C>T (p.Ala603Val)
|
rs1231192657
|
|
|
NM_020066.5(FMN2):c.1978G>C (p.Val660Leu)
|
rs753798486
|
|
|
NM_020066.5(FMN2):c.371C>T (p.Ser124Leu)
|
rs1283481751
|
|
|
NM_020066.5(FMN2):c.4065+7A>G
|
rs749567608
|
|
|
NM_020066.5(FMN2):c.659AGC[7] (p.Gln225dup)
|
rs532298569
|
|
|
NM_020066.5(FMN2):c.916A>G (p.Ser306Gly)
|
rs1553322489
|
|
|
NM_020184.4(CNNM4):c.1555C>T (p.Arg519Ter)
|
rs1455470131
|
|
|
NM_020207.7(ERCC6L2):c.2100+13_2100+15del
|
|
|
|
NM_020207.7(ERCC6L2):c.2376G>T (p.Gln792His)
|
|
|
|
NM_020207.7(ERCC6L2):c.2491_2492delinsTT (p.Ala831Phe)
|
rs2133079357
|
|
|
NM_020207.7(ERCC6L2):c.258T>A (p.Asp86Glu)
|
rs2132513580
|
|
|
NM_020207.7(ERCC6L2):c.4128C>A (p.Ser1376=)
|
rs146904029
|
|
|
NM_020207.7(ERCC6L2):c.4540A>G (p.Arg1514Gly)
|
rs1018726740
|
|
|
NM_020207.7(ERCC6L2):c.4607C>T (p.Pro1536Leu)
|
rs2133228736
|
|
|
NM_020207.7(ERCC6L2):c.713G>A (p.Arg238His)
|
rs142906169
|
|
|
NM_020207.7(ERCC6L2):c.8C>A (p.Pro3Gln)
|
rs151308487
|
|
|
NM_020227.4(PRDM9):c.1706T>A (p.Ile569Asn)
|
rs772744700
|
|
|
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln)
|
rs763311061
|
|
|
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs)
|
rs797045217
|
|
|
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=)
|
rs12593
|
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
|
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg)
|
rs61995958
|
|
|
NM_020297.4(ABCC9):c.881G>A (p.Gly294Glu)
|
rs1555115054
|
|
|
NM_020320.5(RARS2):c.-2A>G
|
rs201150141
|
|
|
NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs)
|
rs756696262
|
|
|
NM_020320.5(RARS2):c.1246G>T (p.Glu416Ter)
|
rs143076225
|
|
|
NM_020320.5(RARS2):c.1438G>A (p.Gly480Arg)
|
rs769853119
|
|
|
NM_020320.5(RARS2):c.1A>T (p.Met1Leu)
|
rs774923951
|
|
|
NM_020320.5(RARS2):c.370del (p.Gln124fs)
|
rs1554203400
|
|
|
NM_020320.5(RARS2):c.726A>G (p.Gln242=)
|
rs145499324
|
|
|
NM_020320.5(RARS2):c.888G>C (p.Thr296=)
|
rs145189950
|
|
|
NM_020361.5(CPA6):c.928C>T (p.Leu310Phe)
|
rs587780322
|
|
|
NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys)
|
rs1356633840
|
|
|
NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr)
|
rs774714248
|
|
|
NM_020451.3(SELENON):c.-11_81del (p.Met1fs)
|
rs1557813850
|
|
|
NM_020451.3(SELENON):c.1092+6C>G
|
rs148071754
|
|
|
NM_020451.3(SELENON):c.1350C>G (p.Ile450Met)
|
rs797045949
|
|
|
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup)
|
rs141295085
|
|
|
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)
|
rs797045950
|
|
|
NM_020461.4(TUBGCP6):c.1700_1701inv (p.Leu567Ser)
|
|
|
|
NM_020461.4(TUBGCP6):c.2198G>C (p.Ser733Thr)
|
rs1422096763
|
|
|
NM_020461.4(TUBGCP6):c.2727C>T (p.Ser909=)
|
rs375889859
|
|
|
NM_020461.4(TUBGCP6):c.2893C>T (p.Pro965Ser)
|
rs797046079
|
|
|
NM_020461.4(TUBGCP6):c.3090A>C (p.Ser1030=)
|
|
|
|
NM_020461.4(TUBGCP6):c.3288T>A (p.Asp1096Glu)
|
rs6010209
|
|
|
NM_020461.4(TUBGCP6):c.3291G>T (p.Val1097=)
|
rs1555907480
|
|
|
NM_020461.4(TUBGCP6):c.3532A>T (p.Met1178Leu)
|
rs1215314321
|
|
|
NM_020461.4(TUBGCP6):c.42C>A (p.Ala14=)
|
rs146878404
|
|
|
NM_020533.3(MCOLN1):c.1538del (p.Phe513fs)
|
rs2146026152
|
|
|
NM_020547.3(AMHR2):c.1062T>G (p.Leu354=)
|
rs1555202628
|
|
|
NM_020547.3(AMHR2):c.1216C>T (p.Arg406Ter)
|
rs769617823
|
|
|
NM_020547.3(AMHR2):c.170A>G (p.Tyr57Cys)
|
rs574868905
|
|
|
NM_020547.3(AMHR2):c.3G>A (p.Met1Ile)
|
rs2136937857
|
|
|
NM_020549.5(CHAT):c.25A>G (p.Arg9Gly)
|
rs587780314
|
|
|
NM_020549.5(CHAT):c.635T>A (p.Val212Asp)
|
rs1554802792
|
|
|
NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter)
|
rs1553187443
|
|
|
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter)
|
rs1553188463
|
|
|
NM_020699.4(GATAD2B):c.908G>A (p.Ser303Asn)
|
rs746890210
|
|
|
NM_020699.4(GATAD2B):c.981del (p.Thr328fs)
|
rs797045594
|
|
|
NM_020699.4(GATAD2B):c.983C>T (p.Thr328Met)
|
rs1261538447
|
|
|
NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup)
|
rs201922875
|
|
|
NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup)
|
rs143151534
|
|
|
NM_020745.4(AARS2):c.387CTT[1] (p.Phe131del)
|
rs1561943859
|
|
|
NM_020745.4(AARS2):c.984C>G (p.Ile328Met)
|
rs2153355427
|
|
|
NM_020779.4(WDR35):c.3495C>A (p.Cys1165Ter)
|
rs1475940439
|
|
|
NM_020812.4(DOCK6):c.5764C>T (p.Gln1922Ter)
|
rs2147691056
|
|
|
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
|
|
|
|
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly)
|
rs1554778379
|
|
|
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
|
rs200694691
|
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[9]
|
rs55843930
|
|
|
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile)
|
rs760000324
|
|
|
NM_020822.3(KCNT1):c.534G>C (p.Ala178=)
|
rs144250793
|
|
|
NM_020822.3(KCNT1):c.711C>G (p.Pro237=)
|
rs117286274
|
|
|
NM_020831.6(MRTFA):c.1653C>T (p.Pro551=)
|
rs8135911
|
|
|
NM_020831.6(MRTFA):c.1777C>A (p.Pro593Thr)
|
rs200565523
|
|
|
NM_020831.6(MRTFA):c.1993GCCCCC[4] (p.665AP[4])
|
rs754085988
|
|
|
NM_020831.6(MRTFA):c.1994_1995insACCCGC (p.665AP[4])
|
rs779177848
|
|
|
NM_020831.6(MRTFA):c.2004C>G (p.Pro668=)
|
rs373182628
|
|
|
NM_020921.4(NIN):c.1435G>A (p.Glu479Lys)
|
rs2141730313
|
|
|
NM_020921.4(NIN):c.3007C>G (p.Arg1003Gly)
|
rs751569014
|
|
|
NM_020921.4(NIN):c.3026G>A (p.Ser1009Asn)
|
rs866350711
|
|
|
NM_020921.4(NIN):c.3326A>C (p.Asp1109Ala)
|
rs797045742
|
|
|
NM_020921.4(NIN):c.3641G>A (p.Cys1214Tyr)
|
rs797045743
|
|
|
NM_020921.4(NIN):c.447G>A (p.Thr149=)
|
rs547438612
|
|
|
NM_020921.4(NIN):c.4868A>G (p.Lys1623Arg)
|
rs2140718932
|
|
|
NM_020921.4(NIN):c.5187G>T (p.Lys1729Asn)
|
rs1392282067
|
|
|
NM_020921.4(NIN):c.5302G>T (p.Val1768Phe)
|
rs151233126
|
|
|
NM_020921.4(NIN):c.606G>C (p.Leu202=)
|
rs2141867314
|
|
|
NM_020928.2(ZSWIM6):c.83GCG[7] (p.Gly33dup)
|
rs528020839
|
|
|
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del)
|
rs866897480
|
|
|
NM_020937.4(FANCM):c.174T>G (p.Leu58=)
|
rs1178326678
|
|
|
NM_020937.4(FANCM):c.2258A>G (p.Asp753Gly)
|
rs756438082
|
|
|
NM_020937.4(FANCM):c.3037A>G (p.Lys1013Glu)
|
rs1888643453
|
|
|
NM_020937.4(FANCM):c.3490A>C (p.Lys1164Gln)
|
|
|
|
NM_020937.4(FANCM):c.36G>T (p.Trp12Cys)
|
rs2139099472
|
|
|
NM_020937.4(FANCM):c.4005A>G (p.Lys1335=)
|
rs1888735204
|
|
|
NM_020937.4(FANCM):c.5068G>A (p.Val1690Ile)
|
rs752352756
|
|
|
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp)
|
rs367653310
|
|
|
NM_020937.4(FANCM):c.5196A>T (p.Lys1732Asn)
|
rs2139297724
|
|
|
NM_020937.4(FANCM):c.5219A>G (p.Asp1740Gly)
|
rs2139297887
|
|
|
NM_020937.4(FANCM):c.5434C>A (p.Pro1812Thr)
|
rs3736772
|
|
|
NM_020975.6(RET):c.1648+10G>A
|
rs762545740
|
|
|
NM_020975.6(RET):c.1902_1903delinsTT (p.Arg635Cys)
|
rs2132844768
|
|
|
NM_020975.6(RET):c.1934_1936del (p.Ser645del)
|
rs1416677590
|
|
|
NM_020975.6(RET):c.2262G>A (p.Thr754=)
|
rs779080598
|
|
|
NM_020975.6(RET):c.2523G>T (p.Pro841=)
|
rs56195026
|
|
|
NM_020975.6(RET):c.276C>G (p.Thr92=)
|
rs886042820
|
|
|
NM_020975.6(RET):c.2781C>G (p.Ile927Met)
|
rs1838228721
|
|
|
NM_020975.6(RET):c.2935G>A (p.Glu979Lys)
|
rs2133007152
|
|
|
NM_020975.6(RET):c.3148C>T (p.Arg1050Ter)
|
rs767479170
|
|
|
NM_020987.5(ANK3):c.*9G>T
|
rs373606776
|
|
|
NM_020987.5(ANK3):c.10078C>A (p.Leu3360Met)
|
rs1554863720
|
|
|
NM_020987.5(ANK3):c.10302C>G (p.Leu3434=)
|
rs1554863211
|
|
|
NM_020987.5(ANK3):c.11364CAA[2] (p.Asn3791del)
|
rs768074492
|
|
|
NM_020987.5(ANK3):c.11421T>C (p.Val3807=)
|
rs1554860142
|
|
|
NM_020987.5(ANK3):c.11442C>G (p.Pro3814=)
|
rs140398841
|
|
|
NM_020987.5(ANK3):c.11674G>A (p.Val3892Ile)
|
rs2082224421
|
|
|
NM_020987.5(ANK3):c.11990T>C (p.Ile3997Thr)
|
rs370147674
|
|
|
NM_020987.5(ANK3):c.12595+7G>A
|
rs755265496
|
|
|
NM_020987.5(ANK3):c.12752A>G (p.Asn4251Ser)
|
rs797045231
|
|
|
NM_020987.5(ANK3):c.1290C>G (p.Thr430=)
|
rs374761322
|
|
|
NM_020987.5(ANK3):c.1375C>T (p.Pro459Ser)
|
rs749878219
|
|
|
NM_020987.5(ANK3):c.1690-15_1690-13dup
|
rs34796699
|
|
|
NM_020987.5(ANK3):c.1690-15_1690-14dup
|
rs34796699
|
|
|
NM_020987.5(ANK3):c.2533G>C (p.Asp845His)
|
rs2132296413
|
|
|
NM_020987.5(ANK3):c.2614+6del
|
rs370950407
|
|
|
NM_020987.5(ANK3):c.302A>T (p.Asp101Val)
|
rs797045233
|
|
|
NM_020987.5(ANK3):c.3045G>T (p.Thr1015=)
|
rs3750800
|
|
|
NM_020987.5(ANK3):c.3105C>G (p.Pro1035=)
|
rs55680239
|
|
|
NM_020987.5(ANK3):c.3704A>T (p.Lys1235Ile)
|
rs1554898991
|
|
|
NM_020987.5(ANK3):c.3865C>A (p.His1289Asn)
|
rs797045234
|
|
|
NM_020987.5(ANK3):c.468C>G (p.Val156=)
|
rs71495633
|
|
|
NM_020987.5(ANK3):c.5479G>C (p.Val1827Leu)
|
rs760093151
|
|
|
NM_020987.5(ANK3):c.5773GAG[1] (p.Glu1926del)
|
rs764632652
|
|
|
NM_020987.5(ANK3):c.6121A>G (p.Ile2041Val)
|
rs797045236
|
|
|
NM_020987.5(ANK3):c.6489A>C (p.Thr2163=)
|
rs780981415
|
|
|
NM_020987.5(ANK3):c.7363G>C (p.Glu2455Gln)
|
rs797045237
|
|
|
NM_020987.5(ANK3):c.7940T>A (p.Val2647Asp)
|
rs376931030
|
|
|
NM_020987.5(ANK3):c.8308G>A (p.Ala2770Thr)
|
rs797045238
|
|
|
NM_020987.5(ANK3):c.8592G>T (p.Lys2864Asn)
|
rs186051700
|
|
|
NM_020987.5(ANK3):c.9456T>C (p.Thr3152=)
|
rs41274670
|
|
|
NM_020987.5(ANK3):c.9500T>C (p.Leu3167Ser)
|
rs1554865795
|
|
|
NM_020987.5(ANK3):c.9939C>A (p.Asp3313Glu)
|
rs765015032
|
|
|
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile)
|
rs1555499800
|
|
|
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
|
|
|
|
NM_020999.4(NEUROG3):c.162C>A (p.Cys54Ter)
|
rs1461650439
|
|
|
NM_021005.4(NR2F2):c.931G>A (p.Glu311Lys)
|
|
|
|
NM_021008.4(DEAF1):c.1350G>T (p.Pro450=)
|
rs764182783
|
|
|
NM_021008.4(DEAF1):c.1388T>C (p.Leu463Ser)
|
rs1554941501
|
|
|
NM_021008.4(DEAF1):c.294G>A (p.Val98=)
|
rs1038817783
|
|
|
NM_021008.4(DEAF1):c.56_82del (p.Val19_Ala27del)
|
rs768085739
|
|
|
NM_021008.4(DEAF1):c.56_85del (p.Val19_Ala28del)
|
rs748949371
|
|
|
NM_021008.4(DEAF1):c.600C>T (p.Asp200=)
|
rs2133406587
|
|
|
NM_021008.4(DEAF1):c.72_95del (p.Val25_Ala32del)
|
rs752994574
|
|
|
NM_021044.4(DHH):c.160G>C (p.Glu54Gln)
|
rs2120839689
|
|
|
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del)
|
rs747975797
|
|
|
NM_021120.4(DLG3):c.1172A>G (p.Lys391Arg)
|
rs1555961844
|
|
|
NM_021120.4(DLG3):c.1242C>T (p.Ile414=)
|
rs797045524
|
|
|
NM_021120.4(DLG3):c.1405+5_1405+7del
|
rs797045525
|
|
|
NM_021252.5(RAB18):c.452G>A (p.Ser151Asn)
|
rs1834932554
|
|
|
NM_021614.4(KCNN2):c.1713T>G (p.Ile571Met)
|
rs1761282406
|
|
|
NM_021738.3(SVIL):c.3776T>C (p.Met1259Thr)
|
|
|
|
NM_021784.5(FOXA2):c.828C>G (p.Ala276=)
|
rs371309076
|
|
|
NM_021871.4(FGA):c.1406T>G (p.Val469Gly)
|
rs2110809914
|
|
|
NM_021871.4(FGA):c.28G>A (p.Val10Ile)
|
|
|
|
NM_021871.4(FGA):c.928C>T (p.Pro310Ser)
|
|
|
|
NM_021922.3(FANCE):c.-3G>C
|
rs1429194659
|
|
|
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)
|
rs200535245
|
|
|
NM_021922.3(FANCE):c.1446A>T (p.Ala482=)
|
rs2150901517
|
|
|
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter)
|
rs2150885915
|
|
|
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del)
|
rs45451605
|
|
|
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg)
|
rs139600847
|
|
|
NM_021926.4(ALX4):c.528C>G (p.Asp176Glu)
|
|
|
|
NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys)
|
rs149626892
|
|
|
NM_021956.5(GRIK2):c.1065C>T (p.Phe355=)
|
rs542238643
|
|
|
NM_021956.5(GRIK2):c.1741A>G (p.Ile581Val)
|
rs1554281005
|
|
|
NM_021956.5(GRIK2):c.2025T>G (p.Ala675=)
|
rs1225063408
|
|
|
NM_021956.5(GRIK2):c.2180G>T (p.Arg727Leu)
|
rs375405316
|
|
|
NM_021956.5(GRIK2):c.2226C>A (p.Ile742=)
|
rs3213607
|
|
|
NM_021956.5(GRIK2):c.222T>C (p.Thr74=)
|
rs112817493
|
|
|
NM_021956.5(GRIK2):c.2303C>G (p.Thr768Ser)
|
rs748950853
|
|
|
NM_021956.5(GRIK2):c.724-7del
|
rs2243352
|
|
|
NM_022081.6(HPS4):c.1715A>G (p.Tyr572Cys)
|
rs797045615
|
|
|
NM_022081.6(HPS4):c.320G>T (p.Arg107Leu)
|
rs138885334
|
|
|
NM_022089.4(ATP13A2):c.1353+15T>G
|
rs1553168619
|
|
|
NM_022089.4(ATP13A2):c.1353+20T>G
|
rs1553168615
|
|
|
NM_022095.4(ZNF335):c.1319G>T (p.Arg440Leu)
|
rs530390392
|
|
|
NM_022095.4(ZNF335):c.147_152dup (p.Glu50_Ala51dup)
|
rs1555852178
|
|
|
NM_022095.4(ZNF335):c.1486A>G (p.Lys496Glu)
|
rs587780521
|
|
|
NM_022095.4(ZNF335):c.2168TCT[1] (p.Phe724del)
|
rs773283542
|
|
|
NM_022095.4(ZNF335):c.2515_2518dup (p.Thr840fs)
|
rs797046124
|
|
|
NM_022095.4(ZNF335):c.2564C>T (p.Ala855Val)
|
rs564168844
|
|
|
NM_022095.4(ZNF335):c.3820-7_3820-6del
|
rs150750750
|
|
|
NM_022095.4(ZNF335):c.815-3del
|
rs551678383
|
|
|
NM_022095.4(ZNF335):c.825C>T (p.Ala275=)
|
rs797046125
|
|
|
NM_022124.6(CDH23):c.4104+1G>T
|
rs2132826354
|
|
|
NM_022124.6(CDH23):c.572G>A (p.Arg191Gln)
|
rs372588663
|
|
|
NM_022173.4(TIA1):c.223-3dup
|
rs750862626
|
|
|
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His)
|
rs115590670
|
|
|
NM_022436.3(ABCG5):c.1640G>C (p.Gly547Ala)
|
rs2104783854
|
|
|
NM_022437.3(ABCG8):c.456C>T (p.Arg152=)
|
rs751273378
|
|
|
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del
|
|
|
|
NM_022455.4(NSD1):c.5408_5411delACTAins9
|
|
|
|
NM_022455.5(NSD1):c.1077del (p.Arg359fs)
|
rs587784068
|
|
|
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter)
|
rs587784071
|
|
|
NM_022455.5(NSD1):c.1264dup (p.Glu422fs)
|
rs797045804
|
|
|
NM_022455.5(NSD1):c.1428G>A (p.Leu476=)
|
rs587784072
|
|
|
NM_022455.5(NSD1):c.1456del (p.Ser486fs)
|
rs587784073
|
|
|
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs)
|
rs2149843640
|
|
|
NM_022455.5(NSD1):c.1802dup (p.Cys602fs)
|
rs797045805
|
|
|
NM_022455.5(NSD1):c.1805G>A (p.Cys602Tyr)
|
rs797045806
|
|
|
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)
|
rs587784076
|
|
|
NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu)
|
rs61744451
|
|
|
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)
|
rs587784077
|
|
|
NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs)
|
rs587784078
|
|
|
NM_022455.5(NSD1):c.2048del (p.Lys683fs)
|
rs587784079
|
|
|
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)
|
rs587784080
|
|
|
NM_022455.5(NSD1):c.2064del (p.Arg688fs)
|
rs587784081
|
|
|
NM_022455.5(NSD1):c.2124_2127del (p.His708fs)
|
rs587784082
|
|
|
NM_022455.5(NSD1):c.2167dup (p.Thr723fs)
|
rs797045807
|
|
|
NM_022455.5(NSD1):c.2190_2191delinsG (p.Ser731fs)
|
rs797045808
|
|
|
NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter)
|
rs587784084
|
|
|
NM_022455.5(NSD1):c.2295del (p.Ser766fs)
|
rs587784085
|
|
|
NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter)
|
rs201327209
|
|
|
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs)
|
rs587784086
|
|
|
NM_022455.5(NSD1):c.2639del (p.Gly880fs)
|
rs587784087
|
|
|
NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter)
|
rs587784088
|
|
|
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)
|
rs2149846283
|
|
|
NM_022455.5(NSD1):c.2827del (p.Asp943fs)
|
rs587784089
|
|
|
NM_022455.5(NSD1):c.2859dup (p.Lys954Ter)
|
rs797045809
|
|
|
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)
|
rs587784092
|
|
|
NM_022455.5(NSD1):c.2956del (p.Ala986fs)
|
rs587784093
|
|
|
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs)
|
rs1554189941
|
|
|
NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs)
|
rs587784094
|
|
|
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)
|
rs587784095
|
|
|
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)
|
rs587784096
|
|
|
NM_022455.5(NSD1):c.3146dup (p.Thr1050fs)
|
rs797045810
|
|
|
NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs)
|
rs587784097
|
|
|
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)
|
rs587784098
|
|
|
NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs)
|
rs797045811
|
|
|
NM_022455.5(NSD1):c.3293del (p.Thr1098fs)
|
rs587784099
|
|
|
NM_022455.5(NSD1):c.3295del (p.Ser1099fs)
|
rs587784100
|
|
|
NM_022455.5(NSD1):c.3316dup (p.Ser1106fs)
|
rs797045812
|
|
|
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)
|
rs587784101
|
|
|
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter)
|
rs797045813
|
|
|
NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs)
|
rs587784103
|
|
|
NM_022455.5(NSD1):c.3578dup (p.Ser1193fs)
|
rs797045814
|
|
|
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)
|
rs587784104
|
|
|
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
|
rs587784105
|
|
|
NM_022455.5(NSD1):c.3888A>G (p.Lys1296=)
|
rs587784106
|
|
|
NM_022455.5(NSD1):c.3922-2_3925delinsG
|
rs1554195815
|
|
|
NM_022455.5(NSD1):c.3939dup (p.Glu1314fs)
|
rs797045815
|
|
|
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
|
rs121908070
|
|
|
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)
|
rs587784107
|
|
|
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly)
|
rs587784108
|
|
|
NM_022455.5(NSD1):c.4020del (p.Glu1341fs)
|
rs797045816
|
|
|
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter)
|
rs587784109
|
|
|
NM_022455.5(NSD1):c.4062C>T (p.Gly1354=)
|
rs144562009
|
|
|
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter)
|
rs587784110
|
|
|
NM_022455.5(NSD1):c.4192+2T>G
|
rs587784111
|
|
|
NM_022455.5(NSD1):c.4282dup (p.Asp1428fs)
|
rs797045817
|
|
|
NM_022455.5(NSD1):c.4301del (p.Lys1434fs)
|
rs587784112
|
|
|
NM_022455.5(NSD1):c.4301dup (p.Cys1435fs)
|
rs587784112
|
|
|
NM_022455.5(NSD1):c.4363A>G (p.Lys1455Glu)
|
rs587784113
|
|
|
NM_022455.5(NSD1):c.4376del (p.Gly1459fs)
|
rs587784114
|
|
|
NM_022455.5(NSD1):c.4378+1G>A
|
rs587784115
|
|
|
NM_022455.5(NSD1):c.4378+7A>G
|
rs587784116
|
|
|
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter)
|
rs570278338
|
|
|
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
|
rs587784117
|
|
|
NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter)
|
rs587784118
|
|
|
NM_022455.5(NSD1):c.4479_4488dup (p.Gly1497fs)
|
rs797045819
|
|
|
NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter)
|
rs587784119
|
|
|
NM_022455.5(NSD1):c.4498-10del
|
rs200890017
|
|
|
NM_022455.5(NSD1):c.4498-3A>G
|
rs587784120
|
|
|
NM_022455.5(NSD1):c.4529del (p.Ser1510fs)
|
rs587784121
|
|
|
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn)
|
rs201483724
|
|
|
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724
|
|
|
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter)
|
rs587784122
|
|
|
NM_022455.5(NSD1):c.4705del (p.Glu1569fs)
|
rs587784123
|
|
|
NM_022455.5(NSD1):c.4731_4732del (p.Gly1579fs)
|
rs587784124
|
|
|
NM_022455.5(NSD1):c.4732dup (p.Arg1578fs)
|
rs797045820
|
|
|
NM_022455.5(NSD1):c.4745del (p.Ile1582fs)
|
rs587784125
|
|
|
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter)
|
rs587784126
|
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
|
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser)
|
rs398124378
|
|
|
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser)
|
rs587784128
|
|
|
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly)
|
rs587784128
|
|
|
NM_022455.5(NSD1):c.4882_4883insAA (p.Met1628fs)
|
rs797045821
|
|
|
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe)
|
rs587784129
|
|
|
NM_022455.5(NSD1):c.4966+1G>A
|
rs587784131
|
|
|
NM_022455.5(NSD1):c.4966G>T (p.Gly1656Cys)
|
rs587784132
|
|
|
NM_022455.5(NSD1):c.4967-2A>T
|
rs587784133
|
|
|
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys)
|
rs587784134
|
|
|
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr)
|
rs587784135
|
|
|
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)
|
rs1554200207
|
|
|
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)
|
rs587784137
|
|
|
NM_022455.5(NSD1):c.5141C>G (p.Ser1714Ter)
|
rs587784138
|
|
|
NM_022455.5(NSD1):c.5146+1G>A
|
rs587784139
|
|
|
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr)
|
rs587784140
|
|
|
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs)
|
rs398124379
|
|
|
NM_022455.5(NSD1):c.5303+1G>C
|
rs587784141
|
|
|
NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter)
|
rs587784142
|
|
|
NM_022455.5(NSD1):c.5375G>A (p.Gly1792Glu)
|
rs587784143
|
|
|
NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro)
|
rs587784144
|
|
|
NM_022455.5(NSD1):c.5392_5398del (p.Phe1798fs)
|
rs587784145
|
|
|
NM_022455.5(NSD1):c.5407_5410dup (p.Tyr1804Ter)
|
rs797045823
|
|
|
NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro)
|
rs587784146
|
|
|
NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter)
|
rs587784147
|
|
|
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)
|
rs587784148
|
|
|
NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln)
|
rs587784149
|
|
|
NM_022455.5(NSD1):c.5471A>G (p.Asp1824Gly)
|
rs587784150
|
|
|
NM_022455.5(NSD1):c.5566C>T (p.Gln1856Ter)
|
rs587784151
|
|
|
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)
|
rs886041218
|
|
|
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs)
|
rs587784152
|
|
|
NM_022455.5(NSD1):c.5630G>A (p.Arg1877His)
|
rs1554204064
|
|
|
NM_022455.5(NSD1):c.5712del (p.Cys1905fs)
|
rs587784153
|
|
|
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro)
|
rs587784155
|
|
|
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)
|
rs61749654
|
|
|
NM_022455.5(NSD1):c.5790dup (p.Cys1931fs)
|
rs797045824
|
|
|
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser)
|
rs587784156
|
|
|
NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter)
|
rs587784157
|
|
|
NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter)
|
rs587784158
|
|
|
NM_022455.5(NSD1):c.5809T>C (p.Ser1937Pro)
|
rs587784159
|
|
|
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys)
|
rs587784160
|
|
|
NM_022455.5(NSD1):c.5869C>T (p.Arg1957Trp)
|
rs587784161
|
|
|
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr)
|
rs587784162
|
|
|
NM_022455.5(NSD1):c.5893-2A>G
|
rs587784163
|
|
|
NM_022455.5(NSD1):c.5903del (p.Val1968fs)
|
rs587784164
|
|
|
NM_022455.5(NSD1):c.5911del (p.Tyr1971fs)
|
rs587784165
|
|
|
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val)
|
rs587784166
|
|
|
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys)
|
rs587784167
|
|
|
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr)
|
rs587784167
|
|
|
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter)
|
rs587784168
|
|
|
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)
|
rs587784169
|
|
|
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)
|
rs587784170
|
|
|
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His)
|
rs587784171
|
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
|
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)
|
rs587784174
|
|
|
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)
|
rs1554204921
|
|
|
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)
|
rs587784176
|
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
|
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser)
|
rs587784178
|
|
|
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter)
|
rs587784179
|
|
|
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser)
|
rs587784180
|
|
|
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile)
|
rs587784181
|
|
|
NM_022455.5(NSD1):c.6094_6095dup (p.Trp2032fs)
|
rs797045826
|
|
|
NM_022455.5(NSD1):c.6112dup (p.Thr2038fs)
|
rs797045827
|
|
|
NM_022455.5(NSD1):c.6151+1G>A
|
rs1562296511
|
|
|
NM_022455.5(NSD1):c.6152-14G>A
|
rs587784182
|
|
|
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter)
|
rs587784183
|
|
|
NM_022455.5(NSD1):c.6165del (p.Phe2056fs)
|
rs587784184
|
|
|
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)
|
rs398124380
|
|
|
NM_022455.5(NSD1):c.6218dup (p.Ala2074fs)
|
rs797045828
|
|
|
NM_022455.5(NSD1):c.6258+1G>A
|
rs587784185
|
|
|
NM_022455.5(NSD1):c.6290dup (p.Lys2098fs)
|
rs797045829
|
|
|
NM_022455.5(NSD1):c.6291del (p.Lys2098fs)
|
rs587784186
|
|
|
NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter)
|
rs587784187
|
|
|
NM_022455.5(NSD1):c.6307_6308insTGTGC (p.Gln2103fs)
|
rs797045830
|
|
|
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter)
|
rs587784188
|
|
|
NM_022455.5(NSD1):c.6311_6312del (p.Gln2104fs)
|
rs587784189
|
|
|
NM_022455.5(NSD1):c.6344dup (p.Glu2116fs)
|
rs797045831
|
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
|
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)
|
rs587784191
|
|
|
NM_022455.5(NSD1):c.6366del (p.Phe2122fs)
|
rs587784192
|
|
|
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val)
|
rs587784193
|
|
|
NM_022455.5(NSD1):c.6393C>G (p.Val2131=)
|
rs587784194
|
|
|
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)
|
rs587784195
|
|
|
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu)
|
rs587784196
|
|
|
NM_022455.5(NSD1):c.6421del (p.Val2141fs)
|
rs587784197
|
|
|
NM_022455.5(NSD1):c.6431del (p.Ala2144fs)
|
rs587784198
|
|
|
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter)
|
rs587784199
|
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
|
NM_022455.5(NSD1):c.6459_6463+5del
|
rs797045832
|
|
|
NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter)
|
rs587784201
|
|
|
NM_022455.5(NSD1):c.6476G>A (p.Cys2159Tyr)
|
rs587784202
|
|
|
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro)
|
rs587784204
|
|
|
NM_022455.5(NSD1):c.6488del (p.Gln2163fs)
|
rs2127279186
|
|
|
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr)
|
rs587784205
|
|
|
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del)
|
rs587784206
|
|
|
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs)
|
rs587784207
|
|
|
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer)
|
rs797045833
|
|
|
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)
|
rs587784208
|
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
|
NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser)
|
rs587784210
|
|
|
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del)
|
rs587784211
|
|
|
NM_022455.5(NSD1):c.6637C>G (p.Leu2213Val)
|
rs587784212
|
|
|
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys)
|
rs587784213
|
|
|
NM_022455.5(NSD1):c.6656G>A (p.Arg2219His)
|
rs587784214
|
|
|
NM_022455.5(NSD1):c.6753A>G (p.Ser2251=)
|
rs587784215
|
|
|
NM_022455.5(NSD1):c.7560A>G (p.Ala2520=)
|
rs587784218
|
|
|
NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys)
|
rs1180593710
|
|
|
NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter)
|
rs797045834
|
|
|
NM_022455.5(NSD1):c.7939_7940del (p.Gln2647fs)
|
rs587784219
|
|
|
NM_022455.5(NSD1):c.8036del (p.Pro2679fs)
|
rs587784220
|
|
|
NM_022455.5(NSD1):c.8043del (p.Asn2682fs)
|
rs587784221
|
|
|
NM_022552.5(DNMT3A):c.1015-4C>T
|
rs771608861
|
|
|
NM_022552.5(DNMT3A):c.2145C>T (p.Ile715=)
|
rs2149273784
|
|
|
NM_022725.4(FANCF):c.301C>T (p.Arg101Trp)
|
rs760571335
|
|
|
NM_022725.4(FANCF):c.345C>A (p.Leu115=)
|
rs749884571
|
|
|
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser)
|
rs565372884
|
|
|
NM_022725.4(FANCF):c.474G>A (p.Gln158=)
|
rs1858627811
|
|
|
NM_022725.4(FANCF):c.529G>A (p.Val177Met)
|
rs775816396
|
|
|
NM_022725.4(FANCF):c.555C>T (p.Pro185=)
|
rs1156693900
|
|
|
NM_022725.4(FANCF):c.618G>C (p.Ala206=)
|
rs1056134185
|
|
|
NM_022725.4(FANCF):c.632_634dup (p.Gln211dup)
|
rs748880303
|
|
|
NM_022725.4(FANCF):c.63C>G (p.Thr21=)
|
rs368275132
|
|
|
NM_022725.4(FANCF):c.774G>A (p.Gly258=)
|
rs2133796823
|
|
|
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)
|
rs1554162301
|
|
|
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)
|
rs1554162016
|
|
|
NM_023067.4(FOXL2):c.858T>G (p.Pro286=)
|
|
|
|
NM_023077.3(COA7):c.107-2A>G
|
rs2149904888
|
|
|
NM_023110.3(FGFR1):c.1028C>T (p.Ala343Val)
|
rs1818935081
|
|
|
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter)
|
rs121909639
|
|
|
NM_023110.3(FGFR1):c.2059G>C (p.Gly687Arg)
|
rs727505376
|
|
|
NM_023110.3(FGFR1):c.2223del (p.Ser742fs)
|
rs1586093849
|
|
|
NM_023110.3(FGFR1):c.809G>A (p.Gly270Asp)
|
rs2150822504
|
|
|
NM_024079.5(ALG8):c.615A>G (p.Val205=)
|
rs2136904189
|
|
|
NM_024079.5(ALG8):c.811C>T (p.Pro271Ser)
|
|
|
|
NM_024101.7(MLPH):c.1485C>G (p.Ala495=)
|
rs113254879
|
|
|
NM_024101.7(MLPH):c.1539G>T (p.Pro513=)
|
rs151070956
|
|
|
NM_024101.7(MLPH):c.1745C>T (p.Ala582Val)
|
rs112711398
|
|
|
NM_024101.7(MLPH):c.880+10del
|
rs758805619
|
|
|
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln)
|
rs587780334
|
|
|
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe)
|
rs1555738197
|
|
|
NM_024301.5(FKRP):c.426G>T (p.Glu142Asp)
|
rs797045575
|
|
|
NM_024306.5(FA2H):c.762C>T (p.Phe254=)
|
rs797045569
|
|
|
NM_024334.3(TMEM43):c.853C>T (p.Leu285Phe)
|
rs186530498
|
|
|
NM_024408.4(NOTCH2):c.112G>A (p.Glu38Lys)
|
rs61788901
|
|
|
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=)
|
rs4021006
|
|
|
NM_024408.4(NOTCH2):c.17_18del (p.Pro6fs)
|
rs372504208
|
|
|
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp)
|
rs11810554
|
|
|
NM_024408.4(NOTCH2):c.61G>A (p.Ala21Thr)
|
rs2603926
|
|
|
NM_024411.5(PDYN):c.34del (p.Leu12fs)
|
rs761385412
|
|
|
NM_024411.5(PDYN):c.394G>T (p.Gly132Cys)
|
rs1430436485
|
|
|
NM_024411.5(PDYN):c.658_659del (p.Trp220fs)
|
rs748307861
|
|
|
NM_024411.5(PDYN):c.80C>G (p.Ser27Cys)
|
rs536626217
|
|
|
NM_024426.6(WT1):c.1174G>A (p.Glu392Lys)
|
rs1851970123
|
|
|
NM_024426.6(WT1):c.1349A>G (p.His450Arg)
|
rs1851851609
|
|
|
NM_024426.6(WT1):c.1354+5G>A
|
rs2132919246
|
|
|
NM_024426.6(WT1):c.1448-20_1448-1del
|
rs2132900093
|
|
|
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter)
|
rs1345176461
|
|
|
NM_024529.5(CDC73):c.412C>A (p.Pro138Thr)
|
rs369542555
|
|
|
NM_024529.5(CDC73):c.49del (p.Glu17fs)
|
rs2103111657
|
|
|
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)
|
rs760591174
|
|
|
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=)
|
rs6871030
|
|
|
NM_024580.6(EFL1):c.2005C>T (p.Arg669Ter)
|
rs2141235535
|
|
|
NM_024580.6(EFL1):c.2959T>G (p.Cys987Gly)
|
|
|
|
NM_024580.6(EFL1):c.91+6A>G
|
|
|
|
NM_024596.5(MCPH1):c.1163G>A (p.Cys388Tyr)
|
rs758015103
|
|
|
NM_024596.5(MCPH1):c.1188C>A (p.His396Gln)
|
rs570511077
|
|
|
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys)
|
rs202004426
|
|
|
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)
|
rs548329168
|
|
|
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly)
|
rs587783734
|
|
|
NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe)
|
rs34418490
|
|
|
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs)
|
rs1554496609
|
|
|
NM_024596.5(MCPH1):c.22+2_22+4del
|
rs1554471681
|
|
|
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=)
|
rs35999761
|
|
|
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=)
|
rs35999761
|
|
|
NM_024596.5(MCPH1):c.2257G>C (p.Gly753Arg)
|
rs587783737
|
|
|
NM_024596.5(MCPH1):c.2282C>A (p.Ala761Glu)
|
rs1057090
|
|
|
NM_024596.5(MCPH1):c.2282C>G (p.Ala761Gly)
|
rs1057090
|
|
|
NM_024596.5(MCPH1):c.2288T>C (p.Phe763Ser)
|
rs587783738
|
|
|
NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys)
|
rs35013679
|
|
|
NM_024596.5(MCPH1):c.2452+49C>G
|
rs41306051
|
|
|
NM_024596.5(MCPH1):c.2453-1G>C
|
rs587783739
|
|
|
NM_024596.5(MCPH1):c.2477G>T (p.Cys826Phe)
|
rs1554492950
|
|
|
NM_024596.5(MCPH1):c.2487A>C (p.Glu829Asp)
|
rs587783740
|
|
|
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu)
|
rs587783741
|
|
|
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr)
|
rs2290145
|
|
|
NM_024596.5(MCPH1):c.40G>A (p.Glu14Lys)
|
rs2129550760
|
|
|
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)
|
rs199422125
|
|
|
NM_024596.5(MCPH1):c.433C>G (p.Leu145Val)
|
rs139607465
|
|
|
NM_024596.5(MCPH1):c.433C>T (p.Leu145=)
|
rs139607465
|
|
|
NM_024596.5(MCPH1):c.614C>T (p.Pro205Leu)
|
rs587783742
|
|
|
NM_024596.5(MCPH1):c.670+31G>A
|
rs2922827
|
|
|
NM_024598.4(USB1):c.*317CT[5]
|
rs58782258
|
|
|
NM_024598.4(USB1):c.206del (p.Gly69fs)
|
rs1963248804
|
|
|
NM_024598.4(USB1):c.215G>A (p.Arg72His)
|
rs372917091
|
|
|
NM_024598.4(USB1):c.240C>G (p.Asn80Lys)
|
rs2142291375
|
|
|
NM_024598.4(USB1):c.335G>C (p.Arg112Pro)
|
rs142683238
|
|
|
NM_024598.4(USB1):c.481del (p.Tyr161fs)
|
rs1963565243
|
|
|
NM_024598.4(USB1):c.776TCT[1] (p.Phe260del)
|
rs2142314709
|
|
|
NM_024649.5(BBS1):c.1439C>G (p.Thr480Arg)
|
rs374706769
|
|
|
NM_024649.5(BBS1):c.952-1G>C
|
rs1057516661
|
|
|
NM_024649.5(BBS1):c.976A>T (p.Met326Leu)
|
rs200758309
|
|
|
NM_024675.4(PALB2):c.1293T>G (p.Ser431Arg)
|
rs1555461355
|
|
|
NM_024675.4(PALB2):c.1347A>G (p.Lys449=)
|
rs587780205
|
|
|
NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg)
|
rs1555460644
|
|
|
NM_024675.4(PALB2):c.1818T>G (p.Phe606Leu)
|
rs1484066130
|
|
|
NM_024675.4(PALB2):c.212-10del
|
rs766487430
|
|
|
NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr)
|
rs958566673
|
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
|
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe)
|
rs876659160
|
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
|
NM_024675.4(PALB2):c.3154GAT[1] (p.Asp1053del)
|
rs1555458817
|
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
|
NM_024675.4(PALB2):c.3367G>C (p.Val1123Leu)
|
rs757118000
|
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
|
NM_024685.4(BBS10):c.1074G>T (p.Ser358=)
|
rs551803123
|
|
|
NM_024685.4(BBS10):c.1138dup (p.Arg380fs)
|
rs1555202645
|
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
|
NM_024685.4(BBS10):c.1674T>G (p.Ser558=)
|
rs769632511
|
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
|
NM_024735.5(FBXO31):c.117C>A (p.Pro39=)
|
rs780050895
|
|
|
NM_024735.5(FBXO31):c.183G>T (p.Pro61=)
|
rs755595947
|
|
|
NM_024735.5(FBXO31):c.490-7_490-5del
|
rs773844606
|
|
|
NM_024740.2(ALG9):c.1225del (p.Arg409fs)
|
|
|
|
NM_024740.2(ALG9):c.334C>T (p.Arg112Cys)
|
|
|
|
NM_024747.6(HPS6):c.1255G>A (p.Ala419Thr)
|
rs763676668
|
|
|
NM_024747.6(HPS6):c.1693T>G (p.Phe565Val)
|
rs1554903728
|
|
|
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter)
|
rs1220869113
|
|
|
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu)
|
rs544314793
|
|
|
NM_024747.6(HPS6):c.369C>G (p.Gly123=)
|
rs1554903545
|
|
|
NM_024753.5(TTC21B):c.114C>G (p.Val38=)
|
rs34486024
|
|
|
NM_024753.5(TTC21B):c.3021_3025dup (p.Phe1009fs)
|
rs1553506928
|
|
|
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=)
|
rs115504901
|
|
|
NM_024757.5(EHMT1):c.1094A>G (p.Glu365Gly)
|
rs797045552
|
|
|
NM_024757.5(EHMT1):c.162C>G (p.Thr54=)
|
rs200372336
|
|
|
NM_024757.5(EHMT1):c.1858C>A (p.Arg620=)
|
rs137852718
|
|
|
NM_024757.5(EHMT1):c.2010A>T (p.Thr670=)
|
rs370681959
|
|
|
NM_024757.5(EHMT1):c.2011A>G (p.Thr671Ala)
|
rs797045553
|
|
|
NM_024757.5(EHMT1):c.2368C>T (p.His790Tyr)
|
rs1554882071
|
|
|
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)
|
rs587780332
|
|
|
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr)
|
rs797045555
|
|
|
NM_024757.5(EHMT1):c.300_305del (p.Asp100_Ser101del)
|
rs780324829
|
|
|
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn)
|
rs138283222
|
|
|
NM_024757.5(EHMT1):c.3123C>A (p.Val1041=)
|
rs141527497
|
|
|
NM_024757.5(EHMT1):c.3374+9C>G
|
rs765227211
|
|
|
NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del)
|
rs1554908290
|
|
|
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr)
|
rs777999570
|
|
|
NM_024757.5(EHMT1):c.3864C>T (p.Asp1288=)
|
rs797045556
|
|
|
NM_024757.5(EHMT1):c.390G>T (p.Pro130=)
|
rs144323841
|
|
|
NM_024757.5(EHMT1):c.432C>T (p.Ala144=)
|
rs139461232
|
|
|
NM_024757.5(EHMT1):c.981+7G>A
|
rs797045557
|
|
|
NM_024809.5(TCTN2):c.134dup (p.Val46fs)
|
rs797046040
|
|
|
NM_024809.5(TCTN2):c.333T>C (p.Asp111=)
|
rs534113568
|
|
|
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met)
|
rs376996387
|
|
|
NM_024824.5(ZC3H14):c.171C>G (p.Asn57Lys)
|
rs764670721
|
|
|
NM_024824.5(ZC3H14):c.1868+34_1868+64del
|
rs746759188
|
|
|
NM_024824.5(ZC3H14):c.2005+12_2005+15del
|
rs753463561
|
|
|
NM_024824.5(ZC3H14):c.736C>G (p.Gln246Glu)
|
rs797046115
|
|
|
NM_024824.5(ZC3H14):c.79+14dup
|
rs762212365
|
|
|
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs)
|
rs1555328749
|
|
|
NM_024884.3(L2HGDH):c.1058T>C (p.Ile353Thr)
|
rs1555328744
|
|
|
NM_024884.3(L2HGDH):c.1115del (p.Met372fs)
|
rs786200869
|
|
|
NM_024884.3(L2HGDH):c.460G>C (p.Glu154Gln)
|
rs797045677
|
|
|
NM_024884.3(L2HGDH):c.465del (p.Gly156fs)
|
rs797045678
|
|
|
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys)
|
rs887386390
|
|
|
NM_024884.3(L2HGDH):c.835G>A (p.Val279Ile)
|
rs1555328968
|
|
|
NM_024989.4(PGAP1):c.1447G>C (p.Val483Leu)
|
rs1329688368
|
|
|
NM_024989.4(PGAP1):c.1494T>C (p.Phe498=)
|
rs1553601067
|
|
|
NM_024989.4(PGAP1):c.1948T>C (p.Leu650=)
|
rs1488181217
|
|
|
NM_024989.4(PGAP1):c.1969G>A (p.Glu657Lys)
|
rs1169608420
|
|
|
NM_025000.4(DCAF17):c.1027del (p.Asp343fs)
|
|
|
|
NM_025000.4(DCAF17):c.436del (p.Ala147fs)
|
rs797045038
|
|
|
NM_025009.5(CEP135):c.1644_1646del (p.Ala549del)
|
rs776271846
|
|
|
NM_025009.5(CEP135):c.1866C>G (p.Ser622Arg)
|
rs376553815
|
|
|
NM_025009.5(CEP135):c.2435C>T (p.Ser812Phe)
|
rs202214171
|
|
|
NM_025009.5(CEP135):c.297C>T (p.His99=)
|
rs115408010
|
|
|
NM_025009.5(CEP135):c.369A>G (p.Gln123=)
|
rs147451921
|
|
|
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del)
|
rs374626758
|
|
|
NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr)
|
rs199542867
|
|
|
NM_025074.7(FRAS1):c.7029+9A>C
|
rs188606284
|
|
|
NM_025074.7(FRAS1):c.7522+1G>T
|
rs730882180
|
|
|
NM_025077.4(TOE1):c.492+5G>A
|
rs200132965
|
|
|
NM_025099.6(CTC1):c.*3198G>T
|
rs568877108
|
|
|
NM_025099.6(CTC1):c.1064_1065del (p.Leu355fs)
|
rs2151522778
|
|
|
NM_025099.6(CTC1):c.1213del (p.Asp405fs)
|
rs1444923772
|
|
|
NM_025099.6(CTC1):c.131_134del (p.Asp44fs)
|
rs1250113146
|
|
|
NM_025099.6(CTC1):c.1667AAG[2] (p.Glu558del)
|
rs756079894
|
|
|
NM_025099.6(CTC1):c.2048A>C (p.Lys683Thr)
|
rs2151510866
|
|
|
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser)
|
rs770505786
|
|
|
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)
|
rs78870822
|
|
|
NM_025099.6(CTC1):c.265AGT[3] (p.Ser90dup)
|
rs879863262
|
|
|
NM_025099.6(CTC1):c.2831del (p.Pro944fs)
|
rs199473677
|
|
|
NM_025099.6(CTC1):c.2831dup (p.His945fs)
|
rs199473677
|
|
|
NM_025099.6(CTC1):c.2843T>G (p.Val948Gly)
|
rs2151503717
|
|
|
NM_025099.6(CTC1):c.2847_2850del (p.Val948_Tyr949insTer)
|
rs2151503678
|
|
|
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)
|
rs199473679
|
|
|
NM_025099.6(CTC1):c.2T>C (p.Met1Thr)
|
rs1299853886
|
|
|
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
|
|
|
|
NM_025099.6(CTC1):c.3222-9T>A
|
rs2151499132
|
|
|
NM_025099.6(CTC1):c.3276T>C (p.His1092=)
|
|
|
|
NM_025099.6(CTC1):c.3333C>T (p.Val1111=)
|
rs2151498663
|
|
|
NM_025099.6(CTC1):c.3456C>T (p.Leu1152=)
|
rs2151497808
|
|
|
NM_025099.6(CTC1):c.3594C>A (p.Cys1198Ter)
|
rs2151496734
|
|
|
NM_025099.6(CTC1):c.397C>G (p.Leu133Val)
|
rs1597389239
|
|
|
NM_025099.6(CTC1):c.416C>G (p.Thr139Ser)
|
rs2151531295
|
|
|
NM_025099.6(CTC1):c.556G>C (p.Val186Leu)
|
rs185346402
|
|
|
NM_025099.6(CTC1):c.615C>T (p.Tyr205=)
|
rs571035242
|
|
|
NM_025099.6(CTC1):c.724_727del (p.Lys242fs)
|
rs199473674
|
|
|
NM_025099.6(CTC1):c.926T>C (p.Leu309Pro)
|
rs1555534628
|
|
|
NM_025103.4(IFT74):c.1398A>C (p.Glu466Asp)
|
rs202158905
|
|
|
NM_025103.4(IFT74):c.727-4T>C
|
rs2131607206
|
|
|
NM_025103.4(IFT74):c.845A>G (p.Tyr282Cys)
|
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
|
NM_025114.4(CEP290):c.2404G>C (p.Glu802Gln)
|
rs1326068086
|
|
|
NM_025114.4(CEP290):c.2427C>G (p.Asn809Lys)
|
|
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
|
NM_025114.4(CEP290):c.2533A>C (p.Arg845=)
|
rs371475408
|
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
|
NM_025114.4(CEP290):c.3574-9T>G
|
rs202038547
|
|
|
NM_025114.4(CEP290):c.4215G>A (p.Met1405Ile)
|
rs797045457
|
|
|
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)
|
rs775294433
|
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
|
NM_025114.4(CEP290):c.5709+45G>C
|
rs45477793
|
|
|
NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr)
|
rs1274778299
|
|
|
NM_025114.4(CEP290):c.6336G>T (p.Arg2112=)
|
rs1475220538
|
|
|
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)
|
rs863225185
|
|
|
NM_025114.4(CEP290):c.729A>G (p.Leu243=)
|
rs1349591192
|
|
|
NM_025137.4(SPG11):c.7152-45A>G
|
rs1391440047
|
|
|
NM_025180.5(CEP63):c.1381_1383del
|
rs766435188
|
|
|
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)
|
rs560987504
|
|
|
NM_025265.4(TSEN2):c.1063G>T (p.Val355Leu)
|
rs368652521
|
|
|
NM_025265.4(TSEN2):c.122G>A (p.Arg41His)
|
rs12495784
|
|
|
NM_025265.4(TSEN2):c.122G>C (p.Arg41Pro)
|
rs12495784
|
|
|
NM_025265.4(TSEN2):c.122G>T (p.Arg41Leu)
|
rs12495784
|
|
|
NM_025265.4(TSEN2):c.1272T>C (p.Ile424=)
|
rs111535594
|
|
|
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del)
|
rs797046052
|
|
|
NM_025265.4(TSEN2):c.162G>C (p.Ala54=)
|
rs78685815
|
|
|
NM_025265.4(TSEN2):c.331G>A (p.Ala111Thr)
|
rs545512354
|
|
|
NM_025265.4(TSEN2):c.525G>A (p.Gly175=)
|
rs768475720
|
|
|
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)
|
rs146117200
|
|
|
NM_025265.4(TSEN2):c.727A>G (p.Ile243Val)
|
rs2125050014
|
|
|
NM_025265.4(TSEN2):c.871T>C (p.Tyr291His)
|
rs2125059760
|
|
|
NM_030578.4(B9D2):c.-4-5C>T
|
rs750683484
|
|
|
NM_030582.4(COL18A1):c.3367_3384del (p.Pro1123_Gly1128del)
|
rs2146075191
|
|
|
NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs)
|
rs797045317
|
|
|
NM_030632.3(ASXL3):c.3929A>C (p.Glu1310Ala)
|
rs75740578
|
|
|
NM_030632.3(ASXL3):c.4706_4710del (p.Lys1568_Leu1569insTer)
|
rs2145429370
|
|
|
NM_030632.3(ASXL3):c.5696G>C (p.Arg1899Pro)
|
rs562192619
|
|
|
NM_030632.3(ASXL3):c.5774C>T (p.Thr1925Ile)
|
rs1555745166
|
|
|
NM_030632.3(ASXL3):c.6312C>A (p.Asp2104Glu)
|
rs797045318
|
|
|
NM_030632.3(ASXL3):c.6365T>G (p.Phe2122Cys)
|
rs1272430780
|
|
|
NM_030632.3(ASXL3):c.6477T>C (p.Phe2159=)
|
|
|
|
NM_030632.3(ASXL3):c.694C>A (p.Arg232=)
|
rs1302254196
|
|
|
NM_030653.4(DDX11):c.1419G>A (p.Thr473=)
|
|
|
|
NM_030662.4(MAP2K2):c.895A>C (p.Arg299=)
|
rs2145049627
|
|
|
NM_030665.4(RAI1):c.1054C>T (p.Arg352Cys)
|
rs907728820
|
|
|
NM_030665.4(RAI1):c.1665C>G (p.Thr555=)
|
rs769515020
|
|
|
NM_030665.4(RAI1):c.1740G>T (p.Pro580=)
|
rs138768616
|
|
|
NM_030665.4(RAI1):c.2931C>A (p.Asn977Lys)
|
rs754379238
|
|
|
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=)
|
rs398124416
|
|
|
NM_030665.4(RAI1):c.3709C>G (p.Arg1237Gly)
|
rs1555565828
|
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
|
NM_030665.4(RAI1):c.453G>C (p.Val151=)
|
rs767613627
|
|
|
NM_030665.4(RAI1):c.5470G>C (p.Val1824Leu)
|
rs778040446
|
|
|
NM_030665.4(RAI1):c.5517C>T (p.Ala1839=)
|
rs377747563
|
|
|
NM_030665.4(RAI1):c.643T>C (p.Ser215Pro)
|
rs1555564927
|
|
|
NM_030665.4(RAI1):c.76C>T (p.Arg26Cys)
|
rs376964045
|
|
|
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[17] (p.Gln288_Gln291dup)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.836_837del (p.Gln279fs)
|
rs587780429
|
|
|
NM_030665.4(RAI1):c.838_839insCAGCAG (p.Gln280delinsProAlaGlu)
|
rs1555565014
|
|
|
NM_030665.4(RAI1):c.980C>G (p.Ala327Gly)
|
rs1555565043
|
|
|
NM_030773.4(TUBB1):c.155A>T (p.Asn52Ile)
|
|
|
|
NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)
|
rs767380935
|
|
|
NM_030773.4(TUBB1):c.230G>A (p.Arg77Gln)
|
rs572988631
|
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
|
NM_030773.4(TUBB1):c.976G>T (p.Val326Leu)
|
rs2146377607
|
|
|
NM_030928.4(CDT1):c.1030G>A (p.Glu344Lys)
|
rs587780303
|
|
|
NM_030928.4(CDT1):c.1196T>C (p.Leu399Pro)
|
rs768108309
|
|
|
NM_030928.4(CDT1):c.1322G>A (p.Cys441Tyr)
|
rs577749423
|
|
|
NM_030928.4(CDT1):c.1377C>T (p.Arg459=)
|
rs3218730
|
|
|
NM_030928.4(CDT1):c.832+1G>A
|
rs587780305
|
|
|
NM_030962.4(SBF2):c.1110T>C (p.Tyr370=)
|
rs201361655
|
|
|
NM_030962.4(SBF2):c.3041C>G (p.Ala1014Gly)
|
rs560152920
|
|
|
NM_030962.4(SBF2):c.455T>G (p.Leu152Trp)
|
rs1554990623
|
|
|
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)
|
rs572571832
|
|
|
NM_030962.4(SBF2):c.5043A>G (p.Gln1681=)
|
rs779654145
|
|
|
NM_030962.4(SBF2):c.5169T>C (p.Asn1723=)
|
rs1452599195
|
|
|
NM_030962.4(SBF2):c.873C>T (p.Ile291=)
|
rs2134496815
|
|
|
NM_031407.7(HUWE1):c.1115A>T (p.Asp372Val)
|
rs797045617
|
|
|
NM_031407.7(HUWE1):c.12245G>A (p.Arg4082His)
|
rs797045618
|
|
|
NM_031407.7(HUWE1):c.12275C>A (p.Thr4092Asn)
|
rs587780358
|
|
|
NM_031407.7(HUWE1):c.12831+8G>A
|
rs797045619
|
|
|
NM_031407.7(HUWE1):c.12903= (p.Thr4301=)
|
rs477171
|
|
|
NM_031407.7(HUWE1):c.1885C>T (p.Arg629Cys)
|
rs797045620
|
|
|
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)
|
rs1057520538
|
|
|
NM_031407.7(HUWE1):c.4441C>A (p.Leu1481Met)
|
rs2148411918
|
|
|
NM_031407.7(HUWE1):c.6301C>G (p.Leu2101Val)
|
rs1556954998
|
|
|
NM_031407.7(HUWE1):c.6399C>T (p.Arg2133=)
|
rs2062734039
|
|
|
NM_031407.7(HUWE1):c.645+1G>T
|
rs797045621
|
|
|
NM_031407.7(HUWE1):c.7317GGAAGATGA[1] (p.2439EED[1])
|
rs781889045
|
|
|
NM_031407.7(HUWE1):c.7736+9C>T
|
rs1556939479
|
|
|
NM_031407.7(HUWE1):c.9468_9470del (p.Gly3157del)
|
rs782375893
|
|
|
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter)
|
rs1064797235
|
|
|
NM_031448.6(C19orf12):c.225_226delinsTGGAGGAACAGT (p.Gln75fs)
|
rs797045423
|
|
|
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter)
|
rs1555714808
|
|
|
NM_031466.8(TRAPPC9):c.-219G>A
|
rs750200775
|
|
|
NM_031466.8(TRAPPC9):c.-244C>T
|
rs1334808447
|
|
|
NM_031844.3(HNRNPU):c.664G>A (p.Gly222Ser)
|
rs1553283807
|
|
|
NM_031885.5(BBS2):c.132T>A (p.Asn44Lys)
|
rs1555523987
|
|
|
NM_032043.3(BRIP1):c.*2813_*2815A[5]GAAA[1]
|
rs1555571892
|
|
|
NM_032043.3(BRIP1):c.1141-9A>G
|
rs1555607258
|
|
|
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn)
|
rs1354610577
|
|
|
NM_032043.3(BRIP1):c.1850T>C (p.Leu617Ser)
|
rs1064794095
|
|
|
NM_032043.3(BRIP1):c.1936-1G>A
|
rs1555601204
|
|
|
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
|
|
|
|
NM_032043.3(BRIP1):c.2232C>G (p.Asp744Glu)
|
rs374362388
|
|
|
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2447G>T (p.Trp816Leu)
|
rs786204250
|
|
|
NM_032043.3(BRIP1):c.2684C>A (p.Ser895Tyr)
|
rs1555573437
|
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
|
NM_032043.3(BRIP1):c.2906-61A>G
|
rs797045415
|
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
|
NM_032043.3(BRIP1):c.611_613del (p.Ser204del)
|
rs1060501731
|
|
|
NM_032043.3(BRIP1):c.774G>A (p.Gln258=)
|
rs1198536492
|
|
|
NM_032110.3(DMRTA2):c.1166CCG[7] (p.Ala396_Ala397del)
|
rs4027495
|
|
|
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=)
|
rs41311745
|
|
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352
|
|
|
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)
|
rs111033452
|
|
|
NM_032119.4(ADGRV1):c.7945+27C>A
|
rs10068473
|
|
|
NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs)
|
rs752074481
|
|
|
NM_032122.5(DTNBP1):c.355+10A>C
|
rs368923800
|
|
|
NM_032122.5(DTNBP1):c.476A>C (p.Lys159Thr)
|
rs2113702060
|
|
|
NM_032122.5(DTNBP1):c.489-9_489-8dup
|
rs199770715
|
|
|
NM_032153.6(ZIC4):c.966G>C (p.Ser322=)
|
rs17509456
|
|
|
NM_032322.4(RNF135):c.356_357delinsAA (p.Arg119Gln)
|
rs797045917
|
|
|
NM_032382.5(COG8):c.1364_1371del (p.Val455fs)
|
rs2143345233
|
|
|
NM_032383.5(HPS3):c.124G>C (p.Glu42Gln)
|
rs1553750097
|
|
|
NM_032387.5(WNK4):c.3182G>C (p.Gly1061Ala)
|
|
|
|
NM_032415.7(CARD11):c.1535C>G (p.Ser512Cys)
|
rs1562488034
|
|
|
NM_032415.7(CARD11):c.2395G>A (p.Asp799Asn)
|
rs587778152
|
|
|
NM_032415.7(CARD11):c.3127G>T (p.Glu1043Ter)
|
rs757553187
|
|
|
NM_032444.4(SLX4):c.107A>T (p.Glu36Val)
|
rs370082083
|
|
|
NM_032444.4(SLX4):c.1141AGC[2] (p.Ser383del)
|
rs938490986
|
|
|
NM_032444.4(SLX4):c.1163+10C>G
|
rs80116508
|
|
|
NM_032444.4(SLX4):c.1405C>T (p.Pro469Ser)
|
rs763833617
|
|
|
NM_032444.4(SLX4):c.1511C>G (p.Pro504Arg)
|
rs569591337
|
|
|
NM_032444.4(SLX4):c.1569T>C (p.Pro523=)
|
rs2151131241
|
|
|
NM_032444.4(SLX4):c.1672C>A (p.Arg558=)
|
rs372264472
|
|
|
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp)
|
rs372264472
|
|
|
NM_032444.4(SLX4):c.1732G>C (p.Glu578Gln)
|
rs1202254236
|
|
|
NM_032444.4(SLX4):c.1799C>A (p.Pro600Gln)
|
rs749277750
|
|
|
NM_032444.4(SLX4):c.1929G>C (p.Leu643Phe)
|
|
|
|
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser)
|
rs571330689
|
|
|
NM_032444.4(SLX4):c.2336T>C (p.Val779Ala)
|
rs1555450482
|
|
|
NM_032444.4(SLX4):c.2615G>A (p.Gly872Asp)
|
|
|
|
NM_032444.4(SLX4):c.3122A>G (p.Gln1041Arg)
|
rs1384033342
|
|
|
NM_032444.4(SLX4):c.3209C>G (p.Ser1070Cys)
|
rs2040570774
|
|
|
NM_032444.4(SLX4):c.32G>T (p.Gly11Val)
|
rs1555452514
|
|
|
NM_032444.4(SLX4):c.3621A>C (p.Pro1207=)
|
rs1436426423
|
|
|
NM_032444.4(SLX4):c.3900A>G (p.Glu1300=)
|
rs1060504341
|
|
|
NM_032444.4(SLX4):c.3902G>T (p.Gly1301Val)
|
rs1307466531
|
|
|
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)
|
rs142205392
|
|
|
NM_032444.4(SLX4):c.4134G>C (p.Pro1378=)
|
rs760757846
|
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
|
NM_032444.4(SLX4):c.422G>C (p.Gly141Ala)
|
rs77306735
|
|
|
NM_032444.4(SLX4):c.4374G>A (p.Met1458Ile)
|
rs1168844302
|
|
|
NM_032444.4(SLX4):c.4465C>G (p.Gln1489Glu)
|
rs2151121176
|
|
|
NM_032444.4(SLX4):c.4546G>C (p.Gly1516Arg)
|
rs775915651
|
|
|
NM_032444.4(SLX4):c.4596C>T (p.Ser1532=)
|
rs527733303
|
|
|
NM_032444.4(SLX4):c.4808_4809delinsCT (p.His1603Pro)
|
|
|
|
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu)
|
rs776018346
|
|
|
NM_032444.4(SLX4):c.5262G>A (p.Glu1754=)
|
rs1158728649
|
|
|
NM_032444.4(SLX4):c.577T>C (p.Leu193=)
|
rs760477564
|
|
|
NM_032444.4(SLX4):c.822G>C (p.Gln274His)
|
rs1367038373
|
|
|
NM_032444.4(SLX4):c.951-1G>T
|
rs750371433
|
|
|
NM_032531.4(KIRREL3):c.1039G>A (p.Asp347Asn)
|
rs2134196562
|
|
|
NM_032531.4(KIRREL3):c.103G>A (p.Ala35Thr)
|
rs549320678
|
|
|
NM_032531.4(KIRREL3):c.1217G>A (p.Gly406Glu)
|
rs1955736095
|
|
|
NM_032531.4(KIRREL3):c.1500G>C (p.Thr500=)
|
rs186782738
|
|
|
NM_032531.4(KIRREL3):c.655G>A (p.Val219Met)
|
rs200789628
|
|
|
NM_032531.4(KIRREL3):c.669G>A (p.Gln223=)
|
rs1473256132
|
|
|
NM_032551.5(KISS1R):c.1065C>G (p.Asp355Glu)
|
|
|
|
NM_032638.5(GATA2):c.-120C>G
|
rs2107678029
|
|
|
NM_032638.5(GATA2):c.1017+525C>T
|
rs916833024
|
|
|
NM_032638.5(GATA2):c.1017+530C>T
|
rs2107669883
|
|
|
NM_032638.5(GATA2):c.1017+572C>T
|
rs1559985787
|
|
|
NM_032638.5(GATA2):c.1018-5C>G
|
rs769196688
|
|
|
NM_032638.5(GATA2):c.1035C>T (p.Ala345=)
|
rs371599112
|
|
|
NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser)
|
rs1559985135
|
|
|
NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg)
|
rs797045591
|
|
|
NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly)
|
rs1426175410
|
|
|
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)
|
rs1553770510
|
|
|
NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp)
|
rs2107668593
|
|
|
NM_032638.5(GATA2):c.1161C>A (p.Thr387=)
|
rs775990572
|
|
|
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp)
|
rs1576744529
|
|
|
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)
|
rs387906629
|
|
|
NM_032638.5(GATA2):c.1371G>A (p.Thr457=)
|
rs763539605
|
|
|
NM_032638.5(GATA2):c.1407C>A (p.His469Gln)
|
rs772050518
|
|
|
NM_032638.5(GATA2):c.230-12_230-9del
|
rs760230147
|
|
|
NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val)
|
rs1060500084
|
|
|
NM_032638.5(GATA2):c.331CAC[2] (p.His113del)
|
rs777017660
|
|
|
NM_032638.5(GATA2):c.346_351del (p.Trp116_Thr117del)
|
rs2107672791
|
|
|
NM_032638.5(GATA2):c.437del (p.Gly146fs)
|
rs2107672654
|
|
|
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer)
|
rs768767517
|
|
|
NM_032638.5(GATA2):c.706A>G (p.Met236Val)
|
rs746737860
|
|
|
NM_032638.5(GATA2):c.774C>G (p.His258Gln)
|
rs1353328065
|
|
|
NM_032638.5(GATA2):c.802G>A (p.Gly268Arg)
|
|
|
|
NM_032638.5(GATA2):c.857C>T (p.Ala286Val)
|
rs797045592
|
|
|
NM_032638.5(GATA2):c.872-5T>G
|
rs886038417
|
|
|
NM_032638.5(GATA2):c.942C>T (p.Tyr314=)
|
rs2107670420
|
|
|
NM_032638.5(GATA2):c.995_996insG (p.Ile333fs)
|
rs2107670326
|
|
|
NM_032656.4(DHX37):c.461G>A (p.Arg154His)
|
|
|
|
NM_032730.5(RTN4IP1):c.104_117delinsGAAGGATT (p.Thr35_Arg39delinsArgArgIle)
|
rs2114690778
|
|
|
NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr)
|
rs760189690
|
|
|
NM_032737.4(LMNB2):c.391G>T (p.Val131Phe)
|
rs587780381
|
|
|
NM_032737.4(LMNB2):c.402C>T (p.Ser134=)
|
rs148213507
|
|
|
NM_032793.5(MFSD2A):c.1269C>T (p.Thr423=)
|
rs760916510
|
|
|
NM_032793.5(MFSD2A):c.1360G>A (p.Gly454Arg)
|
rs765002730
|
|
|
NM_032806.6(POMGNT2):c.1180C>T (p.Arg394Trp)
|
rs146126985
|
|
|
NM_032806.6(POMGNT2):c.1540T>C (p.Tyr514His)
|
rs1553618183
|
|
|
NM_032806.6(POMGNT2):c.39G>C (p.Ser13=)
|
rs59831271
|
|
|
NM_032806.6(POMGNT2):c.582G>T (p.Met194Ile)
|
rs1452053627
|
|
|
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter)
|
rs1553618354
|
|
|
NM_032977.4(CASP10):c.1249C>T (p.Leu417=)
|
rs2126048239
|
|
|
NM_033022.4(RPS24):c.49C>T (p.Leu17=)
|
rs2131976175
|
|
|
NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln)
|
rs1478448702
|
|
|
NM_033064.5(ATCAY):c.903C>G (p.Ser301Arg)
|
rs2145256501
|
|
|
NM_033064.5(ATCAY):c.965+3G>T
|
rs2038943096
|
|
|
NM_033163.5(FGF8):c.261C>G (p.Ser87Arg)
|
rs1554834876
|
|
|
NM_033163.5(FGF8):c.628_629dup (p.His211fs)
|
rs1554834303
|
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|
|
NM_052867.4(NALCN):c.1631T>C (p.Phe544Ser)
|
rs2140005193
|
|
|
NM_052989.3(IFT122):c.495G>A (p.Glu165=)
|
rs1279604454
|
|
|
NM_058004.4(PI4KA):c.24AGGCGG[3] (p.Gly17_Gly18del)
|
rs532050128
|
|
|
NM_058004.4(PI4KA):c.24AGGCGG[5] (p.Gly18_Cys19insGlyGly)
|
rs532050128
|
|
|
NM_058004.4(PI4KA):c.42_53del (p.Gly15_Gly18del)
|
rs551553536
|
|
|
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)
|
rs545024029
|
|
|
NM_058216.3(RAD51C):c.337G>C (p.Gly113Arg)
|
rs2047954842
|
|
|
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu)
|
rs863224806
|
|
|
NM_080632.3(UPF3B):c.121G>A (p.Asp41Asn)
|
rs1556384218
|
|
|
NM_080632.3(UPF3B):c.263+7_263+18dup
|
rs55712755
|
|
|
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter)
|
rs587784534
|
|
|
NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter)
|
rs587784508
|
|
|
NM_130839.5(UBE3A):c.1170_1173del (p.Asn390fs)
|
rs587784509
|
|
|
NM_130839.5(UBE3A):c.1185A>T (p.Glu395Asp)
|
rs114056442
|
|
|
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs)
|
rs587784512
|
|
|
NM_130839.5(UBE3A):c.1521_1528del (p.Tyr508fs)
|
rs587784513
|
|
|
NM_130839.5(UBE3A):c.1597dup (p.Ala533fs)
|
rs587781204
|
|
|
NM_130839.5(UBE3A):c.1599A>G (p.Ala533=)
|
rs1447040234
|
|
|
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=)
|
rs1057523671
|
|
|
NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter)
|
rs587784514
|
|
|
NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter)
|
rs587784515
|
|
|
NM_130839.5(UBE3A):c.1675G>C (p.Glu559Gln)
|
rs2152730149
|
|
|
NM_130839.5(UBE3A):c.1687G>T (p.Asp563Tyr)
|
rs2152730118
|
|
|
NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu)
|
rs587784516
|
|
|
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser)
|
rs587784517
|
|
|
NM_130839.5(UBE3A):c.1748A>G (p.Asp583Gly)
|
rs587784518
|
|
|
NM_130839.5(UBE3A):c.1786_1790del (p.Phe596fs)
|
rs587784519
|
|
|
NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter)
|
rs587781208
|
|
|
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)
|
rs587781234
|
|
|
NM_130839.5(UBE3A):c.1823A>G (p.Gln608Arg)
|
rs587782919
|
|
|
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs)
|
rs587784520
|
|
|
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser)
|
rs587784521
|
|
|
NM_130839.5(UBE3A):c.1937G>C (p.Arg646Pro)
|
rs374601913
|
|
|
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp)
|
rs587784523
|
|
|
NM_130839.5(UBE3A):c.2238dup (p.Phe747fs)
|
rs797046085
|
|
|
NM_130839.5(UBE3A):c.2280G>C (p.Arg760=)
|
rs587784525
|
|
|
NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter)
|
rs587781220
|
|
|
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter)
|
rs111033595
|
|
|
NM_130839.5(UBE3A):c.2376T>C (p.His792=)
|
rs2152515457
|
|
|
NM_130839.5(UBE3A):c.2397_2400dup (p.Leu801fs)
|
rs797046086
|
|
|
NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del)
|
rs587781238
|
|
|
NM_130839.5(UBE3A):c.2523_2566dup (p.Lys856fs)
|
rs587781230
|
|
|
NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His)
|
rs587784526
|
|
|
NM_130839.5(UBE3A):c.2562dup (p.Leu855fs)
|
rs797046087
|
|
|
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe)
|
rs587783097
|
|
|
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs)
|
rs1555379800
|
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
|
|
|
NM_130839.5(UBE3A):c.2607dup (p.Gly870fs)
|
rs797046088
|
|
|
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp)
|
rs587784528
|
|
|
NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?)
|
rs587781232
|
|
|
NM_130839.5(UBE3A):c.328A>G (p.Met110Val)
|
rs369853017
|
|
|
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer)
|
rs587780570
|
|
|
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys)
|
rs587781241
|
|
|
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs)
|
rs587784529
|
|
|
NM_130839.5(UBE3A):c.440del (p.Ile147fs)
|
rs587784530
|
|
|
NM_130839.5(UBE3A):c.448_459del (p.Ile150_Val153del)
|
rs587784531
|
|
|
NM_130839.5(UBE3A):c.458T>G (p.Val153Gly)
|
rs587782915
|
|
|
NM_130839.5(UBE3A):c.463dup (p.Ser155fs)
|
rs587780572
|
|
|
NM_130839.5(UBE3A):c.565_571del (p.Glu189fs)
|
rs587784532
|
|
|
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr)
|
rs147145506
|
|
|
NM_130839.5(UBE3A):c.62+1_62+2insAA
|
rs797046084
|
|
|
NM_130839.5(UBE3A):c.659A>C (p.Asn220Thr)
|
rs528422241
|
|
|
NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter)
|
rs587784533
|
|
|
NM_130839.5(UBE3A):c.900_912delinsC (p.Glu300_Pro304delinsAsp)
|
rs797046089
|
|
|
NM_130839.5(UBE3A):c.936G>A (p.Lys312=)
|
rs867585000
|
|
|
NM_133259.4(LRPPRC):c.1678-1G>A
|
rs1351402169
|
|
|
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
|
|
|
|
NM_133433.4(NIPBL):c.*84del
|
rs587783876
|
|
|
NM_133433.4(NIPBL):c.*84dup
|
rs587783876
|
|
|
NM_133433.4(NIPBL):c.1003del (p.Glu335fs)
|
rs587783877
|
|
|
NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs)
|
rs587783878
|
|
|
NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter)
|
rs587783879
|
|
|
NM_133433.4(NIPBL):c.1086_1087del (p.Arg364fs)
|
rs587783880
|
|
|
NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter)
|
rs797045745
|
|
|
NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter)
|
rs587783882
|
|
|
NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter)
|
rs587783883
|
|
|
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)
|
rs80358367
|
|
|
NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter)
|
rs587783884
|
|
|
NM_133433.4(NIPBL):c.1445_1448del (p.Arg482fs)
|
rs80358382
|
|
|
NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs)
|
rs80358382
|
|
|
NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs)
|
rs797045746
|
|
|
NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter)
|
rs587783886
|
|
|
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu)
|
rs587783887
|
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
|
NM_133433.4(NIPBL):c.1496-8A>G
|
rs797045747
|
|
|
NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs)
|
rs587783888
|
|
|
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter)
|
rs587783889
|
|
|
NM_133433.4(NIPBL):c.1753del (p.Ile585fs)
|
rs587783891
|
|
|
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter)
|
rs587783892
|
|
|
NM_133433.4(NIPBL):c.192del (p.Gln64fs)
|
rs80358364
|
|
|
NM_133433.4(NIPBL):c.1992dup (p.Glu665fs)
|
rs797045748
|
|
|
NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del)
|
rs587783893
|
|
|
NM_133433.4(NIPBL):c.2046del (p.Lys682fs)
|
rs587783894
|
|
|
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro)
|
rs587783895
|
|
|
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter)
|
rs587783896
|
|
|
NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs)
|
rs587783897
|
|
|
NM_133433.4(NIPBL):c.2108del (p.Pro703fs)
|
rs587783897
|
|
|
NM_133433.4(NIPBL):c.212_213dup (p.Val72fs)
|
rs797045749
|
|
|
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter)
|
rs587783899
|
|
|
NM_133433.4(NIPBL):c.2325A>G (p.Lys775=)
|
rs587783900
|
|
|
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter)
|
rs587783901
|
|
|
NM_133433.4(NIPBL):c.2394_2397dup (p.Ala800Ter)
|
rs797045750
|
|
|
NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter)
|
rs587783902
|
|
|
NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs)
|
rs1554017345
|
|
|
NM_133433.4(NIPBL):c.2464del (p.Gln822fs)
|
rs797045751
|
|
|
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu)
|
rs587783904
|
|
|
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)
|
rs398124465
|
|
|
NM_133433.4(NIPBL):c.2489C>G (p.Ser830Ter)
|
rs587783905
|
|
|
NM_133433.4(NIPBL):c.2494C>T (p.Arg832Ter)
|
rs587783906
|
|
|
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter)
|
rs587783907
|
|
|
NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter)
|
rs797045752
|
|
|
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu)
|
rs80358365
|
|
|
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)
|
rs398124466
|
|
|
NM_133433.4(NIPBL):c.2711del (p.Arg904fs)
|
rs587783909
|
|
|
NM_133433.4(NIPBL):c.2773_2774del (p.Lys925fs)
|
rs587783910
|
|
|
NM_133433.4(NIPBL):c.2832T>A (p.Tyr944Ter)
|
rs587783911
|
|
|
NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs)
|
rs797045753
|
|
|
NM_133433.4(NIPBL):c.2903del (p.Asn968fs)
|
rs587783912
|
|
|
NM_133433.4(NIPBL):c.2965dup (p.Ile989fs)
|
rs797045754
|
|
|
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)
|
rs587783914
|
|
|
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala)
|
rs587783915
|
|
|
NM_133433.4(NIPBL):c.3107C>G (p.Ser1036Ter)
|
rs1554017661
|
|
|
NM_133433.4(NIPBL):c.310_317del (p.Pro104fs)
|
rs587783917
|
|
|
NM_133433.4(NIPBL):c.3122-2A>G
|
rs587783918
|
|
|
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter)
|
rs1554019663
|
|
|
NM_133433.4(NIPBL):c.314dup (p.Asn105fs)
|
rs797045755
|
|
|
NM_133433.4(NIPBL):c.3264del (p.Ser1089fs)
|
rs797045756
|
|
|
NM_133433.4(NIPBL):c.3304+5G>A
|
rs80358356
|
|
|
NM_133433.4(NIPBL):c.3305-1G>T
|
rs80358375
|
|
|
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter)
|
rs587783919
|
|
|
NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln)
|
rs587783921
|
|
|
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter)
|
rs80358374
|
|
|
NM_133433.4(NIPBL):c.345A>G (p.Arg115=)
|
rs587783922
|
|
|
NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer)
|
rs587783923
|
|
|
NM_133433.4(NIPBL):c.3503-9T>G
|
rs587783924
|
|
|
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs)
|
rs587783925
|
|
|
NM_133433.4(NIPBL):c.3575-3C>G
|
rs587783926
|
|
|
NM_133433.4(NIPBL):c.358+1G>T
|
rs587783927
|
|
|
NM_133433.4(NIPBL):c.358+5G>C
|
rs587783928
|
|
|
NM_133433.4(NIPBL):c.3616A>G (p.Ile1206Val)
|
rs587783929
|
|
|
NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter)
|
rs1554020997
|
|
|
NM_133433.4(NIPBL):c.3709C>T (p.Gln1237Ter)
|
rs2149672495
|
|
|
NM_133433.4(NIPBL):c.3747A>G (p.Lys1249=)
|
rs2149672538
|
|
|
NM_133433.4(NIPBL):c.3788_3789del (p.Val1263fs)
|
rs587783930
|
|
|
NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del)
|
rs587783931
|
|
|
NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser)
|
rs587783932
|
|
|
NM_133433.4(NIPBL):c.3855+1G>T
|
rs587783933
|
|
|
NM_133433.4(NIPBL):c.3855+2T>C
|
rs886043046
|
|
|
NM_133433.4(NIPBL):c.3855+5G>A
|
rs80358378
|
|
|
NM_133433.4(NIPBL):c.3856-12A>C
|
rs199847583
|
|
|
NM_133433.4(NIPBL):c.3856-7_3856-5del
|
rs797045757
|
|
|
NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs)
|
rs587783934
|
|
|
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter)
|
rs587783936
|
|
|
NM_133433.4(NIPBL):c.3G>T (p.Met1Ile)
|
rs587783937
|
|
|
NM_133433.4(NIPBL):c.4017C>A (p.Tyr1339Ter)
|
rs587783938
|
|
|
NM_133433.4(NIPBL):c.4088-2A>T
|
rs587783939
|
|
|
NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs)
|
rs587783940
|
|
|
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs)
|
rs587783941
|
|
|
NM_133433.4(NIPBL):c.4240-1G>C
|
rs587783942
|
|
|
NM_133433.4(NIPBL):c.4240-7T>C
|
rs587783943
|
|
|
NM_133433.4(NIPBL):c.4275_4287del (p.Glu1425fs)
|
rs587783944
|
|
|
NM_133433.4(NIPBL):c.4285_4294del (p.Glu1429fs)
|
rs80358386
|
|
|
NM_133433.4(NIPBL):c.4320+1G>A
|
rs587783945
|
|
|
NM_133433.4(NIPBL):c.4320+2dup
|
rs797045758
|
|
|
NM_133433.4(NIPBL):c.4321-15A>G
|
rs587783946
|
|
|
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr)
|
rs587783947
|
|
|
NM_133433.4(NIPBL):c.4422-12del
|
rs797045759
|
|
|
NM_133433.4(NIPBL):c.4422G>T (p.Arg1474Ser)
|
rs80358358
|
|
|
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)
|
rs587783948
|
|
|
NM_133433.4(NIPBL):c.4495C>T (p.Gln1499Ter)
|
rs797045760
|
|
|
NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter)
|
rs80358369
|
|
|
NM_133433.4(NIPBL):c.4529dup (p.Asp1510fs)
|
rs797045761
|
|
|
NM_133433.4(NIPBL):c.4532_4533del (p.Asp1510_Ser1511insTer)
|
rs797045762
|
|
|
NM_133433.4(NIPBL):c.4535A>T (p.Asn1512Ile)
|
rs587783949
|
|
|
NM_133433.4(NIPBL):c.4543G>T (p.Glu1515Ter)
|
rs587783950
|
|
|
NM_133433.4(NIPBL):c.456del (p.Ser153fs)
|
rs587783951
|
|
|
NM_133433.4(NIPBL):c.458+1_458+2dup
|
rs797045763
|
|
|
NM_133433.4(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528fs)
|
rs797045764
|
|
|
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter)
|
rs587783952
|
|
|
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter)
|
rs121918269
|
|
|
NM_133433.4(NIPBL):c.4636del (p.Lys1548fs)
|
rs587783953
|
|
|
NM_133433.4(NIPBL):c.4643+1G>C
|
rs587783954
|
|
|
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs)
|
rs587783955
|
|
|
NM_133433.4(NIPBL):c.4674C>T (p.Tyr1558=)
|
rs587783956
|
|
|
NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs)
|
rs587783957
|
|
|
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter)
|
rs77632238
|
|
|
NM_133433.4(NIPBL):c.4773G>T (p.Leu1591=)
|
rs587783958
|
|
|
NM_133433.4(NIPBL):c.4776+4A>G
|
rs797045765
|
|
|
NM_133433.4(NIPBL):c.4806_4807del (p.Glu1602fs)
|
rs80358372
|
|
|
NM_133433.4(NIPBL):c.4810_4817dup (p.Arg1606_Val1607insLeuTer)
|
rs2149692104
|
|
|
NM_133433.4(NIPBL):c.4818_4819del (p.Arg1606fs)
|
rs587783959
|
|
|
NM_133433.4(NIPBL):c.4893dup (p.Gly1632fs)
|
rs797045766
|
|
|
NM_133433.4(NIPBL):c.4965_4972del (p.Asp1657fs)
|
rs797045767
|
|
|
NM_133433.4(NIPBL):c.4988_4991dup (p.Glu1664delinsAspTer)
|
rs797045768
|
|
|
NM_133433.4(NIPBL):c.5033_5039del (p.Ala1678fs)
|
rs587783960
|
|
|
NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter)
|
rs797045769
|
|
|
NM_133433.4(NIPBL):c.5046_5047insTG (p.Asp1683fs)
|
rs797045770
|
|
|
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter)
|
rs121918267
|
|
|
NM_133433.4(NIPBL):c.5174del (p.Lys1725fs)
|
rs587783961
|
|
|
NM_133433.4(NIPBL):c.5225+13G>A
|
rs587783963
|
|
|
NM_133433.4(NIPBL):c.5226-14A>G
|
rs587783964
|
|
|
NM_133433.4(NIPBL):c.5272C>A (p.Arg1758=)
|
rs587783965
|
|
|
NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu)
|
rs587783966
|
|
|
NM_133433.4(NIPBL):c.5328+1G>A
|
rs587783967
|
|
|
NM_133433.4(NIPBL):c.5329-15A>G
|
rs587783968
|
|
|
NM_133433.4(NIPBL):c.5329-1G>C
|
rs587783969
|
|
|
NM_133433.4(NIPBL):c.5330T>G (p.Ile1777Ser)
|
rs587783970
|
|
|
NM_133433.4(NIPBL):c.5335C>T (p.Arg1779Ter)
|
rs587783971
|
|
|
NM_133433.4(NIPBL):c.5365C>T (p.Arg1789Ter)
|
rs587783972
|
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
|
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs)
|
rs587783973
|
|
|
NM_133433.4(NIPBL):c.5428-2A>G
|
rs587783974
|
|
|
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter)
|
rs80358362
|
|
|
NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter)
|
rs587783975
|
|
|
NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln)
|
rs80358366
|
|
|
NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr)
|
rs587783976
|
|
|
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly)
|
rs587783977
|
|
|
NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter)
|
rs62654864
|
|
|
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln)
|
rs587783978
|
|
|
NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly)
|
rs80358373
|
|
|
NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs)
|
rs797045771
|
|
|
NM_133433.4(NIPBL):c.5679dup (p.Arg1894fs)
|
rs797045772
|
|
|
NM_133433.4(NIPBL):c.5709+1G>A
|
rs587783979
|
|
|
NM_133433.4(NIPBL):c.5709+2T>G
|
rs587783980
|
|
|
NM_133433.4(NIPBL):c.5709+7T>G
|
rs587783981
|
|
|
NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro)
|
rs587783982
|
|
|
NM_133433.4(NIPBL):c.5739_5740del (p.Trp1914fs)
|
rs797045773
|
|
|
NM_133433.4(NIPBL):c.5808+1G>A
|
rs587783984
|
|
|
NM_133433.4(NIPBL):c.5822_5834del (p.Arg1941fs)
|
rs2149706056
|
|
|
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter)
|
rs80358360
|
|
|
NM_133433.4(NIPBL):c.5862+1G>A
|
rs587783985
|
|
|
NM_133433.4(NIPBL):c.5863-10_5863-3dup
|
rs1554029659
|
|
|
NM_133433.4(NIPBL):c.5863-12_5863-11insAT
|
rs797045774
|
|
|
NM_133433.4(NIPBL):c.5863-12_5863-11insATAT
|
rs797045774
|
|
|
NM_133433.4(NIPBL):c.5863-31TA[9]
|
rs10554564
|
|
|
NM_133433.4(NIPBL):c.5921TTG[1] (p.Val1975del)
|
rs587783987
|
|
|
NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe)
|
rs587783986
|
|
|
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)
|
rs761030463
|
|
|
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter)
|
rs587783988
|
|
|
NM_133433.4(NIPBL):c.6037A>C (p.Ser2013Arg)
|
rs587783989
|
|
|
NM_133433.4(NIPBL):c.6067C>A (p.His2023Asn)
|
rs587783990
|
|
|
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg)
|
rs587783991
|
|
|
NM_133433.4(NIPBL):c.6071C>A (p.Ala2024Glu)
|
rs587783992
|
|
|
NM_133433.4(NIPBL):c.6087A>G (p.Pro2029=)
|
rs1486059319
|
|
|
NM_133433.4(NIPBL):c.610+1G>A
|
rs587783993
|
|
|
NM_133433.4(NIPBL):c.6108+1G>T
|
rs587783994
|
|
|
NM_133433.4(NIPBL):c.6108+2T>C
|
rs797045775
|
|
|
NM_133433.4(NIPBL):c.6108+7A>G
|
rs587783995
|
|
|
NM_133433.4(NIPBL):c.6145A>G (p.Lys2049Glu)
|
rs587783996
|
|
|
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro)
|
rs587783997
|
|
|
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro)
|
rs587783998
|
|
|
NM_133433.4(NIPBL):c.6182C>T (p.Pro2061Leu)
|
rs587783999
|
|
|
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val)
|
rs587784000
|
|
|
NM_133433.4(NIPBL):c.6249+2dup
|
rs797045776
|
|
|
NM_133433.4(NIPBL):c.6250-6T>C
|
rs587784001
|
|
|
NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu)
|
rs587784002
|
|
|
NM_133433.4(NIPBL):c.6263G>A (p.Cys2088Tyr)
|
rs797045777
|
|
|
NM_133433.4(NIPBL):c.6264_6267del (p.His2087_Cys2088insTer)
|
rs1554031864
|
|
|
NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly)
|
rs587784003
|
|
|
NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu)
|
rs587784004
|
|
|
NM_133433.4(NIPBL):c.6317_6320del (p.Val2106fs)
|
rs587784005
|
|
|
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)
|
rs587784006
|
|
|
NM_133433.4(NIPBL):c.6343+5G>A
|
rs80358383
|
|
|
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser)
|
rs587784007
|
|
|
NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del)
|
rs587784008
|
|
|
NM_133433.4(NIPBL):c.64+1G>A
|
rs587784009
|
|
|
NM_133433.4(NIPBL):c.64+3A>C
|
rs587784010
|
|
|
NM_133433.4(NIPBL):c.64+5G>A
|
rs587784011
|
|
|
NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs)
|
rs1554032085
|
|
|
NM_133433.4(NIPBL):c.65-5A>G
|
rs587784012
|
|
|
NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter)
|
rs587784013
|
|
|
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala)
|
rs587784014
|
|
|
NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter)
|
rs587784015
|
|
|
NM_133433.4(NIPBL):c.6590-2A>C
|
rs587784016
|
|
|
NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu)
|
rs587784017
|
|
|
NM_133433.4(NIPBL):c.6629AAG[1] (p.Glu2211del)
|
rs587784019
|
|
|
NM_133433.4(NIPBL):c.6631G>T (p.Glu2211Ter)
|
rs80358363
|
|
|
NM_133433.4(NIPBL):c.6641_6647del (p.Asn2214fs)
|
rs80358361
|
|
|
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)
|
rs587784020
|
|
|
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del)
|
rs587784022
|
|
|
NM_133433.4(NIPBL):c.6648_6649del (p.Tyr2216_Asn2217delinsTer)
|
rs587784021
|
|
|
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)
|
rs587784023
|
|
|
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs)
|
rs797045778
|
|
|
NM_133433.4(NIPBL):c.6760_6761del (p.Asp2254fs)
|
rs2149737142
|
|
|
NM_133433.4(NIPBL):c.678G>A (p.Pro226=)
|
rs192822119
|
|
|
NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg)
|
rs797045779
|
|
|
NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs)
|
rs797045780
|
|
|
NM_133433.4(NIPBL):c.6892C>G (p.Arg2298Gly)
|
rs80358376
|
|
|
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys)
|
rs80358376
|
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
|
NM_133433.4(NIPBL):c.6935G>T (p.Gly2312Val)
|
rs587784025
|
|
|
NM_133433.4(NIPBL):c.6952C>T (p.Gln2318Ter)
|
rs587784026
|
|
|
NM_133433.4(NIPBL):c.6954+1G>A
|
rs587784027
|
|
|
NM_133433.4(NIPBL):c.6955-9del
|
rs757731487
|
|
|
NM_133433.4(NIPBL):c.7011_7012del (p.Lys2337fs)
|
rs587784029
|
|
|
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)
|
rs587784030
|
|
|
NM_133433.4(NIPBL):c.7024C>T (p.Leu2342Phe)
|
rs587784031
|
|
|
NM_133433.4(NIPBL):c.7062+2T>C
|
rs587784032
|
|
|
NM_133433.4(NIPBL):c.7102C>T (p.Gln2368Ter)
|
rs587784033
|
|
|
NM_133433.4(NIPBL):c.7106del (p.Gln2369fs)
|
rs587784034
|
|
|
NM_133433.4(NIPBL):c.7141G>A (p.Gly2381Ser)
|
rs587784035
|
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
|
NM_133433.4(NIPBL):c.7198del (p.Arg2400fs)
|
rs587784037
|
|
|
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)
|
rs398124471
|
|
|
NM_133433.4(NIPBL):c.7263+4A>C
|
rs797045781
|
|
|
NM_133433.4(NIPBL):c.7264-6T>G
|
rs587784038
|
|
|
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser)
|
rs80358384
|
|
|
NM_133433.4(NIPBL):c.7306G>A (p.Ala2436Thr)
|
rs587784039
|
|
|
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter)
|
rs80358370
|
|
|
NM_133433.4(NIPBL):c.7336_7338del (p.Pro2446del)
|
rs587784040
|
|
|
NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del)
|
rs587784041
|
|
|
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly)
|
rs587784042
|
|
|
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs)
|
rs587784043
|
|
|
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
|
|
|
|
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3])
|
rs587784044
|
|
|
NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp)
|
rs587784045
|
|
|
NM_133433.4(NIPBL):c.7701_7725del (p.Ser2568fs)
|
rs587784047
|
|
|
NM_133433.4(NIPBL):c.771+1G>A
|
rs587784048
|
|
|
NM_133433.4(NIPBL):c.772-1G>A
|
rs587784049
|
|
|
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys)
|
rs80358351
|
|
|
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs)
|
rs80358368
|
|
|
NM_133433.4(NIPBL):c.7806dup (p.Asn2603Ter)
|
rs80358371
|
|
|
NM_133433.4(NIPBL):c.7816dup (p.Ile2606fs)
|
rs797045783
|
|
|
NM_133433.4(NIPBL):c.7841_7842dup (p.Val2615Ter)
|
rs797045784
|
|
|
NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter)
|
rs587784050
|
|
|
NM_133433.4(NIPBL):c.7860+9T>G
|
rs587784051
|
|
|
NM_133433.4(NIPBL):c.7912dup (p.Glu2638fs)
|
rs797045785
|
|
|
NM_133433.4(NIPBL):c.7913dup (p.Val2639fs)
|
rs797045786
|
|
|
NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs)
|
rs587784052
|
|
|
NM_133433.4(NIPBL):c.8173G>C (p.Ala2725Pro)
|
rs587784053
|
|
|
NM_133433.4(NIPBL):c.8225G>T (p.Gly2742Val)
|
rs587784054
|
|
|
NM_133433.4(NIPBL):c.8275_8276dup (p.Val2760fs)
|
rs797045787
|
|
|
NM_133433.4(NIPBL):c.8277_8283del (p.Val2760fs)
|
rs587784055
|
|
|
NM_133433.4(NIPBL):c.8296_8300delinsTT (p.Ile2766_Lys2767delinsLeu)
|
rs797045788
|
|
|
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs)
|
rs587784056
|
|
|
NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met)
|
rs587784057
|
|
|
NM_133433.4(NIPBL):c.8342_8348delinsATT (p.Ala2781fs)
|
rs797045789
|
|
|
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter)
|
rs398124474
|
|
|
NM_133433.4(NIPBL):c.869-1G>A
|
rs587784059
|
|
|
NM_133433.4(NIPBL):c.86del (p.Pro29fs)
|
rs587784060
|
|
|
NM_133433.4(NIPBL):c.87A>G (p.Pro29=)
|
rs587784061
|
|
|
NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter)
|
rs587784062
|
|
|
NM_133433.4(NIPBL):c.892del (p.Gln298fs)
|
rs587784063
|
|
|
NM_133433.4(NIPBL):c.894A>G (p.Gln298=)
|
rs587784064
|
|
|
NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter)
|
rs587784065
|
|
|
NM_133444.3(ZNF526):c.1585C>T (p.Gln529Ter)
|
rs587780525
|
|
|
NM_133444.3(ZNF526):c.1649A>C (p.His550Pro)
|
rs587780523
|
|
|
NM_133444.3(ZNF526):c.1672C>T (p.Arg558Cys)
|
rs776086354
|
|
|
NM_133444.3(ZNF526):c.750_752del (p.Asp250del)
|
rs587780524
|
|
|
NM_133444.3(ZNF526):c.752AGG[1] (p.Glu252del)
|
rs367731450
|
|
|
NM_133444.3(ZNF526):c.756G>A (p.Glu252=)
|
rs569291252
|
|
|
NM_133642.5(LARGE1):c.1452-28C>T
|
rs76647066
|
|
|
NM_133642.5(LARGE1):c.861A>G (p.Pro287=)
|
rs1257326994
|
|
|
NM_138386.3(NAF1):c.*10C>T
|
rs200114417
|
|
|
NM_138386.3(NAF1):c.1033+1G>A
|
|
|
|
NM_138386.3(NAF1):c.1033+1G>T
|
rs2110894530
|
|
|
NM_138386.3(NAF1):c.1462T>C (p.Ser488Pro)
|
|
|
|
NM_138386.3(NAF1):c.241C>G (p.Pro81Ala)
|
rs901206379
|
|
|
NM_138386.3(NAF1):c.264A>G (p.Glu88=)
|
rs2111080851
|
|
|
NM_138386.3(NAF1):c.295C>A (p.Pro99Thr)
|
rs758040980
|
|
|
NM_138386.3(NAF1):c.405T>C (p.Ser135=)
|
rs1732357263
|
|
|
NM_138386.3(NAF1):c.691A>T (p.Lys231Ter)
|
|
|
|
NM_138386.3(NAF1):c.886G>A (p.Gly296Arg)
|
rs2110917190
|
|
|
NM_138387.4(G6PC3):c.1012C>T (p.Gln338Ter)
|
rs889605875
|
|
|
NM_138387.4(G6PC3):c.850A>G (p.Ile284Val)
|
rs2050092821
|
|
|
NM_138422.4(ADAT3):c.436_446del (p.Ala146fs)
|
rs2013518652
|
|
|
NM_138422.4(ADAT3):c.626G>A (p.Arg209Gln)
|
rs751313469
|
|
|
NM_138422.4(ADAT3):c.62C>G (p.Pro21Arg)
|
rs538664300
|
|
|
NM_138422.4(ADAT3):c.716A>C (p.His239Pro)
|
rs1231511320
|
|
|
NM_138422.4(ADAT3):c.862G>A (p.Glu288Lys)
|
rs1208847224
|
|
|
NM_138425.4(C12orf57):c.136_138del (p.Asp46del)
|
rs781925545
|
|
|
NM_138425.4(C12orf57):c.30C>T (p.Ala10=)
|
rs199643110
|
|
|
NM_138425.4(C12orf57):c.52+26_52+54del
|
rs781901992
|
|
|
NM_138425.4(C12orf57):c.76G>A (p.Ala26Thr)
|
rs781935609
|
|
|
NM_138425.4(C12orf57):c.91G>C (p.Glu31Gln)
|
rs797045422
|
|
|
NM_138501.6(TECR):c.15+6_15+8del
|
rs1406228207
|
|
|
NM_138501.6(TECR):c.30C>T (p.Asp10=)
|
rs552540887
|
|
|
NM_138501.6(TECR):c.606+7A>C
|
rs533096070
|
|
|
NM_138501.6(TECR):c.606+8G>A
|
rs551375507
|
|
|
NM_138638.5(CFL2):c.457T>G (p.Leu153Val)
|
rs587780312
|
|
|
NM_138638.5(CFL2):c.74C>G (p.Thr25Arg)
|
rs797045460
|
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
|
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp)
|
rs886061615
|
|
|
NM_138711.6(PPARG):c.1045G>A (p.Glu349Lys)
|
rs1553650533
|
|
|
NM_138711.6(PPARG):c.1183C>T (p.Arg395Cys)
|
rs72551364
|
|
|
NM_138711.6(PPARG):c.1258A>C (p.Lys420Gln)
|
rs587780424
|
|
|
NM_138711.6(PPARG):c.1262T>C (p.Leu421Pro)
|
rs1553653993
|
|
|
NM_138711.6(PPARG):c.1271del (p.Pro424fs)
|
rs770557781
|
|
|
NM_138711.6(PPARG):c.380A>G (p.Glu127Gly)
|
rs1553643326
|
|
|
NM_138711.6(PPARG):c.392G>T (p.Gly131Val)
|
rs1553645235
|
|
|
NM_138711.6(PPARG):c.452G>A (p.Arg151Gln)
|
rs2050121670
|
|
|
NM_138711.6(PPARG):c.491G>A (p.Arg164Gln)
|
rs148195788
|
|
|
NM_138711.6(PPARG):c.520T>C (p.Ser174Pro)
|
rs2125215217
|
|
|
NM_138711.6(PPARG):c.545G>A (p.Arg182Gln)
|
rs1553647989
|
|
|
NM_138711.6(PPARG):c.801C>G (p.Pro267=)
|
rs13306747
|
|
|
NM_138711.6(PPARG):c.881T>C (p.Ile294Thr)
|
rs1378972597
|
|
|
NM_138711.6(PPARG):c.913G>A (p.Val305Ile)
|
rs139894525
|
|
|
NM_138711.6(PPARG):c.920T>C (p.Leu307Pro)
|
rs2125284643
|
|
|
NM_138711.6(PPARG):c.924_928del (p.Asp308fs)
|
rs1553650477
|
|
|
NM_138711.6(PPARG):c.928A>G (p.Asn310Asp)
|
rs1274014409
|
|
|
NM_138711.6(PPARG):c.964G>A (p.Glu322Lys)
|
rs530007199
|
|
|
NM_138927.4(SON):c.4090_4113del (p.Ala1364_Ser1371del)
|
rs779275354
|
|
|
NM_139027.6(ADAMTS13):c.3604T>C (p.Leu1202=)
|
rs1554796106
|
|
|
NM_139058.2(ARX):c.304_305ins21 (p.?)
|
|
|
|
NM_139058.3(ARX):c.1065_1066insCTTGTC (p.Val355_Phe356insLeuVal)
|
rs1556054826
|
|
|
NM_139058.3(ARX):c.1096del (p.Asp366fs)
|
rs797045289
|
|
|
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)
|
rs587783182
|
|
|
NM_139058.3(ARX):c.1120-82_1469dup
|
|
|
|
NM_139058.3(ARX):c.1121T>A (p.Val374Asp)
|
rs587783183
|
|
|
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys)
|
rs587783184
|
|
|
NM_139058.3(ARX):c.1135C>G (p.Arg379Gly)
|
rs1556049714
|
|
|
NM_139058.3(ARX):c.1141del (p.Ala381fs)
|
rs1556049694
|
|
|
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs)
|
rs797045290
|
|
|
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)
|
rs2048682798
|
|
|
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)
|
rs398124508
|
|
|
NM_139058.3(ARX):c.1337dup (p.Pro447fs)
|
rs797045291
|
|
|
NM_139058.3(ARX):c.1372del (p.Ala458fs)
|
rs587783187
|
|
|
NM_139058.3(ARX):c.1400G>T (p.Gly467Val)
|
rs587783188
|
|
|
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter)
|
rs587783189
|
|
|
NM_139058.3(ARX):c.1425T>C (p.Ala475=)
|
rs2147320329
|
|
|
NM_139058.3(ARX):c.1448G>A (p.Arg483Lys)
|
rs587783190
|
|
|
NM_139058.3(ARX):c.1449-82_1469dup
|
rs1556046904
|
|
|
NM_139058.3(ARX):c.1465del (p.Ala489fs)
|
rs587783191
|
|
|
NM_139058.3(ARX):c.1471dup (p.Leu491fs)
|
rs797045292
|
|
|
NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs)
|
rs1556046720
|
|
|
NM_139058.3(ARX):c.1544del (p.Gly515fs)
|
rs587783192
|
|
|
NM_139058.3(ARX):c.172del (p.Ala58fs)
|
rs587783193
|
|
|
NM_139058.3(ARX):c.216C>A (p.Ser72Arg)
|
rs587783195
|
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.335_368del (p.Ala112fs)
|
rs587783199
|
|
|
NM_139058.3(ARX):c.34G>T (p.Glu12Ter)
|
rs587783200
|
|
|
NM_139058.3(ARX):c.409dup (p.Glu137fs)
|
rs797045298
|
|
|
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup)
|
rs1556056131
|
|
|
NM_139058.3(ARX):c.441A>G (p.Ala147=)
|
rs797045301
|
|
|
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)
|
rs398124510
|
|
|
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)
|
rs398124510
|
|
|
NM_139058.3(ARX):c.448GCCGCGGCC[1] (p.Ala153_Ala155del)
|
rs797045302
|
|
|
NM_139058.3(ARX):c.454G>A (p.Ala152Thr)
|
rs587783201
|
|
|
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter)
|
rs797045303
|
|
|
NM_139058.3(ARX):c.613C>T (p.Leu205Phe)
|
rs797045304
|
|
|
NM_139058.3(ARX):c.617del (p.Gly206fs)
|
rs587783202
|
|
|
NM_139058.3(ARX):c.625G>C (p.Gly209Arg)
|
rs587783203
|
|
|
NM_139058.3(ARX):c.651G>T (p.Ala217=)
|
rs587783204
|
|
|
NM_139058.3(ARX):c.747G>A (p.Glu249=)
|
rs797045305
|
|
|
NM_139058.3(ARX):c.851C>A (p.Thr284Lys)
|
rs587783206
|
|
|
NM_139058.3(ARX):c.88G>T (p.Asp30Tyr)
|
rs587783207
|
|
|
NM_139058.3(ARX):c.995G>A (p.Arg332His)
|
rs111033612
|
|
|
NM_139058.3(ARX):c.995G>T (p.Arg332Leu)
|
rs111033612
|
|
|
NM_139058.3(ARX):c.998C>A (p.Thr333Asn)
|
rs104894745
|
|
|
NM_139058.3(ARX):c.998C>G (p.Thr333Ser)
|
rs104894745
|
|
|
NM_139242.4(MTFMT):c.219_222del (p.Glu74fs)
|
rs777725264
|
|
|
NM_139318.5(KCNH5):c.2309C>A (p.Thr770Asn)
|
rs1555351942
|
|
|
NM_139318.5(KCNH5):c.550-9C>G
|
rs374202650
|
|
|
NM_139343.3(BIN1):c.1710C>T (p.Asp570=)
|
rs587783342
|
|
|
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter)
|
rs587783343
|
|
|
NM_139343.3(BIN1):c.957C>A (p.Ala319=)
|
rs2276579
|
|
|
NM_139343.3(BIN1):c.957C>G (p.Ala319=)
|
rs2276579
|
|
|
NM_144508.5(KNL1):c.-2_1del (p.Met1del)
|
rs587780292
|
|
|
NM_144508.5(KNL1):c.221T>C (p.Met74Thr)
|
rs797045428
|
|
|
NM_144508.5(KNL1):c.253A>G (p.Thr85Ala)
|
rs566292216
|
|
|
NM_144508.5(KNL1):c.2784T>C (p.Thr928=)
|
rs587780293
|
|
|
NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs)
|
rs1555420891
|
|
|
NM_144508.5(KNL1):c.4903C>T (p.Leu1635=)
|
rs1216173133
|
|
|
NM_144508.5(KNL1):c.5885_5888del (p.Lys1962fs)
|
rs797045429
|
|
|
NM_144508.5(KNL1):c.6094+4_6094+8del
|
rs587780294
|
|
|
NM_144508.5(KNL1):c.694del (p.Asp232fs)
|
rs797045430
|
|
|
NM_144508.5(KNL1):c.977C>T (p.Thr326Ile)
|
rs1555420295
|
|
|
NM_144596.4(TTC8):c.1185G>C (p.Glu395Asp)
|
rs1375783683
|
|
|
NM_144596.4(TTC8):c.1339G>A (p.Val447Ile)
|
rs769609062
|
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
|
NM_144969.3(ZDHHC15):c.10G>A (p.Gly4Ser)
|
rs797046116
|
|
|
NM_144969.3(ZDHHC15):c.164-8del
|
rs199537523
|
|
|
NM_144969.3(ZDHHC15):c.164-8dup
|
rs199537523
|
|
|
NM_144969.3(ZDHHC15):c.623G>T (p.Arg208Leu)
|
rs377715509
|
|
|
NM_145207.3(AFG2A):c.1630C>G (p.Leu544Val)
|
rs1553958519
|
|
|
NM_145207.3(AFG2A):c.2257C>T (p.Leu753Phe)
|
rs553514469
|
|
|
NM_145207.3(AFG2A):c.2568CAT[1] (p.Ile857del)
|
rs1744021564
|
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
|
NM_152263.4(TPM3):c.734G>T (p.Arg245Ile)
|
rs797046047
|
|
|
NM_152296.5(ATP1A3):c.1004C>A (p.Thr335Lys)
|
rs1131691940
|
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
|
NM_152296.5(ATP1A3):c.1721G>A (p.Cys574Tyr)
|
rs1555862110
|
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
|
NM_152296.5(ATP1A3):c.2401G>C (p.Asp801His)
|
rs80356537
|
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
|
NM_152383.5(DIS3L2):c.*11CCGCCTGCC[4]
|
rs538186468
|
|
|
NM_152383.5(DIS3L2):c.2394+7G>A
|
rs372069869
|
|
|
NM_152384.3(BBS5):c.966dup (p.Ala323fs)
|
rs1553529427
|
|
|
NM_152490.5(B3GALNT2):c.1329G>A (p.Met443Ile)
|
rs2102780504
|
|
|
NM_152490.5(B3GALNT2):c.439G>C (p.Val147Leu)
|
rs143983025
|
|
|
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe)
|
rs535553836
|
|
|
NM_152564.5(VPS13B):c.10478A>G (p.Asp3493Gly)
|
rs587780497
|
|
|
NM_152564.5(VPS13B):c.11275C>G (p.Gln3759Glu)
|
rs797046093
|
|
|
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met)
|
rs574447837
|
|
|
NM_152564.5(VPS13B):c.11831C>A (p.Pro3944His)
|
rs1010334738
|
|
|
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=)
|
rs77759532
|
|
|
NM_152564.5(VPS13B):c.1569A>G (p.Thr523=)
|
rs797046094
|
|
|
NM_152564.5(VPS13B):c.1664A>G (p.Gln555Arg)
|
rs2132580980
|
|
|
NM_152564.5(VPS13B):c.37T>C (p.Tyr13His)
|
rs1310676971
|
|
|
NM_152564.5(VPS13B):c.4550G>T (p.Arg1517Leu)
|
rs531149269
|
|
|
NM_152564.5(VPS13B):c.4633+8C>G
|
rs1554826671
|
|
|
NM_152564.5(VPS13B):c.4874G>T (p.Ser1625Ile)
|
rs1014154776
|
|
|
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly)
|
rs1829392467
|
|
|
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)
|
rs1357171752
|
|
|
NM_152564.5(VPS13B):c.6931A>G (p.Met2311Val)
|
rs797046095
|
|
|
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs)
|
rs1554948192
|
|
|
NM_152564.5(VPS13B):c.723A>C (p.Thr241=)
|
rs778049327
|
|
|
NM_152564.5(VPS13B):c.8320T>C (p.Cys2774Arg)
|
rs1554565672
|
|
|
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val)
|
rs373961820
|
|
|
NM_152564.5(VPS13B):c.8739G>T (p.Gly2913=)
|
rs797046097
|
|
|
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter)
|
rs797046098
|
|
|
NM_152564.5(VPS13B):c.9300A>G (p.Leu3100=)
|
rs143974238
|
|
|
NM_152564.5(VPS13B):c.9614+8A>T
|
rs1554574118
|
|
|
NM_152564.5(VPS13B):c.9868T>C (p.Leu3290=)
|
rs1391149548
|
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
|
NM_152618.3(BBS12):c.787dup (p.Tyr263fs)
|
rs1553941312
|
|
|
NM_152618.3(BBS12):c.940A>G (p.Arg314Gly)
|
rs749107412
|
|
|
NM_152703.5(SAMD9L):c.1524A>G (p.Thr508=)
|
rs1248188387
|
|
|
NM_152703.5(SAMD9L):c.1534C>T (p.Leu512=)
|
rs2116495883
|
|
|
NM_152703.5(SAMD9L):c.1922C>T (p.Ser641Phe)
|
rs2116492212
|
|
|
NM_152703.5(SAMD9L):c.2055A>G (p.Glu685=)
|
rs2116491287
|
|
|
NM_152703.5(SAMD9L):c.2165T>A (p.Ile722Lys)
|
rs561539359
|
|
|
NM_152703.5(SAMD9L):c.2178A>G (p.Ala726=)
|
rs1269419908
|
|
|
NM_152703.5(SAMD9L):c.3054G>A (p.Glu1018=)
|
rs376356072
|
|
|
NM_152703.5(SAMD9L):c.308dup (p.Asn103fs)
|
rs758545647
|
|
|
NM_152703.5(SAMD9L):c.313A>G (p.Lys105Glu)
|
rs2116506527
|
|
|
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys)
|
rs1562789302
|
|
|
NM_152703.5(SAMD9L):c.3394A>C (p.Lys1132Gln)
|
rs2116479679
|
|
|
NM_152703.5(SAMD9L):c.3571A>G (p.Met1191Val)
|
|
|
|
NM_152703.5(SAMD9L):c.3685G>C (p.Val1229Leu)
|
rs372780313
|
|
|
NM_152703.5(SAMD9L):c.3802T>C (p.Phe1268Leu)
|
rs2116475794
|
|
|
NM_152703.5(SAMD9L):c.3888C>G (p.Val1296=)
|
rs2116475113
|
|
|
NM_152703.5(SAMD9L):c.3892C>G (p.Arg1298Gly)
|
rs368520824
|
|
|
NM_152703.5(SAMD9L):c.4098C>T (p.Phe1366=)
|
rs2116473320
|
|
|
NM_152703.5(SAMD9L):c.4224dup (p.Gln1409fs)
|
rs759143613
|
|
|
NM_152703.5(SAMD9L):c.4428C>T (p.Phe1476=)
|
rs778159444
|
|
|
NM_152703.5(SAMD9L):c.4461T>C (p.Ile1487=)
|
rs1792091830
|
|
|
NM_152703.5(SAMD9L):c.4718T>C (p.Ile1573Thr)
|
rs371764964
|
|
|
NM_152703.5(SAMD9L):c.4736A>G (p.Tyr1579Cys)
|
|
|
|
NM_152703.5(SAMD9L):c.69A>G (p.Val23=)
|
|
|
|
NM_152703.5(SAMD9L):c.946T>A (p.Cys316Ser)
|
rs369696372
|
|
|
NM_152722.5(HEPACAM):c.1169_1180del (p.Ser390_Arg393del)
|
rs948072870
|
|
|
NM_152722.5(HEPACAM):c.285T>G (p.Tyr95Ter)
|
rs2135400018
|
|
|
NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile)
|
rs746134081
|
|
|
NM_152743.4(BRAT1):c.1990C>T (p.Gln664Ter)
|
rs2128384174
|
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
|
NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter)
|
rs1554295159
|
|
|
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs)
|
rs797045506
|
|
|
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=)
|
rs375565047
|
|
|
NM_152783.5(D2HGDH):c.1306+2T>C
|
rs797045507
|
|
|
NM_152783.5(D2HGDH):c.202G>A (p.Ala68Thr)
|
rs1553599755
|
|
|
NM_152783.5(D2HGDH):c.293-18A>G
|
rs4073889
|
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
|
NM_153252.5(BRWD3):c.1002A>C (p.Thr334=)
|
rs757676344
|
|
|
NM_153252.5(BRWD3):c.1755T>G (p.Pro585=)
|
rs797045416
|
|
|
NM_153252.5(BRWD3):c.3324A>G (p.Gly1108=)
|
rs372374523
|
|
|
NM_153252.5(BRWD3):c.3541G>A (p.Val1181Ile)
|
rs797045418
|
|
|
NM_153704.6(TMEM67):c.224-4_224-3del
|
rs587779735
|
|
|
NM_153704.6(TMEM67):c.271G>A (p.Gly91Arg)
|
rs797046043
|
|
|
NM_153704.6(TMEM67):c.2806G>A (p.Glu936Lys)
|
rs797046044
|
|
|
NM_153704.6(TMEM67):c.2900A>C (p.Gln967Pro)
|
rs567042904
|
|
|
NM_153704.6(TMEM67):c.758G>A (p.Cys253Tyr)
|
rs765536334
|
|
|
NM_170589.4(KNL1):c.*2_*3ins13
|
|
|
|
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)
|
rs267607644
|
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
|
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)
|
rs267607634
|
|
|
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)
|
rs1553265739
|
|
|
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)
|
rs61672878
|
|
|
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)
|
rs1553265761
|
|
|
NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)
|
rs267607576
|
|
|
NM_170707.4(LMNA):c.1235G>A (p.Gly412Glu)
|
rs1553265847
|
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
|
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)
|
rs61282106
|
|
|
NM_170707.4(LMNA):c.1396A>G (p.Asn466Asp)
|
rs2102893640
|
|
|
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn)
|
rs59981161
|
|
|
NM_170707.4(LMNA):c.1488+5G>C
|
rs267607543
|
|
|
NM_170707.4(LMNA):c.151T>C (p.Ser51Pro)
|
rs1649717627
|
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
|
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)
|
rs57629361
|
|
|
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)
|
rs780302064
|
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
|
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)
|
rs267607547
|
|
|
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)
|
rs61444459
|
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
|
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)
|
rs56793579
|
|
|
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)
|
rs57077886
|
|
|
NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer)
|
rs1553264624
|
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
|
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)
|
rs267607570
|
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
|
NM_170707.4(LMNA):c.790_792del (p.Glu264del)
|
rs1553265369
|
|
|
NM_170707.4(LMNA):c.810+2T>C
|
rs2102882192
|
|
|
NM_170707.4(LMNA):c.810+4C>G
|
rs780196737
|
|
|
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)
|
rs1553265433
|
|
|
NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)
|
rs1553265436
|
|
|
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)
|
rs267607591
|
|
|
NM_170707.4(LMNA):c.908_909del (p.Ser303fs)
|
rs59684335
|
|
|
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro)
|
rs730882262
|
|
|
NM_170707.4(LMNA):c.937-7C>A
|
rs267607681
|
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|
|
NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser)
|
rs144892179
|
|
|
NM_170784.3(MKKS):c.1313G>A (p.Cys438Tyr)
|
rs758821712
|
|
|
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn)
|
rs142327258
|
|
|
NM_170784.3(MKKS):c.1562T>G (p.Val521Gly)
|
rs2064834854
|
|
|
NM_170784.3(MKKS):c.775del (p.Thr259fs)
|
rs759131391
|
|
|
NM_171998.4(RAB39B):c.559G>T (p.Glu187Ter)
|
rs1557314191
|
|
|
NM_172107.4(KCNQ2):c.1197del (p.Ser399fs)
|
rs587780365
|
|
|
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=)
|
rs1801545
|
|
|
NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr)
|
rs587780366
|
|
|
NM_172107.4(KCNQ2):c.388-9C>G
|
rs371784719
|
|
|
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro)
|
rs886041262
|
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
|
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp)
|
rs797044938
|
|
|
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile)
|
rs794727741
|
|
|
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val)
|
rs797045638
|
|
|
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=)
|
rs147882199
|
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
|
NM_173477.5(USH1G):c.1306C>T (p.Arg436Ter)
|
rs755908331
|
|
|
NM_173495.3(PTCHD1):c.1163T>G (p.Ile388Arg)
|
rs1555912675
|
|
|
NM_173495.3(PTCHD1):c.1614C>T (p.Thr538=)
|
rs1317513
|
|
|
NM_173495.3(PTCHD1):c.16C>T (p.Leu6=)
|
rs752692580
|
|
|
NM_173495.3(PTCHD1):c.893G>A (p.Trp298Ter)
|
rs1555912102
|
|
|
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)
|
rs80356538
|
|
|
NM_173543.3(DZIP1L):c.1268_1269del (p.Glu423fs)
|
|
|
|
NM_173543.3(DZIP1L):c.2047G>T (p.Glu683Ter)
|
|
|
|
NM_173546.3(KLHDC8B):c.-9G>T
|
rs2045778895
|
|
|
NM_173546.3(KLHDC8B):c.441G>A (p.Val147=)
|
|
|
|
NM_173546.3(KLHDC8B):c.722G>A (p.Arg241His)
|
|
|
|
NM_173551.5(ANKS6):c.1708T>G (p.Trp570Gly)
|
|
|
|
NM_173560.4(RFX6):c.1782C>T (p.His594=)
|
rs4946206
|
|
|
NM_173560.4(RFX6):c.2078A>G (p.Asn693Ser)
|
|
|
|
NM_173560.4(RFX6):c.2247T>C (p.Tyr749=)
|
|
|
|
NM_173560.4(RFX6):c.541C>T (p.Arg181Trp)
|
rs587780440
|
|
|
NM_173560.4(RFX6):c.644G>A (p.Arg215Lys)
|
rs2114672832
|
|
|
NM_173630.4(RTTN):c.1673C>A (p.Ser558Tyr)
|
rs777233196
|
|
|
NM_173630.4(RTTN):c.2183A>G (p.Asp728Gly)
|
rs370674668
|
|
|
NM_173630.4(RTTN):c.257C>T (p.Ala86Val)
|
rs797045924
|
|
|
NM_173630.4(RTTN):c.2601G>A (p.Val867=)
|
rs2145715138
|
|
|
NM_173630.4(RTTN):c.376T>A (p.Ser126Thr)
|
rs3911730
|
|
|
NM_173630.4(RTTN):c.5185+1G>A
|
rs1555707336
|
|
|
NM_173630.4(RTTN):c.5186-4A>G
|
rs28599773
|
|
|
NM_173630.4(RTTN):c.5743A>C (p.Lys1915Gln)
|
rs2145587107
|
|
|
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs)
|
rs1553850100
|
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
|
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr)
|
rs1553847993
|
|
|
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys)
|
rs150728781
|
|
|
NM_173689.7(CRB2):c.1829G>T (p.Arg610Leu)
|
rs144365725
|
|
|
NM_173689.7(CRB2):c.288C>T (p.Cys96=)
|
|
|
|
NM_173689.7(CRB2):c.3382C>T (p.Arg1128Cys)
|
|
|
|
NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup)
|
rs767432277
|
|
|
NM_174916.3(UBR1):c.1370A>G (p.Asn457Ser)
|
rs1555448026
|
|
|
NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu)
|
rs140816771
|
|
|
NM_175914.4(HNF4A):c.-171A>G
|
rs2146126988
|
|
|
NM_175914.4(HNF4A):c.-197G>A
|
rs2146126951
|
|
|
NM_175914.5(HNF4A):c.1081C>T (p.Pro361Ser)
|
rs761517690
|
|
|
NM_175914.5(HNF4A):c.1229C>A (p.Thr410Asn)
|
rs1313425622
|
|
|
NM_175914.5(HNF4A):c.1270T>C (p.Tyr424His)
|
rs1025249006
|
|
|
NM_175914.5(HNF4A):c.1303G>A (p.Val435Ile)
|
rs145314165
|
|
|
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
|
rs587777732
|
|
|
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
|
|
NM_175914.5(HNF4A):c.224+1G>A
|
rs1600707958
|
|
|
NM_175914.5(HNF4A):c.225-1G>C
|
rs2146375350
|
|
|
NM_175914.5(HNF4A):c.325C>T (p.Gln109Ter)
|
rs2146411947
|
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|
|
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter)
|
rs1555815158
|
|
|
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del)
|
rs1280663753
|
|
|
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter)
|
rs1555815396
|
|
|
NM_175914.5(HNF4A):c.527T>C (p.Leu176Pro)
|
|
|
|
NM_175914.5(HNF4A):c.604G>A (p.Ala202Thr)
|
|
|
|
NM_175914.5(HNF4A):c.614A>C (p.His205Pro)
|
rs2146438016
|
|
|
NM_175914.5(HNF4A):c.617T>A (p.Leu206Gln)
|
rs2146438052
|
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
|
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro)
|
rs1555816654
|
|
|
NM_175914.5(HNF4A):c.742G>T (p.Asp248Tyr)
|
rs2146445464
|
|
|
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)
|
rs1191912908
|
|
|
NM_175914.5(HNF4A):c.932G>T (p.Arg311Leu)
|
|
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|
|
NM_176824.3(BBS7):c.1890+6T>G
|
rs1553930514
|
|
|
NM_176824.3(BBS7):c.1923T>A (p.Phe641Leu)
|
|
|
|
NM_177438.3(DICER1):c.1482G>A (p.Met494Ile)
|
rs1224788557
|
|
|
NM_177438.3(DICER1):c.2296C>A (p.Gln766Lys)
|
|
|
|
NM_177438.3(DICER1):c.3270A>G (p.Arg1090=)
|
rs1262516728
|
|
|
NM_177438.3(DICER1):c.3496G>T (p.Val1166Phe)
|
rs368588781
|
|
|
NM_177438.3(DICER1):c.4806C>T (p.Ala1602=)
|
rs1890302137
|
|
|
NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys)
|
rs1757271243
|
|
|
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu)
|
rs587784498
|
|
|
NM_178012.5(TUBB2B):c.1248C>T (p.Asn416=)
|
rs17145779
|
|
|
NM_178012.5(TUBB2B):c.126G>T (p.Leu42Phe)
|
rs76191712
|
|
|
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)
|
rs797046075
|
|
|
NM_178012.5(TUBB2B):c.424G>A (p.Gly142Ser)
|
rs774873878
|
|
|
NM_178012.5(TUBB2B):c.498C>T (p.Thr166=)
|
rs587784499
|
|
|
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu)
|
rs1554126925
|
|
|
NM_178012.5(TUBB2B):c.523G>A (p.Val175Met)
|
rs1554126924
|
|
|
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met)
|
rs1057520391
|
|
|
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=)
|
rs2259136
|
|
|
NM_178012.5(TUBB2B):c.5G>A (p.Arg2His)
|
rs2113820430
|
|
|
NM_178012.5(TUBB2B):c.673C>T (p.Leu225Phe)
|
rs2113819161
|
|
|
NM_178012.5(TUBB2B):c.859C>T (p.Pro287Ser)
|
rs587784501
|
|
|
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys)
|
rs1554126886
|
|
|
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe)
|
rs587784502
|
|
|
NM_178014.4(TUBB):c.682C>A (p.Leu228Ile)
|
rs1057524718
|
|
|
NM_178014.4(TUBB):c.897G>A (p.Met299Ile)
|
rs2127749712
|
|
|
NM_178151.2(DCX):c.226_234delCGTTTTCGCins2
|
|
|
|
NM_178151.2(DCX):c.367del
|
rs587783545
|
|
|
NM_178161.3(PTF1A):c.532del (p.Ser178fs)
|
rs2131680472
|
|
|
NM_178161.3(PTF1A):c.785-10A>G
|
rs1554799853
|
|
|
NM_178170.3(NEK8):c.618+9A>G
|
|
|
|
NM_181303.2(NLGN3):c.2243G>A (p.Arg748Gln)
|
rs748757954
|
|
|
NM_181303.2(NLGN3):c.2331C>T (p.Ala777=)
|
rs759656254
|
|
|
NM_181303.2(NLGN3):c.652A>C (p.Met218Leu)
|
rs797045793
|
|
|
NM_181303.2(NLGN3):c.981A>G (p.Pro327=)
|
rs797045794
|
|
|
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val)
|
rs201534650
|
|
|
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=)
|
rs3747334
|
|
|
NM_181332.3(NLGN4X):c.54C>T (p.Cys18=)
|
rs587780404
|
|
|
NM_181507.2(HPS5):c.107del (p.Lys36fs)
|
rs1554948134
|
|
|
NM_181507.2(HPS5):c.1175C>G (p.Thr392Ser)
|
rs2134343861
|
|
|
NM_181507.2(HPS5):c.1892T>G (p.Phe631Cys)
|
rs746874798
|
|
|
NM_181523.3(PIK3R1):c.1106C>T (p.Thr369Ile)
|
rs587784325
|
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
|
NM_181523.3(PIK3R1):c.291T>G (p.Val97=)
|
rs751812106
|
|
|
NM_181523.3(PIK3R1):c.406G>A (p.Val136Met)
|
rs539374043
|
|
|
NM_181741.4(ORC4):c.1226del (p.Thr409fs)
|
rs797045852
|
|
|
NM_181741.4(ORC4):c.410C>G (p.Ser137Ter)
|
rs2105306744
|
|
|
NM_181741.4(ORC4):c.452G>A (p.Ser151Asn)
|
rs1553452537
|
|
|
NM_182476.3(COQ6):c.1069del (p.Val357fs)
|
rs1555358729
|
|
|
NM_182895.5(SCARF2):c.1978G>T (p.Ala660Ser)
|
rs150746534
|
|
|
NM_182914.3(SYNE2):c.11944A>C (p.Asn3982His)
|
rs10137972
|
|
|
NM_182914.3(SYNE2):c.17523C>T (p.His5841=)
|
rs202141038
|
|
|
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=)
|
rs79037871
|
|
|
NM_182914.3(SYNE2):c.3855A>T (p.Val1285=)
|
rs371327530
|
|
|
NM_182914.3(SYNE2):c.5737C>T (p.Leu1913Phe)
|
rs780436538
|
|
|
NM_182914.3(SYNE2):c.9926A>G (p.His3309Arg)
|
rs8010699
|
|
|
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)
|
rs876661298
|
|
|
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter)
|
rs1203553546
|
|
|
NM_182961.4(SYNE1):c.10360G>T (p.Ala3454Ser)
|
rs797046022
|
|
|
NM_182961.4(SYNE1):c.11680G>C (p.Asp3894His)
|
rs2154032071
|
|
|
NM_182961.4(SYNE1):c.12152G>A (p.Trp4051Ter)
|
rs2154018964
|
|
|
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
|
|
|
|
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)
|
rs797046024
|
|
|
NM_182961.4(SYNE1):c.17203-5C>A
|
rs886044642
|
|
|
NM_182961.4(SYNE1):c.1933-2A>G
|
rs1554753528
|
|
|
NM_182961.4(SYNE1):c.19893+1G>T
|
rs1191629465
|
|
|
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter)
|
rs1554573328
|
|
|
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs)
|
rs1554553667
|
|
|
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=)
|
rs910415
|
|
|
NM_182961.4(SYNE1):c.25229C>T (p.Thr8410Ile)
|
rs2058481714
|
|
|
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln)
|
rs2295192
|
|
|
NM_182961.4(SYNE1):c.361A>G (p.Ile121Val)
|
rs1554830234
|
|
|
NM_182961.4(SYNE1):c.3769del (p.Glu1257fs)
|
rs2154239396
|
|
|
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer)
|
rs1554829141
|
|
|
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter)
|
rs1554676394
|
|
|
NM_182961.4(SYNE1):c.5267G>A (p.Arg1756Lys)
|
|
|
|
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs)
|
rs797046026
|
|
|
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)
|
rs6913579
|
|
|
NM_183050.4(BCKDHB):c.1119del (p.Phe374fs)
|
rs797045411
|
|
|
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr)
|
rs141281020
|
|
|
NM_194318.4(B3GLCT):c.1045G>A (p.Asp349Asn)
|
rs2137881468
|
|
|
NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter)
|
rs199908878
|
|
|
NM_198252.3(GSN):c.-9-1986C>T
|
|
|
|
NM_198252.3(GSN):c.352-8C>A
|
rs779179398
|
|
|
NM_198252.3(GSN):c.87C>T (p.Pro29=)
|
|
|
|
NM_198253.2(TERT):c.-123T>A
|
rs1327649395
|
|
|
NM_198253.2(TERT):c.-173C>T
|
rs557802134
|
|
|
NM_198253.2(TERT):c.-192T>C
|
rs2126694798
|
|
|
NM_198253.3(TERT):c.-45G>T
|
rs1751308130
|
|
|
NM_198253.3(TERT):c.1009G>A (p.Asp337Asn)
|
rs2126686381
|
|
|
NM_198253.3(TERT):c.1153C>T (p.Arg385Cys)
|
rs1751156834
|
|
|
NM_198253.3(TERT):c.1269C>A (p.Ala423=)
|
rs190411812
|
|
|
NM_198253.3(TERT):c.1269C>T (p.Ala423=)
|
rs190411812
|
|
|
NM_198253.3(TERT):c.1304T>A (p.Val435Glu)
|
rs1561213530
|
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
|
NM_198253.3(TERT):c.1380G>A (p.Gln460=)
|
rs754992012
|
|
|
NM_198253.3(TERT):c.1400_1401delinsTT (p.Ala467Val)
|
rs2126684357
|
|
|
NM_198253.3(TERT):c.1448A>G (p.Asn483Ser)
|
rs2126684107
|
|
|
NM_198253.3(TERT):c.1540G>T (p.Val514Leu)
|
rs2126683768
|
|
|
NM_198253.3(TERT):c.161G>A (p.Cys54Tyr)
|
rs2126691594
|
|
|
NM_198253.3(TERT):c.1620C>G (p.Ile540Met)
|
rs797046041
|
|
|
NM_198253.3(TERT):c.1775A>G (p.His592Arg)
|
rs2126644777
|
|
|
NM_198253.3(TERT):c.1851G>A (p.Leu617=)
|
rs1749930112
|
|
|
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)
|
rs1194223999
|
|
|
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)
|
rs199422294
|
|
|
NM_198253.3(TERT):c.1917C>T (p.Val639=)
|
rs142989562
|
|
|
NM_198253.3(TERT):c.1990G>C (p.Val664Leu)
|
rs797046042
|
|
|
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly)
|
rs1060503011
|
|
|
NM_198253.3(TERT):c.2012G>C (p.Arg671Pro)
|
rs774381540
|
|
|
NM_198253.3(TERT):c.2058C>G (p.Ile686Met)
|
rs745590324
|
|
|
NM_198253.3(TERT):c.2081T>A (p.Val694Glu)
|
rs1026167666
|
|
|
NM_198253.3(TERT):c.2092C>T (p.Arg698Trp)
|
|
|
|
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)
|
rs387907249
|
|
|
NM_198253.3(TERT):c.2305C>T (p.Leu769Phe)
|
rs2126617945
|
|
|
NM_198253.3(TERT):c.230T>C (p.Leu77Pro)
|
rs1751271544
|
|
|
NM_198253.3(TERT):c.2314T>C (p.Tyr772His)
|
rs1749098222
|
|
|
NM_198253.3(TERT):c.2318T>C (p.Met773Thr)
|
rs2126617890
|
|
|
NM_198253.3(TERT):c.2329G>A (p.Val777Met)
|
rs1554040129
|
|
|
NM_198253.3(TERT):c.2562T>G (p.Phe854Leu)
|
rs2126607250
|
|
|
NM_198253.3(TERT):c.2582+10_2582+11delinsTT
|
rs2126607054
|
|
|
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro)
|
rs1561194110
|
|
|
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)
|
rs1748613571
|
|
|
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)
|
rs387907251
|
|
|
NM_198253.3(TERT):c.2817C>T (p.Thr939=)
|
rs1561192997
|
|
|
NM_198253.3(TERT):c.2836T>C (p.Tyr946His)
|
rs1748447400
|
|
|
NM_198253.3(TERT):c.2840C>T (p.Ser947Phe)
|
rs2126594682
|
|
|
NM_198253.3(TERT):c.2844-12C>A
|
rs199765802
|
|
|
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln)
|
rs765566930
|
|
|
NM_198253.3(TERT):c.3005A>G (p.Tyr1002Cys)
|
rs2126573423
|
|
|
NM_198253.3(TERT):c.3048G>A (p.Val1016=)
|
rs1454370746
|
|
|
NM_198253.3(TERT):c.3083A>C (p.Asn1028Thr)
|
rs2126562757
|
|
|
NM_198253.3(TERT):c.3100C>T (p.Arg1034Cys)
|
rs777672180
|
|
|
NM_198253.3(TERT):c.3157+1G>T
|
rs2126562296
|
|
|
NM_198253.3(TERT):c.3171_3172delinsAA (p.Ala1058Thr)
|
rs2126559924
|
|
|
NM_198253.3(TERT):c.320_328del (p.Ala107_Gly109del)
|
rs1554043095
|
|
|
NM_198253.3(TERT):c.3256C>T (p.Arg1086Cys)
|
rs1747563544
|
|
|
NM_198253.3(TERT):c.327G>A (p.Gly109=)
|
rs1060504786
|
|
|
NM_198253.3(TERT):c.3281G>T (p.Gly1094Val)
|
rs1554038180
|
|
|
NM_198253.3(TERT):c.347C>T (p.Thr116Ile)
|
rs1751259223
|
|
|
NM_198253.3(TERT):c.570_586dup (p.Arg196fs)
|
rs2126688998
|
|
|
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter)
|
rs1554043041
|
|
|
NM_198253.3(TERT):c.648_649delinsAA (p.Pro217Thr)
|
rs1554043029
|
|
|
NM_198253.3(TERT):c.688C>A (p.Arg230=)
|
rs989271195
|
|
|
NM_198253.3(TERT):c.696G>A (p.Leu232=)
|
rs1033402019
|
|
|
NM_198253.3(TERT):c.803G>A (p.Arg268His)
|
rs374426285
|
|
|
NM_198253.3(TERT):c.88C>T (p.Arg30Cys)
|
rs2126692283
|
|
|
NM_198253.3(TERT):c.931T>A (p.Ser311Thr)
|
rs1060502998
|
|
|
NM_198253.3(TERT):c.943C>A (p.Arg315Ser)
|
rs1554042911
|
|
|
NM_198271.5(LMOD3):c.426A>C (p.Glu142Asp)
|
rs111848977
|
|
|
NM_198291.3(SRC):c.553+9G>T
|
rs376120012
|
|
|
NM_198428.3(BBS9):c.1065G>A (p.Gln355=)
|
rs756380526
|
|
|
NM_198428.3(BBS9):c.2139G>A (p.Val713=)
|
rs1554512125
|
|
|
NM_198428.3(BBS9):c.2499C>T (p.Ala833=)
|
rs1163398668
|
|
|
NM_198428.3(BBS9):c.528T>G (p.Pro176=)
|
rs757308943
|
|
|
NM_198525.3(KIF7):c.1013A>G (p.Asn338Ser)
|
rs587780373
|
|
|
NM_198525.3(KIF7):c.1262G>A (p.Ser421Asn)
|
rs1555424863
|
|
|
NM_198525.3(KIF7):c.1353C>A (p.Arg451=)
|
rs1026714192
|
|
|
NM_198525.3(KIF7):c.195G>C (p.Ala65=)
|
rs8179066
|
|
|
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)
|
rs142032413
|
|
|
NM_198525.3(KIF7):c.3508C>T (p.Gln1170Ter)
|
rs2141993907
|
|
|
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe)
|
rs150132566
|
|
|
NM_198576.4(AGRN):c.4587C>A (p.Arg1529=)
|
rs2100677874
|
|
|
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)
|
rs121917876
|
|
|
NM_198586.3(NHLRC1):c.973G>A (p.Val325Met)
|
rs587780400
|
|
|
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu)
|
rs587780341
|
|
|
NM_199242.3(UNC13D):c.1992+6G>A
|
rs2143876724
|
|
|
NM_199242.3(UNC13D):c.2035G>T (p.Ala679Ser)
|
rs1321621237
|
|
|
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs)
|
rs764196809
|
|
|
NM_199242.3(UNC13D):c.545_546delinsTT (p.Pro182Leu)
|
rs2143898743
|
|
|
NM_199242.3(UNC13D):c.79dup (p.Arg27fs)
|
rs1244919509
|
|
|
NM_199242.3(UNC13D):c.891C>G (p.Ser297Arg)
|
|
|
|
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=)
|
rs6992333
|
|
|
NM_201384.3(PLEC):c.1882G>A (p.Glu628Lys)
|
rs1554717101
|
|
|
NM_201384.3(PLEC):c.2178+9C>G
|
rs114256617
|
|
|
NM_201384.3(PLEC):c.3028_3033dup (p.Pro1010_Leu1011dup)
|
rs782308502
|
|
|
NM_201384.3(PLEC):c.3301_3302delinsTT (p.Ala1101Phe)
|
rs2131627729
|
|
|
NM_201384.3(PLEC):c.378T>C (p.Ala126=)
|
rs6993938
|
|
|
NM_201384.3(PLEC):c.378T>G (p.Ala126=)
|
rs6993938
|
|
|
NM_201384.3(PLEC):c.472A>G (p.Met158Val)
|
rs1554722990
|
|
|
NM_201525.4(ADGRG1):c.1063+9G>C
|
rs587783650
|
|
|
NM_201525.4(ADGRG1):c.1216del (p.Leu406fs)
|
rs797045600
|
|
|
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro)
|
rs587783653
|
|
|
NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter)
|
rs587783655
|
|
|
NM_201525.4(ADGRG1):c.1665-41C>T
|
rs17240890
|
|
|
NM_201525.4(ADGRG1):c.1775G>A (p.Arg592Gln)
|
rs140298537
|
|
|
NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser)
|
rs587783656
|
|
|
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter)
|
rs587783657
|
|
|
NM_201525.4(ADGRG1):c.253_261del (p.Arg85_Leu87del)
|
rs797045601
|
|
|
NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr)
|
rs587783658
|
|
|
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs)
|
rs587776625
|
|
|
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg)
|
rs1801257
|
|
|
NM_201525.4(ADGRG1):c.900G>C (p.Gln300His)
|
rs587783661
|
|
|
NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs)
|
rs797045602
|
|
|
NM_201589.4(MAFA):c.445GGCGCGCACCAC[1] (p.149GAHH[1])
|
rs537082716
|
|
|
NM_201589.4(MAFA):c.594CCA[7] (p.His206_His208del)
|
|
|
|
NM_201589.4(MAFA):c.708G>A (p.Ser236=)
|
|
|
|
NM_203290.4(POLR1C):c.591C>T (p.Ile197=)
|
rs797045894
|
|
|
NM_203447.4(DOCK8):c.2066C>T (p.Ala689Val)
|
|
|
|
NM_203447.4(DOCK8):c.2440+13_2440+22del
|
rs769837178
|
|
|
NM_203447.4(DOCK8):c.4533C>G (p.Val1511=)
|
rs2056640828
|
|
|
NM_203447.4(DOCK8):c.4563C>T (p.Val1521=)
|
rs370171781
|
|
|
NM_203447.4(DOCK8):c.5205C>A (p.Ala1735=)
|
rs150682688
|
|
|
NM_203447.4(DOCK8):c.5275C>T (p.Leu1759=)
|
rs2131809759
|
|
|
NM_203447.4(DOCK8):c.955C>T (p.His319Tyr)
|
rs2050845211
|
|
|
NM_205850.3(SLC24A5):c.253_255del (p.Ile85del)
|
rs1555451498
|
|
|
NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter)
|
rs1555452574
|
|
|
NM_206937.2(LIG4):c.1512_1513dup (p.Arg505fs)
|
rs759838407
|
|
|
NM_206937.2(LIG4):c.2543A>G (p.His848Arg)
|
rs1555303889
|
|
|
NM_206937.2(LIG4):c.26C>G (p.Thr9Ser)
|
rs1805388
|
|
|
NM_206937.2(LIG4):c.365C>T (p.Ala122Val)
|
|
|
|
NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs)
|
rs1555412971
|
|
|
NM_207037.2(TCF12):c.919T>A (p.Tyr307Asn)
|
rs1555403191
|
|
|
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly)
|
rs201351319
|
|
|
NM_207346.3(TSEN54):c.1138G>T (p.Glu380Ter)
|
rs587784475
|
|
|
NM_207346.3(TSEN54):c.1335del (p.Leu446fs)
|
rs587784476
|
|
|
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter)
|
rs797046054
|
|
|
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs)
|
rs797046055
|
|
|
NM_207346.3(TSEN54):c.1443T>C (p.Pro481=)
|
rs762414335
|
|
|
NM_207346.3(TSEN54):c.1511T>C (p.Leu504Pro)
|
rs587784477
|
|
|
NM_207346.3(TSEN54):c.370-9C>T
|
rs797046056
|
|
|
NM_207346.3(TSEN54):c.536C>T (p.Pro179Leu)
|
rs376310114
|
|
|
NM_207346.3(TSEN54):c.575_576del (p.His192fs)
|
rs587784479
|
|
|
NM_207346.3(TSEN54):c.699C>T (p.Pro233=)
|
rs1555644529
|
|
|
NM_207346.3(TSEN54):c.823del (p.Val275fs)
|
rs797046057
|
|
|
NM_207361.6(FREM2):c.384G>A (p.Pro128=)
|
rs1055473789
|
|
|
NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser)
|
rs200799185
|
|
|
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys)
|
rs34969327
|
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|
|
NM_213622.4(STAMBP):c.1119-6T>G
|
rs797046015
|
|
|
NM_213622.4(STAMBP):c.1172G>C (p.Arg391Pro)
|
rs181632285
|
|
|
NM_213622.4(STAMBP):c.1259_1261del (p.Ile420del)
|
rs587784446
|
|
|
NM_213622.4(STAMBP):c.232C>T (p.Arg78Ter)
|
rs1174684647
|
|
|
NM_213622.4(STAMBP):c.414C>G (p.Ile138Met)
|
rs757404623
|
|
|
NM_213622.4(STAMBP):c.649C>T (p.Gln217Ter)
|
rs1553382055
|
|
|
NM_213649.2(SFXN4):c.32del (p.Pro11fs)
|
rs754192985
|
|
|
NR_001566.1(TERC):n.-129dup
|
rs1553915647
|
|
|
NR_001566.1(TERC):n.-245G>A
|
rs116780570
|
|
|
NR_001566.1(TERC):n.-501T>C
|
rs2108183965
|
|
|
NR_001566.1(TERC):n.-58C>T
|
rs2108183554
|
|
|
NR_001566.1(TERC):n.108del
|
rs2108183267
|
|
|
NR_001566.1(TERC):n.110G>C
|
rs2108183263
|
|
|
NR_001566.1(TERC):n.116C>T
|
rs199422272
|
|
|
NR_001566.1(TERC):n.180C>G
|
rs199422276
|
|
|
NR_001566.1(TERC):n.191C>T
|
rs756967332
|
|
|
NR_001566.1(TERC):n.234_235delinsTT
|
|
|
|
NR_001566.1(TERC):n.306T>G
|
rs1553915591
|
|
|
NR_001566.1(TERC):n.341G>A
|
rs1777959766
|
|
|
NR_001566.1(TERC):n.357_365del
|
rs1415168771
|
|
|
NR_001566.1(TERC):n.443C>A
|
rs1553915577
|
|
|
NR_001566.1(TERC):n.54A>C
|
rs1288561509
|
|
|
NR_001566.1(TERC):n.66C>T
|
rs1577384356
|
|
|
UGT1A1*28
|
rs3064744
|
|